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Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
|
c3279840
| 26,300 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289307
| 2021-01-23T18:44:23 |
{"mesh": ["C566402"], "omim": ["614105"], "umls": ["C3279840"], "icd-10": ["E71.1"], "synonyms": ["Developmental delay due to ALDH6A1 deficiency", "Developmental delay due to MMSDH deficiency"]}
|
Abdominal migraine is a disorder primarily of children which presents with episodes of abdominal pain without an accompanying headache.[1][2] It is difficult to confirm the diagnosis as there are not a set of features that is specific and thus it can take time before the diagnosis is made.[3] The condition is rare in adults;[1] however, children diagnosed with abdominal migraines may have migraine headaches as adults.[4]
## Contents
* 1 Signs and Symptoms
* 2 Diagnosis
* 3 Pathophysiology
* 4 History
* 5 References
## Signs and Symptoms[edit]
As with other types of migraines, there is no diagnostic test to identify abdominal migraines.[5] Diagnosis is based on symptoms, a family history of migraines, and eliminations of other possible causes.[6] Common migraine triggers may also trigger abdominal migraines.
Symptoms[6] [5] may include:
* Abdominal pain
* Nausea
* Vomiting
* Headaches
* Light sensitivity
## Diagnosis[edit]
The diagnosis of abdominal migraines was once considered controversial[7] but is now accepted as a common cause of chronic abdominal pain in children.[8] Diagnostic criteria from the International Classification of Headache Disorders as of 2004[update] are:
> A. At least 5 attacks fulfilling criteria B-D.
> B. Attacks of abdominal pain lasting 1–72 hours (untreated or unsuccessfully treated)
> C. Abdominal pain has all of the following characteristics:
>
> 1\. midline location, periumbilical or poorly localized
> 2\. dull or "just sore" quality
> 3\. moderate or severe intensity
> D. During abdominal pain at least 2 of the following:
>
> 1\. loss of appetite
> 2\. nausea
> 3\. vomiting
> 4\. pallor
> E. Not attributed to another disorder[9]
## Pathophysiology[edit]
Abdominal migraines are a type of functional pain.[10]
## History[edit]
This condition was first described in 1921 by Buchanan.[11]
## References[edit]
1. ^ a b Russell, G; Abu-Arafeh, I; Symon, DN (2002). "Abdominal migraine: evidence for existence and treatment options". Paediatric Drugs. 4 (1): 1–8. doi:10.2165/00128072-200204010-00001. PMID 11817981.
2. ^ Cuvellier, JC; Lépine, A (Jan 2010). "Childhood periodic syndromes". Pediatric Neurology. 42 (1): 1–11. doi:10.1016/j.pediatrneurol.2009.07.001. PMID 20004856.
3. ^ Catto-Smith, AG; Ranuh, R (Nov 2003). "Abdominal migraine and cyclical vomiting". Seminars in Pediatric Surgery. 12 (4): 254–8. doi:10.1053/j.sempedsurg.2003.08.006. PMID 14655164.
4. ^ "Headache: Hope through research". NINDS. April 2016.
5. ^ a b "Abdominal Migraine". American Migraine Foundation. Retrieved 2020-08-19.
6. ^ a b "Abdominal Migraine: Symptoms, Diagnosis & Treatment > Condition at Yale Medicine". Yale Medicine. Retrieved 2020-08-19.
7. ^ Davidoff, Robert A. (2002). Migraine : manifestations, pathogenesis, and management (2nd ed.). Oxford [u.a.]: Oxford Univ. Press. p. 81. ISBN 9780195137057.
8. ^ Mani, Jyoti; Madani, Shailender (2018-04-24). "Pediatric abdominal migraine: current perspectives on a lesser known entity". Pediatric Health, Medicine and Therapeutics. 9: 47–58. doi:10.2147/PHMT.S127210. ISSN 1179-9927. PMC 5923275. PMID 29733088.
9. ^ Headache Classification Subcommittee of the International Headache Society (2004). "The International Classification of Headache Disorders, 2nd Edition" (PDF). Cephalalgia. Oxford, England: Blackwell Publishing. 24 (Supplement 1). ISSN 0333-1024. Archived from the original (PDF) on October 30, 2007. Retrieved 4 September 2009.
10. ^ Noe, JD; Li, BU (May 2009). "Navigating recurrent abdominal pain through clinical clues, red flags, and initial testing". Pediatric Annals. 38 (5): 259–66. PMID 19476298.
11. ^ Tepper, edited by Stewart J. Tepper, Deborah E. (2011-08-22). The Cleveland Clinic manual of headache therapy. New York: Springer. p. 96. ISBN 9781461401780.CS1 maint: extra text: authors list (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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Abdominal migraine
|
c0270858
| 26,301 |
wikipedia
|
https://en.wikipedia.org/wiki/Abdominal_migraine
| 2021-01-18T18:58:34 |
{"mesh": ["D008881"], "umls": ["C0270858"], "wikidata": ["Q4665125"]}
|
Agalmatophilia (from the Greek agalma 'statue', and -philia φιλία = love) is a paraphilia involving sexual attraction to a statue, doll, mannequin or other similar figurative object. The attraction may include a desire for actual sexual contact with the object, a fantasy of having sexual (or non-sexual) encounters with an animate or inanimate instance of the preferred object, the act of watching encounters between such objects, or sexual pleasure gained from thoughts of being transformed or transforming another into the preferred object. Agalmatophilia may also encompass Pygmalionism (from the myth of Pygmalion), which denotes love for an object of one's own creation.[1] Agalmatophilia is a form of Object sexuality.
## Contents
* 1 Clinical study
* 2 Fantasy, transformation, role-play
* 3 In the arts
* 4 See also
* 5 Notes
* 6 References
* 7 External links
## Clinical study[edit]
Agalmatophilia is a twentieth-century term for a medicalization of statue-eroticization widely attested in late eighteenth- and nineteenth-century legal medicine.[2] Actual historical cases are few. Krafft-Ebing recorded in 1877 the case of a gardener falling in love with a statue of the Venus de Milo and being discovered attempting coitus with it.[3]
## Fantasy, transformation, role-play[edit]
This section does not cite any sources. Please help improve this section by adding citations to reliable sources. Unsourced material may be challenged and removed. (August 2012) (Learn how and when to remove this template message)
An important fantasy for some individuals is being transformed into the preferred object (such as a statue) and experiencing an associated state of immobility or paralysis. Such fantasies may be extended to role-playing, and the self-coined term used by fetishists who enjoy being transformed into what appears to be a "rubber doll" or "latex doll" or trapped within a statue and displayed in a museum.
## In the arts[edit]
This section does not cite any sources. Please help improve this section by adding citations to reliable sources. Unsourced material may be challenged and removed. (August 2012) (Learn how and when to remove this template message)
Sexualised life-size dolls have extensively featured in the work of famous art photographers such as Hans Bellmer, Bernard Faucon, Helmut Newton, Morton Bartlett, Katan Amano, Kishin Shinoyama[4] and Ryoichi Yoshida.
Agalmatophilia features prominently in Luis Buñuel's L'Âge d'Or, in which the female protagonist sucks a statue's toe; in the novel Kort Amerikaans ("Crew Cut") (1962) by Dutch writer Jan Wolkers (and the movie of the same name, based on the novel, from 1979), in which the main character (in the movie played by Derek de Lint) develops an interest in, and ultimately is caught having sex with, a plaster torso; as well as in Tarsem Singh's thriller film The Cell (2000), which centers on a serial killer who bleaches his victims' bodies so they resemble dolls.
The romantic comedy film Mannequin (1987) is about a window dresser who has a relationship with an animated mannequin, which he had found at a department store.
The character Number Five in the superhero web television series The Umbrella Academy (2019) falls in love with a mannequin named Dolores.
## See also[edit]
* Doll fetish
* Gynoid
* Human furniture
* Living statue
* Objectum
* Robot fetishism
* Sex doll
* Sexual objectification
* Tableau vivant
## Notes[edit]
1. ^ Ellis, 1927.
2. ^ Janssen, Diederik F (2020-06-30). "From Libidines nefandæ to sexual perversions". History of Psychiatry: 0957154X2093725. doi:10.1177/0957154X20937254. ISSN 0957-154X. PMID 32605397.
3. ^ Kick, 2005.
4. ^ "シノヤマネット - 篠山紀信 写真・映像ライブラリー". shinoyama.net. Archived from the original on 27 March 2019. Retrieved 13 March 2019.
## References[edit]
* Alexandre, Elisabeth (2005). Des poupées et des hommes. Enquête sur l'amour artificiel (Dolls and Men - Investigation into Artificial Love). La Musardine. ISBN 2-84271-252-8.
* Dorfman, Elena (2005). Still Lovers. Channel Photographics. ISBN 0-9766708-1-X.
* Ellis, Havelock (1927). Studies in the Psychology of Sex. "Volume V: Erotic Symbolism; The Mechanism of Detumescence; The Psychic State in Pregnancy". ISBN 1-4375-0927-4.
* Gross, Kenneth (1992). The Dream of the Moving Statue. Cornell University Press. ISBN 0-8014-2702-9.
* Kick, Russ (2005). Everything You Know about Sex Is Wrong. The Disinformation Company. ISBN 1-932857-17-6.
* Krafft-Ebing, Richard von (1906). Psychopathia Sexualis, with Special Reference to the Antipathic Sexual Instinct: A Medico-Forensic Study. ISBN 1-55970-425-X.
* Plumb, Suzie (Editor) (2005). Guys and Dolls: Art, Science, Fashion and relationships. Royal Pavilion, Art Gallery & Museums. ISBN 0-948723-57-2.
* Scobie A, Taylor J. (January 1975). Journal of the History of the Behavioral Sciences: Vol 11, Issue 1: "Agalmatophilia, the statue syndrome." Wiley Periodicals, Inc.
* Simmons, Laurence (2006). Freud's Italian Journey. Rodopi. ISBN 90-420-2011-3.
* Wenk, Silke (1989). "Pygmalions Wahlverwandtschaften. Die Rekonstruktion des Schöpfermythos im nachfaschistischen Deutschland" IN: Konstruktionen von Männlichkeit und Weiblichkeit in Kunst und Kunstgeschichte. Berlin.
* White, M. J. (November 1978). Journal of Sex Research; Vol. 14, Issue 4: "The Statue Syndrome: Perversion? Fantasy? Anecdote?".
## External links[edit]
* "Just Like a Woman" \- Salon.com article describing cultural phenomenon of RealDolls
* "Real Dolls: Love in the Age of Silicone" \- original, more detailed version of the Salon article
* The Technosexuality, Pygmalionist & Mind Control Fetish FAQ 3.0
* Lars and the Real Girl at IMDB. A delusional young guy strikes up an unconventional relationship with a doll he finds on the Internet.
* v
* t
* e
Paraphilias
List
* Abasiophilia
* Acrotomophilia
* Agalmatophilia
* Algolagnia
* Apotemnophilia
* Autassassinophilia
* Biastophilia
* Capnolagnia
* Chremastistophilia
* Chronophilia
* Coprophagia
* Coprophilia
* Crurophilia
* Crush fetish
* Dacryphilia
* Dendrophilia
* Emetophilia
* Eproctophilia
* Erotic asphyxiation
* Erotic hypnosis
* Erotophonophilia
* Exhibitionism
* Formicophilia
* Frotteurism
* Gerontophilia
* Homeovestism
* Hybristophilia
* Infantophilia
* Kleptolagnia
* Klismaphilia
* Lactaphilia
* Macrophilia
* Masochism
* Mechanophilia
* Microphilia
* Narratophilia
* Nasophilia
* Necrophilia
* Object sexuality
* Odaxelagnia
* Olfactophilia
* Omorashi
* Paraphilic infantilism
* Partialism
* Pedophilia
* Podophilia
* Plushophilia
* Pyrophilia
* Sadism
* Salirophilia
* Scopophilia
* Somnophilia
* Sthenolagnia
* Tamakeri
* Telephone scatologia
* Transvestic fetishism
* Trichophilia
* Troilism
* Urolagnia
* Urophagia
* Vorarephilia
* Voyeurism
* Zoophilia
* Zoosadism
See also
* Other specified paraphilic disorder
* Erotic target location error
* Courtship disorder
* Polymorphous perversity
* Sexual fetishism
* Human sexual activity
* Perversion
* Sexology
* Book
* Category
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Agalmatophilia
|
None
| 26,302 |
wikipedia
|
https://en.wikipedia.org/wiki/Agalmatophilia
| 2021-01-18T18:30:49 |
{"wikidata": ["Q206716"]}
|
17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q12.
The signs and symptoms of 17q12 deletion syndrome vary widely, even among affected members of the same family. Among the more common features associated with this chromosomal change are problems with development or function of the kidneys and urinary system. These abnormalities range from very severe malformations, leading to kidney failure before birth, to mild or no problems with kidney and urinary tract function. Fluid-filled sacs (cysts) in the kidneys are particularly common. Many affected individuals also develop a form of diabetes called maturity-onset diabetes of the young type 5 (MODY5), which is caused by a malfunction of certain cells in the pancreas. MODY5 usually appears in adolescence or early adulthood, most often before age 25. The combination of kidney cysts and MODY5 is sometimes referred to as renal cysts and diabetes (RCAD) syndrome.
About half of people with 17q12 deletion syndrome have delayed development (particularly speech and language delays), intellectual disability, or behavioral or psychiatric disorders. Behavioral and psychiatric conditions that have been reported in people with 17q12 deletion syndrome include autism spectrum disorder (which affects social interaction and communication), schizophrenia, anxiety, and bipolar disorder.
Less commonly, 17q12 deletion syndrome also causes abnormalities of the eyes, liver, brain, genitalia, and other body systems. Some females with this chromosomal change have Mayer-Rokitansky-Küster-Hauser syndrome, which is characterized by underdevelopment or absence of the vagina and uterus. 17q12 deletion syndrome is also sometimes associated with subtle differences in facial features.
## Frequency
The worldwide prevalence of 17q12 deletion syndrome is unknown, although the condition appears to be rare. One study estimated that 17q12 deletion syndrome occurs in 1 in 14,500 people in Iceland.
## Causes
Most people with 17q12 deletion syndrome are missing about 1.4 million DNA building blocks (base pairs), also written as 1.4 megabases (Mb), at position q12 on chromosome 17. This deletion affects one of the two copies of chromosome 17 in each cell.
The deleted segment is surrounded by short, repeated sequences of DNA that make the segment prone to rearrangement during cell division. The rearrangement can lead to missing or extra copies of DNA at 17q12. (The presence of an extra copy of this segment is called a 17q12 duplication.)
The chromosome segment most commonly deleted in people with 17q12 deletion syndrome contains 15 genes. The loss of two genes in particular, HNF1B and LHX1, is thought to underlie some of the features of 17q12 deletion syndrome. Studies suggest that a loss of one copy of the HNF1B gene in each cell causes the kidney and urinary tract abnormalities, as well as abnormalities of the pancreas that underlie diabetes. The loss of one copy of LHX1 is thought to contribute to intellectual disability, behavioral and psychiatric conditions, and Mayer-Rokitansky-Küster-Hauser syndrome. The loss of other genes in the deleted region may also influence the signs and symptoms that can occur in 17q12 deletion syndrome.
### Learn more about the genes and chromosome associated with 17q12 deletion syndrome
* HNF1B
* LHX1
* chromosome 17
## Inheritance Pattern
This condition is inherited in an autosomal dominant pattern, which means one copy of the chromosomal deletion in each cell is sufficient to cause the disorder.
Most cases of 17q12 deletion syndrome result from a new (de novo) chromosomal deletion and occur in people with no history of the disorder in their family. Less commonly, an affected person inherits the deletion from one affected parent.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
17q12 deletion syndrome
|
c3281138
| 26,303 |
medlineplus
|
https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome/
| 2021-01-27T08:25:41 |
{"omim": ["614527"], "synonyms": []}
|
## Summary
## Diagnosis
Formal clinical diagnostic criteria for Barth syndrome have not been established.
### Suggestive Findings
Barth syndrome is an X-linked condition in which heterozygous females typically do not express clinical or biochemical features, although rare instances of affected females have been reported.
Barth syndrome should be suspected in an individual (typically a male) with the following clinical features, supportive laboratory findings, and family history.
Clinical features
* At least one of the following cardiac findings:
* Dilated cardiomyopathy ± endocardial fibroelastosis. Ventricular chamber enlargement and contractile dysfunction in the setting of normal left ventricular wall thickness, with or without diffuse thickening of the ventricular endocardium
* Left ventricular noncompaction. Noncompacted left ventricular myocardium with prominent trabeculations and deep intertrabecular recesses that communicate with the ventricular cavity
* Hypertrophic cardiomyopathy (less common). Characterized by increased ventricular wall thickness
* Skeletal myopathy or hypotonia
* Prepubertal growth delay
* Typical dysmorphic findings in infants and toddlers including round face, full cheeks, prominent pointed chin, large ears, and deep-set eyes
Supportive laboratory findings
* Lactic acidosis (normal: 0.5-2.2 mmol/L)
* Hypocholesterolemia (total cholesterol <110 mg/dL)
* Neutropenia (absolute neutrophil count <1,500 cells/µL)
* Elevated 3-methylglutaric acid, 3-methylglutaconic acid (3-MGC), and 2-ethylhydracrylic acid on urine organic acids analysis
* 3-MGC is typically increased five- to 20-fold [Clarke et al 2013] with an average value of 44.6±25 SD µg/mg Cr (see Table 1).
* Note: Urinary 3-MGC levels can be normal on single sample testing [Takeda et al 2011], and may be normal for the first six to 18 months of life [Baban et al 2020].
* Increased monolysocardiolipin:cardiolipin ratio is a pathognomonic biochemical finding. Since the protein that is deficient in Barth syndrome is responsible for cardiolipin remodeling within the inner mitochondrial membrane, affected individuals have (in a variety of tissues):
* Increased monolysocardiolipins;
* Decreased cardiolipin (specifically tetralinoleylcardiolipin).
### Table 1.
Urine and Plasma Organic Acid Levels in Barth Syndrome
View in own window
Organic AcidIn Urine (μg/mg Cr)In Plasma (nmol/L)
Barth SyndromeControlBarth SyndromeControl
3-methylglutaconic acidAvg: 44.6±25 (SD) 1
↑ 5- to 20-fold 20-2 yrs: 6.6±2.4
2-12 yrs: 5.3±2.4
Adult: 3.7±1.81,088±435
(range: 393-2326) 1162±68
3-methylglutaric acidModerately ↑ 3
2-ethylhydracrylic acidModerately ↑ 3
14.4±10 1Trace
1\.
Vernon et al [2013]
2\.
Clarke et al [2013]
3\.
Kelley et al [1991]
Family history consistent with X-linked inheritance including recurrent pregnancy loss involving male fetuses [Steward et al 2010]. Note: Absence of a known family history of Barth syndrome or recurrent pregnancy loss involving male fetuses does not preclude the diagnosis.
### Establishing the Diagnosis
Male proband. The diagnosis of Barth syndrome is established in a male proband with either an increased monolysocardiolipin:cardiolipin ratio (if available) or a hemizygous pathogenic variant in TAZ identified by molecular genetic testing (see Table 2).
Female proband. The diagnosis of Barth syndrome is usually established in a female proband with suggestive clinical findings and a TAZ pathogenic variant identified by molecular genetic testing (see Table 2).
Note: (1) Females with a heterozygous pathogenic variant in TAZ typically do not express clinical or biochemical features of Barth syndrome (see Clinical Description, Female Heterozygotes). (2) In the rare cases where a female has presented with clinical features of Barth syndrome there has been an additional scientific explanation (i.e., ring X chromosome) or unfavorably skewed X inactivation. Theoretically, a female with 45,X or another structural X-chromosome anomaly may also be symptomatic.
Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing and multigene panel) and comprehensive genomic testing (exome sequencing, exome array, genome sequencing) depending on the phenotype.
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Because the phenotype of Barth syndrome is broad, individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those with a phenotype indistinguishable from many other inherited disorders with cardiomyopathy and/or hypotonia are more likely to be diagnosed using genomic testing (see Option 2).
#### Option 1
When the phenotypic and laboratory findings suggest the diagnosis of Barth syndrome, molecular genetic testing approaches can include single-gene testing or use of a multigene panel:
* Single-gene testing. Sequence analysis of TAZ is performed first to detect small intragenic deletions/insertions and missense, nonsense, and splice site variants. Note: Depending on the sequencing method used, single-exon, multiexon, or whole-gene deletions/duplications may not be detected, particularly in females. If no variant is detected by the sequencing method used, the next step is to perform gene-targeted deletion/duplication analysis to detect exon and whole-gene deletions or duplications.
Note: Lack of amplification by PCR prior to sequence analysis can suggest a putative (multi)exon or whole-gene deletion on the X chromosome in affected males; confirmation requires additional testing by gene-targeted deletion/duplication analysis.
* A cardiomyopathy multigene panel that includes TAZ and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests. For this disorder a multigene panel that also includes deletion/duplication analysis is recommended (see Table 2).
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
#### Option 2
When the phenotype is indistinguishable from many other inherited disorders characterized by cardiomyopathy and/or hypotonia, comprehensive genomic testing (which does not require the clinician to determine which gene[s] are likely involved) is the best option. Exome sequencing is most commonly used; genome sequencing is also possible.
If exome sequencing is not diagnostic, exome array (when clinically available) may be considered to detect (multi)exon deletions or duplications that cannot be detected by sequence analysis.
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 2.
Molecular Genetic Testing Used in Barth Syndrome
View in own window
Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
TAZSequence analysis 3, 4~92%-93% 5, 6
Gene-targeted deletion/duplication analysis 7~7-8% 5
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
Lack of amplification by PCR prior to sequence analysis can suggest a putative (multi)exon or whole-gene deletion on the X chromosome in affected males; confirmation requires additional testing by gene-targeted deletion/duplication analysis.
5\.
Based on Stenson et al [2017] and Human Tafazzin (TAZ) Gene Mutation & Variation Database (accessed 2-10-2020)
6\.
A synonymous variant in TAZ, c.348C>T (p.Gly116=), was shown to cause exon skipping and determined to be causative for Barth syndrome in one person [Ferri et al 2016].
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.
## Clinical Characteristics
### Clinical Description
#### Affected Males
To date, more than 200 individuals with Barth syndrome have been identified [Miller et al 2020]. The vast majority of affected individuals are male (see Female Heterozygotes). The following description of the phenotypic features associated with this condition is based on these reports.
### Table 3.
Select Features of Barth Syndrome
View in own window
Feature% of Persons with Feature 1Comment
Skeletal myopathy97%6MWT is abnormal in almost all individuals.
Cardiomyopathy 273%Dilated cardiomyopathy is most common. 2
Neutropenia70%-85%
Prepubertal growth delay58% 3
Prolonged QTc25%-43%
Arrhythmia10%-20% 4
6MWT = distance walked on six-minute walk test
1\.
The vast majority of affected individuals are male.
2\.
At presentation
3\.
Spencer et al [2006]
4\.
Based on the study by Kang et al [2016] and Spencer et al [2006]
Most affected individuals with Barth syndrome are male and present in infancy with cardiac issues, specifically dilated cardiomyopathy. In a French study of 22 males with Barth syndrome from 16 families, the median age at which medical care was first sought was 3.1 weeks (range: 0-1.4 years) [Rigaud et al 2013].
In another study of 73 males enrolled in the Barth Syndrome Registry, the age of onset was 0.76±1.6 years and the mean age at diagnosis was 4.04±5.45 years [Roberts et al 2012]. Therefore, there is on average a three-year delay between presentation and diagnosis of Barth syndrome. Cardiomyopathy was the presenting manifestation in 73% and infection was the presenting manifestation in 18%.
Cardiomyopathy in Barth syndrome is usually dilated but can also have features of combined dilated and hypertrophic cardiomyopathy, or isolated hypertrophic cardiomyopathy. Left ventricular noncompaction is also seen in many affected males.
The cardiomyopathy characteristically follows an undulating course in which the cardiac tissue can undergo remodeling, including a transition between hypertrophic and dilated appearances.
Cardiomyopathy almost always presents before age five years [Clarke et al 2013]. In many affected individuals the cardiomyopathy improves and in some it stabilizes after the toddler years. In the study by Rigaud et al [2013], left ventricular size and mass increased during the first six months of life, then decreased until age two years, and then appeared to stabilize. However, data in this study were insufficient to characterize these parameters in older children.
In a study by Kang et al [2016] of 27 individuals with Barth syndrome followed in the United Kingdom, those with normal left ventricular size and function had abnormalities of longitudinal and circumferential strain and reduced apical rotation. This finding led to the suggestion that cardiac medications be continued as long as functional or mechanical abnormalities persist.
Heart failure is a significant cause of morbidity and mortality; however, overall cardiac function varies greatly in individuals with Barth syndrome. Roberts et al [2012] noted that there may be a trend toward decline in cardiac function over time, as data from the Barth Syndrome Registry showed that for each five-year increase in age, ejection fraction z-score decreases on average by 0.6.
In the study by Rigaud et al [2013], out of 54 total hospitalizations for heart failure, 11 were due to worsening of heart failure attributed to infections. In this cohort, nine died from heart failure and two from sepsis. Median age of death was 5.1 months (range: 1.2-30.7 months). In the study by Kang et al [2016] of 27 people with Barth syndrome followed in the United Kingdom, seven underwent cardiac transplantation at a median age of two years, and five died at a median age of 1.8 years. All deaths were reported to be due to cardiomyopathy or the side effects of its management.
The response to medical therapy for cardiac failure is generally good. Spencer et al [2006] observed that with standard cardiac medications for dilated cardiomyopathy more than 16/30 affected males had normal ejection fraction and left ventricular diastolic volume. However, some responded to therapy initially but deteriorated after a period of stability, requiring cardiac transplantation [Adwani et al 1997, Mangat et al 2007].
Arrhythmia. The risk for arrhythmia (including supraventricular and ventricular tachycardia) and sudden death is increased. While arrhythmia has been most often reported in adolescents and young adults, it can occur in children of all ages. ECG abnormalities can include repolarization abnormalities and prolonged QTc intervals.
All 20 affected males with ECGs in the French cohort had a normal sinus rhythm. Repolarization abnormalities (including ST flattening and T-wave inversion) were seen in 17. Five had QTc values within the normal range (QTc <420 ms), and five had QTc greater than 460 ms. The median QTc was 440 ms (range: 360-530 ms). In the study by Kang et al [2016], nine of 21 affected individuals had prolonged QTc of greater than 460 ms and three had borderline QTc prolongation between 450 and 460 ms.
In five instances of ventricular arrhythmia leading to cardiac arrest or placement of an internal defibrillator [Spencer et al 2005]:
* All five individuals had normal QTc intervals;
* All five had a history of recurrent vasovagal symptoms including postural dizziness, nausea, and pallor suggestive of autonomic instability;
* Four had only mild LV dilatation and low normal to mildly depressed LV function; only one had poor but stable LV function prior to cardiac arrest;
* Three showed inducible ventricular arrhythmias on electrophysiologic testing;
* Two (and possibly 3) had a family history of sudden death in a brother suspected of having Barth syndrome; of note, no genotype-phenotype correlations predicted increased risk for arrhythmia;
* One had a normal Holter monitor study; one had only repolarization abnormalities at higher heart rates;
* One had both ventricular and supraventricular tachycardia.
In the study by Kang et al [2016], 42 Holter recordings were performed in 16 affected individuals, and none had sustained tachyarrhythmia. Two had loop recorder implantation and brief atrial tachycardia was identified in one. One affected individual was noted to have broad complex tachycardia lasting five beats during an echocardiogram, correlating with symptoms.
Neutropenia and infections. In the Barth Syndrome Registry study, self-reported data revealed that neutropenia * was present in 69.1% at some point, a number similar to that from the French study, in which 16 of 22 males had a median absolute neutrophil count (ANC) of fewer than 500 cells/µL at least once.
* In a study of 83 males with Barth syndrome, the median ANC was 1,100 cells/µL (range: 140-5,400 cells/µL) [Dale et al 2013].
* These findings are similar to those of the French cohort, in which the median ANC was 1,300 cells/µL (range: 0-6,400 cells/µL) [Rigaud et al 2013]. In both studies, the ANC fluctuated, but without detectable periodicity.
* In another report of 88 individuals with Barth syndrome, 84% had at least one ANC below 1,500 cells/µL [Steward et al 2019].
* Defined as follows:
* Mild neutropenia: ANC between 1,000 and 1,500 cells/µL
* Moderate neutropenia: ANC between 500 and 1,000 cells/µL
* Severe neutropenia: ANC below 500 cells/µL
In the original description of the syndrome by Barth et al [1983] three of seven males with a known cause of death died from infection; however, such high mortality from infection was not observed in subsequent publications. In fact, the effects of neutropenia are more often limited to mild involvement, such as persistent oral infections [Barth et al 1999]. However, significant complications can occur. A recent review of the UK NHS Barth Syndrome Service documented infections in 35 affected individuals prior to the introduction of G-CSF therapy: two had complications of acute tubular necrosis secondary to streptococcal septicemia; one developed renal failure requiring transplant due to haemophilus septicemia; two had osteomyelitis; one had septic arthritis; three had soft tissue abscesses; five had cellulitis; two had balanitis; four had lobar consolidation/pneumonia; two had gingivitis; and one had a urinary tract infection [Steward et al 2019]. In the more recent Barth Syndrome Registry study, 60.2% of affected males had mouth ulcers, 28% had pneumonia, and 10% had blood infections.
This relatively low incidence of bacterial infections despite an ANC persistently below 1,000 cells/µL could be due to the development of a chronic, substantial monocytosis [Kelley 2002], which has been reported in two studies:
* In the French study the median absolute monocyte count (AMC) was 1,100 cells/µL (range: 500-4,300 cells/µL)
* Vernon et al [2014] reported an average AMC of 894±449 cells/µL (range: 500-2,400 cells/µL), with five of 17 affected males having monocyte counts at or above 1,000 cells/µL.
* In a report of 88 individuals with Barth syndrome [Steward et al 2019], monocyte counts greater than 1,000 cells/µL were observed at least once in 75%.
Of note, hematologic parameters neither worsen nor improve with age [Dale et al 2013]. Patterns of neutropenia seen in people with Barth syndrome can vary between intermittent and unpredictable, chronic and severe, or cyclical with a predictable pattern [Steward et al 2019].
Skeletal myopathy, which predominantly affects the proximal muscles, is non-progressive during childhood [Clarke et al 2013]. Frequently, affected children are diagnosed with hypotonia.
* In the Barth Syndrome Registry study it was observed that the myopathy led to developmental motor delay: 44 of 67 children showed a delay in sitting up, and 48 of 67 showed a delay in walking. Of note, 34% of affected males reported the use of foot and/or ankle orthoses, walkers, or wheelchairs at some point in their lives.
* In the French study the median age for walking was 19 months (range: 12-24 months).
Some males with Barth syndrome were born with talipes equinovarus, indicating a possible prenatal onset of hypotonia [Adès et al 1993, Gedeon et al 1995].
Of note, the exercise intolerance seen in males with Barth syndrome is due to both cardiac impairment and decreased skeletal muscle oxygen utilization [Spencer et al 2011].
In a study of individuals with Barth syndrome, six-minute walk test (6MWT) distance was abnormal in 33/34 individuals compared to controls [Thompson et al 2016]. In a study of functional exercise capacity and strength in 31 individuals with Barth syndrome [Hornby et al 2019], participants with Barth syndrome demonstrated abnormal 6MWT, increased five times sit-to-stand time (5XSST), and decreased knee extensor strength compared to controls.
Growth delay. Between ages six and 36 months the 50th percentile for length for boys with Barth syndrome is roughly equivalent to the third percentile in the standard curve; between ages 27 and 36 months, the 50th percentile for weight is roughly equal to the third percentile in the standard curve [Roberts et al 2012].
* Roberts et al [2012] published specific growth curves for boys with Barth syndrome [Roberts et al 2012; see Figure 1a-d].
* Spencer et al [2006] found that males with Barth syndrome show a delayed post-pubertal growth spurt with remarkable "catch-up" growth.
In males younger than age 18 years:
* Mean weight is in the 15th percentile (range: <1-66), with 15 of 26 males below the fifth percentile. Mean height is in the eighth percentile (range: <1-38), with 15 of 26 males at or below the fifth percentile.
* Body mass index is below the fifth percentile in 44% of males, normal in 48%, and above the 95th percentile in 7%.
In males older than age 18 years, mean weight was in the 13th percentile (range: <1-63) and mean height in the 50th percentile (range: 8-90).
Dysmorphology. Younger males with Barth syndrome have a characteristic facial gestalt that is most evident during infancy, characterized by a tall and broad forehead, round face, full cheeks, prominent pointed chin, large ears, and deep-set eyes. This appearance persists through childhood, becoming less obvious following puberty. The ears tend to remain prominent and the eyes deep-set.
At this point and after the late pubertal period of "catch-up" growth the most striking feature is that of gynoid fat distribution [Hastings et al 2009].
Intellectual development. Cognition in boys with Barth syndrome is characterized by age-appropriate vocabulary and basic reading skills, but a below-average performance in mathematics and selective difficulties in visuospatial skills that are not due to impaired motor functioning from myopathy [Mazzocco et al 2007]. Math difficulties are not evident in preschool but appear to emerge in kindergarten [Raches & Mazzocco 2012].
In the Barth Syndrome Registry study, 30 of 60 males older than age three years reported delay either in first words or in putting words together; 31 of 67 participated in speech therapy. Twenty-two of 46 males older than age seven years reported some form of "learning disability."
Sensory issues related to feeding and eating are common, and many affected males have a strong preference for salty, cheesy, and spicy foods while having an overall restricted repertoire of foods. Some issues such as a strong gag reflex manifest early in development [Reynolds et al 2012].
Psychosocial functioning. Boys with Barth syndrome experience lower quality of life than both healthy controls and boys with cardiac disease alone [Storch et al 2009]. Nine of 34 children were being monitored by a school psychologist, and eight of 34 children had close contact with a school counselor.
Acute decompensation. An acute metabolic presentation with metabolic acidosis, elevated plasma lactate, elevated transaminases, hypoglycemia, and hyperammonemia has been reported [Donati et al 2006]. Of note, this presentation has been described even in the setting of largely preserved cardiac function [Yen et al 2008, Steward et al 2010]. All four males reported to date with this metabolic presentation had onset of symptoms during the neonatal period (between days 1 and 13). Their subsequent course is not known to differ from that of other males with Barth syndrome.
Other. Based on data collected by the Barth Syndrome Registry study, other observed findings were:
* Delayed bone age (in 58%);
* Scoliosis (in 20%);
* Supplemental feeds via either gastrostomy tube or nasogastric tube (in 23 of 70 individuals).
Perinatal. In 19 families with Barth syndrome, Steward et al [2010] found that six had serious perinatal issues including male fetal loss, nine stillbirths, and severe neonatal illness or death. The authors noted that Barth syndrome may be an under-recognized cause of male fetal loss. Others have described characteristic cardiac pathology of Barth syndrome (endocardial fibroelastosis and subendocardial vacuolization of myocytes) as early as 18 weeks' gestation [Brady et al 2006].
In the Barth Syndrome Registry study, preterm birth from 29 to 36 weeks occurred in nine of 65 males; birth weight was below 2.5 kg in nine of 48 males.
In the French study, median birth weight was 2.77 kg (range: 2.18-3.73 kg) and seven of 22 males had severe intrauterine growth restriction with birth weight below the third percentile.
Prognosis. The two factors that correlate with survival are severe neutropenia at the time of diagnosis and birth year (before 2000 or in/after 2000) [Rigaud et al 2013].
* Males with an ANC <500 cells/µL at the time of diagnosis have a one-year survival rate of 25% compared to 68% for those with an ANC >500 cells/µL.
* Males born before 2000 had a five-year survival rate of 22% compared to 70% in those born in or after 2000. This finding is likely related to the better management of heart failure in more recent years.
In the French study, the five-year survival rate was 51%, with no deaths reported in males age three years or older; thus, the risk for early mortality appears to peak in the first few years of life.
Ronvelia et al [2012] report a man age 51 years with Barth syndrome, while Mazar et al [2019] reported seven individuals ages 37.2 to 58.6 years (the latter the oldest living individual with a confirmed diagnosis). Two affected males in their 60s are known [Author, personal observation].
Laboratory findings that may be associated with Barth syndrome include the following.
Plasma 3 methylglutaconic acid (3-MGC). In a single study, 28 of 28 affected individuals ranging in age from ten months to 30 years had elevated plasma 3-MGC levels, with an average of 1,088 nmol/L ± 435 (range: 393-2,326 nmol/L) [Vernon et al 2014] (see Table 1). In contrast, only eight of 16 individuals in the French cohort had elevated 3-MGC levels [Rigaud et al 2013].
Monolysocardiolipin:cardiolipin ratio. Using high-performance liquid chromatography-mass spectrometry (HPLC-MS), van Werkhoven et al [2006] measured monolysocardiolipin (MLCL) and cardiolipin (CL) levels from cultured fibroblasts of males with Barth syndrome and controls. They found that the range of MLCL:CL ratios was 5.41–13.83 in Barth syndrome and 0.03–0.12 in controls.
Using a screening method in bloodspots, Kulik et al [2008] found that all males with Barth syndrome had an MLCL:CL ratio greater than 0.40 and all controls had a ratio of lower than 0.23. Using a cutoff of 0.30, they reported a sensitivity and specificity of 100%. Males with classic Barth syndrome tend to have ratios greater than 1 but those with an intermediate form or atypical phenotype (mild cardiac involvement, good exercise tolerance, mild/no neutropenia) can have ratios lower than this but greater than 0.4. It is important that the MLCL:CL ratio is used for diagnosis, rather than CL content alone, as false negative results can result for atypical phenotypes if only tetralinoleoyl cardiolipin is measured. [Bowron et al 2015]. It is also advised to confirm the results from MLCL:CL either through molecular genetic testing or with a repeat sample, ideally in a different medium.
* A confirmatory method in cultured fibroblasts, lymphocytes, and skeletal muscle has also been validated [Houtkooper et al 2009].
* In the French study, all 16 affected males had an elevated MLCL:CL ratio: in fibroblasts (14 individuals); in lymphoblasts (1 individual); and in platelets (1 individual) [Rigaud et al 2013].
* Lactic acidosis. Blood lactate ranges from normal to well above normal related to both cardiac and metabolic status (normal: 0.5-2.2 mmol/L).
* Plasma amino acids
* In a French study in which plasma amino acid levels were available for eight affected males, all showed lower arginine levels than controls [Rigaud et al 2013].
* This finding was reproduced in 28 males with Barth syndrome (mean arginine level: 43 μmol/L) vs controls (70 μmol/L) with a statistically significant p-value [Vernon et al 2014]. These 28 males also showed significantly higher proline levels (291 μmol/L) than controls (165 μmol/L).
* Hypocholesterolemia (total cholesterol <110 mg/dL). Described in six of 25 patients tested [Spencer et al 2006]. In another study, only two of 28 were found to be hypocholesterolemic, with a mean cholesterol level of 137±26 mg/dL [Vernon et al 2014].
* Hypoglycemia. Although not a common finding, hypoglycemia has been described occasionally [Kelley et al 1991, Christodoulou et al 1994] and in at least one case was the presenting complaint [Rigaud et al 2013].
* Creatine kinase. Mild elevations ranging from 192 to 397 mg/dL have been reported in three of 20 males tested [Spencer et al 2006].
* Prealbumin. Low prealbumin (<20 mg/dL) has been described in 15 of 19 males tested [Spencer et al 2006]. In a separate study 13 of 18 affected males showed decreased prealbumin levels with a mean of 16.9±4.0 mg/dL [Vernon et al 2014].
Respiratory chain studies reveal decreased activity of complex III and IV in skeletal muscle [Barth et al 1983] and fibroblasts [Barth et al 1996].
Pathology
* Skeletal muscle. Accumulation of lipid droplets within type I muscle fibers and nonspecific mitochondrial abnormalities have been described [Barth et al 1983, Ino et al 1988, Kelley et al 1991]. In at least one case the initial presentation was a lipid storage myopathy [Takeda et al 2011].
* Liver. Lipid storage in the liver has also been described [Ino et al 1988, Kelley et al 1991, Donati et al 2006].
* Bone marrow
* A maturation arrest at the myelocyte stage was noted in the original description of the disease [Barth et al 1983].
* More recently, in a French cohort in which five bone marrow smears were available, two showed promyelocyte-myelocyte maturation arrest, and the samples without a complete arrest showed an increased proportion of promyelocytes with a greatly decreased proportion of myelocytes, metamyelocytes, and neutrophils [Rigaud et al 2013].
#### Female Heterozygotes
Heterozygous females typically do not manifest the disease. Biochemical abnormalities have not been found in eight heterozygous females [Vernon et al 2014].
It is proposed that heterozygous females are asymptomatic due to selection against cells with the mutated TAZ allele on the active X chromosome, based on a study of the X-chromosome inactivation pattern in 16 obligate heterozygotes [Orstavik et al 1998]. In this study, six of the 16 had an extremely skewed pattern of X-chromosome inactivation (≥95:5) and five had a skewed pattern (80:20≤95:5) that was not observed in 148 female controls.
Two females with Barth syndrome have been reported:
* One had biallelic pathogenic variants in TAZ as a result of (1) a complete deletion of the paternal allele (associated with a ring X chromosome with a large deletion that included TAZ) and (2) a deletion of exons 1-5 in the maternal TAZ allele [Cosson et al 2012]. Analysis of lymphocyte and fibroblast cultures showed monosomy X with mosaicism for the ring X chromosome; thus, at least in lymphocytes, she lacked a normal TAZ allele.
* A second affected female with pathogenic TAZ variant c.253insC (p.Arg85ProfsTer54) in exon 3 had left ventricular noncompaction and hypotonia. Skewed X inactivation (presumably where the X chromosome with the nonmutated TAZ was preferentially inactivated) was identified in her blood [Avdjieva-Tzavella et al 2016].
### Genotype-Phenotype Correlations
In general, genotype-phenotype correlations have not been found [Johnston et al 1997, Rigaud et al 2013].
### Prevalence
As of 2020, an estimated 230-250 males have been identified with Barth syndrome worldwide [Miller et al 2020]. Estimates of the prevalence of Barth syndrome range from 1:140,000 live births in South West England and South Wales [Clarke et al 2013] to 1:300,000-1:400,000 based on new diagnoses in the United States each year [Kelley 2002], to 1.5 cases per million births (95% CI: 0.2-2.3) based on data from France between 1995 and 2008 [Rigaud et al 2013]. A Bayesian analysis to estimate Barth syndrome prevalence based on subsets of individuals with Barth syndrome included in publications describing the incidence and prevalence of cardiomyopathy and neutropenia estimates the prevalence of Barth syndrome at 1 per million males [Miller et al 2020].
## Differential Diagnosis
Disorders in which excretion of 3-methylglutaconate is increased. Increased urinary excretion of the branched-chain organic acid 3-methylglutaconate (3-MGC) is a relatively common finding in children investigated for suspected inborn errors of metabolism [Gunay-Aygun 2005]. 3-MGC is an intermediate of leucine degradation and the mevalonate shunt pathway that links sterol synthesis with mitochondrial acetyl-CoA metabolism.
A classification of inborn errors of metabolism with 3-methylglutaconic aciduria (3-MGCA) as the discriminative feature was published by Wortmann et al [2013a] and Wortmann et al [2013b]. Clinical features (see Table 4) and biochemical findings of syndromes associated with 3-MGCA vary. Tissues with higher requirements for oxidative metabolism, such as the central nervous system and cardiac and skeletal muscle, are predominantly affected.
### Table 4.
Inborn Errors of Metabolism with 3-Methylglutaconic Aciduria as a Discriminative Feature
View in own window
GeneMOIDisorderKey Clinical Characteristics (in addition to 3-MGCA)
AGKARSengers syndrome
(See Mitochondrial DNA Maintenance Defects Overview.)
* Cataracts; cardiomyopathy
* DD 1
ATAD3AAD
ARHarel-Yoon syndrome (OMIM 617183)DD; hypotonia; optic atrophy; axonal neuropathy; hypertrophic cardiomyopathy 2
AUHARAUH defect (OMIM 250950)Adult-onset progressive spasticity & dementia w/characteristic slowly developing radiologic picture of extensive leukoencephalopathy 3, 4
CLPBARCLPB deficiency
* Cataracts; central hypopnea; DD & ID; movement disorder; neutropenia
* Epilepsy 1
DNAJC19ARDNAJC19 defect (DCMA syndrome) (OMIM 610198)Characteristic combination of childhood-onset dilated cardiomyopathy, nonprogressive cerebellar ataxia, testicular dysgenesis, & growth failure
HTRA2ARMGCA8 (OMIM 617248)Cataracts; central hypopnea; DD & ID; epilepsy; movement disorder; neutropenia
MICOS13
(C19orf70,
QIL1)ARCombined oxidative phosphorylation deficiency 37 (OMIM 618329)Hypotonia; failure to thrive; neurodegeneration w/loss of developmental milestones; liver dysfunction
OPA3ARCosteff syndromeOptic atrophy; movement disorder (ataxia or extrapyramidal disorder)
SERAC1ARMEGDEL syndrome (SERAC1 defect)
* DD & ID; deafness; movement disorder
* Epilepsy & optic atrophy 1
TAZXLBarth syndrome (topic of this GeneReview)In males, cardiomyopathy (left ventricular noncompaction), neutropenia, myopathy, typical facial features, hypocholesterolemia, & a cognitive phenotype
TIMM50ARMGCA9 (OMIM 617698)DD & ID; epilepsy
TMEM70ARTMEM70 defect
* Typically neonatal onset w/muscular hypotonia, hypertrophic cardiomyopathy, psychomotor disability, hyperammonemia, & lactic acidosis
* Children surviving neonatal period later show DD; phenotypic spectrum is variable.
3-MGCA = 3-methylglutaconic aciduria; DD = developmental delay; ID = intellectual disability; MOI = mode of inheritance; XL = X-linked
Adapted from Table 1 in Kovacs-Nagy et al [2018]
1\.
Seen in some individuals
2\.
Harel et al [2016]
3\.
Wortmann et al [2010]
4\.
AUH defect is the only one of the five inborn errors of metabolism with 3-MGA-uria with a distinct biochemical finding: elevated urinary excretion of 3-hydroxyisovaleric acid (3-HIVA).
Cardiomyopathy. Left ventricular noncompaction (LVNC) is seen in other genetic syndromes as an isolated finding or associated with other congenital cardiac malformations.
Other genes in which pathogenic variants can lead to isolated cardiomyopathy with left ventricular noncompaction include: LDB3, ACTC1, MYH7, MIB1, PRDM16, TNNT2, TPM1, and MYBPC3 (OMIM PS604169). Given the considerable phenotypic overlap, it can be quite difficult to differentiate the phenotypes on the basis of specific genetic cause. However, as none of these other genes is on the X chromosome, a family history suggestive of X-linked inheritance (i.e., affected males related through unaffected females) can point to Barth syndrome. Often, the most efficient way to determine the responsible gene is through molecular genetic testing using a multigene panel.
LVNC and skeletal myopathy can be seen in Duchenne muscular dystrophy, with a prevalence as high as 28% [Statile et al 2013]. However, in Duchenne muscular dystrophy (in contrast to Barth syndrome) the LVNC tends to worsen over time.
Neutropenia. The differential for isolated neutropenia is wide and includes several notable genetic conditions:
* ELANE-related neutropenia is an autosomal dominant disorder associated with either congenital neutropenia or cyclic neutropenia, both of which are primary hematologic disorders characterized by recurrent fever, skin and oropharyngeal inflammation (i.e., mouth ulcers, gingivitis, sinusitis, and pharyngitis), and cervical adenopathy.
* Kostmann syndrome (OMIM 610738) is an autosomal recessive form of severe congenital neutropenia. Klein et al [2007] identified homozygous pathogenic variants in HAX1 (encoding HCLS1-associated protein X-1) in several individuals with Kostmann syndrome.
* Mutation of G6PC3 (encoding glucose-6-phosphate 3) results in an autosomal recessive form of severe congenital neutropenia [Klein 2011]. (See G6PC3 Deficiency.)
* Benign familial neutropenia is an autosomal dominant form of congenital neutropenia with milder neutropenia and less severe symptoms.
## Management
Consensus clinical management recommendations for Barth syndrome have not been published.
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in a male diagnosed with Barth syndrome, the evaluations summarized in Table 5 (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Note: In the very rare event that a heterozygous female has signs and/or symptoms of Barth syndrome, evaluation and treatment should follow what is recommended for affected males.
### Table 5.
Recommended Evaluations Following Initial Diagnosis in a Male with Barth Syndrome
View in own window
System/ConcernEvaluationComment
CardiacElectrocardiographyTo evaluate for hypertrophy, QTc, & arrythmia
EchocardiographyTo evaluate for cardiac muscle structure (size/noncompaction) strain & function
ImmuneComplete blood count w/differentialTo evaluate for neutropenia
NeuromuscularNeurologic exam for signs of muscle weakness & hypotonia
ConstitutionalMeasurement of growth parametersConsider plotting on the Barth syndrome specific growth charts. 1
GastrointestinalGastroenterology / nutrition / feeding team eval
* To incl eval of weight gain & nutritional status
* Consider eval for gastric tube placement in those w/poor weight gain.
DevelopmentDevelopmental assessment
* To include motor, adaptive, & cognitive assessments
* Evaluation for early intervention/special education based on age
Genetic
counselingBy genetics professionals 2To inform affected males & families re nature, MOI, & implications of Barth syndrome to facilitate medical & personal decision making
Family support/
resourcesAssess:
* Use of community or online resources such as Parent to Parent;
* Need for social work involvement for parental support.
MOI = mode of inheritance
1\.
Derived from Roberts et al [2012; see Figure 1a-d]
2\.
Medical geneticist, certified genetic counselor, or certified advanced genetics nurse
### Treatment of Manifestations
### Table 6.
Treatment of Manifestations in Individuals with Barth Syndrome
View in own window
Manifestation/
ConcernTreatmentConsiderations/Other
Heart failureStandard treatment 1 incl careful fluid & volume mgmt & avoidance of overdiuresis & dehydration
Standard HF medications are used to improve symptoms, effect reverse remodeling of the ventricle, & improve ventricular function as measured by EF. 2
* ACE inhibitors & beta blockers for typical outpatient mgmt 3
* IV inotropes incl milrinone for in-patient mgmt of acute decompensation
Cardiac transplantation has been successful when HF is severe & intractable. 4Given the natural history of improving ventricular function after infancy, cardiac transplantation should be carefully considered.
Cardiac
arrhythmiaConsideration of antiarrhythmic medications or implantable cardiac defibrillatorUse of these therapies prophylactically for prevention of primary arrhythmia has not been clarified. Long-term implantable cardiac monitoring devices can be considered for those at risk.
NeutropeniaG-CSF of 2-3 μg/kg/dose w/frequency of administration ranging from 2x/wk to every other day 5, 6, 7
* Consider regular administration of G-CSF (i.e., not only during times of high risk, e.g., surgery or infection).
* Consider prophylactic antibiotics (see Prevention of Secondary Complications).
Skeletal muscle
weaknessPTTo aid in attainment of developmental milestones & functional outcomes while monitoring cardiovascular status 8
Talipes
equinovarus
&/or scoliosisStandard treatment per orthopedist
Poor weight
gain / Failure
to thrive
* Feeding therapy
* Gastrostomy tube placement may be required for persistent feeding issues.
Low threshold for clinical feeding eval when showing poor weight gain
Hypoglycemia/
NutritionUncooked cornstarch given prior to bedtime
* To avoid muscle protein loss overnight
* Specific dosing by age & weight can be obtained from the Barth Syndrome Foundation. 9
DD/IDSee Developmental Delay / Intellectual Disability Management Issues.
Family/
Community
* Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
* Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
Consider involvement in adaptive sports or Special Olympics.
ACE = angiotensin-converting enzyme; DD = developmental delay; EF = ejection fraction; G-CSF = granulocyte colony-stimulating factor; HF = heart failure; ID = intellectual disability; IV = intravenous; PT = physical therapy
1\.
See Kirk et al [2014] for pediatric heart failure management and Yancy et al [2017] for adult heart failure management guidelines.
2\.
Although no studies are available to evaluate the effectiveness of medical therapy in males with Barth syndrome, when medications are stopped a decline in heart function is often observed. However, this can sometimes be difficult to distinguish from the natural fluctuations of the clinical phenotype (Clinical Description, Heart failure).
3\.
Therapy received by 22 individuals in the French cohort [Rigaud et al 2013] included: 16/22 beta blockers, 9/22 beta blockers, 11/22 digoxin, 17/22 diuretics, 5/22 anticoagulants, and 5/22 aspirin.
4\.
Mangat et al [2007], Roberts et al [2012]
5\.
Clarke et al [2013]
6\.
In 83 affected males, 42 of whom had been treated with G-CSF, the median dose was 2.78±0.78 μg/kg/dose (range: 0.45-12.8 μg/kg/dose) [Dale et al 2013]. On average, G-CSF was begun at age 5.8 years, with an average exposure of 7.3 years; none developed acute myeloid leukemia, and treatment responses to G-CSF were maintained long-term.
7\.
Although neutropenia appears to improve with G-CSF treatment, in the French cohort in which six affected males were actively treated with G-CSF, two developed a severe infection, including one episode of septic shock [Rigaud et al 2013].
8\.
Jarvis et al [2001]
9\.
Avery [2006]
#### Developmental Delay / Intellectual Disability Management Issues
The following information represents typical management recommendations for individuals with developmental delay/learning disability in the United States; standard recommendations may vary from country to country.
Ages 0-3 years. Referral to an early intervention program is recommended for access to occupational, physical, speech, and feeding therapy as well as infant mental health services and special educators. In the US, early intervention is a federally funded program available in all states that provides in-home services to target individual therapy needs.
Ages 3-5 years. In the US, developmental preschool through the local public school district is recommended. Before placement, an evaluation is made to determine needed services and therapies and an individualized education plan (IEP) is developed for those who qualify based on established motor, language, or social delay. The early intervention program typically assists with this transition. Developmental preschool is center based; for children too medically unstable to attend, home-based services are provided.
All ages. Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies (US) and to support parents in maximizing quality of life. Some issues to consider:
* Individualized education plan (IEP) services:
* An IEP provides specially designed instruction and related services to children who qualify.
* IEP services will be reviewed annually to determine whether any changes are needed.
* As required by special education law, children should be in the least restrictive environment feasible at school and included in general education as much as possible and when appropriate.
* PT, OT, and speech services will be provided in the IEP to the extent that the need affects the child's access to academic material. Beyond that, private supportive therapies based on the affected individual's needs may be considered. Specific recommendations regarding type of therapy can be made by a developmental pediatrician.
* As a child enters the teen years, a transition plan should be discussed and incorporated in the IEP. For those receiving IEP services, the public school district is required to provide services until age 21.
* The excessive fatigue that boys with Barth syndrome experience and the characteristic cognitive phenotype (see Clinical Description) warrant educational support during the early school-age years [Mazzocco et al 2007] with particular attention to mathematics [Raches & Mazzocco 2012].
* A 504 plan (Section 504: a US federal statute that prohibits discrimination based on disability) can be considered for those who require accommodations or modifications such as front-of-class seating, assistive technology devices, classroom scribes, extra time between classes, modified assignments, and enlarged text.
* Developmental Disabilities Administration (DDA) enrollment is recommended. DDA is a US public agency that provides services and support to qualified individuals. Eligibility differs by state but is typically determined by diagnosis and/or associated adaptive disabilities.
* Families with limited income and resources may also qualify for supplemental security income (SSI) for their child with a disability.
#### Gross Motor Dysfunction
Physical therapy is recommended to maximize strength.
#### Social/Behavioral Concerns
Consultation with a developmental pediatrician may be helpful in guiding parents through appropriate behavior management strategies or providing prescription medications, when necessary.
### Prevention of Secondary Complications
### Table 7.
Prevention of Secondary Complications in Males with Barth Syndrome
View in own window
Manifestation/
ConcernPreventive MeasureConsiderations/Other
Blood clot
formationAspirin therapy
* 5 mg/kg daily for children
* 81-325 mg daily for adults
For prevention of clot formation (& thus ↓ in risk for stroke) in males w/severe cardiac dysfunction &/or marked LVNC
InfectionsAntibiotic prophylaxis 1To prevent recurrent infections
HypoglycemiaEpisodes of fasting (e.g., prior to surgery) should be as short as possible & accompanied by IV glucose infusion.Schlame [2013]
HyperkalemiaRegular monitoring of potassium levels during administration of IV fluids that contain potassiumAffected males lack normal muscle "reservoir" for potassium & can rapidly develop hyperkalemia when given IV fluids containing potassium.
HypokalemiaRegular monitoring of potassium levels during episodes of diarrheaAffected males can rapidly become potassium depleted during a GI illness due to marked muscular hypoplasia. 2
Chronic
diarrhea
induced by
overfeedingConsultation w/nutritionist/gastroenterologist to determine optimal caloric delivery
* Males w/Barth syndrome have lower-than-normal caloric requirements. 2
* Attempts to induce growth by overfeeding can lead to chronic diarrhea.
GI = gastrointestinal; IV = intravenous; LVNC = left ventricular noncompaction
1\.
In the French study of 22 affected males, four received antibiotic prophylaxis [Rigaud et al 2013].
2\.
Kelley [2002]
### Surveillance
### Table 8.
Recommended Surveillance for Males with Barth Syndrome
View in own window
System/ConcernEvaluationFrequency
Cardiac 1Electrocardiography w/Holder monitoringAt least annually
EchocardiographyAt least annually or more frequently depending on clinical status
Electrophysiologic study to assess for a potentially serious arrhythmiaAs needed & for eval of symptoms incl palpitations & syncope, abnormal arrhythmia screening tests, or family history of sudden death
ImmuneComplete blood count w/differentialWith all febrile episodes & semi-annually (or more frequently based on history & symptoms)
NeuromuscularClinical assessment of strength & for scoliosisAt each visit
ConstitutionalMeasurement of height & weight 2
NeurocognitiveMonitor developmental progress & educational needs.
Formal developmental assessmentsEvery 3-5 yrs during childhood
Miscellaneous/
OtherAssess family need for social work support (e.g., respite care, home nursing, other local resources) & care coordination.At each visit
1\.
Spencer et al [2005]
2\.
Consideration of Barth syndrome-specific growth patterns [Roberts et al 2012].
### Agents/Circumstances to Avoid
Avoid the following:
* Prolonged fasting because of a predisposition to hypoglycemia
* The use of rectal thermometers in those with neutropenia
* The use of succinylcholine, as nondepolarizing neuromuscular blockers could have a prolonged effect [Schlame 2013]
The use of human growth hormone is usually discouraged, as the majority of affected males will attain normal stature by adulthood.
Although the use of sevoflurane has been reported without adverse effects, the muscular involvement in Barth syndrome may increase the risk for malignant hyperthermia compared to the general population [Schlame 2013].
### Evaluation of Relatives at Risk
It is appropriate to evaluate the older and younger brothers of a proband in order to identify as early as possible those who would benefit from initiation of treatment and preventive measures.
* If the TAZ pathogenic variant in the family is known, molecular genetic testing can be used to clarify the genetic status of at-risk male sibs.
* If the TAZ pathogenic variant in the family is not known, testing by means of monolysocardiolipin:cardiolipin (MLCL:CL) ratio (if available) can be used to clarify the genetic status of at-risk male sibs. Note: MLCL:CL measurement is not appropriate for evaluation of the genetic status of females.
* If MLCL:CL ratio is not available, a combination of urine organic acid analysis, complete blood count with differential, and echocardiogram may be able to clarify the genetic status of at-risk male sibs. However, such testing cannot exclude a diagnosis of Barth syndrome.
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Pregnancy Management
Given that Barth syndrome has been variably associated with different prenatal complications including intrauterine growth restriction, oligohydramnios, intrauterine ventricular dysfunction, and hydrops fetalis [Cardonick et al 1997, Steward et al 2010], it appears prudent to recommend that pregnancies of male fetuses known to have Barth syndrome be managed by a high-risk maternal fetal obstetrician. Of note, there are no specific recommendations regarding mode, timing, or location of delivery.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
### Other
Pantothenic acid. The original report of successful treatment of Barth syndrome with pantothenic acid [Ostman-Smith et al 1994] was not substantiated by later reports [Kelley 2002, Rugolotto et al 2003].
Coenzyme Q10. The rationale behind the use of coenzyme Q10 is based on the fact that both coenzyme Q10 and 3-methylglutaconic acid (3-MGC) can be produced from dimethylallyl pyrophosphate (DMAPP), an intermediate in the synthesis of cholesterol. Thus, if coenzyme Q10 production is impaired, more DMAPP could potentially be shunted toward the production of 3-MGC [Costeff et al 1998]. However, no formal study has been undertaken to prove the efficacy of coenzyme Q10 therapy in males with Barth syndrome. In a study of 15 males with Barth syndrome, three took coenzyme Q10 [Spencer et al 2011].
Carnitine. Although early reports claimed significant benefit from carnitine supplementation in males with Barth syndrome [Ino et al 1988], subsequent reports identified rapid deterioration in cardiac function in some cases with carnitine supplementation [Ostman-Smith et al 1994, Kelley 2002]. Thus, unless plasma carnitine levels are low, its supplementation has no role in the treatment of Barth syndrome.
Arginine. Because lower plasma arginine levels detected in males with Barth syndrome [Rigaud et al 2013, Vernon et al 2014] could contribute to growth delay and cardiac abnormalities by impairing protein synthesis, it has been proposed that oral arginine supplementation be used. Improvements in ventricular function have also been noted concurrently with normalization of the amino acid profile [R Kelley, personal communication]. However, to date no formal assessments of the efficacy of this treatment have been published.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Barth Syndrome
|
c0574083
| 26,304 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK247162/
| 2021-01-18T21:40:14 |
{"mesh": ["D056889"], "synonyms": []}
|
Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity varies among affected individuals.
Mucus is a slippery substance that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues. In people with cystic fibrosis, the body produces mucus that is abnormally thick and sticky. This abnormal mucus can clog the airways, leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and inflammation. Over time, mucus buildup and infections result in permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs.
Most people with cystic fibrosis also have digestive problems. Some affected babies have meconium ileus, a blockage of the intestine that occurs shortly after birth. Other digestive problems result from a buildup of thick, sticky mucus in the pancreas. The pancreas is an organ that produces insulin (a hormone that helps control blood sugar levels). It also makes enzymes that help digest food. In people with cystic fibrosis, mucus often damages the pancreas, impairing its ability to produce insulin and digestive enzymes. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight loss. In adolescence or adulthood, a shortage of insulin can cause a form of diabetes known as cystic fibrosis-related diabetes mellitus (CFRDM).
Cystic fibrosis used to be considered a fatal disease of childhood. With improved treatments and better ways to manage the disease, many people with cystic fibrosis now live well into adulthood. Adults with cystic fibrosis experience health problems affecting the respiratory, digestive, and reproductive systems. Most men with cystic fibrosis have congenital bilateral absence of the vas deferens (CBAVD), a condition in which the tubes that carry sperm (the vas deferens) are blocked by mucus and do not develop properly. Men with CBAVD are unable to father children (infertile) unless they undergo fertility treatment. Women with cystic fibrosis may experience complications in pregnancy.
## Frequency
Cystic fibrosis is a common genetic disease within the white population in the United States. The disease occurs in 1 in 2,500 to 3,500 white newborns. Cystic fibrosis is less common in other ethnic groups, affecting about 1 in 17,000 African Americans and 1 in 31,000 Asian Americans.
## Causes
Mutations in the CFTR gene cause cystic fibrosis. The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. Chloride is a component of sodium chloride, a common salt found in sweat. Chloride also has important functions in cells; for example, the flow of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus.
Mutations in the CFTR gene disrupt the function of the chloride channels, preventing them from regulating the flow of chloride ions and water across cell membranes. As a result, cells that line the passageways of the lungs, pancreas, and other organs produce mucus that is unusually thick and sticky. This mucus clogs the airways and various ducts, causing the characteristic signs and symptoms of cystic fibrosis.
Other genetic and environmental factors likely influence the severity of the condition. For example, mutations in genes other than CFTR might help explain why some people with cystic fibrosis are more severely affected than others. Most of these genetic changes have not been identified, however.
### Learn more about the gene associated with Cystic fibrosis
* CFTR
## 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Cystic fibrosis
|
c0010674
| 26,305 |
medlineplus
|
https://medlineplus.gov/genetics/condition/cystic-fibrosis/
| 2021-01-27T08:24:51 |
{"gard": ["6233"], "mesh": ["D003550"], "omim": ["219700"], "synonyms": []}
|
## Clinical Features
Patterson and Lauder (1948) described 1 family with onset of anosmia for butyl mercaptan in middle age in mother and all 3 children. In each of 2 other families, a single individual of normal parents could not smell butyl mercaptan but could smell other odors.
Inheritance
Admitting the meagerness of the material, Patterson and Lauder (1948) raised the question of recessive inheritance of this apparently congenital form of smell-blindness for butyl mercaptan.
INHERITANCE \- Autosomal recessive HEAD & NECK Nose \- Anosmia for N-butyl mercaptan ▲ 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
ANOSMIA FOR BUTYL MERCAPTAN
|
c1849192
| 26,306 |
omim
|
https://www.omim.org/entry/270350
| 2019-09-22T16:22:16 |
{"omim": ["270350"], "synonyms": ["Alternative titles", "SKUNK N-BUTYL MERCAPTAN, INABILITY TO SMELL"]}
|
## Summary
The purpose of this overview is to increase the awareness of clinicians regarding Alzheimer disease (AD) and its genetic causes and management.
The following are the goals of this overview.
### Goal 1.
Describe the clinical characteristics of AD.
### Goal 2.
Review the genetic causes of AD.
### Goal 3.
Provide an evaluation strategy to identify the genetic cause of AD in a proband (when possible).
### Goal 4.
Inform genetic counseling of family members of an individual with AD.
## 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Alzheimer Disease Overview
|
None
| 26,307 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK1161/
| 2021-01-18T21:43:08 |
{"synonyms": []}
|
Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.
## Epidemiology
To date, more than 40 cases of TC have been described in the literature.
## Clinical description
TC typically manifests in the first few months of life. Patients present with one or more of the following signs: weight loss, failure to thrive, diarrhea, vomiting, lethargy, irritability, pallor, ulcers of oral mucous membranes and impaired development. Myoclonus, decreased reflexes in the lower extremities and toe-walking may be observed. Severe infections (i.e. Pneumocystis carinii, pneumococcal meningitis, Escherichia coli, urinary tract infection, Salmonella sepsis, aseptic meningitis and gastro-enteritis) in the first year of life are also reported. In rare cases, the disease may be asymptomatic. Metabolic stroke and peripheral neuropathy have been observed in one case.
## Etiology
TC is caused by mutations in the TCN2 gene (22q12.2) which encodes transcobalamin, a transporter of cobalamin (vitamin B12). Cobalamin has an important role in the metabolism of both homocysteine and methylmalonic acid as a cofactor for methionine synthase and methylmalonyl-CoA mutase, respectively. Methionine synthase helps to maintain levels of methionine and its derivative, S-adenosylmethionine, which is required for neurotransmitter synthesis and methylation of DNA, RNA, lipids and proteins. It also prevents accumulation of homocysteine.
## Diagnostic methods
Diagnosis is based on laboratory findings showing pancytopenia (or isolated megaloblastic anemia or combined anemia and leucopenia) and accumulation of homocysteine and methylmalonic acid. Methionine concentration may be reduced. Serum cobalamin levels are typically not low (most circulating cobalamin bound to haptocorrin). Reduction of unsaturated B12 binding capacity (test must be carried out before starting treatment with vitamin B12) and Holo- TC levels are observed. Diagnosis is confirmed by quantification of total transcobalamin in serum or plasma or by genetic screening of TCN2. Postnatal diagnosis may be achieved by screening newborn serum by tandem mass spectroscopy to detect the presence of C3-carnitines derived from methylmalonic acid.
## Differential diagnosis
Differential diagnosis includes inherited disorders of intestinal cobalamin absorption (Gräsbeck-Imerslund disease and congenital intrinsic factor deficiency); inborn errors of cellular cobalamin metabolism, in particular the forms resulting in combined homocystinuria and methylmalonic aciduria (cblC, cblD, cblF, cblJ and cblX); and pernicious anemia (see these terms).
## Antenatal diagnosis
Prenatal diagnosis is based on genetic screening of TCN2 or incubation of amniocytes in medium lacking any exogenous source of transcobalamin supplemented with radiolabeled cobalamin followed by measurement of transcobalamin-bound cobalamin.
## Genetic counseling
Transmission is autosomal recessive.
## Management and treatment
Treatment of TC involves maintenance of a very high serum cobalamin concentration (1,000-10,000 pg/ml) by intramuscular (IM) administration of hydroxocobalamin. Oral treatment or treatment with cyanocobalamin instead of hydroxocobalamin may result in poorer outcomes. Treatment with IM hydroxocobalamin at least once a week is recommended, with monitoring of biochemical and hematological parameters to ensure that treatment is effective. Follow-up into adulthood for asymptomatic children who continue to have abnormal metabolite excretion is recommended.
## Prognosis
TC is a severe, life-threatening and rapidly progressing disease. Treatment, started early, is highly effective and reverses the clinical and hematological manifestations of the disease. If left untreated, immunologic deficiency (marked hypogammaglobulinemia with absence of specific antibody production after antigenic stimulation) and neurological problems (severe intellectual disabilities, ataxia, and pyramidal deficit) can develop.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Transcobalamin deficiency
|
c0342701
| 26,308 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=859
| 2021-01-23T17:45:42 |
{"omim": ["275350"], "umls": ["C0342701"], "icd-10": ["D51.2"], "synonyms": ["Inherited deficiency of transcobalamin", "Transcobalamin II deficiency"]}
|
Ciliated cyst of the vulva
SpecialtyDermatology
Ciliated cyst of the vulva (also known as "Cutaneous Müllerian cyst,"[1] and "Paramesonephric mucinous cyst of the vulva"[1]) is a cutaneous condition characterized by a cyst of the vulva.[1]
## See also[edit]
* Ceruminoma
* List of cutaneous conditions
## References[edit]
1. ^ a b c Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Ciliated cyst of the vulva
|
None
| 26,309 |
wikipedia
|
https://en.wikipedia.org/wiki/Ciliated_cyst_of_the_vulva
| 2021-01-18T19:11:00 |
{"wikidata": ["Q5119953"]}
|
Genetic disease in Quarter Horses, Appaloosas, and Paint Horses
Hereditary equine regional dermal asthenia (HERDA), also known as hyperelastosis cutis (HC), is an inherited autosomal recessive connective tissue disorder. It develops from a homozygous recessive mutation that weakens collagen fibers that allow the skin of the animal to stay connected to the rest of the animal. Affected horses have extremely fragile skin that tears easily and exhibits impaired healing. In horses with HC, the skin separates between the deep and superficial dermis. There is no cure. Most affected individuals receive an injury they cannot heal, and are euthanized. Managed breeding strategy is currently the only option for reducing the incidence of the disease.
The disease is found primarily in the American Quarter Horse, specifically in cutting horse lines. Affected horses have been found to trace to the stallion Poco Bueno, or possibly, farther back to one of his ancestors.[1] Researchers have now named four deceased Quarter Horse stallions that were carriers and produced at least one affected HERDA foal; they are Dry Doc, Doc O'Lena, Great Pine, and Zippo Pine Bar. These stallions all trace to Poco Bueno through his son and daughter Poco Pine and Poco Lena. Other breeds affected are the American Paint Horse, and the Appaloosa and any other breed registry that allows outcrossing to AQHA[clarification needed] horses.
HERDA is characterized by abnormal skin along the back that tears or rips easily and heals into disfiguring scars. The skin is loose, and hyper-elastic in affected horses. This collagen based abnormality affects their heart valves too and their mechanical properties are found to be inferior to native horses.[2] Symptoms typically don’t appear until the horse is subjected to pressure or injury on their back, neck or hips, usually around two years of age. However foals can show signs when injured, while other horses mature and only show signs in the joints.[3] The expression of HERDA is variable, and the phenotypic range of expression is still being determined.
After being tested, the results either show "normal", "carrier" or "affected" and can be determined by DNA testing of either a blood or hair sample.
* N/N — Normal: does not have the HERDA gene
* N/HRD- Carrier: carries one copy of the gene
* HRD/HRD- Affected: has two copies of the gene
The expected lifespan of an affected horse is 2–4 years. There is currently no cure for this disease. To prevent it from occurring, the only solution is not to breed horses who both carry the HERDA allele.
## History[edit]
The disease first was recognized in 1971. Research of affected animals indicated that 95% of the identified HERDA horses have traced back to Poco Bueno on both sides of the pedigree. Some also trace to his full brother, Old Grand Dad. The remaining 5% trace to King, the sire of both horses. This may suggest that Poco Bueno could have inherited the HC mutation from his sire, with the possibility that the condition goes even further back. It is difficult to trace the condition further because no pedigrees to date completely distinguish the lines of King.[citation needed]
A disease consistent with HERDA/HC was described in the scientific literature in 1988 documenting two related affected Quarter Horses.[4] Researchers at Mississippi State University described a separation of the upper and lower dermis associated with a loose packing of collagen fibrils in a one-year-old filly with hyperelastosis cutis.[5] In 2004, clinical veterinarians at the University of California, Davis first coined the term hereditary equine regional dermal asthenia (HERDA) after examining 50 horses with stereotypical presentation of the disease.[6] Shortened and thinned collagen fibrils in the deep dermis was the significant characteristic shared among the affected skin of diseased horses.
Throughout the years, closely breeding back, or inbreeding, to the lines of Poco Bueno increased the frequency of homozygousity in the population, thus increasing the number of affected animals. The 2004 Quarter Horse News Stallion Register revealed that of the top 100 cutting horse stallions, 14 are known HERDA carriers. Today, approximately 28% of all horses of cutting horse bloodlines are carriers of HERDA.[citation needed]
Using DNA from the UC Davis clinical collection of HERDA samples, collaborating UC Davis geneticists searched for discreet areas of DNA that were homozygous, or identical by descent, uniquely in affected horses. UC Davis first reported successful preliminary mapping in January 2004.[7] Additional work verified the disease was inherited, rather than caused solely by environmental insult, and strongly indicated an autosomal recessive mode of inheritance.[8] In January 2007, UC Davis presented their findings at the Plant and Animal Genome Conference Equine Workshop indicating the ability to identify horses that carry HERDA.[9] A full accounting of this work, detailing the mapping and identification of a mutation in the gene coding for peptidylprolyl isomerase B, was published on May 11, 2007.[10] Concurrent with publication of these results, the Veterinary Genetics Laboratory at UC Davis began offering a genetic test to identify carriers of the disease allele.
In the spring of 2007, researchers working independently at Cornell University and at the University of California, Davis announced that a DNA test for HERDA had been developed. Over 1,500 horses were tested during the development phase of the test, which was initially available to the general public through both institutions.[11] A United States patent for the HERDA test was issued to UC Davis[12] on October 27, 2009.
## References[edit]
1. ^ "HERDA Traces to Poco Bueno". Archived from the original on 2007-02-07. Retrieved 2007-02-08.
2. ^ Brinkman, Erin L.; Weed, Benjamin C.; Patnaik, Sourav S.; Brazile, Bryn L.; Centini, Ryan M.; Wills, Robert W.; Olivier, Bari; Sledge, Dodd G.; Cooley, Jim (2017-03-01). "Cardiac findings in Quarter Horses with heritable equine regional dermal asthenia". Journal of the American Veterinary Medical Association. 250 (5): 538–547. doi:10.2460/javma.250.5.538. ISSN 1943-569X. PMID 28207320.
3. ^ Have you Heard of HERDA accessed on July 10, 2007
4. ^ Hardy MH, Fisher KR, Vrablic OE, et al. (August 1988). "An inherited connective tissue disease in the horse". Laboratory Investigation. 59 (2): 253–62. PMID 3404977.
5. ^ Brounts SH, Rashmir-Raven AM, Black SS (August 2001). "Zonal dermal separation: a distinctive histopathological lesion associated with hyperelastosis cutis in a Quarter Horse". Veterinary Dermatology. 12 (4): 219–24. doi:10.1046/j.0959-4493.2001.00256.x. PMID 11493407.
6. ^ White SD, Affolter VK, Bannasch DL, et al. (August 2004). "Hereditary equine regional dermal asthenia ("hyperelastosis cutis") in 50 horses: clinical, histological, immunohistological and ultrastructural findings". Veterinary Dermatology. 15 (4): 207–17. doi:10.1111/j.1365-3164.2004.00402.x. PMID 15305927.
7. ^ Homozygosity mapping of the HERDA locus in horse. http://www.intl-pag.org/12/abstracts/P5n_PAG12_695.html Archived 2011-06-03 at the Wayback Machine
8. ^ Tryon, Robert C.; White, Stephen D.; Famula, Thomas R.; Schultheiss, Patricia C.; Hamar, Dwayne W.; Bannasch, Danika L. (March 2005). "Inheritance of hereditary equine regional dermal asthenia in Quarter Horses". American Journal of Veterinary Research. 66 (3): 437–442. doi:10.2460/ajvr.2005.66.437. PMID 15822588.
9. ^ Genetic identification of horses that carry hereditary equine regional dermal asthenia (HERDA). http://www.intl-pag.org/15/abstracts/PAG15_P05o_600.html Archived 2011-06-03 at the Wayback Machine
10. ^ Tryon RC, White SD, Bannasch DL (July 2007). "Homozygosity mapping approach identifies a missense mutation in equine cyclophilin B (PPIB) associated with HERDA in the American Quarter Horse". Genomics. 90 (1): 93–102. doi:10.1016/j.ygeno.2007.03.009. PMID 17498917.
11. ^ Sellnow, Les. "HERDA: DNA Tests Available for Disfiguring Skin Disease". The Horse. Online News. Retrieved 2007-05-31.
12. ^ Bannasch; et al. (2009). "Methods for detecting a cyclophilin B SNP associated with HERDA". Retrieved September 2, 2016.
## External links[edit]
* Horsetalk.co.nz: HERDA a debilitating genetic skin condition
* Pictures of HERDA Horses
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Hereditary equine regional dermal asthenia
|
c3670031
| 26,310 |
wikipedia
|
https://en.wikipedia.org/wiki/Hereditary_equine_regional_dermal_asthenia
| 2021-01-18T18:40:15 |
{"wikidata": ["Q5737839"]}
|
Various unusual varieties of folding of the helix and other parts of the ear are described in families, usually as an autosomal dominant 'with variable expressivity and reduced penetrance.' See Schrudde and Petrovici (1979) for unusual dysmorphic pinnae in 12 persons in 5 generations.
Inheritance \- Autosomal dominant Ears \- Folded ear helix ▲ 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
EAR FOLDING
|
c1851901
| 26,311 |
omim
|
https://www.omim.org/entry/128500
| 2019-09-22T16:41:59 |
{"omim": ["128500"]}
|
Not to be confused with Colloid cyst.
Choledochal cysts
Other namesBile duct cyst
Different types of choledochal cysts
SpecialtyMedical genetics
Choledochal cysts (a.k.a. bile duct cyst) are congenital conditions involving cystic dilatation of bile ducts.[1] They are uncommon in western countries[2] but not as rare in East Asian nations like Japan and China.
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 2.1 Types
* 3 Treatment
* 4 References
* 5 External links
## Signs and symptoms[edit]
Most patients have symptoms in the first year of life. It is rare for symptoms to be undetected until adulthood, and usually adults have associated complications. The classic triad of intermittent abdominal pain, jaundice, and a right upper quadrant abdominal mass is found only in minority of patients.[citation needed]
In infants, choledochal cysts usually lead to obstruction of the bile ducts and retention of bile. This leads to jaundice and an enlarged liver. If the obstruction is not relieved, permanent damage may occur to the liver - scarring and cirrhosis \- with the signs of portal hypertension (obstruction to the flow of blood through the liver) and ascites (fluid accumulation in the abdomen). There is an increased risk of cancer in the wall of the cyst.[citation needed]
In older individuals, choledochal cysts are more likely to cause abdominal pain and intermittent episodes of jaundice and occasionally cholangitis (inflammation within the bile ducts caused by the spread of bacteria from the intestine into the bile ducts). Inflammation of the pancreas also may occur. The cause of these complications may be related to either abnormal flow of bile within the ducts or the presence of gallstones.[citation needed]
## Diagnosis[edit]
Direct hyperbilirubinemia
### Types[edit]
They were classified into 5 types by Todani in 1977.[3]
Classification was based on site of the cyst or dilatation. Type I to IV has been subtyped.
* Type I: Most common variety (80-90%) involving saccular or fusiform dilatation of a portion or entire common bile duct (CBD) with normal intrahepatic duct.
* Type II: These cysts are present as an isolated diverticulum protruding from the CBD.
* Type III or Choledochocele: Arise from dilatation of duodenal portion of CBD or where pancreatic duct meets.
* Type IVa: Characterized by multiple dilatations of the intrahepatic and extrahepatic biliary tree.
* Type IVb: Multiple dilatations involving only the extrahepatic bile ducts.
* Type V: Cystic dilatation of intrahepatic biliary ducts without extrahepatic duct disease. The presence of multiple saccular or cystic dilations of the intrahepatic ducts is known as Caroli's disease.[4]
* Type VI: An isolated cyst of the cystic duct is an extremely rare lesion. Only single case reports are documented in the literature. The most accepted classification system of biliary cysts, the Todani classification, does not include this lesion. Cholecystectomy with cystic duct ligation near the common bile duct is curative.[5]
## Treatment[edit]
Choledochal cysts are treated by surgical excision of the cyst with the formation of a roux-en-Y anastomosis hepaticojejunostomy/ choledochojejunostomy to the biliary duct.Future complications include cholangitis and a 2% risk of malignancy, which may develop in any part of the biliary tree. A recent article published in the Journal of Surgery suggested that choledochal cysts could also be treated with single-incision laparoscopic hepaticojejunostomy with comparable results and less scarring. In cases of saccular type of cyst, excision and placement of T-shaped tube is done.[citation needed]
Currently, there is no accepted indication for fetal intervention in the management of prenatally suspected choledochal cysts.[6][7]
## References[edit]
1. ^ "choledochal cyst" at Dorland's Medical Dictionary
2. ^ Liu YB, Wang JW, Devkota KR, et al. (2007). "Congenital choledochal cysts in adults: twenty-five-year experience". Chin. Med. J. 120 (16): 1404–7. doi:10.1097/00029330-200708020-00005. PMID 17825168.
3. ^ Todani T, Watanabe Y, Narusue M, Tabuchi K, Okajima K (1977). "Congenital bile duct cysts: Classification, operative procedures, and review of thirty-seven cases including cancer arising from choledochal cyst". Am. J. Surg. 134 (2): 263–9. doi:10.1016/0002-9610(77)90359-2. PMID 889044.
4. ^ "Biliary cysts". www.uptodate.com. Retrieved 2015-12-06.
5. ^ Conway, William C.; Telian, Simon H.; Wasif, Nabil; Gagandeep, Singh (2009). "Type VI biliary cyst: Report of a case". Surgery Today. 39 (1): 77–79. doi:10.1007/s00595-008-3789-4. PMID 19132475. S2CID 6096912.
6. ^ Coran AG, et al., eds. Pediatric Surgery. 7th ed. Philadelphia: Elsevier Saunders; 2012. Gonzales KD, Lee H. Chapter 106: Choledochal Cyst [Prenatal Diagnosis].
7. ^ Diao M, Li L, Li Q, Ye M, Cheng W (Jul 2013). "Single-incision versus conventional laparoscopic cyst excision and Roux-Y hepaticojejunostomy for children with choledochal cysts: a case-control study". World J Surg. 37 (7): 1707–13. doi:10.1007/s00268-013-2012-y. PMID 23539195. S2CID 10317608.
## External links[edit]
Classification
D
* ICD-10: Q44.4
* ICD-9-CM: 751.69
* MeSH: D015529
* DiseasesDB: 2527
External resources
* eMedicine: article/172099 article/366004 article/934267
* v
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* e
Cystic diseases
Respiratory system
* Langerhans cell histiocytosis
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* Polycystic kidney disease
* Autosomal dominant polycystic kidney
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* v
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* e
Congenital malformations and deformations of digestive system
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Accessory
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Bile duct
* Choledochal cysts
* Caroli disease
* Biliary atresia
Liver
* Alagille syndrome
* Polycystic liver 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Choledochal cysts
|
c1257797
| 26,312 |
wikipedia
|
https://en.wikipedia.org/wiki/Choledochal_cysts
| 2021-01-18T18:57:45 |
{"gard": ["9229"], "mesh": ["D015529"], "umls": ["C1257797"], "icd-9": ["751.69"], "orphanet": ["480501"], "wikidata": ["Q2027937"]}
|
Instillation abortionBackground
Abortion typeSurgical
First use1934
Last useUsage has declined in U.S. since the 1970s.
Gestation16-24 weeks
Usage
United States0.9% (2003)
Infobox references
Instillation abortion is a rarely used method of late term abortion, performed by injecting a solution into the uterus.
## Contents
* 1 Procedure
* 2 Usage
* 3 Complications
* 4 References
## Procedure[edit]
Instillation abortion is performed by injecting a chemical solution consisting of either saline, urea, or prostaglandin through the abdomen and into the amniotic sac. The cervix is dilated prior to the injection, and the chemical solution induces uterine contractions which expel the fetus.[1] Sometimes a dilation and curettage procedure is necessary to remove any remaining fetal or placenta tissue.[2]
Instillation methods can require hospitalization for 12 to 48 hours.[2] In one study, when laminaria were used to dilate the cervix overnight, the time between injection and completion was reduced from 29 to 14 hours.[3]
## Usage[edit]
The method of instillation abortion was first developed in 1934 by Eugen Aburel.[4] It is most frequently used between the 16th and 24th week of pregnancy, but its rate of use has declined dramatically in recent years.[2] In 1968, abortion by the instillation of saline solution accounted for 28% of those procedures performed legally in San Francisco, California.[5] Intrauterine instillation (of all kinds) declined from 10.4% of all legal abortions in the U.S. in 1972 to 1.7% in 1985,[6] falling to 0.8% of the total incidence of induced abortion in the United States during 2002,[7] and 0.1% in 2007.[8]
In a 1998 Guttmacher Institute survey, sent to hospitals in Ontario, Canada, 9% of those hospitals in the province which offered abortion services used saline instillations, 4% used urea, and 25% used prostaglandin.[9] A 1998 study of facilities in Nigeria which provide abortion found that only 5% of the total number in the country use saline.[10]
## Complications[edit]
Once in common practice, abortion by intrauterine instillation has fallen out of favor, due to its association with serious adverse effects and its replacement by procedures which require less time and cause less physical discomfort.[11]
Saline is in general safer and more effective than the other intrauterine solutions because it is likely to work in one dose. Prostaglandin is fast-acting, but often requires a second injection, and carries more side effects, such as nausea, vomiting, and diarrhea.[2]
Instillation of either saline or prostaglandin is associated with a higher risk of immediate complications than surgical D&C.[12] Dilation and evacuation is also reported to be safer than instillation methods.[13] One study found that the risk of complications associated with the injection of a combination of urea and prostaglandin into the amniotic fluid was 1.9 times that of D&E.[13]
The rate of mortality reported in the United States between 1972 and 1981 was 9.6 per 100,000 for instillation methods. This is in comparison to rates of 4.9 per 100,000 for D&E and 60 per 100,000 for abortion by hysterotomy and hysterectomy.[13]
There have been at least two documented cases of unsuccessful instillation abortions that resulted in live births.[14]
## References[edit]
1. ^ James, Denise. (2006). Therapeutic Abortion. Retrieved February 24, 2009.
2. ^ a b c d UIHC Medical Museum. (2006) The Facts of Life: Examining Reproductive Health. Retrieved August 14, 2006.
3. ^ Stubblefield, Phillip G., Carr-Ellis, Sacheen, & Borgatta, Lynn. (2004). Methods of Induced Abortion Archived 2008-02-27 at the Wayback Machine. Obstetrics & Gynecology, 104 (1), 174-185. Retrieved August 14, 2006.
4. ^ Potts DM (January 1970). "Termination of pregnancy". Br. Med. Bull. 26 (1): 65–71. doi:10.1093/oxfordjournals.bmb.a070745. PMID 4904688.
5. ^ Goldstein P, Stewart G (May 1972). "Trends in therapeutic abortion in San Francisco". Am J Public Health. 62 (5): 695–9. doi:10.2105/AJPH.62.5.695. PMC 1530244. PMID 5024298.
6. ^ Lawson, Herschel W., Atrash, Hani K., Saftlas, Audrey F., Koonin, Lisa M., Ramick, Merrell, & Smith, Jack C. (1989). Abortion Surveillance, United States, 1984-1985. Morbidity and Mortality Weekly Report. Retrieved August 14, 2006.
7. ^ Strauss, Lilo T., Herndon, Joy, Chang, Jeani, Parker, Wilda Y., Bowens, Sonya V., Berg, Cynthia J. Centers for Disease Control and Prevention. (2005-11-15). Abortion Surveillance - United States, 2002. Morbidity and Mortality Weekly Report. Retrieved 2006-02-20.
8. ^ Pazol, Karen, Zane, Suzanne B., Parker, Wilda Y., Hall, Laura R., Gamble, Sonya B., Hamdan, Saeed, Berg, Cynthia, Cook, Douglas A., Division of Reproductive Health, National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control. (2011-02-25). Abortion Surveillance - United States, 2007. Morbidity and Mortality Weekly Report. Retrieved 2011-08-24.
9. ^ Ferris LE, McMain-Klein M, Iron K (1998). "Factors influencing the delivery of abortion services in Ontario: a descriptive study". Fam Plann Perspect. 30 (3): 134–8. doi:10.2307/2991628. JSTOR 2991628. PMID 9635262.
10. ^ Henshaw, Stanley K., Singh, Susheela, Oye-Adeniran, Boniface A., Adewole, Isaac F., Iwere, Ngozi, & Cuca, Yvette P. (1998). "The Incidence of Induced Abortion in Nigeria". International Family Planning Perspectives. 24 (4): 156–64. doi:10.2307/2991973. JSTOR 2991973.CS1 maint: multiple names: authors list (link)
11. ^ Trupin, Suzanne R. (2006). Abortion. Retrieved August 14, 2006.
12. ^ Ferris LE, McMain-Klein M, Colodny N, Fellows GF, Lamont J (June 1996). "Factors associated with immediate abortion complications". CMAJ. 154 (11): 1677–85. PMC 1487918. PMID 8646655.
13. ^ a b c Grimes DA, Schulz KF (July 1985). "Morbidity and mortality from second-trimester abortions". J Reprod Med. 30 (7): 505–14. PMID 3897528.
14. ^ Elliott, Jane. "'I survived an abortion attempt'." (December 6, 2005.) BBC News. Retrieved April 26, 2007.
P. Clarke; J. Smith; T. Kelly; MJ Robinson (January 2005). "An infant who survived abortion and neonatal intensive care". Journal of Obstetrics and Gynaecology. 25 (1): 73–4. doi:10.1080/01443610400025945. hdl:10019.1/36962. PMID 16147706. S2CID 6094614.
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* Canada
* Costa Rica
* Cuba
* Dominican Republic
* El Salvador
* Guatemala
* Mexico
* Nicaragua
* Panama
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* United States
Oceania
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Law
* Case law
* Constitutional law
* History of abortion law
* Laws by country
* Buffer zones
* Conscientious objection
* Fetal protection
* Heartbeat bills
* Informed consent
* Late-term restrictions
* Parental involvement
* Spousal consent
Methods
* Vacuum aspiration
* Dilation and evacuation
* Dilation and curettage
* Intact D&X
* Hysterotomy
* Instillation
* Menstrual extraction
* Abortifacient drugs
* Methotrexate
* Mifepristone
* Misoprostol
* Oxytocin
* Self-induced abortion
* Unsafe abortion
Religion
* Buddhism
* Christianity
* Catholicism
* Hinduism
* Islam
* Judaism
* Scientology
* Category
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Instillation abortion
|
None
| 26,313 |
wikipedia
|
https://en.wikipedia.org/wiki/Instillation_abortion
| 2021-01-18T18:32:40 |
{"wikidata": ["Q4203970"]}
|
Eosinophilic granulomatosis with polyangiitis (Churg Strauss syndrome) is a condition characterized by asthma, high levels of eosinophils (a type of white blood cell that helps fight infection), and inflammation of small to medium sized blood vessels (vasculitis). The inflamed vessels can affect various organ systems including the lungs, gastrointestinal tract, skin, heart and nervous system. The exact cause of eosinophilic granulomatosis with polyangiitis is unknown, but it is thought to be an autoimmune disorder.
Treatment may involve the use of glucocorticoids (steroids) and/or other immunosuppressive therapies. As of December 2017, mepolizumab (Nucala) became the first therapy approved specifically to treat eosinophilic granulomatosis with polyangiitis. When added to traditional steroid or immunosuppressive therapy, mepolizumab has been found to increase remission rate and time in remission for 50% of people with eosinophilic granulomatosis with polyangiitis.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Eosinophilic granulomatosis with polyangiitis
|
c0008728
| 26,314 |
gard
|
https://rarediseases.info.nih.gov/diseases/6111/eosinophilic-granulomatosis-with-polyangiitis
| 2021-01-18T18:00:42 |
{"mesh": ["D015267"], "orphanet": ["183"], "synonyms": ["CSS", "Allergic granulomatous and angiitis", "Allergic angiitis and granulomatosis", "Allergic granulomatosis", "Churg-Strauss vasculitis", "Granulomatous allergic angiitis", "Churg-Strauss syndrome", "EGPA"]}
|
OHVIRA
(a) Coronal Single shot T2W image shows absence of the right kidney. The distended hemivagina (asterisk) is seen on the right side and the normal collapsed left hemivagina with minimal fluid is seen adjacent to it (black arrow). The distended hemivagina ends above the introitus and its contents are hypointense to fat. (b) Coronal Single shot T2W image shows right and left uterine horns (white arrows). The right uterine horn cavity is seen to communicate with the upper end of the fluid collection in right hemivagina (small black arrow)
Herlyn-Werner-Wunderlich syndrome,[1] also known as OHVIRA (Obstructed hemivagina and ipsilateral renal anomaly) is an extremely rare syndrome characterized by a congenital birth defect of the lower abdominal and pelvic organs. It is a type of abnormality of the Müllerian ducts.
In most cases, OHVIRA presents as a double uterus with unilateral obstructed (or blind) hemivagina and ipsilateral renal agenesis. It can also affect the urethra, urethral sphincter, ureters, bladder and spleen.
Although the true incidence is unknown, it has been reported to be between 0.1% and 3%.[2]
## Contents
* 1 Symptoms
* 2 Diagnosis
* 3 Treatment
* 4 References
## Symptoms[edit]
Although there are no specific symptoms for this condition, common complains include progressively increasing pelvic pain during menstruation and hematocolpos due to the buildup of blood in the body. Other symptoms may include swelling of the abdomen, nausea and vomiting during menstruation, and pelvic pain. Fertility may also be affected.
The condition often leads to an increased need for C-sections due to the smaller uteruses.
## Diagnosis[edit]
The condition is often diagnosed through an MRI or ultrasound. Consulting a specialist (in this case a gynecologist) is recommended.
## Treatment[edit]
Although HWW is not curable, symptoms can be controlled with medication and surgery. In most cases, the blind hemi-vagina is opened, and the fluid drained.[3] Antibiotics can be used for frequent urinary tract infections, and kidney transplant is sometimes indicated.
Pregnancies in women with Herlyn-Werner-Wünderlich syndrome are categorized as high-risk due to the size and shape of the uteri and cervices as well as the reduced kidney function. Expectant mothers are often managed with cervical sutures and C-sections to prevent fetal distress during labour.
## References[edit]
1. ^ Mandava, Anitha; Prabhakar, R. R.; Smitha, S. (2012-04-01). "OHVIRA syndrome (obstructed hemivagina and ipsilateral renal anomaly) with uterus didelphys, an unusual presentation". Journal of Pediatric and Adolescent Gynecology. 25 (2): e23–25. doi:10.1016/j.jpag.2011.11.004. ISSN 1873-4332. PMID 22421561.
2. ^ Aveiro, Ana Cristina; Miranda, Victor; Cabral, António Jorge; Nunes, Sidónia; Paulo, Filomeno; Freitas, Conceição (2011-07-15). "Herlyn–Werner–Wunderlich syndrome: a rare cause of pelvic pain in adolescent girls". BMJ Case Reports. 2011. doi:10.1136/bcr.04.2011.4147. ISSN 1757-790X. PMC 3139160. PMID 22689557.
3. ^ Tug, Niyazi; Sargin, Mehmet Akif; Çelik, Ayhan; Alp, Turgut; Yenidede, Ilter (2017-01-07). "Treatment of Virgin OHVIRA Syndrome with Haematometrocolpos by Complete Incision of Vaginal Septum without Hymenotomy". Journal of Clinical and Diagnostic Research. 9 (11): QD15–QD16. doi:10.7860/JCDR/2015/15532.6826. ISSN 2249-782X. PMC 4668488. PMID 26676254.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
OHVIRA
|
c1860549
| 26,315 |
wikipedia
|
https://en.wikipedia.org/wiki/OHVIRA
| 2021-01-18T18:38:19 |
{"gard": ["1910"], "mesh": ["C566010"], "umls": ["C1860549"], "orphanet": ["3411"], "wikidata": ["Q28439901"]}
|
## Clinical Features
Nowaczyk and Sutcliffe (1999) described 2 sibs, a 2.5-year-old girl and a 10-month-old boy, with an apparently novel combination of congenital anomalies: blepharophimosis, ptosis, midface hypoplasia, abnormal palate, low anterior and posterior hairlines, displaced hair whorl, apparently low-set and abnormally shaped ears, trigonocephaly, dental anomalies, laryngomalacia, sensorineural hearing loss, genital anomalies, hypotonia, and mental retardation. The parents were not related. The father was from El Salvador and the mother was of English and Irish descent. There were no recognized teratogenic exposures during the pregnancies. The girl had underdeveloped labia majora, and the labia minora were easily visible. The boy had grade 1 hypospadias with a cleft prepuce, shawl scrotum, and fine lanugo hair over the scrotum.
Verloes et al. (2006) reported a family (family 7) in which 2 male sibs had blepharophimosis, severe microcephaly, severe epilepsy, mental retardation, large, bulbous nose, adducted thumbs, cleft palate, abnormal genitalia, and normal thyroid function. They classified the disorder as 'blepharophimosis-mental retardation syndrome, Verloes type.' They suggested that the phenotype in these sibs resembled that in the sibs reported by Nowaczyk and Sutcliffe (1999).
Inheritance
Nowaczyk and Sutcliffe (1999) and Verloes et al. (2006) suggested that the phenotype in their patients had an autosomal recessive mode of inheritance.
INHERITANCE \- Autosomal recessive GROWTH Height \- Low birth height Weight \- Low birth weight HEAD & NECK Head \- Trigonocephaly \- Prominent occiput \- Microcephaly Face \- Midface hypoplasia \- Long, flat philtrum \- Short, smooth philtrum \- Round face \- Prominent cheeks \- Retrognathia, mild Ears \- Low-set ears \- Sensorineural hearing loss \- Recurrent otitis media \- Posteriorly rotated ears \- Thick helix \- Prominent antihelix \- Softened antitragus Eyes \- Blepharophimosis \- Ptosis \- Telecanthus \- Long eyelashes \- Vertically inserted eyelashes Nose \- Bulbous nose \- Stubby nose \- Flat tip of nose \- Thick Columella \- Wide alae nasi Mouth \- Small mouth \- High-arched palate \- Narrow palate Neck \- Redundant nuchal skin RESPIRATORY Larynx \- Laryngomalacia CHEST Breasts \- Supernumerary nipple ABDOMEN Gastrointestinal \- Feeding problems GENITOURINARY External Genitalia (Male) \- Hypospadias \- Shawl scrotum \- Curved penis \- Constriction ring in the proximal part of the penis \- Cleft prepuce \- Glanular hypospadias External Genitalia (Female) \- Hypoplastic labia majora SKELETAL Skull \- Ridged metopic suture Hands \- Fifth finger clinodactyly \- Proximally placed thumbs \- Adducted thumbs \- Deep palmar creases Feet \- Talipes equinovarus SKIN, NAILS, & HAIR Skin \- Facial capillary hemangioma Nails \- Dystrophic toenails Hair \- Laterally displaced hair whorl \- Low anterior hairline \- Low posterior hairline \- Long eyelashes \- Vertically inserted eyelashes NEUROLOGIC Central Nervous System \- Hypotonia \- Mental retardation \- Bilateral small-sized cysts of the choroid plexus \- Paraventricular cyst in the area of the caudate nucleus \- Enlargement of lateral ventricles, mild \- Epilepsy \- Leukomalacia along the walls of the occipital horns of lateral ventricles MISCELLANEOUS \- Based on reports of 2 families (last curated May 2013) ▲ 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION
|
c1858538
| 26,316 |
omim
|
https://www.omim.org/entry/604314
| 2019-09-22T16:12:13 |
{"mesh": ["C565797"], "omim": ["604314"], "orphanet": ["293725"], "synonyms": ["Alternative titles", "BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, VERLOES TYPE"]}
|
collagen loss
The D-period of collagen fibrils results in visible 67nm bands when observed by electron microscopy.
Biological systemsystem
HealthCollagen loss can lead to skin losing its elasticity, reduce epidermal thickness and become prone to damage, increase wrinkles and sagging.
ActionInvoluntary: The process initiated unconsciously by the organism.
Frequencylifetime
Collagen is a protein that is an important part of connective tissues in the body. It is a rigid, non-soluble and fibrous protein that adds up to one third of the proteins found in the human body. Collagen is mostly made up of molecules that are packed together to form long and thin fibrils that support each other and ensure the skin is strong and elastic.[1] There are various types of collagen which have individual roles and structures. Most collagen belongs to types 1, 2 and 3. Collagen consists mainly of amino acids and can be mostly found in tendons, muscles, bones, skin, ligaments and other fibrous tissues. It helps keep the skin strong and supple, and sustains the renewal of skin cells and replacement of damaged and dead body cells.[2] The collagen tissues support the formation of bones, tendons, and cartilage that form depending on the level of mineralization. However, an individual can lose collagen components in the body due to exposure to ultraviolet light, tobacco, excessive intake of sugar, and aging. This loss of collagen can cause the skin to lose elasticity, reduction of the thickness of the epidermis, increase in the formation of wrinkles and sagging, and also make the skin vulnerable and easily damaged.[3]
Aging skin is identified by wrinkles, loss of skin flexibility, laxity, and having a rough appearance in the skin texture.
## Contents
* 1 Molecular mechanisms in Skin Aging
* 2 Oxidative stress
* 3 DNA damage
* 4 Telomere shortening
* 5 Inflammaging
* 6 Collagen loss due to increase in age
* 7 Lifestyle habits that lead to collagen loss
* 7.1 Intake too much sugar
* 7.2 Tobacco Usage
* 8 Treatment for collagen loss
* 9 Approaches that can be used to counter collagen loss
* 10 References
## Molecular mechanisms in Skin Aging[edit]
There are many dissimilar models that have been used to explain skin aging on a molecular basis such as the theory of cellular senescence, the reduction in the cell's DNA repair capacity, and the loss of telomeres, oxidative stress, etc. Some scientists also proposed that a large portion of skin aging is caused by external factors while only 3% is caused by internal factors. In the following sections, we discuss prominent models and advancements in molecular mechanism studies related to skin aging.[3]
## Oxidative stress[edit]
Oxidative stress shows the lack of balance between the systemic appearance of the oxygen species that are reactive and the biological system's capability to detoxify the reactive elements or repairing the damage that results from the imbalance. It is known that reactive oxygen species (ROS) take part in a very crucial role in dermal changes taking place outside the cells in both aging caused by internal factors and those caused by external factors. ROS can be created from many dissimilar sources which include the mitochondrion, endoplasmic reticulum and peroxisomal. In normal conditions with the exception of ligands the various actions of receptor tyrosine kinases on the surface of the cell are repressed by the receptor protein tyrosine phosphatases.[4]
## DNA damage[edit]
Exposure to Ultra-violet rays may cause damage of the DNA, which may disrupt the function of genes that play a huge role in the skin stem cells homeostasis. By exposing the skin frequently to ultraviolet radiation the damage of DNA increases and mutations also take place and may result to aging prematurely or carcinogenesis.[2] In a scenario where the DNA take in photons emanating from UV-B the nucleotides arrangement structurally changes which leads to the DNA strands having defects. In the species that are lesser, they can be able to repair the damage on the DNA using the photolyase enzyme but higher species do not have this enzyme. Repair in the cells of humans can be attained by a nucleotide excision repair path, once the following proteins are deficient the skin is prone to premature aging.[5]
## Telomere shortening[edit]
Telomeres are nucleoid sequences that repeat themselves and cap and also saves the chromosomes from dilapidation and recombination abnormality. Their length decreases with every divisions of the cell and results in cellular senescence. They are critical body structures located at the end of the eukaryotic chromosomes which consists of many copies of G rich repeats. Without the presence of Telomeres the chromosomes will combine and cause instability in the genes. The enzyme that increases the telomere replications in order to prevent them from becoming short is known as telomerase.[6] The deficiency of this enzyme can cause a hastened telomere shortening which could cause a flawed regeneration of the tissue. This also suppresses the production of epidermal cells. Also the exposure to UV is known to cause mutation of the telomere and also cause the death of the cells.[7]
## Inflammaging[edit]
This is the long-lasting inflammation that occurs as a result of aging. It affects the start and the progression of diseases that occur as a result of aging e.g. type 2 diabetes. It occurs in the skin because when exposed to the UV radiation it leads to the damaging of the epidermal cells which in turn cause inflammation to occur.
## Collagen loss due to increase in age[edit]
When an individual ages the outermost layer of skin becomes thin despite the number of layers of the cell remaining unchanged, and the number of cells that contain a pigment reduces and the melanocytes that remain increase in size.[2] This is the reason why aging skin looks thin, pale and translucent. There may be large spots that are pigmented when some areas are exposed to sunlight. The various alterations in the connective tissue may decrease the strength of the skin and its elasticity. Also the blood vessels in the outer skin become more delicate and can result to bruises and also bleeding under the surface of the skin.[7] The subcutaneous glands also excrete low amounts of oil as you age. The men experience this shortage mostly after reaching the age of 80 years. The women may slowly begin excreting less oil after menopause thus is very hard to keep the skin moist. The layer of subcutaneous fat also decreases thus reducing the insulation and padding capability of the skin. This can make the individual be at risk of having an injury and also finds it very hard to maintain body temperature. The sweat glands also cut down on the amount of sweat they produce thus making the individual's body harder to cool.[8]
## Lifestyle habits that lead to collagen loss[edit]
### Intake too much sugar[edit]
The intake of too much sugar can lead to negative impacts to the body which include the damage of collagen. The excess consumption of sugar results to glycation that produces AGEs. This occurs naturally and when too much sugar is consumed the AGE molecules stick to the collagen molecules turning them stiff, thus damaging them.[9] The process of glycation not only does it damage the collagen existing in the body but also makes some alterations to its stability. When an individual intakes large amounts of sugar the process of glycation converts the collagen into an unstable type 1 which is more vulnerable and can be easily broken down thus can lead to premature aging.[10]
### Tobacco Usage[edit]
The use of tobacco can also cause the damage of the skin's collagen. It causes the skin around the lips to loose collagen when it comes into contact with the smoke. It may also cause the vessels of blood to constrict and reduce the flow of blood. Due to this occurrence, collagen may become rigid and die off. When collagen is lost in large amounts it may cause wrinkles to emerge, dryness and may result to discolored skin. It has also been noted that tobacco also causes a slow or none collagen healing.[11]
## Treatment for collagen loss[edit]
There are various ways in which an individual is able to treat the loss of collagen. Dietary changes may increase the turnover of the cells and increase the creation of collagen. One can also adopt exercises that stimulate the production of collagen and also increase their intake of vitamin D. Also applying the necessary amounts of sunblock can prevent harmful amounts of UV-rays from the sun causing damage to your skin. You can also protect yourself from some of the causatives that kill collagen. Avoid spending too much time in the sun, apply sunblock, avoid smoking tobacco, drink plenty of water to prevent dehydration and participate in stress-relieving activities. Stress is known to cause skin aging.[5]
In order to preserve healthy, young skin there are the various things that we have to put into consideration that help to ensure this goal is achieved. Things such as taking in vitamins C and A provide a very good boost to the production of collagen in the body. In order to maintain healthy skin, you need to nurture and protect the collagen that is existing in the body by consuming healthy foods which have the necessary Vitamins, minerals and amino acids to promote collage productions and reduce cell damage in the body.[4]
## Approaches that can be used to counter collagen loss[edit]
There are various ways which can be used to counter the loss of collagen from the body and may include the use of treatment using vitamin A etc. The skin can be subjected to either extrinsic or intrinsic factors caused by aging.[4] Aging skin is identified by having wrinkles, losing skin flexibility, laxity and having a rough appearance in the skin texture. Cutaneous aging is mostly triggered by either the intrinsic and extrinsic factors. Intrinsic aging is an unavoidable process that occurs physiologically that causes the thinning of skin, wrinkling and also slow dermal atrophy. Correspondingly, extrinsic aging is triggered and influenced by external environmental factors which may include pollution in the air, smoking, having poor nutrition and having excess exposure to the sun. In the following research we will review the various changes that take place in the process of skin aging, the advancement of research in the molecular mechanisms that lead to the changes and also the various methods of treatment and skin maintenance.[12]
Skin aging is not only affected by the intrinsic factors but also can be triggered and influenced by external factors. These changes occur simultaneously with the various phenotypic alterations in the cutaneous cells and also may change the structures and functions of extracellular constituents which may include collagens, proteoglycans and elastin that are necessary for providing the strength of stretching, elasticity and the hydration of the skin.[1]
Intrinsic aging of the skin is a process of the skin changing over a period of time. Aging of the inner parts of the body that are protected mainly occur due to the intrinsic factors that can be genetic or metabolic, while the parts that are exposed are affected by the extrinsic influences, this consists mostly of ultraviolet rays from the sun.[5] For the skin that has undergone intrinsic changes most of the variations are identifiable on the basal layer. Studies have shown that when the person becomes older the reproduction of the cells in the basal layer decreases. Thus the epidermis becomes thinner and the surface area of contact in between the dermis and epidermis reduces thus leads to a decrease in the nutrition exchange to the epidermis. This causes the basal layer to be weak thus the cells cannot multiply or grow.[4] This process which involves a decrease in the productivity of cells is known as cellular senescence. Research shows that in skin that has aged intrinsically does not only degenerate collagens, elastin etc., but also oligosaccharide which affects the skin's ability to retain moisture.
Besides the internal factors that may cause skin aging, external factors such as being exposed to sunlight also causes the skin to age. 80% of the cases of skin aging have been caused by been exposed to the ultraviolet radiation which is the primary cause of extrinsic aging of the skin. In contrast to the thinning of the epidermis in internally aged skin, the extrinsically aged skin the ultraviolet rays cause the epidermis to thicken, the outmost level of the epidermis which is the stratum corneum is affected and becomes thick due to the failure of the corneocyte desmosomes.[7] In the basal cells the protein on the cell surface interacts with the proteins are largely decreased showing that the rate of production of the cells is also reduced. When exposed to the ultraviolet radiation, the type VII collagen in keratinocytes decreases which in turn leads to the emergence of wrinkles that come about due to weakening connection between the dermis and epidermis.[1] Research shows that type 1 collagen reduces in amount when exposed to UV light because of the dilapidation of the collagen.
There are also MMPs and proteases that take place in the dilapidation activity. In a skin that has gone through photo aging, there is a noticeable feature that occurs deeply in the dermis which is the buildup of uncharacteristic elastic tissue, this is called solar elastolysis.[5] The UV radiation causes the level of elastin which forms the fiber cleavage which in turn causes the deposit of elastic fibers. Research has shown that aging caused by exposure to UV causes the N-terminal and center parts of the tropoelastin molecules to be prone to enzymatic cleavage thus resulting to an acceleration of the dilapidation of elastin in relation to the age of the individual. Similarly, the microvasculature also reduces as the individual ages. This occurs as a result of the endothelial dysfunction which also comprises a reduction in angiogenic capacity and also having an impaired vasodilatory tasks.[3]
## References[edit]
1. ^ a b c Tsutsumi A, Sugiyama T, Matsumura R, Sueishi M, Takabayashi K, Koike T, Tomioka H, Yoshida S (March 1991). "Protein losing enteropathy associated with collagen diseases". Annals of the Rheumatic Diseases. 50 (3): 178–81. doi:10.1136/ard.50.3.178. PMC 1004370. PMID 2015012.
2. ^ a b c Pastor-Pareja JC, Xu T (August 2011). "Shaping cells and organs in Drosophila by opposing roles of fat body-secreted Collagen IV and perlecan". Developmental Cell. 21 (2): 245–56. doi:10.1016/j.devcel.2011.06.026. PMC 4153364. PMID 21839919.
3. ^ a b c Oliver RF, Barker H, Cooke A, Grant RA (January 1982). "Dermal collagen implants". Biomaterials. 3 (1): 38–40. doi:10.1016/0142-9612(82)90059-X. PMID 7066465.
4. ^ a b c d Li Y, Lei D, Swindell WR, Xia W, Weng S, Fu J, et al. (September 2015). "Age-Associated Increase in Skin Fibroblast-Derived Prostaglandin E2 Contributes to Reduced Collagen Levels in Elderly Human Skin". The Journal of Investigative Dermatology. 135 (9): 2181–2188. doi:10.1038/jid.2015.157. PMC 4537382. PMID 25905589.
5. ^ a b c d Hui W, Young DA, Rowan AD, Xu X, Cawston TE, Proctor CJ (February 2016). "Oxidative changes and signalling pathways are pivotal in initiating age-related changes in articular cartilage". Annals of the Rheumatic Diseases. 75 (2): 449–58. doi:10.1136/annrheumdis-2014-206295. PMC 4752670. PMID 25475114.
6. ^ Kim HK, Kim MG, Leem KH (December 2013). "Osteogenic activity of collagen peptide via ERK/MAPK pathway mediated boosting of collagen synthesis and its therapeutic efficacy in osteoporotic bone by back-scattered electron imaging and microarchitecture analysis". Molecules. 18 (12): 15474–89. doi:10.3390/molecules181215474. PMC 6269989. PMID 24352008.
7. ^ a b c Gautieri A, Passini FS, Silván U, Guizar-Sicairos M, Carimati G, Volpi P, et al. (May 2017). "Advanced glycation end-products: Mechanics of aged collagen from molecule to tissue". Matrix Biology. 59: 95–108. doi:10.1016/j.matbio.2016.09.001. hdl:11311/1009184. PMID 27616134.
8. ^ Cassidy JJ, Hiltner A, Baer E (May 1991). "Hierarchical structure and mechanical properties of collagen in the intervertebral disc". Annals of Biomedical Engineering. 19 (3): 331. doi:10.1007/BF02584309. S2CID 31720520.
9. ^ Trindade R, Albrektsson T, Tengvall P, Wennerberg A (February 2016). "Foreign Body Reaction to Biomaterials: On Mechanisms for Buildup and Breakdown of Osseointegration". Clinical Implant Dentistry and Related Research. 18 (1): 192–203. doi:10.1111/cid.12274. PMID 25257971.
10. ^ Vitellaro-Zuccarello L, Cappelletti S, Dal Pozzo Rossi V, Sari-Gorla M (February 1994). "Stereological analysis of collagen and elastic fibers in the normal human dermis: variability with age, sex, and body region". The Anatomical Record. 238 (2): 153–62. doi:10.1002/ar.1092380202. PMID 8154602. S2CID 25679704.
11. ^ Tezze C, Romanello V, Desbats MA, Fadini GP, Albiero M, Favaro G, et al. (June 2017). "Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence". Cell Metabolism. 25 (6): 1374–1389.e6. doi:10.1016/j.cmet.2017.04.021. PMC 5462533. PMID 28552492.
12. ^ Ferraro V, Gaillard-Martinie B, Sayd T, Chambon C, Anton M, Santé-Lhoutellier V (April 2017). "Collagen type I from bovine bone. Effect of animal age, bone anatomy and drying methodology on extraction yield, self-assembly, thermal behaviour and electrokinetic potential". International Journal of Biological Macromolecules. 97: 55–66. doi:10.1016/j.ijbiomac.2016.12.068. PMID 28038914.
Wikimedia Commons has media related to Collagen loss.
* v
* t
* e
Connective tissue
Physiology
* Soft tissue
* Fibrosis
* Scarring
Composition
Cells
Resident
* Fibroblast
* Fibrocyte
* Reticular cell
* Tendon cell
* Adipocyte
* Melanocyte
Wandering cells
* Mast cell
* Macrophage
Extracellular
matrix
Ground substance
* Tissue fluid
Fibers
* Collagen fibers
* Reticular fibers
* COL3A1
* Elastic fibers
* Elastin
* Fibrillin
* FBN1
* FBN2
* FBN3
* EMILIN1
* Elaunin
Types
Proper
Loose
* Reticular
* Adipose
* Brown
* White
Dense
* Dense irregular connective tissue
* Submucosa
* Dermis
* Dense regular connective tissue
* Ligament
* Tendon
* Aponeurosis
Embryonic
* Mucoid
* Mesenchymal
Specialized
* Cartilage
* Bone
* v
* t
* e
Protein: scleroproteins
Extracellular
matrix
Collagen
Fibril forming
* type I
* COL1A1
* COL1A2
* type II (COL2A1)
* type III
* type V
* COL5A1
* COL5A2
* COL5A3
* COL24A1
* COL26A1
Other
* FACIT: type IX
* COL9A1
* COL9A2
* COL9A3
* type XII (COL12A1)
* COL14A1
* COL16A1
* COL19A1
* COL20A1
* COL21A1
* COL22A1
* basement membrane: type IV
* COL4A1
* COL4A2
* COL4A3
* COL4A4
* COL4A5
* COL4A6
* multiplexin: COL15A1
* type XVIII
* COL18A1
* Endostatin
* transmembrane: COL13A1
* COL17A1
* COL23A1
* COL25A1
* other: type VI
* COL6A1
* COL6A2
* COL6A3
* COL6A5
* type VII (COL7A1)
* type VIII
* COL8A1
* COL8A2
* type X (COL10A1)
* type XI
* COL11A1
* COL11A2
* COL27A1
* COL28A1
Enzymes
* Prolyl hydroxylase/Lysyl hydroxylase
* Cartilage associated protein/Leprecan
* ADAMTS2
* Procollagen peptidase
* Lysyl oxidase
Laminin
* alpha
* LAMA1
* LAMA2
* LAMA3
* LAMA4
* LAMA5
* beta
* LAMB1
* LAMB2
* LAMB3
* LAMB4
* gamma
* LAMC1
* LAMC2
* LAMC3
Other
* ALCAM
* Elastin
* Tropoelastin
* Vitronectin
* FRAS1
* FREM2
* Decorin
* FAM20C
* ECM1
* Matrix gla protein
* Tectorin
* TECTA
* TECTB
Other
* Keratin/Cytokeratin
* Gelatin
* Reticulin
* Cartilage oligomeric matrix protein
See also
diseases
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Collagen loss
|
None
| 26,317 |
wikipedia
|
https://en.wikipedia.org/wiki/Collagen_loss
| 2021-01-18T19:00:44 |
{"wikidata": ["Q65069903"]}
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The tendency for a particular orientation in how an individual thinks about an issue, belief or strategy to endure or resist change
Cognitive inertia is the tendency for a particular orientation in how an individual thinks about an issue, belief or strategy to resist change. In clinical and neuroscientific literature it is often defined as a lack of motivation to generate distinct cognitive processes needed to attend to a problem or issue. The physics term inertia is to emphasize the rigidity and resistance to change in the method of cognitive processing that has been in use for a significant amount of time. Commonly confused with belief perseverance, cognitive inertia is the perseverance of how one interprets information, not the perseverance of the belief itself.
Cognitive inertia has been causally implicated in disregard of impending threat to one's health or environment, enduring political values and deficits in task switching. Interest in the phenomenon was largely taken up by economic and industrial psychologists to explain resistance to change in brand loyalty, group brainstorming and business strategies. In the clinical setting cognitive inertia has been used as a diagnostic tool for neurodegenerative diseases, depression and anxiety. Critics have stated that the term oversimplifies resistant thought processes and suggest a more integrative approach that involves motivation, emotion and developmental factors.
## Contents
* 1 History and methods
* 1.1 Early history
* 1.2 Cognitive psychology
* 1.2.1 Probabilistic model
* 2 Examples
* 2.1 Public health
* 2.1.1 Historical
* 2.1.2 Contemporary
* 2.2 Geography
* 2.3 Group membership
* 2.3.1 Politics
* 2.3.2 Interpersonal roles
* 3 In business
* 3.1 Brand loyalty
* 3.2 Brainstorming
* 3.3 Competitive strategies
* 3.4 Management
* 4 Applications
* 4.1 Therapy
* 4.2 Clinical diagnostics
* 5 Neural anatomy and correlates
* 5.1 Cortical
* 5.2 Functional connectivity
* 6 Alternative theories
* 6.1 Alternative paradigms
* 6.1.1 Motivated reasoning
* 6.1.2 Socio-cognitive inflexibility
* 7 See also
* 8 References
## History and methods[edit]
### Early history[edit]
The idea of cognitive inertia has its roots in philosophical epistemology. Early allusions to reduction of cognitive inertia can be found in the Socratic dialogues written by Plato. Socrates builds his argument by using the detractor's beliefs as the premise to his argument's conclusions. In doing so, Socrates reveals the detractor's fallacy of thought inducing the detractor to change their mind or face the reality that their thought processes are in contradiction.[1][2] Ways to combat persistence of cognitive style is also seen in Aristotle's syllogistic method which employs logical consistency of the premises to convince an individual of the conclusion's validity.[3]
In the beginning of the twentieth century, two of the earliest experimental psychologists, Müller and Pilzecker, defined perseveration of thought to be "the tendency of ideas, after once having entered consciousness, to rise freely again in consciousness". Müller described perseveration by illustrating his own inability to inhibit old cognitive strategies with a syllable switching task, while his wife easily switched from one strategy to the next. One of the earliest personality researchers, W. Lankes, more broadly defined perseveration as "being confined to the cognitive side" and possibly "counteracted by strong will".[4] These early ideas of perseveration were the precursor to how the term cognitive inertia would be used to study certain symptoms in patients with neurodegenerative disorders, rumination and depression.[5][6]
### Cognitive psychology[edit]
Originally proposed by William J. McGuire in 1960, the theory of cognitive inertia was built upon emergent theories in social psychology and cognitive psychology that centered around cognitive consistency, including Fritz Heider's balance theory and Leon Festinger's cognitive dissonance.[7][8][9] McGuire used the term cognitive inertia to account for an initial resistance to change how an idea was processed after new information, that conflicted with the idea, had been acquired.[7]
In McGuire's initial study involving cognitive inertia, participants gave their opinions of how probable they believed a variety of topics to be. A week later they came back to read messages that related to the topics they had given their opinions on. The messages were presented as factual and were targeted to change the participants' belief in how probable the topics were. Immediately after reading the messages, and one week later, the participants were again assessed on how probable they believed the topics to be. Discomforted by the inconsistency of the related information from the messages and their initial ratings on the topics, McGuire believed the participants would be motivated to shift their probability ratings to be more consistent with the factual messages.[8][10] However, the participants' opinions did not immediately shift toward the information presented in the messages. Instead, a shift towards consistency of thought on the information from the messages and topics grew stronger as time passed, often referred to as "seepage" of information.[11] The lack of change was reasoned to be due to a persistence in the individual's existing thought processes which inhibited their ability to properly re-evaluate their initial opinion, or as McGuire called it, cognitive inertia.[7]
#### Probabilistic model[edit]
Although cognitive inertia was related to many of the consistency theories at the time of its conception, McGuire used a unique method of probability theory and logic to support his hypotheses on change and persistence in cognition.[12][13] Utilizing a syllogistic framework, McGuire proposed that if three issues (a, b and c) were so interrelated that an individual's opinion were in complete support of issues a and b then it would follow their opinion on issue c would be supported as a logical conclusion.[7][3] Furthermore, McGuire proposed if an individual's belief in the probability (p) of the supporting issues (a or b) was changed, then not only would the issue (c) explicitly stated change, but a related implicit issue (d) could be changed as well. More formally:
> the required change ( Δ {\displaystyle \Delta } ) on c necessary for maintaining logical consistency among the opinions is
>
> Δ {\displaystyle \Delta } p(c) = Δ {\displaystyle \Delta } p(a & b)
>
> which, assuming that a and b are independent events i.e., that p(a & b) = p(a) p(b) becomes
>
> Δ {\displaystyle \Delta } p(c) = Δ {\displaystyle \Delta } p(a) p(b) + Δ {\displaystyle \Delta } p(a) p(b) + Δ {\displaystyle \Delta } p(a) p(b)
>
> where p(a) and p(b) refer to the initial opinions, before the communication induced changes.
This formula was used by McGuire to show that the effect of a persuasive message on a related, but unmentioned, topic (d) took time to sink in. The assumption was that topic d was predicated on issues a and b, similar to issue c, so if the individual agreed with issue c then so too should they agree with issue d. However, in McGuire's initial study immediate measurement on issue d, after agreement on issues a, b and c, had only shifted half the amount that would be expected to be logically consistent. Follow-up a week later showed that shift in opinion on issue d had shifted enough to be logically consistent with issues a, b, and c, which not only supported the theory of cognitive consistency, but also the initial hurdle of cognitive inertia.[7]
The model was based on probability to account for the idea that individuals do not necessarily assume every issue is 100% likely to happen, but instead there is a likelihood of an issue occurring and the individual's opinion on that likelihood will rest on the likelihood of other interrelated issues.[12]
## Examples[edit]
### Public health[edit]
#### Historical[edit]
Group (cognitive) inertia, how a subset of individuals view and process an issue, can have detrimental effects on how emergent and existing issues are handled.[14] In an effort to describe the almost lackadaisical attitude from a large majority of U.S. citizens toward the insurgence of the Spanish flu in 1918, historian Tom Dicke has proposed that cognitive inertia explains why many individuals did not take the flu seriously. At the time most U.S. citizens were familiar with the seasonal flu and viewed it as an irritation that was often easy to treat, infected few and passed quickly with few complications and hardly ever a death. However, this way of thinking about the flu was detrimental to the need for preparation, prevention and treatment of the Spanish flu, due to its quick spread and virulent form, until it was much too late and it became one of the most deadly pandemics in history.[15]
#### Contemporary[edit]
In the more modern period, there is an emerging position that anthropogenic climate change denial is a kind of cognitive inertia. Despite the evidence provided by scientific discovery, there are still those – including nations – who deny its incidence in favor of existing patterns of development.[16]
### Geography[edit]
To better understand how individuals store and integrate new knowledge with existing knowledge, Friedman and Brown tested participants on where they believed countries and cities to be located latitudinally and then, after giving them the correct information, tested them again on different cities and countries. The majority of participants were able to use the correct information to update their cognitive understanding of geographical locations and place the new locations closer to their correct latitudinal location, which supported the idea that new knowledge not only affects the direct information but also related information. However, there was a small effect of cognitive inertia as some areas were unaffected by the correct information, which the researchers suggested was due to a lack of knowledge linkage in the correct information and new locations presented.[17]
### Group membership[edit]
#### Politics[edit]
The persistence of political group membership and ideology is suggested to be due to the inertia of how the individual has perceived the grouping of ideas over time. The individual may accept that something counter to their perspective is true, but it may not be enough to tip the balance of how they process the entirety of the subject.[13]
Governmental organizations can often be resistant or glacially slow to change along with social and technological transformation. Even when evidence of malfunction is clear this form of institutional inertia can persist.[18] Political scientist Francis Fukuyama has asserted that humans imbue intrinsic value on the rules they enact and follow, especially in the larger societal institutions that create order and stability. Despite rapid social change and increasing institutional problems, the value placed on an institution and its rules can mask how well an institution is functioning as well as how that institution could be improved.[19] The inability to change an institutional mindset is supported by the theory of punctuated equilibrium, long periods of deleterious governmental policies punctuated by moments of civil unrest. After decades of economic decline the United Kingdom's referendum to leave to EU was seen as an example of the dramatic movement after a long period of governmental inertia.[18]
#### Interpersonal roles[edit]
The unwavering views of the roles people play in our lives has been suggested as a form of cognitive inertia. When asked how they would feel about a classmate marrying their mother or father undergraduate many students said they would be unable to view their classmate in the role of step-father/mother. Some students went so far as to say that the hypothetical relationship felt like incest.[20]
Role inertia has also been implicated in marriage and likelihood of divorce. Research on couples who co-habitat together before marriage shows they are more likely to get divorced than those who do not. The effect is most seen in a subset of couples who co-habit without first being transparent about future expectations of marriage. Over time cognitive role inertia takes over and the couple marries without fully processing the decision, often with one or both of the partners not fully committed to the idea. The lack of deliberative processing of existing problems and levels of commitment in the relationship can lead to increased stress, arguments, dissatisfaction and divorce.[21]
## In business[edit]
Cognitive inertia is regularly referenced in business and management to refer to consumers' continued use of products, a lack of novel ideas in group brainstorming sessions and lack of change in competitive strategies.[22][23][24]
### Brand loyalty[edit]
Gaining and retaining new customers is an essential part of whether a business succeeds early on. To assess a service, product or likelihood of customer retention many companies will invite their customers to complete satisfaction surveys immediately after the purchase of a product or service. However, unless the satisfaction survey is completed immediately after the point of purchase the customer response is often based on an existing mindset about the company, not the actual quality of experience. Unless the product or service is extremely negative or positive cognitive inertia related to how the customer feels about the company will not be inhibited, even when the product or service is substandard. These satisfaction surveys can lack the information businesses need to improve a service or product that will allow them to survive against the competition.[25]
### Brainstorming[edit]
Cognitive inertia plays a role in why a lack of ideas are generated during group brainstorming sessions as individuals in a group will often follow an idea trajectory, in which they continue to narrow in on ideas based on the very first idea proposed in the brainstorming session. This idea trajectory actually inhibits the creation of new ideas that was central to the initial formation of the group.[22][26]
In an effort to combat cognitive inertia in group brainstorming, researchers had business students either use a single dialogue or multiple dialogue approach to brainstorming. In the single dialogue version the business students all listed their ideas and created a dialogue around the list, whereas in the multi-dialogue version ideas were placed in subgroups that individuals could choose to enter and talk about and then freely move to another subgroup. The multi-dialogue approach was able to combat cognitive inertia by allowing different ideas to simultaneously be generated in sub-groups and each time an individual switched to a different sub-group they had to change how they were processing the ideas which lead to more novel and high-quality ideas.[26]
### Competitive strategies[edit]
Adapting cognitive strategies to changing business climates is often integral to whether or not a business succeeds or fails during times of economic stress.[27] In the late 1980s in the UK, real estate agents' cognitive competitive strategies did not shift with signs of an increasingly depressed real estate market, despite their ability to acknowledge the signs of decline.[24] This cognitive inertia at the individual and corporate level has been proposed as reasons to why companies do not adopt new strategies to combat ever increasing decline in the business or take advantage of potential. General Mills' continued operation of mills long after they were no longer necessary is an example of when companies refuse to change the mindset of how the company should operate.[24]
More famously, cognitive inertia in upper management at Polaroid was proposed to be one of the main contributing factors for why competitive strategy for the company was not updated. Management strongly held that consumers wanted high quality physical copies of their photos and that was where the company would make their money. Despite Polaroid's large research and development into the digital market, their inability to refocus their strategy to hardware sales instead of film eventually led to their collapse.[28]
Scenario planning has been one suggestion to combat cognitive inertia when it comes to making strategic decisions to improve business. Individuals come up with different strategies and outline how the scenario could play out taking into account different ways it could go. Scenario planning allows for diverse ideas to be heard as well as the breadth of each scenario, which can help combat relying on existing methods and thinking alternatives are unrealistic.[29]
### Management[edit]
In a recent review of company archetypes that lead to corporate failure, Habersang, Küberling, Reihlen, and Seckler defined "the laggard" as one who rests on the laurels of the company, believing past success and recognition will shield them from failure. Instead of adapting to changes in the market, "the laggard" assumes that the same strategies that won the company success in the past will do the same in the future. This lag in changing how they think about the company can lead to rigidity in company identity, like Polaroid, conflict in adapting when the sales plummet and resource rigidity. In the case of Kodak, instead of reallocating money to a new product or service strategy, they cut production costs and imitation of competitors both leading to poorer quality product and eventually bankruptcy.[27]
A review of 27 firms integrating the use of big data analytics found cognitive inertia to hamper the widespread implementation, with managers from sectors that did not focus on digital technology seeing the change as unnecessary and cost prohibitive.[30]
Managers with high cognitive flexibility that can change the type of cognitive processing based on the situation at hand are often the most successful in solving novel problems and keeping up with changing circumstances.[31] Interestingly, shift in mental models (disrupting cognitive inertia) during a company crisis are frequently at the lower group level with leaders coming to a consensus with the rest of the workforce in how to process and deal with the crisis, instead of vice versa. It is proposed that leaders can be blinded by their authority and too easily disregard those at the front-line of the problem causing them to reject remunerative ideas.[32]
## Applications[edit]
### Therapy[edit]
An inability to change how one thinks about a situation has been implicated as one of the causes of depression. Rumination, or the perseverance of negative thoughts, is often correlated with severity of depression and anxiety. Individuals with high levels of rumination test low on scales of cognitive flexibility and have trouble shifting how they think about a problem or issue even when presented with facts that counter their thinking process.[6]
In a review paper that outlined strategies that are effective for combating depression, the Socratic method was suggested to overcome cognitive inertia. By presenting the patient's incoherent beliefs close together and evaluating with the patient their thought processes behind those beliefs, the therapist is able to help them understand things from a different perspective.[1]
### Clinical diagnostics[edit]
In nosological literature relating to the symptom or disorder of apathy, clinicians have used cognitive inertia as one of the three main criteria for diagnosis. The description of cognitive inertia differs from its use in cognitive and industrial psychology in that lack of motivation plays a key role. As a clinical diagnostic criterion, Thant and Yager described it as "impaired abilities to elaborate and sustain goals and plans of actions, to shift mental sets, and to use working memory".[33] This definition of apathy is frequently applied to onset of apathy due to neurodegenerative disorders such as Alzheimer's and Parkinson's disease but has also been applied to individuals who have gone through extreme trauma or abuse.[34][35][36]
## Neural anatomy and correlates[edit]
### Cortical[edit]
Cognitive inertia has been linked to decreased use of executive function, primarily in the prefrontal cortex, which aids in flexibility of cognitive processes when switching tasks. Delayed response on the implicit associations task (IAT) and Stroop task have been related to an inability to combat cognitive inertia, as participants struggle to switch from one cognitive rule to the next to get the questions right.[37]
Before taking part in an electronic brainstorming session participants were primed with pictures that motivated achievement to combat cognitive inertia. In the achievement primed condition subjects were able to produce more novel high quality ideas and had more use of right frontal cortical areas which were related to decision making and creativity.[38]
Cognitive inertia is commonly used as one of the key dimensions of clinical apathy, described as a lack of motivation to elaborate plans for goal-directed behavior or automated processing.[34] Parkinson's patients whose apathy was measured using the cognitive inertia dimension showed less executive function control than Parkinson's patients without apathy, possibly suggesting more damage to the frontal cortex.[5] Additionally, more damage to the basal ganglia in Parkinson's, Huntington's and other neurodegenerative disorders have been found with patients exhibiting cognitive inertia in relation to apathy when compared to those who do not exhibit apathy. Patients with lesions to the dorsolateral prefrontal cortex have shown reduced motivation to change cognitive strategies and how they view situations, similar to individuals who experience apathy and cognitive inertia after severe or long-term trauma.[35]
### Functional connectivity[edit]
Nursing home patients who suffer from dementia have been found to have larger reductions in functional brain connectivity primarily in the corpus callosum, important for communication between hemispheres.[34] Cognitive inertia in neurodegenerative patients has also been associated with a decrease in the connection of the dorsolateral prefrontal cortex and posterior parietal area with subcortical areas including the anterior cingulate cortex and basal ganglia.[36] Both findings are suggested to decrease motivation to change one's thought processes or create new goal-directed behavior.[34][36]
## Alternative theories[edit]
Some researchers have refuted the cognitive perspective of cognitive inertia and suggest a more holistic approach that takes into account the motivations, emotions and attitudes that fortify the existing frame of reference.[39]
### Alternative paradigms[edit]
#### Motivated reasoning[edit]
The theory of motivated reasoning is proposed to be driven by the individual's motivation to think a certain way, often to avoid thinking negatively about oneself. The individual's own cognitive and emotional biases are commonly used to justify a thought, belief or behavior. Unlike cognitive inertia where an individual's orientation in processing information remains unchanged either due to new information not being fully absorbed or being blocked by a cognitive bias, motivated reasoning may actually change the orientation or keep it the same depending on whether that orientation benefits the individual.[39]
In an extensive online study participant opinions were acquired after two readings about various political issues to assess the role of cognitive inertia. The participants gave their opinion after the first reading and were then assigned a second reading with new information. After being assigned to read more information on the issue that either confirmed or disconfirmed their initial opinion the majority of participants' opinions did not change. When asked about the information in the second reading those who did not change their opinion evaluated the information that supported their initial opinion as stronger than information that disconfirmed their initial opinion. The persistence in how the participants viewed the incoming information was based on their motivation to be correct in their initial opinion, not the persistence of an existing cognitive perspective.[40]
#### Socio-cognitive inflexibility[edit]
From a social psychology perspective individuals are continually forming and shaping beliefs and attitudes about the world around them based on interaction with others. What information the individual attends to is based on prior experience and knowledge of the world. Cognitive inertia is seen not just as a malfunction in updating how information is being processed but that the assumptions about the world and how it works can impede cognitive flexibility.[41] The persistence of the idea of the nuclear family has been proposed as a socio-cognitive inertia. Despite the changing trends in family structure including multi-generational, single-parent, blended and same-sex parent families, the normative idea of a family has centered around the mid-twentieth century idea of a nuclear family (i.e. mother, father, and children). Various social influences are proposed to maintain the inertia of this viewpoint, including media portrayals, persistence of working-class gender roles, unchanged domestic roles despite working mothers and familial pressure to conform.[42]
The phenomenon of cognitive inertia in brainstorming groups has been argued to be due to other psychological effects such as fear of disagreeing with an authority figure in the group, fear of new ideas being rejected and the majority of speech being attributed to the minority of group members.[43] Internet-based brainstorming groups have been found to produce more ideas of high-quality because it overcomes the problem of speaking up and fear of idea rejection.[26]
## See also[edit]
* Antiprocess
* Belief perseverance
* Cognitive bias
* Cognitive dissonance
* Cognitive distortion
* Conservatism (belief revision)
* Industrial Psychology
* Inoculation theory
* Knowledge inertia
* Motivated reasoning
* Plan continuation bias
* Psychological inertia
* Rationalization (psychology)
* Rigidity (psychology)
* Status quo bias
* True-believer syndrome
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36. ^ a b c Pagonabarraga, Javier; Kulisevsky, Jaime; Strafella, Antonio P; Krack, Paul (2015). "Apathy in Parkinson's disease: clinical features, neural substrates, diagnosis, and treatment". The Lancet Neurology. 14 (5): 518–531. doi:10.1016/s1474-4422(15)00019-8. hdl:10609/92806. ISSN 1474-4422. PMID 25895932.
37. ^ Messner, Claude; Vosgerau, Joachim (2010). "Cognitive Inertia and the Implicit Association Test". Journal of Marketing Research. 47 (2): 374–386. doi:10.1509/jmkr.47.2.374. ISSN 0022-2437.
38. ^ Minas, Randall K.; Dennis, Alan R.; Potter, Robert F.; Kamhawi, Rasha (2017-11-06). "Triggering Insight: Using Neuroscience to Understand How Priming Changes Individual Cognition during Electronic Brainstorming". Decision Sciences. 49 (5): 788–826. doi:10.1111/deci.12295. ISSN 0011-7315.
39. ^ a b Kunda, Ziva (1990). "The case for motivated reasoning". Psychological Bulletin. 108 (3): 480–498. doi:10.1037/0033-2909.108.3.480. ISSN 1939-1455. PMID 2270237. S2CID 9703661.
40. ^ Stanley, Matthew L.; Henne, Paul; Yang, Brenda W.; De Brigard, Felipe (2019-01-16). "Resistance to Position Change, Motivated Reasoning, and Polarization". Political Behavior. doi:10.1007/s11109-019-09526-z. ISSN 1573-6687.
41. ^ Stein, Johan (1997-09-01). "How Institutions Learn: A Socio-Cognitive Perspective". Journal of Economic Issues. 31 (3): 729–740. doi:10.1080/00213624.1997.11505962. ISSN 0021-3624.
42. ^ Uhlmann, Allon J. (2005). "The Dynamics of Stasis: Historical Inertia in The Evolution of the Australian Family". The Australian Journal of Anthropology. 16 (1): 31–46. doi:10.1111/j.1835-9310.2005.tb00108.x. ISSN 1035-8811.
43. ^ Dillehay, Ronald C.; Insko, Chester A.; Smith, M. Brewster (1966). "Logical consistency and attitude change". Journal of Personality and Social Psychology. 3 (6): 646–654. doi:10.1037/h0023286. ISSN 1939-1315. PMID 5939001.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Cognitive inertia
|
None
| 26,318 |
wikipedia
|
https://en.wikipedia.org/wiki/Cognitive_inertia
| 2021-01-18T18:52:36 |
{"wikidata": ["Q4200966"]}
|
A number sign (#) is used with this entry because of evidence that Weaver syndrome (WVS) is caused by heterozygous mutation in the EZH2 gene (601573) on chromosome 7q36.
Description
Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (117550), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).
The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.
Sotos syndrome (117550), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (601573) on chromosome 5q35.
Clinical Features
Weaver et al. (1974) described 2 'strikingly similar' unrelated male infants who had accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly. Dysmorphic facial features included large bifrontal diameter, flat occiput, large ears, ocular hypertelorism, long philtrum, and relative micrognathia. Reports by Gemme et al. (1980), Weisswichert et al. (1981), Hall (1985), and Ardinger et al. (1986) suggested that the Weaver syndrome (also called the Weaver-Smith syndrome) is a distinct entity. Other features included psychomotor delay, looseness of skin, and hernias.
Roussounis and Crawford (1983) reported affected sibs. However, Cole et al. (1992) reported on a follow-up of the surviving sib; chromosome analysis showed a 46,XX,5p- karyotype, indicating that this recognized chromosomal syndrome was the likely diagnosis.
Dawood (1985) reported a patient whose case was also pictured by Beighton (1988). The child weighed 10.2 kg at birth and had large ears, long philtrum, and protuberant lower lip, as well as an umbilical hernia and excessive skin folds. At the age of 14 months, he weighed 30 kg, and progressive thoracolumbar kyphosis associated with platyspondyly and vertebral wedging had developed.
Teebi et al. (1989) noted that most of the approximately 21 cases reported after the original article by Weaver et al. (1974) were sporadic, and that because the diagnosis in all cases has not been considered completely certain (see Fitch, 1985), it was difficult to draw any definite conclusions about a possible genetic basis. Teebi et al. (1989) described a brother and sister, born to consanguineous Bedouin parents, who manifested features resembling those of Weaver syndrome. Both had accelerated growth of prenatal onset, hypotonia, psychomotor retardation, excess loose skin, peculiar craniofacial and acral anomalies, dental dysplasia and/or serrated gums, joint laxity, and hoarse, low-pitched cry. One of them had accelerated harmonic skeletal maturation. The acral anomalies included short fifth digit with clinodactyly V. However, Cole et al. (1992) questioned that either case reported by Teebi et al. (1989) had the Weaver-Smith (WSS) syndrome. The younger sib did not exhibit accelerated growth and had delayed bone maturation at the age of 13 months.
Greenberg et al. (1989) described a patient with presumed Weaver syndrome who was followed for more than 20 years. At the age of 25, her height (187 cm), as well as her weight and head circumference, was above the 98th centile.
Cole et al. (1992) presented the details of 4 new cases of Weaver-Smith syndrome and reviewed the published reports. They suggested that in the early years of life the facial features are characteristic; despite retrognathia, the chin is distinctive and may be dimpled. Bone age is advanced. Cole et al. (1992) pointed out that WSS may be difficult to differentiate from Sotos syndrome (117550), but early photographs may be distinguishing because there is likely to be a longer face and jaw in Sotos syndrome than in WSS.
Dumic et al. (1993) described unlike-sex twins with this disorder, thought to be in classic form, and their mildly affected mother. They suggested autosomal dominant inheritance. The twins showed overgrowth, macrocephaly, and unusual facial features. The mother showed macrocephaly, long philtrum, hoarse voice, large ears, and hyperextensibility of the fingers--all features found in both twins. All 3 showed palmar and plantar hyperhidrosis, and the twins showed nail dysplasia. Fryer et al. (1997) questioned the certainty of the diagnosis in the cases described by Dumic et al. (1993), but provided further evidence for autosomal dominant inheritance by describing an affected father and daughter. The daughter had accelerated growth, advanced bone age, characteristic facial features, flat, deep-set nails, and developmental delay. The father had had accelerated growth in childhood and exhibited macrocephaly, large hands, deep-set nails, and facial features similar to those of his daughter.
Opitz et al. (1998) reported affected mother and daughter. The mother was described as a large infant and 'as tall as her teacher in school.' Her adult height was 185.4 cm, and she had mandibular prognathism and a prominent pointed chin. The daughter showed a prominent forehead with sparseness of frontal hair and a 'ruddy' or flushed complexion, especially of the nose and perioral area. She had prominent features of the congenital hypotonia/lymphedema sequence with hypermobile joints, especially at the knees and ankles, lymphedema nails (especially toenails), and a high total ridge count (TRC) of the fingertip dermatoglyphics. The mother also had a high TRC and a receding frontal hairline.
Proud et al. (1998) noted that although there had been 3 reports of close relatives (sibs or both parent and offspring) affected with Weaver syndrome, the disorder generally occurs sporadically, and the recurrence risk in sporadic cases appears to be low. Proud et al. (1998) reported a family in which the propositus and his sister were born with the facial phenotype, clubfeet, and macrosomia characteristic of Weaver syndrome. Their father had macrosomia and macrocephaly as an adult, and childhood photos showed clearly that he had Weaver syndrome. Two sisters of the propositus had normal growth and development. Proud et al. (1998) advanced this family as an example of autosomal dominant inheritance. The father was 193 cm tall and weighed 124.1 kg. The occipital-frontal circumference was 62.8 cm (+5 SD). The hands measured large. At birth the propositus was noted to have macrocephaly, ocular hypertelorism, downslanting palpebral fissures, micrognathia, finger contractures, and dislocated left hip in addition to bilateral talipes equinovarus.
Freeman et al. (1999) described pachygyria in an infant thought to have Weaver syndrome.
Derry et al. (1999) reported a mother and son with probable Weaver syndrome. The mother had developed an ovarian endodermal sinus tumor at the age of 17 years. Derry et al. (1999) pointed out the association of other overgrowth syndromes with neoplasia.
Kelly et al. (2000) described half brothers with Weaver syndrome whose father had essentially normal physical findings apart from tall stature, but who, like his sons, had cervical spine anomalies. Although these anomalies are variable, they may represent a consistent radiographic finding in Weaver syndrome that can aid in the diagnosis of affected adults. One of the brothers had a sacrococcygeal teratoma that was resected at birth; the authors stated that he represented the third reported patient with Weaver syndrome and neoplasia.
Basel-Vanagaite (2010) described a 4.5-year-old girl with 'typical' Weaver syndrome, born of nonconsanguineous Jewish parents, who developed acute lymphoblastic leukemia. She exhibited speech and motor delays, with relatively normal cognitive abilities, and had a hoarse voice. Examination revealed somewhat sparse hair, broad forehead, broad straight eyebrows, hypertelorism, prominent wide philtrum, wide cupid bow, mild micrognathia, broad face and neck, fleshy earlobes, sloping shoulders, broad thumbs, deep-set and narrow nails, loose palmar skin, and mild hypertrichosis. Her hands and feet were large, and she had mild scoliosis and joint hyperlaxity. Neurologic, eye, and hearing findings were normal. At the chronologic age of 4.3 years, carpal bone age was compatible with 7.8 years, whereas the distal radial and ulnar epiphyses were compatible with a bone age of 5.75 years. At 4.3 years of age, evaluation of severe back pain with vertebral changes resulted in a diagnosis of acute lymphoblastic leukemia. Microarray analysis and sequencing of the NSD1 gene (601573) were negative. Basel-Vanagaite (2010) stated that tumors or hematologic malignancy in Weaver syndrome had previously been reported in 6 patients, for an overall frequency of approximately 11%, but noted that this was likely to be an overestimate, biased by failure to report cases without tumors and overreporting of cases with this rare association.
Gibson et al. (2012) provided follow-up on 'patient 1,' the 18-month-old male infant originally reported by Weaver et al. (1974), then 30 years of age, and described 2 additional unrelated patients with Weaver syndrome, an 11-year-old girl and a 19-year-old woman. Features shared by all 3 patients included excessive growth of prenatal onset, accelerated osseous maturation, hoarse low-pitched cry, mild intellectual disability, poor fine motor coordination, poor balance and gravitational insecurity, macrocephaly, large bifrontal diameter, large ears, downslanting palpebral fissures, long philtrum, retrognathia, prominent digit pads, thin deep-set nails, umbilical hernia, and 10- to 20-degree scoliosis.
Diagnosis
There has been considerable debate whether Sotos and Weaver syndromes are representative of locus or allelic heterogeneity (Cole, 1998; Opitz et al., 1998). The facial appearance is somewhat similar in the 2 disorders, but experienced dysmorphologists believe they are distinct. Clinical features occurring in Weaver syndrome include a hoarse low-pitched cry, metaphyseal flaring of the femurs, deep-set nails, prominent fingertip pads, and camptodactyly.
Opitz et al. (1998) discussed the differentiation of the 2 overgrowth syndromes, that of Sotos and that of Weaver, and the question of whether the similarities are sufficient to consider them 1 entity. Possible phenotypic differences between the 2 syndromes pointed out by Opitz et al. (1998) were the following: the Sotos syndrome may be a cancer syndrome, whereas the Weaver syndrome is not (although a neuroblastoma had been reported in the latter disorder). In Sotos syndrome there is remarkably advanced dental maturation; this is rarely commented on in Weaver syndrome. In Weaver syndrome, there are more conspicuous contractures and a facial appearance that experts find convincingly different from that in Sotos syndrome. Opitz et al. (1998) favored allelic heterogeneity as the explanation for the similarities between Sotos and Weaver syndromes. They suggested that mapping and isolation of the causative gene or genes would settle the issue.
Gibson et al. (2012) stated that features distinguishing Weaver syndrome from Sotos syndrome include retrognathia with a prominent chin crease, sometimes described as a 'stuck-on chin,' increased prenatal growth, and a carpal bone age that is greatly advanced compared to metacarpal and phalangeal age.
Molecular Genetics
Gibson et al. (2012) performed exome sequencing in 2 unrelated patients with Weaver syndrome, including 1 of the patients originally described by Weaver et al. (1974), and their 4 unaffected parents. In both patients, heterozygous de novo mutations were identified in the EZH2 gene (Y153del, 601573.0001 and H694Y, 601573.0002, respectively); the presence of the mutations and their de novo status were confirmed by Sanger sequencing. Sequencing of EZH2 in a third patient with Weaver syndrome revealed heterozygosity for another de novo missense mutation (P132S; 601573.0003). Gibson et al. (2012) noted that a somatic mutation at his694 had previously been found in chronic myelomonocytic leukemia (see 252270), as well as mutations in nearby residues at positions 690 and 693 in other hematologic malignancies (Makishima et al., 2010). Given that patients with Weaver syndrome had been reported to develop tumors or malignancies, including acute lymphoblastic leukemia, Gibson et al. (2012) suggested that constitutive EZH2 mutations might confer a mild predisposition to malignancy.
INHERITANCE \- Autosomal dominant GROWTH Height \- Increased prenatal/postnatal length Weight \- Increased prenatal/postnatal weight \- Weight more increased than height HEAD & NECK Head \- Macrocephaly \- Large bifrontal diameter \- Flattened occiput Face \- Long philtrum \- Round face in infancy \- Retrognathia \- Prominent chin crease Ears \- Large ears Eyes \- Strabismus \- Hypertelorism \- Epicanthal folds \- Downslanting palpebral fissures Nose \- Depressed nasal bridge CHEST Ribs Sternum Clavicles & Scapulae \- Short ribs Breasts \- Inverted nipples ABDOMEN External Features \- Umbilical hernia \- Diastasis recti \- Excessive appetite GENITOURINARY External Genitalia (Male) \- Inguinal hernia \- Hydrocele Internal Genitalia (Male) \- Cryptorchidism SKELETAL \- Advanced bone age \- Dysharmonic bone age (carpals more advanced than phalanges) Spine \- Scoliosis \- Kyphosis Pelvis \- Small iliac wings \- Coxa valga Limbs \- Limited elbow extension \- Limited knee extension \- Flared metaphyses (especially distal femora and humeri) Hands \- Camptodactyly \- Broad thumbs \- Prominent fingertip pads \- Large hands \- Clinodactyly \- Carpal bone development advanced over that of other hand bones Feet \- Talipes equinovarus \- Calcaneovalgus \- Metatarsus adductus \- Short fourth metatarsals \- Prominent toe pads \- Pes cavus \- Clinodactyly \- Overriding toes SKIN, NAILS, & HAIR Skin \- Loose skin \- Increased pigmented nevi Nails \- Thin, deep-set nails Hair \- Thin hair NEUROLOGIC Central Nervous System \- Speech delay \- Dysarthric speech \- Slurred speech \- Developmental delay \- Mental retardation \- Hypertonia \- Spasticity \- Hypotonia \- Seizures, tonic-clonic or absence (in some patients) \- Absent septum pellucidum \- Lateral ventricle dilatation \- Behavioral problems VOICE \- Coarse, low-pitched voice MISCELLANEOUS \- Most cases are sporadic \- Significant clinical overlap with Sotos syndrome ( 117550 ) MOLECULAR BASIS \- Caused by mutation in the homolog 2 of Drosophila enhancer of zeste (EZH2, 601573.0001 ) ▲ 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
WEAVER SYNDROME
|
c0265210
| 26,319 |
omim
|
https://www.omim.org/entry/277590
| 2019-09-22T16:21:12 |
{"doid": ["14731"], "mesh": ["C536687"], "omim": ["277590"], "icd-10": ["Q87.3"], "orphanet": ["3447"], "synonyms": ["Alternative titles", "WEAVER-SMITH SYNDROME"], "genereviews": ["NBK148820"]}
|
Lithium toxicity
Other namesLithium overdose, lithium poisoning
A bottle of lithium capsules
SpecialtyToxicology
SymptomsTremor, increased reflexes, trouble walking, kidney problems, altered level of consciousness[1]
ComplicationsSerotonin syndrome, brain damage[1]
TypesAcute, chronic, acute on chronic[1]
CausesExcessive intake, decreased excretion[1]
Risk factorsDehydration, low sodium diet, kidney problems[1]
Diagnostic methodBased on symptoms and a lithium level[1][2]
TreatmentGastric lavage, whole bowel irrigation, hemodialysis[1]
PrognosisLow risk of death[3]
Lithium toxicity, also known as lithium overdose, is the condition of having too much lithium.[1] Symptoms may include a tremor, increased reflexes, trouble walking, kidney problems, and an altered level of consciousness.[1] Some symptoms may last for a year after levels return to normal.[1] Complications may include serotonin syndrome.[1]
Lithium toxicity can occur due to excessive intake or decreased excretion.[1] Excessive intake may be either a suicide attempt or accidental.[1] Decreased excretion may occur as a result dehydration such as from vomiting or diarrhea, a low sodium diet, or from kidney problems.[1] The diagnosis is generally based on symptoms and supported by a lithium level of greater than 1.2 mEq/L.[1][2]
Gastric lavage and whole bowel irrigation may be useful if done early.[1] Activated charcoal is not effective.[1] For severe toxicity hemodialysis is recommended.[1] The risk of death is generally low.[3] Acute toxicity generally has better outcomes than chronic toxicity.[4] In the United States about 5,000 cases are reported to poison control centers a year.[2] Lithium toxicity was first described in 1898.[1]
## Contents
* 1 Signs and symptoms
* 1.1 Acute toxicity
* 1.2 Chronic toxicity
* 1.3 Acute on chronic toxicity
* 1.4 Complications
* 2 Pathophysiology
* 3 Diagnosis
* 4 Treatment
* 5 References
## Signs and symptoms[edit]
Symptoms of lithium toxicity can be mild, moderate, or severe.[1]
Mild symptoms include nausea, feeling tired, and tremor and occur at a level of 1.5 to 2.5 mEq/L.[1] Moderate symptoms include confusion, an increased heart rate, low muscle and tone and occur at a level of 2.5 to 3.5 mEq/L.[1] Severe symptoms include coma, seizures, low blood pressure and increased body temperature which occur at a lithium concentration greater than 3.5 mEq/L.[1] When lithium overdoses produce neurological deficits or cardiac toxicity, the symptoms are considered serious and can be fatal.[5]
### Acute toxicity[edit]
In acute toxicity, people have primarily gastrointestinal symptoms such as vomiting and diarrhea, which may result in volume depletion. During acute toxicity, lithium distributes later into the central nervous system causing dizziness and other mild neurological symptoms.[6]
### Chronic toxicity[edit]
In chronic toxicity, people have primarily neurological symptoms which include nystagmus, tremor, hyperreflexia, ataxia, and change in mental status. During chronic toxicity, the gastrointestinal symptoms seen in acute toxicity are less prominent. The symptoms are often vague and nonspecific.[7]
### Acute on chronic toxicity[edit]
In acute on chronic toxicity, people have symptoms of both acute and chronic toxicity.
### Complications[edit]
People who survive an intoxication episode may develop persistent health problems.[8] This group of persistent health symptoms are called syndrome of irreversible lithium-effected neurotoxicity (SILENT).[9] The syndrome presents with irreversible neurological and neuro-psychiatric effects.[10] The neurological signs are cerebellar dysfunction, extrapyramidal symptoms, and brainstem dysfunction.[11] The neuro-psychiatric findings present with memory deficits, cognitive deficits, and sub-cortical dementia. For a diagnosis, the syndrome requires the absence of prior symptoms and persistence of symptoms for greater than 2 months after cessation of lithium.[12]
## Pathophysiology[edit]
Lithium is readily absorbed from the gastrointestinal tract.[5] It is distributed to the body with higher levels in the kidney, thyroid, and bone as compared to other tissues. Since lithium is almost exclusively excreted by the kidneys, people with preexisting chronic kidney disease are at high risk of developing lithium intoxication.[13] Lithium toxicity can be mistaken for other syndromes associated with antipsychotic use, such as serotonin syndrome because lithium increases serotonin metabolites in the cerebrospinal fluid.[14]
There are several drug interactions with lithium. Interactions can occur from typical antipsychotics or atypical antipsyhcotics. In particular, certain drugs enhance lithium levels by increasing renal re-absorption at the proximal tubule. These drugs are angiotensin-converting enzyme inhibitors, non-steroidal anti-inflammatory drugs and thiazide diuretics.[13]
## Diagnosis[edit]
The diagnosis is generally based on symptoms and supported by a lithium level blood level.[1][2] Blood levels are most useful six to twelve hours after the last dose.[2] The normal serum lithium level in those on treatment is between 0.6-1.2 mEq/L.[1] Some blood tubes contain lithium heparin which may result in falsely positive results.[2]
When lithium toxicity is suspected tests may include:
* fingerstick glucose
* serum lithium concentration
* basic metabolic panel to assess renal function
* serum acetaminophen and salicylate concentrations to rule out other sources of acute ingestion
* urine pregnancy tests to ensure management does not cause abortion
Imaging tests are not helpful.
## Treatment[edit]
If the person's lithium toxicity is mild or moderate, lithium dosage is reduced or stopped entirely. If the toxicity is severe, lithium may need to be removed from the body. The removal of lithium is done in a hospital emergency department. It may involve:
* Gastric lavage. A tube is placed through the nose or mouth into the stomach. The tube is used to remove lithium that has not been digested yet. It may also be used to put medicines directly into the stomach to help stop lithium from being absorbed.
* Use of an artificial kidney to clean the blood (dialysis). This is usually done only in the most severe cases.[4]
* Medications such as furosemide and intravenous normal saline due to appear to be effective in speeding the removal of lithium.[4]
People may be sent home once their lithium level is less than 1.5 mEq/L and they have no symptoms.[1]
## References[edit]
1. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z Hedya, Shireen A.; Avula, Akshay; Swoboda, Henry D. (2019). "Lithium Toxicity". StatPearls. StatPearls Publishing. Retrieved 22 December 2019.
2. ^ a b c d e f "Lithium Toxicity | California Poison Control System | UCSF". calpoison.org. Retrieved 22 December 2019.
3. ^ a b Baird-Gunning, J; Lea-Henry, T; Hoegberg, LCG; Gosselin, S; Roberts, DM (May 2017). "Lithium Poisoning". Journal of Intensive Care Medicine. 32 (4): 249–263. doi:10.1177/0885066616651582. PMID 27516079.
4. ^ a b c Waring, WS (2006). "Management of lithium toxicity". Toxicological Reviews. 25 (4): 221–30. doi:10.2165/00139709-200625040-00003. PMID 17288494.
5. ^ a b Watkins, J. B., Klaassen, C. D., & Casarett, L. J. (2010). Casarett & Doulls essentials of toxicology. Place of publication not identified: McGraw Hill Medical.
6. ^ Gitlin, Michael (2016-12-17). "Lithium side effects and toxicity: prevalence and management strategies". International Journal of Bipolar Disorders. 4 (1): 27. doi:10.1186/s40345-016-0068-y. ISSN 2194-7511. PMC 5164879. PMID 27900734.
7. ^ Netto, Ivan; Phutane, Vivek H. (2012). "Reversible Lithium Neurotoxicity: Review of the Literature". The Primary Care Companion for CNS Disorders. 14 (1). doi:10.4088/PCC.11r01197. ISSN 2155-7772. PMC 3357580. PMID 22690368.
8. ^ Singh, Hemendra; Ganjekar, Sundernag; Kalegowda, Anand; Thyloth, Murali (2015-07-01). "Unusual manifestation of therapeutic dose of lithium as syndrome of irreversible lithium-effectuated neurotoxicity". Journal of Mental Health and Human Behaviour. 20 (2).
9. ^ "Syndrome of Irreversible Lithium-Effectuated Neurotoxicity (Silent): Break the Silence". SHM Abstracts. Retrieved 2018-10-30.
10. ^ Adityanjee, null; Munshi, Kaizad R.; Thampy, Anita (2005). "The syndrome of irreversible lithium-effectuated neurotoxicity". Clinical Neuropharmacology. 28 (1): 38–49. doi:10.1097/01.wnf.0000150871.52253.b7. ISSN 0362-5664. PMID 15714160.
11. ^ Shah, Vivek C.; Kayathi, Pramod; Singh, Gurpreet; Lippmann, Steven (2015-06-04). "Enhance Your Understanding of Lithium Neurotoxicity". The Primary Care Companion for CNS Disorders. 17 (3). doi:10.4088/PCC.14l01767. ISSN 2155-7772. PMC 4578904. PMID 26644952.
12. ^ Adityanjee; Munshi, Thampy (2005). "The syndrome of irreversible lithium-effectuated neurotoxicity". Clinical Neuropharmacology. 28 (1): 38–49. doi:10.1097/01.wnf.0000150871.52253.b7. PMID 15714160.
13. ^ a b Haussmann, R.; Bauer, M.; von Bonin, S.; Grof, P.; Lewitzka, U. (2015-10-22). "Treatment of lithium intoxication: facing the need for evidence". International Journal of Bipolar Disorders. 3 (1): 23. doi:10.1186/s40345-015-0040-2. ISSN 2194-7511. PMC 4615994. PMID 26493348.
14. ^ Shahani, Lokesh (2012). "Venlafaxine Augmentation With Lithium Leading to Serotonin Syndrome". The Journal of Neuropsychiatry and Clinical Neurosciences. 24 (3): E47. doi:10.1176/appi.neuropsych.11080196. ISSN 0895-0172. PMID 23037683.
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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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Lithium toxicity
|
c0238242
| 26,320 |
wikipedia
|
https://en.wikipedia.org/wiki/Lithium_toxicity
| 2021-01-18T18:28:40 |
{"umls": ["C0238242"], "wikidata": ["Q21002488"]}
|
Prakash et al. (1989) described a mother and daughter with tracheopathia osteoplastica, also known as tracheobronchopathia osteochondroplastica. This disorder is characterized by cartilaginous or bony projections into the tracheobronchial lumen, with sparing of the posterior membranous portion of the tracheobronchial tree. Symptoms may, however, include dyspnea, coughing, hemoptysis, hoarseness, and wheezing. Tomography of the trachea may show beaded calcification of the tracheobronchial cartilages. Bronchoscopy is diagnostic. Histologically, the abnormal growths show heterotopic bone formation. The mother recorded by Prakash et al. (1989) had recurrent episodes of pneumonia attributable to bronchial obstruction by bony projections. In the daughter, removal of large lesions that obstructed the upper part of the trachea relieved dyspnea. No other reports of familial occurrence were found. Prakash et al. (1989) stated that this abnormality is detected in about 1 in 2,000 bronchoscopies.
Resp \- Tracheopathia osteoplastica \- Cartilaginous/bony projections into tracheobronchial lumen \- Dyspnea \- Coughing \- Hemoptysis \- Hoarseness \- Wheezing \- Recurrent pneumonia \- Bronchial obstruction Radiology \- Beaded calcification of tracheobronchial cartilages by CT 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
TRACHEOPATHIA OSTEOPLASTICA
|
c3887588
| 26,321 |
omim
|
https://www.omim.org/entry/189961
| 2019-09-22T16:32:26 |
{"omim": ["189961"], "orphanet": ["3348"], "synonyms": ["Alternative titles", "TRACHEOBRONCHOPATHIA OSTEOCHONDROPLASTICA"]}
|
A number sign (#) is used with this entry because of evidence that congenital heart defects, hamartomas of tongue, and polysyndactyly is caused by compound heterozygous mutation in the WDPCP gene (613580) on chromosome 2p15. One such patient has been reported.
Clinical Features
Among the children of healthy, unrelated parents, Orstavik et al. (1992) observed a sister and brother with congenital heart defects, hamartomas of the tongue, and polydactyly. Both had coarctation of the aorta, which was repaired in early infancy. In addition, the girl had atrioventricular canal; she died postoperatively at age 4 years. The boy had fibrous subaortic stenosis and died of pneumonia at age 2 years. Both children had normal psychomotor development. The girl had total bony syndactyly between digits 3 and 4 of the right hand as well as an extra broad-based bony digit postaxially on both hands and a bifid right great toe. Three pea-sized polyps on the dorsum and left rim of the tongue, present from birth, were removed at the age of 1 year. When she was 1 year old, the parents had noted that the left leg was colder than the right. Although angiography showed no difference in blood supply of the legs, hypoplasia of the left lower limb became more obvious as she grew. The boy had a pedunculated postminimus on the left hand and 2 pea-sized polyps of the tongue. Orstavik et al. (1992) concluded that this might represent a previously unrecognized autosomal recessive syndrome or perhaps parental gonadal mosaicism for a dominant syndrome.
Digilio et al. (1996) reported a girl, the first child of healthy, nonconsanguineous parents with an unremarkable family history, who had congenital heart defects, hamartomas of the tongue, and polysyndactyly. She was born vaginally at term after an uncomplicated pregnancy. Birth parameters were normal. In the first month of life, she was found to have partial atrioventricular canal with a cleft of the mitral valve, and a common atrium with a septum between the pulmonary veins and the mitral valve (cor triatriatum type). Oral examination showed 3 polyps located on the dorsum and lateral rims of the tongue. These polyps were removed at 7 months of age and determined on histology to be hamartomas. She had postaxial polydactyly and cutaneous syndactyly of fingers 2 and 3 on the left hand and bilateral hallucal polysyndactyly. She also had an imperforate hymen. At 6 years of age facial appearance was mildly dysmorphic, with hypertelorism and retrognathia. Intellectual development was normal. X-ray examination showed a postaxial extra finger on the left hand and hexodactyly of both feet caused by hallucal duplication. The phalanges of the big toe were duplicated and deviated on the left, while only the distal phalanx was duplicated on the right. There were no additional skeletal anomalies. Ophthalmologic and audiometric evaluations were normal at age 6, as were cerebral, abdominal, and pelvic ultrasound examinations. Karyotype was 46,XX with no visible anomalies.
Saari et al. (2015) reported a girl, naturally conceived and the product of a 40-week singleton pregnancy, born to nonconsanguineous parents of mixed European ancestry. Birth parameters were normal. The patient was noted at birth to have type A postaxial polydactyly of both hands and broad halluces with 2/3 toe syndactyly. Radiographs revealed bilateral duplication of the fifth metacarpals with biphalangeal accessory digits and duplication of both halluces. Coarctation of the aorta was detected in the neonatal period and repaired surgically at 2 months of age. During infancy, the patient was found to have 2 growths on the right ventral surface of the tongue, causing feeding difficulty; these growths were resected at age 6 months and found to be lipomatous hamartomas. Pharyngeal and laryngeal anatomy, growth parameters, facial features, and motor and language development were normal. A diagnosis of CHDTHP was considered. Because mutation in a Bardet-Biedl syndrome (BBS; see 209900)-related gene was found, the patient was investigated for ocular, renal, and pelvic abnormalities; none of these was found (see MOLECULAR GENETICS).
Molecular Genetics
By whole-exome sequencing, Saari et al. (2015) detected compound heterozygosity for mutations in the WDPCP gene, a frameshift (613580.0004) and a missense mutation (613580.0005), in a patient with CHDTHP. Each parent was heterozygous for 1 mutation; 2 asymptomatic sibs were heterozygous for the frameshift mutation. Because the WDPCP gene is mutated in BBS, Saari et al. (2015) referred their patient for a screen for ocular abnormalities. At age 3 years there were no signs of retinal degeneration, symptoms of nyctalopia, or peripheral vision loss. However, BBS-related retinal dystrophy typically occurs later than age 3 years. Additionally, renal and pelvic ultrasound revealed no abnormalities.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Hypertelorism (in 1 patient) Mouth \- Tongue polyps (hamartomas) \- No tongue lobulation \- No oral cleft CARDIOVASCULAR Heart \- Congenital heart disease \- Atrioventricular canal Vascular \- Coarctation of the aorta GENITOURINARY Kidneys \- Normal kidneys SKELETAL Hands \- Syndactyly, fingers 2-3 \- Postaxial polydactyly Feet \- Hallux duplication, bilateral \- Broad hallux, bilateral \- Syndactyly, toes 2-3 NEUROLOGIC Central Nervous System \- Normal motor development \- Normal intellectual development MISCELLANEOUS \- Three patients reported, one with a WDPCP mutation (last curated January 2015) MOLECULAR BASIS \- Caused by mutation in the WD repeat-containing planar cell polarity effector gene (WDPCP, 613580.0005 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY
|
c2931046
| 26,322 |
omim
|
https://www.omim.org/entry/217085
| 2019-09-22T16:29:28 |
{"mesh": ["C535849"], "omim": ["217085"], "orphanet": ["1338"]}
|
Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.
## Epidemiology
It accounts for 6% to 8% of cases of obstructive azoospermia and affects about 1/1,000 males. It is also found in 98% of males with cystic fibrosis.
## Clinical description
Infertile patients with CBAVD produce small volumes of acidic sperm (<1 ml with a pH<7.0).
## Etiology
In 1990, mutations in the CFTR gene (the causative gene for cystic fibrosis) were identified in 42% of patients in a population of infertile males with CBAVD, suggesting that CBAVD is a genital form of cystic fibrosis. Since then, an exhaustive analysis of the 27 exons of the CFTR gene has led to the classification of CBAVD patients into four groups: i) patients with two mutations in the CFTR gene (19%), ii) patients with one mutation in the CFTR gene and having the IVS8-5T allele in the trans position (33%), iii) patients with either a mutation in the CFTR gene or having the IVS8-5T allele (27%) and iv) patients with neither the IVS8-5T allele nor a mutation in the CFTR gene (21%).
## Genetic counseling
The condition is transmitted as an autosomal dominant trait. The genetic data have important implications for genetic counselling: the method of intracytoplasmic microinjection of a single spermatozoon has successfully resolved the male infertility problem. However, the identification of a CFTR mutation in a CBAVD patient implies that a CFTR mutation in the patient's partner should be sought, as if a mutation is found, preimplantation or prenatal diagnosis can be proposed.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Congenital bilateral absence of vas deferens
|
c0403814
| 26,323 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=48
| 2021-01-23T17:09:34 |
{"gard": ["5461"], "mesh": ["C535984"], "omim": ["277180", "300985"], "umls": ["C0403814"], "icd-10": ["Q55.4"], "synonyms": ["Congenital bilateral agenesis of vas deferens", "Congenital bilateral aplasia of vas deferens"]}
|
Oculogyric crisis
SpecialtyNeurology
Oculogyric crisis (OGC) is the name of a dystonic reaction to certain drugs or medical conditions characterized by a prolonged involuntary upward deviation of the eyes. The term "oculogyric" refers to the bilateral elevation of the visual gaze,[1] but several other responses are associated with the crisis. Epilepsy can manifest as oculogyric seizures, also called versive seizures.[2]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 References
* 6 External links
## Signs and symptoms[edit]
Initial symptoms include restlessness, agitation, malaise, or a fixed stare. Then comes the more characteristically described extreme and sustained upward deviation of the eyes. In addition, the eyes may converge, deviate upward and laterally, or deviate downward. The most frequently reported associated findings are backwards and lateral flexion of the neck, widely opened mouth, tongue protrusion, and ocular pain. However it may also be associated with intensely painful jaw spasm which may result in the breaking of a tooth. A wave of exhaustion may follow an episode. The abrupt termination of the psychiatric symptoms at the conclusion of the crisis is most striking.[citation needed]
Other features that are noted during attacks include mutism, palilalia, eye blinking, lacrimation, pupil dilation, drooling, respiratory dyskinesia, increased blood pressure and heart rate, facial flushing, headache, vertigo, anxiety, agitation, compulsive thinking, paranoia, depression, recurrent fixed ideas, depersonalization, violence, and obscene language.[citation needed]
It is often not realized that in addition to the acute presentation, oculogyric crisis can develop as a recurrent syndrome, triggered by stress, and exposure to the drugs mentioned below.[citation needed]
## Causes[edit]
Drugs that can trigger an oculogyric crisis include neuroleptics (such as haloperidol, chlorpromazine, fluphenazine, olanzapine),[3] carbamazepine, chloroquine, cisplatin, diazoxide, levodopa,[4] lithium, metoclopramide, lurasidone, domperidone, nifedipine, pemoline,[citation needed] phencyclidine ("PCP"),[5] reserpine, and cetirizine, an antihistamine. High-potency neuroleptics are probably the most common cause in the clinical setting.
Other causes can include Aromatic L-amino acid decarboxylase deficiency,[6] postencephalitic Parkinson's, Tourette's syndrome, multiple sclerosis, neurosyphilis, head trauma, bilateral thalamic infarction, lesions of the fourth ventricle, cystic glioma of the third ventricle, herpes encephalitis, kernicterus and juvenile Parkinson's. Rule out for phencyclidine addiction or craving in case patient may simulate signs of EPS to receive procyclidine
## Diagnosis[edit]
The diagnosis of oculogyric crisis is largely clinical and involves taking a focused history and physical to identify possible triggers for the crisis and rule out other causes of abnormal ocular movements.[citation needed]
## Treatment[edit]
Immediate treatment of drug induced OGC can be achieved with intravenous antimuscarinic benzatropine or procyclidine; which usually are effective within 5 minutes, although may take as long as 30 minutes for full effect. Further doses of procyclidine may be needed after 20 minutes. Any causative new medication should be discontinued. Also can be treated with 25 mg diphenhydramine.[citation needed]
## References[edit]
1. ^ Koban, Yaran; Ekinci, Metin; Cagatay, Halil Huseyin; Yazar, Zeliha (March 2014). "Oculogyric crisis in a patient taking metoclopramide". Clinical Ophthalmology. 8: 567–569. doi:10.2147/OPTH.S60041. PMC 3964159. PMID 24672222.
2. ^ Epilepsy A to Z: A Concise Encyclopedia:Second Edition By Pierre Jallon, MD, Peter Kaplan, MB, FRCP, William Tatum, page 360
3. ^ Praharaj SK, Jana AK, Sarkar S, Sinha VK (December 2009). "Olanzapine-induced tardive oculogyric crisis". J Clin Psychopharmacol. 29 (6): 604–6. doi:10.1097/JCP.0b013e3181c00b08. PMID 19910730.
4. ^ Virmani T, Thenganatt MA, Goldman JS, Kubisch C, Greene PE, Alcalay RN (2014). "Oculogyric crises induced by levodopa in PLA2G6 parkinsonism-dystonia". Parkinsonism Relat. Disord. 20 (2): 245–7. doi:10.1016/j.parkreldis.2013.10.016. PMID 24182522.
5. ^ Tahir, Hassan; Daruwalla, Vistasp (2015). "Phencyclidine Induced Oculogyric Crisis Responding Well to Conventional Treatment". Case Reports in Emergency Medicine. 2015: 1–3. doi:10.1155/2015/506301. ISSN 2090-648X. PMC 4460230. PMID 26101673.
6. ^ Korenke, GC; Christen, HJ; Hyland, K; Hunneman, DH; Hanefeld, F (1997). "Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises". Eur J Paediatr Neurol. 1 (2–3): 67–71.
## External links[edit]
Classification
D
* ICD-10: H51.8
* ICD-9-CM: 378.87
* DiseasesDB: 34992
External resources
* eMedicine: emerg/338
* v
* t
* e
* Diseases of the human eye
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* Conjugate gaze palsy
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Other
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Infections
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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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Oculogyric crisis
|
c0085637
| 26,324 |
wikipedia
|
https://en.wikipedia.org/wiki/Oculogyric_crisis
| 2021-01-18T18:29:44 |
{"icd-9": ["378.87"], "icd-10": ["H51.8"], "wikidata": ["Q4333327"]}
|
Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Familial benign flecked retina
|
c1856718
| 26,325 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363989
| 2021-01-23T18:59:55 |
{"mesh": ["C565564"], "omim": ["228980"], "umls": ["C1856718"], "icd-10": ["H35.5"]}
|
A number sign (#) is used with this entry because of evidence that autosomal recessive congenital ichthyosis-9 (ARCI9) is caused by homozygous mutation in the CERS3 gene (615276) on chromosome 15q26.
Description
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010).
NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).
In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).
For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).
Clinical Features
Wu and Lee (2011) ascertained 6 patients, 5 male and 1 female, with autosomal recessive congenital ichthyosis in an aboriginal village in the central mountains of Taiwan. All patients had collodion membrane at birth, followed by the progressive appearance of generalized fine erythrodermic scales. Mild alopecia and palmoplantar hyperlinearity were also present. Microscopic examination revealed thick orthohyperkeratosis, hypergranulosis, moderate acanthosis, and mild perivascular lymphocytic infiltrates.
Radner et al. (2013) studied a 30-year-old Tunisian woman who had collodion membrane at birth and subsequently developed ichthyosiform erythroderma, with pronounced facial erythema and fine whitish scales present over her entire body, except for her legs, where the scales were large and brownish. She had moderate hyperlinearity of the palms, with yellowish plantar keratoderma on the pressure zones. Multiple melanocytic nevi were present on the backs of her hands. Histologic analysis of a patient skin biopsy showed acanthosis with thickening of the stratum granulosum, psoriasiform epidermal hyperplasia, and normal size of the detached stratum corneum. Ophthalmologic and echocardiographic examinations were normal.
Eckl et al. (2013) studied a large, multiply consanguineous German family segregating autosomal recessive congenital ichthyosis, in which the female proband presented at birth with extreme ectropion and eclabium with collodion membranes, which resolved within 1 week. After that, she showed moderate lamellar ichthyosis with mild erythroderma and improvement in the summer months. In addition, there was hypohidrosis, although sweating occurred on her nose. At 3 years of age, she showed severe scaling of the scalp and a pronounced keratotic lichenification with a prematurely aged appearance. She suffered from repeated uncomplicated bacterial and pityrosporum infections of the skin on her back and from pruritus. At 7 years of age, the scaling was lighter in color and milder, and she exhibited exacerbated erythroderma; strong lichenification was still present. Light microscopy revealed moderate compact orthohyperkeratosis, with hyperplastic papillomatous epidermis, and mild acanthosis. Ultrastructural analysis of skin biopsy specimens from the proband and an affected relative showed mild acanthosis and moderate to strong orthohyperkeratosis, with cleft-like inclusions in the stratum corneum and irregular vesicular structures in the granular layer.
Mapping
Wu and Lee (2011) performed genomewide homozygosity mapping in 5 Taiwanese patients with ARCI and 11 controls from a small, isolated population, and identified 7 SNPs on chromosome 15q26.3 with a p value less than 10(-6). The most significant SNP was rs6598375 (p = 1.54 x 10(-8)), and no other SNPs across the genome had a p value less than 10(-5). The patients shared a homozygous region at chromosome 15q26.3 involving 901,079 bases and a total of 121 SNPs.
In a large, multiply consanguineous German family segregating autosomal recessive congenital ichthyosis, Eckl et al. (2013) performed genomewide linkage analysis and obtained a lod score of 4.2 for a 3.4-Mb overlapping homozygous interval between SNPs rs12101356 and rs11637017 on chromosome 15q. Refined analysis increased the lod score to 6.9.
Molecular Genetics
In 6 Taiwanese patients with ARCI associated with SNPs on chromosome 15q26, Wu and Lee (2011) found that the genotype at the most strongly associated SNP (rs6598375) was GG for all patients and was AA for all 11 controls. Analysis of an additional 53 unaffected individuals from the isolated mountain village showed a prevalence of 3.12% for the rs6598375 G allele compared to 100% among patients (p = 1.26 x 10(-20)), and the estimated prevalence of ARCI in the village (9.76 x 10(-4)) was close the number of patients identified. Sequencing the exons and exon-intron boundaries of 6 genes within the 0.9-Mb region of homozygosity shared by the 6 patients revealed no mutations.
Radner et al. (2013) studied 4 patients from 3 consanguineous Tunisian families with features of Weill-Marchesani-like syndrome (613195), including short stature, brachydactyly with joint stiffness, microspherophakia, ectopia lentis, and mitral valve defects, who also exhibited collodion membrane at birth that evolved to generalized ichthyosis. The patients all shared a 100-kb deletion on chromosome 15q36.3 between SNPs rs1080492 and rs7179355 that encompassed the first 3 exons of the ADAMTS17 gene (607511), the complete sequence of the noncoding RNA FLJ42289, and exon 13 of the CERS3 gene, including the 3-prime UTR. Sequencing of the CERS3 gene in an unrelated Tunisian woman with isolated ichthyosis revealed a homozygous splice site mutation in the CERS3 gene (615276.0001), suggesting that the previously unreported skin phenotype in the patients with Weill-Marchesani-like syndrome was due to partial deletion of the CERS3 gene. The splice site mutation was not found in 96 population-matched controls, and analysis of the patient's skin compared to that of healthy controls suggested that mutated CERS3 affects the terminal differentiation process in human skin.
In a large, multiply consanguineous German family segregating autosomal recessive congenital ichthyosis mapping to chromosome 15q, Eckl et al. (2013) performed whole-exome sequencing and identified a homozygous missense mutation in the CERS3 gene (W15R; 615276.0002) that segregated fully with disease in the family and was not found in 200 control chromosomes. Analysis of CERS3 in 80 additional ARCI probands who were negative for mutation in known ARCI-associated genes revealed no further mutations.
INHERITANCE \- Autosomal recessive SKIN, NAILS, & HAIR Skin \- Collodion membrane at birth \- Fine erythrodermic scales, generalized \- Palmoplantar hyperlinearity \- Large brownish scales on lower extremities (in some patients) Skin Histology \- Orthohyperkeratosis, thick \- Hypergranulosis \- Acanthosis, moderate \- Perivascular lymphocytic infiltrates, mild Hair \- Mild alopecia MOLECULAR BASIS \- Caused by mutation in the ceramide synthase 3 gene (CERS3, 615276.0001 ) ▲ 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9
|
c0079154
| 26,326 |
omim
|
https://www.omim.org/entry/615023
| 2019-09-22T15:53:26 |
{"doid": ["0060718"], "mesh": ["D017490"], "omim": ["615023"], "orphanet": ["79394"], "genereviews": ["NBK1420"]}
|
Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. Most infants with thanatophoric dysplasia are stillborn or die shortly after birth from respiratory failure. A few affected individuals have survived into childhood with extensive medical help. Thanatophoric dysplasia is caused by mutations in the FGFR3 gene. While this condition is considered to be autosomal dominant, virtually all cases have occurred in people with no history of the disorder in their family.
Two major forms of thanatophoric dysplasia have been described, type I and type II. Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). Type II thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Thanatophoric dysplasia
|
c0039743
| 26,327 |
gard
|
https://rarediseases.info.nih.gov/diseases/85/thanatophoric-dysplasia
| 2021-01-18T17:57:23 |
{"mesh": ["D013796"], "orphanet": ["2655"], "synonyms": ["Dwarfism thanatophoric", "Thanatophoric Dwarfism", "TD"]}
|
A number sign (#) is used with this entry because of evidence that intellectual developmental disorder with short stature and variable skeletal anomalies (IDDSSA) is caused by homozygous mutation in the WIPI2 gene (609225) on chromosome 7p22. One such family has been reported.
Clinical Features
Jelani et al. (2019) reported a large consanguineous Pakistani family in which 6 individuals had a similar complex neurodevelopmental disorder. Two adult patients were described in detail. Features included severely impaired intellectual development with low IQ, speech and language impairment, and delayed acquisition of fine and gross motor milestones. Brain imaging showed global brain volume loss. Skeletal abnormalities included short stature, camptodactyly, fifth finger clinodactyly, thumb hypoplasia, overlapping toes, and kyphosis or lumbar vertebral abnormalities. ECG showed variable cardiac arrhythmias that were not clinically significant; echocardiograms were normal. Both patients also had subclinical hypothyroidism. Additional features included dyskinesia, dysarthria, and both calm and playful behavior.
Inheritance
The transmission pattern of IDDSSA in the family reported by Jelani et al. (2019) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 4 patients from a highly consanguineous Pakistani family with IDDSSA, Jelani et al. (2019) identified a homozygous missense mutation in the WIPI2 gene (V249M; 609225.0001). The mutation, which was found by a combination of homozygosity mapping and exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Two additional family members were affected, but DNA was not available for study. Fibroblasts derived from one of the patients showed impaired stress-induced formation of autophagosomes, with reduced WIPI2 puncta, reduced LC3 (MAP1LC3A; 601242) lipidation, and reduced autophagic flux compared to controls. In vitro functional expression studies in transfected HEK293 cells showed that the mutation significantly reduced the interaction of WIPI2 with other genes involved in autophagy, including ATG16L1 (610767); however, these abnormalities were not apparent in patient cells.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature CARDIOVASCULAR Heart \- Cardiac arrhythmias, variable, subclinical SKELETAL Spine \- Kyphosis \- Lumbar abnormalities Hands \- Fifth finger clinodactyly \- Camptodactyly \- Thumb hypoplasia Feet \- Overlapping toes NEUROLOGIC Central Nervous System \- Global developmental delay \- Impaired intellectual development \- Low IQ \- Poor speech \- Dysarthria \- Dyskinesias \- Cerebral atrophy ENDOCRINE FEATURES \- Hypothyroidism, subclinical MISCELLANEOUS \- One consanguineous Pakistani family has been reported (last curated May 2019) MOLECULAR BASIS \- Caused by mutation in the WD40 repeat protein interacting with phosphoinositides 2 gene (WIPI2, 609225.0001 ) ▲ 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES
|
None
| 26,328 |
omim
|
https://www.omim.org/entry/618453
| 2019-09-22T15:41:55 |
{"omim": ["618453"]}
|
Degenerative lumbosacral stenosis
Other namesCauda equina syndrome
Degenerative lumbosacral stenosis (DLSS), also known as cauda equina syndrome, is a pathologic degeneration in the lumbosacral disk in dogs; affecting the articulation, nerve progression, tissue and joint connections of the disk.[1][2] This degeneration causes compressions in soft tissues and nerve root locations in the ultimate caudal area of the medulla, causing neuropathic pain in the lumbar vertebrae.[3][4]
## Contents
* 1 Signs and symptoms
* 2 Research
* 3 Diagnosis
* 4 Treatment
* 5 References
## Signs and symptoms[edit]
DLSS has been found to affect dogs between the ages of 7 and 8, males ranging twice as higher than females in the research area. Medium to large-sized working breeds with high rates of activity are mostly affected by this disease, the German Shepherd breed being the most common on DLSS diagnosis.[1]
Common symptoms in dogs are physical difficulties in normal daily activities, such as:
* Mild to severe pain when walking (dragged hind limbs).[1]
* Discomfort when ascending or descending stairs.[1]
* Lumbar disturbances when resting or lying down.[1]
* Unwillingness to perform exercise.[1]
* Urinal and defecation discomfort.[3]
Behavioural problems will also be presented in dogs affected by DLSS, due to the pain they suffer on their lower back. It has been researched that there is a positive correlation regarding a dog's behaviour with the amount of lumbar vertebrae that are affected by this disease, respectively showing that behavioural disturbances are more likely to appear with dogs that have 3+ affected vertebrae. Symptoms such as anxiety, sudden loss of appetite, or mild aggressiveness when performing physical activities can become clear signs of this disease.[5]
## Research[edit]
DLSS is associated with behavioural problems depending on how much the disease affects the dog; in other words, the more tissue and bone that is affected by DLSS, the more reluctant the dog will be to perform any kind of physical activity. Its most general overview and research ground for understanding this pathological disease takes place in the military, since dogs who take part in the special forces (German and Dutch Shepherd, Labrador Retriever and Belgian Malinois being the most proper breeds) are widely studied as they progress through their incredibly active life. Those affected by DLSS, generally diagnosed in their retirement period, show a wide range of decreased activity when performing certain demanding tasks that require physical stress, thus, becoming crucial exemplars for lumbar diseases.[2][5]
## Diagnosis[edit]
DLSS is commonly identified through magnetic resonance imaging (MRI) or computed tomography (CT) due to their precision in recognising abnormalities in soft tissue and small bone structures.[2][4]
## Treatment[edit]
Medical treatment is necessary to correct this lumbar disease, generally varying from anti-inflammatory drugs (lacking steroids, such as: tramadol and gabapentin)[3] to surgical correction; surgery being the most effective of course. Dorsal Laminectomy is the most common procedure for DLSS treatment,[1][6] which implies the decompression or des-inflammation of soft tissues and nerve roots.↵Surgical fusion of the lumbosacral vertebrates has also been found to improve the affected vertebrae, since it reduces motion by eliminating certain nerve compressions located in the vertebral canal.[2] Specific facetectomy (fat surgery) can also be performed in order to maintain stability in the affected joint tissue.[1][4]
Alternative conservative or non-surgical treatment is also a convenient option with dogs that have not fully developed Degenerative Lumbosacral Stenosis; ranging from regular walks to underwater exercises that aid the affected lumbar vertebrae decompress and tone the corresponding muscle. Statistically, physiotherapy has a success rate of 79% in all affected patients. If there is no surgical intervention, oral tramadol and alternative gabapentin have shown to decrease the neuropathological pain dogs suffer when affected by the disease.[3]
## References[edit]
1. ^ a b c d e f g h Danielsson, Fredrik; Sjöström, Lennart (1999). "Surgical Treatment of Degenerative Lumbosacral Stenosis in Dogs". Veterinary Surgery. 28 (2): 91–98. doi:10.1053/jvet.1999.0091. ISSN 1532-950X.
2. ^ a b c d Jeffery, Nick D.; Barker, Andrew; Harcourt-Brown, Tom (2014-07-01). "What progress has been made in the understanding and treatment of degenerative lumbosacral stenosis in dogs during the past 30 years?". The Veterinary Journal. 201 (1): 9–14. doi:10.1016/j.tvjl.2014.04.018. ISSN 1090-0233.
3. ^ a b c d Giudice, Elisabetta; Crinò, Chiara; Barillaro, Giuseppe; Crupi, Rosalia; Macrì, Francesco; Viganò, Fabio; Di Pietro, Simona (2019-09-01). "Clinical findings in degenerative lumbosacral stenosis in ten dogs—A pilot study on the analgesic activity of tramadol and gabapentin". Journal of Veterinary Behavior. 33: 7–15. doi:10.1016/j.jveb.2019.05.004. ISSN 1558-7878.
4. ^ a b c Meij, Björn P.; Bergknut, Niklas (2010-09-01). "Degenerative Lumbosacral Stenosis in Dogs". Veterinary Clinics: Small Animal Practice. 40 (5): 983–1009. doi:10.1016/j.cvsm.2010.05.006. ISSN 0195-5616. PMID 20732601.
5. ^ a b Dodd, Tiana; Jones, Jeryl; Holásková, Ida; Mukherjee, Meenakshi (2019-08-02). "Behavioral problems may be associated with multi-level lumbosacral stenosis in military working dogs". Journal of Veterinary Behavior. doi:10.1016/j.jveb.2019.07.010. ISSN 1558-7878.
6. ^ Haan, JACEK J. de; Shelton, Shirley B.; Ackerman, Norman (1993). "Magnetic Resonance Imaging in the Diagnosis of Degenerative Lumbosacral Stenosis in Four Dogs". Veterinary Surgery. 22 (1): 1–4. doi:10.1111/j.1532-950X.1993.tb00359.x. ISSN 1532-950X.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Degenerative lumbosacral stenosis
|
None
| 26,329 |
wikipedia
|
https://en.wikipedia.org/wiki/Degenerative_lumbosacral_stenosis
| 2021-01-18T18:58:21 |
{"wikidata": ["Q85756231"]}
|
A number sign (#) is used with this entry because of evidence that congenital secretory sodium diarrhea (DIAR8) is caused by homozygous or compound heterozygous mutation in the NHE3 gene (SLC9A3; 182307) on chromosome 5p15.
For discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700).
Clinical Features
Holmberg and Perheentupa (1985) described a 9-year-old Finnish girl with congenital diarrhea that seemed to be caused by a specific defect in intestinal sodium absorption. The pregnancy was complicated by maternal polyhydramnios, and in the delivery room the patient had a distended abdomen and passed a voluminous watery stool, indicative of intrauterine onset of the diarrhea. Stool analysis showed an abnormally high chloride level, but an even higher sodium concentration. Administration of standard solutions used to treat congenital chloride diarrhea (CCD; see 214700) resulted in metabolic acidosis and vomiting, with an electrolyte status clearly different than that seen in infants with CCD. She improved after treatment with an alkalinizing sodium and potassium citrate solution, and had normal growth and development despite persistent watery diarrhea of more than 1 liter per day that did not cease on fasting. X-rays of the stomach and intestines were normal except for slight dilation of the ileal loops.
Janecke et al. (2015) reported 9 patients from 8 families with secretory sodium diarrhea. There was maternal polyhydramnios in all pregnancies, and all patients had watery secretory diarrhea and prominent abdominal distention after birth due to dilated fluid-filled loops of intestine, indicating that secretory diarrhea had begun prenatally. None of the patients exhibited syndromic features. Inflammatory bowel disease developed in 2 patients, with onset at 4 years of age in 1 patient, resulting in ileocecal resection and temporary ileostomy due to recurrent episodes of small bowel obstruction. The second patient presented at age 16 years with bloody diarrhea and ulceration in the rectum and sigmoid; 1 year later he had nodular lymphoid hyperplasia with ileal granulomas and colonic ulcers, and he passed 3 to 4 watery stools per day without bleeding. Intestinal anatomy, histology, and transit functions were normal in the other patients.
Molecular Genetics
In 2 unrelated patients with congenital sodium diarrhea (CSD), 1 of whom was a 37-year-old Finnish woman who had been originally studied by Holmberg and Perheentupa (1985), Janecke et al. (2015) performed whole-exome sequencing and identified compound heterozygosity for mutations in the SLC9A3 gene (see 182307.0001-182307.0004). In a 2.5-year-old Canadian girl with CSD, chromosomal microarray analysis revealed compound heterozygosity for a 1.383-Mb deletion on chromosome 5p15.33 that encompassed the SLC9A3 gene, and a missense mutation in SLC9A3 (R382Q; 182307.0003). The same R382Q missense mutation was identified in an apparently unrelated 1.5-year-old Canadian boy, in compound heterozygosity with a 1-bp deletion (182307.0004). Another 5 mutations were identified in 5 probands, including a homozygous missense mutation (A269T; 182307.0005) in 2 affected sibs. In 1 patient, a rare mechanism of recessive disease was revealed: the patient was homozygous for a frameshift mutation (182307.0006) inherited from her heterozygous mother, and SNP array analysis revealed maternal isodisomy of the entire chromosome 5 in the patient. None of the mutations was found in public databases, and segregation with disease was confirmed in 6 of the families by sequencing of DNA samples from available family members. Janecke et al. (2015) noted that probands from 8 additional CSD families were negative for mutation in the GUCY2C (601330) and SLC9A3 genes, indicating further genetic heterogeneity of congenital sodium diarrhea.
INHERITANCE \- Autosomal recessive ABDOMEN External Features \- Abdominal distension at birth, prominent Gastrointestinal \- Dilated fluid-filled loops of intestine at birth \- Watery diarrhea \- Elevated fecal sodium concentrations \- Inflammatory bowel disease (in some patients) PRENATAL MANIFESTATIONS Amniotic Fluid \- Polyhydramnios LABORATORY ABNORMALITIES \- Elevated fecal sodium concentrations \- Low urinary sodium concentrations MISCELLANEOUS \- Secretory diarrhea begins prenatally \- Inflammatory bowel disease may develop in childhood or adolescence MOLECULAR BASIS \- Caused by mutation in the solute carrier family 9, member-3 gene (SLC9A3, 182307.0001 ) ▲ 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
DIARRHEA 8, SECRETORY SODIUM, CONGENITAL
|
c0267663
| 26,330 |
omim
|
https://www.omim.org/entry/616868
| 2019-09-22T15:47:41 |
{"doid": ["0060777"], "mesh": ["C562576"], "omim": ["616868"], "orphanet": ["103908"], "synonyms": ["Alternative titles", "DIARRHEA, CONGENITAL SODIUM"]}
|
A rare, genetic language disorder characterized by the core phenotype of childhood apraxia of speech (CAS) while also further aspects such as receptive and expressive language impairment or oral motor dyspraxia often occur.
## Epidemiology
The exact prevalence is unknown. Up to date, approximately 35 cases from 11 families with intragenic, pathogenic variants in FOXP2 are described worldwide in the literature. Moreover, a few individuals with speech and language disorders and larger deletions on chromosome 7 including FOXP2 or other structural variants in or next to FOXP2 have been reported.
## Clinical description
The disorder is characterized by the core phenotype of childhood apraxia of speech, which is defined as the impairment of the precision and consistency of movements underlying speech in the absence of neuromuscular deficits. Initial signs may include absence of babbling or delay of first words during infancy. Additional manifestations regarding speech and language include dysarthria, oral motor dyspraxia, receptive and expressive language impairment, and impairment of reading and spelling. Furthermore, global developmental delay, autistic features, and minor facial dysmorphism have been described occasionally.
## Etiology
The disorder is caused by haploinsufficiency of FOXP2 (7q31.1), encoding forkhead box protein P2, a member of the forkhead box family of transcriptions factors. Usually, heterozygous missense variants within the forkhead domain or truncating variants are identified. Furthermore, larger deletions containing FOXP2 or structural aberrations disrupting FOXP2 directly or by positional effects have been reported.
## Diagnostic methods
Diagnosis is usually by targeted analysis upon clinical suspicion or by more unbiased approaches such as chromosomal microarray analysis (deletions including FOXP2), multigene panel or exome sequencing.
## Differential diagnosis
Although different candidate genes are discussed in the literature, so far there are no other monogenic causes known for similar, isolated speech and language disorders. Syndromic disorders with overlapping, prominent speech and language impairment and a variety of additional clinical aspects (e. g. intellectual disability, epilepsy, growth phenotypes, malformations) include 16p11.2 microdeletion syndrome, 7q11.23 duplication syndrome, KANSL1-related intellectual disability syndrome, GRIN2A-related disorders.
## Antenatal diagnosis
In principle possible, if the underlying pathogenic variant in the family is known.
## Genetic counseling
Recurrence risk for siblings of an affected individual is low if the pathogenic variant occurred de novo and 50 % if it is inherited from one of the parents. Genetic counseling should be offered.
## Management and treatment
A multidisciplinary team including a speech and language pathologist, a pediatrician, an occupational therapist, and a neuropsychologist is required for evaluation of the phenotypic extent and to determine the individual treatment plan. Augmentative and alternative communication (use of sign language, picture boards or computers) may be useful in some cases.
## Prognosis
Prognosis is usually good in the context of intragenic FOXP2 variants, as clinical aspects are limited to speech and language impairment in most cases. However, learning disabilities or behavioral abnormalities may additionally occur. Though speech development and intelligibility usually improve over time, a lifelong speech and language impairment might be present. Larger deletions can be associated with more complex phenotypes.
* 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Childhood apraxia of speech
|
c0750927
| 26,331 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=209908
| 2021-01-23T18:46:15 |
{"gard": ["12889"], "mesh": ["D001072"], "omim": ["602081"], "synonyms": ["CAS", "Developmental verbal dyspraxia", "Speech and language disorder with orofacial dyspraxia", "Speech-language disorder type 1"]}
|
Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Pili torti-developmental delay-neurological abnormalities syndrome
|
c1849811
| 26,332 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2891
| 2021-01-23T17:07:33 |
{"gard": ["4362"], "mesh": ["C537398"], "omim": ["261990"], "umls": ["C1849811"]}
|
A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy and heart failure preceded by sensorineural hearing loss is caused by heterozygous mutation in the EYA4 gene (603550). One such family has been reported.
Clinical Features
Schonberger et al. (2000) described 2 kindreds with autosomal dominant transmission and age-related penetrance of both sensorineural hearing loss and dilated cardiomyopathy (DCM) in the absence of other disorders. Moderate to severe hearing loss was evident by late adolescence, whereas ventricular dysfunction produced progressive congestive heart failure after the fourth decade.
Mapping
Using DNA samples from their larger kindred (MCE) of 29 individuals to perform a genomewide linkage study, Schonberger et al. (2000) obtained a maximum lod of 4.88 at D6S2411 on chromosome 6q23-q24. The authors concluded that the disease locus must lie within a 2.8-cM interval between D6S975 and D6S292, a location that overlaps the nonsyndromic sensorineural hearing loss disease locus DFNA10 (601316).
In a kindred (MCE) with dilated cardiomyopathy and heart failure preceded by sensorineural hearing loss mapping to 6q23-q24, previously described by Schonberger et al. (2000), Schonberger et al. (2005) performed fine mapping that narrowed the critical interval to a 2.0-Mb region containing 8 known genes and several EST clusters.
Molecular Genetics
In a large kindred (MCE) with dilated cardiomyopathy and hearing loss linked to chromosome 6q23-q24, Schonberger et al. (2000) analyzed the candidate gene epicardin (603306), which encodes a transcription factor expressed in the myocardium and cochlea, but no mutations were identified.
In a kindred (MCE) with dilated cardiomyopathy and heart failure preceded by sensorineural hearing loss originally described by Schonberger et al. (2000), Schonberger et al. (2005) analyzed the 3 candidate genes within a 2.0-Mb critical region of linkage that are expressed in both heart and cochlea, EYA4 (603550), SGK (602958), and TCF21 (603306), and identified a deletion in the EYA4 gene (603550.0003) that was present in all affected family members and absent from 300 control chromosomes. The authors noted that previously described mutations causing dilated cardiomyopathy affected structural proteins, whereas EYA4 is a transcriptional coactivator.
INHERITANCE \- Autosomal dominant HEAD & NECK Ears \- Hearing loss, sensorineural, postlingual CARDIOVASCULAR Heart \- Progressive heart failure \- Sudden death \- Left ventricular dilation \- Left ventricular dysfunction \- Hypertrophic myocytes with enlarged hyperchromatic nuclei \- Increased interstitial fibrous connective tissue MISCELLANEOUS \- Based on description of one family (MCE) \- Some family members had hearing loss and no detectable heart disease MOLECULAR BASIS \- Caused by mutation in the EYA transcriptional coactivator and phosphatase 4 gene (EYA4, 603350.0003 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
CARDIOMYOPATHY, DILATED, 1J
|
c1854368
| 26,333 |
omim
|
https://www.omim.org/entry/605362
| 2019-09-22T16:11:23 |
{"doid": ["0110440"], "mesh": ["C565337"], "omim": ["605362"], "orphanet": ["217622"], "synonyms": ["Neurosensory deafness with dilated cardiomyopathy", "Sensorineural hearing loss with dilated cardiomyopathy", "Alternative titles", "Neurosensory hearing loss with dilated cardiomyopathy", "CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT"], "genereviews": ["NBK1309"]}
|
Periodic fever syndrome
Other namesAutoinflammatory diseases or Autoinflammatory syndromes
SpecialtyEndocrinology
Periodic fever syndromes are a set of disorders characterized by recurrent episodes of systemic and organ-specific inflammation. Unlike autoimmune disorders such as systemic lupus erythematosus, in which the disease is caused by abnormalities of the adaptive immune system, people with autoinflammatory diseases do not produce autoantibodies or antigen-specific T or B cells. Instead, the autoinflammatory diseases are characterized by errors in the innate immune system.[1]
The syndromes are diverse, but tend to cause episodes of fever, joint pains, skin rashes, abdominal pains and may lead to chronic complications such as amyloidosis.[2]
Most autoinflammatory diseases are genetic and present during childhood.[3] The most common genetic autoinflammatory syndrome is familial Mediterranean fever, which causes short episodes of fever, abdominal pain, serositis, lasting less than 72 hours. It is caused by mutations in the MEFV gene, which codes for the protein pyrin.
Pyrin is a protein normally present in the inflammasome. The mutated pyrin protein is thought to cause inappropriate activation of the inflammasome, leading to release of the pro-inflammatory cytokine IL-1β. Most other autoinflammatory diseases also cause disease by inappropriate release of IL-1β.[4] Thus, IL-1β has become a common therapeutic target, and medications such as anakinra, rilonacept, and canakinumab have revolutionized the treatment of autoinflammatory diseases.
However, there are some autoinflammatory diseases that are not known to have a clear genetic cause. This includes PFAPA, which is the most common autoinflammatory disease seen in children, characterized by episodes of fever, aphthous stomatitis, pharyngitis, and cervical adenitis. Other autoinflammatory diseases that do not have clear genetic causes include adult-onset Still's disease, systemic-onset juvenile idiopathic arthritis, Schnitzler syndrome, and chronic recurrent multifocal osteomyelitis. It is likely that these diseases are multifactorial, with genes that make people susceptible to these diseases, but they require an additional environmental factor to trigger the disease.
## Contents
* 1 Individual periodic fever syndromes
* 2 See also
* 3 Further reading
* 4 References
* 5 External links
## Individual periodic fever syndromes[edit]
Name OMIM Gene
Familial Mediterranean fever (FMF) 249100 MEFV
Hyperimmunoglobulinemia D with recurrent fever (HIDS). This is now (along with mevalonic aciduria) defined as a mevalonate kinase deficiency[5] 260920 MVK
TNF receptor associated periodic syndrome (TRAPS) 142680 TNFRSF1A
CAPS: Muckle–Wells syndrome (urticaria deafness amyloidosis) 191900 NLRP3
CAPS: Familial cold urticaria 120100 NLRP3
CAPS: Neonatal onset multisystem inflammatory disease (NOMID) 607115 NLRP3
Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA syndrome) none ?
Blau syndrome 186580 NOD2
Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) 604416 PSTPIP1
Deficiency of the interleukin-1–receptor antagonist (DIRA) 612852 IL1RN
Yao Syndrome (YAOS) 617321 NOD2
## See also[edit]
* Kawasaki disease \- possible autoinflammatory mechanism[6]
* Multisystem inflammatory syndrome in children
* List of cutaneous conditions
## Further reading[edit]
* Hobart A. Reimann, Periodic Disease: a probable syndrome including periodic fever, benign paroxysmal peritonitis, cyclic neutropenia and intermittent arthralgia. JAMA, 1948.[7]
* Hobart A Reimann, Periodic Disease: periodic fever, periodic abdominalgia, cyclic neutropenia, intermittent arthralgia, angioneurotic edema, anaphylactoid purpura and periodic paralysis. JAMA, 1949.[8]
* Hobart A Reimann, Moadié, J; Semerdjian, S; Sahyoun, PF, Periodic Peritonitis—Heredity & Pathology: report of seventy-two cases. JAMA, 1954.[9]
* Hobart A Reimann, Periodic fever, an entity: A collection of 52 cases. AmJMedSci, 1962.[10]
## References[edit]
1. ^ Masters SL, Simon A, Aksentijevich I, et al. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease*. Annu Rev Immunol 2009;27(1):621–68
2. ^ Stojanov S, Kastner DL (2005). "Familial autoinflammatory diseases: genetics, pathogenesis and treatment". Curr Opin Rheumatol. 17 (5): 586–99. doi:10.1097/bor.0000174210.78449.6b. PMID 16093838. S2CID 25948105.
3. ^ Hausmann, JS; Dedeoglu, F (July 2013). "Autoinflammatory diseases in pediatrics". Dermatologic Clinics. 31 (3): 481–94. doi:10.1016/j.det.2013.04.003. PMID 23827250.
4. ^ Jamilloux, Y; Bourdonnay, E; Gerfaud-Valentin, M; Py, BF; Lefeuvre, L; Barba, T; Broussolle, C; Henry, T; Sève, P (14 September 2016). "[Interleukin-1, inflammasome and autoinflammatory diseases]". La Revue de Médecine Interne. 39 (4): 233–239. doi:10.1016/j.revmed.2016.07.007. PMID 27639913.
5. ^ Houten SM, Frenkel J, Waterham HR (2003). "Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation". Cell. Mol. Life Sci. 60 (6): 1118–34. doi:10.1007/s00018-003-2296-4. PMID 12861380. S2CID 23745920.
6. ^ Marrani E, Burns JC, Cimaz R (2018). "How Should We Classify Kawasaki Disease?". Frontiers in Immunology. 9: 2974. doi:10.3389/fimmu.2018.02974. PMC 6302019. PMID 30619331.
7. ^ Reimann, Hobart A (1948). "Periodic Disease: a probable syndrome including periodic fever, benign paroxysmal peritonitis, cyclic neutropenia and intermittent arthralgia". JAMA. 136 (4): 239–244. doi:10.1001/jama.1948.02890210023004. PMID 18920089.
8. ^ Reimann, Hobart A (1949). "Periodic Disease: periodic fever, periodic abdominalgia, cyclic neutropenia, intermittent arthralgia, angioneurotic edema, anaphylactoid purpura and periodic paralysis". JAMA. 141 (3): 175–183. doi:10.1001/jama.1949.02910030005002. PMID 18139542.
9. ^ Reimann, Hobart A; Moadié, J; Semerdjian, S; Sahyoun, PF (1954). "Periodic Peritonitis—Heredity and Pathology". JAMA. 154 (15): 1254–1259. doi:10.1001/jama.1954.02940490018005. PMID 13151833.
10. ^ Reimann, Hobart A (1962). "Periodic fever, an entity: A collection of 52 cases". The American Journal of the Medical Sciences. 243 (Feb): 162–74. doi:10.1097/00000441-196202000-00006. PMID 14491227. S2CID 27897376.
## External links[edit]
Classification
D
* ICD-10: E85.0
* ICD-9-CM: 277.31
* MeSH: D056660
* DiseasesDB: 9836
External resources
* eMedicine: article/952254
* Understanding Autoinflammatory Diseases \- US National Institute of Arthritis and Musculoskeletal and Skin Diseases
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Periodic fever syndrome
|
c0015974
| 26,334 |
wikipedia
|
https://en.wikipedia.org/wiki/Periodic_fever_syndrome
| 2021-01-18T18:35:59 |
{"mesh": ["D056660"], "umls": ["C0015974"], "icd-9": ["277.31"], "icd-10": ["A68.9"], "orphanet": ["101995", "93665"], "wikidata": ["Q3278145"]}
|
A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Macrostomia-preauricular tags-external ophthalmoplegia syndrome
|
None
| 26,335 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83619
| 2021-01-23T18:28:20 |
{"icd-10": ["Q87.0"]}
|
Source amnesia is the inability to remember where, when or how previously learned information has been acquired, while retaining the factual knowledge.[1] This branch of amnesia is associated with the malfunctioning of one's explicit memory. It is likely that the disconnect between having the knowledge and remembering the context in which the knowledge was acquired is due to a dissociation between semantic and episodic memory[2] – an individual retains the semantic knowledge (the fact), but lacks the episodic knowledge to indicate the context in which the knowledge was gained.
Memory representations reflect the encoding processes during acquisition. Different types of acquisition processes (e.g.: reading, thinking, listening) and different types of events (e.g.: newspaper, thoughts, conversation) will produce mental depictions that perceptually differ from one another in the brain, making it harder to retrieve where information was learned when placed in a different context of retrieval.[3] Source monitoring involves a systematic process of slow and deliberate thought of where information was originally learned. Source monitoring can be improved by using more retrieval cues, discovering and noting relations and extended reasoning.[3]
## Contents
* 1 Causes
* 1.1 Frontal lobe damage
* 1.2 Age-related
* 1.3 Alzheimer's disease
* 1.4 Schizophrenia
* 1.5 Post traumatic stress disorder
* 1.6 Depression
* 1.7 Hypnosis
* 2 Diagnostic tests
* 2.1 Wisconsin Card Sorting Test (WCST)
* 2.2 Verbal fluency test
* 2.3 Stroop Color-Naming Task
* 2.4 Old-New Recognition Test
* 3 Prevention
* 3.1 General population
* 3.2 Children
* 3.3 Older adults
* 4 Implications in eyewitness testimony
* 5 Related phenomena
* 5.1 Post-hypnotic amnesia
* 5.2 Misattributed familiarity
* 5.3 Cryptomnesia
* 6 See also
* 7 References
## Causes[edit]
Source amnesia is not a rare phenomenon – everybody experiences it on a near daily basis as, for much of our knowledge, it is important to remember the knowledge itself, rather than its source.[4] However, there are extreme examples of source amnesia caused by a variety of factors.
Phineas Gage exemplifies an individual who suffered frontal lobe damage. A large iron rod was driven through his frontal left lobe effecting changes on his personality.[5]
### Frontal lobe damage[edit]
Individuals with frontal lobe damage have deficits in temporal context memory;[6] source memory can also exhibit deficits in those with frontal lobe damage.[7] It appears that those with frontal lobe damage have difficulties with recency and other temporal judgements (e.g., placing events in the order they occurred),[8] and as such they are unable to properly attribute their knowledge to appropriate sources (i.e., suffer source amnesia). Those individuals with frontal lobe damage have normal recall of facts, but they make significantly more errors in source memory than control subjects, with these effects becoming apparent as shortly as 5 minutes after the learning experience. Individuals with frontal lobe damage often mistakenly attribute the knowledge they have to some other source (e.g., they read it somewhere, saw it on TV, etc.) but rarely attribute it to having learned it over the course of the experiment. It appears that frontal lobe damage causes a disconnection between semantic and episodic memory – in that the individuals cannot associate the context in which they acquired the knowledge to the knowledge itself.[7]
### Age-related[edit]
Elderly individuals have been shown to exhibit source amnesia. Compared to younger individuals, in experiments where the individuals are presented with obscure or even made up trivia facts, older people remember less information overall in both recall and recognition tasks and they often misattribute the source of their knowledge, at time periods of both long and short delays.[1][9]
This effect is potentially due to the neuronal loss associated with aging occurring mainly in the frontal lobes.[10][11] It has been previously noticed that frontal lobe damage can cause source amnesia, so the loss of neurons in this area of the brain associated with aging may very well be the cause of the age-related source amnesia seen.[7]
### Alzheimer's disease[edit]
Alzheimer's disease (AD), which is known to be associated with frontal lobe dysfunction,[12] is implicated as a cause of source amnesia.[13] In laboratory conditions, one study found source monitoring to be so poor that the AD participants were correctly performing source memory attributions at approximately chance.[13] This lack of ability to attribute the source of memories is likely related to AD patients' deficits in reality monitoring. Reality monitoring, the process of distinguishing whether information originated from an external or an internal source,[14] relies on judgement processes to examine the qualitative characteristics of the information in order to determine if the information was real or imagined.[14] It appears that it is this process that is experiencing the dysfunction, which causes mild confabulation in some AD patients, as well as being related to the source amnesia experienced in some individuals with AD.
### Schizophrenia[edit]
Schizophrenia is associated with episodic memory deficits often characterized by a confusion of internal stimuli and real events.[15] It appears that individuals with schizophrenia often display failures in monitoring/remembering the source of information,[16] especially for self-generated items[15] – that is, they display source amnesia. This is a stable trait in this disease – one experiment found that over a two-year period, an individual's rate of source attributing errors was maintained, despite fluctuations in medication status and the individual's symptoms.[15] This effect is possibly due to the malformation of associations among aspects of an episode needed for remembering its source;[3] one neuroimaging study found that individuals with schizophrenia had lower activation of areas associated with source memory.[3]
Individuals with schizophrenia who display source memory deficits often do so due to reality-monitoring dysfunction, which is a contributing factor towards the hallucinations that characterize the disorder. One study found that schizophrenia patients were not only slower, but also less accurate, at tasks involving reality-monitoring.[17] The hallucinations that characterize schizophrenia are a result of deficit in reality monitoring – they exhibit an inability to differentiate between internally and externally derived information.[18] Overall, there is evidence of a relationship between source monitoring errors and the disorganized thinking that characterizes those who have schizophrenia[16] in that there is a strong tendency for those people with hallucinations to attribute their internally generated events (i.e.: hallucinations and delusions) to an external source (e.g., the experimenter).[15] That is, schizophrenia is characterized by failing to encode themselves as the source of the idea, compounded by attributing these ideas/beliefs to an external source,[15] all of which leads to those individuals with schizophrenia exhibiting behaviours typical of those with source amnesia; they misattribute the source of their knowledge, ideas, or beliefs.
### Post traumatic stress disorder[edit]
Post traumatic stress disorder (PTSD) is characterized by intrusive, vivid recollections of the traumatic event and impoverished episodic memory for all other events.[19] Those individuals with PTSD experience memory distortions caused by source amnesia, as well as false memory construction and unintentional integration of information that was not present for the original memory.[20] Not only do individuals with this condition experience less vivid and decontextualized episodic memory for all events outside of the traumatic experience,[21] but also, individuals with PTSD have difficulties with identifying the source of both emotional[22] and neutral[23] information overall. Those with PTSD may have poorer recall for the source of their knowledge due to deficits in the encoding process which creates weaker relationships between the item and its context.[3]
### Depression[edit]
Depression is associated with overly generalized memories and individuals with depression perform more poorly on source memory attribution tasks as compared to non-depressed individuals.[24] These individuals show a memory bias for remembering negative information, possibly due to enhanced amygdala activity during the encoding of emotional (particularly negative) information.[25] Overall, there is a relationship between the emotional arousal of an episode and its source memory – there is some evidence that the enhanced processing of negative memories results in poorer source memory,[26] and thus individuals who are depressed would have increased amounts of source amnesia.
### Hypnosis[edit]
Hypnosis as a cause of source amnesia involves carrying out hypnosis and having the subjects remember post-hypnotically, experiences they had during hypnosis as tested by asking the individuals about esoteric knowledge that they learned during hypnosis. These individuals typically have no recall of the hypnotic experience whatsoever however, when tested on these obscure pieces of knowledge they are able to supply the correct answer; thus demonstrating they have source amnesia – they are able to recall the knowledge but they lack the capacity to indicate the context in which they learned this knowledge. In fact, the subjects often attribute their knowledge of the obscure facts to learning experiences other than during hypnosis (e.g.: "I read it somewhere," "Somebody must have told me," etc.).[27]
## Diagnostic tests[edit]
### Wisconsin Card Sorting Test (WCST)[edit]
The Wisconsin Card Sorting Test is widely used in clinical settings to test for cognitive impairments, such as frontal lobe disorder which has been associated with source amnesia.[28]
Procedure
The visuo-spatial component of this test is devised of two sets of 12 identical cards. The figures on the cards differ with respect to color, quantity, and shape. The participants are then given a pile of additional cards and are asked to match each one to one of the previous cards.
Results
Patients suffering from frontal lobe dysfunction and ultimately source amnesia, will have much greater difficulty finishing this task successfully through method of strategy.[28]
### Verbal fluency test[edit]
The verbal fluency test is a widely and commonly used test to assess for frontal lobe dysfunction in patients.[8]
Procedure
Participants are asked to generate words beginning with letters that had previously been introduced to them (e.g.: generate a word beginning with 'A' or 'R').[8] They are given three 1-min trials (one trial per letter). The goal is to say as many different words possible that begin with the given letter.[28]
Results
The Verbal fluency test can assess for damage in the prefrontal lobes, which has been associated with patients suffering from source amnesia. Patients with frontal lobe disorder have trouble putting verbal items into a proper sequential order, monitor personal behaviors as well as a deficient judgment in recency. All of these behaviors are required for the proper recall of the source of a memory.[29]
### Stroop Color-Naming Task[edit]
Research has shown that the Stroop effect has numerous findings related to age and its effect on memory. The test measures speed and accuracy skills of naming colors and colored words, to determine the effects of aging on the brain which is thought to be a cause of source amnesia.[30]
Procedure
The participant is asked to read a series of related word-reading and color-naming trials. In the first component of the task, known as the word-reading condition of the task, the participant is asked to read as quickly as possible a series of color names printed either in white or other various colors. The participant is then asked to name the color of a series of colored blocks.[30]
In the second component of the task or the color word-naming condition, the participant is instructed to name the color of a sequence of words presented in another color (e.g.: the word is "red" but the color of the word is printed in green, the participant must name the color of the ink, not the actual word).[30]
Results
In healthy patients, the condition of naming the color, is slower than the first task of just reading the word. Patients with prefrontal damage (source amnesia) will name the color and ignore the word, even as the rules change and they are told to name just the word, the color continues to be named on following trials.
Relating back to age, the findings of this study concluded that aging begins to affect one's ability to successfully finish the Stroop test in the 6th and 7th decade of life. This branch of cognitive aging has been found to mainly affect the prefrontal lobes. The Stroop Color-Naming Task measures the degree to which one is suffering from source amnesia. The severity of the damage to the prefrontal lobes directly correlates to the speed of which an individual can complete the Stroop Color-Naming Task. The more damage one has endured to this part of the brain, the slower they will complete the task.[30]
### Old-New Recognition Test[edit]
Decisions made in the context of this test will be based more on familiarity than deep inspection of the contents of memories.
People with source amnesia during this test feel 'phantom' feelings of familiarity towards words that are semantically related (e.g.: candy, sugar, sweet) and will more often claim to have seen a word that was not presented during the experiment.[31]
Procedure
Showing the participant a list of words and assessing at different time intervals to see if the participant remembers which words were presented and which were not. For example, a list of 15 words could be given to a participant to study from. The experimenter will then test the participant's knowledge of the list 20 minutes later by presenting the list of studied words mixed in randomly with several 'lure' words (words that are semantically similar to the previously studied words but not the same) and new words.
If the participant is successful in this task, they have distinguished between the previously learned words and the lure words.
This experiment can be tested multiple times with the same participant over different time periods (e.g.: 3 months later then tested again 6 months later).[32]
Results
Participants are more likely to show source amnesia with the 'lure' words but not with the newly presented words. This means that they confuse the familiarity of the semantically similar words with words that they studied in the original list.[31]
## Prevention[edit]
Research suggests that source amnesia results from poor memory encoding of a particular context opposed to poor retrieval of a context specific memory, except within the case of amnesiacs.[33] This is because content must be encoded along with context in order for the two to be integrated into memory.[33] Since poor encoding may be responsible for source amnesia, it is not likely that a person will be able to retrieve a specific source memory in the future if it was not properly encoded. This makes it difficult to create treatments for source amnesia because the information may not be integrated properly within the brain. Certain prevention strategies have been studied in order to target at-risk populations and teach them how to prevent the loss of contextual memory as well as how to improve source memory in the general population.
### General population[edit]
While source amnesia appears to be the most prevalent in populations with specific brain impairments, it is possible for individuals without deficits in memory to experience source amnesia. This may happen if a person only encodes content and does not integrate the context-specific information into memory.[33] Research suggests that context-specific information is better recalled in situations that involve emotional stimuli or words.[34] This suggests that source memory may benefit from thinking about emotions related to the content in order to better encode source related information. This is related to theories on flashbulb memory.
### Children[edit]
Children are more likely to correctly identify source information if they have been taught to think about the relation between the speaker and the information being shared.[35] This holds true whether the children think about perceptual or emotional ties to the speaker but the effect appears larger when emotional context is considered. The increase in accurate source encoding is not without a cost as it was demonstrated that children who improved their source encoding typically remembered less than controls when it came to recalling semantic or non-source information.[35] This suggests that there may be a trade-off when it comes to different types of memory in children because they are only able to attend to a certain amount of information at one time.
### Older adults[edit]
Older adults may suffer memory impairments as a result of the natural aging process. These memory impairments may be due to degeneration of the frontal lobe and other age related changes.[28] It is very common for older adults to experience increased source amnesia for memories compared to younger adults. Prevention of source amnesia in older adults may include memory training programs in an attempt to increase cortical thickness in the brain. Research suggests that even the brains of older adults may be capable of continuing plasticity.[36] In one particular study, older adults were exposed to 8-week long memory training programs. These memory-training programs involved serial memory recall practice using mental imagery as a mnemonic device. Adults involved in the memory-training program showed significant improvement in their source memory specifically. In addition to the memory benefits, increased cortical thickness was shown using MRI scans.[36] While this research has not been tested in a longitudinal study, it suggests that older adults and perhaps other at-risk groups for source amnesia could benefit from explicit memory training exercises.
Another way in which older adults can avoid source amnesia is to think about the relationship between the content and context of an experience or memory.[33] This preventative measure must be taken when information is being encoded in order to direct attention to the source and to be aware of how it relates to the content. Participants experiencing source amnesia performed at the same level of groups not at risk of source amnesia when these strategies were implicated suggesting that those who do not experience this memory deficit may integrate content and context implicitly.[33]
## Implications in eyewitness testimony[edit]
Eyewitness testimonies are an integral aspect in the criminal court system as judges and juries depend on them as evidence to determine a verdict. However, studies have shown that source amnesia can interfere with a witness's memory because any incorrect post-event information encountered, results in distorted memories and source confusion.[37] Post-event information can come from leading questions, statements made by the media or co-witnesses.[37] Since improper encoding causes source amnesia, witnesses who are stressed or distracted during the event and fail to pay attention are susceptible to encoding wrong details into their memory, claiming to have seen things they only imagined.[38][39] This causes grave legal implications given that it can result in wrongful convictions; therefore, it is important that interrogation practices are carefully carried out.[37]
## Related phenomena[edit]
### Post-hypnotic amnesia[edit]
Post-hypnotic source amnesia is the phenomenon where an individual is taught obscure information while under hypnosis and then asked to recall this information during their conscious state, however, they do not remember how or when that knowledge was taught to them.[27] Studies have shown that subjects are unable to remember anything that occurred during hypnosis and when asked how they acquired the knowledge to answer the questions, they tended to rationalize their incapability to indicate how they learned it. This phenomenon is similar to flashbulb memories or tip-of-the-tongue.[27]
### Misattributed familiarity[edit]
Misattributed familiarity is the failure to recall the correct source of where the information came from and instead, the individual attributes the knowledge to an incorrect source. This results from an error in the decision-making process that confuses the origin of the information.[39]
### Cryptomnesia[edit]
Cryptomnesia occurs when an individual is certain that a certain word, idea, song, etc. is their own original thought when in actuality it was retrieved from memory without their knowledge, resulting in accidental plagiarism. In order to prevent this, source monitoring is required to avoid attributing the thought as one's own.[40] However, this slows down the quick retrieval of memory needed in daily life, such as in conversation. This has seen to occur in the music industry and has the implication of copyright infringement over songs, as well as in the formation of scientific research ideas.[41]
## See also[edit]
* Context-dependent memory
* Memory distrust syndrome
* Sleeper effect
## References[edit]
1. ^ a b Schacter, D.L., Harbluk, J.L., and McLachlen, D.R. (1984). "Retrieval without recollection: an experimental analysis of source amnesia". Journal of Verbal Learning and Verbal Behavior. 23 (5): 593–611. doi:10.1016/S0022-5371(84)90373-6.CS1 maint: uses authors parameter (link)
2. ^ Tulving, E. (1972). Episodic and semantic memory. In E. Tulving and W. Donaldson (Eds.), Organization of Memory (pp. 381–403). New York: Academic Press.
3. ^ a b c d e Mitchell K.J., Johnson M.K. (2000). "Source monitoring: Attributing mental experiences" (PDF). The Oxford Handbook of Memory. 12: 179–195.
4. ^ Shimamura, A.P. and Squire, L.R. (1987). "A neuropsychological study of fact memory and source amnesia". Journal of Experimental Psychology. 13 (3): 464–473. CiteSeerX 10.1.1.422.984. doi:10.1037/0278-7393.13.3.464. PMID 2956356.CS1 maint: uses authors parameter (link)
5. ^ Harlow, J.M. (1868). "Recovery from the passage of an iron bar through the head". Publications of the Massachusetts Medical Society. 2: 327–347.CS1 maint: uses authors parameter (link)
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7. ^ a b c Janowsky, J.S., Shimamura, A.P. and Squire, L.R. (1989). "Source memory impairment in patients with frontal lobe lesions". Neuropsychologia. 27 (8): 1043–1056. doi:10.1016/0028-3932(89)90184-X. PMID 2797412.CS1 maint: uses authors parameter (link)
8. ^ a b c Shimamura, A.P., Janowsky, J.S. and Squire, L.R. (1988). "Memory for temporal order in patients with frontal lobe lesions and patients with amnesia". Society for Neuroscience. 14: 1043.CS1 maint: uses authors parameter (link)
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16. ^ a b Harvey, P.D. (1985). "Reality monitoring in mania and schizophrenia: the association of thought disorder and performance". The Journal of Nervous and Mental Disease. 173 (2): 67–73. doi:10.1097/00005053-198502000-00001. PMID 3968548.CS1 maint: uses authors parameter (link)
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21. ^ Bremner, J.D., Krystal, J.H., Southwick, S.M. and Charney, D.S. (1995). "Functional neuroanatomical correlates of the effects of stress on memory". Journal of Traumatic Stress. 8 (4): 527–553. doi:10.1007/BF02102888. PMID 8564272.CS1 maint: uses authors parameter (link)
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23. ^ Fichtenholtz, H., Qin, J. J., Mitchell, K. J., Johnson, D. C., Southwick, S. M., Johnson, M. K., et al. (2008, May). PTSD patients' memory for neutral pictures in blocked and intermixed lists. Paper presented at the annual meeting of the Association for Psychological Science, Chicago.
24. ^ Williams, J. M. G., Barnhofer, T., Crane, C., Hermans, D., Raes, F., Watkins, E., and Dalgleish, T. (2007). "Autobiographical memory specificity and emotional disorder". Psychological Bulletin. 133 (1): 122–148. doi:10.1037/0033-2909.133.1.122. PMC 2834574. PMID 17201573.CS1 maint: uses authors parameter (link)
25. ^ Siegle, G.J., Thompson, W., Carter, C.S., Steinhauer, S.R. and Thase, M.E. (2007). "Increased amygdala and decreased dorsolateral prefrontal BOLD responses in unipolar depression: Related and independent features". Biological Psychiatry. 61 (2): 198–209. doi:10.1016/j.biopsych.2006.05.048. PMID 17027931.CS1 maint: uses authors parameter (link)
26. ^ Mather, M., Mitchell, K. J., Raye, C. L., Novak, D. L., Greene, E. J. and Johnson, M. K. (2006). "Emotional arousal can impair feature binding in working memory". Journal of Cognitive Neuroscience. 18 (4): 614–625. CiteSeerX 10.1.1.418.2750. doi:10.1162/jocn.2006.18.4.614. PMID 16768364.CS1 maint: uses authors parameter (link)
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28. ^ a b c d Craik, I.M.F., Morris, L.W., Morris, R.G. and Loewen, E.R. (1990). "Relations between source amnesia and frontal lobe functioning in older adults". Psychology and Aging. 5 (1): 148–151. doi:10.1037/0882-7974.5.1.148. PMID 2317296.CS1 maint: uses authors parameter (link)
29. ^ Stuss, D.T. and Benson, D.F. (1984). "Neuropsychological studies of the frontal lobes". Psychological Bulletin. 95 (1): 3–28. doi:10.1037/0033-2909.95.1.3. PMID 6544432.CS1 maint: uses authors parameter (link)
30. ^ a b c d West, R. (1996). "An application of prefrontal cortex function theory to cognitive aging theory". Psychological Bulletin. 120 (2): 272–292. doi:10.1037/0033-2909.120.2.272. PMID 8831298.
31. ^ a b Hicks, J.L., Marsh, R. (2001). "False recognition occurs more frequently during source identification". Journal of Experimental Psychology: Learning, Memory, and Cognition. 27 (2): 375–383. CiteSeerX 10.1.1.598.7606. doi:10.1037/0278-7393.27.2.375. PMID 11294439.CS1 maint: uses authors parameter (link)
32. ^ Yonelinas, A., Kroll, N., Sauve, M., Widaman, K., Quamme, J., Lazzara, M. and Knight, R. (2002). "Effects of extensive temporal lobe damage or mild hypoxia on recollection and familiarity". Nature Neuroscience. 5 (11): 1236–1241. doi:10.1038/nn961. PMID 12379865.CS1 maint: uses authors parameter (link)
33. ^ a b c d e Glisky, E. L., Rubin, S. R. & Davidson, P. S. R. (2001). "Source Memory in Older Adults: An Encoding or Retrieval Problem?" (PDF). Journal of Experimental Psychology. 27 (5): 1131–1146. CiteSeerX 10.1.1.603.5751. doi:10.1037/0278-7393.27.5.1131. PMID 11550742.CS1 maint: uses authors parameter (link)
34. ^ Doerkson, S. & Shimamura, A. P. (2001). "Source Memory Enhancement for Emotional Words". Emotion. 1 (1): 5–11. doi:10.1037/1528-3542.1.1.5. PMID 12894807.CS1 maint: uses authors parameter (link)
35. ^ a b Crawley, S. L., Newcombe, N. S. & Bingman, H. (2010). "How Focus at Encoding affects Children's Source Monitoring". Journal of Experimental Child Psychology. 105 (4): 273–285. doi:10.1016/j.jecp.2009.12.003. PMID 20096857.CS1 maint: uses authors parameter (link)
36. ^ a b Engvig, A.; Fjell, A. M.; Westlye, L. T.; Moberjet, T.; Sundseth, O.; Larson, V. A.; Walhovd, K. B. (2010). "Effects of memory training on cortical thickness in the elderly". NeuroImage. 52 (4): 1667–1676. doi:10.1016/j.neuroimage.2010.05.041. hdl:10852/34931. PMID 20580844.
37. ^ a b c Van Bergen, S., Horselenberg, R., Merckelbach, H., Jelicic, M., & Beckers, R. (2010). "Memory distrust and acceptance of misinformation". Applied Cognitive Psychology. 24 (6): 855–896. doi:10.1002/acp.1595.CS1 maint: uses authors parameter (link)
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|
Source amnesia
|
None
| 26,336 |
wikipedia
|
https://en.wikipedia.org/wiki/Source_amnesia
| 2021-01-18T18:28:55 |
{"wikidata": ["Q3614488"]}
|
Maroteaux et al. (1996) described a phenotype with similarities to Kniest dysplasia (156550) and to dyssegmental dysplasia (224400, 224410) with severe glaucoma. They reported on 2 unrelated children with severe micromelia, contractures of the elbow and hip, dolichocephaly with a large anterior fontanel, malar hypoplasia, and cleft palate. Radiographic features revealed short, broad long bones with flared metaphyses, detailed epiphyseal ossification, and flat vertebral bodies. Severe glaucoma with exophthalmia was observed in both patients. The COL2A1 gene of 1 patient was studied by the SSCP method but no mutation was detected.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature HEAD & NECK Head \- Dolichocephaly \- Large anterior fontanel Face \- Malar hypoplasia Eyes \- Glaucoma, severe \- Exophthalmia Mouth \- Cleft palate SKELETAL Spine \- Flat vertebral bodies Pelvis \- Hip contractures Limbs \- Micromelia, severe \- Elbow contractures \- Short, broad long bones with flared metaphyses \- Detailed epiphyseal ossification ▲ Close
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*[c.]: circa
*[AA]: Adrenergic agonist
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*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA
|
c1832111
| 26,337 |
omim
|
https://www.omim.org/entry/601561
| 2019-09-22T16:14:36 |
{"mesh": ["C563290"], "omim": ["601561"], "orphanet": ["1804"]}
|
A number sign (#) is used with this entry because of evidence that multiple types of cataract (CTRCT20) are caused by heterozygous mutation in the CRYGS gene (123730) on chromosome 3q27.
Description
Mutation in the CRYGS gene has been identified in multiple types of cataract, which have been described as progressive polymorphic anterior, posterior, peripheral cortical, sutural, and lamellar.
Clinical Features
Sun et al. (2005) described a 6-generation Chinese family segregating progressive polymorphic cortical cataract. The phenotype was characterized by progressive opacities in the cortex of the lens with a ground-glass appearance at an early age. The cataract was progressive, and cataractous changes were prominent in affected older individuals, whose vision began to deteriorate between the ages of 8 and 15 years. The position, size, and density of the opacities were variable among the 14 affected members of the family. The opacities could be located in the anterior, posterior, or peripheral cortex, but no opacity was observed in the fetal nuclear region.
Devi et al. (2008) reported a family (CCW47) from southern India in which 4 members over 2 generations had progressive sutural and lamellar cataracts with onset between 7 and 10 years of age. Variation in the size, density, and position of the cataracts varied among family members and from one eye to the other in the same patient.
Vanita et al. (2009) reported a 3-generation family from northern India in which 7 members had bilateral congenital cataract visible in early childhood. The 3-year-old proband had an opalescent cataract with the central nuclear region denser than the periphery. All other affected family members had already had cataract surgery in their first decade of life.
Inheritance
The transmission pattern of progressive polymorphic cortical cataract in the Chinese family described by Sun et al. (2005) was consistent with autosomal dominant inheritance.
Mapping
In a 6-generation Chinese family segregating progressive polymorphic cortical cataract, Sun et al. (2005) excluded loci loci for known cataract candidate genes using fluorescent microsatellite markers. They then performed a whole-genome scan, which revealed linkage of the disorder to a 20.7-cM locus on chromosome 3q26.3-qter, with a maximum lod score of 6.34 (theta = 0.0) at marker D3S1602. Haplotype analysis narrowed the critical region to an interval on chromosome 3q27.3 containing the CRYGS gene.
Molecular Genetics
In affected members of a 6-generation Chinese family with progressive polymorphic cortical cataract, Sun et al. (2005) identified a heterozygous missense mutation in the CRYGS gene (G18V; 123730.0001).
In affected members with variable forms of progressive cataract from a family (CCW47) from southern India, Devi et al. (2008) identified a heterozygous missense mutation in the CRYGS gene (S39C; 123730.0002). The mutation, which segregated with the phenotype in the family, was not found in 100 ethnically-matched control individuals.
In affected members of a 3-generation family from northern India with bilateral congenital cataract, Vanita et al. (2009) identified a heterozygous missense mutation in the CRYGS gene (V42M; 123730.0003). The mutation segregated with the phenotype in the family and was not found in 100 ethnically-matched control individuals.
Eyes \- Membranous cataract 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
CATARACT 20, MULTIPLE TYPES
|
c1854021
| 26,338 |
omim
|
https://www.omim.org/entry/116100
| 2019-09-22T16:43:38 |
{"doid": ["0110240"], "mesh": ["C565301"], "omim": ["116100"], "icd-10": ["Q12.0"], "orphanet": ["441452", "91492", "98985"], "synonyms": []}
|
A number sign (#) is used with this entry because of evidence that lethal infantile mitochondrial myopathy may be caused by mutation in the MTTT gene (590090).
Molecular Genetics
Yoon et al. (1991) attributed certain cases of lethal infantile mitochondrial myopathy (LIMM) to mutations in the mtDNA threonine tRNA gene (MTTT). The 2 patients in their study had severe respiratory chain enzyme deficiency and associated lactic acidosis and died within days after birth. Mutation was detected at nucleotide pair (np) 15924 in one patient and at nucleotide pair 15923 in the other. Both mutations occurred within the tRNA anticodon stem-loop structure. However, Brown et al. (1992) screened 3 LIMM and multiple control subjects for these mutations and reported that the nucleotide pair 15924 A-to-G mutation found in one of the patients was not the primary cause of LIMM. This Caucasian male died at 4 months of age of severe lactic acidosis with heart and muscle mitochondrial defects (Zheng et al., 1989). His mother had the same mutation, and both were homoplasmic. However, the mother showed no evidence of disease even after extensive biochemical, histologic, and clinical analyses. Furthermore, Brown et al. (1992) found the nucleotide pair 15924 mutation in approximately 11% (11/103) of Caucasian controls. The nucleotide pair 15923 mutation was not detected in 91 Caucasians, 35 Africans, and 57 Asians. Consequently, the role of this mutation in causing LIMM remained to be clarified.
INHERITANCE \- Mitochondrial CARDIOVASCULAR Heart \- Cardiomyopathy, mitochondrial METABOLIC FEATURES \- Lactic acidosis LABORATORY ABNORMALITIES \- Mutant mtDNA threonine transfer RNA gene (MTTT, 590090 ) of questionable etiology \- Variable respiratory chain enzyme deficiency MISCELLANEOUS \- Described in 3 unrelated infants (last curated January 2013) \- Death in early infancy ▲ 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE
|
c1838876
| 26,339 |
omim
|
https://www.omim.org/entry/551000
| 2019-09-22T16:16:47 |
{"mesh": ["C564017"], "omim": ["551000"], "orphanet": ["254857"], "genereviews": ["NBK1224"]}
|
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (April 2016)
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
Other namesDIPNECH
SpecialtyRespirology
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a diffuse parenchymal lung disease which often presents with symptoms of cough and shortness of breath. The pathological definition published by the World Health Organization is “a generalized proliferation of scattered single cells, small nodules (neuroendocrine bodies), or linear proliferations of pulmonary neuroendocrine (PNE) cells that may be confined to the bronchial and bronchiolar epithelium.”[1] The true prevalence of this disease is not known. To date, just under 200 cases have been reported in the literature.[2] However, with an increase in recognition of this disease by radiologists and pulmonologists, the number of cases has been increasing. DIPNECH predominantly affects middle-aged women[3] with slowly progressive lung obstruction. DIPNECH is usually discovered in one of two ways: 1) as an unexpected finding following a lung surgery; or 2) by evaluation of a patient in a pulmonary clinic with longstanding, unexplained symptoms.[4]
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 2.1 Pathology
* 2.2 Imaging
* 2.3 Pulmonary function studies
* 3 Treatment
* 4 Prognosis
* 5 References
## Signs and symptoms[edit]
About 20% of DIPNECH patients are symptom free at the time they first present. The most common symptoms include:[5][6][7]
* Chronic cough
* Shortness of breath or dyspnea when exercising or exerting one's self
* Wheezing (less frequent)
* Hemoptysis (Infrequent)
Symptoms may be present for many years prior to diagnosis and are often ascribed to other lung conditions. Erroneous initial diagnoses of asthma or chronic obstructive pulmonary disease often are made in patients with DIPNECH.[8]
## Diagnosis[edit]
The major criterion for diagnosis is typically a confirmed surgical biopsy. Minor diagnostic criteria have been proposed for DIPNECH.[8]
* Clinical presentation: woman, between the age of 45 and 67 with cough and/or shortness of breath for 5–10 years
* Pulmonary function: increased residual volume, increased total lung capacity, fixed obstruction, low diffusing capacity of the lung for carbon monoxide that corrects with alveolar volume
* High-resolution CT scan: diffuse pulmonary nodules 4–10 mm, greater than 20 nodules, mosaic attenuation or air trapping in greater than 50% of the lung
* Transbronchial biopsy: proliferation of pulmonary neuroendocrine cells
* Serum markers: elevated serum chromogranin A levels
### Pathology[edit]
In most DIPNECH cases, upon examination of the lung tissue, the overgrowth of pulmonary neuroendocrine cells is seen along the small airways, with extension through the basement membrane of the bronchiolar epithelium leading to formation of carcinoid tumorlets. When the tumorlets become greater than 5mm in size they are considered bronchial carcinoids. Upon microscopic examination, the PNE cells have round, oval, or spindle nuclei with salt-and-pepper chromatin and clear or eosinophilic cytoplasm.[1]
Although no formal definition exists regarding the extent of PNE hyperplasia necessary for a DIPNECH diagnosis, this process is often seen throughout the small airways. Because the hyperplasia of PNE cells can be seen as a reaction to chronic lung disease, surrounding solitary bronchial carcinoids and adenocarcinoma of the lung, these causes must be excluded prior to a DIPENCH diagnosis.[1]
Obstructive bronchiolitis has been reported as a characteristic histopathologic finding in patients with DIPNECH.[8] The bronchiolitis is thought to be a response of the small airways to neuropeptides secreted by the PNE cells.[citation needed]
### Imaging[edit]
The findings on chest imaging in DIPNECH patients are bilateral and diffuse. The most frequent findings on a computed tomography (CT) of the chest are multiple primary nodules and/or masses, on a background of mosaic attenuation and airway wall thickening.[2][9]
The nodules have an indolent pattern of growth and are found throughout the lungs. The nodules are typically rounded and well-defined. Upon surgical resection, histologically the nodules are found to be typical carcinoids or carcinoid tumorlets depending on size.[citation needed]
### Pulmonary function studies[edit]
Although some patients present with normal lung function, pulmonary function tests generally demonstrate fixed airway obstruction with a decreased FEV1 and reduced FEV1/FVC ratio without bronchodilator response. Air trapping is common and leads to increased residual volumes. As the disease progresses, a mixed pattern of obstruction and restriction may develop. In general the obstructive lung disease is slowly progressive with periods of stability.[8]
## Treatment[edit]
To date there have been no clinical trials to determine effective treatment for this disease. Some patients have been treated with somatostatin analogs. Although the cough associated with DIPNECH tends to diminish on this treatment, improvement in pulmonary function has not been clearly demonstrated.[2][8] There are also reports of symptomatic treatment with long- and short-acting beta agonists. Although steroids, both oral and inhaled, have been used in the setting of DIPNECH, there is no clear improvement with this treatment.[citation needed]
It is not uncommon for typical carcinoids to arise within DIPNECH. Due to presence of these tumors, DIPNECH is classified as a pre-malignant condition.[1] Although there have been reports of atypical carcinoids with local lymph node involvement, there are no reports of more aggressive neuroendocrine tumors, such as large cell neuroendocrine or small cell lung cancer, associated with DIPNECH.[3] When isolated bronchial carcinoids are diagnosed, oncology guidelines recommend surgical resection with lymph node sampling.[10] However, as multiple carcinoids may develop in the setting of DIPNECH, a more conservative approach is often considered to preserve lung function.[citation needed]
## Prognosis[edit]
The morbidity associated with DIPNECH is due to the associated obstructive lung disease. The lung disease tends to be slowly progressive, but given enough time can lead to significant disability and require supplemental oxygen therapy.[8] There have been reports of lung transplantation in the setting of end-stage DIPNECH.[11]
## References[edit]
1. ^ a b c d Travis, WD (2004). World Health Organization Classification of Tumors. Pathology and Genetics of Tumours of the Lung, Pleura, Thymus and Heart. Lyon, France: IARC Press.
2. ^ a b c Wirstschafter, E; Walts, A; Marchevsky, A (2012). "Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia of the lung (DIPNECH): current best evidence". Lung. 193 (5): 659–67. doi:10.1007/s00408-015-9755-1. PMID 26104490. S2CID 24748273.
3. ^ a b Gorshtein, A; Gross, DJ; Barak, D; Strenov, Y; Refaeli, Y; Shimon, I; Grozinsky-Glasberg, S (2012). "Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia and the associated lung neuroendocrine tumors: clinical experience with a rare entity". Cancer. 118 (3): 612–619. doi:10.1002/cncr.26200. PMID 21751183. S2CID 12126499.
4. ^ Davies, SJ; Gosney, JR; Hansell, DM; Wells, AU; du Bois, RM; Burke, MM; Sheppard, MN; Nicholson, AG (2007). "Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia: an under-recognized spectrum of disease". Thorax. 62 (3): 248–252. doi:10.1136/thx.2006.063065. PMC 2117154. PMID 17099078.
5. ^ Adams, H; Brack, T; Kestenholz, P; Vogt, P; Steinert, HC; Russi, EW (2006). "Diffuse idiopathic neuroendocrine cell hyperplasia causing severe airway obstruction in a patient with a carcinoid tumor". Respiration. 73 (5): 690–693. doi:10.1159/000088007. PMID 16131792. S2CID 10819978.
6. ^ Armas, OA; White, DA; Erlandson, RA; Rosai, J (1995). "Diffuse idiopathic pulmonary neuroendocrine cell proliferation presenting as interstitial lung disease". Am J Surg Pathol. 19 (8): 963–970. doi:10.1097/00000478-199508000-00013. PMID 7611544.
7. ^ Aubry, MC; Thomas, CF Jr; Jett, JR; Swensen, SJ; Myers, JL (2007). "Significance of multiple carcinoid tumors and tumorlets in surgical lung specimens: analysis of 28 patients". Chest. 131 (6): 1635–1643. doi:10.1378/chest.06-2788. PMID 17400673.
8. ^ a b c d e f Carr, LL; Chung, JH; Duarte Achcar, R; Lesic, Z; Rho, JY; Yagihashi, K; Tate, RM; Swigris, JJ; Kern, JA (2015). "The clinical course of diffuse idiopathic pulmonary neuroendocrine cell hyperplasia". Chest. 147 (2): 415–422. doi:10.1378/chest.14-0711. PMID 25275948.
9. ^ Lee, JS; Brown, KK; Cool, C (2002). "Diffuse pulmonary neuroendocrine cell hyperplasia: radiologic and clinical features". J Comput Assist Tomogr. 26 (2): 180–184. doi:10.1097/00004728-200203000-00003. PMID 11884770. S2CID 24495240.
10. ^ National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: Small Cell Lung Cancer Version 2.2014.
11. ^ Sheerin, N; Harrison, NK; Sheppard, MN; Hansell, DM; Yacoub, M; Clark, TJ (1995). "Obliterative bronchiolitis caused by multiple tumorlets and microcarcinoids successfully treated by single lung transplantation". Thorax. 50 (2): 207–209. doi:10.1136/thx.50.2.207. PMC 473927. PMID 7701466.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
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*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
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Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
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c1333291
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wikipedia
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https://en.wikipedia.org/wiki/Diffuse_idiopathic_pulmonary_neuroendocrine_cell_hyperplasia
| 2021-01-18T18:52:53 |
{"gard": ["10780"], "umls": ["C1333291"], "wikidata": ["Q3801527"]}
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"Mad cow" redirects here. For other uses, see Mad cow (disambiguation).
Counterpart to variant Creutzfeldt-Jakob disease in cows
The examples and perspective in this article deal primarily with the United Kingdom and do not represent a worldwide view of the subject. You may improve this article, discuss the issue on the talk page, or create a new article, as appropriate. (July 2020) (Learn how and when to remove this template message)
Bovine spongiform encephalopathy
Other namesMad cow disease
A cow with BSE
SpecialtyNeurology,Veterinary medicine
SymptomsAbnormal behavior, trouble walking, weight loss, unable to move[1]
Complicationsvariant Creutzfeldt-Jakob disease (if BSE-infected beef is eaten by humans)
Usual onset4–5 years after exposure[2]
TypesClassic, atypical[1]
CausesA type of prion[3]
Risk factorsFeeding contaminated meat and bone meal to cattle
Diagnostic methodSuspected based on symptoms, confirmed by examination of the brain[1]
PreventionNot allowing older animals to enter the food supply, disallowing certain products in animal food[4]
TreatmentNone
PrognosisDeath within weeks to months[2]
Frequency4 cases (2017)[1]
Bovine spongiform encephalopathy (BSE), commonly known as mad cow disease, is a neurodegenerative disease of cattle.[2] Symptoms include abnormal behavior, trouble walking, and weight loss.[1] Later in the course of the disease the cow becomes unable to function normally.[1] The time between infection and onset of symptoms is generally four to five years.[2] Time from onset of symptoms to death is generally weeks to months.[2] Spread to humans is believed to result in variant Creutzfeldt–Jakob disease (vCJD).[3] As of 2018, a total of 231 cases of vCJD had been reported globally.[5]
BSE is thought to be due to an infection by a misfolded protein, known as a prion.[3][6] Cattle are believed to have been infected by being fed meat-and-bone meal (MBM) that contained either the remains of cattle who spontaneously developed the disease or scrapie-infected sheep products.[3][7] The outbreak increased throughout the United Kingdom due to the practice of feeding meat-and-bone meal to young calves of dairy cows.[3][8] Cases are suspected based on symptoms and confirmed by examination of the brain.[1] Cases are classified as classic or atypical, with the latter divided into H- and L types.[1] It is a type of transmissible spongiform encephalopathy (TSE).[9]
Efforts to prevent the disease in the UK include not allowing any animal older than 30 months to enter either the human food or animal feed supply.[4] In continental Europe, cattle over 30 months must be tested if they are intended for human food.[4] In North America, tissue of concern, known as specified risk material, may not be added to animal feed or pet food.[10] About four million cows were killed during the eradication programme in the UK.[11]
Four cases were reported globally in 2017, and the condition is considered to be nearly eradicated.[1] In the United Kingdom, from 1986 to 2015, more than 184,000 cattle were diagnosed with the peak of new cases occurring in 1993.[3] A few thousand additional cases have been reported in other regions of the world.[1] It is believed that several million cattle with the condition likely entered the food supply during the outbreak.[1]
## Contents
* 1 Signs
* 2 Cause
* 2.1 Spread to humans
* 3 Pathogenesis
* 4 Diagnosis
* 4.1 Classification
* 5 Prevention
* 6 Epidemiology
* 6.1 North America
* 6.1.1 United States
* 6.1.2 Effect on the US beef industry
* 6.2 Japan
* 6.3 Europe
* 6.3.1 The ban on British beef
* 7 History
* 8 References
* 9 External links
## Signs[edit]
This cow with BSE displays abnormal posturing and weight loss.
Signs are not seen immediately in cattle, due to the disease's extremely long incubation period.[12] Some cattle have been observed to have an abnormal gait, changes in behavior, tremors and hyper-responsiveness to certain stimuli.[13] Hindlimb ataxia affects the animal's gait and occurs when muscle control is lost. This results in poor balance and coordination.[14] Behavioural changes may include aggression, anxiety relating to certain situations, nervousness, frenzy and an overall change in temperament. Some rare but previously observed signs also include persistent pacing, rubbing and licking. Additionally, nonspecific signs have also been observed which include weight loss, decreased milk production, lameness, ear infections and teeth grinding due to pain. Some animals may show a combination of these signs, while others may only be observed demonstrating one of the many reported. Once clinical signs arise, they typically get worse over the subsequent weeks and months, eventually leading to recumbency, coma and death.[13]
## Cause[edit]
BSE is an infectious disease believed to be due to a misfolded protein,[which?] known as a prion.[3][6] Cattle are believed to have been infected from being fed meat and bone meal (MBM) that contained the remains of other cattle who spontaneously developed the disease or scrapie-infected sheep products.[3] The outbreak increased throughout the United Kingdom due to the practice of feeding meat-and-bone meal to young calves of dairy cows.[3][8]
Prions replicate by causing other normally folded proteins of the same type to take on their misfolded shape, which then go on to do the same, leading to an exponential chain reaction. Eventually, the prions aggregate into an alpha helical, beta pleated sheet, which is thought to be toxic to brain cells.[citation needed]
The agent is not destroyed even if the beef or material containing it is cooked or heat-treated.[15] Transmission can occur when healthy animals come in contact with tainted tissues from others with the disease. In the brain, the agent causes native cellular prion protein to deform into the misfolded state, which then goes on to deform further prion protein in an exponential cascade. This results in protein aggregates, which then form dense plaque fibers. Brain cells begin to die off in massive numbers, eventually leading to the microscopic appearance of "holes" in the brain, degeneration of physical and mental abilities, and ultimately death.[citation needed]
The British Government enquiry took the view that the cause was not scrapie, as had originally been postulated, but was some event in the 1970s that could not be identified.[16]
### Spread to humans[edit]
Spread to humans is believed to result in variant Creutzfeldt–Jakob disease (vCJD).[3] The agent can be transmitted to humans by eating food contaminated with it.[17] Though any tissue may be involved, the highest risk to humans is believed to be from eating food contaminated with the brain, spinal cord, or digestive tract.[18][19]
## Pathogenesis[edit]
The pathogenesis of BSE is not well understood or documented like other diseases of this nature. Even though BSE is a disease that results in neurological defects, its pathogenesis occurs in areas that reside outside of the nervous system.[20] There was a strong deposition of PrPSc initially located in the ileal Peyer's patches of the small intestine.[21] The lymphatic system has been identified in the pathogenesis of scrapie. It has not, however, been determined to be an essential part of the pathogenesis of BSE. The Ileal Peyer's patches have been the only organ from this system that has been found to play a major role in the pathogenesis.[20] Infectivity of the Ileal Peyer's patches has been observed as early as 4 months after inoculation.[21] PrPSc accumulation was found to occur mostly in tangible body macrophages of the Ileal Peyer's patches. Tangible body macrophages involved in PrPSc clearance are thought to play a role in PrPSc accumulation in the Peyer's patches. Accumulation of PrPSc was also found in follicular dendritic cells; however, it was of a lesser degree.[22] Six months after inoculation, there was no infectivity in any tissues, only that of the ileum. This led researchers to believe that the disease agent replicates here. In naturally confirmed cases, there have been no reports of infectivity in the Ileal Peyer's patches. Generally, in clinical experiments, high doses of the disease are administered. In natural cases, it was hypothesized that low doses of the agent were present, and therefore, infectivity could not be observed.[23]
## Diagnosis[edit]
Brain tissue of a cow with BSE showing the typical microscopic "holes" in the grey matter
Diagnosis of BSE continues to be a practical problem. It has an incubation period of months to years, during which no signs are noticed, though the pathway of converting the normal brain prion protein (PrP) into the toxic, disease-related PrPSc form has started. At present, virtually no way is known to detect PrPSc reliably except by examining post mortem brain tissue using neuropathological and immunohistochemical methods. Accumulation of the abnormally folded PrPSc form of PrP is a characteristic of the disease, but it is present at very low levels in easily accessible body fluids such as blood or urine. Researchers have tried to develop methods to measure PrPSc, but no methods for use in materials such as blood have been accepted fully.[by whom?]
The traditional method of diagnosis relies on histopathological examination of the medulla oblongata of the brain, and other tissues, post mortem. Immunohistochemistry can be used to demonstrate prion protein accumulation.[24]
In 2010, a team from New York described detection of PrPSc even when initially present at only one part in a hundred billion (10−11) in brain tissue. The method combines amplification with a novel technology called surround optical fiber immunoassay and some specific antibodies against PrPSc. After amplifying and then concentrating any PrPSc, the samples are labelled with a fluorescent dye using an antibody for specificity and then finally loaded into a microcapillary tube. This tube is placed in a specially constructed apparatus so it is totally surrounded by optical fibres to capture all light emitted once the dye is excited using a laser. The technique allowed detection of PrPSc after many fewer cycles of conversion than others have achieved, substantially reducing the possibility of artifacts, as well as speeding up the assay. The researchers also tested their method on blood samples from apparently healthy sheep that went on to develop scrapie. The animals’ brains were analysed once any signs became apparent. The researchers could, therefore, compare results from brain tissue and blood taken once the animals exhibited signs of the diseases, with blood obtained earlier in the animals’ lives, and from uninfected animals. The results showed very clearly that PrPSc could be detected in the blood of animals long before the signs appeared. After further development and testing, this method could be of great value in surveillance as a blood- or urine-based screening test for BSE.[25][26]
### Classification[edit]
BSE is a transmissible disease that primarily affects the central nervous system; it is a form of transmissible spongiform encephalopathy, like Creutzfeldt–Jakob disease and kuru in humans and scrapie in sheep, and chronic wasting disease in deer.[17][27][28]
## Prevention[edit]
A ban on feeding meat and bone meal to cattle has resulted in a strong reduction in cases in countries where the disease has been present. In disease-free countries, control relies on import control, feeding regulations, and surveillance measures.[24]
In UK and US slaughterhouses, the brain, spinal cord, trigeminal ganglia, intestines, eyes, and tonsils from cattle are classified as specified risk materials, and must be disposed of appropriately.[24]
An enhanced BSE-related feed ban was enacted in both the United States (2009) and Canada (2007) to help improve prevention and elimination of BSE.[29]
## Epidemiology[edit]
The tests used for detecting BSE vary considerably, as do the regulations in various jurisdictions for when, and which cattle, must be tested. For instance in the EU, the cattle tested are older (30 months or older), while many cattle are slaughtered younger than that. At the opposite end of the scale, Japan tests all cattle at the time of slaughter. Tests are also difficult, as the altered prion protein has very low levels in blood or urine, and no other signal has been found. Newer tests[specify] are faster, more sensitive, and cheaper, so future figures possibly may be more comprehensive. Even so, currently the only reliable test is examination of tissues during a necropsy.[citation needed]
As for vCJD in humans, autopsy tests are not always done, so those figures, too, are likely to be too low, but probably by a lesser fraction. In the United Kingdom, anyone with possible vCJD symptoms must be reported to the Creutzfeldt–Jakob Disease Surveillance Unit. In the United States, the CDC has refused to impose a national requirement that physicians and hospitals report cases of the disease. Instead, the agency relies on other methods, including death certificates and urging physicians to send suspicious cases to the National Prion Disease Pathology Surveillance Center (NPDPSC) at Case Western Reserve University in Cleveland, which is funded by the CDC.
To control potential transmission of vCJD within the United States, the FDA had established strict restrictions on individuals' eligibility to donate blood. Individuals who had spent a cumulative time of 3 months or more in the United Kingdom between 1980 and 1996, or a cumulative time of 5 years or more from 1980 to 2020 in any combination of countries in Europe, were prohibited from donating blood.[30]
Due to blood shortages associated with the 2020 COVID-19 outbreak, the FDA announced that these restrictions were rescinded effective immediately. They are expected to remain rescinded indefinitely.[31]
### North America[edit]
The first reported case in North America was in December 1993 from Alberta, Canada.[32][33] Another Canadian case was reported in May 2003. The first known U.S. occurrence came in December of the same year, though it was later confirmed to be a cow of Canadian origin imported to the U.S.[34] The cow was slaughtered on a farm near Yakima, Washington. The cow was included in the United States Department of Agriculture's surveillance programme, specifically targeting cattle with BSE.[35] Canada announced two additional cases of BSE from Alberta in early 2005.[36] In June 2005, John R. Clifford, chief veterinary officer for the United States Department of Agriculture animal health inspection service, confirmed a fully domestic case of BSE in Texas.[37]
#### United States[edit]
Soybean meal is cheap and plentiful in the United States, and cottonseed meal (1.5 million tons of which are produced in the U.S. every year, none of which is suitable for humans or any other simple-stomach animals) is even cheaper than soybean meal. Historically, meat and bone meal, blood meal, and meat scraps have almost always commanded a higher price as a feed additive than oilseed meals in the U.S., so not much incentive existed to use animal products to feed ruminants. As a result, the use of animal byproduct feeds was never common, as it was in Europe. However, U.S. regulations only partially prohibited the use of animal byproducts in feed. In 1997, regulations prohibited the feeding of mammalian byproducts to ruminants such as cattle and goats. However, the byproducts of ruminants can still be legally fed to pets or other livestock, including pigs and poultry. In addition, it is legal for ruminants to be fed byproducts from some of these animals.[38] Because of this, some authors have suggested that under certain conditions, it is still possible for BSE incidence to increase in U.S. cattle.[39]
In February 2001, the US Government Accountability Office reported the FDA, which is responsible for regulating feed, had not adequately enforced the various bans. Compliance with the regulations was shown to be extremely poor before the discovery of the cow in Washington infected with BSE in 2003, but industry representatives report that compliance is now total. Even so, critics call the partial prohibitions insufficient. Indeed, US meat producer Creekstone Farms was forcibly prevented from conducting BSE testing by the USDA, which under an obscure 1913 law had the authority to restrict sales of BSE testing kits, allegedly to protect other producers from being forced to conduct the same tests to stay competitive.[40]
The USDA has issued recalls of beef supplies that involved introduction of downer cows into the food supply. Hallmark/Westland Meat Packing Company was found to have used electric shocks to prod downer cows into the slaughtering system in 2007.[41] Possibly due to pressure from large agribusiness, the United States has drastically cut back on the number of cows inspected for BSE.[42]
#### Effect on the US beef industry[edit]
This section needs to be updated. Please update this article to reflect recent events or newly available information. (November 2016)
Japan was the top importer of US beef, buying 240,000 tons valued at $1.4 billion in 2003.[citation needed] After the discovery of the first case of BSE in the US on 23 December 2003, Japan halted US beef imports. In December 2005, Japan once again allowed imports of US beef, but reinstated its ban in January 2006 after a violation of the US-Japan beef import agreement: a vertebral column, which should have been removed prior to shipment, was included in a shipment of veal.[citation needed]
Tokyo yielded to US pressure to resume imports, ignoring consumer worries about the safety of US beef, said Japanese consumer groups. Michiko Kamiyama from Food Safety Citizen Watch and Yoko Tomiyama from Consumers Union of Japan[43] said about this: "The government has put priority on the political schedule between the two countries, not on food safety or human health."
Sixty-five nations implemented full or partial restrictions on importing US beef products because of concerns that US testing lacked sufficient rigor. As a result, exports of US beef declined from 1,300,000 tonnes (t) in 2003, (before the first mad cow was detected in the US) to 322,000 t in 2004. This has increased since then to 771,000 t in 2007 and to 1,300,000 t by 2017.[44][45]
On 31 December 2006, Hematech, Inc, a biotechnology company based in Sioux Falls, South Dakota, announced it had used genetic engineering and cloning technology to produce cattle that lacked a necessary gene for prion production – thus theoretically making them immune to BSE.[46]
In April 2012, some South Korean retailers ceased importing beef from the United States after a case of BSE was reported.[47] Indonesia also suspended imports of beef from the US after a dairy cow with mad cow disease was discovered in California.[48]
### Japan[edit]
With 36 confirmed cases, Japan experienced one of the largest number of cases of BSE outside Europe.[49] It was the only country outside Europe and the Americas to report non-imported cases.[50] Reformation of food safety in light of the BSE cases resulted in the establishment of a governmental Food Safety Commission in 2003.[51]
### Europe[edit]
Main article: United Kingdom BSE outbreak
Evolution of the Bovine spongiform encephalopathy (BSE) epidemic in the UK.
Cattle are naturally herbivores, eating grasses. In modern industrial cattle-farming, though, various commercial feeds are used, which may contain ingredients including antibiotics, hormones, pesticides, fertilizers, and protein supplements. The use of meat and bone meal, produced from the ground and cooked leftovers of the slaughtering process, as well as from the carcasses of sick and injured animals such as cattle or sheep, as a protein supplement in cattle feed was widespread in Europe prior to about 1987.[18] Worldwide, soybean meal is the primary plant-based protein supplement fed to cattle. However, soybeans do not grow well in Europe, so cattle raisers throughout Europe turned to the cheaper animal byproduct feeds as an alternative. The British Inquiry dismissed suggestions that changes to processing might have increased the infectious agents in cattle feed, saying, "changes in process could not have been solely responsible for the emergence of BSE, and changes in regulation were not a factor at all."[52] (The prion causing BSE is not destroyed by heat treatment.)
The first confirmed instance in which an animal fell ill with the disease occurred in 1986 in the United Kingdom, and lab tests the following year indicated the presence of BSE; by November 1987, the British Ministry of Agriculture accepted it had a new disease on its hands.[53] Subsequently, 177 people (as of June 2014) contracted and died of a disease with similar neurological symptoms subsequently called (new) variant Creutzfeldt–Jakob disease (vCJD).[54][55] This is a separate disease from 'classical' Creutzfeldt–Jakob disease, which is not related to BSE and has been known about since the early 1900s. Three cases of vCJD occurred in people who had lived in or visited the UK – one each in the Republic of Ireland, Canada, and the United States of America. Also, some concern existed about those who work with (and therefore inhale) cattle meat and bone meal, such as horticulturists, who use it as fertilizer. Up-to-date statistics on all types of CJD are published by the National Creutzfeldt–Jakob Disease Surveillance Unit in Edinburgh, Scotland.[citation needed]
For many of the vCJD patients, direct evidence exists that they had consumed tainted beef, and this is assumed to be the mechanism by which all affected individuals contracted it.[citation needed] Disease incidence also appears to correlate with slaughtering practices that led to the mixture of nervous system tissue with ground meat (mince) and other beef. An estimated 400,000 cattle infected with BSE entered the human food chain in the 1980s.[citation needed] Although the BSE epizootic was eventually brought under control by culling all suspect cattle populations, people are still being diagnosed with vCJD each year (though the number of new cases currently has dropped to fewer than five per year). This is attributed to the long incubation period for prion diseases, which is typically measured in years or decades. As a result, the full extent of the human vCJD outbreak is still not known.[citation needed]
The scientific consensus is that infectious BSE prion material is not destroyed through cooking procedures, meaning that even contaminated beef foodstuffs prepared "well done" may remain infectious.[56][57] In fact the infectious agent remains viable over 600 °C (1,112 °F).
Alan Colchester, a professor of neurology at the University of Kent, and Nancy Colchester, writing in the 3 September 2005 issue of the medical journal The Lancet, proposed a theory that the most likely initial origin of BSE in the United Kingdom was the importation from the Indian Subcontinent of bone meal which contained CJD-infected human remains.[58] The government of India vehemently responded to the research, calling it "misleading, highly mischievous; a figment of imagination; absurd," further adding that India maintained constant surveillance and had not had a single case of either BSE or vCJD.[59][60] The authors responded in the 22 January 2006 issue of The Lancet that their theory is unprovable only in the same sense as all other BSE origin theories are and that the theory warrants further investigation.[61]
During the course of the investigation into the BSE epizootic, an enquiry was also made into the activities of the Department of Health Medicines Control Agency (MCA). On 7 May 1999, David Osborne Hagger, a retired civil servant who worked in the Medicines Division of the Department of Health between 1984 and 1994, produced a written statement to the BSE Inquiry in which he gave an account of his professional experience of BSE.[62]
In February 1989, the MCA had been asked to "identify relevant manufacturers and obtain information about the bovine material contained in children’s vaccines, the stocks of these vaccines and how long it would take to switch to other products." In July, "[the] use of bovine insulin in a small group of mainly elderly patients was noted and it was recognised that alternative products for this group were not considered satisfactory." In September, the BSE Working Party of the Committee on the Safety of Medicines (CSM) recommended that "no licensing action is required at present in regard to products produced from bovine material or using prepared bovine brain in nutrient media and sourced from outside the United Kingdom, the Channel Isles and the Republic of Ireland provided that the country of origin is known to be free of BSE, has competent veterinary advisers and is known to practise good animal husbandry."[citation needed]
In 1990, the British Diabetic Association became concerned regarding the safety of bovine insulin. The CSM assured them "[that] there was no insulin sourced from cattle in the UK or Ireland and that the situation in other countries was being monitored."
In 1991, the European Commission "[expressed] concerns about the possible transmission of the BSE/scrapie agent to man through use of certain cosmetic treatments."[citation needed]
In 1992, sources in France reported to the MCA "that BSE had now been reported in France and there were some licensed surgical sutures derived from French bovine material." Concerns were also raised at a CSM meeting "regarding a possible risk of transmission of the BSE agent in gelatin products."[62]
For this failure, France was heavily criticised internationally. Thillier himself queried why there had never been a ban on French beef or basic safety precautions to stop the food chain becoming contaminated, suggesting "Perhaps because the French government forgot its role in guaranteeing the safety of food products, and this neglect cost the lives of nine people."[63] The Sydney Morning Herald added, "while blustering French politicians blamed Britain for the emergence of the disease – and tried to quarantine the country by banning imports of British beef – they failed to adopt measures to prevent a hidden epidemic at home."[64]
In 2016 France confirmed a further case of BSE.[65]
In October 2015 a case of BSE was confirmed at a farm in Carmarthenshire in Wales. This seems to be the last case reported in the media in the UK [66] Previous to this there were two confirmed cases in Wales in 2013. In the last 10 years England and Wales have suffered the following number of outbreaks per year: 2007 53 confirmed outbreaks, 2008 33 confirmed, 2009 9 confirmed, 2010 11 confirmed, 2011 5 confirmed, 2012 2 confirmed, 2014 1 confirmed, 2016 0 confirmed [67]
In October 2018, a case of BSE was confirmed at a firm in Aberdeenshire, Scotland, the first such case in Scotland in a decade.[68] As of 18 October, the case was believed to be an isolated one, but four other animals from the same herd were being culled for precautionary reasons.[69] Scottish officials confirmed that the case had been identified as part of routine testing and that the diseased cow had not entered the human food chain.[70]
A number of other countries had isolated outbreaks of BSE confirmed, including Spain, Portugal, Belgium and Germany.[71]
#### The ban on British beef[edit]
The BSE crisis led to the European Union (EU) banning exports of British beef with effect from March 1996; the ban lasted for 10 years before it was finally lifted on 1 May 2006[72] despite attempts in May through September 1996 by British prime minister John Major to get the ban lifted. The ban, which led to much controversy in Parliament and to the incineration of over one million cattle from at least March 1996,[73] resulted in trade controversies between the UK and other EU states, dubbed "beef war" by media.[74] Restrictions remained for beef containing "vertebral material" and for beef sold on the bone.[72] France continued to impose a ban on British beef illegally long after the European Court of Justice had ordered it to lift its blockade, although it has never paid any fine for doing so.[63]
Russia was proceeding to lift the ban sometime after November 2012 after 16 years; the announcement was made during a visit by the UK's chief veterinary officer Nigel Gibbens.[75]
It was successfully negotiated that beef from Wales was allowed to be exported to the Dutch market, which had formerly been an important market for Northern Irish beef. Of two approved export establishments in the United Kingdom in 1999, one was in Scotland – an establishment to which live beef was supplied from Northern Ireland. As the incidence of BSE was very low in Northern Ireland – only six cases of BSE in 1999 – partly due to the early adoption of an advanced herd tagging and computerization system in the region, calls were made to remove the EU ban on exports with regard to Northern Irish beef.[76][77]
Similar wildcat bans from countries known to have BSE were imposed in various European countries, although these were mostly subsequently ruled illegal. The Economist noted, "Unfortunately, much of the crisis in Europe can be blamed on politicians and bureaucrats. Even while some European countries were clamouring for bans on British beef, they were ignoring warnings from the European Commission about how to avoid the spread of BSE in their own herds."[71]
## History[edit]
Different hypotheses exist for the origin of BSE in cattle. One hypothesis suggests it may have jumped species from the disease scrapie in sheep, and another hypothesis suggests that it evolved from a rare spontaneous form of "mad cow disease" that has been seen occasionally in cattle for many centuries.[78][79] In the 5th century BC, Hippocrates described a similar illness in cattle and sheep, which he believed also occurred in man.[80] Publius Flavius Vegetius Renatus recorded cases of a disease with similar characteristics in the fourth and fifth centuries AD.[81]
In more recent UK history, the official BSE inquiry (published 2000) suggested that the outbreak there "probably arose from a single point source in the southwest of England in the 1970s".[7]
## References[edit]
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30. ^ Eligibility Criteria for Blood Donation, American Red Cross
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37. ^ McNeil Jr DG (30 June 2005). "Case of Mad Cow in Texas Is First to Originate in U.S." The New York Times.
38. ^ Rampton S, Stauber J (2004). Mad Cow USA (1st ed.). Monroe, Maine: Common Courage Press. ISBN 978-1-56751-110-9.
39. ^ Barnes R, Lehman C (June 2013). "Modeling of bovine spongiform encephalopathy in a two-species feedback loop". Epidemics. 5 (2): 85–91. arXiv:1511.04470. doi:10.1016/j.epidem.2013.04.001. PMID 23746801. S2CID 1185101.
40. ^ "Creekstone Farms response to USDA appeal of summary judgement" (Press release). 3buddies. 30 May 2007. Archived from the original on 28 September 2007. Retrieved 20 June 2009.
41. ^ Seltzer M (12 July 2008). "Meat Recalls to Name Retailers". The Washington Post. Bloomberg News. Retrieved 20 June 2009.
42. ^ "Mad cow watch goes blind". USA Today. 3 August 2006. Retrieved 20 June 2009.
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44. ^ "Statistics". Trade Library. U.S. Meat Export Federation. Archived from the original on 14 May 2009. Retrieved 20 June 2009.
45. ^ "Statistics". Trade Library. U.S. Meat Export Federation. Retrieved 30 May 2018.
46. ^ Weiss R (1 January 2007). "Scientists Announce Mad Cow Breakthrough". The Washington Post. Retrieved 1 January 2007.
47. ^ "S. Korea retailers halt US beef sales, govt may act". Reuters. 25 April 2012.
48. ^ citation outdated
49. ^ Ministry of Health, Labour and Welfare: BSE Cases in Japan (accessed 7 May 2013)
50. ^ World Organisation for Animal Health: BSE situation in the world and annual incidence rate (accessed 7 May 2013)
51. ^ Kamisato T (September 2005). "BSE crisis in Japan: A chronological overview". Environmental Health and Preventive Medicine. 10 (5): 295–302. doi:10.1007/BF02897705. PMC 2723414. PMID 21432134.
52. ^ "The BSE Inquiry: Home". Open.gov.uk. October 2000. Archived from the original on 5 May 2009. Retrieved 27 August 2014.
53. ^ Pain S (5 November 1987). "Brain disease drives cows wild". NewScientist. Retrieved 7 December 2018.
54. ^ "Variant Creutzfeldt–Jakob Disease, Current Data (October 2009)". The National Creutzfeldt–Jakob Disease Surveillance Unit (NCJDSU), University of Edinburgh. October 2009. Archived from the original on 21 July 2012. Retrieved 14 October 2009.CS1 maint: bot: original URL status unknown (link);
55. ^ "Variant Creutzfeldt-Jakob Disease Current Data" (PDF). June 2014. Archived from the original (PDF) on 26 February 2015. Retrieved 11 February 2015.
56. ^ "Mad cow disease: Still a concern". MayoClinic.com. CNN. 10 February 2006. Archived from the original on 25 April 2005. Retrieved 20 June 2009.
57. ^ "Bovine Spongiform Encephalopathy – "Mad Cow Disease"". Fact Sheets. Food Safety and Inspection Service. March 2005. Archived from the original on 13 April 2008. Retrieved 8 April 2008.
58. ^ Colchester AC, Colchester NT (2005). "The origin of bovine spongiform encephalopathy: the human prion disease hypothesis". Lancet. 366 (9488): 856–61. doi:10.1016/S0140-6736(05)67218-2. PMID 16139661. S2CID 38330299.
59. ^ Mago C, Sinha K (2 September 2005). "India dismisses Lancet's mad cow". The Times of India. Retrieved 20 June 2009.
60. ^ Thompson G (5 September 2005). "New theory traces mad cow disease to animal feed exported from India". The World Today. ABC. Retrieved 20 June 2009.
61. ^ Baron T, Biacabe AG (January 2006). "Origin of bovine spongiform encephalopathy". Lancet. 367 (9507): 297–8, author reply 298–9. doi:10.1016/S0140-6736(06)68062-8. PMID 16443028. S2CID 54248829.
62. ^ a b "BSE Inquiry, Statement No. 476" (PDF). BSE Inquiry. 7 May 1999. Archived from the original (PDF) on 2 January 2008. Retrieved 16 October 2008. Statement of David Osborne Hagger, Head of Abridged Licensing and Coordinator of the Executive support business of the Medicines Division of the Department of Health at Market Towers in London.
63. ^ a b Sparks I (6 November 2008). "Yes, we had mad cow disease too, France confesses". Evening Standard. Retrieved 23 September 2017.
64. ^ Wilsher K (5 July 2004). "France in denial as BSE-infected beef entered food chain". SMH.com. Sydney Morning Herald. Retrieved 23 September 2017.
65. ^ Rousseau O (24 March 2016). "BSE-infected cow dies in France". GlobalMeatNews.com.
66. ^ "BSE 'mad cow disease' case from Carmarthenshire". BBC. 6 October 2015.
67. ^ "Number of cases of bovine spongiform encephalopathy (BSE) reported in the United Kingdom". World Organisation on Animal Health. 2016. Retrieved 18 October 2018.
68. ^ Carrell S (18 October 2018). "Movement ban imposed on Aberdeenshire farm following BSE case". the Guardian. Retrieved 18 October 2018.
69. ^ "'Mad cow disease' at Scottish farm". BBC News. 18 October 2018. Retrieved 18 October 2018.
70. ^ "Farm locked down after mad cow disease found in Scotland". Sky News. Retrieved 18 October 2018.
71. ^ a b "Europe's mad cows". The Economist. 28 November 2000. Retrieved 23 September 2017.
72. ^ a b "End to 10-year British beef ban". BBC News. 3 May 2006.
73. ^ worldpressphoto.org: "1997 Photo Contest - General News, Honorable Mention prize singles: Nigel Dickinson - United Kingdom" Caption: "A cow suspected of carrying BSE is placed in an incinerator. When a link was established in England between BSE, also known as 'mad cow disease', and Creutzfeldt-Jakob, a fatal brain condition in humans, it sparked off a political row in the European Union. British beef was banned worldwide, and by the year's end over a million cattle had been destroyed."
74. ^ "EU beef war escalates". CNNfn. 22 October 1999. Retrieved 4 June 2018.
75. ^ "Russia to lift 16-year ban on British beef and lamb". BBC News. 22 November 2012. Retrieved 4 June 2018.
76. ^ UK Parliament website Select Committee on Northern Ireland Affairs Second Report
77. ^ "Northern Ireland (BSE) (Hansard, 10 February 2000)". api.parliament.uk. 10 February 2000. Retrieved 12 October 2019. "My right hon. Friend will be aware that the Ulster Farmers Union has stated: On science and on fact we qualify as a low incidence region. There were, I believe, only six cases of BSE in Northern Ireland in 1999."
78. ^ MacKenzie, Debora (17 March 2007). "New twist in tale of BSE's beginnings". New Scientist. 193 (2595): 11. doi:10.1016/S0262-4079(07)60642-3. Retrieved 20 June 2009.
79. ^ Huor A, Espinosa JC, Vidal E, Cassard H, Douet JY, Lugan S, et al. (December 2019). "The emergence of classical BSE from atypical/Nor98 scrapie". Proceedings of the National Academy of Sciences of the United States of America. 116 (52): 26853–26862. doi:10.1073/pnas.1915737116. PMC 6936354. PMID 31843908.
80. ^ McAlister V (June 2005). "Sacred disease of our times: failure of the infectious disease model of spongiform encephalopathy". Clinical and Investigative Medicine. 28 (3): 101–4. PMID 16021982.
81. ^ Digesta Artis Mulomedicinae, Publius Flavius Vegetius Renatus
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|
Bovine spongiform encephalopathy
|
c0085209
| 26,341 |
wikipedia
|
https://en.wikipedia.org/wiki/Bovine_spongiform_encephalopathy
| 2021-01-18T18:30:13 |
{"mesh": ["D016643"], "umls": ["C0085209"], "wikidata": ["Q154666"]}
|
A rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.
## Epidemiology
Chronic granulomatous disease (CGD) average worldwide birth prevalence is estimated between 1/100,000 and 1/217,000.
## Clinical description
CGD can present at any age but is most commonly diagnosed before the age of 5 years. Manifestations include severe and recurrent infections most often due to a characteristic group of pathogens (including Staphylococcus aureus and Aspergillus spp) as well as granulomatous lesions mainly localized to the lung, lymph nodes, gastrointestinal tract and liver. Up to 50% of patients present with diarrhea, abdominal pain, and failure to thrive. Pneumonia, abscesses, cellulitis, adenitis and osteomyelitis are common. Mycobacterial diseases are usually limited to tuberculosis or regional and disseminated Bacillus Calmette-Guérin (BCG) infections. Invasive fungal infections are frequent. Dysregulated inflammation and granuloma formation can cause chorioretinal lesions, functional gastric outlet obstruction, inflammatory bowel disease (IBD), and wound dehiscence. Most female carriers are asymptomatic (unless >80% of their neutrophils are dysfunctional). Autoimmune disorders such as discoid lupus erythematosus and antiphospholipid syndrome can occur in some.
## Etiology
CGD is caused by mutations in any one of the 6 genes encoding the phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase subunits or a critical stabilizer. A mutation in the CYBB gene (Xp21.1) is seen in 65% of cases in North America and Western Europe. The other 35% of cases are due to mutations in the CYBA (16q24), NCF1 (7q11.23), NCF2 (1q25), NCF4 (22q13.1) and CYBC1(17q25.3) genes. A deficiency in the NADPH oxidase enzyme complex leads to decreased production of reactive oxygen species (used by phagocytes to kill bacteria and fungi). The X-linked form of CGD typically presents with infection or IBD earlier than the NCF1-related form. To date, the NCF4-related form has only been associated with IBD but no severe infections.
## Diagnostic methods
Diagnosis is suspected on clinical findings and confirmed by laboratory tests. Nitroblue tetrazolium (NBT) or dihydrorhodamine (DHR) oxidation assays measure the neutrophil superoxide production by the NADPH oxidase complex, which is absent or greatly reduced. Molecular genetic testing can be used to confirm the diagnosis and identify the specific subunit affected, but is not necessary unless gene therapy or allogeneic transplantation are anticipated. Immunoblot analysis can confirm the absence of the specific NADPH oxidase complex subunit involved.
## Differential diagnosis
Differential diagnosis includes cystic fibrosis, Crohn disease, hyper-IgE syndrome, allergic bronchopulmonary aspergillosis, glutathione synthetase deficiency, and secondary hemophagocytic lymphohistiocytosis. Myeloperoxidase deficiency must also be excluded, as it gives a false positive for the DHR assay test.
## Antenatal diagnosis
Prenatal diagnosis is possible in families with a disease-causing mutation.
## Genetic counseling
CGD follows an X-linked pattern of inheritance in those with a CYBB mutation. It can also be inherited autosomal recessively (due to CYBA, NCF1, NCF2, NCF4 and CYBC1 mutations). Genetic counseling is possible in families when a disease-causing gene has been identified.
## Management and treatment
Antibacterial and antifungal prophylaxis is essential in preventing the infections seen in CGD. Lifelong daily doses of trimethoprim-sulfamethoxazole (antibacterial) and itraconazole (anti-fungal) are recommended. Interferon-gamma, 3 times weekly, is also recommended. Hematopoietic stem cell transplantation may be curative and is increasingly used. Gene therapy has been successful in a few cases and is expanding. In those with severe infections, granulocyte transfusions are sometimes used.
## Prognosis
The prognosis has greatly improved with the use of antibacterial and antifungal prophylaxis therapy, with most patients living well into adulthood.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Chronic granulomatous disease
|
c0018203
| 26,342 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=379
| 2021-01-23T18:12:47 |
{"gard": ["6100"], "mesh": ["D006105"], "omim": ["233670", "233690", "233700", "233710", "306400", "613960"], "umls": ["C0018203"], "icd-10": ["D71"], "synonyms": ["CGD", "Chronic septic granulomatosis"]}
|
Occupational lung diseases are occupational, or work-related, lung conditions that have been caused or made worse by the materials a person is exposed to within the workplace. It includes a broad group of diseases, including occupational asthma, industrial bronchitis, chronic obstructive pulmonary disease (COPD), bronchiolitis obliterans, inhalation injury, interstitial lung diseases (such as pneumoconiosis, hypersensitivity pneumonitis, lung fibrosis), infections, lung cancer and mesothelioma.[1][2] These diseases can be caused directly or due to immunological response to an exposure to a variety of dusts, chemicals, proteins or organisms.
Occupational cases of interstitial lung disease may be misdiagnosed as COPD, idiopathic pulmonary fibrosis, or a myriad of other diseases; leading to a delay in identification of the causative agent.[3][4]
## Contents
* 1 Types of occupational lung diseases
* 1.1 Asthma
* 1.2 Bronchiolitis obliterans
* 1.3 COPD
* 1.4 Hypersensitivity pneumonitis
* 1.5 Lung cancer
* 1.6 Mesothelioma
* 1.7 Pneumoconiosis
* 1.8 Smoke Inhalation
* 1.9 Pulmonary Aspiration Syndromes
* 2 Occupational environmental exposure
* 2.1 Arsenic
* 2.2 Asbestos
* 2.3 BCME
* 2.4 Beryllium
* 2.5 Cadmium
* 2.6 Chromium
* 2.7 Coal dust
* 2.8 Diesel exhaust
* 2.9 Flock
* 2.10 Indium lung
* 2.11 Nanoparticles
* 2.12 Nickel
* 2.13 Polycyclic aromatic hydrocarbons
* 2.14 Silica
* 2.15 Silo-filler's disease
* 2.16 Tobacco smoke
* 3 Infectious exposure
* 3.1 Influenza
* 3.2 Tuberculosis
* 4 Others
* 4.1 World Trade Center lung
* 5 Examples
* 6 References
## Types of occupational lung diseases[edit]
### Asthma[edit]
Main article: Occupational asthma
Asthma is a respiratory disease that can begin or worsen due to exposure at work and is characterized by episodic narrowing of the respiratory tract. Occupational asthma has a variety of causes, including sensitization to a specific substance, causing an allergic response; or a reaction to an irritant that is inhaled in the workplace. Exposure to various substances can also worsen pre-existing asthma. People who work in isocyanate manufacturing, who use latex gloves, or who work in an indoor office environment are at higher risk for occupational asthma than the average US worker. Approximately 2 million people in the US have occupational asthma.[3]
### Bronchiolitis obliterans[edit]
Main article: Bronchiolitis obliterans
Bronchiolitis obliterans, also known as constrictive bronchiolitis or obliterative bronchiolitis is a respiratory disease caused by injury to the smallest airways, called bronchioles. It has been reported to occur from exposure to inhaled toxins and gases including sulfur mustard gas, nitrogen oxides, diacetyl (used in many food and beverage flavorings), 2,3-pentanedione, fly ash and fiberglass.[5]
### COPD[edit]
Main article: Chronic obstructive pulmonary disease
Chronic obstructive pulmonary disease is a respiratory disease that can encompass chronic bronchitis and/or emphysema. 15% of the cases of COPD in the United States can be attributed to occupational exposure, including exposure to silica and coal dust. People who work in mining, construction, manufacturing (specifically textiles, rubber, plastic, and leather), building, and utilities are at higher risk for COPD than the average US worker.[3]
### Hypersensitivity pneumonitis[edit]
Main article: Hypersensitivity pneumonitis
Hypersensitivity pneumonitis (HP; also called allergic alveolitis, bagpipe lung, or extrinsic allergic alveolitis, EAA) is an inflammation of the alveoli within the lung caused by hypersensitivity to inhaled organic dusts.[6]
### Lung cancer[edit]
Main article: Lung cancer
Numerous categories of ionizing radiation, chemicals and mixtures, occupational exposures, metals, dust and fibers have been linked to occurrence of lung cancer.[7]
### Mesothelioma[edit]
Main article: Mesothelioma
Mesothelioma is a cancer of the mesothelium, part of which is the pleura, the lining of the lungs. Mesothelioma is caused by exposure to asbestos.[3]
### Pneumoconiosis[edit]
Main article: Pneumoconiosis
Pneumoconiosis are occupational lung diseases that are caused due to accumulation of dust in the lungs and body's reaction to its presence. Most common pneumoconiosis are silicosis, coal workers’ pneumoconiosis (CWP), and asbestosis. Other examples include minerals (such kaolin, talc, mica), beryllium lung disease, hard metal disease and silicon carbide pneumoconiosis.[8]
### Smoke Inhalation[edit]
[9]Inhaling smoke and other byproducts of combustion can cause pulmonary injury. A third of all burn victims admitted to a hospital are affected with pulmonary injury from inhaling smoke and fatality from inhalation injuries is higher than burn injuries - mortality exceeds 50% for burn victims with severe burn and inhalation injury. Tissue oxygenation is significantly affected and thermal injury to the upper airways, lower airways, and lung parenchyma occurs.
poor tissue oxygenation is a life-threatening conditions and results from inhaling carbon monoxide, cyanide, a gas mixtures devoid of oxygen, or from an imbalance between alveolar ventilation and blood supply.
Carbon monoxide is a colorless and odorless gas, which can interfere with and impede respiration. Oxygen’s tendency to bind with hemoglobin is 250 times less than carbon monoxide, severely reducing the quantity of circulating oxygen and limiting tissue oxygenation in carbon monoxide poisoning. Exposure can be deliberate (suicidal) or accidental and can come from automobile exhaust pipes, inhaling smoke during a fire accident, and poorly vented gas heaters, generators, and other appliances.[citation needed]
Cyanide is inhaled into the lungs in gaseous form – as hydrogen cyanide. It is a highly toxic chemical often used in industries and in laboratories. In some plants such as in pits of apricots, cyanide can be found as glycosides can synthesize cyanide[citation needed].
Cyanide is produced when nitroprusside is broken down into its constituents. Rapid infusion of high-dose cyanide cause cyanide poisoning. Finger nail glue remover products contain acetonitrile and its metabolic break down produces cyanide. Cyanide can enter the body via inhalation, diffuse through the skin, or when ingested. It inhibits cells from properly utilizing oxygen by disrupting cytochrome oxidase.[citation needed]
### Pulmonary Aspiration Syndromes[edit]
[9]Deglutition is the main cause for minute food and fluid to get aspirated into the lungs. Impaired consciousness and esophageal disorders can cause deglutition.
Acute Aspiration of Gastric Content (Mendelson Syndrome): pulmonary response to aspirated content depend on the quantity and constituent of aspirated gastric content. Chemical pneumonitis is severe if aspirated content is acidic and aspirated gastric acid – pH less than 2.5 – can inflame bronchial epithelium and cause bronchiolitis, hemorrhagen, and pulmonary edema.[citation needed]
Chronic Aspiration of Gastric Contents: disorders of the larynx and the esophagus are major causes of chronic aspiration of gastric content – achalasia, esophageal stricture, systemic sclerosis (scleroderma), esophageal carcinoma, esophagitis, and gastro-esophageal reflux. Pulmonary aspiration can result when the lower intestinal sphincter relax and spill out gastric content into the esophagus.[citation needed]
Smoking, consuming alcohol or caffeine, and the drug theophylline used in asthma patients are known to cause lower intestinal sphincter relaxation. Gastro-esophageal reflux and chronic aspiration are associated with few pulmonary disorders: asthma, chronic cough, bronchiectasis, and pulmonary fibrosis.[citation needed]
Difficulty swallowing, ageing, dental problems impeding proper chewing, consuming alcohol, and taking sedatives cause café coronary, obstruction of the upper airways by food particles.[citation needed]
Retaining an Aspirated Foreign Body: poor clearance of aspirated material out of the tracheobronchial tree can result in acute and chronic conditions including atelectasis, post obstructive hyperinflation, acute and recurrent pneumonia, bronchiectasis, and lung abscesses. Retained aspirated foreign body can sometimes get misdiagnosed as asthma, chronic obstructive pulmonary disease (COPD), or lung cancer[citation needed]
Aspirating an Inert Material: aspirating large inert material coupled with an impaired cough can cause asphyxia[citation needed]
Hydrocarbon Pneumonitis: secondary aspiration following vomiting ingested petroleum products – gasoline, kerosene, furniture polish, and other petroleum products used around home environment – can injure lungs and result in hydrocarbon pneumonitis[citation needed]
Lipoid Pneumonia: is a chronic disorder common among older people who have difficulty swallowing, with aspiration of oily material - mineral oil, cod liver oil, and oily nose drops - as its mains cause
## Occupational environmental exposure[edit]
### Arsenic[edit]
Main article: Arsenic
Arsenic is classified as an IARC Group 1 carcinogen and is a cause of lung cancer. Workers can be exposed to arsenic through work with some pesticides or in copper smelting.[3]
### Asbestos[edit]
Main article: Asbestos
Asbestos is a mineral which was extensively used in the United States to fireproof buildings and textiles, among other items, in the 1950s-1980s. Workers are frequently exposed to asbestos during demolition and renovation work, which can cause asbestosis and/or mesothelioma. Asbestos exposure can also cause pleural effusion, diffuse pleural fibrosis, pleural plaques, and non-mesothelioma lung cancer. Smoking greatly increases the lung cancer risk of asbestos exposure.[3]
Residents and workers of asbestos mining centers such as the town of Asbest, Russia suffer dangerous exposure to asbestos and asbestos dust.[10]
### BCME[edit]
Main article: BCME
BCME (Bis(chloromethyl) ether) is associated with small cell lung cancer in workers who have been exposed.[3][11] Exposure can occur via direct manufacture of BCME or its presence as a byproduct.[3]
### Beryllium[edit]
Main article: Beryllium
Beryllium is classified as an IARC Group 1 carcinogen and can also cause interstitial lung disease. Manufacturing workers, dental technicians, machinists, jewelers, plumbers, electricians, precious metal reclamation workers, and welders are at risk for beryllium exposure.[3]
### Cadmium[edit]
Main article: Cadmium
Cadmium is classified as an IARC Group 1 carcinogen and it is a cause of several cancers, including lung cancer. Workers can be exposed to cadmium through welding, zinc smelting, copper smelting, lead smelting, electroplating, battery manufacture, plastics manufacture, and in alloying.[3]
### Chromium[edit]
Main article: Chromium
Chromium is classified as an IARC Group 1 carcinogen and is linked to lung cancer. Workers can be exposed to chromium via welding, steel manufacturing, pigment/dye manufacturing, and electroplating.[3]
### Coal dust[edit]
Main article: Coal dust
Exposure to coal dust is the cause of coalworker's pneumoconiosis, also called "black lung disease", is an interstitial lung disease caused by long-term exposure (over 10 years) to coal dust. Symptoms include shortness of breath and lowered pulmonary function. It can be fatal when advanced. Between 1970–1974, prevalence of CWP among US coal miners who had worked over 25 years was 32%; the same group saw a prevalence of 9% in 2005–2006.It can also exacerbate or cause COPD.[3]
### Diesel exhaust[edit]
Main article: Diesel exhaust
Diesel exhaust contains a variety of gaseous and particulate chemicals, including soot, polycyclic aromatic hydrocarbons, and other known carcinogens.[3]
### Flock[edit]
Main article: Flocking (texture)
Flocking is the technique of adding small pieces of nylon or other material to a backing, usually a textile, to create a contrasting texture. Inhalation of flock can cause flock worker's lung.[3]
### Indium lung[edit]
Main article: Indium lung
Indium lung is an interstitial lung disease caused by occupational exposure to indium tin oxide.[4]
### Nanoparticles[edit]
Main article: Nanoparticles
The high surface area to volume ratio of nanoparticles may make them an inhalation hazard for workers exposed to them. This is a topic of ongoing research as of 2015.[3]
### Nickel[edit]
Main article: Nickel
Nickel is classified by the IARC as a Group 1 carcinogen; nickel compound exposure is associated with nasal cancer as well as lung cancer. Workers may be exposed to nickel in machining/grinding industry, nickel extraction/production, welding, and electroplating.[3]
### Polycyclic aromatic hydrocarbons[edit]
Main article: Polycyclic aromatic hydrocarbons
Polycyclic aromatic hydrocarbons (PAHs), fused-ring chemicals formed during the combustion of fossil fuels, are metabolized by the cytochrome P450 complex to highly reactive carbocations, which can mutate DNA and cause cancer. Workers may be exposed to PAHs while working in a foundry, in the roofing industry, or due to environmental tobacco smoke.[3]
### Silica[edit]
Main article: Silica
Exposure to silica can cause Silicosis, which is a fibrosing interstitial lung disease caused by inhaling fine particles of silica, most commonly in the form of quartz or cristobalite. Short-term exposures of large amounts of silica or long-term (10 years or more) exposure of lower levels of silica can cause silicosis. In 1968, more than 1060 US workers died of silicosis; this number fell to 170 by 2005.[3]
Besides causing silicosis, inhalation of silica can cause or exacerbate COPD. It can also impair lung function in general and cause cancer by oxidation damage. It is classified as a "known human carcinogen" (Group 1 carcinogen) by the IARC. Exposure is common for people working in tunneling, quarrying, construction, sandblasting, roadway repair, mining, and foundry work.[3]
### Silo-filler's disease[edit]
Silo-filler's disease (not to be confused with farmer's lung associated with inhalation of biologic dusts) results from inhalation of nitrogen dioxide (NO2) gas from fresh silage. The presentation is variable depending on level of exposure. Often the gas penetrates throughout the lung and if severe can manifest as a form of acute respiratory distress syndrome, such as significant pulmonary edema, hyalinized alveolar membranes, congestion and other respiratory illnesses.[12][13]
### Tobacco smoke[edit]
Main article: Passive smoke
Tobacco smoke is a known carcinogen. Workers in the hospitality industry may be exposed to tobacco smoke in the workplace, especially in environments like casinos and bars/restaurants.[3]
## Infectious exposure[edit]
### Influenza[edit]
Main article: Influenza
Health care professionals are at risk of occupational influenza exposure; during a pandemic influenza, anyone in a close environment is at risk, including those in an office environment.[3]
### Tuberculosis[edit]
Main article: Tuberculosis
Tuberculosis is a lung disease endemic in many parts of the world. Health care professionals and prison guards are at high risk for occupational exposure to tuberculosis, since they work with populations with high rates of the disease.[3]
## Others[edit]
### World Trade Center lung[edit]
Main article: World Trade Center lung
World Trade Center lung is a cluster of diseases caused by exposure to fallout at Ground Zero of the September 11 attacks in 2001. These diseases include asthma, asthmatic bronchitis, terminal airways disease, sarcoidosis, and acute eosinophilic pneumonia.[4]
## Examples[edit]
* Pneumoconiosis
* Asbestosis
* Baritosis
* Bauxite fibrosis
* Berylliosis
* Caplan's syndrome
* Chalicosis
* Coalworker's pneumoconiosis (black lung)
* Siderosis
* Silicosis
* Byssinosis
* Hypersensitivity pneumonitis
* Bagassosis
* Bird fancier's lung
* Farmer's lung
## References[edit]
1. ^ Beckett, W. S. (2000-02-10). "Occupational respiratory diseases". The New England Journal of Medicine. 342 (6): 406–413. doi:10.1056/NEJM200002103420607. ISSN 0028-4793. PMID 10666432.
2. ^ Cullinan, Paul; Muñoz, Xavier; Suojalehto, Hille; Agius, Raymond; Jindal, Surinder; Sigsgaard, Torben; Blomberg, Anders; Charpin, Denis; Annesi-Maesano, Isabella (May 2017). "Occupational lung diseases: from old and novel exposures to effective preventive strategies". The Lancet. Respiratory Medicine. 5 (5): 445–455. doi:10.1016/S2213-2600(16)30424-6. hdl:10044/1/65052. ISSN 2213-2619. PMID 28089118.
3. ^ a b c d e f g h i j k l m n o p q r s t u v "Respiratory Diseases: Occupational Risks". National Institute for Occupational Safety and Health. 21 December 2012. Retrieved 23 March 2015.
4. ^ a b c Sauler, Maor; Gulati, Mridu (December 2012). "Newly recognized occupational and environmental causes of chronic terminal airways and parenchymal lung disease". Clinics in Chest Medicine. 33 (4): 667–680. doi:10.1016/j.ccm.2012.09.002. PMC 3515663. PMID 23153608.
5. ^ Barker, Alan F.; Bergeron, Anne; Rom, William N.; Hertz, Marshall I. (2014). "Obliterative Bronchiolitis". New England Journal of Medicine. 370 (19): 1820–1828. doi:10.1056/nejmra1204664. PMID 24806161.
6. ^ Selman, Moisés; Pardo, Annie; King, Talmadge E. (2012-12-14). "Hypersensitivity Pneumonitis". American Journal of Respiratory and Critical Care Medicine. 186 (4): 314–324. doi:10.1164/rccm.201203-0513ci. PMID 22679012.
7. ^ Field, R. William; Withers, Brian L. (2012). "Occupational and Environmental Causes of Lung Cancer". Clinics in Chest Medicine. 33 (4): 681–703. doi:10.1016/j.ccm.2012.07.001. PMC 3875302. PMID 23153609.
8. ^ Murray & Nadel's textbook of respiratory medicine. Elsevier Saunders. 2016. pp. 1307–1330. ISBN 978-1-4557-3383-5.
9. ^ a b "Medically Sound: Working on the Loom, Smelting Iron, Hoarding Produce, Digging Coal, Making a Pop Corn – While on the Job…". Medically Sound. 2020-10-03. Retrieved 2020-11-01.
10. ^ Higgins, Andrew (7 April 2019). "In Asbest, Russia, Making Asbestos Great Again". The New York Times. Retrieved 13 April 2019.
11. ^ "Bis(chloromethyl)ether (BCME) (CASRN 542-88-1)". IRIS (Integrated Risk Information System). EPA. 31 October 2014. Retrieved 31 March 2015.
12. ^ Chan-Yeung M, Ashley MJ, Grzybowski S (1978). "Grain dust and the lungs". Can Med Assoc J. 118 (10): 1271–4. PMC 1818652. PMID 348288.CS1 maint: multiple names: authors list (link)
13. ^ Gurney JW; et al. (Jul 1991). "Agricultural disorders of the lung". Radiographics. 11 (4): 625–34. doi:10.1148/radiographics.11.4.1887117. PMID 1887117.
* v
* t
* e
Diseases of the respiratory system
Upper RT
(including URTIs,
common cold)
Head
sinuses
Sinusitis
nose
Rhinitis
Vasomotor rhinitis
Atrophic rhinitis
Hay fever
Nasal polyp
Rhinorrhea
nasal septum
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tonsil
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Adenoid hypertrophy
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Neck
pharynx
Pharyngitis
Strep throat
Laryngopharyngeal reflux (LPR)
Retropharyngeal abscess
larynx
Croup
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Laryngeal cyst
Laryngitis
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Laryngospasm
vocal cords
Laryngopharyngeal reflux (LPR)
Vocal fold nodule
Vocal fold paresis
Vocal cord dysfunction
epiglottis
Epiglottitis
trachea
Tracheitis
Laryngotracheal stenosis
Lower RT/lung disease
(including LRTIs)
Bronchial/
obstructive
acute
Acute bronchitis
chronic
COPD
Chronic bronchitis
Acute exacerbation of COPD)
Asthma (Status asthmaticus
Aspirin-induced
Exercise-induced
Bronchiectasis
Cystic fibrosis
unspecified
Bronchitis
Bronchiolitis
Bronchiolitis obliterans
Diffuse panbronchiolitis
Interstitial/
restrictive
(fibrosis)
External agents/
occupational
lung disease
Pneumoconiosis
Aluminosis
Asbestosis
Baritosis
Bauxite fibrosis
Berylliosis
Caplan's syndrome
Chalicosis
Coalworker's pneumoconiosis
Siderosis
Silicosis
Talcosis
Byssinosis
Hypersensitivity pneumonitis
Bagassosis
Bird fancier's lung
Farmer's lung
Lycoperdonosis
Other
* ARDS
* Combined pulmonary fibrosis and emphysema
* Pulmonary edema
* Löffler's syndrome/Eosinophilic pneumonia
* Respiratory hypersensitivity
* Allergic bronchopulmonary aspergillosis
* Hamman-Rich syndrome
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Obstructive / Restrictive
Pneumonia/
pneumonitis
By pathogen
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* Mycoplasma
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* noninfectious
* Chemical/Mendelson's syndrome
* Aspiration/Lipid
By vector/route
* Community-acquired
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* Hospital-acquired
By distribution
* Broncho-
* Lobar
IIP
* UIP
* DIP
* BOOP-COP
* NSIP
* RB
Other
* Atelectasis
* circulatory
* Pulmonary hypertension
* Pulmonary embolism
* Lung abscess
Pleural cavity/
mediastinum
Pleural disease
* Pleuritis/pleurisy
* Pneumothorax/Hemopneumothorax
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Hemothorax
Hydrothorax
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Malignant
Fibrothorax
Mediastinal disease
* Mediastinitis
* Mediastinal emphysema
Other/general
* Respiratory failure
* Influenza
* Common cold
* SARS
* Coronavirus disease 2019
* Idiopathic pulmonary haemosiderosis
* Pulmonary alveolar proteinosis
* v
* t
* e
Aspects of occupations
* Apartheid
* Asthma
* Burnout
* Closure
* Crime
* Disease
* Fatality
* Hygiene
* Inequality
* Injury
* Injustice
* Medicine
* Prestige
* Psychology
* Psychosis
* Rehabilitation
* Repetitive strain injury
* Safety and health
* Science
* Stress
* Therapist
* Therapy
* Therapy in the United Kingdom
See also templates
Aspects of corporations
Aspects of jobs
Aspects of organizations
Aspects of workplaces
Occupational safety and health
Employment
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Occupational lung disease
|
c0264421
| 26,343 |
wikipedia
|
https://en.wikipedia.org/wiki/Occupational_lung_disease
| 2021-01-18T18:35:46 |
{"umls": ["C0264421"], "wikidata": ["Q7075805"]}
|
## Summary
The purpose of this overview is to increase the awareness of clinicians regarding megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) and its genetic causes and management.
The following are the goals of this overview:
### Goal 1.
Describe the clinical characteristics of MMIHS.
### Goal 2.
Review the genetic causes of MMIHS.
### Goal 3.
Provide an evaluation strategy to identify the genetic cause of MMIHS in a proband (when possible).
### Goal 4.
Inform genetic counseling of family members of an individual with MMIHS.
### Goal 5.
Review management of MMIHS.
## 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview
|
c1608393
| 26,344 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK540960/
| 2021-01-18T21:11:51 |
{"mesh": ["C536138"], "synonyms": ["Berdon Syndrome", "MMHS"]}
|
A rare non-syndromic limb reduction defect characterized by congenital total absence of the foot and ankle with no bony elements distal to the tibia or fibula, while the lower leg, including the epiphysis of the tibia and fibula, is present. The malformation can be unilateral or bilateral.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Apodia
|
c0265624
| 26,345 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=294986
| 2021-01-23T17:23:13 |
{"umls": ["C0265624"], "icd-10": ["Q72.3"], "synonyms": ["Congenital absence of foot"]}
|
A number sign (#) is used with this entry because of evidence that this form of familial erythrocytosis is caused by a gain-of-function mutation in the HIF2A gene (EPAS1; 603349).
For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100).
Description
Familial erythrocytosis-4 is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration and elevated serum erythropoietin (EPO; 133170).
Clinical Features
Percy et al. (2008) described a United Kingdom family with erythrocytosis in 3 generations. The index patient was a 43-year-old man who, at 23 years of age, had been found to have an elevated hemoglobin level (21 g/dl) and elevated hematocrit (64%) with normal white cell and platelet counts. Hematocrit was maintained below 45% by venesection 2 to 3 times yearly. A deep venous thrombosis had developed at 42 years of age. The patient's mother had a hemoglobin level of 16.3 g/dl at 35 years of age, and hematocrit was 50% with normal white cell and platelet counts. Red cell mass was elevated at 33 ml/kg. She was treated by regular venesection. The patient's 89-year-old maternal grandmother presented at 54 years of age with elevated values for hemoglobin, hematocrit, and red cell mass, with normal white cell and platelet counts. Venesection had been performed 2 or 3 times yearly to maintain the hematocrit below 50% until age 81 years, after which time it was not required. The patient's father and brother were unaffected.
Molecular Genetics
In affected members of a family with erythrocytosis, Percy et al. (2008) detected heterozygosity for a gly537-to-trp mutation in the HIF2A gene (G537W; 603349.0001). Functional studies indicated that this mutation led to stabilization of the HIF2A protein and suggested that wildtype HIF2A protein regulates production of erythropoietin in adults.
Perrotta and Della Ragione (2008) stated that they analyzed the HIF1A (603348) and HIF2A genes in 125 patients with familial erythrocytosis; none of the patients had a mutation in HIF1A, but 1 patient had a mutation (G537R; 603349.0002) involving the same residue of the HIF2A gene previously identified by Percy et al. (2008).
Percy et al. (2008) identified heterozygous mutations in exon 12 of the EPAS1 gene (603349.0002-603349.0003) in 4 unrelated patients with erythrocytosis. Three patients had the same mutation.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
ERYTHROCYTOSIS, FAMILIAL, 4
|
c2673187
| 26,346 |
omim
|
https://www.omim.org/entry/611783
| 2019-09-22T16:02:51 |
{"doid": ["0080339"], "mesh": ["C567086"], "omim": ["611783"], "orphanet": ["247511"], "synonyms": ["Autosomal dominant secondary erythrocytosis"]}
|
Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems. There are two main types of thalassemia, alpha thalassemia and beta thalassemia. Signs and symptoms vary but may include mild to severe anemia, paleness, fatigue, yellow discoloration of skin (jaundice), and bone problems. Beta thalassemia is caused by changes (mutations) in the HBB gene while alpha thalassemia is caused by mutations in the HBA1 and/or HBA2 genes. Both are inherited in an autosomal recessive manner. Treatment depends on the type and severity of the condition but may include blood transfusions and/or folic acid supplements.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Thalassemia
|
c0039730
| 26,347 |
gard
|
https://rarediseases.info.nih.gov/diseases/7756/thalassemia
| 2021-01-18T17:57:23 |
{"mesh": ["D013789"], "umls": ["C0039730"], "synonyms": []}
|
Paraganglioma
Other nameschemodectoma, paraganglioma, carotid body tumour, glomus cell tumour
Micrograph of a carotid body tumour (a type of paraganglioma).
SpecialtyOncology
A paraganglioma is a rare neuroendocrine neoplasm that may develop at various body sites (including the head, neck, thorax and abdomen). When the same type of tumor is found in the adrenal gland, they are referred to as a pheochromocytoma. They are rare tumors, with an overall estimated incidence of 1/300,000.[1] Unlike other types of cancer, there is no test that determines benign from malignant tumors; long-term followup is therefore recommended for all individuals with paraganglioma.[2]
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Pathology
* 4 Sites of origin
* 5 Diagnosis
* 5.1 Classification
* 6 Treatment
* 7 Additional images
* 8 See also
* 9 References
* 10 External links
## Signs and symptoms[edit]
Most paragangliomas are either asymptomatic or present as a painless mass. While all contain neurosecretory granules, only in 1–3% of cases is secretion of hormones such as catecholamines abundant enough to be clinically significant; in that case manifestations often resemble those of pheochromocytomas (intra-medullary paraganglioma).[citation needed]
## Genetics[edit]
About 75% of paragangliomas are sporadic; the remaining 25% are hereditary (and have an increased likelihood of being multiple and of developing at an earlier age). Mutations of the genes for the succinate dehydrogenase, SDHD (previously known as PGL1), SDHA, SDHC (previously PGL3) and SDHB have been identified as causing familial head and neck paragangliomas. Mutations of SDHB play an important role in familial adrenal pheochromocytoma and extra-adrenal paraganglioma (of abdomen and thorax), although there is considerable overlap in the types of tumors associated with SDHB and SDHD gene mutations. Paragangliomas may also occur in MEN type 2A and 2B. Other genes related to familial paraganglioma are SDHAF2,[3] VHL, NF1, TMEM127,[4] MAX[5] and SLC25A11.[6]
## Pathology[edit]
Mediastinal paraganglioma. The cut surface of a 3.9 × 3.5 × 2.5 cm tumor is triangular, with a bulging peripheral portion and a somewhat fibrotic center. It was surrounded by the heart, left lower lobe of the lung, aorta, esophagus, and diaphragm, and had been 1.8 cm in diameter 7 years before.
Micrograph of a carotid body tumor with the characteristic Zellballen. H&E stain.
The paragangliomas appear grossly as sharply circumscribed polypoid masses and they have a firm to rubbery consistency. They are highly vascular tumors and may have a deep red color.[citation needed]
On microscopic inspection, the tumor cells are readily recognized. Individual tumor cells are polygonal to oval and are arranged in distinctive cell balls, called Zellballen.[7] These cell balls are separated by fibrovascular stroma and surrounded by sustentacular cells.
By light microscopy, the differential diagnosis includes related neuroendocrine tumors, such as carcinoid tumor, neuroendocrine carcinoma, and medullary carcinoma of the thyroid.
With immunohistochemistry, the chief cells located in the cell balls are positive for chromogranin, synaptophysin, neuron specific enolase, serotonin, neurofilament and Neural cell adhesion molecule; they are S-100 protein negative. The sustentacular cells are S-100 positive and focally positive for glial fibrillary acidic protein. By histochemistry, the paraganglioma cells are argyrophilic, periodic acid Schiff negative, mucicarmine negative, and argentaffin negative.[citation needed]
## Sites of origin[edit]
About 85% of paragangliomas develop in the abdomen; only 12% develop in the chest and 3% in the head and neck region (the latter are the most likely to be symptomatic). While most are single, rare multiple cases occur (usually in a hereditary syndrome). Paragangliomas are described by their site of origin and are often given special names:
* Head and neck paraganglioma (HNPGL): There are various types of head and neck paraganglioma; they may have specialized names depending on the precise location.[8]
* Carotid paraganglioma (carotid body tumor): Is the most common of the head and neck paragangliomas. It usually presents as a painless neck mass, but larger tumors may cause cranial nerve palsies, usually of the vagus nerve and hypoglossal nerve.
* Glomus tympanicum and Glomus jugulare, also known as jugulotympanic paraganglioma: Both commonly present as a middle ear mass resulting in tinnitus (in 80%) and hearing loss (in 60%). The cranial nerves of the jugular foramen may be compressed, resulting swallowing difficulty, or ipsilateral weakness of the upper trapezius and sternocleiodomastoid muscles (from compression of the spinal accessory nerve). These patients present with a reddish bulge behind an intact ear drum. This condition is also known as the "Red drum". On application of pressure to the external ear canal with the help of a pneumatic ear speculum the mass could be seen to blanch. This sign is known as "Brown's sign". A deficient bony plate along the tympanic portion of the internal carotid artery (aberrant ICA) is a normal variant and can be mistaken with glomus jugulare.[9]
* Organ of Zuckerkandl: A collection of paraganglia near the bifurcation of the aorta, comprising a small mass of neural crest-derived chromaffin cells. Serves as a common origin of abdominal paragangliomas.
* Vagal paraganglioma: These are the least common of the head and neck paragangliomas. They usually present as a painless neck mass, but may result in dysphagia and hoarseness.
* Pulmonary paraganglioma: These occur in the lung and may be either single or multiple.[10]
* Other sites: Rare sites of involvement are the larynx, nasal cavity, paranasal sinuses, thyroid gland, and the thoracic inlet, as well as the bladder in extremely rare cases.
## Diagnosis[edit]
### Classification[edit]
Paragangliomas originate from paraganglia in chromaffin-negative glomus cells derived from the embryonic neural crest, functioning as part of the sympathetic nervous system (a branch of the autonomic nervous system). These cells normally act as special chemoreceptors located along blood vessels, particularly in the carotid bodies (at the bifurcation of the common carotid artery in the neck) and in aortic bodies (near the aortic arch).[citation needed]
Accordingly, paragangliomas are categorised as originating from a neural cell line in the World Health Organization classification of neuroendocrine tumors. In the categorization proposed by Wick, paragangliomas belong to group II.[11] Given the fact that they originate from cells of the orthosympathetic system, paragangliomas are closely related to pheochromocytomas, which however are chromaffin-positive.
## Treatment[edit]
The main treatment modalities are surgery, embolization[12] and radiotherapy.[13]
## Additional images[edit]
* Micrograph of a carotid body tumor
* Glomus jugulare tumor
* Ectopic functional paraganglioma (glomus jugulare) in a patient with VHL. T2 weighted MRI at the same location demonstrates a high signal mass consistent with a paraganglioma. Extra adrenal paragangliomas can be found in VHL (arrow).
* S100 immunostain highlighting the sustentacular cells in a paraganglioma
* Digital subtraction arteriogram of carotid body tumor and jugular paraganglioma
## See also[edit]
* Gangliocytic paraganglioma
* Pheochromocytoma
## References[edit]
1. ^ Martins, Rute; Bugalho, Maria João (2014). "Paragangliomas/Pheochromocytomas: Clinically Oriented Genetic Testing". International Journal of Endocrinology. 2014: 794187. doi:10.1155/2014/794187. ISSN 1687-8337. PMC 4037125. PMID 24899893.
2. ^ Pheochromocytoma and Paraganglioma Treatment (PDQ®)—Patient Version - National Cancer Institute
3. ^ Bayley JP, Kunst HP, Cascon A, Sampietro ML, Gaal J, Korpershoek E, Hinojar-Gutierrez A, Timmers HJ, Hoefsloot LH, Hermsen MA, Suárez C, Hussain AK, Vriends AH, Hes FJ, Jansen JC, Tops CM, Corssmit EP, de Knijff P, Lenders JW, Cremers CW, Devilee P, Dinjens WN, de Krijger RR, Robledo M (April 2010). "SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma". The Lancet. Oncology. 11 (4): 366–72. doi:10.1016/S1470-2045(10)70007-3. PMID 20071235.
4. ^ Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL (March 2010). "Germline mutations in TMEM127 confer susceptibility to pheochromocytoma". Nature Genetics. 42 (3): 229–33. doi:10.1038/ng.533. PMC 2998199. PMID 20154675.
5. ^ Comino-Méndez I, Gracia-Aznárez FJ, Schiavi F, Landa I, Leandro-García LJ, Letón R, Honrado E, Ramos-Medina R, Caronia D, Pita G, Gómez-Graña A, de Cubas AA, Inglada-Pérez L, Maliszewska A, Taschin E, Bobisse S, Pica G, Loli P, Hernández-Lavado R, Díaz JA, Gómez-Morales M, González-Neira A, Roncador G, Rodríguez-Antona C, Benítez J, Mannelli M, Opocher G, Robledo M, Cascón A (June 2011). "Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma". Nature Genetics. 43 (7): 663–7. doi:10.1038/ng.861. PMID 21685915. S2CID 205357831.
6. ^ Buffet A, Morin A, Castro-Vega LJ, Habarou F, Lussey-Lepoutre C, Letouzé E, Lefebvre H, Guilhem I, Magalie H, Raingeard I, Padilla-Girola M, Tran T, Tchara L, Bertherat J, Amar L, Ottolenghi C, Burnichon N, Gimenez-Roqueplo AP, Favier J (February 2018). "Germline mutations in the mitochondrial 2-oxoglutarate/malate carrier SLC25A11 gene confer a predisposition to metastatic paragangliomas". Cancer Research. 78 (8): 1914–1922. doi:10.1158/0008-5472.CAN-17-2463. PMID 29431636.
7. ^ Kairi-Vassilatou E, Argeitis J, Nika H, Grapsa D, Smyrniotis V, Kondi-Pafiti A (2007). "Malignant paraganglioma of the urinary bladder in a 44-year-old female: clinicopathological and immunohistochemical study of a rare entity and literature review". European Journal of Gynaecological Oncology. 28 (2): 149–51. PMID 17479683.
8. ^ Sciacovelli, Marco; Schmidt, Christina; Maher, Eamonn R.; Frezza, Christian (2020). "Metabolic Drivers in Hereditary Cancer Syndromes". Annual Review of Cancer Biology. 4: 77–97. doi:10.1146/annurev-cancerbio-030419-033612.
9. ^ Feky, Mostafa Mahmoud El. "Aberrant internal carotid artery | Radiology Case | Radiopaedia.org". radiopaedia.org. Retrieved 2017-05-02.
10. ^ da Silva RA, Gross JL, Haddad FJ, Toledo CA, Younes RN (February 2006). "Primary pulmonary paraganglioma: case report and literature review". Clinics. 61 (1): 83–6. doi:10.1590/S1807-59322006000100015. PMID 16532231.
11. ^ Wick MR (March 2000). "Neuroendocrine neoplasia. Current concepts". American Journal of Clinical Pathology. 113 (3): 331–5. doi:10.1309/ETJ3-QBUK-13QD-J8FP. PMID 10705811.
12. ^ Carlsen CS, Godballe C, Krogdahl AS, Edal AL (December 2003). "Malignant vagal paraganglioma: report of a case treated with embolization and surgery". Auris, Nasus, Larynx. 30 (4): 443–6. doi:10.1016/S0385-8146(03)00066-X. PMID 14656575.
13. ^ Pitiakoudis M, Koukourakis M, Tsaroucha A, Manavis J, Polychronidis A, Simopoulos C (December 2004). "Malignant retroperitoneal paraganglioma treated with concurrent radiotherapy and chemotherapy". Clinical Oncology. 16 (8): 580–1. doi:10.1016/j.clon.2004.08.002. PMID 15630855.
## External links[edit]
* GeneReviews/NCBI/NIH/UW entry on Hereditary Paraganglioma-Pheochromocytoma Syndromes k
Classification
D
* ICD-10: C75.4, C75.5, D35.5, D35.6, D44.6, D44.7
* ICD-9-CM: 194.5, 194.6, 227.5, 227.6, 237.3
* ICD-O: M8680/0 \- M8693/9
* MeSH: D010235
* DiseasesDB: 33480
* SNOMED CT: 302833002
External resources
* eMedicine: med/2994
* 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
* 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]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Paraganglioma
|
c0030421
| 26,348 |
wikipedia
|
https://en.wikipedia.org/wiki/Paraganglioma
| 2021-01-18T18:57:02 |
{"mesh": ["D010235"], "umls": ["C0030421"], "icd-9": ["194.6", "227.6", "227.5", "237.3", "194.5"], "icd-10": ["D35.6", "C75.4", "D35.5", "D44.7", "C75.5", "D44.6"], "wikidata": ["Q581592"]}
|
Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.
## Epidemiology
It is a very rare condition with less than 1 case in every million births.
## Clinical description
Leprechaunism is associated with a characteristic dysmorphic facies (resembling that of the 'leprechauns' in Irish folk traditions), atrophic subcutaneous adipose tissue (lipoatrophy) and muscular hypotrophy. Signs of virilization are often observed in young girls. Biologically, episodes of hypo- and hyperglycemia are observed along with marked hyperinsulinemia due to an extreme resistance to insulin.
## Etiology
The syndrome is associated with homozygous or compound heterozygous mutations in the insulin receptor gene (INSR; 19p13.3-p13.2).
## Diagnostic methods
A positive diagnosis requires identification of one mutation in each allele of this gene.
## Differential diagnosis
The differential diagnosis should include the other forms of extreme insulin resistance.
## Genetic counseling
The disorder is transmitted as an autosomal recessive trait.
## Management and treatment
Treatment with recombinant insulin-like growth factor 1 (IGF1) may be considered. A combination treatment with insulin-like growth factor binding protein 3 (IGF-BP3) resulted in an increased lifespan in one case.
## Prognosis
Prognosis is uncertain, growth is severely affected and life expectancy rarely exceeds a few months.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Leprechaunism
|
c0265344
| 26,349 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=508
| 2021-01-23T18:03:20 |
{"gard": ["6885"], "mesh": ["D056731"], "omim": ["246200"], "umls": ["C0265344"], "icd-10": ["E34.8"], "synonyms": ["Donohue syndrome"]}
|
Subungual hematoma
Other namesRunner's toe, tennis toe, skier's toe
Subungual hematoma of a toe
SpecialtyEmergency medicine
A subungual hematoma is a collection of blood (hematoma) underneath a toenail or fingernail (black toenail). It can be extremely painful for an injury of its size, although otherwise it is not a serious medical condition.
## Contents
* 1 Nature
* 2 Causes
* 3 Treatment
* 4 See also
* 5 References
* 6 External links
## Nature[edit]
A laceration of the nail bed causes bleeding into the constricted area underneath the hard nail plate.[1] The blood pools under the nail, giving a reddish, brownish, blueish, or grey/blackish discoloration. The blood puts pressure on the nail. Throbbing pain is common.
Subungual hematomas typically heal without incident, though infection may occur. The pressure of the blood blister may cause separation of nail plate from the nail bed (onycholysis), but the nail should not be pulled off, as this can cause scarring of the nailbed and deformed nails.[2] Nail discolouration may last some months.[3]
The nail plate may also become thicker and more brittle as a result of the injury (onychochauxis). The deformed nail plate will gradually grow out and be replaced by new, normal-appearing nail plate in several months' time. Infrequently, the nail may become painful and require surgical drainage.[4]
## Causes[edit]
Right: Shoe is loose, slides. Center: Too little ease for foot to extend. Left: Proper fit
A foot which has lost a toenail, due to running injuries exacerbated by poorly-fitting shoes, badly-cut nails, and mild Morton's toe
The condition is caused by a traumatic injury, such as slamming a finger in a door,[5] or from sports activities, especially those involving sudden accelerations, such as soccer, basketball, and tennis, or going downhill, such as running or hiking rugged terrain,[6][better source needed] and ill-fitting footwear.[3][2][7]:52,135
Repeatedly thrusting the toes against a shoe's toe box can cause a subungual hematoma called jogger's toe[8] runner's toe, or black toenail. In a marathon, several percent of runners may be affected.[3] Wearing footwear which fits helps prevent runner's toe.[3]
If the shoe is too loose on the midfoot, the foot can slide forwards in the shoe, especially when going downhill. This may jam the toes into the end of the toebox.[3] If the foot is sliding forwards because the shoe is too loose around the midfoot, it may be restrained by lacing the shoe carefully, or placing bulky padding between the tongue and the lacing, or by wrapping a strap in a figure-eight around the foot and ankle (image).[7]:86–87,128,142 Excessively tight or uneven fit around the midfoot may, however, cause tendon problems.[7]:125[better source needed]
Separately, if there is not enough space around the toes, the toes will also hit the toebox repeatedly.[3] Feet become longer and wider when weight is put on them, because the arches flatten, and the toes also splay and bend.[7]:p15,18,72–73 At the end of a long journey on foot, the arches flatten, the metatarsals spread, and the foot swells more than after a short one.[7]:52 The toes also need vertical space; a toe cap which is low enough to press on the top of the toe may also cause bruising under the nail, especially if the toe cap is stiff. If the toebox is pointed, the toes may be wedged forwards into the area with inadequate height.[7]:52–53,135
Nails which protrude unevenly may concentrate force on the toenail; properly-cut nails are therefore also important.[3]
Some susceptible runners may also have Morton's toe. In this variant of human foot anatomy, the second toe extends further out than the great toe. This can make it harder to find shoes with adequate space around the toes.[citation needed]
## Treatment[edit]
Thumb before drainage
After drainage
Subungual hematomas can resolve on their own, without treatment being necessary.[3] If they are acutely painful,[9] they may be drained.[4]
Subungual hematomas are treated by either releasing the pressure conservatively, by drilling a hole through the nail into the hematoma (trephining) within 48 hours of injury,[4] or by removing the entire nail. Trephining is generally accomplished by using a heated instrument[10] to pass through the nail into the blood clot. Removal of the nail is typically done when the nail itself is disrupted, a large laceration requiring suturing is suspected, or a fracture of the tip of the finger occurs. Although general anesthesia is generally not required, a digital nerve block is recommended if the nail is to be removed.[citation needed] For trephination, the block is often more painful than the procedure.[4]
## See also[edit]
* List of cutaneous conditions
* Turf toe
## References[edit]
1. ^ Selbst SM, Attia M (2006). "Lacerations". Textbook Of Pediatric Emergency Medicine. Hagerstown, MD: Lippincott Williams & Wilkins. p. 1571. ISBN 978-0-7817-5074-5.
2. ^ a b "3 Tips to Protect Your Toenails If You're a Hard-Core Runner". Health Essentials from Cleveland Clinic. 3 December 2015.
3. ^ a b c d e f g h Mailler, EA; Adams, BB (August 2004). "The wear and tear of 26.2: dermatological injuries reported on marathon day". British Journal of Sports Medicine. 38 (4): 498–501. doi:10.1136/bjsm.2004.011874. PMC 1724877. PMID 15273194.
4. ^ a b c d Pingel, C; McDowell, C (January 2019). "Subungual Hematoma Drainage". Statpearls. PMID 29494114.
5. ^ "Subungual Hematoma: Care Instructions". myhealth.alberta.ca.
6. ^ "Subungual Hematoma: Causes, Symptoms, Pictures, Treatment, and More". Healthline.
7. ^ a b c d e f Munson, Edward Lyman (1912). The soldier's foot and the military shoe; a handbook for officers and noncommissioned officers of the line. Menasha, Wis.: Press of the George Banta publishing company. (this is the publication of a four-year review into the footwear of the US military by the Army Shoe Board, of which the author, a physician and senior officer of the United States Army Medical Corps, is president.
8. ^ Mailler, E A; Adams, BB (2004). "The wear and tear of 26.2: dermatological injuries reported on marathon day". British Journal of Sports Medicine. 38 (4): 498–501. doi:10.1136/bjsm.2004.011874. PMC 1724877. PMID 15273194.
9. ^ Dean, B; Becker, G; Little, C (2012). "The management of the acute traumatic subungual haematoma: a systematic review". Hand Surgery. 17 (1): 151–4. doi:10.1142/S021881041230001X. PMID 22351556.
10. ^ "Primary Care Procedures: Trephination of Subungual Hematoma". consultantlive. UBM Medica, LLC. Archived from the original on 21 August 2016. Retrieved 30 July 2016.
## External links[edit]
Classification
D
* ICD-10: L60.8 (ILDS L60.872)
* ICD-9-CM: 924.3, 923.3
External resources
* eMedicine: article/827104 article/82926
* v
* t
* e
Disorders of skin appendages
Nail
* thickness: Onychogryphosis
* Onychauxis
* color: Beau's lines
* Yellow nail syndrome
* Leukonychia
* Azure lunula
* shape: Koilonychia
* Nail clubbing
* behavior: Onychotillomania
* Onychophagia
* other: Ingrown nail
* Anonychia
* ungrouped: Paronychia
* Acute
* Chronic
* Chevron nail
* Congenital onychodysplasia of the index fingers
* Green nails
* Half and half nails
* Hangnail
* Hapalonychia
* Hook nail
* Ingrown nail
* Lichen planus of the nails
* Longitudinal erythronychia
* Malalignment of the nail plate
* Median nail dystrophy
* Mees' lines
* Melanonychia
* Muehrcke's lines
* Nail–patella syndrome
* Onychoatrophy
* Onycholysis
* Onychomadesis
* Onychomatricoma
* Onychomycosis
* Onychophosis
* Onychoptosis defluvium
* Onychorrhexis
* Onychoschizia
* Platonychia
* Pincer nails
* Plummer's nail
* Psoriatic nails
* Pterygium inversum unguis
* Pterygium unguis
* Purpura of the nail bed
* Racquet nail
* Red lunulae
* Shell nail syndrome
* Splinter hemorrhage
* Spotted lunulae
* Staining of the nail plate
* Stippled nails
* Subungual hematoma
* Terry's nails
* Twenty-nail dystrophy
Hair
Hair loss/
Baldness
* noncicatricial alopecia: Alopecia
* areata
* totalis
* universalis
* Ophiasis
* Androgenic alopecia (male-pattern baldness)
* Hypotrichosis
* Telogen effluvium
* Traction alopecia
* Lichen planopilaris
* Trichorrhexis nodosa
* Alopecia neoplastica
* Anagen effluvium
* Alopecia mucinosa
* cicatricial alopecia: Pseudopelade of Brocq
* Central centrifugal cicatricial alopecia
* Pressure alopecia
* Traumatic alopecia
* Tumor alopecia
* Hot comb alopecia
* Perifolliculitis capitis abscedens et suffodiens
* Graham-Little syndrome
* Folliculitis decalvans
* ungrouped: Triangular alopecia
* Frontal fibrosing alopecia
* Marie Unna hereditary hypotrichosis
Hypertrichosis
* Hirsutism
* Acquired
* localised
* generalised
* patterned
* Congenital
* generalised
* localised
* X-linked
* Prepubertal
Acneiform
eruption
Acne
* Acne vulgaris
* Acne conglobata
* Acne miliaris necrotica
* Tropical acne
* Infantile acne/Neonatal acne
* Excoriated acne
* Acne fulminans
* Acne medicamentosa (e.g., steroid acne)
* Halogen acne
* Iododerma
* Bromoderma
* Chloracne
* Oil acne
* Tar acne
* Acne cosmetica
* Occupational acne
* Acne aestivalis
* Acne keloidalis nuchae
* Acne mechanica
* Acne with facial edema
* Pomade acne
* Acne necrotica
* Blackhead
* Lupus miliaris disseminatus faciei
Rosacea
* Perioral dermatitis
* Granulomatous perioral dermatitis
* Phymatous rosacea
* Rhinophyma
* Blepharophyma
* Gnathophyma
* Metophyma
* Otophyma
* Papulopustular rosacea
* Lupoid rosacea
* Erythrotelangiectatic rosacea
* Glandular rosacea
* Gram-negative rosacea
* Steroid rosacea
* Ocular rosacea
* Persistent edema of rosacea
* Rosacea conglobata
* variants
* Periorificial dermatitis
* Pyoderma faciale
Ungrouped
* Granulomatous facial dermatitis
* Idiopathic facial aseptic granuloma
* Periorbital dermatitis
* SAPHO syndrome
Follicular cysts
* "Sebaceous cyst"
* Epidermoid cyst
* Trichilemmal cyst
* Steatocystoma
* simplex
* multiplex
* Milia
Inflammation
* Folliculitis
* Folliculitis nares perforans
* Tufted folliculitis
* Pseudofolliculitis barbae
* Hidradenitis
* Hidradenitis suppurativa
* Recurrent palmoplantar hidradenitis
* Neutrophilic eccrine hidradenitis
Ungrouped
* Acrokeratosis paraneoplastica of Bazex
* Acroosteolysis
* Bubble hair deformity
* Disseminate and recurrent infundibulofolliculitis
* Erosive pustular dermatitis of the scalp
* Erythromelanosis follicularis faciei et colli
* Hair casts
* Hair follicle nevus
* Intermittent hair–follicle dystrophy
* Keratosis pilaris atropicans
* Kinking hair
* Koenen's tumor
* Lichen planopilaris
* Lichen spinulosus
* Loose anagen syndrome
* Menkes kinky hair syndrome
* Monilethrix
* Parakeratosis pustulosa
* Pili (Pili annulati
* Pili bifurcati
* Pili multigemini
* Pili pseudoannulati
* Pili torti)
* Pityriasis amiantacea
* Plica neuropathica
* Poliosis
* Rubinstein–Taybi syndrome
* Setleis syndrome
* Traumatic anserine folliculosis
* Trichomegaly
* Trichomycosis axillaris
* Trichorrhexis (Trichorrhexis invaginata
* Trichorrhexis nodosa)
* Trichostasis spinulosa
* Uncombable hair syndrome
* Wooly hair nevus
Sweat
glands
Eccrine
* Miliaria
* Colloid milium
* Miliaria crystalline
* Miliaria profunda
* Miliaria pustulosa
* Miliaria rubra
* Occlusion miliaria
* Postmiliarial hypohidrosis
* Granulosis rubra nasi
* Ross’ syndrome
* Anhidrosis
* Hyperhidrosis
* Generalized
* Gustatory
* Palmoplantar
Apocrine
* Body odor
* Chromhidrosis
* Fox–Fordyce disease
Sebaceous
* Sebaceous hyperplasia
* v
* t
* e
General wounds and injuries
Abrasions
* Abrasion
* Avulsion
Blisters
* Blood blister
* Coma blister
* Delayed blister
* Edema blister
* Fracture blister
* Friction blister
* Sucking blister
Bruises
* Hematoma/Ecchymosis
* Battle's sign
* Raccoon eyes
* Black eye
* Subungual hematoma
* Cullen's sign
* Grey Turner's sign
* Retroperitoneal hemorrhage
Animal bites
* Insect bite
* Spider bite
* Snakebite
Other:
* Ballistic trauma
* Stab wound
* Blunt trauma/superficial/closed
* Penetrating trauma/open
* Aerosol burn
* Burn/Corrosion/Chemical burn
* Frostbite
* Occupational injuries
* Traumatic amputation
By region
* Hand injury
* Head injury
* Chest trauma
* Abdominal trauma
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Subungual hematoma
|
c0474975
| 26,350 |
wikipedia
|
https://en.wikipedia.org/wiki/Subungual_hematoma
| 2021-01-18T19:05:18 |
{"icd-9": ["924.3", "923.3"], "icd-10": ["L60.8"], "wikidata": ["Q3029644"]}
|
Sporotrichosis
Other namesRose gardener's disease[1]
Cytologic preparation from a case of feline sporotrichosis; phagocytic cells show numerous variably-shaped yeast forms within
SpecialtyInfectious disease
Sporotrichosis is a disease caused by the infection of the fungus Sporothrix schenckii.[2] This fungal disease usually affects the skin, although other rare forms can affect the lungs, joints, bones, and even the brain. Because roses can spread the disease, it is one of a few diseases referred to as rose-thorn or rose-gardeners' disease.[3] The species was named for Benjamin Schenck, a medical student who in 1896 was the first to isolate it from a human specimen.[4]
Because S. schenckii is naturally found in soil, hay, sphagnum moss, and plants, it usually affects farmers, gardeners, and agricultural workers.[2] It enters through small cuts and abrasions in the skin to cause the infection. In case of sporotrichosis affecting the lungs, the fungal spores enter through the respiratory pathways. Sporotrichosis can also be acquired from handling cats with the disease; it is an occupational hazard for veterinarians.
Sporotrichosis progresses slowly – the first symptoms may appear 1 to 12 weeks (average 3 weeks) after the initial exposure to the fungus. Serious complications can also develop in patients who have a compromised immune system.
## Contents
* 1 Signs and symptoms
* 1.1 Complications
* 2 Diagnosis
* 3 Prevention
* 4 Treatment
* 5 Other animals
* 6 See also
* 7 References
* 8 External links
## Signs and symptoms[edit]
* Cutaneous or skin sporotrichosis
This is the most common form of this disease. Symptoms of this form include nodular lesions or bumps in the skin, at the point of entry and also along lymph nodes and vessels. The lesion starts off small and painless, and ranges in color from pink to purple. Left untreated, the lesion becomes larger and look similar to a boil and more lesions will appear, until a chronic ulcer develops.
Usually, cutaneous sporotrichosis lesions occur in the finger, hand, and arm.
* Pulmonary sporotrichosis
This rare form of the disease occur when S. schenckii spores are inhaled. Symptoms of pulmonary sporotrichosis include productive coughing, nodules and cavitations of the lungs, fibrosis, and swollen hilar lymph nodes. Patients with this form of sporotrichosis are susceptible to developing tuberculosis and pneumonia
* Disseminated sporotrichosis
When the infection spreads from the primary site to secondary sites in the body, the disease develops into a rare and critical form called disseminated sporotrichosis. The infection can spread to joints and bones (called osteoarticular sporotrichosis) as well as the central nervous system and the brain (called sporotrichosis meningitis).
The symptoms of disseminated sporotrichosis include weight loss, anorexia, and appearance of bony lesions.
### Complications[edit]
Cutaneous lesions can become superinfected with bacteria, resulting in cellulitis.
## Diagnosis[edit]
Conidiophores and conidia of the fungus Sporothrix schenckii
Sporotrichosis is a chronic disease with slow progression and often subtle symptoms. It is difficult to diagnose, as many other diseases share similar symptoms and therefore must be ruled out.
Patients with sporotrichosis will have antibody against the fungus S. schenckii, however, due to variability in sensitivity and specificity, it may not be a reliable diagnosis for this disease. The confirming diagnosis remains culturing the fungus from the skin, sputum, synovial fluid, and cerebrospinal fluid. Smears should be taken from the draining tracts and ulcers.
Cats with sporotrichosis are unique in that the exudate from their lesions may contain numerous organisms. This makes cytological evaluation of exudate a valuable diagnostic tool in this species. Exudate is pyogranulomatous and phagocytic cells may be packed with yeast forms. These are variable in size, but many are cigar-shaped.
## Prevention[edit]
The majority of sporotrichosis cases occur when the fungus is introduced through a cut or puncture in the skin while handling vegetation containing the fungal spores. Prevention of this disease includes wearing long sleeves and gloves while working with soil, hay bales, rose bushes, pine seedlings, and sphagnum moss. Also, keeping cats indoors is a preventative measure.
## Treatment[edit]
Treatment of sporotrichosis depends on the severity and location of the disease. The following are treatment options for this condition:[5]
* Oral potassium iodide
Potassium iodide is an anti-fungal drug that is widely used as a treatment for cutaneous sporotrichosis. Despite its wide use, there is no high-quality evidence for or against this practice. Further studies are needed to assess the efficacy and safety of oral potassium iodide in the treatment of sporotrichosis.[6]
* Itraconazole (Sporanox) and fluconazole
These are antifungal drugs. Itraconazole is currently the drug of choice and is significantly more effective than fluconazole. Fluconazole should be reserved for patients who cannot tolerate itraconazole.
* Amphotericin B
This antifungal medication is delivered intravenously. Many patients, however, cannot tolerate Amphotericin B due to its potential side effects of fever, nausea, and vomiting.
Lipid formulations of amphotericin B are usually recommended instead of amphotericin B deoxycholate because of a better adverse-effect profile. Amphotericin B can be used for severe infection during pregnancy. For children with disseminated or severe disease, amphotericin B deoxycholate can be used initially, followed by itraconazole.[7]
In case of sporotrichosis meningitis, the patient may be given a combination of Amphotericin B and 5-fluorocytosine/Flucytosine.
* Terbinafine
500mg and 1000mg daily dosages of terbinafine for twelve to 24 weeks has been used to treat cutaneous sporotrichosis.[8]
* Newer triazoles
Several studies have shown that posaconazole has in vitro activity similar to that of amphotericin B and itraconazole; therefore, it shows promise as an alternative therapy. However, voriconazole susceptibility varies. Because the correlation between in vitro data and clinical response has not been demonstrated, there is insufficient evidence to recommend either posaconazole or voriconazole for treatment of sporotrichosis at this time.[7]
* Surgery
In cases of bone infection and cavitary nodules in the lungs, surgery may be necessary.
* Heat therapy
Heat creates higher tissue temperatures, which may inhibit fungus growth while the immune system counteracts the infection. The "pocket warmer" used for this purpose has the advantage of being able to maintain a constant temperature of 44 degrees-45 degrees C on the skin surface for several hours, while permitting unrestricted freedom of movement. The duration of treatment depends on the type of lesion, location, depth, and size. Generally, local application for 1-2 h per day, or in sleep time, for 5-6 weeks seems to be sufficient.[9]
## Other animals[edit]
Ulcerative skin disease in a cat with Sporotrichosis; a cat with this disease must be handled with caution as this form can be contagious to other animals and to humans
Sporotrichosis can be diagnosed in domestic and wild mammals. In veterinary medicine it is most frequently seen in cats and horses. Cats have a particularly severe form of cutaneous sporotrichosis and also can serve as a source of zoonotic infection to persons who handle them and are exposed to exudate from skin lesions.[10]
## See also[edit]
* Mucormycosis
* List of cutaneous conditions
## References[edit]
1. ^ Rapini RP, Bolognia JL, Jorizzo JL (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
2. ^ a b Ryan KJ, Ray CG, eds. (2004). Sherris Medical Microbiology (4th ed.). McGraw Hill. pp. 654–6. ISBN 978-0-8385-8529-0.
3. ^ Volk T (February 2003). "Sporothrix schenckii, cause of Rose-picker's Disease". Tom Volk's Fungus of the Month.
4. ^ Barros MB, de Almeida Paes R, Schubach AO (October 2011). "Sporothrix schenckii and Sporotrichosis". Clinical Microbiology Reviews. 24 (4): 633–54. doi:10.1128/CMR.00007-11. PMC 3194828. PMID 21976602.
5. ^ Lortholary O, Denning DW, Dupont B (March 1999). "Endemic mycoses: a treatment update". The Journal of Antimicrobial Chemotherapy. 43 (3): 321–31. doi:10.1093/jac/43.3.321. PMID 10223586.
6. ^ Xue S, Gu R, Wu T, Zhang M, Wang X (October 2009). "Oral potassium iodide for the treatment of sporotrichosis". The Cochrane Database of Systematic Reviews (4): CD006136. doi:10.1002/14651858.CD006136.pub2. PMC 7388325. PMID 19821356.
7. ^ a b Hogan BK, Hospenthal DR (March 2011). "Update on the therapy for sporotrichosis". Patient Care. 22: 49–52.
8. ^ Chapman SW, Pappas P, Kauffmann C, Smith EB, Dietze R, Tiraboschi-Foss N, Restrepo A, Bustamante AB, Opper C, Emady-Azar S, Bakshi R (February 2004). "Comparative evaluation of the efficacy and safety of two doses of terbinafine (500 and 1000 mg day(-1)) in the treatment of cutaneous or lymphocutaneous sporotrichosis". Mycoses. 47 (1–2): 62–8. doi:10.1046/j.1439-0507.2003.00953.x. PMID 14998402.
9. ^ Takahashi S, Masahashi T, Maie O (October 1981). "[Local thermotherapy in sporotrichosis]". Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und Verwandte Gebiete (in German). 32 (10): 525–8. PMID 7298332.
10. ^ "Sporotrichosis". The Merck Veterinary Manual. Retrieved 2019-06-17.
## External links[edit]
Classification
D
* ICD-10: B42
* ICD-9-CM: 117.1
* MeSH: D013174
* DiseasesDB: 29797
External resources
* MedlinePlus: 001338
* eMedicine: med/2161 derm/400
* Sporotrichosis by Health in Plain English (with pictures)
* Sporotrichosis by Centers for Disease Control and Prevention (CDC)
* v
* t
* e
Fungal infection and mesomycetozoea
Superficial and
cutaneous
(dermatomycosis):
Tinea = skin;
Piedra (exothrix/
endothrix) = hair
Ascomycota
Dermatophyte
(Dermatophytosis)
By location
* Tinea barbae/tinea capitis
* Kerion
* Tinea corporis
* Ringworm
* Dermatophytids
* Tinea cruris
* Tinea manuum
* Tinea pedis (athlete's foot)
* Tinea unguium/onychomycosis
* White superficial onychomycosis
* Distal subungual onychomycosis
* Proximal subungual onychomycosis
* Tinea corporis gladiatorum
* Tinea faciei
* Tinea imbricata
* Tinea incognito
* Favus
By organism
* Epidermophyton floccosum
* Microsporum canis
* Microsporum audouinii
* Trichophyton interdigitale/mentagrophytes
* Trichophyton tonsurans
* Trichophyton schoenleini
* Trichophyton rubrum
* Trichophyton verrucosum
Other
* Hortaea werneckii
* Tinea nigra
* Piedraia hortae
* Black piedra
Basidiomycota
* Malassezia furfur
* Tinea versicolor
* Pityrosporum folliculitis
* Trichosporon
* White piedra
Subcutaneous,
systemic,
and opportunistic
Ascomycota
Dimorphic
(yeast+mold)
Onygenales
* Coccidioides immitis/Coccidioides posadasii
* Coccidioidomycosis
* Disseminated coccidioidomycosis
* Primary cutaneous coccidioidomycosis. Primary pulmonary coccidioidomycosis
* Histoplasma capsulatum
* Histoplasmosis
* Primary cutaneous histoplasmosis
* Primary pulmonary histoplasmosis
* Progressive disseminated histoplasmosis
* Histoplasma duboisii
* African histoplasmosis
* Lacazia loboi
* Lobomycosis
* Paracoccidioides brasiliensis
* Paracoccidioidomycosis
Other
* Blastomyces dermatitidis
* Blastomycosis
* North American blastomycosis
* South American blastomycosis
* Sporothrix schenckii
* Sporotrichosis
* Talaromyces marneffei
* Talaromycosis
Yeast-like
* Candida albicans
* Candidiasis
* Oral
* Esophageal
* Vulvovaginal
* Chronic mucocutaneous
* Antibiotic candidiasis
* Candidal intertrigo
* Candidal onychomycosis
* Candidal paronychia
* Candidid
* Diaper candidiasis
* Congenital cutaneous candidiasis
* Perianal candidiasis
* Systemic candidiasis
* Erosio interdigitalis blastomycetica
* C. auris
* C. glabrata
* C. lusitaniae
* C. tropicalis
* Pneumocystis jirovecii
* Pneumocystosis
* Pneumocystis pneumonia
Mold-like
* Aspergillus
* Aspergillosis
* Aspergilloma
* Allergic bronchopulmonary aspergillosis
* Primary cutaneous aspergillosis
* Exophiala jeanselmei
* Eumycetoma
* Fonsecaea pedrosoi/Fonsecaea compacta/Phialophora verrucosa
* Chromoblastomycosis
* Geotrichum candidum
* Geotrichosis
* Pseudallescheria boydii
* Allescheriasis
Basidiomycota
* Cryptococcus neoformans
* Cryptococcosis
* Trichosporon spp
* Trichosporonosis
Zygomycota
(Zygomycosis)
Mucorales
(Mucormycosis)
* Rhizopus oryzae
* Mucor indicus
* Lichtheimia corymbifera
* Syncephalastrum racemosum
* Apophysomyces variabilis
Entomophthorales
(Entomophthoramycosis)
* Basidiobolus ranarum
* Basidiobolomycosis
* Conidiobolus coronatus/Conidiobolus incongruus
* Conidiobolomycosis
Microsporidia
(Microsporidiosis)
* Enterocytozoon bieneusi/Encephalitozoon intestinalis
Mesomycetozoea
* Rhinosporidium seeberi
* Rhinosporidiosis
Ungrouped
* Alternariosis
* Fungal folliculitis
* Fusarium
* Fusariosis
* Granuloma gluteale infantum
* Hyalohyphomycosis
* Otomycosis
* Phaeohyphomycosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Sporotrichosis
|
c0038034
| 26,351 |
wikipedia
|
https://en.wikipedia.org/wiki/Sporotrichosis
| 2021-01-18T18:53:00 |
{"gard": ["7692"], "mesh": ["D013174"], "umls": ["C0038034"], "orphanet": ["826"], "wikidata": ["Q767327"]}
|
A number sign (#) is used with this entry because of evidence that D-glyceric aciduria is caused by homozygous mutation in the GLYCTK gene (610516) on chromosome 3p21.
Description
D-glyceric aciduria is a rare autosomal recessive metabolic disorder with a highly variable phenotype. Some patients have an encephalopathic presentation, with severe mental retardation, seizures, microcephaly, and sometimes early death, whereas others have a mild phenotype with only mild speech delay or even normal development (summary by Sass et al., 2010).
Clinical Features
In the son of nonconsanguineous Serbian parents, Brandt et al. (1974, 1976) described nonketotic hyperglycinemia with the excretion of D-glyceric acid in the urine and the presence of this substance in the serum. Clinical features included neonatal hypotonia, delayed psychomotor development, mental retardation, and seizures. He died at age 3.5 years (Duran et al., 1987; Sass et al., 2010). Brandt et al. (1974) suggested that the large amounts of glycine found in bodily fluids were secondary to a hitherto undescribed enzymatic defect in the degradation of D-glyceric acid. Kolvraa et al. (1976) found that D-glyceric dehydrogenase activity in blood leukocytes was low. They suggested that accumulation of glycine was secondary to the organic acidemia. In the Serbian patient originally reported by Brandt et al. (1974), Sass et al. (2010) identified a homozygous frameshift mutation in the GLYCTK gene (610516.0001). The finding of increased glycine in this patient had been considered to be secondary to the GLYCTK defect. However, Swanson et al. (2017) identified a homozygous missense mutation in the AMT gene (S117L; 238310.0009) in cells derived from this patient, consistent with a diagnosis of glycine encephalopathy (GCE; 605899). The finding confirmed the unusual cooccurrence of 2 inborn errors of metabolism in this patient. In vitro functional expression studies showed that the S117S mutant AMT protein was unstable and had only 9% residual enzymatic activity compared to controls. Swanson et al. (2017) concluded that D-glyceric aciduria does not cause deficient glycine cleavage enzyme activity or nonketotic hyperglycinemia.
Bonham et al. (1990) reported a consanguineous Asian family in which 4 sibs showed variable manifestations of D-glutaric aciduria. Two sibs had microcephaly and mild speech delay, but the other 2 were completely healthy at ages 9 and 7 years, respectively. All attended normal schools. Biochemical studies of 2 patients showed increased D-glutaric acid excretion after both serine and fructose oral loading. The levels of serum D-glutaric acid were similar to those reported in other cases, and Bonham et al. (1990) was unable to explain the mild clinical presentation in their family.
Largilliere et al. (1991) reported a girl, born of consanguineous Turkish parents, who presented at age 8 months with poor growth and delayed psychomotor development. She had microcephaly, axial hypotonia, limb spasticity, and elevated levels of D-glyceric acid in urine, plasma, and CSF. She subsequently developed seizures and had episodes of hypertonia and opisthotonus. At age 3 years, she had severe spastic tetraplegia and encephalopathy. Biochemical studies showed an increase in D-glyceric acid levels after serine loading, and after fructose loading in the fed condition. Largilliere et al. (1991) considered that direct toxicity of D-glyceric acid was unlikely because of the clinical heterogeneity among reported patients.
Topcu et al. (2002) reported a 6-month-old boy, born of consanguineous Turkish parents, who presented with unresponsiveness and episodic jerky movements. He had poor eye contact, autistic behavior with head rocking movements, hypotonia, and hyperactive reflexes. EEG showed hypsarrhythmia, consistent with West syndrome. Laboratory studies at age 11 months showed D-glyceric aciduria. Brain MRI at age 16 months showed focal hyperintense areas in the periventricular and subcortical white matter, cerebral atrophy, and delayed myelination. There were also reversible abnormalities in the mesencephalon, thalami, and globus pallidum, which resolved after fructose restriction in the diet. Over the next few years, he continued to have seizures and showed severe motor and mental retardation. He also developed sensorineural hearing loss.
Sass et al. (2010) reported 2 unrelated infants with D-glyceric aciduria. A female infant was born prematurely of a Mexican mother and had multiple problems due to prematurity, including neonatal respiratory distress syndrome. She also had optic nerve hypoplasia, severe failure to thrive, microcephaly, and seizures. Brain MRI showed delayed myelination, and neurologic examination revealed hypotonia, spasticity, severe mental retardation, and refractory tonic-clonic seizures. A male infant, born of consanguineous Turkish parents, had recurrent episodic hypoglycemia beginning soon after birth, which was found to be due to combined pituitary hormone deficiency-5 (CPHD5; 182230) resulting from a homozygous mutation in the HESX1 gene (601802). Further laboratory studies showed increased urinary D-glyceric acid without oxalic aciduria.
Biochemical Features
Using a new, sensitive radiochemical assay, Van Schaftingen (1989) demonstrated that D-glycerate kinase (610516) was extremely unstable in extracts of liver prepared in water but was partially stabilized in a homogenization mixture containing inorganic phosphate, D-glycerate, and EGTA. In the liver of a patient with this disorder, glycerate kinase activity was less than 5% of normal. In contrast, D-glycerate dehydrogenase (glyoxylate reductase) and triokinase activities were not deficient in the liver of the same patient. Van Schaftingen (1991) suggested that D-glycerate kinase deficiency is a cause (and perhaps the only cause) of D-glyceric aciduria.
Molecular Genetics
In 3 unrelated patients with D-glyceric aciduria, Sass et al. (2010) identified 3 different homozygous loss of function mutations in the GLYCTK gene (610516.0001-610516.0003). One of the patients was the Serbian boy previously reported by Brandt et al. (1974).
INHERITANCE \- Autosomal recessive GROWTH Other \- Poor growth \- Failure to thrive HEAD & NECK Head \- Microcephaly Ears \- Hearing loss, sensorineural (1 patient) MUSCLE, SOFT TISSUES \- Hypotonia, neonatal NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Mental retardation \- Axial hypotonia \- Limb spasticity \- Hyperreflexia \- Spastic tetraplegia \- Seizures, refractory \- Opisthotonus \- Myoclonic jerks \- Encephalopathy \- Hypsarrhythmia \- Cortical atrophy \- Periventricular and subcortical white matter abnormalities \- Delayed myelination Behavioral Psychiatric Manifestations \- Autistic features (1 patient) METABOLIC FEATURES \- Metabolic acidosis LABORATORY ABNORMALITIES \- Increased D-glyceric acid in serum, urine, and CSF MISCELLANEOUS \- Highly variable phenotype \- Some patients have no or mild manifestations and normal development \- Onset at birth or in infancy MOLECULAR BASIS \- Caused by mutation in the glycerate kinase gene (GLYCTK, 610516.0001 ) ▲ 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
D-GLYCERIC ACIDURIA
|
c1291386
| 26,352 |
omim
|
https://www.omim.org/entry/220120
| 2019-09-22T16:29:00 |
{"mesh": ["C535767"], "omim": ["220120"], "orphanet": ["941"], "synonyms": ["Alternative titles", "D-GLYCERIC ACIDEMIA", "GLYCERATE KINASE DEFICIENCY"]}
|
Warsaw breakage syndrome is a condition that can cause multiple abnormalities. People with Warsaw breakage syndrome have intellectual disability that varies from mild to severe. They also have impaired growth from birth leading to short stature and a small head size (microcephaly). Affected individuals have distinctive facial features that may include a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks. Other common features include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) and heart malformations.
## Frequency
Warsaw breakage syndrome is a rare condition; at least four cases have been described in the medical literature.
## Causes
Mutations in the DDX11 gene cause Warsaw breakage syndrome. The DDX11 gene provides instructions for making an enzyme called ChlR1. This enzyme functions as a helicase. Helicases are enzymes that attach (bind) to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division, and for repairing damaged DNA and any errors that are made when DNA is copied. In addition, after DNA is copied, ChlR1 plays a role in ensuring proper separation of each chromosome during cell division. By helping repair errors in DNA and ensuring proper DNA replication, the ChlR1 enzyme is involved in maintaining the stability of a cell's genetic information.
DDX11 gene mutations severely reduce or completely eliminate ChlR1 enzyme activity. As a result, the enzyme cannot bind to DNA and cannot unwind the DNA strands to help with DNA replication and repair. A lack of functional ChlR1 impairs cell division and leads to an accumulation of DNA damage. This DNA damage can appear as breaks in the DNA, giving the condition its name. It is unclear how these problems in DNA maintenance lead to the specific abnormalities characteristic of Warsaw breakage syndrome.
### Learn more about the gene associated with Warsaw breakage syndrome
* DDX11
## 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Warsaw breakage syndrome
|
c3150658
| 26,353 |
medlineplus
|
https://medlineplus.gov/genetics/condition/warsaw-breakage-syndrome/
| 2021-01-27T08:24:40 |
{"gard": ["13708"], "omim": ["613398"], "synonyms": []}
|
Clonal hypereosinophilia, also termed primary hypereosinophilia or clonal eosinophilia, is a grouping of hematological disorders all of which are characterized by the development and growth of a pre-malignant or malignant population of eosinophils, a type of white blood cell that occupies the bone marrow, blood, and other tissues. This population consists of a clone of eosinophils, i.e. a group of genetically identical eosinophils derived from a sufficiently mutated ancestor cell.[1]
The clone of eosinophils bear a mutation in any one of several genes that code for proteins that regulate cell growth. The mutations cause these proteins to be continuously active and thereby to stimulate growth in an uncontrolled and continuous manner. The expanding population of eosinophils initially formed in the bone marrow may spread to the blood and then enter into and injure various tissues and organs.[1]
Clinically, clonal eosinophilia resembles various types of chronic or acute leukemias, lymphomas, or myeloproliferative hematological malignancies. However, many of the clonal hypereosinophilias are distinguished from these other hematological malignancies by the genetic mutations which underlie their development and, more importantly, by their susceptibility to specific treatment regiments. That is, many types of these disorders are remarkably susceptible to relatively non-toxic drugs.[1][2]
## Contents
* 1 Background
* 2 Genetics, clinical presentation, and treatment
* 2.1 World Health Organization-identified clonal hypereosinophilias
* 2.1.1 PDGFRA-associated eosinophilic neoplasms
* 2.1.1.1 Genetics
* 2.1.1.2 Clinical presentation and treatment
* 2.1.2 PDGFRB-associated eosinophilic neoplasms
* 2.1.2.1 Genetics
* 2.1.2.2 Clinical presentation and treatment
* 2.1.3 FGFR1-associated eosinophilic neoplasms
* 2.1.3.1 Genetics
* 2.1.3.2 Clinical presentation and treatment
* 2.1.4 PCM1-JAK2 -associated eosinophilic neoplasms
* 2.1.4.1 Genetics
* 2.1.4.2 Clinical presentation and treatment
* 2.2 Other clonal hypereosinophilias
* 2.2.1 Other JAK2-related eosinophilias
* 2.2.1.1 Genetics
* 2.2.1.2 Clinical presentation and treatment
* 2.2.2 ABL1-related eosinophilias
* 2.2.2.1 Genetics
* 2.2.2.2 Clinical presentation and treatment
* 2.2.3 FLT3-related eosinophilias
* 2.2.3.1 Genetics
* 2.2.3.2 Clinical presentation and treatment
* 2.2.4 ETV6-ACSL6-related eosinophilias
* 2.2.4.1 Genetics
* 2.2.4.2 Clinical presentation and treatment
* 3 Eosinophilia associated with other hematological diseases
* 4 References
## Background[edit]
Hematopoietic stem cells give rise to: 1) myeloid precursor cells that differentiate into red blood cells, mast cells, blood platelet-forming megakaryocytes, or myeloblasts, which latter cells subsequently differentiate into white blood cells viz., neutrophils, basophils, monocytes, and eosinophils; or 2) lymphoid precursor cells which differentiate into T lymphocytes, B lymphocytes, or natural killer cells. Malignant transformation of these stem or precursor cells results in the development of various hematological malignancies. Some of these transformations involve chromosomal translocations or Interstitial deletions that create fusion genes. These fusion genes encode fusion proteins that continuously stimulate cell growth, proliferation, prolonged survival, and/or differentiation. Such mutations occur in hematological stem cells and/or their daughter myeloid precursor and lymphoid precursor cells; commonly involve genes that encode tyrosine kinase proteins; and cause or contribute to the development of hematological malignancies. A classic example of such a disease is chronic myelogenous leukemia, a neoplasm commonly caused by a mutation that creates the BCR-ABL1 fusion gene (see Philadelphia chromosome). The disease is due to conversion of the tightly regulated tyrosine kinase of ABL1 protein to being unregulated and continuously active in the BCR-ABL1 fusion protein. This Philadelphia chromosome positive form of chronic myelogenous leukemia used to be treated with chemotherapy but nonetheless was regarded as becoming lethal within 18-60 months of diagnosis. With the discovery of the uncontrolled tyrosine kinase activity of this disorder and the use of tyrosine kinase inhibitors. Philadelphia chromosome positive chronic myelogenous leukemia is now successfully treated with maintenance tyrosine kinase inhibiting drugs to achieve its long-term suppression.
Some hematological malignancies exhibit increased numbers of circulating blood eosinophils, increased numbers of bone marrow eosinophils, and/or eosinophil infiltrations into otherwise normal tissues. These malignancies were at first diagnosed as eosinophilia, hypereosinophilia, acute eosinophilic leukemia, chronic eosinophilic leukemia, other myeloid leukemias, myeloproliferative neoplasm, myeloid sarcoma, lymphoid leukemia, or non-Hodgkin lymphomas. Based on their association with eosinophils, unique genetic mutations, and known or potential sensitivity to tyrosine kinase inhibitors or other specific drug therapies, they are now in the process of being classified together under the term clonal hypereosinophilia or clonal eosinophilia. Historically, patients suffering the cited eosinophil-related syndromes were evaluated for causes of their eosinophilia such as those due to allergic disease, parasite or fungal infection, autoimmune disorders, and various well-known hematological malignancies (e.g. Chronic myelogenous leukemia, systemic mastocytosis, etc.) (see causes of eosinophilia). Absent these causes, patients were diagnosed in the World Health Organization's classification as having either 1) Chronic eosinophilic leukemia, not otherwise specified, (CEL-NOS) if blood or bone marrow blast cells exceeded 2% or 5% of total nucleated cells, respectively, and other criteria were met or 2) idiopathic hypereosinophilic syndrome (HES) if there was evidence of eosinophil-induced tissue damage but no criteria indicating chronic eosinophilic leukemia. Discovery of genetic mutations underlining these eosinophilia syndromes lead to their removal from CEL-NOS or HES categories and classification as myeloid and lymphoid neoplasms associated with eosinophilia and abnormalities of PDGFRA, PDGFRB, FGFR1, and, tentatively, PCMA-JAK2. Informally, these diseases are also termed clonal hypereosinophilias. New genetic mutations associated with, and possibly contributing to the development of, eosinophilia have been discovered, deemed to be causes of clonal eosinophilia, and, in certain cases, recommended for inclusion in the category of myeloid and lymphoid neoplasms associated with eosinophilia and abnormalities of PDGFRA, PDGFRB, FGFR1, and, tentatively, PCMA-JAK2.[1][2] Many of the genetic causes for clonal eosinophilia are rare but nonetheless merit attention because of their known or potential sensitivity to therapeutic interventions that differ dramatically form the often toxic chemotherapy used to treat more common hematological malignancies.
## Genetics, clinical presentation, and treatment[edit]
Clonal hypereosinophilia derives from Germline mutations in genes that are involved in the development and/or maturation of hematopoietic stem cells and/or their myeloid or lymphoid descendants. In general, these mutations cause the mutated genes to form protein products that, unlike their natural counterparts, are less susceptible to inhibition: the mutant proteins continuously stimulate precursor cells to grow and proliferate while failing to differentiate and therefore result in, or at least are associated with, malignancies which have features dominated by myeloid, lymphoid, or both types of hematological malignancies. In most but not all instances, the resulting malignancies are associated with increases in blood, bone marrow, and/or tissue eosinophil levels as well as one or more of the signs, symptoms, tissue injuries, and organ dysfunctions (e.g. eosinophilic myocarditis) associated with the hypereosinophilic syndrome. The World Health Organization in 2015 included in their classification of eosinophilia disorders the category "Myeloid and lymphoid neoplasms associated with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1" genes.[3] This was updated in 2016 to include a provisional entity, a specific translocation mutation of the JAK2 gene that forms the PCM1-JAK2 fusion gene.[4] These mutation-associated eosinophilic neoplasms as well as some recently discovered mutations that give rise clonal hypereosinophilias are described in the following sections.
### World Health Organization-identified clonal hypereosinophilias[edit]
#### PDGFRA-associated eosinophilic neoplasms[edit]
Main article: PDGFRA § Myeloid and lymphoid cells
Main article: FIP1L1 § FIP1L1-PDGFRA fusion genes
##### Genetics[edit]
PDGFRA-associated eosinophilic neoplasms are the most common forms of clonal eosinophilia, accounting for some 40% to 50% of all cases.[5] The PDGFRA gene encodes the platelet-derived growth factor receptor A (PDGFRA) which is a cell surface, RTK class III Receptor tyrosine kinase. PDGFRA, through its tyrosine kinase activity, contributes to the growth, differentiation, and proliferation of cells. Chromosome translocations between the PDGFRA gene and either the FIP1L1, KIF5B, CDK5RAP2, STRN, ETV6, FOXP1, TNKS2, BCR or JAK2 gene create a fusion gene which codes for a chimeric protein consisting of the tyrosine kinase portion of PDGFRA and a portion of these other genes. The fusion protein has uninhibited tyrosine kinase activity and thereby is continuously active in stimulating cell growth, prolonged survival (by in inhibiting cell death), and proliferation.[1][6][7][8]
##### Clinical presentation and treatment[edit]
Patients with the cited PDGFRA fusion genes are overwhelmingly male (30:1 male to female ratio).[5] They may present with cutaneous and/or pulmonary allergic symptoms, mucosal ulcers, splenomegaly, current or history of thrombosis events, and the most serious complication, cardiac dysfunction, which occurs in 20% to 30% of patients.[5] The serious complications of eosinophilic myocarditis causing heart failure and arrhythmia and the pathological formation of blood clots causing the occlusion of diverse blood vessels occur often in, and may be part of the presentation of, this clonal eosinophilia.[9] Patient laboratory findings are compatible with the findings seen in a) eosinophilia, hypereosinophilia, the hypereosinophilic syndrome, chronic eosinophilic leukemia, or acute eosinophilic leukemia; b) myeloproliferative neoplasm/myeloblastic leukemia associated with little or no eosinophilia; c) T-lymphoblastic leukemia/lymphoma associated with eosinophilia; d) myeloid sarcoma associated with eosinophilia (see FIP1L1-PDGFRA fusion genes); or e) combinations of these presentations. Variations in the type of malignancy formed likely reflect the specific type(s) of hematopoietic precursor cells that bear the mutation.[1][3][6]
PDGFRA fusion gene-induced diseases generally respond well to the first line treatment drug, tyrosine kinase inhibitor, imatinib.[1][3][6] If no hematological response is observed within 4 weeks of imitinib, primary resistance should be considered. This resistance is linked to the occurrence of a S601P mutation in PDGFRA. Acquired resistance to imatinib have in most cases been in association with the T674I mutation of FIP1L1-PDGFRA. Second generation tyrosine kinase inhibitors, e.g. bosutinib, sorafenib, and nilotinib, show little success in treating T674I FIP1L-PDGFRA mutations leaving allogeneic stem cell transplantation as the treatment of choice for patients suffering such mutations. Third generation tyrosine kinase inhibitors with in vivo efficacy for inhibiting PDGFRA kinase activity are in development.[10]
#### PDGFRB-associated eosinophilic neoplasms[edit]
Main article: PDGFRB § PDGFRB-ETV6 translocations
Main article: PDGFRB § Other PDGFRB translocations
##### Genetics[edit]
The PDGFRB gene encodes the platelet-derived growth factor receptor B (PDGFRB) which, like PDGFRA, is a cell surface, RTK class III Receptor tyrosine kinase. PDGFRA, through its tyrosine kinase activity, contributes to the growth, differentiation, and proliferation of cells. Chromosome translocations between the PDGFRB gene and either the CEP85L,[11] HIP1, KANK1, BCR, CCDC6, H4D10S170), GPIAP1, ETV6, ERC1, GIT2, NIN,[12] TRIP11, CCDC88C[13] TP53BP1, NDE1, SPECC1, NDEL1, MYO18A, BIN2,[14] COL1A1, DTD1[15] CPSF6, RABEP1, MPRIP, SPTBN1, WDR48, GOLGB1, DIAPH1, TNIP1, or SART3 gene create a fusion gene which codes for a chimeric protein consisting of the tyrosine kinase portion of PDGFRB and a portion of the other cited genes. The fusion protein has uninhibited tyrosine kinase activity and thereby continuously stimulates cell growth and proliferation.[1][3][6]
##### Clinical presentation and treatment[edit]
Patients with the cited PDGFRB fusion genes generally present with a combination of eosinophilia and monocytosis, increased bone marrow eosinophils, and/or eosinophil tissue infiltrations but otherwise a disease resembling chronic myelomonocytic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myelogenous leukemia, acute lymphoblastic leukemia, or T lymphoblastic lymphoma. These patients usually respond well to imatinib or other tyrosine kinase inhibitor therapy.[1][3][5][6][16]
#### FGFR1-associated eosinophilic neoplasms[edit]
Main article: FGFR1 § Hematological cancers
##### Genetics[edit]
FGFR1 is the gene for the fibroblast growth factor receptor 1, a cell surface receptor that similar to PDGFRA and PDGFRB, is tyrosine kinase receptor. In some rare hematological cancers, the fusion of the FGFR1 gene with certain other genes due to Chromosomal translocations or Interstitial deletions create fusion genes that encode chimeric FGFR1 Fusion proteins that have continuously active FGFR1-derived tyrosine kinase activity and thereby continuously stimulate cell growth and proliferation. These mutations occur in the early stages of myeloid and/or lymphoid cell lines and are the cause of or contribute to the development and progression of certain types of leukemia, Myelodysplastic syndromes, and lymphomas which are commonly associated with greatly increased numbers of circulating blood eosinophils (i.e. hypereosinophilia) and/or increased numbers of bone marrow eosinophils. These neoplasmas are sometimes termed, along with certain other Myelodysplastic syndromes associated with eosinophilia as myeloid neoplasms with eosinophilia, clonal eosinophilia, or primary eosinophilia. They have also been termed 8p11 myeloproliferative syndromes based on the chromosomal location of the FGFR1 gene on human chromosome 8 at position p11 (i.e. 8p11).[3] The fusion gene partners of FGFR1 causing these neoplasms include: MYO18A, CPSF6, TPR, HERV-K, FGFR1OP2, ZMYM2, CUTL1, SQSTM1, RANBP2, LRRFIP1, CNTRL, FGFR1OP, BCR, NUP98, MYST3, and CEP110.[1][6][7]
##### Clinical presentation and treatment[edit]
As detailed in FGFR1 Hematological cancers, patients with the cited FGFR1 fusion genes usually evidence hematological features of the myeloproliferative syndrome with moderate to greatly elevated levels of blood and bone marrow eosinophils. Less commonly and dependent upon the exact gene to which FBGFR1 is fused, patients may present with hematological features of T-cell lymphomas which may have spread to non-lymphoid tissues; chronic myelogenous leukemias; or chronic myelomonocytic leukemia with involvement of tonsils. Some of these patients may present with little or no eosinophilia features but because of the underlying genetic mutation and its therapeutic implications are still regarded having clonal eosinophilia. Because the FGFR1 gene is located on human chromosome 8 at position p11, hematological diseases associated with the cited FGFR1 gene fusions are sometimes termed the 8p11 myeloproliferative syndrome.[1][17]
FGFR1 fusion gene-associated hematological diseases are aggressive, rapidly progressive, and, in general, do not respond to first generation tyrosine kinase inhibitors. Two newer generation tyrosine kinase inhibitors, sorafenib and midostaurin, have had only transient and/or minimal effects in treating the disease. Currently, treatment with chemotherapy agents followed by bone marrow transplantion has been used to improve survival.[1][6][16] The tyrosine kinase inhibitor Ponatinib has been used as mono-therapy and subsequently used in combination with intensive chemotherapy to treat the myelodysplasia caused by the FGFR1-BCR fusion gene.[1][2]
#### PCM1-JAK2 -associated eosinophilic neoplasms[edit]
The JAK2 gene encodes a member of the Janus kinase family of non-receptor tyrosine kinase, JAK2. The JAK2 protein associates with the cytoplasmic tails of various cytokine and growth factor receptors that reside on the cell surface and regulate Haematopoiesis, i.e. the development and growth of blood cells. Examples of such receptors include the erythropoietin receptor, Thrombopoietin receptor, granulocyte colony-stimulating factor receptor, Granulocyte macrophage colony-stimulating factor receptor, Interleukin-3 receptor, Interleukin-5 receptor, Interleukin-6 receptor, and the receptor Thymic stromal lymphopoietin, which is a complex composed of the CRLF2 receptor combined with alpha chain of the IL-7 receptor.[18] JAK2 protein's association with these receptors is responsible for a) correctly targeting and positioning these receptors at the cell surface and b) indirectly activating critical cell signaling pathways including in particular the STAT family of transcription factors which are involved in promoting the growth, proliferation, differentiation, and survival of the myeloid and lymphoid precursor cells that populate the bone marrow, other blood cell forming tissues, and the blood.[18] The PCM1 gene codes for the PCM1 protein, i.e. pricentriolar material 1. also known as PCM1, is a protein which in humans is encoded by the PCM1 gene. The PCM1 protein exhibits a distinct cell cycle-dependent association with the centrosome complex and microtubules; it is critical for the normal cell cycle and cell division (see PCM1).
##### Genetics[edit]
Acquired mutations in early hematopoietic stem cells involving the JAK2 gene, located on human chromosome 8 at position p22 (i.e. 8p22), and the PCM1 gene, located at 12p13, create the PCM1-JAK2 fusion gene. This fusion gene encodes the chimeric PCMI-JAK2 fusion protein which has continuously active JAK2-associated tyrosine kinase and therefore continuously phosphorylates tyrosine residues on the cytoplasmic tail of the cell surface receptor to which the it is attached. In consequence, the receptor remains continuously active in attracting docking proteins such as SOS1 and STAT proteins which drive cell growth, proliferation, and survival.[1][18]
##### Clinical presentation and treatment[edit]
PCM1-JAK2 gene positive patients present with features of myeloid neoplasms, lymphoid neoplasms, or features of both types of neoplasms. Most commonly, the present with features of myeloid neoplasms with 50–70% of cases associated with eosinophilia and/or bone marrow fibrosis Their disease usually progresses rapidly from a chronic phase to an acute blast cell phase resembling chronic myelogenous leukemia's conversion form chronic to acute phases. Rarely, the acute phase of PCM1-JAK2 gene positive disease resembles a lymoblastic leukemia.[1] PCM1-JAK2-induced hematological malignances are rare and relatively newly discovered. The disease is aggressive and therefore has been treated aggressively with chemotherapy followed by bone marrow transplantation. However, of 6 patients treated with a tyrosine kinase inhibitor, ruxolitinib, 5 experienced complete remissions and have survived for at least 30 months. One patient relapsed after 18 months ruxolitinib therapy and required Hematopoietic stem cell transplantation (HSCT). The efficacy of ruxolitinib therapy in this therapy requires a larger study; ultimately, the drug may find use as initial single therapy or as an adjuvant to reduce tumor load prior to combination with HCST.[1][4]
### Other clonal hypereosinophilias[edit]
Ongoing studies continue to find patients with eosinophilia, hypereosinophilia, or other myeloid/lymphoid neoplasms that are associated with eosinophilia and that express previously unappreciated mutations in genes coding for other tyrosine kinases in bone marrow-derived cells. These cases fit the definition of clonal hypereosinophilia. The World Health Organization currently includes these mutation-related diseases in the categories of 1) idiopathic hypereosinophila when blood and bone marrow show no increase in blast cells and there is no eosinophil-related organ damage or 2) CEL-NOS when increased numbers of blast cells occur in blood and/or bone marrow and/or eosinophil-related tissue damage is present. Further studies may allow these mutation-related diseases to be considered for inclusion in the myeloid and lymphoid neoplasms associated with eosinophilia category.[3][4]
#### Other JAK2-related eosinophilias[edit]
##### Genetics[edit]
Gene fusions of JAK2 with ETV6 or BCR have been discovered in rare instances of eosinophilia-associated hematological diseases. The product of the ETV6 gene is a member of the ETS transcription factor family; it is required for hematopoiesis and maintenance of the developing vascular network, as determined in mouse Gene knockout. ETV6 is located on human chromosome 12 at position p13.2; chromosome translocation between it and JAK2 located on human chromosome 9 at position p24.1 form the fusion gene t(9;12)(p24;13) which encodes the ETV6-JAK2 fusion protein. Forced expression of this fusion protein in mice causes a fatal mixed myeloid and/or T-cell lymphoproliferative disorder. BCR encodes the breakpoint cluster region protein. This protein possess Serine/threonine-specific protein kinase activity and also has GPAase activating effects on RAC1 and CDC42 but its normal function is unclear. BCR is located on human chromosome 22 at position q11.23. Translocations between it and JAK2 create the t(9;22)(p24;q11) fusion gene which codes for the BCR-JAK2 fusion protein. Forced expression of BCR-JAK2 in mice induces a fatal myeloid neoplasm involving splenomegaly, megakaryocyte infiltration, and leukocytosis.[1][4][19] It is assumed but not yet fully proven that the Malignant transformation effects of these two fusion proteins are due to the effects of a presumptively continuously active JAK2-associated tyrosine kinase. Rare patients with hypereosinophilia carry a somatic point mutation in the JAK2 gene which encodes for the amino acid phenylalanine (notated as F) instead of valine (notated as V) at position 617 of JAK2 protein. This V617F mutation render's the protein's tyrosine kinase continuously active and results in a myeloproliferative neoplasm with eosinophilia.[20][16]
##### Clinical presentation and treatment[edit]
The clinical presentation of patients suffering ETV6-JAK2 or BCR-JAK2 fusion gene-associated disease is similar to that occurring in PCM1-JAK2-associated eosinophilic neoplasm. Like the latter neoplasm, hematologic neoplasms cause by ETV6-JAK2 and BCR-JAK2 are aggressive and progress rapidly. Too few patients with the latter fusion proteins have been treated with tyrosine kinase inhibitors to define their efficacy. One patient with BCR-JAK-related disease obtained a complete remission with ruxolitinib therapy that lasted 24 months but then required Hematopoietic stem cell transplantation (HSCT); a second patient wit this mutation failed treatment with dasatinib and also required HSCT.[1][21] Patients bearing the V617F mutation exhibited features of a myleproliferative neoplasm. Treated with imatinib, they exhibited some hematological improvement.[20]
#### ABL1-related eosinophilias[edit]
##### Genetics[edit]
The ABL1 gene encodes a non-receptor tyrosine kinase termed Abelson murine leukemia viral oncogene homolog 1. Among its numerous effects on cellular function, the ABL1 kinase- regulates cell proliferation and survival pathways during development. It mediates at least in part the cell proliferating signaling stimulated by PDGF receptors as well as by antigen receptors on T cell and B cell lymphocytes.[22] The ABL1 gene is located on human chromosome 9q34.12; translocations between it and the BCR gene on human chromosome 22q11.23 create the well-known t(9;22)(q34;q11) BCR-ABL1 fusion gene responsible for Philadelphia chromosome positive chronic myelogenous leukemia and chronic lymphocytic leukemia. While BCR-ABL1 fusion gene-induce leukemias are sometimes accompanied by eosinophilia, they are not regarded as clonal hypereosinophilias since other features of these leukemias dominate. However, translocations between ABL1 and the ETV6 gene, located on human chromosome 12p13.2 creates the t(9;13)(q34;p13) ETV6-ABL1 fusion gene. This fusion gene is regarded as continuously active in drive hematological cell proliferation leading to clonal hypereosinophilia.[1][22]
##### Clinical presentation and treatment[edit]
Patients with ETV6-ABL1 fusion gene-positive disease present with various hematological disorders. Children present predominantly with hematological findings similar to acute lymphocytic leukemia and less commonly with findings of acute myelogenous leukemia or chronic variants of these two leukemias. Adults are more likely to present with findings similar to acute myelogenous leukemia or myeloproliferative neoplasms. In a study of 44 patients with this fusion gene, eosinophilia was found in all patients with myelogenous and myeloproliferative diseases but only 4 of 13 with acute lymphocytic leukemia presentations. The prognosis was very poor in adults with acute leukemia forms of the disease; ~80% of these patients suffered fatal disease progression or relapse. Five patients with the myeloproliferative form of the disease responded to the tyrosine kinase inhibitor imatinib or sequential treatment with imatinib followed by recurrence and treatment with a second generation tyrosine kinase inhibitor nilotinib; dasatinib is also a recommended second generation tyrosine kinase inhibitor for treating the disease. Follow-up of these patients is too short to determine the overall length of time to relapse and the efficacy of single or serial tyrosine kinase inhibitor treatments. Patients with the blast cell phase of this disease have very poor responses to tyrosine kinase inhibitors and a median survival of ~1 year. Thus, tyrosine kinase inhibitors, including second-generation inhibitors, in the treatment of ETV6-ABL1-positive hematological malignancies have shown varying responses; it is suggested that further investigations into the clinical efficacy of these drugs in ETV6-ABL1-induced clonal hypereosinophilia is warranted.[1][23]
#### FLT3-related eosinophilias[edit]
##### Genetics[edit]
The FLT3 gene codes for the cluster of differentiation antigen 135 (i.e. CD135) protein or FLT3 protein. This protein is a member of the class III family of receptor tyrosine kinases; PDGFRA, PDGFRB, c-KIT and CSF1R also belong to this receptor class. FLT3 protein binds and is activated by the FLT3 ligand; FLT3 protein activation involves its forming dimers, changing to an open conformation to allow access of the phosphate donor, ATP, to its binding pocket, and autophosphorylation. The activated receptor initiates cell proliferation and survival signals in various precursor blood cells types through RAS p21 protein activator 1, Phospholipase Cβ, STAT5, and extracellular signal-regulated kinases.[24] The FLT3 gene is located on human chromosome 13q12.2. Chromosome translocations between it and ETV6 (chromosome 12p13.2), SPTBN1 (2p16.2), GOLGB1 (3q13.33), or TRIP11 (14q32.12) genes create fusion genes which, it is hypothesized, encode for fusion proteins that have continuously active FLT3 protein-related tyrosine kinase activity and thereby force the uncontrolled proliferation and survival of hematological cells.[1][8]
##### Clinical presentation and treatment[edit]
Patients with hematological disease related to the cited FLT3 fusion genes present with either a myeloid or lymphoid neoplasm plus eosinophilia. Four of 6 patients with ETV6-FLT3-related disease, a patient with GOLGB1-FLT3-related disease, and a patient with TRIP11-FLT3-related disease presented with findings similar to T-cell lymphoma while a patient with SPTBN1-FLT3-related disease had findings of chronic myelogenous leukemia. Two patients with ETV6-FLT3-related disease experienced complete hematologic remissions when treated with a multi-kinase inhibitor, sunitinib, that has inhibitory activity against FLT3 protein. However, these remissions were short-lived. A third patient with ETV6-FLT3-related disease was treated with a similarly active kinase inhibitor, sorafenib. This patient achieved a complete hematological response and was then given a hematopoietic stem cell transplantation. The latter treatment regimen, FLT3 inhibitor followed by hematopoietic stem cell transplantation, may be the best approach currently available for treating FLT3-releated hematological disease.[1][2]
#### ETV6-ACSL6-related eosinophilias[edit]
Main article: ETV6 § Hematological malignancies
##### Genetics[edit]
The ETV6 gene (also known as translocation-Ets-leukemia) is a member of the ETS transcription factor family. The gene codes for a transcription factor protein, ETV6, which acts to inhibit the expression of various genes which in mice appear to be required for normal hematopoiesis and the development and maintenance of the vascular network. The gene is located on human chromosome 12 at position p13.2 and is well-known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. Heterozygous ETV6 germline mutations have been identified in several families with inherited thrombocytopenia, variable red blood cell macrocytosis, and hematologic malignancies, primarily B-cell acute lymphoblastic leukemia.[25] The ACSL6 gene encodes a protein, CSL6 acyl-CoA synthetase long-chain family member 6 (or ACSL6 protein). This protein is a Long-chain-fatty-acid—CoA ligase that plays a major role in fatty acid metabolism (particularly in the brain) by charging fatty acids with Coenzyme A to form acyl-CoA. This function can not only alter fatty acid metabolism but also modulate the function of protein kinase Cs and nuclear thyroid hormone receptor. The gene is located on human chromosome 5 at position q31.1.[26] Chromosome translocations between ETV6 and ACSL6 at different chromosome break points create various t(5:12)(q31;p13) ETV6-ACSL6 fusion genes encoding ETV6-ACSL6 fusion proteins.[8] The functionality of ETV6-ACSL6 fusion proteins and the mechanism by which they promote clonal hypereosinophil may, based on indirect evidence in 5 case studies,[27] relate to a loss or gain in function of the ETV6 portion of the fusion protein. However, these issues have not been fully investigated or defined. Two cases involving ETV6-ACSL6 fusion genes were associated with the ectopic and uncontrolled expression of Interleukin 3. The gene for interleukin 3 is close to the ACSL6 gene at position 5q31 and could also be mutated during at least some ETV6-ACSL6 translocation events. Interleukin 3 stimulates the activation, growth, and survival of eosinophils and therefore its mutation could be involved in the clonal hypereosinophilia occurring in ETV6-ACSL6-related disease.[8][28][29]
##### Clinical presentation and treatment[edit]
Most patients with ETV6-ACSL6-related disease present with findings similar to eosinophilia, hypereosinophila, or chronic eosinophilic leukemia; at least 4 cases presented with eosinophilia plus findings of the red blood cell neoplasm, polycythemia vera; three cases resembled acute myelogenous leukemia; and one case presented with findings of a combined Myelodysplastic syndrome/myeloproliferative neoplasm.[8] Best treatments for ETV6-ACSL6-related disease are unclear. Patients with the polycythemia vera form of the disease have been treated by reducing the circulating red blood cell load by phlebotomy or suppressing red blood cell formation using hydroxyurea.[30] Individual case studies report that ETV6-ACSL6-associated disease is insensitive to tyrosine kinase inhibitors.[27] Best treatment currently available, therefore, may involve chemotherapy and bone marrow transplantion.
## Eosinophilia associated with other hematological diseases[edit]
Main article: Eosinophilia
Main article: Hypereosinophilia
Lymphocyte-variant hypereosinophilia is a rare disease in which eosinophilia is caused by aberrant T cell lymphocytes which secrete cytokines (e.g. interleukin-5) that stimulate the proliferation of eosinophil precursor cells. The disease, which occasionally proceeds to a malignant lymphocytic phase, clearly reflects a clonal disturbance in lymphocytes, not eosinophils, and therefore is not a clonal hypereosinophilia.[31] Similar non-clonal eosinophilia due to eosinophil precursor cell stimulation by clonal malignant cells is sometimes seen in cases of Hodgkin disease, B-cell lymphoma, T-cell lymphomas, T cell leukemias, and Langerhans cell histiocytosis.[9] Other hematological diseases are associated with eosinophilia but regarded as clonal eosinophilia associated with a more important clonal malignancy in another cell type. For example, eosinophilia occurs in 20% to 30% of patients with systemic mastocytosis. Also referred to as SM-eo (systemic mastocytosis with eosinophilia) or SM-SEL (systemic mastocytosis with chronic eosinophilic leukemia), this disease's clonal eosinophils bear the same driving mutation, D816V in the KIT gene, as the clonal mast cells.[1][32]
## References[edit]
1. ^ a b c d e f g h i j k l m n o p q r s t u v w Reiter A, Gotlib J (2017). "Myeloid neoplasms with eosinophilia". Blood. 129 (6): 704–714. doi:10.1182/blood-2016-10-695973. PMID 28028030.
2. ^ a b c d Butt NM, Lambert J, Ali S, Beer PA, Cross NC, Duncombe A, Ewing J, Harrison CN, Knapper S, McLornan D, Mead AJ, Radia D, Bain BJ (2017). "Guideline for the investigation and management of eosinophilia" (PDF). British Journal of Haematology. 176 (4): 553–572. doi:10.1111/bjh.14488. PMID 28112388.
3. ^ a b c d e f g Gotlib J (2015). "World Health Organization-defined eosinophilic disorders: 2015 update on diagnosis, risk stratification, and management". American Journal of Hematology. 90 (11): 1077–89. doi:10.1002/ajh.24196. PMID 26486351.
4. ^ a b c d Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW (2016). "The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia". Blood. 127 (20): 2391–405. doi:10.1182/blood-2016-03-643544. PMID 27069254.
5. ^ a b c d Boyer DF (2016). "Blood and Bone Marrow Evaluation for Eosinophilia". Archives of Pathology & Laboratory Medicine. 140 (10): 1060–7. doi:10.5858/arpa.2016-0223-RA. PMID 27684977.
6. ^ a b c d e f g Vega F, Medeiros LJ, Bueso-Ramos CE, Arboleda P, Miranda RN (2015). "Hematolymphoid neoplasms associated with rearrangements of PDGFRA, PDGFRB, and FGFR1". American Journal of Clinical Pathology. 144 (3): 377–92. doi:10.1309/AJCPMORR5Z2IKCEM. PMID 26276769.
7. ^ a b Appiah-Kubi K, Lan T, Wang Y, Qian H, Wu M, Yao X, Wu Y, Chen Y (2017). "Platelet-derived growth factor receptors (PDGFRs) fusion genes involvement in hematological malignancies FIP1L1#FIP1L1-PDGFRA fusion genes". Critical Reviews in Oncology/Hematology. 109: 20–34. doi:10.1016/j.critrevonc.2016.11.008. PMID 28010895.
8. ^ a b c d e De Braekeleer E, Douet-Guilbert N, Morel F, Le Bris MJ, Basinko A, De Braekeleer M (2012). "ETV6 fusion genes in hematological malignancies: a review". Leukemia Research. 36 (8): 945–61. doi:10.1016/j.leukres.2012.04.010. PMID 22578774.
9. ^ a b Valent P, Klion AD, Horny HP, Roufosse F, Gotlib J, Weller PF, Hellmann A, Metzgeroth G, Leiferman KM, Arock M, Butterfield JH, Sperr WR, Sotlar K, Vandenberghe P, Haferlach T, Simon HU, Reiter A, Gleich GJ (2012). "Contemporary consensus proposal on criteria and classification of eosinophilic disorders and related syndromes". The Journal of Allergy and Clinical Immunology. 130 (3): 607–612.e9. doi:10.1016/j.jaci.2012.02.019. PMC 4091810. PMID 22460074.
10. ^ Radonjic-Hoesli S, Valent P, Klion AD, Wechsler ME, Simon HU (2015). "Novel targeted therapies for eosinophil-associated diseases and allergy". Annual Review of Pharmacology and Toxicology. 55: 633–56. doi:10.1146/annurev-pharmtox-010814-124407. PMC 4924608. PMID 25340931.
11. ^ "CEP85L centrosomal protein 85 like [Homo sapiens (human)] – Gene – NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-04-17.
12. ^ "NIN ninein [Homo sapiens (human)] – Gene – NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-04-17.
13. ^ "CCDC88C coiled-coil domain containing 88C [Homo sapiens (human)] – Gene – NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-04-17.
14. ^ "BIN2 bridging integrator 2 [Homo sapiens (human)] – Gene – NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-04-17.
15. ^ "DTD1 D-tyrosyl-tRNA deacylase 1 [Homo sapiens (human)] – Gene – NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-04-17.
16. ^ a b c Gotlib J (2015). "Tyrosine Kinase Inhibitors and Therapeutic Antibodies in Advanced Eosinophilic Disorders and Systemic Mastocytosis". Current Hematologic Malignancy Reports. 10 (4): 351–61. doi:10.1007/s11899-015-0280-3. PMID 26404639. S2CID 36630735.
17. ^ Patnaik MM, Gangat N, Knudson RA, Keefe JG, Hanson CA, Pardanani A, Ketterling RP, Tefferi A (2010). "Chromosome 8p11.2 translocations: prevalence, FISH analysis for FGFR1 and MYST3, and clinicopathologic correlates in a consecutive cohort of 13 cases from a single institution". American Journal of Hematology. 85 (4): 238–42. doi:10.1002/ajh.21631. PMID 20143402.
18. ^ a b c Springuel L, Renauld JC, Knoops L (2015). "JAK kinase targeting in hematologic malignancies: a sinuous pathway from identification of genetic alterations towards clinical indications". Haematologica. 100 (10): 1240–53. doi:10.3324/haematol.2015.132142. PMC 4591756. PMID 26432382.
19. ^ Cuesta-Domínguez Á, León-Rico D, Álvarez L, Díez B, Bodega-Mayor I, Baños R, Martín-Rey MÁ, Santos-Roncero M, Gaspar ML, Martín-Acosta P, Almarza E, Bueren JA, Río P, Fernández-Ruiz E (2015). "BCR-JAK2 drives a myeloproliferative neoplasm in transplanted mice". The Journal of Pathology. 236 (2): 219–28. doi:10.1002/path.4513. PMID 25664618.
20. ^ a b Schwaab J, Umbach R, Metzgeroth G, Naumann N, Jawhar M, Sotlar K, Horny HP, Gaiser T, Hofmann WK, Schnittger S, Cross NC, Fabarius A, Reiter A (2015). "KIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of unknown significance". American Journal of Hematology. 90 (9): 774–7. doi:10.1002/ajh.24075. PMID 26017288.
21. ^ He R, Greipp PT, Rangan A, Mai M, Chen D, Reichard KK, Nelsen LL, Pardanani A, Hanson CA, Viswanatha DS (2016). "BCR-JAK2 fusion in a myeloproliferative neoplasm with associated eosinophilia". Cancer Genetics. 209 (5): 223–8. doi:10.1016/j.cancergen.2016.03.002. PMID 27134074.
22. ^ a b Khatri A, Wang J, Pendergast AM (2016). "Multifunctional Abl kinases in health and disease". Journal of Cell Science. 129 (1): 9–16. doi:10.1242/jcs.175521. PMC 4732293. PMID 26729027.
23. ^ Tirado CA, Siangchin K, Shabsovich DS, Sharifian M, Schiller G (2016). "A novel three-way rearrangement involving ETV6 (12p13) and ABL1 (9q34) with an unknown partner on 3p25 resulting in a possible ETV6-ABL1 fusion in a patient with acute myeloid leukemia: a case report and a review of the literature". Biomarker Research. 4 (1): 16. doi:10.1186/s40364-016-0070-7. PMC 5000511. PMID 27570624.
24. ^ Leick MB, Levis MJ (2017). "The Future of Targeting FLT3 Activation in AML". Current Hematologic Malignancy Reports. 12 (3): 153–167. doi:10.1007/s11899-017-0381-2. PMID 28421420. S2CID 43399071.
25. ^ Songdej N, Rao AK (2017). "Hematopoietic Transcription Factors Mutations – Important Players in Inherited Platelet Defects". Blood. 129 (21): 2873–2881. doi:10.1182/blood-2016-11-709881. PMC 5445569. PMID 28416505.
26. ^ "ACSL6 acyl-CoA synthetase long chain family member 6 [Homo sapiens (human)] - Gene - NCBI".
27. ^ a b Su RJ, Jonas BA, Welborn J, Gregg JP, Chen M (2016). "Chronic eosinophilic leukemia, NOS with t(5;12)(q31;p13)/ETV6-ACSL6 gene fusion: a novel variant of myeloid proliferative neoplasm with eosinophilia". Human Pathology (New York). 5: 6–9. doi:10.1016/j.ehpc.2015.10.001. PMC 4957580. PMID 27458550.
28. ^ Esnault S, Kelly EA, Shen ZJ, Johansson MW, Malter JS, Jarjour NN (2015). "IL-3 Maintains Activation of the p90S6K/RPS6 Pathway and Increases Translation in Human Eosinophils". Journal of Immunology. 195 (6): 2529–39. doi:10.4049/jimmunol.1500871. PMC 4561194. PMID 26276876.
29. ^ Varricchi G, Bagnasco D, Ferrando M, Puggioni F, Passalacqua G, Canonica GW (2017). "Mepolizumab in the management of severe eosinophilic asthma in adults: current evidence and practical experience". Therapeutic Advances in Respiratory Disease. 11 (1): 40–45. doi:10.1177/1753465816673303. PMC 5941977. PMID 27856823.
30. ^ Murati A, Adélaïde J, Gelsi-Boyer V, Etienne A, Rémy V, Fezoui H, Sainty D, Xerri L, Vey N, Olschwang S, Birnbaum D, Chaffanet M, Mozziconacci MJ (2006). "t(5;12)(q23-31;p13) with ETV6-ACSL6 gene fusion in polycythemia vera". Leukemia. 20 (6): 1175–8. doi:10.1038/sj.leu.2404194. PMID 16572202.
31. ^ Carruthers MN, Park S, Slack GW, Dalal BI, Skinnider BF, Schaeffer DF, Dutz JP, Law JK, Donnellan F, Marquez V, Seidman M, Wong PC, Mattman A, Chen LY (2017). "IgG4-related disease and lymphocyte-variant hypereosinophilic syndrome: A comparative case series". European Journal of Haematology. 98 (4): 378–387. doi:10.1111/ejh.12842. PMID 28005278.
32. ^ Kovalszki A, Weller PF (2014). "Eosinophilia in mast cell disease". Immunology and Allergy Clinics of North America. 34 (2): 357–64. doi:10.1016/j.iac.2014.01.013. PMC 4083463. PMID 24745679.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Clonal hypereosinophilia
|
None
| 26,354 |
wikipedia
|
https://en.wikipedia.org/wiki/Clonal_hypereosinophilia
| 2021-01-18T19:09:51 |
{"wikidata": ["Q30314608"]}
|
Cryptomenorrhea
SpecialtyGynecology
Cryptomenorrhea or cryptomenorrhoea, also known as hematocolpos,[citation needed] is a condition where menstruation occurs but is not visible[1] due to an obstruction of the outflow tract. Specifically the endometrium is shed, but a congenital obstruction such as a vaginal septum or on part of the hymen retains the menstrual flow. A patient with cryptomenorrhea will appear to have amenorrhea but will experience cyclic menstrual pain. The condition is surgically correctable.
The patient usually presents at the age of puberty when the commencement of menstruation blood gets collected in the vagina and gives rise to symptoms.
## Contents
* 1 Symptoms
* 1.1 Signs
* 1.2 Complications
* 2 Diagnosis
* 3 Treatment
* 4 References
* 5 External links
## Symptoms[edit]
Eugonadotropic primary amenorrhea and cyclical lower abdominal pain are the chief presenting complaints of hematocolpos. Patient may be brought in emergency urinary retention.
### Signs[edit]
* Abdominal examination: swelling is felt on palpation.
* On vulval inspection: a tense, bulging, bluish membrane is seen, this finding varies according to the thickness of the obstructing membrane. It may be absent in patients with complete or partial vaginal agenesis.
* On rectal examination: a large bulging mass is felt.
### Complications[edit]
* hematometra (collection of blood in the uterine cavity)
* hematosalpinx (collection of blood in fallopian tubes)
* endometriosis in long-standing cases
* in severe, untreated forms, infertility and urinary retention
## Diagnosis[edit]
can be easily diagnosed on ultrasound, vagina is seen filled with blood and uterus is pushed upward. associated hematosalpinx and hematometra may be seen.
## Treatment[edit]
A simple cruciate incision followed by excision of tags of hymen[2] allows drainage of the retained menstrual blood. A thicker transverse vaginal septum can be treated with Z-plasty. A blind vagina will require a partial or complete vaginoplasty. Hematosalpinx may require laprotomy or laparoscopy for removal and reconstruction of affected tube.
Infertility may require assisted reproductive techniques.
## References[edit]
1. ^ "cryptomenorrhea" at Dorland's Medical Dictionary
2. ^ https://www.virginitynow.com/
## External links[edit]
Classification
D
* DiseasesDB: 32217
* v
* t
* e
Female diseases of the pelvis and genitals
Internal
Adnexa
Ovary
* Endometriosis of ovary
* Female infertility
* Anovulation
* Poor ovarian reserve
* Mittelschmerz
* Oophoritis
* Ovarian apoplexy
* Ovarian cyst
* Corpus luteum cyst
* Follicular cyst of ovary
* Theca lutein cyst
* Ovarian hyperstimulation syndrome
* Ovarian torsion
Fallopian tube
* Female infertility
* Fallopian tube obstruction
* Hematosalpinx
* Hydrosalpinx
* Salpingitis
Uterus
Endometrium
* Asherman's syndrome
* Dysfunctional uterine bleeding
* Endometrial hyperplasia
* Endometrial polyp
* Endometriosis
* Endometritis
Menstruation
* Flow
* Amenorrhoea
* Hypomenorrhea
* Oligomenorrhea
* Pain
* Dysmenorrhea
* PMS
* Timing
* Menometrorrhagia
* Menorrhagia
* Metrorrhagia
* Female infertility
* Recurrent miscarriage
Myometrium
* Adenomyosis
Parametrium
* Parametritis
Cervix
* Cervical dysplasia
* Cervical incompetence
* Cervical polyp
* Cervicitis
* Female infertility
* Cervical stenosis
* Nabothian cyst
General
* Hematometra / Pyometra
* Retroverted uterus
Vagina
* Hematocolpos / Hydrocolpos
* Leukorrhea / Vaginal discharge
* Vaginitis
* Atrophic vaginitis
* Bacterial vaginosis
* Candidal vulvovaginitis
* Hydrocolpos
Sexual dysfunction
* Dyspareunia
* Hypoactive sexual desire disorder
* Sexual arousal disorder
* Vaginismus
* Urogenital fistulas
* Ureterovaginal
* Vesicovaginal
* Obstetric fistula
* Rectovaginal fistula
* Prolapse
* Cystocele
* Enterocele
* Rectocele
* Sigmoidocele
* Urethrocele
* Vaginal bleeding
* Postcoital bleeding
Other / general
* Pelvic congestion syndrome
* Pelvic inflammatory disease
External
Vulva
* Bartholin's cyst
* Kraurosis vulvae
* Vestibular papillomatosis
* Vulvitis
* Vulvodynia
Clitoral hood or clitoris
* Persistent genital arousal disorder
* v
* t
* e
Female congenital anomalies of the genitalia, including Intersex and DSD
Internal
Uterine malformation
* Müllerian agenesis
* Cervical agenesis
* Unicornuate uterus
* Uterus didelphys
* Bicornuate uterus
* Uterine septum
* Arcuate uterus
Vagina
* Vaginal septum
* Vaginal hypoplasia
* Imperforate hymen
* Vaginal adenosis
* Cloacal exstrophy
* Vaginal atresia
External
* Clitoromegaly
* Progestin-induced virilization
* Pseudohermaphroditism
* True hermaphroditism
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Cryptomenorrhea
|
c0232942
| 26,355 |
wikipedia
|
https://en.wikipedia.org/wiki/Cryptomenorrhea
| 2021-01-18T19:02:57 |
{"umls": ["C0232942"], "wikidata": ["Q5190985"]}
|
A rare genetic overgrowth syndrome characterized by a typical facial appearance, overgrowth with macrocephaly and variable intellectual impairment.
## Epidemiology
Prevalence at birth is estimated at 1/14,000.
## Clinical description
Excessive growth is evident across life, especially in childhood, and can manifest since fetal life., with final adult height beyond or in the upper part of the normal ranges. Macrocephaly is usually striking and disproportioned with respect to height. The distinct facial appearance is most easily recognized in early childhood (long narrow face, flushed cheeks, prominent forehead with frontotemporal hair scarcity, down-slanting palpebral fissures, hypertelorism, a high arched palate, and pointed chin). Sotos syndrome is associated with mild to severe intellectual disability as well as a wide spectrum of behavioral disorders. Developmental milestones are commonly delayed. Additional features may include in the neonatal period hypotonia and poor feeding and subsequently advanced bone age, scoliosis, prognathia, premature dental eruption, large hands and feet. Seizures and electroencephalogram abnormalities are common. Less common features are conductive hearing loss, and cardiac and genitourinary anomalies. Cancer predisposition is debated: the increased risk, if any, appears to be low.
## Etiology
Sotos syndrome is caused by mutations or microdeletions in the NSD1 gene (5q35) in more than 95% of cases. NSD1 is involved in normal growth and development. Biallelic mutations in the APC2 gene (19p13.3) have also been reported in a few cases.
## Diagnostic methods
The diagnosis is based on the major clinical manifestations (characteristic facial features, learning disability, and overgrowth). It can be confirmed by molecular genetic testing of the causative genes. Overlap with other overgrowth syndromes may complicate diagnosis.
## Differential diagnosis
The differential diagnosis should include Malan syndrome, Simpson-Golabi-Behmal syndrome, Weaver syndrome, Tatton-Brown syndrome, Bannayan-Riley-Ruvalcaba syndrome, Fragile X syndrome and megalocephalic syndromes associated with mutations in the PI3K-AKT-mTOR pathway. A Sotos-like phenotype has been reported in patients with SETD2 mutations.
## Antenatal diagnosis
Prenatal diagnosis is possible if the disease-causing mutation has been identified in the family or if there is the strong suspicion of the condition (e.g. macrocephaly).
## Genetic counseling
Sotos syndrome follows an autosomal dominant pattern of inheritance in the rare familial cases associated with NSD1; genetic counseling should be offered to affected individuals informing them that, for every pregnancy, there is a 50% risk of transmitting the disorder to offspring. The vast majority of patients have de novo mutations. In these cases, risk of recurrence is very low.
## Management and treatment
There is no specific treatment for the syndrome. Management of Sotos syndrome requires a multidisciplinary approach.
## Prognosis
Sotos syndrome shows a wide spectrum of intellectual impairment, with functioning from fully independent to fully dependent. Affected individuals are generally healthy with few medical issues.
* 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Sotos syndrome
|
c0175695
| 26,356 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=821
| 2021-01-23T18:21:38 |
{"gard": ["10091"], "mesh": ["D058495"], "omim": ["117550", "617169"], "umls": ["C0175695"], "icd-10": ["Q87.3"], "synonyms": ["Cerebral gigantism"]}
|
Stiff skin syndrome (SSS) is a rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported.[
Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy to improve or maintain joint movement.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Stiff skin syndrome
|
c1861456
| 26,357 |
gard
|
https://rarediseases.info.nih.gov/diseases/5025/stiff-skin-syndrome
| 2021-01-18T17:57:30 |
{"mesh": ["C566112"], "omim": ["184900"], "umls": ["C1861456"], "orphanet": ["2833"], "synonyms": []}
|
D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.
## Epidemiology
Exact prevalence and incidence of this disorder are not known but about 80 cases have been reported to date. No geographical predominance has been found for this disorder.
## Clinical description
D-2-hydroxyglutaric aciduria has extremely variable clinical manifestations. Severe cases are characterized by neonatal or early infantile-onset epileptic encephalopathy. Marked hypotonia, cerebral visual failure, developmental delay, seizures, involuntary movements, and cardiomyopathy are common in these cases. Facial dysmorphic features have been reported frequently and include a flat face with a broad nasal bridge, and external ear anomalies. In mild cases, the clinical picture is more variable. Developmental delay and hypotonia are the most common findings. No correlation between D-2-HG levels and clinical symptoms has been found. Some patients with elevated D-2-HG levels are asymptomatic. In general, D-2-hydroxygluratic aciduria caused by heterozygous IDH2 mutations, has a more severe clinical course than D-2-hydroxygluratic aciduria caused by mutations in the D2HGDH gene.
## Etiology
Mutations in the D2HGDH gene (2p25.3) encoding mitochondrial D-2-hydroxyglutarate dehydrogenase have been identified in approximately 50% of patients with this disorder. Others were found to harbor a pathogenic heterozygous mutation in the IDH2 gene (15q21-qter) encoding mitochondrial isocitrate dehydrogenase.
## Diagnostic methods
Diagnosis is established on the basis of excess D-2-hydroxyglutaric acid in the urine and MRI findings: subependymal cysts, delayed cerebral maturation, and periventricular white-matter abnormalities in severe cases.
## Differential diagnosis
Urinary organic acid screening does not allow differentiation between L-2-hydroxygluratic acid and D-2-hydroxyglutaric acid. Therefore, this differentiation has to be performed subsequently by a specialized laboratory.
## Antenatal diagnosis
Prenatal diagnosis can be performed by mutational analysis and detection of increased levels of D-2-hydroxyglutaric acid in amniotic fluid.
## Genetic counseling
D-2-HGA caused by mutations in the D2HGDH gene follows an autosomal recessive pattern of inheritance. Genetic counseling is complicated due to the extremely wide clinical picture and poor understanding of the genetic etiology and underlying mechanisms. In contrast, D-2-HGA caused by a de novo heterozygous mutation in the IDH2 gene, is an autosomal dominant trait, with the exception for one reported family.
## Management and treatment
There is no specific treatment for D-2-hydroxyglutaric aciduria. Management mainly involves control of seizures when they are present.
## Prognosis
The prognosis is entirely dependent on the severity of the clinical picture and course of the disease.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
D-2-hydroxyglutaric aciduria
|
c3152055
| 26,358 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79315
| 2021-01-23T19:06:40 |
{"gard": ["5661"], "omim": ["600721", "613657"], "icd-10": ["E72.8"], "synonyms": ["D-2-HGA", "D-2-hydroxyglutaric acidemia"]}
|
A number sign (#) is used with this entry because of evidence that autosomal dominant giant axonal neuropathy-2 (GAN2) is caused by heterozygous mutation in the DCAF8 gene (615820) on chromosome 1q23. One such family has been reported.
For a discussion of genetic heterogeneity of giant axonal neuropathy, see GAN1 (256850).
Description
Giant axonal neuropathy-2 is an autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment and lower extremity muscle weakness and atrophy after the second decade. Foot deformities may be present in childhood. More severely affected individuals may develop cardiomyopathy. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation (summary by Klein et al., 2014).
Clinical Features
Vogel et al. (1985) reported a German kinship with clinical features of hereditary motor sensory neuropathy type 2 (HMSN2; see, e.g., CMT2A1; 118210) characterized by axonal swellings with neurofilament accumulations on peripheral nerve biopsy. There were at least 9 affected family members spanning 5 generations; inheritance was autosomal dominant. Clinical features included pes cavus, gait abnormalities, peroneal muscle weakness and atrophy, hand weakness, hyporeflexia or areflexia, and distal sensory loss of tactile and vibratory sensations. EMG showed chronic denervation, and nerve conduction velocities (NCVs) were normal or mildly decreased. Sural nerve biopsy showed mild reduction in myelinated fibers, occasional small onion bulb formations, and swollen axons with neurofilament accumulation. Three of the most severely affected individuals had evidence of a cardiomyopathy. Vogel et al. (1985) distinguished the disorder in this family from autosomal recessive giant axonal neuropathy (GAN1; 256850) by the mode of inheritance, later age at onset, absence of hair abnormalities, and absence of central nervous system involvement. In a follow-up of the family reported by Vogel et al. (1985), Klein et al. (2014) noted that none of the affected individuals had significant progression of the disorder, but 2 had died from cardiomyopathy-related problems.
Lus et al. (2003) reported an Italian family with autosomal dominant inheritance of Charcot-Marie-Tooth disease with giant axons. Clinical features were variable in severity, but included progressive weakness and atrophy of the hands, feet, and legs with a peroneal distribution, generalized hyporeflexia and areflexia, steppage gait, and distal loss of tactile and vibratory sensation. All patients had pes cavus since infancy, but other symptoms developed in adulthood and were slowly progressive. Motor and sensory NCVs were moderately to severely reduced. Sural nerve biopsy of 1 patient showed numerous giant axons with sporadic onion bulb formations. Molecular analysis excluded linkage to known CMT2 loci and mutations in known CMT2 genes, including NEFL (162280) and GAN (605379).
Inheritance
The transmission pattern of the disorder in the families reported by Vogel et al. (1985) and Lus et al. (2003) was consistent with autosomal dominant inheritance.
Molecular Genetics
In affected members of a family with GAN2 reported by Vogel et al. (1985), Klein et al. (2014) identified a heterozygous missense mutation in the DCAF8 gene (R317C; 615820.0001). The mutation was found by whole-exome sequencing and segregated with the disorder in the family. In vitro functional expression assays in HEK293 cells showed that the R317C mutant protein decreased DCAF8 binding to DDB1 (600045), indicating a negative impact on recruitment of the E3 ubiquitin ligase complex. Klein et al. (2014) postulated that the mutation caused a defect in E3 ubiquitin ligase-mediated neurofilament degradation.
INHERITANCE \- Autosomal dominant CARDIOVASCULAR Heart \- Cardiomyopathy (reported in 1 family) SKELETAL Feet \- Pes cavus \- Hammer toes NEUROLOGIC Peripheral Nervous System \- Distal limb muscle weakness due to peripheral neuropathy \- Distal limb muscle atrophy due to peripheral neuropathy \- Steppage gait \- Hyporeflexia \- Areflexia \- Distal sensory loss of tactile and vibratory senses \- EMG shows chronic denervation \- Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation \- Sural nerve biopsy shows occasional onion bulb formations \- Normal or mildly decreased motor nerve conduction velocities (NCV) MISCELLANEOUS \- Foot deformities are present in infancy or childhood \- Neurologic features occur in adulthood \- One family with a confirmed DCAF8 mutation has been reported (last curated June, 2014) MOLECULAR BASIS \- Caused by mutation in the DDB1- and CUL4-associated factor 8 gene (DCAF8, 615820.0001 ). ▲ 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT
|
c4013360
| 26,359 |
omim
|
https://www.omim.org/entry/610100
| 2019-09-22T16:05:07 |
{"doid": ["0090069"], "omim": ["610100"], "orphanet": ["401964"], "synonyms": ["Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons", "CMT2 with giant axons", "HMSN2 with giant axons"]}
|
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a condition that affects several parts of the body, particularly the digestive system and nervous system. The major features of MNGIE disease can appear anytime from infancy to adulthood, but signs and symptoms most often begin by age 20. The medical problems associated with this disorder worsen with time.
Abnormalities of the digestive system are among the most common and severe features of MNGIE disease. Almost all affected people have a condition known as gastrointestinal dysmotility, in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently. The resulting digestive problems include feelings of fullness (satiety) after eating only a small amount, trouble swallowing (dysphagia), nausea and vomiting after eating, episodes of abdominal pain, diarrhea, and intestinal blockage. These gastrointestinal problems lead to extreme weight loss and reduced muscle mass (cachexia).
MNGIE disease is also characterized by abnormalities of the nervous system, although these tend to be milder than the gastrointestinal problems. Affected individuals experience tingling, numbness, and weakness in their limbs (peripheral neuropathy), particularly in the hands and feet. Additional neurological signs and symptoms can include droopy eyelids (ptosis), weakness of the muscles that control eye movement (ophthalmoplegia), and hearing loss. Leukoencephalopathy, which is the deterioration of a type of brain tissue known as white matter, is a hallmark of MNGIE disease. These changes in the brain can be seen with magnetic resonance imaging (MRI), though they usually do not cause symptoms in people with this disorder.
## Frequency
The prevalence of MNGIE disease is unknown. About 70 people with this disorder have been reported.
## Causes
Mutations in the TYMP gene (previously known as ECGF1) cause MNGIE disease. This gene provides instructions for making an enzyme called thymidine phosphorylase. Thymidine is a molecule known as a nucleoside, which (after a chemical modification) is used as a building block of DNA. Thymidine phosphorylase breaks down thymidine into smaller molecules, which helps regulate the level of nucleosides in cells.
TYMP mutations greatly reduce or eliminate the activity of thymidine phosphorylase. A shortage of this enzyme allows thymidine to build up to very high levels in the body. Researchers believe that an excess of this molecule is damaging to a particular kind of DNA known as mitochondrial DNA or 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.
Mitochondria use nucleosides, including thymidine, to build new molecules of mtDNA as needed. A loss of thymidine phosphorylase activity and the resulting buildup of thymidine disrupt the usual maintenance and repair of mtDNA. As a result, mutations can accumulate in mtDNA, causing it to become unstable. Additionally, mitochondria may have less mtDNA than usual (mtDNA depletion). These genetic changes impair the normal function of mitochondria. Although mtDNA abnormalities underlie the digestive and neurological problems characteristic of MNGIE disease, it is unclear how defective mitochondria cause the specific features of the disorder.
### Learn more about the gene associated with Mitochondrial neurogastrointestinal encephalopathy disease
* TYMP
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the TYMP 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Mitochondrial neurogastrointestinal encephalopathy disease
|
c4551995
| 26,360 |
medlineplus
|
https://medlineplus.gov/genetics/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease/
| 2021-01-27T08:25:07 |
{"gard": ["9920"], "mesh": ["C537477"], "omim": ["603041"], "synonyms": []}
|
A number sign (#) is used with this entry because hereditary nonpolyposis colorectal cancer-7 (HNPCC7) is caused by mutation in the MLH3 gene (604395) on chromosome 14q24.3.
For a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer, see HNPCC1 (120435).
Molecular Genetics
Liu et al. (2003) screened index patients from 70 families with colorectal cancer for germline mutations in the MLH3 gene. None of the families had classical or attenuated familial adenomatous polyposis. Liu et al. (2003) identified 1 frameshift mutation and 11 missense mutations in MLH3 in 16 of the 70 index patients (23%). Most of the mutations were found in low-risk patients, suggesting MLH3 to be a low-risk gene for colorectal cancer. Tumors in all index cases with MLH3 mutations were clearly microsatellite instability (MSI)-negative, suggesting that the mechanism in carcinogenesis is not likely to involve deficient mismatch repair (MMR).
See 604395 for a discussion of somatic MLH3 mutation in colorectal and other cancers.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7
|
c1333990
| 26,361 |
omim
|
https://www.omim.org/entry/614385
| 2019-09-22T15:55:25 |
{"doid": ["0070276"], "mesh": ["D003123"], "omim": ["614385"], "orphanet": ["144"]}
|
Tropical acne
SpecialtyDermatology
It has been suggested that this article be merged into Acne. (Discuss) Proposed since January 2021.
Tropical acne is unusually severe acne occurring in the tropics during seasons when the weather is hot and humid.[1][2]:500
Skin conditions including acne are seen with more frequency in dermatological consultations in hot and humid climates, where bacterial and fungal infections are more common, than in drier climates.[3]
## See also[edit]
* List of cutaneous conditions
## References[edit]
1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
3. ^ Gelman, Ari; Norton, Scott; Valdez-Rodriguez, Rodrigo; Yosipovitch, Gil. (2015). A Review of Skin Conditions in Modern Warfare and Peacekeeping Operations. Military Medicine, 180 (1), 32. https://academic.oup.com/milmed/article/180/1/32/4159965
## External links[edit]
* Understanding Acne Blemishes with a Skin Specialist
Classification
D
* ICD-10: L70.3 (ILDS L70.300)
* v
* t
* e
Disorders of skin appendages
Nail
* thickness: Onychogryphosis
* Onychauxis
* color: Beau's lines
* Yellow nail syndrome
* Leukonychia
* Azure lunula
* shape: Koilonychia
* Nail clubbing
* behavior: Onychotillomania
* Onychophagia
* other: Ingrown nail
* Anonychia
* ungrouped: Paronychia
* Acute
* Chronic
* Chevron nail
* Congenital onychodysplasia of the index fingers
* Green nails
* Half and half nails
* Hangnail
* Hapalonychia
* Hook nail
* Ingrown nail
* Lichen planus of the nails
* Longitudinal erythronychia
* Malalignment of the nail plate
* Median nail dystrophy
* Mees' lines
* Melanonychia
* Muehrcke's lines
* Nail–patella syndrome
* Onychoatrophy
* Onycholysis
* Onychomadesis
* Onychomatricoma
* Onychomycosis
* Onychophosis
* Onychoptosis defluvium
* Onychorrhexis
* Onychoschizia
* Platonychia
* Pincer nails
* Plummer's nail
* Psoriatic nails
* Pterygium inversum unguis
* Pterygium unguis
* Purpura of the nail bed
* Racquet nail
* Red lunulae
* Shell nail syndrome
* Splinter hemorrhage
* Spotted lunulae
* Staining of the nail plate
* Stippled nails
* Subungual hematoma
* Terry's nails
* Twenty-nail dystrophy
Hair
Hair loss/
Baldness
* noncicatricial alopecia: Alopecia
* areata
* totalis
* universalis
* Ophiasis
* Androgenic alopecia (male-pattern baldness)
* Hypotrichosis
* Telogen effluvium
* Traction alopecia
* Lichen planopilaris
* Trichorrhexis nodosa
* Alopecia neoplastica
* Anagen effluvium
* Alopecia mucinosa
* cicatricial alopecia: Pseudopelade of Brocq
* Central centrifugal cicatricial alopecia
* Pressure alopecia
* Traumatic alopecia
* Tumor alopecia
* Hot comb alopecia
* Perifolliculitis capitis abscedens et suffodiens
* Graham-Little syndrome
* Folliculitis decalvans
* ungrouped: Triangular alopecia
* Frontal fibrosing alopecia
* Marie Unna hereditary hypotrichosis
Hypertrichosis
* Hirsutism
* Acquired
* localised
* generalised
* patterned
* Congenital
* generalised
* localised
* X-linked
* Prepubertal
Acneiform
eruption
Acne
* Acne vulgaris
* Acne conglobata
* Acne miliaris necrotica
* Tropical acne
* Infantile acne/Neonatal acne
* Excoriated acne
* Acne fulminans
* Acne medicamentosa (e.g., steroid acne)
* Halogen acne
* Iododerma
* Bromoderma
* Chloracne
* Oil acne
* Tar acne
* Acne cosmetica
* Occupational acne
* Acne aestivalis
* Acne keloidalis nuchae
* Acne mechanica
* Acne with facial edema
* Pomade acne
* Acne necrotica
* Blackhead
* Lupus miliaris disseminatus faciei
Rosacea
* Perioral dermatitis
* Granulomatous perioral dermatitis
* Phymatous rosacea
* Rhinophyma
* Blepharophyma
* Gnathophyma
* Metophyma
* Otophyma
* Papulopustular rosacea
* Lupoid rosacea
* Erythrotelangiectatic rosacea
* Glandular rosacea
* Gram-negative rosacea
* Steroid rosacea
* Ocular rosacea
* Persistent edema of rosacea
* Rosacea conglobata
* variants
* Periorificial dermatitis
* Pyoderma faciale
Ungrouped
* Granulomatous facial dermatitis
* Idiopathic facial aseptic granuloma
* Periorbital dermatitis
* SAPHO syndrome
Follicular cysts
* "Sebaceous cyst"
* Epidermoid cyst
* Trichilemmal cyst
* Steatocystoma
* simplex
* multiplex
* Milia
Inflammation
* Folliculitis
* Folliculitis nares perforans
* Tufted folliculitis
* Pseudofolliculitis barbae
* Hidradenitis
* Hidradenitis suppurativa
* Recurrent palmoplantar hidradenitis
* Neutrophilic eccrine hidradenitis
Ungrouped
* Acrokeratosis paraneoplastica of Bazex
* Acroosteolysis
* Bubble hair deformity
* Disseminate and recurrent infundibulofolliculitis
* Erosive pustular dermatitis of the scalp
* Erythromelanosis follicularis faciei et colli
* Hair casts
* Hair follicle nevus
* Intermittent hair–follicle dystrophy
* Keratosis pilaris atropicans
* Kinking hair
* Koenen's tumor
* Lichen planopilaris
* Lichen spinulosus
* Loose anagen syndrome
* Menkes kinky hair syndrome
* Monilethrix
* Parakeratosis pustulosa
* Pili (Pili annulati
* Pili bifurcati
* Pili multigemini
* Pili pseudoannulati
* Pili torti)
* Pityriasis amiantacea
* Plica neuropathica
* Poliosis
* Rubinstein–Taybi syndrome
* Setleis syndrome
* Traumatic anserine folliculosis
* Trichomegaly
* Trichomycosis axillaris
* Trichorrhexis (Trichorrhexis invaginata
* Trichorrhexis nodosa)
* Trichostasis spinulosa
* Uncombable hair syndrome
* Wooly hair nevus
Sweat
glands
Eccrine
* Miliaria
* Colloid milium
* Miliaria crystalline
* Miliaria profunda
* Miliaria pustulosa
* Miliaria rubra
* Occlusion miliaria
* Postmiliarial hypohidrosis
* Granulosis rubra nasi
* Ross’ syndrome
* Anhidrosis
* Hyperhidrosis
* Generalized
* Gustatory
* Palmoplantar
Apocrine
* Body odor
* Chromhidrosis
* Fox–Fordyce disease
Sebaceous
* Sebaceous hyperplasia
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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Tropical acne
|
c0263440
| 26,362 |
wikipedia
|
https://en.wikipedia.org/wiki/Tropical_acne
| 2021-01-18T18:54:28 |
{"umls": ["C0263440"], "icd-10": ["L70.3"], "wikidata": ["Q7846142"]}
|
Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Monosomy 13q34
|
c4707797
| 26,363 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96168
| 2021-01-23T18:54:17 |
{"icd-10": ["Q93.5"], "synonyms": ["Del(13)(q34)", "Distal deletion 13q34", "Subtelomeric deletion 13q34"]}
|
Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.
The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence. Common features of this condition include painful muscle spasms (tetany), muscle weakness or cramping, dizziness, and salt craving. Also common is a tingling or prickly sensation in the skin (paresthesias), most often affecting the face. Some individuals with Gitelman syndrome experience excessive tiredness (fatigue), low blood pressure, and a painful joint condition called chondrocalcinosis. Studies suggest that Gitelman syndrome may also increase the risk of a potentially dangerous abnormal heart rhythm called ventricular arrhythmia.
The signs and symptoms of Gitelman syndrome vary widely, even among affected members of the same family. Most people with this condition have relatively mild symptoms, although affected individuals with severe muscle cramping, paralysis, and slow growth have been reported.
## Frequency
Gitelman syndrome affects an estimated 1 in 40,000 people worldwide.
## Causes
Gitelman syndrome is usually caused by mutations in the SLC12A3 gene. Less often, the condition results from mutations in the CLCNKB gene. The proteins produced from these genes are involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream. Mutations in either gene impair the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). Abnormalities of salt transport also affect the reabsorption of other ions, including ions of potassium, magnesium, and calcium. The resulting imbalance of ions in the body underlies the major features of Gitelman syndrome.
### Learn more about the genes associated with Gitelman syndrome
* CLCNKB
* SLC12A3
## 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Gitelman syndrome
|
c0268450
| 26,364 |
medlineplus
|
https://medlineplus.gov/genetics/condition/gitelman-syndrome/
| 2021-01-27T08:25:35 |
{"gard": ["8547"], "mesh": ["D053579"], "omim": ["263800"], "synonyms": []}
|
Pagetoid reticulosis
SpecialtyDermatology
Pagetoid reticulosis (also known as "acral mycoses fungoides",[1] "localized epidermotropic reticulosis",[1] "mycosis fungoides palmaris et plantaris",[1] "unilesional mycosis fungoides",[2] and "Woringer–Kolopp disease"[1]) is a cutaneous condition, an uncommon lymphoproliferative disorder, sometimes considered a form of mycosis fungoides.[1]:734
## Contents
* 1 Symptoms and Signs
* 2 Diagnosis
* 3 Treatment
* 4 See also
* 5 References
* 6 External links
## Symptoms and Signs[edit]
Lesions emerge as well-demarcated psoriasiform or hyperkeratotic patches and plaques, with a central clearing and an elevated border.[3] Pagetoid reticulosis is a very slow progressive variant of mycosis fungoides and is usually localized unlike the latter.[4]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (June 2017)
## Treatment[edit]
The most common method of treatment includes radiotherapy and/or surgical excision.[5]
## See also[edit]
* Pagetoid
* Cutaneous T-cell lymphoma
* List of cutaneous conditions
## References[edit]
1. ^ a b c d e James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
3. ^ Harvey, Nathan T.; Spagnolo, Dominic V.; Wood, Benjamin A. (2015-12-01). "'Could it be mycosis fungoides?': an approach to diagnosing patch stage mycosis fungoides". Journal of Hematopathology. 8 (4): 209–223. doi:10.1007/s12308-015-0247-2. ISSN 1868-9256.
4. ^ Willemze, Rein; Jaffe, Elaine S.; Burg, Günter; Cerroni, Lorenzo; Berti, Emilio; Swerdlow, Steven H.; Ralfkiaer, Elisabeth; Chimenti, Sergio; Diaz-Perez, José L. (2005-05-15). "WHO-EORTC classification for cutaneous lymphomas" (PDF). Blood. 105 (10): 3768–3785. doi:10.1182/blood-2004-09-3502. ISSN 0006-4971. PMID 15692063.
5. ^ Beigi, Pooya Khan Mohammad (2017). "Variants of Mycosis Fungoides". Clinician's Guide to Mycosis Fungoides. Springer International Publishing. pp. 35–36. doi:10.1007/978-3-319-47907-1_7. ISBN 9783319479064.
## External links[edit]
Classification
D
* ICD-10: C84.0
* ICD-O: 9700/3
* MeSH: D056267
* SNOMED CT: 404119000
External resources
* Orphanet: 178517
* v
* t
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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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Pagetoid reticulosis
|
c1276140
| 26,365 |
wikipedia
|
https://en.wikipedia.org/wiki/Pagetoid_reticulosis
| 2021-01-18T18:39:53 |
{"mesh": ["D056267"], "umls": ["C1276140"], "orphanet": ["178517"], "wikidata": ["Q7124338"]}
|
A number sign (#) is used with this entry because of evidence that autosomal recessive idiopathic basal ganglia calcification-7 (IBGC7) is caused by homozygous or compound heterozygous mutation in the MYORG gene (618255) on chromosome 9p13.
Description
Autosomal recessive idiopathic basal ganglia calcification-7 is a neurologic disorder characterized by onset of symptoms in adulthood. Patients present with dysarthria, gait abnormalities, various movement abnormalities, and often cognitive decline. Brain imaging shows abnormal accumulation of calcium deposits in deep brain regions, including the basal ganglia, thalamus, dentate nuclei, cerebellum, and sometimes other areas of the brain and spinal cord. Some patients with brain imaging abnormalities may be clinically asymptomatic (summary by Yao et al., 2018).
For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600).
Clinical Features
Yao et al. (2018) reported 12 patients from 6 unrelated Chinese families with IBGC7. Eight patients, aged 40 to 55 years, presented in adulthood with variable combinations of dysarthria, ataxia, migraine, and chorea, and 3 of these patients later developed mild cognitive decline. Brain imaging showed calcification of the basal ganglia, dentate nucleus, thalamus, and subcortex. Four patients were clinically asymptomatic between 34 and 53 years of age, but showed intracranial calcifications on brain imaging.
Peng et al. (2019) reported a 43-year-old Chinese woman, born of consanguineous parents, who developed slurred speech, bradykinesia, attention deficits, and cognitive decline around 40 years of age. She also reported refractory, diffuse, and persistent neuropathic burning pain in her right upper and lower limbs. Neurologic examination showed dysarthria, hyporeflexia, and hypoesthesia to pain and temperature in the right upper and lower limbs. Nerve conduction studies were normal, and brain imaging showed calcifications and mild brain atrophy.
Arkadir et al. (2019) reported 2 unrelated families of Middle Eastern origin with IBGC7. One family, likely consanguineous, had 7 affected members; the other family, which was consanguineous, had 2 affected brothers. The median age at symptom onset was 29.5 years (range 21 to 57), and dysarthria was the most common presenting symptom. Additional variable features included bulbar signs, parkinsonism, hyperkinetic movements, chorea, dystonia, pyramidal signs, and cerebellar signs. Four patients complained of cognitive impairment. Brain imaging in all affected individuals showed extensive calcification of the cerebellum, basal ganglia, and thalami. There was also variable calcification of the brainstem, deep midbrain nuclei, and cortical areas, and 3 had punctate calcification in the globus pallidus. One patient was asymptomatic at age 49, but had extensive brain calcifications on imaging.
Forouhideh et al. (2019) reported 4 sibs, born of consanguineous Turkish parents, with IBGC7. The proband was a 43-year-old man who presented with progressive cerebellar dysarthria and developed ataxia, dysphagia, and memory problems. Additional features included hypermetric saccades, dysmetria, and hyperreflexia. Family members reported emotional instability, depressive episodes, and intermittent aggressive behavior. Brain imaging showed basal ganglia calcifications. He had 2 similarly affected brothers, 1 of whom had a psychotic episode. They also had a severely affected sister whose neurologic course was complicated by brain trauma and epilepsy.
Inheritance
The transmission pattern of IBGC7 in the families reported by Yao et al. (2018) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 12 patients from 6 unrelated Chinese families with IBGC7, Yao et al. (2018) identified homozygous or compound heterozygous mutations in the MYORG gene (see, e.g., 618255.0001-618255.0005). Mutations in the first 2 families were found by whole-exome sequencing of a cohort of 51 families with a similar phenotype. Mutations in the subsequent 4 families were found by direct Sanger sequencing of the MYORG gene in 11 additional families. There were 9 mutations, including 3 nonsense, 2 insertion or deletion mutations that affected several amino acids, and 4 missense mutations at highly conserved domains. The mutations were distributed throughout the gene. Functional studies of the variants and studies of patient cells were not performed, but the presence of nonsense mutations suggested a loss of function.
In a Chinese woman, born of consanguineous parents, with IBGC7, Peng et al. (2019) identified a homozygous nonsense mutation in the MYORG gene (Q445X; 618255.0006). The mutation, which was found by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed.
In affected members of 2 unrelated Middle Eastern families with IBGC7, Arkadir et al. (2019) identified homozygous mutations in the MYORG gene (618255.0007 and 618255.0008). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Functional studies of the variants were not performed.
In 4 sibs, born of consanguineous Turkish parents, with IBGC7, Forouhideh et al. (2019) identified a homozygous missense mutation in the MYORG gene (I655T; 618255.0009). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed, but the authors postulated that the mutation may alter the blood-brain barrier.
Animal Model
Yao et al. (2018) found that homozygous Myorg-null mice developed intracranial calcifications in the thalamus around 9 months of age, whereas control mice did not. Yao et al. (2018) hypothesized that brain calcifications arise from dysfunction of the neurovascular unit, which includes the endfeet of astrocytes.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Hypometric saccades ABDOMEN Gastrointestinal \- Dysphagia NEUROLOGIC Central Nervous System \- Dysarthria \- Ataxia \- Abnormal movements \- Dystonia \- Chorea \- Parkinsonism \- Bradykinesia \- Pyramidal signs \- Cerebellar signs \- Dysmetria \- Hyperreflexia \- Migraine \- Cognitive decline \- Memory loss \- Brain imaging shows calcifications in the basal ganglia \- Calcifications may occur elsewhere in the brain, including thalamus, brainstem, subcortex, and cerebellum Peripheral Nervous System \- Neuropathic pain (1 patient) Behavioral Psychiatric Manifestations \- Mood instability (in some patients) \- Psychosis (1 patient) MISCELLANEOUS \- Adult onset (range twenties to fifties) \- Progressive disorder MOLECULAR BASIS \- Caused by mutation in the myogenesis-regulating glycosidase gene (MYORG, 618255.0001 ) ▲ 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE
|
None
| 26,366 |
omim
|
https://www.omim.org/entry/618317
| 2019-09-22T15:42:30 |
{"omim": ["618317"]}
|
Senter syndrome
Other namesDesmons' syndrome[1]
SpecialtyDermatology
Senter syndrome is a cutaneous condition characterized by similar skin changes and congenital hearing impairment to keratitis–ichthyosis–deafness syndrome, but is associated with glycogen storage leading to hepatomegaly, hepatic cirrhosis, growth failure and mental retardation.[2]
## See also[edit]
* HID syndrome
* List of cutaneous conditions
## References[edit]
1. ^ Virginia P. Sybert (9 June 2010). Genetic Skin Disorders. Oxford University Press US. pp. 126–. ISBN 978-0-19-539766-6. Retrieved 17 December 2010.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
## External links[edit]
Classification
D
* OMIM: 148210
* DiseasesDB: 32841
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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Senter syndrome
|
c3665333
| 26,367 |
wikipedia
|
https://en.wikipedia.org/wiki/Senter_syndrome
| 2021-01-18T19:09:30 |
{"mesh": ["C580224"], "orphanet": ["477"], "wikidata": ["Q7451220"]}
|
Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Buerger disease
|
c0040021
| 26,368 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=36258
| 2021-01-23T18:27:47 |
{"gard": ["5969"], "mesh": ["D013919"], "omim": ["211480"], "umls": ["C0040021"], "icd-10": ["I73.1"], "synonyms": ["Thromboangiitis obliterans"]}
|
Parametritis
SpecialtyGynecology
Parametritis, (also known as pelvic cellulitis) is an inflammation of the parametrium (connective tissue adjacent to the uterus).
It is considered a form of pelvic inflammatory disease.[1] It is a type of a Puerperal infection or postpartum infection, which is an infection that occurs when bacteria infect the uterus and surrounding areas after a woman gives birth. It's also known as a postpartum infection.
While there are several types of postpartum infection, Parametritis is inflammation of the ligaments around the uterus. As opposed to endometritis or myometritis, which are infections of the uterine lining and uterine muscle, respectively.[2]
This is an image of pelvic inflammation in women commonly seen with PID.
Parametritis is different from perimetritis which is inflammation of the serosa surrounding the uterus.
## Contents
* 1 Sign and Symptoms
* 2 Cause
* 3 Mechanism/Pathophysiology
* 4 Diagnosis
* 4.1 Acute and chronic parametritis
* 5 Prevention/Treatment
* 6 Prognosis
* 7 Epidemiology
* 8 Research Directions
* 9 References
* 10 External links
## Sign and Symptoms[edit]
These symptoms can occur several days after the discharge from hospital after birth, hence it's critical to check for signs of infection even after the discharge. Some of these could include:[3]
* Fever
* Headaches
* Chills
* An increased heart rate
* Lack of appetite
* Experience pain in the lower abdomen
* Vaginal discharge that is smelly
* Feeling discomfort of illness
## Cause[edit]
Gram-stain of gonococcal urethritis. Scientific classification
Domain: Bacteria
Phylum: Proteobacteria
Class: Betaproteobacteria
Order: Neisseriales
Family: Neisseriaceae
Genus: Neisseria
Species: N. gonorrhoeae
Binomial name
Neisseria gonorrhoeae(Zopf 1885) Trevisan 1885
Synonyms
* Micrococcus der Gonorrhoe Neisser 1879 * Gonococcus neisseri Lindau1898
The infection usually appears after a woman has given birth or has had an abortion.[2] The main cause of this infection is when a bacteria that causes infections become present in the uterus after giving birth or having a D&C. This infection falls under the pelvic inflammatory disease (PID) and the bacteria that causes these infections are N gonorrhoeae and C trachomatis.
## Mechanism/Pathophysiology[edit]
Parametritis is caused by infection in the uterus and spreads to the connective tissue of the pelvic floor. The infection spreads via lymphatics through uterine wall to connective tissue of broad ligament or entire pelvic floor.[4]
## Diagnosis[edit]
Parametritis can be diagnosed by a pelvic examination, blood test, and/or vaginal or cervical swab.[2]
### Acute and chronic parametritis[edit]
There are two forms of parametritis: acute parametritis and chronic parametritis. Acute parametritis would be diagnosed by the symptoms of elevated temperature and pulse as well as slightly uncomfortability . Chronic parametritis the symptoms of the disease are more intense and serious than the acute parametritis this also tend to cause other underlying problems like gonorrhea.[5]
## Prevention/Treatment[edit]
Parametritis is a extremely rare infection that there is not much information on the disease. When a woman is giving birth or having a procedure done in the uterine area doctors are sure to either start a antibiotic before the procedure or prescribe antibiotics afterwards to prevent infections. Postpartum infections are treated depending on the stage of the infection. Parametritis is usually treated with Parametrite therapy, including oral antibiotics to prevent further spread of the infection. A broad spectrum of antibiotic could be given such as fluoroquinolone (ciprofloxacin) in combination with metronidazole for about 5-7 days. In acute stage, the patient might need to be hospitalized. To reduce inflammation on the site, a cold pack is placed on the anterior abdominal wall and best rest is advised. Anesthetics and antipyretic drugs are used. If hospitalized an IV of calcium chloride with 150 xls of 3% solution would be given only if an abscess breaches through the posterior vaginal canal or the anterior abdominal wall. If the infection becomes chronic then prednisalone is given daily in a dose of 20 mg for about 10 days with Indomethacin (NSAIDs).[2]
## Prognosis[edit]
If parametritis infection not cured, it could cause long term problems such as infertility, miscarriage, or damage to the reproductive system.[2] Its important that this infection is diagnosed and caught early on. This infection can cause issues with pregnancy if a woman becomes pregnant with having the infection.
## Epidemiology[edit]
Parametritis is commonly seen In women of reproductive age.[2] This infection is so rare that there is no statistical information.
## Research Directions[edit]
There has not been any research done in humans in over 10 years.
## References[edit]
1. ^ "Broad Ligament Disorders: eMedicine Obstetrics and Gynecology". Retrieved 2010-03-10.
2. ^ a b c d e f "Puerperal Infection: Symptoms, Causes, and Treatment". Healthline. Retrieved 2019-09-21.
3. ^ "Parametritis - symptoms, treatment, diagnosis of parametritis" (in Russian). Retrieved 2019-09-21.
4. ^ "parametritis", The Free Dictionary, retrieved 2020-11-11
5. ^ Martin, August Eduard; Jung, Philipp Jacob (1912). Pathology and Treatment of Diseases of Women. Rebman Company.
## External links[edit]
Classification
D
* ICD-10: N73.0-N73.2
* ICD-9-CM: 614.4
* MeSH: D010249
* SNOMED CT: 280483007
* v
* t
* e
Female diseases of the pelvis and genitals
Internal
Adnexa
Ovary
* Endometriosis of ovary
* Female infertility
* Anovulation
* Poor ovarian reserve
* Mittelschmerz
* Oophoritis
* Ovarian apoplexy
* Ovarian cyst
* Corpus luteum cyst
* Follicular cyst of ovary
* Theca lutein cyst
* Ovarian hyperstimulation syndrome
* Ovarian torsion
Fallopian tube
* Female infertility
* Fallopian tube obstruction
* Hematosalpinx
* Hydrosalpinx
* Salpingitis
Uterus
Endometrium
* Asherman's syndrome
* Dysfunctional uterine bleeding
* Endometrial hyperplasia
* Endometrial polyp
* Endometriosis
* Endometritis
Menstruation
* Flow
* Amenorrhoea
* Hypomenorrhea
* Oligomenorrhea
* Pain
* Dysmenorrhea
* PMS
* Timing
* Menometrorrhagia
* Menorrhagia
* Metrorrhagia
* Female infertility
* Recurrent miscarriage
Myometrium
* Adenomyosis
Parametrium
* Parametritis
Cervix
* Cervical dysplasia
* Cervical incompetence
* Cervical polyp
* Cervicitis
* Female infertility
* Cervical stenosis
* Nabothian cyst
General
* Hematometra / Pyometra
* Retroverted uterus
Vagina
* Hematocolpos / Hydrocolpos
* Leukorrhea / Vaginal discharge
* Vaginitis
* Atrophic vaginitis
* Bacterial vaginosis
* Candidal vulvovaginitis
* Hydrocolpos
Sexual dysfunction
* Dyspareunia
* Hypoactive sexual desire disorder
* Sexual arousal disorder
* Vaginismus
* Urogenital fistulas
* Ureterovaginal
* Vesicovaginal
* Obstetric fistula
* Rectovaginal fistula
* Prolapse
* Cystocele
* Enterocele
* Rectocele
* Sigmoidocele
* Urethrocele
* Vaginal bleeding
* Postcoital bleeding
Other / general
* Pelvic congestion syndrome
* Pelvic inflammatory disease
External
Vulva
* Bartholin's cyst
* Kraurosis vulvae
* Vestibular papillomatosis
* Vulvitis
* Vulvodynia
Clitoral hood or clitoris
* Persistent genital arousal disorder
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Parametritis
|
c0030455
| 26,369 |
wikipedia
|
https://en.wikipedia.org/wiki/Parametritis
| 2021-01-18T19:03:32 |
{"mesh": ["D010249"], "umls": ["C0030455"], "icd-9": ["614.4"], "icd-10": ["N73.2", "N73.0"], "wikidata": ["Q761496"]}
|
Wortsman et al. (1983) described eumetabolic hyperthyroxinemia without alteration in serum protein binding of T4 in a 74-year-old woman. The basic defect appeared to be a selective defect in transport of T4 across the plasma membrane as shown by in vitro studies of erythrocytes. A 53-year-old daughter and a 23-year-old grandson had similar findings. The proband and her daughter had enlarged thyroid glands located mostly substernally. A deceased sister of the proband had had a goiter. Two other children of the proband and 7 other grandchildren were unaffected.
Neck \- Enlarged thyroid located mostly substernally Lab \- Eumetabolic hyperthyroxinemia \- Normal serum protein binding of T4 \- Plasma membrane T4 transport defect 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT
|
c1861101
| 26,370 |
omim
|
https://www.omim.org/entry/188560
| 2019-09-22T16:32:32 |
{"mesh": ["C536916"], "omim": ["188560"], "synonyms": ["Alternative titles", "HYPERTHYROXINEMIA, EUMETABOLIC, DUE TO T4 PLASMA MEMBRANE TRANSPORT", "DEFECT", "THYROID HORMONE RESISTANCE DUE TO T4 PLASMA MEMBRANE TRANSPORT DEFECT"]}
|
Dermographism is a form of urticaria in which a single stroke or scratch of the skin produces a localized wheal with surrounding red flare. It is the most common form of physical urticaria. Although familial cold urticaria (120100) is well known, the first report of familial dermographism is apparently that by Jedele and Michels (1991). They observed 5 affected individuals in 4 generations with no male-to-male transmission. They illustrated the wheal formation on the skin of the back after a single stroke with moderate pressure.
Inheritance \- Autosomal dominant Skin \- Dermographism \- Localized urticarial wheal and flare from a single skin stroke or scratch ▲ 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
DERMOGRAPHISM, FAMILIAL
|
c1852145
| 26,371 |
omim
|
https://www.omim.org/entry/125635
| 2019-09-22T16:42:19 |
{"mesh": ["C536612"], "omim": ["125635"], "synonyms": ["Alternative titles", "DERMATOGRAPHISM, FAMILIAL"]}
|
Bowen et al. (1964) reported malignant intraocular melanoma in a 45-year-old white female and her 26-year-old daughter. Davenport (1927) reported this malignancy in 3 successive generations. The occurrence of cutaneous melanoma and intraocular melanoma as double primary cancers in the same patient and in different members of the same family has suggested that these 2 forms of melanoma may be etiologically related. From their family studies, Greene et al. (1983) concluded that these associations may be coincidental.
Eyes \- Malignant intraocular melanoma 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
MELANOMA, MALIGNANT FAMILIAL INTRAOCULAR
|
c2314896
| 26,372 |
omim
|
https://www.omim.org/entry/155700
| 2019-09-22T16:38:26 |
{"omim": ["155700"], "orphanet": ["618"]}
|
Pyloric stenosis
Other namesPylorostenosis, infantile hypertrophic pyloric stenosis
Outline of stomach, showing its anatomical landmarks, including the pylorus.
SpecialtyGeneral surgery
SymptomsProjectile vomiting after feeding[1]
ComplicationsDehydration, electrolyte problems[1]
Usual onset2 to 12 weeks old[1]
CausesUnknown[2]
Risk factorsCesarean section, preterm birth, bottle feeding, first born[3]
Diagnostic methodphysical examination,[1] ultrasound[4]
Differential diagnosisGastroesophageal reflux,[1] intussusception[5]
TreatmentSurgery[1]
PrognosisExcellent[1]
Frequency1.5 per 1,000 babies[1]
Pyloric stenosis is a narrowing of the opening from the stomach to the first part of the small intestine (the pylorus).[1] Symptoms include projectile vomiting without the presence of bile.[1] This most often occurs after the baby is fed.[1] The typical age that symptoms become obvious is two to twelve weeks old.[1]
The cause of pyloric stenosis is unclear.[2] Risk factors in babies include birth by cesarean section, preterm birth, bottle feeding, and being first born.[3] The diagnosis may be made by feeling an olive-shaped mass in the baby's abdomen.[1] This is often confirmed with ultrasound.[4]
Treatment initially begins by correcting dehydration and electrolyte problems.[1] This is then typically followed by surgery.[1] Results are generally good both in the short term and in the long term.[1] Some treat the condition without surgery by using atropine.[1]
About one to two per 1,000 babies are affected.[1] Males are affected about four times more often than females.[1] The condition is very rare in adults.[6] The first description of pyloric stenosis was in 1888 with surgery management first carried out in 1912 by Conrad Ramstedt.[1][2] Before surgical treatment most babies died.[1]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Pathophysiology
* 4 Diagnosis
* 5 Treatment
* 5.1 Surgery
* 6 Epidemiology
* 7 References
* 8 External links
## Signs and symptoms[edit]
Babies with this condition usually present any time in the first weeks to 6 months of life with progressively worsening vomiting. It is more likely to affect the first-born with males more commonly than females at a ratio of 4 to 1.[7] The vomiting is often described as non-bile stained ("non bilious") and "projectile vomiting", because it is more forceful than the usual spitting up (gastroesophageal reflux) seen at this age. Some infants present with poor feeding and weight loss but others demonstrate normal weight gain. Dehydration may occur which causes a baby to cry without having tears and to produce less wet or dirty diapers due to not urinating for hours or for a few days. Symptoms usually begin between 3 and 12 weeks of age. Findings include epigastric fullness with visible peristalsis in the upper abdomen from the infant's left to right.[8] Constant hunger, belching, and colic are other possible signs that the baby is unable to eat properly.
## Cause[edit]
Rarely, infantile pyloric stenosis can occur as an autosomal dominant condition.[9]It is uncertain whether it is a congenital anatomic narrowing or a functional hypertrophy of the pyloric sphincter muscle.[citation needed]
## Pathophysiology[edit]
The gastric outlet obstruction due to the hypertrophic pylorus impairs emptying of gastric contents into the duodenum. As a consequence, all ingested food and gastric secretions can only exit via vomiting, which can be of a projectile nature. While the exact cause of the hypertrophy remains unknown, one study suggested that neonatal hyperacidity may be involved in the pathogenesis.[10] This physiological explanation for the development of clinical pyloric stenosis at around 4 weeks and its spontaneous long term cure without surgery if treated conservatively, has recently been further reviewed.[11]
Persistent vomiting results in loss of stomach acid (hydrochloric acid). The vomited material does not contain bile because the pyloric obstruction prevents entry of duodenal contents (containing bile) into the stomach. The chloride loss results in a low blood chloride level which impairs the kidney's ability to excrete bicarbonate. This is the factor that prevents correction of the alkalosis leading to metabolic alkalosis.[12]
A secondary hyperaldosteronism develops due to the decreased blood volume. The high aldosterone levels causes the kidneys to avidly retain Na+ (to correct the intravascular volume depletion), and excrete increased amounts of K+ into the urine (resulting in a low blood level of potassium).[citation needed]The body's compensatory response to the metabolic alkalosis is hypoventilation resulting in an elevated arterial pCO2.
## Diagnosis[edit]
Pyloric stenosis as seen on ultrasound in a 6 week old[13]
Diagnosis is via a careful history and physical examination, often supplemented by radiographic imaging studies. Pyloric stenosis should be suspected in any young infant with severe vomiting. On physical exam, palpation of the abdomen may reveal a mass in the epigastrium. This mass, which consists of the enlarged pylorus, is referred to as the 'olive',[14] and is sometimes evident after the infant is given formula to drink. Rarely, there are peristaltic waves that may be felt or seen (video on NEJM) due to the stomach trying to force its contents past the narrowed pyloric outlet.[citation needed]
Most cases of pyloric stenosis are diagnosed/confirmed with ultrasound, if available, showing the thickened pylorus and non-passage of gastric contents into the proximal duodenum. Muscle wall thickness 3 millimeters (mm) or greater and pyloric channel length of 15 mm or greater are considered abnormal in infants younger than 30 days. Gastric contents should not be seen passing through the pylorus because if it does, pyloric stenosis should be excluded and other differential diagnoses such as pylorospasm should be considered. The positions of superior mesenteric artery and superior mesenteric vein should be noted because altered positions of the these two vessels would be suggestive of intestinal malrotation instead of pyloric stenosis.[7]
Although the baby is exposed to radiation, an upper GI series (x-rays taken after the baby drinks a special contrast agent) can be diagnostic by showing the pylorus with elongated, narrow lumen and a dent in the duodenal bulb.[7] A "string sign" or the "railroad track sign". For either type of study, there are specific measurement criteria used to identify the abnormal results. Plain x-rays of the abdomen sometimes shows a dilated stomach.Although UGI endoscopy would demonstrate pyloric obstruction, physicians would find it difficult to differentiate accurately between hypertrophic pyloric stenosis and pylorospasm.[citation needed]
Blood tests will reveal low blood levels of potassium and chloride in association with an increased blood pH and high blood bicarbonate level due to loss of stomach acid (which contains hydrochloric acid) from persistent vomiting. There will be exchange of extracellular potassium with intracellular hydrogen ions in an attempt to correct the pH imbalance. These findings can be seen with severe vomiting from any cause.[citation needed]
## Treatment[edit]
Vertical Pyloromyotomy scar (large) 30 hrs post-op in a one-month-old baby
Horizontal Pyloromyotomy scar 10 days post-op in a one-month-old baby
Infantile pyloric stenosis is typically managed with surgery;[15] very few cases are mild enough to be treated medically.
The danger of pyloric stenosis comes from the dehydration and electrolyte disturbance rather than the underlying problem itself. Therefore, the baby must be initially stabilized by correcting the dehydration and the abnormally high blood pH seen in combination with low chloride levels with IV fluids. This can usually be accomplished in about 24–48 hours.[citation needed]
Intravenous and oral atropine may be used to treat pyloric stenosis. It has a success rate of 85-89% compared to nearly 100% for pyloromyotomy, however it requires prolonged hospitalization, skilled nursing and careful follow up during treatment.[16] It might be an alternative to surgery in children who have contraindications for anesthesia or surgery, or in children whose parents do not want surgery.
### Surgery[edit]
The definitive treatment of pyloric stenosis is with surgical pyloromyotomy known as Ramstedt's procedure (dividing the muscle of the pylorus to open up the gastric outlet). This surgery can be done through a single incision (usually 3–4 cm long) or laparoscopically (through several tiny incisions), depending on the surgeon's experience and preference.[17]
Today, the laparoscopic technique has largely supplanted the traditional open repairs which involved either a tiny circular incision around the navel or the Ramstedt procedure. Compared to the older open techniques, the complication rate is equivalent, except for a markedly lower risk of wound infection.[18] This is now considered the standard of care at the majority of children's hospitals across the US, although some surgeons still perform the open technique. Following repair, the small 3mm incisions are hard to see.
The vertical incision, pictured and listed above, is no longer usually required, though many incisions have been horizontal in the past years.Once the stomach can empty into the duodenum, feeding can begin again. Some vomiting may be expected during the first days after surgery as the gastrointestinal tract settles. Rarely, the myotomy procedure performed is incomplete and projectile vomiting continues, requiring repeat surgery. Pyloric stenosis generally has no long term side-effects or impact on the child's future.[citation needed]
## Epidemiology[edit]
Males are more commonly affected than females, with firstborn males affected about four times as often, and there is a genetic predisposition for the disease.[19] It is commonly associated with people of Scandinavian ancestry, and has multifactorial inheritance patterns.[9] Pyloric stenosis is more common in Caucasians than Hispanics, Blacks, or Asians. The incidence is 2.4 per 1000 live births in Caucasians, 1.8 in Hispanics, 0.7 in Blacks, and 0.6 in Asians. It is also less common amongst children of mixed race parents.[20] Caucasian male babies with blood type B or O are more likely than other types to be affected.[19]
Infants exposed to erythromycin are at increased risk for developing hypertrophic pyloric stenosis, especially when the drug is taken around two weeks of life[21] and possibly in late pregnancy and through breastmilk in the first two weeks of life.[22]
## References[edit]
1. ^ a b c d e f g h i j k l m n o p q r s t u Ranells JD, Carver JD, Kirby RS (2011). "Infantile hypertrophic pyloric stenosis: epidemiology, genetics, and clinical update". Advances in Pediatrics. 58 (1): 195–206. doi:10.1016/j.yapd.2011.03.005. PMID 21736982.
2. ^ a b c Georgoula C, Gardiner M (August 2012). "Pyloric stenosis a 100 years after Ramstedt". Archives of Disease in Childhood. 97 (8): 741–5. doi:10.1136/archdischild-2011-301526. PMID 22685043. S2CID 2780184.
3. ^ a b Zhu J, Zhu T, Lin Z, Qu Y, Mu D (September 2017). "Perinatal risk factors for infantile hypertrophic pyloric stenosis: A meta-analysis". Journal of Pediatric Surgery. 52 (9): 1389–1397. doi:10.1016/j.jpedsurg.2017.02.017. PMID 28318599.
4. ^ a b Pandya S, Heiss K (June 2012). "Pyloric stenosis in pediatric surgery: an evidence-based review". The Surgical Clinics of North America. 92 (3): 527–39, vii–viii. doi:10.1016/j.suc.2012.03.006. PMID 22595707.
5. ^ Marsicovetere P, Ivatury SJ, White B, Holubar SD (February 2017). "Intestinal Intussusception: Etiology, Diagnosis, and Treatment". Clinics in Colon and Rectal Surgery. 30 (1): 30–39. doi:10.1055/s-0036-1593429. PMC 5179276. PMID 28144210.
6. ^ Hellan M, Lee T, Lerner T (February 2006). "Diagnosis and therapy of primary hypertrophic pyloric stenosis in adults: case report and review of literature". Journal of Gastrointestinal Surgery. 10 (2): 265–9. doi:10.1016/j.gassur.2005.06.003. PMID 16455460. S2CID 25249604.
7. ^ a b c Naffaa L, Barakat A, Baassiri A, Atweh LA (July 2019). "Imaging Acute Non-Traumatic Abdominal Pathologies in Pediatric Patients: A Pictorial Review". Journal of Radiology Case Reports. 13 (7): 29–43. doi:10.3941/jrcr.v13i7.3443. PMC 6738493. PMID 31558965.
8. ^ "Pyloric stenosis: Symptoms". MayoClinic.com. 2010-08-21. Archived from the original on 2012-02-25. Retrieved 2012-02-21.
9. ^ a b Fried K, Aviv S, Nisenbaum C (November 1981). "Probable autosomal dominant infantile pyloric stenosis in a large kindred". Clinical Genetics. 20 (5): 328–30. doi:10.1111/j.1399-0004.1981.tb01043.x. PMID 7333028.
10. ^ Rogers, Ian; Vanderbom, Frederick (2014-02-26). The Consequence and Cause of Pyloric Stenosis of Infancy. More Books Lembert Academic Publishers. ISBN 978-3-659-52125-6.
11. ^ Rogers IM (December 2014). "Pyloric stenosis of infancy and primary hyperacidity--the missing link". Acta Paediatrica. 103 (12): e558-60. doi:10.1111/apa.12795. PMID 25178682.
12. ^ Kerry Brandis, Acid-Base Physiology Archived 2005-12-10 at the Wayback Machine. Retrieved December 31, 2006.
13. ^ Dawes, Laughlin. "Pyloric stenosis | Radiology Case | Radiopaedia.org". radiopaedia.org. Archived from the original on 20 April 2017. Retrieved 20 April 2017.
14. ^ Shaoul R, Enav B, Steiner Z, Mogilner J, Jaffe M (March 2004). "Clinical presentation of pyloric stenosis: the change is in our hands" (PDF). The Israel Medical Association Journal. 6 (3): 134–7. PMID 15055266.
15. ^ Askew N (October 2010). "An overview of infantile hypertrophic pyloric stenosis". Paediatric Nursing. 22 (8): 27–30. doi:10.7748/paed.22.8.27.s27. PMID 21066945.
16. ^ Aspelund G, Langer JC (February 2007). "Current management of hypertrophic pyloric stenosis". Seminars in Pediatric Surgery. 16 (1): 27–33. doi:10.1053/j.sempedsurg.2006.10.004. PMID 17210480.
17. ^ "Medical News:Laparoscopic Repair of Pediatric Pyloric Stenosis May Speed Recovery - in Surgery, Thoracic Surgery from". MedPage Today. 2009-01-16. Archived from the original on 2012-02-23. Retrieved 2012-02-21.
18. ^ Sola JE, Neville HL (August 2009). "Laparoscopic vs open pyloromyotomy: a systematic review and meta-analysis". Journal of Pediatric Surgery. 44 (8): 1631–7. doi:10.1016/j.jpedsurg.2009.04.001. PMID 19635317.
19. ^ a b Dowshen, Steven (November 2007). "Pyloric Stenosis". The Nemours Foundation. Archived from the original on 2008-01-12. Retrieved 2007-12-30.
20. ^ Pediatrics, Pyloric Stenosis at eMedicine
21. ^ Maheshwai N (March 2007). "Are young infants treated with erythromycin at risk for developing hypertrophic pyloric stenosis?". Archives of Disease in Childhood. 92 (3): 271–3. doi:10.1136/adc.2006.110007. PMC 2083424. PMID 17337692.
22. ^ Kong YL, Tey HL (June 2013). "Treatment of acne vulgaris during pregnancy and lactation". Drugs. 73 (8): 779–87. doi:10.1007/s40265-013-0060-0. PMID 23657872. S2CID 45531743.
## External links[edit]
* 00675 at CHORUS
* Peristaltic waves video on NEJM
Classification
D
* ICD-10: Q40.0
* ICD-9-CM: 537.0, 750.5
* MeSH: D046248
* DiseasesDB: 11060
External resources
* MedlinePlus: 000970
* eMedicine: emerg/397 radio/358, article/929829
* v
* t
* e
Diseases of the digestive system
Upper GI tract
Esophagus
* Esophagitis
* Candidal
* Eosinophilic
* Herpetiform
* Rupture
* Boerhaave syndrome
* Mallory–Weiss syndrome
* UES
* Zenker's diverticulum
* LES
* Barrett's esophagus
* Esophageal motility disorder
* Nutcracker esophagus
* Achalasia
* Diffuse esophageal spasm
* Gastroesophageal reflux disease (GERD)
* Laryngopharyngeal reflux (LPR)
* Esophageal stricture
* Megaesophagus
* Esophageal intramural pseudodiverticulosis
Stomach
* Gastritis
* Atrophic
* Ménétrier's disease
* Gastroenteritis
* Peptic (gastric) ulcer
* Cushing ulcer
* Dieulafoy's lesion
* Dyspepsia
* Pyloric stenosis
* Achlorhydria
* Gastroparesis
* Gastroptosis
* Portal hypertensive gastropathy
* Gastric antral vascular ectasia
* Gastric dumping syndrome
* Gastric volvulus
* Buried bumper syndrome
* Gastrinoma
* Zollinger–Ellison syndrome
Lower GI tract
Enteropathy
Small intestine
(Duodenum/Jejunum/Ileum)
* Enteritis
* Duodenitis
* Jejunitis
* Ileitis
* Peptic (duodenal) ulcer
* Curling's ulcer
* Malabsorption: Coeliac
* Tropical sprue
* Blind loop syndrome
* Small bowel bacterial overgrowth syndrome
* Whipple's
* Short bowel syndrome
* Steatorrhea
* Milroy disease
* Bile acid malabsorption
Large intestine
(Appendix/Colon)
* Appendicitis
* Colitis
* Pseudomembranous
* Ulcerative
* Ischemic
* Microscopic
* Collagenous
* Lymphocytic
* Functional colonic disease
* IBS
* Intestinal pseudoobstruction / Ogilvie syndrome
* Megacolon / Toxic megacolon
* Diverticulitis/Diverticulosis/SCAD
Large and/or small
* Enterocolitis
* Necrotizing
* Gastroenterocolitis
* IBD
* Crohn's disease
* Vascular: Abdominal angina
* Mesenteric ischemia
* Angiodysplasia
* Bowel obstruction: Ileus
* Intussusception
* Volvulus
* Fecal impaction
* Constipation
* Diarrhea
* Infectious
* Intestinal adhesions
Rectum
* Proctitis
* Radiation proctitis
* Proctalgia fugax
* Rectal prolapse
* Anismus
Anal canal
* Anal fissure/Anal fistula
* Anal abscess
* Hemorrhoid
* Anal dysplasia
* Pruritus ani
GI bleeding
* Blood in stool
* Upper
* Hematemesis
* Melena
* Lower
* Hematochezia
Accessory
Liver
* Hepatitis
* Viral hepatitis
* Autoimmune hepatitis
* Alcoholic hepatitis
* Cirrhosis
* PBC
* Fatty liver
* NASH
* Vascular
* Budd–Chiari syndrome
* Hepatic veno-occlusive disease
* Portal hypertension
* Nutmeg liver
* Alcoholic liver disease
* Liver failure
* Hepatic encephalopathy
* Acute liver failure
* Liver abscess
* Pyogenic
* Amoebic
* Hepatorenal syndrome
* Peliosis hepatis
* Metabolic disorders
* Wilson's disease
* Hemochromatosis
Gallbladder
* Cholecystitis
* Gallstone / Cholelithiasis
* Cholesterolosis
* Adenomyomatosis
* Postcholecystectomy syndrome
* Porcelain gallbladder
Bile duct/
Other biliary tree
* Cholangitis
* Primary sclerosing cholangitis
* Secondary sclerosing cholangitis
* Ascending
* Cholestasis/Mirizzi's syndrome
* Biliary fistula
* Haemobilia
* Common bile duct
* Choledocholithiasis
* Biliary dyskinesia
* Sphincter of Oddi dysfunction
Pancreatic
* Pancreatitis
* Acute
* Chronic
* Hereditary
* Pancreatic abscess
* Pancreatic pseudocyst
* Exocrine pancreatic insufficiency
* Pancreatic fistula
Other
Hernia
* Diaphragmatic
* Congenital
* Hiatus
* Inguinal
* Indirect
* Direct
* Umbilical
* Femoral
* Obturator
* Spigelian
* Lumbar
* Petit's
* Grynfeltt-Lesshaft
* Undefined location
* Incisional
* Internal hernia
* Richter's
Peritoneal
* Peritonitis
* Spontaneous bacterial peritonitis
* Hemoperitoneum
* Pneumoperitoneum
* v
* t
* e
Congenital malformations and deformations of digestive system
Upper GI tract
Tongue, mouth and pharynx
* Cleft lip and palate
* Van der Woude syndrome
* tongue
* Ankyloglossia
* Macroglossia
* Hypoglossia
Esophagus
* EA/TEF
* Esophageal atresia: types A, B, C, and D
* Tracheoesophageal fistula: types B, C, D and E
* esophageal rings
* Esophageal web (upper)
* Schatzki ring (lower)
Stomach
* Pyloric stenosis
* Hiatus hernia
Lower GI tract
Intestines
* Intestinal atresia
* Duodenal atresia
* Meckel's diverticulum
* Hirschsprung's disease
* Intestinal malrotation
* Dolichocolon
* Enteric duplication cyst
Rectum/anal canal
* Imperforate anus
* Rectovestibular fistula
* Persistent cloaca
* Rectal atresia
Accessory
Pancreas
* Annular pancreas
* Accessory pancreas
* Johanson–Blizzard syndrome
* Pancreas divisum
Bile duct
* Choledochal cysts
* Caroli disease
* Biliary atresia
Liver
* Alagille syndrome
* Polycystic liver 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Pyloric stenosis
|
c0034194
| 26,373 |
wikipedia
|
https://en.wikipedia.org/wiki/Pyloric_stenosis
| 2021-01-18T19:01:30 |
{"mesh": ["D011707"], "umls": ["C0034194"], "icd-9": ["750.5", "537.0"], "wikidata": ["Q1027995"]}
|
1q21.1 microduplication is a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally copied (duplicated). The duplication occurs on the long (q) arm of the chromosome at a location designated q21.1.
Some people with a 1q21.1 microduplication have developmental delay and intellectual disability that is typically mild to moderate. Individuals with this condition can also have features of autism spectrum disorder. These disorders are characterized by impaired communication and socialization skills, as well as delayed development of speech and language. Expressive language skills (vocabulary and the production of speech) tend to be more impaired than receptive language skills (the ability to understand speech) in affected individuals. In childhood, 1q21.1 microduplications may also be associated with an increased risk of attention-deficit/hyperactivity disorder (ADHD) and other behavioral problems. Psychiatric disorders such as schizophrenia or mood disorders such as anxiety or depression occur in some affected individuals, usually during adulthood. Rarely, recurrent seizures (epilepsy) occur in people with a 1q21.1 microduplication.
Some individuals with a 1q21.1 microduplication are born with malformations of the heart, including a particular combination of heart defects known as tetralogy of Fallot. Less commonly, other physical malformations such as the urethra opening on the underside of the penis (hypospadias) in males, inward- and upward-turning feet (clubfeet), or misalignment of the hip joint (hip dysplasia) are present at birth. Individuals with a 1q21.1 microduplication may also have a larger than average head size or taller than average adult stature. Some have slightly unusual facial features such as wide-set eyes or low-set ears. As adults, individuals with a 1q21.1 microduplication may be prone to develop cysts, swollen and knotted (varicose) veins, or carpal tunnel syndrome, which is characterized by numbness, tingling, and weakness in the hands and fingers. However, there is no particular pattern of physical abnormalities that characterizes 1q21.1 microduplications. Signs and symptoms related to the chromosomal change vary even among affected members of the same family. Some people with the duplication have no identified physical, intellectual, or behavioral abnormalities.
## Frequency
1q21.1 microduplications occur in about 3 in 10,000 individuals in the general population. Studies suggest that these chromosomal changes are 15 to 20 times more common in people with schizophrenia or tetralogy of Fallot. Many people with 1q21.1 microduplications are likely never diagnosed because the features of this condition can have a variety of causes. In addition, some people with this chromosomal change have no related health or developmental problems that would bring them to medical attention.
## Causes
People with a 1q21.1 microduplication have a duplicated segment of genetic material at position q21.1 on one of the two copies of chromosome 1 in each cell. The length of the duplicated segment can vary. The most common duplication involves about 1.35 million DNA building blocks (also written as 1.35 megabases or 1.35 Mb), and is known as the recurrent distal 1.35-Mb duplication. In other cases, individuals have a shorter or longer duplicated segment within the q21.1 region of chromosome 1. Extra copies of genes in the duplicated segment likely contribute to the signs and symptoms that occur in some individuals with 1q21.1 microduplications; researchers are working to determine which specific genes are involved and how they relate to these features. Because some people with a 1q21.1 microduplication have no apparent features of the condition, additional genetic or environmental factors are thought to be involved in the development of signs and symptoms.
### Learn more about the chromosome associated with 1q21.1 microduplication
* chromosome 1
## Inheritance Pattern
1q21.1 microduplication is considered to be an autosomal dominant condition, which means that a duplicated segment on one copy of chromosome 1 in each cell is sufficient to increase the risk of the associated features. Many affected individuals inherit the duplication from one parent who has the chromosomal change, although not necessarily the same associated features. In other affected individuals, the 1q21.1 microduplication is not inherited. Instead, it occurs as a random event, usually during the formation of reproductive cells (eggs and sperm) before the individual is conceived. People with a new duplication typically have no history of related signs or symptoms in their family, although they can pass the duplication on to their children.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
1q21.1 microduplication
|
c2675891
| 26,374 |
medlineplus
|
https://medlineplus.gov/genetics/condition/1q211-microduplication/
| 2021-01-27T08:25:40 |
{"gard": ["10591"], "mesh": ["C567290"], "omim": ["612475"], "synonyms": []}
|
Pseudoxanthoma elasticum, PXE, is an inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinations with their primary physician.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Pseudoxanthoma elasticum
|
c0033847
| 26,375 |
gard
|
https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum
| 2021-01-18T17:58:05 |
{"mesh": ["D011561"], "omim": ["264800"], "orphanet": ["758"], "synonyms": ["PXE", "Gronblad Strandberg syndrome"]}
|
## Clinical Features
Blair et al. (2000) described a consanguineous family of Pakistani origin in which 3 of 5 sibs had craniosynostosis of variable presentation. In addition, they had other congenital abnormalities, principally affecting ocular and limb development. The eldest daughter had global developmental delay from an early age, long face with a prominent nasal bridge, inner canthal distance of 3.2 cm, short philtrum with narrow upper lip, highly arched palate, cleft uvula, and a left divergent squint with abnormal eye movements and associated elevation of each eye on adduction. The next oldest daughter also had global developmental delay from an early age, long face with a prominent nasal bridge, short philtrum and narrow upper lip, asymmetric, low-set, and posteriorly rotated ears, bilateral colobomata of the iris, choroid, and optic disc associated with microphthalmia, horizontal pendular nystagmus, convergent squint, long and narrow fingers, and bilateral postaxial duplication of the fifth toe.
Mapping
Using intragenic and flanking microsatellite markers, Blair et al. (2000) developed linkage evidence that the disorder in this family was not caused by a mutation in any of the then-known craniosynostosis loci, including FGFR1 (136350), FGFR2 (176943), FGFR3 (134934), MSX2 (123101), and TWIST1 (601622).
Inheritance
Given the clinical novelty of the disorder and parental consanguinity in this family, Blair et al. (2000) hypothesized that the affected individuals were homozygous for a recessively inherited mutation at a novel locus predisposing to craniosynostosis.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
CRANIOSYNOSTOSIS SYNDROME, AUTOSOMAL RECESSIVE
|
c1847865
| 26,376 |
omim
|
https://www.omim.org/entry/606529
| 2019-09-22T16:10:20 |
{"mesh": ["C564700"], "omim": ["606529"]}
|
Hartnup disease is a condition caused by the body's inability to absorb certain protein building blocks (amino acids) from the diet. As a result, affected individuals are not able to use these amino acids to produce other substances, such as vitamins and proteins. Most people with Hartnup disease are able to get the vitamins and other substances they need with a well-balanced diet.
People with Hartnup disease have high levels of various amino acids in their urine (aminoaciduria). For most affected individuals, this is the only sign of the condition. However, some people with Hartnup disease have episodes during which they exhibit other signs, which can include skin rashes; difficulty coordinating movements (cerebellar ataxia); and psychiatric symptoms, such as depression or psychosis. These episodes are typically temporary and are often triggered by illness, stress, nutrient-poor diet, or fever. These features tend to go away once the trigger is remedied, although the aminoaciduria remains. In affected individuals, signs and symptoms most commonly occur in childhood.
## Frequency
Hartnup disease is estimated to affect 1 in 30,000 individuals.
## Causes
Hartnup disease is caused by mutations in the SLC6A19 gene. This gene provides instructions for making a protein called B0AT1, which is primarily found embedded in the membrane of intestine and kidney cells. The function of this protein is to transport certain amino acids into cells. In the intestines, amino acids from food are transported into intestinal cells then released into the bloodstream so the body can use them. In the kidneys, amino acids are reabsorbed into the bloodstream instead of being removed from the body in urine. In the body, these amino acids are used in the production of many other substances, including vitamins and proteins. One particular amino acid transported by B0AT1, tryptophan, is needed to produce vitamin B3 (also known as niacin).
SLC6A19 gene mutations result in the production of a B0AT1 protein with reduced activity. As a result, specific amino acids cannot be taken in by cells and are instead removed from the body as waste. Because these amino acids are removed from the body without being used, people with this condition may be lacking (deficient) in certain amino acids and vitamins. However, individuals who are nutrient-deficient due to their diet, illness, stress, or a variety of other reasons, can develop serious signs and symptoms of this condition including rashes, cerebellar ataxia, and psychiatric symptoms. Researchers believe that many of these features are related to a deficiency of tryptophan and niacin, specifically.
### Learn more about the gene associated with Hartnup disease
* SLC6A19
## 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Hartnup disease
|
c0018609
| 26,377 |
medlineplus
|
https://medlineplus.gov/genetics/condition/hartnup-disease/
| 2021-01-27T08:25:25 |
{"gard": ["6569"], "mesh": ["D006250"], "omim": ["234500"], "synonyms": []}
|
Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. The skin abnormalities are present from birth and can include streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases. They also may abnormalities in the nails, hands, and feet. Some of the eye findings present may include small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. People with focal dermal hypoplasia may also have distinctive facial features such as a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Most individuals with this condition are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability. This condition is caused by mutations in the PORCN gene and is inherited in an X-linked dominant manner. Most cases of focal dermal hypoplasia in females result from new mutations in the PORCN gene and occur in people with no history of the disorder in their family. When focal dermal hypoplasia occurs in males, it always results from a new mutation in this gene that is not inherited. Treatment is based on the signs and symptoms present in the person; however, care usually involves a team of specialists, including dermatologists, otolaryngologist, physical/occupational therapists, and hand surgeons.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Focal dermal hypoplasia
|
c0016395
| 26,378 |
gard
|
https://rarediseases.info.nih.gov/diseases/6457/focal-dermal-hypoplasia
| 2021-01-18T18:00:27 |
{"mesh": ["D005489"], "omim": ["305600"], "umls": ["C0016395"], "orphanet": ["2092"], "synonyms": ["DHOF", "FODH", "FDH", "Goltz Syndrome", "Goltz Gorlin Syndrome", "Goltz-Gorlin syndrome"]}
|
"Scared" redirects here. For other uses, see Scared (disambiguation) and Fear (disambiguation).
Basic emotion induced by a perceived threat
Part of a series on
Emotions
* Acceptance
* Affection
* Amusement
* Anger
* Angst
* Anguish
* Annoyance
* Anticipation
* Anxiety
* Apathy
* Arousal
* Awe
* Boredom
* Confidence
* Contempt
* Contentment
* Courage
* Curiosity
* Depression
* Desire
* Disappointment
* Disgust
* Distrust
* Doubt
* Ecstasy
* Embarrassment
* Empathy
* Enthusiasm
* Envy
* Euphoria
* Faith
* Fear
* Frustration
* Gratification
* Gratitude
* Greed
* Grief
* Guilt
* Happiness
* Hatred
* Hope
* Horror
* Hostility
* Humiliation
* Interest
* Jealousy
* Joy
* Kindness
* Loneliness
* Love
* Lust
* Nostalgia
* Outrage
* Panic
* Passion
* Pity
* Pleasure
* Pride
* Rage
* Regret
* Rejection
* Remorse
* Resentment
* Sadness
* Self-pity
* Shame
* Shock
* Shyness
* Social connection
* Sorrow
* Suffering
* Surprise
* Trust
* Wonder
* Worry
* v
* t
* e
A girl showing signs of fear and anxiety in an uncertain environment
Fear is an emotion induced by perceived danger or threat, which causes physiological changes and ultimately behavioral changes, such as fleeing, hiding, or freezing from perceived traumatic events. Fear in human beings may occur in response to a certain stimulus occurring in the present, or in anticipation or expectation of a future threat perceived as a risk to oneself. The fear response arises from the perception of danger leading to confrontation with or escape from/avoiding the threat (also known as the fight-or-flight response), which in extreme cases of fear (horror and terror) can be a freeze response or paralysis.
In humans and other animals, fear is modulated by the process of cognition and learning. Thus fear is judged as rational or appropriate and irrational or inappropriate. An irrational fear is called a phobia.
Fear is closely related to the emotion anxiety, which occurs as the result of threats that are perceived to be uncontrollable or unavoidable.[1] The fear response serves survival by engendering appropriate behavioral responses, so it has been preserved throughout evolution.[2] Sociological and organizational research also suggests that individuals' fears are not solely dependent on their nature but are also shaped by their social relations and culture, which guide their understanding of when and how much fear to feel.[3][better source needed]
## Contents
* 1 Physiological signs
* 2 Causes
* 2.1 Innate fear
* 2.2 Learned fear
* 3 Common triggers
* 3.1 Phobias
* 3.2 Fear of the unknown
* 3.3 In U.S.
* 4 Fear behavior
* 5 Mechanism
* 5.1 Neurocircuit in mammals
* 5.1.1 Pheromones and why fear can be contagious
* 5.1.2 Fear pheromones in humans
* 5.2 Cognitive-consistency theory
* 6 Management
* 6.1 Pharmaceutical
* 6.2 Psychology
* 6.3 Other treatments
* 7 Inability to experience fear
* 8 Society and culture
* 8.1 Death
* 8.1.1 Fear of death
* 8.2 Religion
* 8.3 Manipulation
* 8.4 Fiction and mythology
* 8.5 Athletics
* 9 See also
* 10 References
* 11 Further reading
* 12 External links
## Physiological signs[edit]
"The Man Made Mad with Fear", a painting by Gustave Courbet.
Many physiological changes in the body are associated with fear, summarized as the fight-or-flight response. An innate response for coping with danger, it works by accelerating the breathing rate (hyperventilation), heart rate, vasoconstriction of the peripheral blood vessels leading to blushing and sanskadania of the central vessels (pooling), increasing muscle tension including the muscles attached to each hair follicle to contract and causing "goosebumps", or more clinically, piloerection (making a cold person warmer or a frightened animal look more impressive), sweating, increased blood glucose (hyperglycemia), increased serum calcium, increase in white blood cells called neutrophilic leukocytes, alertness leading to sleep disturbance and "butterflies in the stomach" (dyspepsia). This primitive mechanism may help an organism survive by either running away or fighting the danger.[4] With the series of physiological changes, the consciousness realizes an emotion of fear.
## Causes[edit]
An influential categorization of stimuli causing fear was proposed by Gray;[5] namely, intensity, novelty, special evolutionary dangers, stimuli arising during social interaction, and conditioned stimuli.[6] Another categorization was proposed by Archer,[7] who, besides conditioned fear stimuli, categorized fear-evoking (as well as aggression-evoking) stimuli into three groups; namely, pain, novelty, and frustration, although he also described “looming,” which refers to an object rapidly moving towards the visual sensors of a subject, and can be categorized as “intensity.” Russell[8] described a more functional categorization of fear-evoking stimuli, in which for instance novelty is a variable affecting more than one category: 1) Predator stimuli (including movement, suddenness, proximity, but also learned and innate predator stimuli); 2) Physical environmental dangers (including intensity and heights); 3) Stimuli associated with increased risk of predation and other dangers (including novelty, openness, illumination, and being alone); 4) Stimuli stemming from conspecifics (including novelty, movement, and spacing behavior); 5) Species-predictable fear stimuli and experience (special evolutionary dangers); and 6) Fear stimuli that are not species predictable (conditioned fear stimuli).
### Innate fear[edit]
A prisoner at Abu Graib shows fear of a US army dog during prisoner abuse.
Although many fears are learned, the capacity to fear is part of human nature. Many studies[9] have found that certain fears (e.g. animals, heights) are much more common than others (e.g. flowers, clouds). These fears are also easier to induce in the laboratory. This phenomenon is known as preparedness. Because early humans that were quick to fear dangerous situations were more likely to survive and reproduce, preparedness is theorized to be a genetic effect that is the result of natural selection.[10]
From an evolutionary psychology perspective, different fears may be different adaptations that have been useful in our evolutionary past. They may have developed during different time periods. Some fears, such as fear of heights, may be common to all mammals and developed during the mesozoic period. Other fears, such as fear of snakes, may be common to all simians and developed during the cenozoic time period. Still others, such as fear of mice and insects, may be unique to humans and developed during the paleolithic and neolithic time periods (when mice and insects become important carriers of infectious diseases and harmful for crops and stored foods).[11]
### Learned fear[edit]
Main article: Fear conditioning
Animals and humans innovate specific fears as a result of learning. This has been studied in psychology as fear conditioning, beginning with John B. Watson's Little Albert experiment in 1920, which was inspired after observing a child with an irrational fear of dogs. In this study, an 11-month-old boy was conditioned to fear a white rat in the laboratory. The fear became generalized to include other white, furry objects, such as a rabbit, dog, and even a ball of cotton.
Fear can be learned by experiencing or watching a frightening traumatic accident. For example, if a child falls into a well and struggles to get out, he or she may develop a fear of wells, heights (acrophobia), enclosed spaces (claustrophobia), or water (aquaphobia). There are studies looking at areas of the brain that are affected in relation to fear. When looking at these areas (such as the amygdala), it was proposed that a person learns to fear regardless of whether they themselves have experienced trauma, or if they have observed the fear in others. In a study completed by Andreas Olsson, Katherine I. Nearing and Elizabeth A. Phelps, the amygdala were affected both when subjects observed someone else being submitted to an aversive event, knowing that the same treatment awaited themselves, and when subjects were subsequently placed in a fear-provoking situation.[12] This suggests that fear can develop in both conditions, not just simply from personal history.
Fear is affected by cultural and historical context. For example, in the early 20th century, many Americans feared polio, a disease that can lead to paralysis.[13] There are consistent cross-cultural differences in how people respond to fear.[14] Display rules affect how likely people are to express the facial expression of fear and other emotions.
Fear of victimization is a function of perceived risk and seriousness.[15]
## Common triggers[edit]
### Phobias[edit]
See also: Phobia
According to surveys, some of the most common fears are of demons and ghosts, the existence of evil powers, cockroaches, spiders, snakes, heights, Trypophobia, water, enclosed spaces, tunnels, bridges, needles, social rejection, failure, examinations, and public speaking.[16][17][18]
### Fear of the unknown[edit]
See also: Xenophobia and Neophobia
Fear of the unknown or irrational fear is caused by negative thinking (worry) which arises from anxiety accompanied by a subjective sense of apprehension or dread.[19] Irrational fear shares a common neural pathway with other fears, a pathway that engages the nervous system to mobilize bodily resources in the face of danger or threat. Many people are scared of the "unknown". The irrational fear can branch out to many areas such as the hereafter, the next ten years or even tomorrow. Chronic irrational fear has deleterious effects since the elicitor stimulus is commonly absent or perceived from delusions. Such fear can create comorbidity with the anxiety disorder umbrella.[20] Being scared may cause people to experience anticipatory fear of what may lie ahead rather than planning and evaluating for the same. For example, "continuation of scholarly education" is perceived by many educators as a risk that may cause them fear and stress,[21] and they would rather teach things they've been taught than go and do research. That can lead to habits such as laziness and procrastination.[citation needed]
The ambiguity of situations that tend to be uncertain and unpredictable can cause anxiety in addition to other psychological and physical problems in some populations; especially those who engage it constantly, for example, in war-ridden places or in places of conflict, terrorism, abuse, etc. Poor parenting that instills fear can also debilitate a child's psyche development or personality. For example, parents tell their children not to talk to strangers in order to protect them. In school, they would be motivated to not show fear in talking with strangers, but to be assertive and also aware of the risks and the environment in which it takes place. Ambiguous and mixed messages like this can affect their self-esteem and self-confidence. Researchers say talking to strangers isn't something to be thwarted but allowed in a parent's presence if required.[22] Developing a sense of equanimity to handle various situations is often advocated as an antidote to irrational fear and as an essential skill by a number of ancient philosophies.
Fear of the unknown (FOTU) "may be a, or possibly the, fundamental fear".[23]
### In U.S.[edit]
In a 2005 Gallup Poll (U.S.), a national sample of about 1000 adolescents (aged 13 to 17) were asked what they feared the most as an open-ended question. The American adolescents reported perceiving their top 10 fears as follows: terrorist attacks, spiders, death, failure, war, criminal or gang violence, being alone, the future, and nuclear war.[24]
In an estimate of what Americans fear the most, book author Bill Tancer analyzed the most frequent online queries that involved the phrase, "fear of..." following the assumption that people tend to seek information on the issues that concern them the most. His top ten list of fears published 2008 consisted of flying, heights, clowns, intimacy, death, rejection, people, snakes, failure, and driving.[25]
## Fear behavior[edit]
Although fear behavior varies from species to species, it is often divided into two main categories; namely, avoidance/flight and immobility.[7] To these, different researchers have added different categories, such as threat display and attack,[26] protective responses (including startle and looming responses),[27] defensive burying,[28] and social responses (including alarm vocalizations and submission).[26][29] Finally, immobility is often divided into freezing and tonic immobility.[26][29]
The decision as to which particular fear behavior to perform is determined by the level of fear as well as the specific context, such as environmental characteristics (escape route present, distance to refuge), the presence of a discrete and localized threat, the distance between threat and subject, threat characteristics (speed, size, directness of approach), the characteristics of the subject under threat (size, physical condition, speed, degree of crypsis, protective morphological structures), social conditions (group size), and the amount of experience with the type of the threat.[6][7][29][30][31]
## Mechanism[edit]
Often laboratory studies with rats are conducted to examine the acquisition and extinction of conditioned fear responses.[32] In 2004, researchers conditioned rats (Rattus norvegicus) to fear a certain stimulus, through electric shock.[33] The researchers were able to then cause an extinction of this conditioned fear, to a point that no medications or drugs were able to further aid in the extinction process. However, the rats did show signs of avoidance learning, not fear, but simply avoiding the area that brought pain to the test rats. The avoidance learning of rats is seen as a conditioned response, and therefore the behavior can be unconditioned, as supported by the earlier research.
Species-specific defense reactions (SSDRs) or avoidance learning in nature is the specific tendency to avoid certain threats or stimuli, it is how animals survive in the wild. Humans and animals both share these species-specific defense reactions, such as the flight-or-fight, which also include pseudo-aggression, fake or intimidating aggression and freeze response to threats, which is controlled by the sympathetic nervous system. These SSDRs are learned very quickly through social interactions between others of the same species, other species, and interaction with the environment.[34] These acquired sets of reactions or responses are not easily forgotten. The animal that survives is the animal that already knows what to fear and how to avoid this threat. An example in humans is the reaction to the sight of a snake, many jump backwards before cognitively realizing what they are jumping away from, and in some cases, it is a stick rather than a snake.
As with many functions of the brain, there are various regions of the brain involved in deciphering fear in humans and other nonhuman species.[35] The amygdala communicates both directions between the prefrontal cortex, hypothalamus, the sensory cortex, the hippocampus, thalamus, septum, and the brainstem. The amygdala plays an important role in SSDR, such as the ventral amygdalofugal, which is essential for associative learning, and SSDRs are learned through interaction with the environment and others of the same species. An emotional response is created only after the signals have been relayed between the different regions of the brain, and activating the sympathetic nervous systems; which controls the flight, fight, freeze, fright, and faint response.[36][37] Often a damaged amygdala can cause impairment in the recognition of fear (like the human case of patient S.M.).[38] This impairment can cause different species to lack the sensation of fear, and often can become overly confident, confronting larger peers, or walking up to predatory creatures.
Robert C. Bolles (1970), a researcher at University of Washington, wanted to understand species-specific defense reactions and avoidance learning among animals, but found that the theories of avoidance learning and the tools that were used to measure this tendency were out of touch with the natural world.[39] He theorized the species-specific defense reaction (SSDR).[40] There are three forms of SSDRs: flight, fight (pseudo-aggression), or freeze. Even domesticated animals have SSDRs, and in those moments it is seen that animals revert to atavistic standards and become "wild" again. Dr. Bolles states that responses are often dependent on the reinforcement of a safety signal, and not the aversive conditioned stimuli. This safety signal can be a source of feedback or even stimulus change. Intrinsic feedback or information coming from within, muscle twitches, increased heart rate, are seen to be more important in SSDRs than extrinsic feedback, stimuli that comes from the external environment. Dr. Bolles found that most creatures have some intrinsic set of fears, to help assure survival of the species. Rats will run away from any shocking event, and pigeons will flap their wings harder when threatened. The wing flapping in pigeons and the scattered running of rats are considered species-specific defense reactions or behaviors. Bolles believed that SSDRs are conditioned through Pavlovian conditioning, and not operant conditioning; SSDRs arise from the association between the environmental stimuli and adverse events.[41] Michael S. Fanselow conducted an experiment, to test some specific defense reactions, he observed that rats in two different shock situations responded differently, based on instinct or defensive topography, rather than contextual information.[42]
Species-specific defense responses are created out of fear, and are essential for survival.[43] Rats that lack the gene stathmin show no avoidance learning, or a lack of fear, and will often walk directly up to cats and be eaten.[44] Animals use these SSDRs to continue living, to help increase their chance of fitness, by surviving long enough to procreate. Humans and animals alike have created fear to know what should be avoided, and this fear can be learned through association with others in the community, or learned through personal experience with a creature, species, or situations that should be avoided. SSDRs are an evolutionary adaptation that has been seen in many species throughout the world including rats, chimpanzees, prairie dogs, and even humans, an adaptation created to help individual creatures survive in a hostile world.
Fear learning changes across the lifetime due to natural developmental changes in the brain.[45][46] This includes changes in the prefrontal cortex and the amygdala.[47]
### Neurocircuit in mammals[edit]
See also: Fear processing in the brain
* The thalamus collects sensory data from the senses
* Sensory cortex receives data from the thalamus and interprets it
* Sensory cortex organizes information for dissemination to the hypothalamus (fight or flight), amygdalae (fear), hippocampus (memory)
The brain structures that are the center of most neurobiological events associated with fear are the two amygdalae, located behind the pituitary gland. Each amygdala is part of a circuitry of fear learning.[2] They are essential for proper adaptation to stress and specific modulation of emotional learning memory. In the presence of a threatening stimulus, the amygdalae generate the secretion of hormones that influence fear and aggression.[48] Once a response to the stimulus in the form of fear or aggression commences, the amygdalae may elicit the release of hormones into the body to put the person into a state of alertness, in which they are ready to move, run, fight, etc. This defensive response is generally referred to in physiology as the fight-or-flight response regulated by the hypothalamus, part of the limbic system.[49] Once the person is in safe mode, meaning that there are no longer any potential threats surrounding them, the amygdalae will send this information to the medial prefrontal cortex (mPFC) where it is stored for similar future situations, which is known as memory consolidation.[50]
Some of the hormones involved during the state of fight-or-flight include epinephrine, which regulates heart rate and metabolism as well as dilating blood vessels and air passages, norepinephrine increasing heart rate, blood flow to skeletal muscles and the release of glucose from energy stores,[51] and cortisol which increases blood sugar, increases circulating neutrophilic leukocytes, calcium amongst other things.[52]
After a situation which incites fear occurs, the amygdalae and hippocampus record the event through synaptic plasticity.[53] The stimulation to the hippocampus will cause the individual to remember many details surrounding the situation.[54] Plasticity and memory formation in the amygdala are generated by activation of the neurons in the region. Experimental data supports the notion that synaptic plasticity of the neurons leading to the lateral amygdalae occurs with fear conditioning.[55] In some cases, this forms permanent fear responses such as posttraumatic stress disorder (PTSD) or a phobia.[56] MRI and fMRI scans have shown that the amygdalae in individuals diagnosed with such disorders including bipolar or panic disorder are larger and wired for a higher level of fear.[57]
Pathogens can suppress amygdala activity. Rats infected with the toxoplasmosis parasite become less fearful of cats, sometimes even seeking out their urine-marked areas. This behavior often leads to them being eaten by cats. The parasite then reproduces within the body of the cat. There is evidence that the parasite concentrates itself in the amygdala of infected rats.[58] In a separate experiment, rats with lesions in the amygdala did not express fear or anxiety towards unwanted stimuli. These rats pulled on levers supplying food that sometimes sent out electrical shocks. While they learned to avoid pressing on them, they did not distance themselves from these shock-inducing levers.[59]
Several brain structures other than the amygdalae have also been observed to be activated when individuals are presented with fearful vs. neutral faces, namely the occipitocerebellar regions including the fusiform gyrus and the inferior parietal / superior temporal gyri.[60] Fearful eyes, brows and mouth seem to separately reproduce these brain responses.[60] Scientists from Zurich studies show that the hormone oxytocin related to stress and sex reduces activity in your brain fear center.[61]
#### Pheromones and why fear can be contagious[edit]
In threatening situations, insects, aquatic organisms, birds, reptiles, and mammals emit odorant substances, initially called alarm substances, which are chemical signals now called alarm pheromones. This is to defend themselves and at the same time to inform members of the same species of danger and leads to observable behavior change like freezing, defensive behavior, or dispersion depending on circumstances and species. For example, stressed rats release odorant cues that cause other rats to move away from the source of the signal.
After the discovery of pheromones in 1959, alarm pheromones were first described in 1968 in ants[62] and earthworms,[63] and four years later also found in mammals, both mice and rats.[64] Over the next two decades, identification and characterization of these pheromones proceeded in all manner of insects and sea animals, including fish, but it was not until 1990 that more insight into mammalian alarm pheromones was gleaned.
Earlier, in 1985, a link between odors released by stressed rats and pain perception was discovered: unstressed rats exposed to these odors developed opioid-mediated analgesia.[65] In 1997, researchers found that bees became less responsive to pain after they had been stimulated with isoamyl acetate, a chemical smelling of banana, and a component of bee alarm pheromone.[66] The experiment also showed that the bees' fear-induced pain tolerance was mediated by an endorphine.
By using the forced swimming test in rats as a model of fear-induction, the first mammalian "alarm substance" was found.[67] In 1991, this "alarm substance" was shown to fulfill criteria for pheromones: well-defined behavioral effect, species specificity, minimal influence of experience and control for nonspecific arousal. Rat activity testing with the alarm pheromone, and their preference/avoidance for odors from cylinders containing the pheromone, showed that the pheromone had very low volatility.[68]
In 1993 a connection between alarm chemosignals in mice and their immune response was found.[69] Pheromone production in mice was found to be associated with or mediated by the pituitary gland in 1994.[70]
In 2004, it was demonstrated that rats' alarm pheromones had different effects on the "recipient" rat (the rat perceiving the pheromone) depending which body region they were released from: Pheromone production from the face modified behavior in the recipient rat, e.g. caused sniffing or movement, whereas pheromone secreted from the rat's anal area induced autonomic nervous system stress responses, like an increase in core body temperature.[71] Further experiments showed that when a rat perceived alarm pheromones, it increased its defensive and risk assessment behavior,[72] and its acoustic startle reflex was enhanced.
It was not until 2011 that a link between severe pain, neuroinflammation and alarm pheromones release in rats was found: real time RT-PCR analysis of rat brain tissues indicated that shocking the footpad of a rat increased its production of proinflammatory cytokines in deep brain structures, namely of IL-1β, heteronuclear Corticotropin-releasing hormone and c-fos mRNA expressions in both the paraventricular nucleus and the bed nucleus of the stria terminalis, and it increased stress hormone levels in plasma (corticosterone).[73]
The neurocircuit for how rats perceive alarm pheromones was shown to be related to the hypothalamus, brainstem, and amygdalae, all of which are evolutionary ancient structures deep inside or in the case of the brainstem underneath the brain away from the cortex, and involved in the fight-or-flight response, as is the case in humans.[74]
Alarm pheromone-induced anxiety in rats has been used to evaluate the degree to which anxiolytics can alleviate anxiety in humans. For this, the change in the acoustic startle reflex of rats with alarm pheromone-induced anxiety (i.e. reduction of defensiveness) has been measured. Pretreatment of rats with one of five anxiolytics used in clinical medicine was able to reduce their anxiety: namely midazolam, phenelzine (a nonselective monoamine oxidase (MAO) inhibitor), propranolol, a nonselective beta blocker, clonidine, an alpha 2 adrenergic agonist or CP-154,526, a corticotropin-releasing hormone antagonist.[75]
Faulty development of odor discrimination impairs the perception of pheromones and pheromone-related behavior, like aggressive behavior and mating in male rats: The enzyme Mitogen-activated protein kinase 7 (MAPK7) has been implicated in regulating the development of the olfactory bulb and odor discrimination and it is highly expressed in developing rat brains, but absent in most regions of adult rat brains. Conditional deletion of the MAPK7gene in mouse neural stem cells impairs several pheromone-mediated behaviors, including aggression and mating in male mice. These behavior impairments were not caused by a reduction in the level of testosterone, by physical immobility, by heightened fear or anxiety or by depression. Using mouse urine as a natural pheromone-containing solution, it has been shown that the impairment was associated with defective detection of related pheromones, and with changes in their inborn preference for pheromones related to sexual and reproductive activities.[76]
Lastly, alleviation of an acute fear response because a friendly peer (or in biological language: an affiliative conspecific) tends and befriends is called "social buffering". The term is in analogy to the 1985 "buffering" hypothesis in psychology, where social support has been proven to mitigate the negative health effects of alarm pheromone mediated distress.[77] The role of a "social pheromone" is suggested by the recent discovery that olfactory signals are responsible in mediating the "social buffering" in male rats.[78] "Social buffering" was also observed to mitigate the conditioned fear responses of honeybees. A bee colony exposed to an environment of high threat of predation did not show increased aggression and aggressive-like gene expression patterns in individual bees, but decreased aggression. That the bees did not simply habituate to threats is suggested by the fact that the disturbed colonies also decreased their foraging.[79]
Biologists have proposed in 2012 that fear pheromones evolved as molecules of "keystone significance", a term coined in analogy to keystone species. Pheromones may determine species compositions and affect rates of energy and material exchange in an ecological community. Thus pheromones generate structure in a food web and play critical roles in maintaining natural systems.[80]
#### Fear pheromones in humans[edit]
Evidence of chemosensory alarm signals in humans has emerged slowly: Although alarm pheromones have not been physically isolated and their chemical structures have not been identified in humans so far, there is evidence for their presence. Androstadienone, for example, a steroidal, endogenous odorant, is a pheromone candidate found in human sweat, axillary hair and plasma. The closely related compound androstenone is involved in communicating dominance, aggression or competition; sex hormone influences on androstenone perception in humans showed a high testosterone level related to heightened androstenone sensitivity in men, a high testosterone level related to unhappiness in response to androstenone in men, and a high estradiol level related to disliking of androstenone in women.[81]
A German study from 2006 showed when anxiety-induced versus exercise-induced human sweat from a dozen people was pooled and offered to seven study participants, of five able to olfactorily distinguish exercise-induced sweat from room air, three could also distinguish exercise-induced sweat from anxiety induced sweat. The acoustic startle reflex response to a sound when sensing anxiety sweat was larger than when sensing exercise-induced sweat, as measured by electromyography analysis of the orbital muscle, which is responsible for the eyeblink component. This showed for the first time that fear chemosignals can modulate the startle reflex in humans without emotional mediation; fear chemosignals primed the recipient's "defensive behavior" prior to the subjects' conscious attention on the acoustic startle reflex level.[82]
In analogy to the social buffering of rats and honeybees in response to chemosignals, induction of empathy by "smelling anxiety" of another person has been found in humans.[83]
A study from 2013 provided brain imaging evidence that human responses to fear chemosignals may be gender-specific. Researchers collected alarm-induced sweat and exercise-induced sweat from donors extracted it, pooled it and presented it to 16 unrelated people undergoing functional brain MRI. While stress-induced sweat from males produced a comparably strong emotional response in both females and males, stress-induced sweat from females produced markedly stronger arousal in women than in men. Statistical tests pinpointed this gender-specificity to the right amygdala and strongest in the superficial nuclei. Since no significant differences were found in the olfactory bulb, the response to female fear-induced signals is likely based on processing the meaning, i.e. on the emotional level, rather than the strength of chemosensory cues from each gender, i.e. the perceptual level.[84]
An approach-avoidance task was set up where volunteers seeing either an angry or a happy cartoon face on a computer screen pushed away or pulled toward them a joystick as fast as possible. Volunteers smelling androstadienone, masked with clove oil scent responded faster, especially to angry faces than those smelling clove oil only, which was interpreted as androstadienone-related activation of the fear system.[85] A potential mechanism of action is, that androstadienone alters the "emotional face processing". Androstadienone is known to influence the activity of the fusiform gyrus which is relevant for face recognition.
### Cognitive-consistency theory[edit]
Cognitive-consistency theories assume that "when two or more simultaneously active cognitive structures are logically inconsistent, arousal is increased, which activates processes with the expected consequence of increasing consistency and decreasing arousal."[86] In this context, it has been proposed that fear behavior is caused by an inconsistency between a preferred, or expected, situation and the actually perceived situation, and functions to remove the inconsistent stimulus from the perceptual field, for instance by fleeing or hiding, thereby resolving the inconsistency.[86][87][7] This approach puts fear in a broader perspective, also involving aggression and curiosity. When the inconsistency between perception and expectancy is small, learning as a result of curiosity reduces inconsistency by updating expectancy to match perception. If the inconsistency is larger, fear or aggressive behavior may be employed to alter the perception in order to make it match expectancy, depending on the size of the inconsistency as well as the specific context. Aggressive behavior is assumed to alter perception by forcefully manipulating it into matching the expected situation, while in some cases thwarted escape may also trigger aggressive behavior in an attempt to remove the thwarting stimulus.[86]
## Management[edit]
### Pharmaceutical[edit]
A drug treatment for fear conditioning and phobias via the amygdalae is the use of glucocorticoids.[88] In one study, glucocorticoid receptors in the central nuclei of the amygdalae were disrupted in order to better understand the mechanisms of fear and fear conditioning. The glucocorticoid receptors were inhibited using lentiviral vectors containing Cre-recombinase injected into mice. Results showed that disruption of the glucocorticoid receptors prevented conditioned fear behavior. The mice were subjected to auditory cues which caused them to freeze normally. However, a reduction of freezing was observed in the mice that had inhibited glucocorticoid receptors.[89]
### Psychology[edit]
Cognitive behavioral therapy has been successful in helping people overcome their fear. Because fear is more complex than just forgetting or deleting memories, an active and successful approach involves people repeatedly confronting their fears. By confronting their fears in a safe manner a person can suppress the "fear-triggering memories" or stimuli.[90]
Exposure therapy has known to have helped up to 90% of people with specific phobias to significantly decrease their fear over time.[50][90]
Another psychological treatment is systematic desensitization, which is a type of behavior therapy used to completely remove the fear or produce a disgusted response to this fear and replace it. The replacement that occurs will be relaxation and will occur through conditioning. Through conditioning treatments, muscle tensioning will lessen and deep breathing techniques will aid in de-tensioning.
### Other treatments[edit]
There are other methods for treating or coping with one's fear, such as writing down rational thoughts regarding fears. Journal entries are a healthy method of expressing one's fears without compromising safety or causing uncertainty. Another suggestion is a fear ladder. To create a fear ladder, one must write down all of their fears and score them on a scale of one to ten. Next, the person addresses their phobia, starting with the lowest number.
Finding solace in religion is another method to cope with one's fear. Having something to answer your questions regarding your fears, such as, what happens after death or if there is an afterlife, can help mitigate one's fear of death because there is no room for uncertainty as their questions are answered. Religion offers a method of being able to understand and make sense of one's fears rather than ignore them.[91]
## Inability to experience fear[edit]
People who have damage to their amygdalae, which can be caused by a rare genetic disease known as Urbach–Wiethe disease, are unable to experience fear. The disease destroys both amygdalae in late childhood. Since the discovery of the disease, there have only been 400 recorded cases. This is not debilitating; however, a lack of fear can allow someone to get into a dangerous situation they otherwise would have avoided. For example, those without fear would approach a known venomous snake while those with fear intact, would typically try to avoid it.[92]
## Society and culture[edit]
Painting by Guido Reni c. 1611
### Death[edit]
The fear of the end of life and its existence is, in other words, the fear of death. The fear of death ritualized the lives of our ancestors. These rituals were designed to reduce that fear; they helped collect the cultural ideas that we now have in the present.[citation needed] These rituals also helped preserve the cultural ideas. The results and methods of human existence had been changing at the same time that social formation was changing.
When people are faced with their own thoughts of death, they either accept that they are dying or will die because they have lived a full life or they will experience fear. A theory was developed in response to this, which is called the Terror Management Theory. The theory states that a person's cultural worldviews (religion, values, etc.) will mitigate the terror associated with the fear of death through avoidance. To help manage their terror, they find solace in their death-denying beliefs, such as their religion. Another way people cope with their death related fears is pushing any thoughts of death into the future or by avoiding these thoughts all together through distractions.[93] Although there are methods for one coping with the terror associated with their fear of death, not everyone suffers from these same uncertainties. People who have lived a full life, typically do not fear death because they believe that they have lived their life to the fullest.
#### Fear of death[edit]
Main article: Fear of death
Death anxiety is multidimensional; it covers "fears related to one's own death, the death of others, fear of the unknown after death, fear of obliteration, and fear of the dying process, which includes fear of a slow death and a painful death".[94] Death anxiety is one's uncertainty to dying. However, there is a more severe form of having a fear of death, which is known as Thanatophobia, which is anxiety over death that becomes debilitating or keeps a person from living their life.[medical citation needed]
The Yale philosopher Shelly Kagan examined fear of death in a 2007 Yale open course[95] by examining the following questions: Is fear of death a reasonable appropriate response? What conditions are required and what are appropriate conditions for feeling fear of death? What is meant by fear, and how much fear is appropriate? According to Kagan for fear in general to make sense, three conditions should be met:
1. the object of fear needs to be "something bad"
2. there needs to be a non-negligible chance that the bad state of affairs will happen
3. there needs to be some uncertainty about the bad state of affairs
The amount of fear should be appropriate to the size of "the bad". If the three conditions are not met, fear is an inappropriate emotion. He argues, that death does not meet the first two criteria, even if death is a "deprivation of good things" and even if one believes in a painful afterlife. Because death is certain, it also does not meet the third criterion, but he grants that the unpredictability of when one dies may be cause to a sense of fear.[95]
In a 2003 study of 167 women and 121 men, aged 65–87, low self-efficacy predicted fear of the unknown after death and fear of dying for women and men better than demographics, social support, and physical health. Fear of death was measured by a "Multidimensional Fear of Death Scale" which included the 8 subscales Fear of Dying, Fear of the Dead, Fear of Being Destroyed, Fear for Significant Others, Fear of the Unknown, Fear of Conscious Death, Fear for the Body After Death, and Fear of Premature Death. In hierarchical multiple regression analysis, the most potent predictors of death fears were low "spiritual health efficacy", defined as beliefs relating to one's perceived ability to generate spiritually based faith and inner strength, and low "instrumental efficacy", defined as beliefs relating to one's perceived ability to manage activities of daily living.[94]
Psychologists have tested the hypotheses that fear of death motivates religious commitment, and that assurances about an afterlife alleviate the fear; however, empirical research on this topic has been equivocal.[96] Religiosity can be related to fear of death when the afterlife is portrayed as time of punishment. "Intrinsic religiosity", as opposed to mere "formal religious involvement", has been found to be negatively correlated with death anxiety.[94] In a 1976 study of people of various Christian denominations, those who were most firm in their faith, who attended religious services weekly, were the least afraid of dying. The survey found a negative correlation between fear of death and "religious concern".[97][better source needed]
In a 2006 study of white, Christian men and women the hypothesis was tested that traditional, church-centered religiousness and de-institutionalized spiritual seeking are ways of approaching fear of death in old age. Both religiousness and spirituality were related to positive psychosocial functioning, but only church-centered religiousness protected subjects against the fear of death.[98][99][better source needed]
### Religion[edit]
See also: Fear of God and Category:Religion and death
From a theological perspective, the word "fear" encompasses more than simple fear. Robert B. Strimple says that fear includes the "... convergence of awe, reverence, adoration...".[100] Some translations of the Bible, such as the New International Version, sometimes replace the word "fear" with "reverence".
Fear in religion can be seen throughout the years, however, the most prominent example would be The Crusades. Pope Urban II allowed for Christian mercenary troops to be sent on a mission in order to recover the Holy Lands from the Muslims. However, the message was misinterpreted and as a result, innocent people were slaughtered. Although the Crusades were meant to stay between the Muslims and the Christians, the hate spread onto the Jewish culture. Jewish people who feared for their lives, gave into the forced conversion of Christianity because they believed this would secure their safety. Other Jewish people feared betraying their God by conceding to a conversion, and instead, secured their own fate, which was death.[101]
### Manipulation[edit]
Further information: Culture of fear, Fear mongering, Fear appeal, Psychological warfare, Tactics of terrorism § Fear, and List of causes of death by rate
Fear may be politically and culturally manipulated to persuade citizenry of ideas which would otherwise be widely rejected or dissuade citizenry from ideas which would otherwise be widely supported. In contexts of disasters, nation-states manage the fear not only to provide their citizens with an explanation about the event or blaming some minorities, but also to adjust their previous beliefs.
Fear can alter how a person thinks or reacts to situations because fear has the power to inhibit one's rational way of thinking. As a result, people who do not experience fear, are able to use fear as a tool to manipulate others. People who are experiencing fear, seek preservation through safety and can be manipulated by a person who is there to provide that safety that is being sought after. "When we're afraid, a manipulator can talk us out of the truth we see right in front of us. Words become more real than reality"[102] By this, a manipulator is able to use our fear to manipulate us out the truth and instead make us believe and trust in their truth. Politicians are notorious for using fear to manipulate the people into supporting their will through keywords and key phrases such as "it is for your safety," or "it is for the safety of this country."[citation needed]
### Fiction and mythology[edit]
See also: Dystopia § In society, and Apocalyptic and post-apocalyptic fiction § In society
A still from the film Carnival of Souls.
Fear is found and reflected in mythology and folklore as well as in works of fiction such as novels and films.
Works of dystopian and (post)apocalyptic fiction convey the fears and anxieties of societies.[103][104]
The fear of the world's end is about as old as civilization itself.[105] In a 1967 study, Frank Kermode suggests that the failure of religious prophecies led to a shift in how society apprehends this ancient mode.[106] Scientific and critical thought supplanting religious and mythical thought as well as a public emancipation may be the cause of eschatology becoming replaced by more realistic scenarios. Such might constructively provoke discussion and steps to be taken to prevent depicted catastrophes.
The Story of the Youth Who Went Forth to Learn What Fear Was is a German fairy tale dealing with the topic of not knowing fear. Many stories also include characters who fear the antagonist of the plot. One important characteristic of historical and mythical heroes across cultures is to be fearless in the face of big and often lethal enemies.[citation needed]
### Athletics[edit]
In the world of athletics, fear is often used as a means of motivation to not fail.[107] This situation involves using fear in a way that increases the chances of a positive outcome. In this case, the fear that is being created is initially a cognitive state to the receiver.[108] This initial state is what generates the first response of the athlete, this response generates a possibility of fight or flight reaction by the athlete (receiver), which in turn will increase or decrease the possibility of success or failure in the certain situation for the athlete.[109] The amount of time that the athlete has to determine this decision is small but it is still enough time for the receiver to make a determination through cognition.[110] Even though the decision is made quickly, the decision is determined through past events that have been experienced by the athlete.[111] The results of these past events will determine how the athlete will make his cognitive decision in the split second that he or she has.[107]
Fear of failure as described above has been studied frequently in the field of sport psychology. Many scholars have tried to determine how often fear of failure is triggered within athletes, as well as what personalities of athletes most often choose to use this type of motivation. Studies have also been conducted to determine the success rate of this method of motivation.
Murray's Exploration in Personal (1938) was one of the first studies that actually identified fear of failure as an actual motive to avoid failure or to achieve success. His studies suggested that inavoidance, the need to avoid failure, was found in many college-aged men during the time of his research in 1938.[112] This was a monumental finding in the field of psychology because it allowed other researchers to better clarify how fear of failure can actually be a determinant of creating achievement goals as well as how it could be used in the actual act of achievement.[113]
In the context of sport, a model was created by R.S. Lazarus in 1991 that uses the cognitive-motivational-relational theory of emotion.[114]
> It holds that Fear of Failure results when beliefs or cognitive schemas about aversive consequences of failing are activated by situations in which failure is possible. These belief systems predispose the individual to make appraisals of threat and experience the state anxiety that is associated with Fear of Failure in evaluative situations.[113][108]
Another study was done in 2001 by Conroy, Poczwardowski, and Henschen that created five aversive consequences of failing that have been repeated over time. The five categories include (a) experiencing shame and embarrassment, (b) devaluing one's self-estimate, (c) having an uncertain future, (d) important others losing interest, (e) upsetting important others.[107] These five categories can help one infer the possibility of an individual to associate failure with one of these threat categories, which will lead them to experiencing fear of failure.
In summary, the two studies that were done above created a more precise definition of fear of failure, which is "a dispositional tendency to experience apprehension and anxiety in evaluative situations because individuals have learned that failure is associated with aversive consequences".[113]
## See also[edit]
* Anxiety disorder
* Appeal to fear
* Culture of fear
* Ecology of fear
* Horror and terror
* Hysteria
* Nightmare
* Night terror
* Ontogenetic parade
* Panic attack
* Paranoia
* Phobophobia
* Psychological trauma
* Shock
* Social anxiety disorder
* Social anxiety
* Terror management theory
* Voodoo death
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108. ^ a b Lazarus, R.S. (1991). Emotion and Adaptation. Oxford University Press, New York.
109. ^ Birney, R.C., Burdick, H., & Teevan, R.C. (1969). Fear of failure. Van Nostrand-Reinhold Company.
110. ^ Lazarus, R.S. (1991). Emotion and adaptation. New York: Oxford University Press.
111. ^ Duda, J.L. (1993). Goals: A social-cognitive approach to the study of achievement motivation in sport. In R.N. Singer, M. Murphey, & L.K. Tennant (Eds.), Handbook of research on sport psychology (pp. 421–36). New York: Macmillan.
112. ^ Murray, H. (1938). Explorations in Personal. Oxford University Press, New York
113. ^ a b c Conroy, D.E.; Elliot, A.J. (2004). "Fear of failure and achievement goals in sport: Addressing the issue of the chicken and the egg". Anxiety, Stress & Coping. 17 (3): 271–85. CiteSeerX 10.1.1.643.3752. doi:10.1080/1061580042000191642. S2CID 15144896.
114. ^ Lazarus, R.S. (1991). Emotion and Adaptation. Oxford University Press, New York:
## Further reading[edit]
* Bourke, Joanna (2005). Fear: a cultural history. Virago. ISBN 978-1-59376-113-4.
* Peale, Dr. Norman Vincent (2003). The power of positive thinking. Touchstone. ISBN 978-0-7432-3480-1.
* Robin, Corey (2004). Fear: the history of a political idea. Oxford University Press. ISBN 978-0-19-515702-4.
* Duenwald, Mary (January 2005). "The Physiology of ... Facial Expressions". Discover. 26 (1).
* Gardner, Dan (2008). Risk: The Science and Politics of Fear. Random House, Inc. ISBN 978-0-7710-3299-8.
* Jiddu, Krishnamurti (1995). On Fear. Harper Collins. ISBN 978-0-06-251014-3.
* Plamper, Jan (2012). Fear: Across the Disciplines. University of Pittsburgh Press. ISBN 978-0-8229-6220-5.
* Dixon, Rasheeal (2012). How to overcome fear, and start living fearless. CreateSpace. ISBN 978-1-4751-2204-6.
* Wedgwood, Hensleigh (1855). "English Etymologies (Affraid, Affray, Fray)". Transactions of the Philological Society (8).
## External links[edit]
Wikiquote has quotations related to: Fear
Wikimedia Commons has media related to Fear.
Look up fear in Wiktionary, the free dictionary.
* The Scent of Fear, a Research Study
* Adjustment to Threatening Events – A Theory of Cognitive Adaptation
* Catholic Encyclopedia "Fear (from a Moral Standpoint)"
* Scary Stories to read
* v
* t
* e
Emotions (list)
Emotions
* Acceptance
* Adoration
* Aesthetic emotions
* Affection
* Agitation
* Agony
* Amusement
* Anger
* Angst
* Anguish
* Annoyance
* Anticipation
* Anxiety
* Apathy
* Arousal
* Attraction
* Awe
* Boredom
* Calmness
* Compassion
* Confidence
* Contempt
* Contentment
* Courage
* Cruelty
* Curiosity
* Defeat
* Depression
* Desire
* Despair
* Disappointment
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* Distrust
* Ecstasy
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* Vicarious
* Empathy
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* Enthusiasm
* Envy
* Euphoria
* Excitement
* Fear
* Flow (psychology)
* Frustration
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* Greed
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* Hiraeth
* Homesickness
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* Jealousy
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* Mono no aware
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* Self-pity
* Pleasure
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* Grandiosity
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* Insult
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* Rage
* Regret
* Social connection
* Rejection
* Remorse
* Resentment
* Sadness
* Melancholy
* Saudade
* Schadenfreude
* Sehnsucht
* Self-confidence
* Sentimentality
* Shame
* Shock
* Shyness
* Sorrow
* Spite
* Stress
* Suffering
* Surprise
* Sympathy
* Tenseness
* Trust
* Wonder
* Worry
World views
* Cynicism
* Defeatism
* Nihilism
* Optimism
* Pessimism
* Reclusion
* Weltschmerz
Related
* Affect
* consciousness
* in education
* measures
* in psychology
* Affective
* computing
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* science
* spectrum
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* positive
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* Appeal to emotion
* Emotion
* and art
* and memory
* and music
* and sex
* classification
* evolution
* expressed
* functional accounts
* group
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* perception
* recognition
* in conversation
* in animals
* regulation
* interpersonal
* work
* Emotional
* aperture
* bias
* blackmail
* competence
* conflict
* contagion
* detachment
* dysregulation
* eating
* exhaustion
* expression
* intelligence
* and bullying
* intimacy
* isolation
* lability
* labor
* lateralization
* literacy
* prosody
* reasoning
* responsivity
* security
* selection
* symbiosis
* well-being
* Emotionality
* bounded
* Emotions
* and culture
* in decision-making
* in the workplace
* in virtual communication
* history
* moral
* self-conscious
* social
* social sharing
* sociology
* Feeling
* Gender and emotional expression
* Group affective tone
* Interactions between the emotional and executive brain systems
* Meta-emotion
* Pathognomy
* Pathos
* Social emotional development
* Stoic passions
* Theory
* affect
* appraisal
* discrete emotion
* somatic marker
* constructed emotion
Authority control
* GND: 4018944-2
* LCCN: sh85047514
* NDL: 00568957
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Fear
|
None
| 26,379 |
wikipedia
|
https://en.wikipedia.org/wiki/Fear
| 2021-01-18T18:58:36 |
{"mesh": ["D005239"], "wikidata": ["Q44619"]}
|
Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Hemolytic anemia due to adenylate kinase deficiency
|
c2675459
| 26,380 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86817
| 2021-01-23T18:14:42 |
{"mesh": ["C567228"], "omim": ["612631"], "umls": ["C2675459"], "icd-10": ["D55.3"]}
|
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia disorder characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
|
c3151466
| 26,381 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140905
| 2021-01-23T17:19:00 |
{"gard": ["12864"], "omim": ["614025"], "icd-10": ["E78.4"], "synonyms": ["Hyperlipidemia due to HL deficiency", "Hyperlipidemia due to HTGL deficiency", "Hyperlipidemia due to hepatic lipase deficiency", "Hyperlipidemia due to hepatic triglyceride lipase deficiency"]}
|
This article does not cite any sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Disseminated disease" – news · newspapers · books · scholar · JSTOR (July 2018) (Learn how and when to remove this template message)
Disseminated disease refers to a diffuse disease-process, generally either infectious or neoplastic. The term may sometimes also characterize connective tissue disease.
A disseminated infection, for example, has extended beyond its origin or nidus and involved the bloodstream to "seed" other areas of the body. Similarly, one can view metastatic cancer as a disseminated infection in that it has extended into the bloodstream or into the lymphatic system and thus "seeded" distant sites (a process known as metastasis).
Disseminated disease is often contrasted with localized disease.
## References[edit]
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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Disseminated disease
|
None
| 26,382 |
wikipedia
|
https://en.wikipedia.org/wiki/Disseminated_disease
| 2021-01-18T18:33:25 |
{"wikidata": ["Q5282748"]}
|
## Clinical Features
Ramsden et al. (2000) reported a boy with generalized folding and thickening of the skin, which had been recognized by sonogram prenatally and had been striking since birth. During the newborn period, the child displayed persistent mild tachycardia (50 to 60 breaths per minute) but no other abnormal cardiorespiratory signs. Skin biopsy showed a normal epidermis but marked thickening of the dermis, with collagen fibers appearing to be pushed apart by a basophilic granular material that showed positive staining with Alcian blue and anomalous staining with Giemsa stain; this material was confirmed to be hyaluronan. Muscle biopsy revealed no significant abnormality. Ramsden et al. (2000) found that the patient's skin contained gross accumulation of hyaluronan, and the serum concentration of hyaluronan was markedly elevated (up to 3100 mug/L) during infancy. Hyaluronan synthase activity of cultured dermal fibroblasts was increased, whereas hyaluronidase activity in plasma was normal. The patient's skin underwent marked changes after the neonatal period. The face and scalp showed the earliest and most striking changes, with a marked reduction in skin thickness, erythema, and folding. Subsequently, well-demarcated and symmetrically distributed zones of thinning developed over the thighs and back. In each area, thinning was heralded by loss of erythema. Although folding decreased over much of the patient's body, the skin of the anterior chest and abdomen, which had been thickened but flat at birth, became deeply folded in the first months of life and remained so thereafter. Those areas of skin that were normal in appearance at later stages had an unusual, velvety texture. Injury to the skin by blunt trauma, abrasion, or surgical incision was associated with local recurrence of marked thickening and erythema that persisted for several months. Folding of these new areas, however, did not occur. Application of topical corticosteroids appeared to hasten wound healing and diminish local recurrence of hyaluronan accumulation. Ramsden et al. (2000) stated that this disorder is clinically distinct from mucopolysaccharidosis type IX (601492), which also features hyaluronidase deficiency.
In a patient with hyaluronidase deficiency reported by Natowicz et al. (1996), plasma hyaluronidase was undetectable and plasma hyaluronan concentrations were markedly elevated late in childhood. Furthermore, this patient had short stature, periarticular soft tissue masses, and acetabular erosions, all features not present in the patient reported by Ramsden et al. (2000).
Animal Model
Prompted by the similarity between the clinical findings in their patient and the dermatologic findings in the Chinese shar-pei dog, Ramsden et al. (2000) demonstrated that plasma hyaluronan concentrations were higher in shar-pei dogs than in control dogs.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
HYALURONAN METABOLISM, DEFECT IN
|
c1858083
| 26,383 |
omim
|
https://www.omim.org/entry/604855
| 2019-09-22T16:11:43 |
{"mesh": ["C565742"], "omim": ["604855"]}
|
Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues.
## Epidemiology
The prevalence is unknown but around 140 cases have been reported in the literature so far. The condition affects females more often than males, but shows no predilection for ethnic origin.
## Clinical description
The teeth of individuals with ROD are usually hypoplastic, small and atypically shaped with surface pits and grooves and a yellowish or brownish discoloration. The condition usually affects the maxilla more than the mandible and is generally unilateral. Other common features include eruption failure or delay, and abscesses or fistulae in the absence of caries. Radiographic examination reveals a lack of contrast between enamel and dentin, with very thin (ghost-like) layers. The pulp looks large and pulp stones or denticles can be seen. Histological features include mixed areas of cellular, amorphous and interglobular dentin. The enamel is hypoplastic, and hypocalcified areas and invaginations from the enamel surface into the dentin layer have been observed and may result in bacterial contamination of the pulp, leading to pulpitis or necrosis. The bone itself is not affected.
## Etiology
The underlying cause of ROD is still a matter of debate but various etiological factors have been suggested such as local circulatory disorders, viral infections, local trauma, pharmacotherapy during pregnancy, facial asymmetry or a combination of these factors.
## Diagnostic methods
Diagnosis should be suspected on the basis of the clinical aspect of the teeth, or upon presentation with failure of eruption, or pulpitis or necrosis in absence of caries. The diagnosis may be confirmed by radiography revealing the typical ``ghost-like'' appearance of the teeth and the presence of enamel and dentin with similar radiodensities.
## Management and treatment
Management is mainly conservative and includes treatment of the pulpitis and necrosis when necessary, with the aim of trying to maintain the affected teeth as long as possible to permit normal jaw development. If extraction is required, the extracted teeth should be replaced with removable appliances to maintain aesthetic appearance and function, and to avoid overeruption of opposing teeth and preserve the normal vertical dimension. Some patients benefit from autotransplants. Prosthesis and implants can be considered when craniofacial development is complete.
## Prognosis
The prognosis for patients is good, especially when the condition is diagnosed and managed during the early stages.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Regional odontodysplasia
|
c0206554
| 26,384 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83450
| 2021-01-23T18:39:16 |
{"mesh": ["D018126"], "icd-10": ["K00.4"], "synonyms": ["Ghost teeth"]}
|
For a discussion of genetic heterogeneity of bone mineral density (BMD), see BMND1 (601884).
Mapping
In a search for regions of the genome that contain genes predisposing to osteopenia (osteoporosis; see 166710), Devoto et al. (1998) genotyped 149 members of 7 large pedigrees showing recurrence of low bone mineral density with 330 DNA markers spread throughout the autosomal genome. Linkage analysis for this quantitative trait was carried out using spine and hip BMD values by the classic lod score method, applying a genetic model with parameters estimated from the 7 families. In addition, nonparametric analysis was performed using the traditional Haseman-Elston approach in 74 independent sib pairs from the same pedigrees. The maximum lod score obtained by parametric analysis in all families combined was 2.08 (at theta = 0.05) for the marker CD3D (186790) on 11q23 (see BMND5; 609354). All other combined lod scores from the parametric analysis were less than 1.90, the threshold for suggestive linkage. Nonparametric analysis suggested linkage of low BMD to 1p36 and 2p24-p23. Maximum multipoint lod scores for these regions were 2.29 and 2.25, respectively. The third region with associated lod scores above the threshold of suggestive linkage in both single-point and multipoint nonparametric analysis was on 4qter. The data were interpreted as indicating the existence of multiple genes involved in controlling spine and hip BMD.
Devoto et al. (2001) confirmed the existence of a candidate region conferring susceptibility to low BMD of the femoral neck on chromosome 1p36. In 42 families, heritability of femoral neck BMD was estimated as 0.51 +/- 0.13, after accounting for the effects of age, sex, body mass index, height, and weight. Variance component linkage analysis yielded a maximum multipoint lod score of 3.53 for linkage of femoral neck BMD to a quantitative trait locus (QTL) located near marker D1S214. The associated empirical P value by simulation analysis was equal to 0.0001.
Albagha et al. (2002) studied several TNFRSF1B (191191) polymorphisms in a population-based cohort study of 1,240 perimenopausal women from the UK. The authors found no association between 676T-G (met196-to-arg) alleles and BMD at the spine or hip. However, subjects homozygous for the A593-T598-C620 haplotype in the 3-prime UTR region had femoral neck BMD values 5.7% lower than those who did not carry the haplotype (P less than 0.0001). Regression analysis showed that the ATC haplotype accounted for 1.2% of the population variance in hip BMD and was the second strongest predictor after body weight.
Xu et al. (2005) analyzed the (CA)n polymorphism in intron 4 of the TNFRSF1B gene and BMD in 1,263 Chinese individuals from 402 nuclear families composed of both parents and at least 1 daughter. Significant within-family association was detected between the CA16 allele and BMD at the lumbar spine (p = 0.005); about 3.14% of lumbar spine BMD variation could be explained by the CA16 allele.
To identify regions of the genome that contain QTLs for low bone mineral density, Wilson et al. (2003) performed independent genomewide screens, using 2 complementary study designs. They analyzed unselected nonidentical twin pairs and highly selected, extremely discordant or concordant (EDAC) sib pairs. Evidence of linkage in the twin cohort at 1p36 (lod = 2.4) supported the previous findings of suggested linkage to BMD in that region. The maximum evidence of linkage in the unselected twins (lod = 2.7) and the EDAC pedigrees was observed at chromosome 3p21.
The gene encoding brain natriuretic peptide (NPPB; 600295) maps to the region of 1p identified by Devoto et al. (2001). Furthermore, Suda et al. (1998) demonstrated skeletal overgrowth of transgenic mice that express NPPB. This prompted Kajita et al. (2003) to examine the association between nucleotide variations of the NPPB gene and bone mineral density in postmenopausal women. A dosage-related association was found between bone mineral density and a particular form of the promoter polymorphism -381T-C in the NPPB gene.
Mice with a targeted deletion of either the cannabinoid receptor type 1 (CNR1; 114610) or type 2 (CNR2; 605051) gene show an alteration of bone mass, and pharmacologic modification of both receptors can regulate osteoclast activity and BMD. Karsak et al. (2005) performed a genetic association study in 168 postmenopausal osteoporosis patients and 220 matched female controls. There was a significant association for rs2501431 in exon 2 of the CNR2 gene (p = 0.0014; corrected p = 0.0056) and a 3-SNP haplotype (p = 0.0001) encompassing exon 2 and intron 1 of the CNR2 gene on chromosome 1p36. There was no convincing association for the CNR1 gene. Karsak et al. (2005) concluded that their results demonstrate a possible role for the peripherally expressed CNR2 receptor in the etiology of osteoporosis.
Styrkarsdottir et al. (2008) performed a quantitative trait analysis of data from 5,861 Icelandic subjects, testing for an association between 301,019 single-nucleotide polymorphisms (SNPs) and bone mineral density of the hip or lumbar spine. The authors then tested for an association between 74 SNPs (most of which were implicated in the discovery set) at 32 loci in replication sets of Icelandic, Danish, and Australian subjects (4165, 2269, and 1491 subjects, respectively). They found an association between 2 single-nucleotide polymorphisms (SNPs) at chromosome 1p36, rs7524102 and rs6696981, with both hip bone mineral density and spine bone mineral density. The marker showing the stronger association, rs7524102, was significant in all study populations, with similar effects on hip bone mineral density among all populations (P = 5.0 x 10(-16)). These SNPs are located in a linkage disequilibrium block that did not contain any known gene. The closest known gene was the zinc finger- and BTB domain-containing-40 gene (ZBTB40; 612106) located in an adjacent linkage disequilibrium block 80 kb downstream from the signal.
By genomewide analysis of a large family with autosomal dominant inheritance of early-onset low spinal BMD, Willaert et al. (2008) obtained a maximum 2-point lod score of 3.07 at marker D1S468 on chromosome 1p36.3, confirming results of previous linkage studies. Microsatellite markers and haplotype analysis delineated a 1.2-Mb candidate region containing about 19 genes. No mutations were detected in the coding regions of the WDR8 (606040) or EGFL3 (604266) genes.
In a study involving 547 ethnically homogeneous adults from 126 multigenerational families from the relatively isolated Chuvash population of the Volga River region of Russia , Karsak et al. (2009) found that nonsynonymous SNPs in or near the CNR2 gene were significantly associated with radiographic hand BMD and breaking/bending resistance index (BBRI). A SNP located more than 80 kb downstream of CNR2, rs4237, showed the strongest association with BMD (family-based association testing = 0.0069).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 3
|
c1847161
| 26,385 |
omim
|
https://www.omim.org/entry/606928
| 2019-09-22T16:09:49 |
{"omim": ["606928"], "synonyms": ["Alternative titles", "BONE MINERAL DENSITY, LOW, SUSCEPTIBILITY TO"]}
|
Head lice infestation
Other namesPediculosis capitis,[1] nits,[2] cooties[3]
Head lice bites on the back of the neck
SpecialtyPediatrics, Infectious disease
SymptomsItching that can result in trouble sleeping[4][5]
Usual onsetUp to six weeks from infestation[5]
CausesHead louse spread by direct contact[4][6]
Diagnostic methodFinding live lice[5]
TreatmentCombing the hair with a fine tooth comb, shaving the head, medications[7]
MedicationMalathion, ivermectin, dimethicone[7]
PrognosisNot serious[7]
FrequencyCommon[5]
Head lice infestation, also known as pediculosis capitis, is the infection of the head hair and scalp by the head louse (Pediculus humanus capitis).[6] Itching from lice bites is common.[5] During a person's first infection, the itch may not develop for up to six weeks.[5] If a person is infected again, symptoms may begin much more quickly.[5] The itch may cause problems with sleeping.[4] Generally, however, it is not a serious condition.[7] While head lice appear to spread some other diseases in Africa, they do not appear to do so in Europe or North America.[6][4]
Head lice are spread by direct contact with the hair of someone who is infected.[4] The cause of head lice infestations are not related to cleanliness.[5] Other animals, such as cats and dogs, do not play a role in transmission.[4] Head lice feed only on human blood and are only able to survive on human head hair.[6][5] When adults, they are about 2 to 3 mm long.[8] When not attached to a human, they are unable to live beyond three days.[5] Humans can also become infected with two other lice – the body louse and the crab louse. To make the diagnosis, live lice must be found.[5] Using a comb can help with detection.[5] Empty eggshells (known as nits) are not sufficient for the diagnosis.[5]
Possible treatments include: combing the hair frequently with a fine tooth comb or shaving the head completely.[7] A number of topical medications are also effective, including malathion, ivermectin, and dimethicone.[7] Dimethicone, which is a silicone oil, is often preferred due to the low risk of side effects.[7] Pyrethroids such as permethrin have been commonly used; however, they have become less effective due to increasing pesticide resistance.[7] There is little evidence for alternative medicines.[9]
Head-lice infestations are common, especially in children.[5] In Europe, they infect between 1 and 20% of different groups of people.[6] In the United States, between 6 and 12 million children are infected a year.[4] They occur more often in girls than boys.[5] It has been suggested that historically, head lice infection were beneficial, as they protected against the more dangerous body louse.[10] Infestations may cause stigmatization of the infected individual.[5]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 4 Prevention
* 5 Treatment
* 5.1 Mechanical measures
* 5.2 Medications
* 5.3 Alternative medicine
* 5.4 Environment
* 6 Epidemiology
* 7 Society and culture
* 8 Other animals
* 9 References
* 10 External links
## Signs and symptoms[edit]
Adult male (left) and female (right) head lice
Head lice are generally uncomfortable, but typically do not constitute a serious condition.[7] The most common symptom is itching of the head, which normally worsens 3 to 4 weeks after the initial infestation. The bite reaction is very mild, and it can be rarely seen between the hairs. Bites can be seen, especially in the neck of long-haired individuals when the hair is pushed aside. Swelling of the local lymph nodes and fever are rare. Itching may cause skin breakdown and uncommonly result in a bacterial infection.[7]
In Ethiopia, head lice appear to be able to spread louse-born epidemic typhus and Bartonella quintana.[6] In Europe, the head lice do not appear to carry these infections.[6]
## Cause[edit]
Head lice are generally spread through direct head-to-head contact with an infested person.[5] Transmission by sharing bedding or clothing such as headwear is much less common.[11] The cause of head lice infestations is not related to cleanliness.[5] Neither hair length nor how often the hair is brushed affect the risk of infection.[12]
Body lice are spread through direct contact with the body, clothing, or other personal items of a person already carrying lice. Pubic lice are most often spread by intimate contact with an infested person. Head lice occur on the head hair, body lice on the clothing, and pubic lice mainly on the hair near the groin. Lice cannot burrow into the skin.[citation needed]
Other lice that infest humans are the body louse and the crab louse. The claws of these three species are adapted to attachment to specific hair diameters.[13]
## Diagnosis[edit]
Play media
Head louse crawling on a hairbrush
Lice comb (Bug Buster) wet combing with conditioner for diagnosis and treatment. Head lice can be seen in foam.
The condition is diagnosed by finding live lice in the hair. Finding empty eggs is not enough.[5] This is made easier by using a magnifying glass or running a comb through the child's hair. In questionable cases, a child can be referred to a health professional. However, the condition is overdiagnosed, with extinct infestations being mistaken for active ones. As a result, lice-killing treatments are more often used on noninfested than infested children.[14] The use of a louse comb is the most effective way to detect living lice.[15] With both methods, special attention should be paid to the area near the ears and the nape of the neck. The use of a magnifying glass to examine the material collected between the teeth of the comb could prevent misdiagnosis.[citation needed]
The presence of nits alone, however, is not an accurate indicator of an active head louse infestation. Generally, white nits are empty egg casings, while brown nits may still contain viable louse larva. One way of determining the nit is to squeeze it between two fingernails; it gives a characteristic snapping pop sound as the egg bursts. Children with nits on their hair have a 35–40% chance of also being infested with living lice and eggs.[15][16] If lice are detected, the entire family needs to be checked (especially children up to the age of 13 years) with a louse comb, and only those who are infested with living lice should be treated. As long as no living lice are detected, the child should be considered negative for head louse infestation. Accordingly, a child should be treated with a pediculicide only when living lice are detected on their hair (not because he/she has louse eggs/nits on the hair and not because the scalp is itchy).[17]
## Prevention[edit]
World War II-era American poster, created to prevent outbreaks of pediculosis among servicemen
Examination of the child's head at regular intervals using a louse comb allows the diagnosis of louse infestation at an early stage. Early diagnosis makes treatment easier and reduces the possibility of infesting others. In times and areas when louse infestations are common, weekly examinations of children, especially those 4–15 years old, carried out by their parents, will aid control. Additional examinations are necessary if the child came in contact with infested individuals, if the child frequently scratches his/her head, or if nits suddenly appear on the child's hair. Keeping long hair tidy could be helpful in the prevention of infestations with head lice.[citation needed]
Clothes, towels, bedding, combs, and brushes, which came in contact with the infested individual, can be disinfected either by leaving them outside for at least two days or by washing them at 60 °C (140 °F) for 30 minutes.[18] This is because adult lice can survive only one to two days without a blood meal and are highly dependent on human body warmth.[19] An insecticidal treatment of the house and furniture is not necessary.[citation needed]
## Treatment[edit]
Main article: Treatment of human head lice
There are a number of treatments effective for head lice. These methods include combs, shaving, medical creams, and hot air.[20] Medical creams usually require two treatments a week apart.[7] Head lice are not justification to keep children home from school as the risk of spread is low.[12]
### Mechanical measures[edit]
Shaving the head can effectively treat lice. Wet combing a few times a day for a few weeks may also get rid of the infestation in half of people. This requires the use of a special lice comb with extra fine teeth. This is the recommended method for infants and women who are pregnant.[7]
Another treatment is the use of heated air applied by a hair dryer. This can be of special use in the early stages of an infestation, since it has very high mortality for eggs.[20]
### Medications[edit]
There are many medications which can kill lice. Dimethicone is between 70 and 97% effective with a low rate of side effects, and thus is seen as the preferred treatment.[7] It works by physical means and there is no evidence of pesticide resistance.[6] Ivermectin is around 80% effective, but can cause local skin irritation. Malathion has an effectiveness around 90%, but there's the possibility of toxicity.[7] Pyrethroids such as permethrin, while commonly used, have lower rates of effectiveness due to the resistance among lice.[7] Effectiveness varies from 10 to 80%, depending on the population studied.[5][7] Medications within a lotion appear to work better than those within a shampoo.[7] Benzyl alcohol appears effective but it is unclear if it is better than standard treatments.[21] Abametapir was approved for medical use in the United States in July 2020.[22]
### Alternative medicine[edit]
Tea tree oil has been promoted as a treatment for head lice; however, there is no clear evidence of its effectiveness.[23][24] A 2012 review of head lice treatment recommended against the use of tea tree oil for children because it could cause skin irritation or allergic reactions, because of contraindications, and because of a lack of knowledge about the oil's safety and effectiveness.[25] Other home remedies, such as putting vinegar, isopropyl alcohol, olive oil, mayonnaise, or melted butter under a shower cap, have been disproven.[9] The CDC states that swimming has no effect on lice, and can decrease the effectiveness of some treatments.[26]
### Environment[edit]
After treatment, people are often instructed to wash all bedding and vacuum all areas the head may have been, such as car seats, coat hoods, and sofas, but this is not always necessary, since adult lice will die within 2 days without a blood meal, and newly hatched lice die within minutes of hatching.[20] Combs and brushes may be deloused in boiling water for 5–10 minutes. Items may also be frozen for 24 hours well below the freezing point of water to ensure that ice crystals form within the cells of the lice.[27]
## Epidemiology[edit]
> Reliable data describing the usual incidence of infestation in the general public, in the average school community, or during specific times of the year are lacking.
>
> — Janis Hootman, 2002[28]
The number of cases of human louse infestations (or pediculosis) has increased worldwide since the mid-1960s, reaching hundreds of millions annually.[29] It is estimated between 1 and 20% of specific groups in Europe are infected.[6]
Despite improvements in medical treatment and prevention of human diseases during the 20th century, head louse infestation remains stubbornly prevalent. In 1997, 80% of American elementary schools reported at least one outbreak of lice.[30] Lice infestation during that same period was more prevalent than chickenpox.[30]
About 6–12 million children between the ages of 3 and 11 are treated annually for head lice in the United States alone.[11] High levels of louse infestations have also been reported from all over the world, including Israel, Denmark, Sweden, U.K., France, and Australia.[17][31]
The United Kingdom's National Health Service report that lice have no preference for any type of hair be it clean, dirty, or short.[32] The number of children per family, the sharing of beds and closets, hair washing habits, local customs and social contacts, healthcare in a particular area (e.g. school), and socioeconomic status were found to be factors in head louse infestation in Iran.[33] Other studies found no relationship between frequency of brushing or shampooing.[34] The California Department of Public Health indicates that chronic head lice infestation may be a sign of socioeconomic or family problems.[35] Children between 4 and 13 years of age are the most frequently infested group.[36] In the U.S., African-American children have lower rates of infestation.[11]
Head lice (Pediculus humanus capitis) infestation is most frequent on children aged 3–10 and their families.[34] Females get head lice twice as often as males,[34] and infestation in persons of Afro-Caribbean or other black descent is rare because of hair consistency.[34] But these children may have nits that hatch and the live lice could be transferred by head contact to other children.[37]
## Society and culture[edit]
* To a Louse (on a lady's bonnet). Perhaps the most widely known cultural reference to pediculosis capitis, occurring in a noted poem by Robert Burns.
## Other animals[edit]
Lice infestation in general is known as pediculosis, and occurs in many mammalian and bird species.[38] Lice infesting other host species are not the same organism as that which causes head lice infestations in humans, nor do the three louse species which infest humans infest any other host species.[citation needed]
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
2. ^ "How to treat nits". nhs.uk. 14 September 2012. Archived from the original on 17 October 2014. Retrieved 23 October 2014.
3. ^ "cootie". dictionary.reference.com. Archived from the original on 7 November 2014. Retrieved 23 October 2014.
4. ^ a b c d e f g "Parasites - Lice - Head Lice Frequently Asked Questions (FAQs)". cdc.gov. 24 September 2013. Archived from the original on 15 October 2014. Retrieved 23 October 2014.
5. ^ a b c d e f g h i j k l m n o p q r s t Smith CH, Goldman RD (August 2012). "An incurable itch: head lice". Canadian Family Physician. 58 (8): 839–41. PMC 3418981. PMID 22893334.
6. ^ a b c d e f g h i Feldmeier H (September 2012). "Pediculosis capitis: new insights into epidemiology, diagnosis and treatment". European Journal of Clinical Microbiology & Infectious Diseases. 31 (9): 2105–10. doi:10.1007/s10096-012-1575-0. PMID 22382818. S2CID 18287060.
7. ^ a b c d e f g h i j k l m n o p q "Head lice. Dimeticone is the pediculicide of choice". Prescrire International. 23 (151): 187–90. July 2014. PMID 25162097.
8. ^ "Parasites - Lice - Head Lice". cdc.gov. 24 September 2013. Archived from the original on 23 November 2014. Retrieved 23 October 2014.
9. ^ a b Takano-Lee M, Edman JD, Mullens BA, Clark JM (December 2004). "Home remedies to control head lice: assessment of home remedies to control the human head louse, Pediculus humanus capitis (Anoplura: Pediculidae)". Journal of Pediatric Nursing. 19 (6): 393–8. doi:10.1016/j.pedn.2004.11.002. PMID 15637580.
10. ^ Rózsa L, Apari P (May 2012). "Why infest the loved ones--inherent human behaviour indicates former mutualism with head lice". Parasitology. 139 (6): 696–700. doi:10.1017/S0031182012000017. PMID 22309598.
11. ^ a b c Division of Parasitic Diseases (DPD), National Center for Zoonotic, Vector-Borne, and Enteric Diseases (ZVED) (16 May 2008). "Head lice fact sheet". Centers for Disease Control and Prevention website. Atlanta, GA: Department of Health and Human Services, US Government. Archived from the original on 7 March 2010. Retrieved 28 May 2010.
12. ^ a b Devore CD, Schutze GE (May 2015). "Head lice". Pediatrics. 135 (5): e1355-65. doi:10.1542/peds.2015-0746. PMID 25917986.
13. ^ Hoffman BL, Williams JW (2012). Williams gynecology (2nd ed.). New York: McGraw-Hill Medical. p. 90. ISBN 9780071716727. OCLC 779244257.
14. ^ Pollack RJ, Kiszewski AE, Spielman A (August 2000). "Overdiagnosis and consequent mismanagement of head louse infestations in North America". The Pediatric Infectious Disease Journal. 19 (8): 689–93, discussion 694. doi:10.1097/00006454-200008000-00003. PMID 10959734. S2CID 2557006.
15. ^ a b Mumcuoglu KY, Friger M, Ioffe-Uspensky I, Ben-Ishai F, Miller J (2001). "Louse comb versus direct visual examination for the diagnosis of head louse infestations". Pediatric Dermatology. 18 (1): 9–12. doi:10.1046/j.1525-1470.2001.018001009.x. PMID 11207962. S2CID 27464495.
16. ^ Williams LK, Reichert A, MacKenzie WR, Hightower AW, Blake PA (May 2001). "Lice, nits, and school policy". Pediatrics. 107 (5): 1011–5. doi:10.1542/peds.107.5.1011. PMID 11331679.
17. ^ a b Mumcuoglu KY, Barker SC, Burgess IE, Combescot-Lang C, Dalgleish RC, Larsen KS, Miller J, Roberts RJ, Taylan-Ozkan A (April 2007). "International guidelines for effective control of head louse infestations". Journal of Drugs in Dermatology. 6 (4): 409–14. PMID 17668538.
18. ^ Kidshealth.org – Head lice, page-3 Archived 2010-10-14 at the Wayback Machine
19. ^ Weems, Jr., Howard Vincent; Fasulo, Thomas R. (July 1999). "Body louse and head louse, Pediculus spp". Entomology and Nematology Department. University of Florida. Archived from the original on 4 October 2011. Retrieved 15 June 2020.
20. ^ a b c Goates BM, Atkin JS, Wilding KG, Birch KG, Cottam MR, Bush SE, Clayton DH (November 2006). "An effective nonchemical treatment for head lice: a lot of hot air". Pediatrics. 118 (5): 1962–70. doi:10.1542/peds.2005-1847. PMID 17079567. S2CID 9482708.
21. ^ Burgess IF (May 2011). "Head lice". BMJ Clinical Evidence. 2011. PMC 3275145. PMID 21575285.
22. ^ "Abametapir: FDA-Approved Drugs". U.S. Food and Drug Administration (FDA). Retrieved 25 July 2020.
23. ^ Jacobi T (22 September 2011). "The Basics – The management of head lice". GP: 38. Archived from the original on 16 July 2015. Retrieved 22 October 2014. "All in all, the evidence for alternative treatments, such as tea tree oil and neem seed oil, remains weak."
24. ^ "Tea tree oil". Medline Plus, a service of the U.S. National Library of Medicine from the National Institutes of Health. 27 July 2012. Archived from the original on 25 July 2010.
25. ^ Eisenhower C, Farrington EA (2012). "Advancements in the treatment of head lice in pediatrics". Journal of Pediatric Health Care. 26 (6): 451–61, quiz 462–4. doi:10.1016/j.pedhc.2012.05.004. PMID 23099312.
26. ^ "CDC – Frequently Asked Questions – Healthy Swimming & Recreational Water – Healthy Water". Cdc.gov. 22 October 2012. Archived from the original on 28 October 2012. Retrieved 22 November 2012.
27. ^ Michigan Head Lice Manual. State of Michigan. 2004.[page needed]
28. ^ Hootman J (April 2002). "Quality improvement projects related to pediculosis management". The Journal of School Nursing. 18 (2): 80–6. doi:10.1177/10598405020180020401. PMID 12017250. S2CID 29291526.
29. ^ Norman G. Gratz (1998). "Human lice: Their prevalence, control and resistance to insecticides. A review 1985–1997" (PDF). Geneva, Switzerland: World Health Organization. Archived from the original (PDF) on 8 May 2007. Retrieved 2 January 2008. Cite journal requires `|journal=` (help)
30. ^ a b "A modern scourge: Parents scratch their heads over lice". Consumer Reports. February 1998. pp. 62–63. Retrieved 10 October 2008.
31. ^ Burgess IF (2004). "Human lice and their control". Annual Review of Entomology. 49: 457–81. doi:10.1146/annurev.ento.49.061802.123253. PMID 14651472.
32. ^ "Head lice and nits symptoms and treatment". www.nhsinform.scot. Retrieved 23 January 2019.
33. ^ Moosazadeh M, Afshari M, Keianian H, Nezammahalleh A, Enayati AA (December 2015). "Prevalence of Head Lice Infestation and Its Associated Factors among Primary School Students in Iran: A Systematic Review and Meta-analysis". Osong Public Health and Research Perspectives. 6 (6): 346–56. doi:10.1016/j.phrp.2015.10.011. PMC 4700766. PMID 26835244.
34. ^ a b c d Nutanson I, Steen CJ, Schwartz RA, Janniger CK, et al. (December 2008). "Pediculus humanus capitis: an update" (PDF). Acta Dermatovenerologica Alpina, Pannonica, et Adriatica. 17 (4): 147–54, 156–7, 159. PMID 19104739. Archived from the original (PDF) on 7 August 2011. Retrieved 5 January 2011.
35. ^ "Guidance on Head Lice Prevention and Control For School Districts and Child Care Facilities" (PDF). www.cdph.ca.gov. Retrieved 16 March 2019.
36. ^ Mumcuoglu KY, Miller J, Gofin R, Adler B, Ben-Ishai F, Almog R, Kafka D, Klaus S, et al. (September 1990). "Epidemiological studies on head lice infestation in Israel. I. Parasitological examination of children". International Journal of Dermatology. 29 (7): 502–6. doi:10.1111/j.1365-4362.1990.tb04845.x. PMID 2228380. S2CID 39798857.
37. ^ James GH Dinulos (September 2008). "Lice (Pediculosis)". The Merck Manual. Merck & Co., Inc. Archived from the original on 2 December 2008. Retrieved 27 December 2008.
38. ^ "Lice (Pediculosis)". The Merck Veterinary Manual. Whitehouse Station, NJ USA: Merck & Co. 2008. Archived from the original on 16 January 2009. Retrieved 8 October 2008.
## External links[edit]
* Medicine portal
Classification
D
* ICD-10: B85.0
* MeSH: D010373
* DiseasesDB: 9725
External resources
* MedlinePlus: 000840
* eMedicine: med/1769
* CDC: Head lice
* v
* t
* e
Arthropods and ectoparasite-borne diseases and infestations
Insecta
Louse
* Body louse (pediculosis corporis) / Head louse (head lice infestation)
* Crab louse (phthiriasis)
Hemiptera
* Bed bug (cimicosis)
Fly
* Dermatobia hominis / Cordylobia anthropophaga / Cochliomyia hominivorax (myiasis)
* Mosquito (mosquito-borne disease)
Flea
* Tunga penetrans (tungiasis)
Crustacea
Pentastomida
* Linguatula serrata (linguatulosis)
* Porocephalus crotali / Armillifer armillatus (porocephaliasis)
* For ticks and mites, see Template:Tick and mite-borne diseases and infestations
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Head lice infestation
|
c0030757
| 26,386 |
wikipedia
|
https://en.wikipedia.org/wiki/Head_lice_infestation
| 2021-01-18T18:31:13 |
{"umls": ["C0030757"], "wikidata": ["Q532158"]}
|
Insulinoma
Pathology of pancreatic endocrine tumor (insulinoma).
SpecialtyOncology
An insulinoma is a tumor of the pancreas that is derived from beta cells and secretes insulin. It is a rare form of a neuroendocrine tumor. Most insulinomas are benign in that they grow exclusively at their origin within the pancreas, but a minority metastasize. Insulinomas are one of the functional pancreatic neuroendocrine tumor (PNET) group ("functional" because it increases production of insulin).[1] In the Medical Subject Headings classification, insulinoma is the only subtype of "islet cell adenoma".[2]
Beta cells secrete insulin in response to increases in blood glucose. The resulting increase in insulin acts to lower blood glucose back to normal levels, at which point further secretion of insulin is stopped. In contrast, the secretion of insulin by insulinomas is not properly regulated by glucose, and the tumors continue to secrete insulin causing glucose levels to fall further than normal.
As a result, patients present symptoms of low blood glucose (hypoglycemia), which are improved by eating. The diagnosis of an insulinoma is usually made biochemically with low blood glucose, elevated insulin, proinsulin, and C-peptide levels, and confirmed by localizing the tumor with medical imaging or angiography. The definitive treatment is surgery.
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 2.1 Blood tests
* 2.2 Suppression tests
* 2.3 Diagnostic imaging
* 3 Treatment
* 4 Prognosis
* 5 Incidence
* 6 History
* 7 Additional images
* 8 See also
* 9 References
* 9.1 Books
* 10 External links
## Signs and symptoms[edit]
Patients with insulinomas usually develop neuroglycopenic symptoms. These include recurrent headache, lethargy, diplopia, and blurred vision, particularly with exercise or fasting. Severe hypoglycemia may result in seizures, coma, and permanent neurological damage. Symptoms resulting from the catecholaminergic response to hypoglycemia (i.e. tremulousness, palpitations, tachycardia, sweating, hunger, anxiety, nausea) are not as common. Sudden weight gain is sometimes seen.[citation needed]
## Diagnosis[edit]
The diagnosis of insulinoma is suspected in a patient with symptomatic fasting hypoglycemia. The conditions of Whipple’s triad need to be met for the diagnosis of "true hypoglycemia" to be made:[citation needed]
1. symptoms and signs of hypoglycemia,
2. concomitant plasma glucose level of 45 mg/dL (2.5 mmol/L) or less, and
3. reversibility of symptoms with administration of glucose.
### Blood tests[edit]
These blood tests are needed to diagnose insulinoma:[citation needed]
* glucose
* insulin
* C-peptide
If available, a proinsulin level might be useful, as well. Other blood tests may help rule out other conditions which can cause hypoglycemia.
### Suppression tests[edit]
Normally, endogenous insulin production is suppressed in the setting of hypoglycemia. A 72-hour fast, usually supervised in a hospital setting, can be done to see if insulin levels fail to suppress, which is a strong indicator of the presence of an insulin-secreting tumor.
During the test, the patient may have calorie-free and caffeine-free liquids. Capillary blood glucose is measured every 4 hours using a reflectance meter, until values < 60 mg/dL (3.3 mmol/L) are obtained. Then, the frequency of blood glucose measurement is increased to every hour until values are < 49 mg/dL (2.7 mmol/L). At that point, or when the patient has symptoms of hypoglycemia, a blood test is drawn for serum glucose, insulin, proinsulin, and C-peptide levels. The fast is then stopped at that point, and the hypoglycemia treated with intravenous dextrose or carbohydrate-containing food or drink.[citation needed]
### Diagnostic imaging[edit]
The insulinoma might be localized by noninvasive means, using ultrasound, CT scan, or MRI techniques. An indium-111 pentetreotide scan is more sensitive than ultrasound, CT, or MRI for detection of somatostatin receptor positive tumors, but not a good diagnostic tool for insulinomas. An endoscopic ultrasound has a sensitivity of 40-93% (depending on the location of the tumor) for detecting insulinomas.[3]
Sometimes, angiography with percutaneous transhepatic pancreatic vein catheterization to sample the blood for insulin levels is required. Calcium can be injected into selected arteries to stimulate insulin release from various parts of the pancreas, which can be measured by sampling blood from their respective veins. The use of calcium stimulation improves the specificity of this test.[citation needed]
During surgery to remove an insulinoma, an intraoperative ultrasound can sometimes localize the tumor, which helps guide the surgeon in the operation and has a higher sensitivity than noninvasive imaging tests.[citation needed]
## Treatment[edit]
Gross appearance of insulinoma showing typical red-brown appearance of tumor
The definitive management is surgical removal of the insulinoma. This may involve removing part of the pancreas, as well (Whipple procedure and distal pancreatectomy). Medications such as diazoxide and somatostatin can be used to block the release of insulin for patients who are not surgical candidates or who otherwise have inoperable tumors. Streptozotocin is used in islet cell carcinomas which produce excessive insulin. Combination chemotherapy is used, either doxorubicin and streptozotocin, or fluorouracil and streptotozocin in patients where doxorubicin is contraindicated. In metastasizing tumors with intrahepatic growth, hepatic arterial occlusion or embolization can be used.[citation needed]
## Prognosis[edit]
Most patients with benign insulinomas can be cured with surgery. Persistent or recurrent hypoglycemia after surgery tends to occur in patients with multiple tumors. About 2% of patients develop diabetes mellitus after their surgery.[citation needed]
## Incidence[edit]
Insulinomas are rare neuroendocrine tumors with an incidence estimated at one to four new cases per million persons per year. Insulinoma is one of the most common types of tumors arising from the islets of Langerhans cells (pancreatic endocrine tumors). Estimates of malignancy (metastases) range from 5 to 30%. Over 99% of insulinomas originate in the pancreas, with rare cases from ectopic pancreatic tissue. About 5% of cases are associated with tumors of the parathyroid glands and the pituitary (multiple endocrine neoplasia type 1) and are more likely to be multiple and malignant. Most insulinomas are small, less than 2 cm.[citation needed]
## History[edit]
Hypoglycemia was first recognized in the 19th century. In the 1920s, after the discovery of insulin and its use in the treatment of diabetics, hyperinsulinism was suspected to be a cause of hypoglycemia in nondiabetics. A pioneering description of hyperinsulinism as a cause of hypoglycemia was published by Seale Harris in 1924. The first report of a surgical cure of hypoglycemia by removing an islet cell tumour was in 1929.
An insulinoma removed from a woman in Munich provided insulin mRNA that was used in the first human gene cloning experiment. In 1979, Axel Ulrich cloned this gene into E. coli. Most therapeutic insulin used today derives from this woman's tumor.[4]
## Additional images[edit]
* * * *
## See also[edit]
* Causes of hypoglycemia
* Metastatic Insulinoma
## References[edit]
1. ^ Burns, WR; Edil, BH (March 2012). "Neuroendocrine pancreatic tumors: guidelines for management and update". Current Treatment Options in Oncology. 13 (1): 24–34. doi:10.1007/s11864-011-0172-2. PMID 22198808. S2CID 7329783.
2. ^ MeSH website, tree at: "Pancreatic Neoplasms [C04.588.322.475]", accessed 16 October 2014
3. ^ Sotoudehmanesh R, Hedayat A, Shirazian N, Shahraeeni S, Ainechi S, Zeinali F, Kolahdoozan S (June 2007). "Endoscopic ultrasonography (EUS) in the localization of insulinoma". Endocrine. 31 (3): 238–41. doi:10.1007/s12020-007-0045-4. PMID 17906369. S2CID 5634475.
4. ^ "Genentech and Axel Ulrich clone the human insulin gene". Tacomed.com. Archived from the original on 27 September 2017. Retrieved 13 June 2017.
### Books[edit]
* Larsen PR, Williams RL (2003). Williams textbook of endocrinology (10th ed.). Philadelphia: WB Saunders. ISBN 978-0-7216-9184-8.
* Doppman JL, Chang R, Fraker DL, et al. (Aug 1995). "Localization of insulinomas to regions of the pancreas by intra-arterial stimulation with calcium". Annals of Internal Medicine. 123 (4): 269–73. doi:10.7326/0003-4819-123-4-199508150-00004. PMID 7611592. S2CID 20993342.
* Service FJ. Insulinoma. In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2005.
## External links[edit]
Classification
D
* ICD-10: C25.4, D13.7
* ICD-9-CM: 157.4, 211.7
* ICD-O: M8151/1
* MeSH: D007340
* DiseasesDB: 6830
External resources
* MedlinePlus: 000387
* eMedicine: med/2677
* v
* t
* e
Disease of the pancreas and glucose metabolism
Diabetes
* Types
* type 1
* type 2
* gestational
* MODY 1 2 3 4 5 6
* Complications
* See Template:Diabetes
Abnormal blood glucose levels
* Hyperglycaemia
* Oxyhyperglycemia
* Hypoglycaemia
* Whipple's triad
Insulin disorders
* Insulin resistance
* Hyperinsulinism
* Rabson–Mendenhall syndrome
Other pancreatic disorders
* Insulinoma
* Insulitis
* v
* t
* e
Glandular and epithelial cancer
Epithelium
Papilloma/carcinoma
* Small-cell carcinoma
* Combined small-cell carcinoma
* Verrucous carcinoma
* Squamous cell carcinoma
* Basal-cell carcinoma
* Transitional cell carcinoma
* Inverted papilloma
Complex epithelial
* Warthin's tumor
* Thymoma
* Bartholin gland carcinoma
Glands
Adenomas/
adenocarcinomas
Gastrointestinal
* tract: Linitis plastica
* Familial adenomatous polyposis
* pancreas
* Insulinoma
* Glucagonoma
* Gastrinoma
* VIPoma
* Somatostatinoma
* Cholangiocarcinoma
* Klatskin tumor
* Hepatocellular adenoma/Hepatocellular carcinoma
Urogenital
* Renal cell carcinoma
* Endometrioid tumor
* Renal oncocytoma
Endocrine
* Prolactinoma
* Multiple endocrine neoplasia
* Adrenocortical adenoma/Adrenocortical carcinoma
* Hürthle cell
Other/multiple
* Neuroendocrine tumor
* Carcinoid
* Adenoid cystic carcinoma
* Oncocytoma
* Clear-cell adenocarcinoma
* Apudoma
* Cylindroma
* Papillary hidradenoma
Adnexal and
skin appendage
* sweat gland
* Hidrocystoma
* Syringoma
* Syringocystadenoma papilliferum
Cystic, mucinous,
and serous
Cystic general
* Cystadenoma/Cystadenocarcinoma
Mucinous
* Signet ring cell carcinoma
* Krukenberg tumor
* Mucinous cystadenoma / Mucinous cystadenocarcinoma
* Pseudomyxoma peritonei
* Mucoepidermoid carcinoma
Serous
* Ovarian serous cystadenoma / Pancreatic serous cystadenoma / Serous cystadenocarcinoma / Papillary serous cystadenocarcinoma
Ductal, lobular,
and medullary
Ductal carcinoma
* Mammary ductal carcinoma
* Pancreatic ductal carcinoma
* Comedocarcinoma
* Paget's disease of the breast / Extramammary Paget's disease
Lobular carcinoma
* Lobular carcinoma in situ
* Invasive lobular carcinoma
Medullary carcinoma
* Medullary carcinoma of the breast
* Medullary thyroid cancer
Acinar cell
* Acinic cell carcinoma
* 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
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Insulinoma
|
c0021670
| 26,387 |
wikipedia
|
https://en.wikipedia.org/wiki/Insulinoma
| 2021-01-18T18:36:47 |
{"gard": ["3010"], "mesh": ["D007340"], "umls": ["C0021670"], "icd-9": ["211.7", "157.4"], "icd-10": ["D13.7", "C25.4"], "orphanet": ["97279"], "wikidata": ["Q1501239"]}
|
Rud syndrome
SymptomsRUDS
Rud syndrome is a poorly characterized disorder, probably of X-linked recessive inheritance,[1] named after Einar Rud who described 2 patients with the case in 1927 and 1929. It was argued that all reported cases of Rud syndrome are genetically heterogeneous and significantly differ from the original case reports of Rud and that the designation Rud syndrome should be eliminated and that the patients with such diagnosis should be reassigned to other syndromes, such as Refsum disease and Sjögren-Larsson syndrome.[1] Some consider Rud syndrome and Sjögren-Larsson syndrome the same entity and that Rud syndrome doesn't exist.[2][3]
## Contents
* 1 Presentation
* 2 Diagnosis
* 3 Treatment
* 4 Eponym
* 5 References
* 6 External links
## Presentation[edit]
While inclusion criteria for Rud syndrome have varied considerably, the major manifestations includes congenital ichthyosis, hypogonadism, small stature, mental retardation, and epilepsy.[4][5]:502[6]:564 Ocular findings were inconsistently reported and included strabismus, blepharoptosis, blepharospasm, glaucoma, cataract, nystagmus, and retinitis pigmentosa. Other systemic includes metabolic, bony, neurologic, and muscular abnormalities.[4]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (February 2018)
## Treatment[edit]
This section is empty. You can help by adding to it. (February 2018)
## Eponym[edit]
In 1929, the Danish physician Einar Rud described a 22-year-old Danish male had ichthyosis, hypogonadism, short stature, epilepsy, anemia, and polyneuritis. In 1929, he described a 29-year-old female with ichthyosis, hypogonadism, partial gigantism, and diabetes mellitus.[7][8]
## References[edit]
1. ^ a b "OMIM Entry - 308200 - ICHTHYOSIS AND MALE HYPOGONADISM". www.omim.org. Retrieved 2017-10-29.
2. ^ "Whonamedit - dictionary of medical eponyms". www.whonamedit.com. Retrieved 2017-10-29.
3. ^ Happle, Rudolf (January 2012). "Rud syndrome does not exist". European Journal of Dermatology. 22 (1): 7. doi:10.1684/ejd.2011.1601. ISSN 1167-1122. PMID 22067942.
4. ^ a b Kaufman, Lawrence M. (1998). "A syndrome of retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalogram". Ophthalmic Genetics. 19 (2): 69–79. doi:10.1076/opge.19.2.69.2318. PMID 9695088.
5. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
6. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
7. ^ Rud, E (1927). "Et Tilfaelde af infantilisme med tetani, epilepsi, polyneuritis, ichthyosis og anaemi af perniciøs type". Hospitalstidende (Copenhagen) (in Danish). 70: 525–538.
8. ^ Rud, E (1929). "Et tilfaelde af hypogenitalisme (eunuchoidismus femininus) med partiel gigantisme og ichthyosis". Hospitalstidende (Copenhagen) (in Danish). 72: 426–433.
## External links[edit]
Classification
D
* OMIM: 308200
* MeSH: C535878
* DiseasesDB: 29322
External resources
* Orphanet: 431
This genetic disorder article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Rud syndrome
|
c1839989
| 26,388 |
wikipedia
|
https://en.wikipedia.org/wiki/Rud_syndrome
| 2021-01-18T18:45:17 |
{"gard": ["9612"], "mesh": ["C535878", "C537365"], "umls": ["C1839989"], "orphanet": ["431"], "wikidata": ["Q7376681"]}
|
A very rare, chromosomal anomaly characterized by an intrauterine and postanatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia,and a recognisable facial dysmorphism including prominenet forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
1p35.2 microdeletion syndrome
|
None
| 26,389 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=456298
| 2021-01-23T19:10:00 |
{"icd-10": ["Q93.5"], "synonyms": ["Del(1)(p35.2)", "Deletion 1p35.2", "Monosomy 1p35.2"]}
|
Osteosarcoma
Intermediate-magnification micrograph of an osteosarcoma (center and right of image) adjacent to non-malignant bone (left-bottom of image): The top-right of the image has poorly differentiated tumor. Osteoid with a high density of malignant cells is seen between the non-malignant bone and poorly differentiated tumor (H&E stain).
SpecialtyOncology
An osteosarcoma (OS) or osteogenic sarcoma (OGS) (or simply bone cancer) is a cancerous tumor in a bone. Specifically, it is an aggressive malignant neoplasm that arises from primitive transformed cells of mesenchymal origin (and thus a sarcoma) and that exhibits osteoblastic differentiation and produces malignant osteoid.[1]
Osteosarcoma is the most common histological form of primary bone sarcoma.[2] It is most prevalent in teenagers and young adults.[3]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Mechanism
* 4 Diagnosis
* 4.1 Variants
* 5 Treatment
* 6 Prognosis
* 7 Epidemiology
* 8 Other animals
* 8.1 Risk factors
* 8.2 Clinical presentation
* 8.3 Treatment and prognosis
* 8.4 Cats
* 9 References
* 10 Further reading
* 11 External links
## Signs and symptoms[edit]
Many patients first complain of pain that may be worse at night, may be intermittent and of varying intensity and may have been occurring for some time. Teenagers who are active in sports often complain of pain in the lower femur, or immediately below the knee. If the tumor is large, it can present as overt localised swelling. Sometimes a sudden fracture is the first symptom, because the affected bone is not as strong as normal bone and may fracture abnormally with minor trauma. In cases of more deep-seated tumors that are not as close to the skin, such as those originating in the pelvis, localised swelling may not be apparent.[citation needed]
## Causes[edit]
Several research groups are investigating cancer stem cells and their potential to cause tumors along with genes and proteins causative in different phenotypes.[4][5][6] Radiotherapy for unrelated conditions may be a rare cause.[7]
* Familial cases where the deletion of chromosome 13q14 inactivates the retinoblastoma gene is associated with a high risk of osteosarcoma development.
* Bone dysplasias, including Paget's disease of bone, fibrous dysplasia, enchondromatosis, and hereditary multiple exostoses, increase the risk of osteosarcoma.
* Li–Fraumeni syndrome (germline TP53 mutation) is a predisposing factor for osteosarcoma development.
* Rothmund–Thomson syndrome (i.e. autosomal recessive association of congenital bone defects, hair and skin dysplasias, hypogonadism, and cataracts) is associated with increased risk of this disease.
* Large doses of Sr-90, nicknamed bone seeker, increases the risk of bone cancer and leukemia in animals and is presumed to do so in people.[8]
There is no clear association between water fluoridation and cancer or deaths due to cancer, both for cancer in general and also specifically for bone cancer and osteosarcoma.[9] Series of research concluded that concentration of fluoride in water doesn't associate with osteosarcoma. The beliefs regarding association of fluoride exposure and osteosarcoma stem from a study of US National Toxicology program in 1990, which showed uncertain evidence of association of fluoride and osteosarcoma in male rats. But there is still no solid evidence of cancer-causing tendency of fluoride in mice.[10] Fluoridation of water has been practiced around the world to improve citizens' dental health. It is also deemed as major health success.[11] Fluoride concentration levels in water supplies are regulated, such as United States Environmental Protection Agency regulates fluoride levels to not be greater than 4 milligrams per liter.[12] Actually, water supplies already have natural occurring fluoride, but many communities chose to add more fluoride to the point that it can reduce tooth decay.[13] Fluoride is also known for its ability to cause new bone formation.[14] Yet, further research shows no osteosarcoma risks from fluoridated water in humans.[15] Most of the research involved counting number of osteosarcoma patients cases in particular areas which has difference concentrations of fluoride in drinking water.[16] The statistic analysis of the data shows no significant difference in occurrences of osteosarcoma cases in different fluoridated regions.[17] Another important research involved collecting bone samples from osteosarcoma patients to measure fluoride concentration and compare them to bone samples of newly diagnosed malignant bone tumors. The result is that the median fluoride concentrations in bone samples of osteosarcoma patients and tumor controls are not significantly different.[18] Not only fluoride concentration in bones, Fluoride exposures of osteosarcoma patients are also proven to be not significantly different from healthy people.[19]
## Mechanism[edit]
Predilections of osteosarcoma
Osteosarcomas tend to occur at the sites of bone growth, presumably because proliferation makes osteoblastic cells in this region prone to acquire mutations that could lead to transformation of cells (the RB gene and p53 gene are commonly involved). Due to this tendency, high incidence of osteosarcoma is seen in some large dog breeds (St. Bernards and Great Danes). The tumor may be localized at the end of the long bone (commonly in the metaphysis). Most often it affects the proximal end of tibia or humerus, or distal end of femur. Osteosarcoma tends to affect regions around the knee in 60% of cases, 15% around the hip, 10% at the shoulder, and 8% in the jaw. The tumor is solid, hard, irregular ("fir-tree," "moth-eaten", or "sun-burst" appearance on X-ray examination) due to the tumor spicules of calcified bone radiating in right angles. These right angles form what is known as a Codman triangle, which is characteristic but not diagnostic of osteosarcoma. Surrounding tissues are infiltrated.
High-magnification micrograph showing osteoid formation in an osteosarcoma H&E stain
Microscopically: The characteristic feature of osteosarcoma is presence of osteoid (bone formation) within the tumor. Tumor cells are very pleomorphic (anaplastic), some are giant, numerous atypical mitoses. These cells produce osteoid describing irregular trabeculae (amorphous, eosinophilic/pink) with or without central calcification (hematoxylinophilic/blue, granular)—tumor bone. Tumor cells are included in the osteoid matrix. Depending on the features of the tumor cells present (whether they resemble bone cells, cartilage cells, or fibroblast cells), the tumor can be subclassified. Osteosarcomas may exhibit multinucleated osteoclast-like giant cells.[20]
## Diagnosis[edit]
Family physicians and orthopedists rarely see a malignant bone tumor (most bone tumors are benign). The route to osteosarcoma diagnosis usually begins with an X-ray, continues with a combination of scans (CT scan, PET scan, bone scan, MRI) and ends with a surgical biopsy. A characteristic often seen in an X-ray is Codman's triangle, which is basically a subperiosteal lesion formed when the periosteum is raised due to the tumor. Films are suggestive, but bone biopsy is the only definitive method to determine whether a tumor is malignant or benign.
Most times, the early signs of osteosarcoma are caught on X-rays taken during routine dental check-ups. Osteosarcoma frequently develops in the mandible (lower jaw); accordingly, dentists are trained to look for signs that may suggest osteosarcoma. Even though radiographic findings for this cancer vary greatly, one usually sees a symmetrical widening of the periodontal ligament space. If the dentist has reason to suspects osteosarcoma or another underlying disorder, he or she would refer the patient to an Oral & Maxillofacial surgeon for biopsy. A biopsy of suspected osteosarcoma outside of the facial region should be performed by a qualified orthopedic oncologist. The American Cancer Society states: "Probably in no other cancer is it as important to perform this procedure properly. An improperly performed biopsy may make it difficult to save the affected limb from amputation." It may also metastasise to the lungs, mainly appearing on the chest X-ray as solitary or multiple round nodules most common at the lower regions.
### Variants[edit]
* Conventional: osteoblastic, chondroblastic, fibroblastic OS
* Telangiectatic OS
* Small cell OS
* Low-grade central OS
* Periosteal OS
* Paraosteal OS
* Secondary OS
* High-grade surface OS
* Extraskeletal OS
[21]
## Treatment[edit]
A complete radical, surgical, en bloc resection of the cancer, is the treatment of choice in osteosarcoma.[2] Although about 90% of patients are able to have limb-salvage surgery, complications, particularly infection, prosthetic loosening and non-union, or local tumor recurrence may cause the need for further surgery or amputation.
Mifamurtide is used after a patient has had surgery to remove the tumor and together with chemotherapy to kill remaining cancer cells to reduce the risk of cancer recurrence. Also, the option to have rotationplasty after the tumor is taken out exists.[22]
Patients with osteosarcoma are best managed by a medical oncologist and an orthopedic oncologist experienced in managing sarcomas. Current standard treatment is to use neoadjuvant chemotherapy (chemotherapy given before surgery) followed by surgical resection. The percentage of tumor cell necrosis (cell death) seen in the tumor after surgery gives an idea of the prognosis and also lets the oncologist know if the chemotherapy regimen should be altered after surgery.
Standard therapy is a combination of limb-salvage orthopedic surgery when possible (or amputation in some cases) and a combination of high-dose methotrexate with leucovorin rescue, intra-arterial cisplatin, adriamycin, ifosfamide with mesna, BCD (bleomycin, cyclophosphamide, dactinomycin), etoposide, and muramyl tripeptide.[23] Rotationplasty may be used. Ifosfamide can be used as an adjuvant treatment if the necrosis rate is low.
Despite the success of chemotherapy for osteosarcoma, it has one of the lowest survival rates for pediatric cancer. The best reported 10-year survival rate is 92%; the protocol used is an aggressive intra-arterial regimen that individualizes therapy based on arteriographic response.[24] Three-year event-free survival ranges from 50% to 75%, and five-year survival ranges from 60% to 85+% in some studies. Overall, 65–70% patients treated five years ago will be alive today.[25] These survival rates are overall averages and vary greatly depending on the individual necrosis rate.
Filgrastim or pegfilgrastim help with white blood cell counts and neutrophil counts. Blood transfusions and epoetin alfa help with anemia. Computational analysis on a panel of osteosarcoma cell lines identified new shared and specific therapeutic targets (proteomic and genetic) in osteosarcoma, while phenotypes showed an increased role of tumor microenvironments.[26]
## Prognosis[edit]
Prognosis is separated into three groups.
* Stage I osteosarcoma is rare and includes parosteal osteosarcoma or low-grade central osteosarcoma. It has an excellent prognosis (>90%) with wide resection.
* Stage II prognosis depends on the site of the tumor (proximal tibia, femur, pelvis, etc.), size of the tumor mass, and the degree of necrosis from neoadjuvant chemotherapy. Other pathological factors such as the degree of p-glycoprotein, whether the tumor is cxcr4-positive,[27] or Her2-positive are also important, as these are associated with distant metastases to the lung. The prognosis for patients with metastatic osteosarcoma improves with longer times to metastases (more than 12 months to 4 months), a smaller number of metastases, and their resectability. It is better to have fewer metastases than longer time to metastases. Those with a longer length of time (more than 24 months) and few nodules (two or fewer) have the best prognosis, with a two-year survival after the metastases of 50%, five-year of 40%, and 10-year of 20%. If metastases are both local and regional, the prognosis is worse.
* Initial presentation of stage III osteosarcoma with lung metastases depends on the resectability of the primary tumor and lung nodules, degree of necrosis of the primary tumor, and maybe the number of metastases. Overall survival prognosis is about 30%.[28]
Deaths due to malignant neoplasms of the bones and joints account for an unknown number of childhood cancer deaths. Mortality rates due to osteosarcoma have been declining at about 1.3% per year. Long-term survival probabilities for osteosarcoma have improved dramatically during the late 20th century and approximated 68% in 2009.[2]
## Epidemiology[edit]
Osteosarcoma is the eighth-most common form of childhood cancer, comprising 2.4% of all malignancies in pediatric patients, and about 20% of all primary bone cancers.[2]
Incidence rates for osteosarcoma in U.S. patients under 20 years of age are estimated at 5.0 per million per year in the general population, with a slight variation between individuals of black, Hispanic, and white ethnicities (6.8, 6.5, and 4.6 per million per year, respectively). It is slightly more common in males (5.4 per million per year) than in females (4.0 per million per year).[2]
It originates more frequently in the metaphyseal region of tubular long bones, with 42% occurring in the femur, 19% in the tibia, and 10% in the humerus. About 8% of all cases occur in the skull and jaw, and another 8% in the pelvis.[2]
Around 300 of the 900 people diagnosed in the United States will die each year. A second peak in incidence occurs in the elderly, usually associated with an underlying bone pathology such as Paget's disease of bone.
## Other animals[edit]
X-ray of osteosarcoma of the distal femur in a dog
### Risk factors[edit]
Osteosarcoma is the most common bone tumor in dogs and typically afflicts middle-aged large and giant breed dogs such as Irish Wolfhounds, Greyhounds, German Shepherds, Rottweilers, mountain breeds (Great Pyrenees, St. Bernard, Leonberger, Newfoundland), Doberman Pinschers and Great Danes. It has a 10-fold greater incidence in dogs than humans.[29] A hereditary base has been shown in St. Bernard dogs.[30] Spayed/neutered dogs have twice the risk of intact ones to develop osteosarcoma.[31] Infestation with the parasite Spirocerca lupi can cause osteosarcoma of the esophagus.[32]
### Clinical presentation[edit]
The most commonly affected bones are the proximal humerus, the distal radius, the distal femur, and the tibia,[33] following the basic premise "far from the elbow, close to the knee". Other sites include the ribs, the mandible, the spine, and the pelvis. Rarely, osteosarcoma may arise from soft tissues (extraskeletal osteosarcoma). Metastasis of tumors involving the limb bones is very common, usually to the lungs. The tumor causes a great deal of pain, and can even lead to fracture of the affected bone. As with human osteosarcoma, bone biopsy is the definitive method to reach a final diagnosis. Osteosarcoma should be differentiated from other bone tumours and a range of other lesions, such as osteomyelitis. Differential diagnosis of the osteosarcoma of the skull in particular includes, among others, chondrosarcoma and the multilobular tumour of bone.[34][35]
### Treatment and prognosis[edit]
Amputation is the initial treatment, although this alone will not prevent metastasis. Chemotherapy combined with amputation improves the survival time, but most dogs still die within a year.[33] Surgical techniques designed to save the leg (limb-sparing procedures) do not improve the prognosis.
Some current studies indicate osteoclast inhibitors such as alendronate and pamidronate may have beneficial effects on the quality of life by reducing osteolysis, thus reducing the degree of pain, as well as the risk of pathological fractures.[36]
### Cats[edit]
Osteosarcoma is also the most common bone tumor in cats, although not as frequently encountered, and most typically affects the rear legs. The cancer is generally less aggressive in cats than in dogs, so amputation alone can lead to a significant survival time in many affected cats, though post-amputation chemotherapy is recommended when a high grade is confirmed on histopathology.[33]
## References[edit]
1. ^ Luetke A, Meyers PA, Lewis A, Juergens H (2014). "Osteosarcoma treatment—where do we stand? A state of the art review". Cancer Treat Rev. 40 (4): 523–532. doi:10.1016/j.ctrv.2013.11.006. PMID 24345772.
2. ^ a b c d e f Ottaviani G, Jaffe N (2009). The epidemiology of osteosarcoma. In: Jaffe N. et al. "Pediatric and Adolescent Osteosarcoma". Cancer Treatment and Research. 152. New York: Springer. pp. 3–13. doi:10.1007/978-1-4419-0284-9_1. ISBN 978-1-4419-0283-2. PMID 20213383.
3. ^ "Osteosarcoma". US National Library of Medicine. PubMed Health. 2013.
4. ^ Osuna D, de Alava E (2009). "Molecular pathology of sarcomas". Rev Recent Clin Trials. 4 (1): 12–26. doi:10.2174/157488709787047585. hdl:10261/61716. PMID 19149759. S2CID 15039305.
5. ^ Sharma, Ankush; Cinti, Caterina; Capobianco, Enrico (2017). "Multitype Network-Guided Target Controllability in Phenotypically Characterized Osteosarcoma: Role of Tumor Microenvironment". Frontiers in Immunology. 8: 918. doi:10.3389/fimmu.2017.00918. ISSN 1664-3224. PMC 5536125. PMID 28824643.
6. ^ Sharma, Ankush; Capobianco, Enrico (2017). "Immuno-Oncology Integrative Networks: Elucidating the Influences of Osteosarcoma Phenotypes". Cancer Informatics. 16: 117693511772169. doi:10.1177/1176935117721691. ISSN 1176-9351. PMC 5533255. PMID 28804242.
7. ^ Dhaliwal J, Sumathi VP, Grimer RJ (20 December 2009). "Radiation-induced periosteal osteosarcoma" (PDF). Grand Rounds. 10: 13–18. doi:10.1102/1470-5206.2010.0003 (inactive 2021-01-10).CS1 maint: DOI inactive as of January 2021 (link)
8. ^ "Sr-90 is known to increase the risk of bone cancer and leukemia in animals, and is presumed to do so in people".
9. ^ National Health and Medical Research Council (Australia). A systematic review of the efficacy and safety of fluoridation [PDF]. 2007 [Retrieved 2009-10-13]. ISBN 1-86496-415-4.
10. ^ "Water Fluoridation and Cancer Risk", American Cancer Society, 6 June 2013.
11. ^ "Cancer myth: Fluoride and cancer", Cancer Council Western Australia.
12. ^ "Basic Information about Fluoride in Drinking Water", United States Environmental Protection Agency.
13. ^ "Community Water Fluoridation", Centers of disease control and prevention.
14. ^ "Fluoride", Australian government national health and medical research council.
15. ^ "Fluoridated Water", National Cancer Institute.
16. ^ Blakey K, Feltbower RG, Parslow RC, James PW, Gómez Pozo B, Stiller C, Vincent TJ, Norman P, McKinney PA, Murphy MF, Craft AW, McNally RJ (14 January 2014). "Is fluoride a risk factor for bone cancer? Small area analysis of osteosarcoma and Ewing sarcoma diagnosed among 0-49-year-olds in Great Britain, 1980-2005". International Journal of Epidemiology. 43 (1): 224–234. doi:10.1093/ije/dyt259. PMC 3937980. PMID 24425828.
17. ^ Mahoney MC, Nasca PC, Burnett WS, Melius JM (April 1991). "Bone cancer incidence rates in New York State: time trends and fluoridated drinking water". American Journal of Public Health. 81 (4): 475–9. doi:10.2105/AJPH.81.4.475. PMC 1405037. PMID 2003628.
18. ^ Kim FM, Hayes C, Williams PL, Whitford GM, Joshipura KJ, Hoover RN, Douglass CW, National Osteosarcoma Etiology Group (October 2011). "An assessment of bone fluoride and osteosarcoma". Journal of Dental Research. 90 (10): 1171–6. doi:10.1177/0022034511418828. PMC 3173011. PMID 21799046.
19. ^ Gelberg KH, Fitzgerald EF, Hwang SA, Dubrow R (December 1995). "Fluoride exposure and childhood osteosarcoma: a case-control study". American Journal of Public Health. 85 (12): 1678–83. doi:10.2105/AJPH.85.12.1678. PMC 1615731. PMID 7503344.
20. ^ Papalas JA, Balmer NN, Wallace C, Sangüeza OP (June 2009). "Ossifying dermatofibroma with osteoclast-like giant cells: report of a case and literature review". Am J Dermatopathol. 31 (4): 379–83. doi:10.1097/DAD.0b013e3181966747. PMID 19461244.
21. ^ WHO
22. ^ Luke's Story: Surviving Osteosarcoma, Children's Cancer Research Fund. Accessed 2016-11-07.
23. ^ Sameer Rastogi, Aditi Aggarwal, Akash Tiwari et al. Chemotherapy in Nonmetastatic Osteosarcoma: Recent Advances and Implications for Developing Countries. https://ascopubs.org/doi/full/10.1200/JGO.2016.007336
24. ^ Wilkins RM, Cullen JW, Odom L, Jamroz BA, Cullen PM, Fink K, Peck SD, Stevens SL, Kelly CM, Camozzi AB (June 2003). "Superior survival in treatment of primary nonmetastatic pediatric osteosarcoma of the extremity". Annals of Surgical Oncology. 10 (5): 498–507. doi:10.1245/ASO.2003.03.061. PMID 12794015. S2CID 32721347.
25. ^ Buecker PJ, Gebhardt M, Weber K (2005). "Osteosarcoma". ESUN. Retrieved 2009-04-15.
26. ^ Sharma, Ankush; Cinti, Caterina; Capobianco, Enrico (2017). "Multitype Network-Guided Target Controllability in Phenotypically Characterized Osteosarcoma: Role of Tumor Microenvironment". Frontiers in Immunology. 8: 918. doi:10.3389/fimmu.2017.00918. ISSN 1664-3224. PMC 5536125. PMID 28824643.
27. ^ "osteosarcomasupport.org" (PDF). osteosarcomasupport.org. Retrieved 2012-11-13.
28. ^ Koshkina, NV; Corey, S (2008). "Novel Targets to Treat Osteosarcoma Lung Metastases". ESUN. Retrieved 2009-04-14.
29. ^ Withrow, S.J. (2003). "Limb Sparing Trials and Canine Osteosarcoma". Genes, Dogs and Cancer: 3rd Annual Canine Cancer Conference, 2003. Retrieved 2006-06-16.
30. ^ Bech-Nielsen, S., Haskins, M. E., et al. (1978). "Frequency of osteosarcoma among first-degree relatives of St. Bernard dogs". J Natl Cancer Inst. 60 (2): 349–53. doi:10.1093/jnci/60.2.349. PMID 271748.
31. ^ Ru, B.; Terracini, G.; et al. (1998). "Host related risk factors for canine osteosarcoma". Vet J. 156 (1): 31–9. doi:10.1016/S1090-0233(98)80059-2. PMID 9691849.
32. ^ Ranen E, Lavy E, Aizenberg I, Perl S, Harrus S (2004). "Spirocercosis-associated esophageal sarcomas in dogs. A retrospective study of 17 cases (1997-2003)". Veterinary Parasitology. 119 (2–3): 209–221. doi:10.1016/j.vetpar.2003.10.023. PMID 14746980.
33. ^ a b c Morrison, Wallace B. (1998). Cancer in Dogs and Cats (1st ed.). Williams and Wilkins. ISBN 978-0-683-06105-5.
34. ^ Loukopoulos P, Thornton JR, Robinson WF (May 2003). "Clinical and pathologic relevance of p53 index in canine osseous tumors". Veterinary Pathology. 40 (3): 237–48. doi:10.1354/vp.40-3-237. PMID 12724563.
35. ^ Psychas, V; Loukopoulos, P; Polizopoulou, ZS; Sofianidis, G (March 2009). "Multilobular tumour of the caudal cranium causing severe cerebral and cerebellar compression in a dog". Journal of Veterinary Science. 10 (1): 81–3. doi:10.4142/jvs.2009.10.1.81. PMC 2801101. PMID 19255529.
36. ^ Tomlin JL, Sturgeon C, Pead MJ, Muir P (29 July 2000). "Use of the bisphosphonate drug alendronate for palliative management of osteosarcoma in two dogs". The Veterinary Record. 147 (5): 129–32. doi:10.1136/vr.147.5.129. PMID 10958534. S2CID 35757270.
## Further reading[edit]
* Jaffe, N. (2010). Pediatric and Adolescent Osteosarcoma. New York: Springer. ISBN 978-1-4419-0283-2. Osteosarcoma research: past, present and future.
## External links[edit]
* National Cancer Institute—patient information on osteosarcoma
* Osteosarcoma – An Introduction
* What is osteosarcoma?
Classification
D
* ICD-10: C40-C41
* ICD-9-CM: 170
* ICD-O: M9180/3
* OMIM: 259500
* MeSH: D012516
* DiseasesDB: 9392
* SNOMED CT: 21708004
External resources
* MedlinePlus: 001650
* eMedicine: ped/1684 orthoped/531 radio/504 radio/505
* Orphanet: 668
* v
* t
* e
Tumours of bone and cartilage
Diaphysis
* Multiple myeloma
* Epithelia
* Adamantinoma
* Primitive neuroectodermal tumor
* Ewing family
* Ewing's sarcoma
Metaphysis
Osteoblast
* Osteoid osteoma
* Osteoblastoma
* Osteoma/osteosarcoma
Chondroblast
* Chondroma/ecchondroma/enchondroma
* Enchondromatosis
* Extraskeletal chondroma
* Chondrosarcoma
* Mesenchymal chondrosarcoma
* Myxoid chondrosarcoma
* Osteochondroma
* Osteochondromatosis
* Chondromyxoid fibroma
Fibrous
* Ossifying fibroma
* Fibrosarcoma
Epiphysis
Chondroblast
* Chondroblastoma
Myeloid
* Giant-cell tumor of bone
Other
Notochord
* Chordoma
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Osteosarcoma
|
c0029463
| 26,390 |
wikipedia
|
https://en.wikipedia.org/wiki/Osteosarcoma
| 2021-01-18T18:46:42 |
{"gard": ["7284"], "mesh": ["D012516"], "umls": ["C0029463", "C0206639"], "icd-9": ["170"], "icd-10": ["C41", "C40"], "orphanet": ["668"], "wikidata": ["Q549534"]}
|
Idiopathic pulmonary fibrosis
Other namesCryptogenic fibrosing alveolitis, diffuse fibrosing alveolitis, usual interstitial pneumonitis[1]
Figure A shows the location of the lungs and airways in the body. The inset image shows a detailed view of the lung's airways and air sacs in cross-section.
Figure B shows fibrosis (scarring) in the lungs. The inset image shows a detailed view of the fibrosis and how it damages the airways and air sacs.[1]
SpecialtyPulmonology
SymptomsShortness of breath, dry cough[1]
ComplicationsPulmonary hypertension, heart failure, pneumonia, pulmonary embolism[1]
Usual onsetGradual[1]
CausesUnknown[2]
Risk factorsCigarette smoking, certain viral infections, family history[1]
Diagnostic methodCT scan, lung biopsy[3]
Differential diagnosisSarcoidosis, other interstitial lung diseases, hypersensitivity pneumonitis[4]
TreatmentPulmonary rehabilitation, supplemental oxygen, lung transplantation[1]
MedicationPirfenidone, nintedanib[2]
PrognosisLife expectancy ~ 4 years[1]
Frequency12 per 100,000 people per year[4]
Idiopathic pulmonary fibrosis (IPF) is a type of chronic scarring lung disease characterized by a progressive and irreversible decline in lung function.[3][4] The tissue in the lungs becomes thick and stiff, which affects the tissue that surrounds the air sacs in the lungs.[5] Symptoms typically include gradual onset of shortness of breath and a dry cough.[1] Other changes may include feeling tired, and abnormally large and dome shaped finger and toenails (nail clubbing).[1] Complications may include pulmonary hypertension, heart failure, pneumonia, or pulmonary embolism.[1]
The cause is unknown.[2] Risk factors include cigarette smoking, certain viral infections, and a family history of the condition.[1] The underlying mechanism involves scarring of the lungs.[1] Diagnosis requires ruling out other potential causes.[3] It may be supported by a CT scan or lung biopsy which show usual interstitial pneumonia (UIP).[3] It is a type of interstitial lung disease (ILD).[3]
People often benefit from pulmonary rehabilitation and supplemental oxygen.[1] Certain medications like pirfenidone or nintedanib may slow the progression of the disease.[2] Lung transplantation may also be an option.[1]
About 5 million people are affected globally.[6] The disease newly occurs in about 12 per 100,000 people per year.[4] Those in their 60s and 70s are most commonly affected.[4] Males are affected more often than females.[4] Average life expectancy following diagnosis is about four years.[1]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Pathogenesis
* 4 Diagnosis
* 4.1 Differential diagnosis
* 4.2 Classification
* 4.3 Radiology
* 4.4 Histology
* 4.5 Bronchoalveolar lavage
* 4.6 Pulmonary function tests
* 5 Treatment
* 5.1 Oxygen therapy
* 5.2 Pulmonary rehabilitation
* 5.3 Medications
* 5.3.1 Pirfenidone
* 5.3.2 N-acetylcysteine and triple therapy
* 5.3.3 Nintedanib
* 5.4 Lung transplantation
* 5.5 Palliative care
* 5.6 Follow-up
* 5.7 Acute exacerbations
* 6 Prognosis
* 7 Epidemiology
* 8 Other animals
* 9 Research
* 10 References
* 11 External links
## Signs and symptoms[edit]
Clubbing of the fingers in idiopathic pulmonary fibrosis
Lung sound in IPF
velcro crackles on auscultation in a person with IPF
* * *
Problems playing this file? See media help.
In many people, symptoms are present for a considerable time before diagnosis.[6] The most common clinical features of IPF include the following:[3][7][8]
* Age over 50 years
* Dry, non-productive cough on exertion
* Progressive exertional dyspnea (shortness of breath with exercise)
* Dry, inspiratory bibasilar "velcro-like" crackles on auscultation (a crackling sound in the lungs during inhalation similar to Velcro being torn apart slowly, heard with a stethoscope).[3][9][10]
* Clubbing of the digits, a disfigurement of the finger tips or toes (see image)
* Abnormal pulmonary function test results, with evidence of restriction and impaired gas exchange.
Some of these features are due to chronic hypoxemia (oxygen deficiency in the blood), are not specific for IPF, and can occur in other pulmonary disorders. IPF should be considered in all patients with unexplained chronic exertional dyspnea who present with cough, inspiratory bibasilar crackles, or finger clubbing.[3]
Assessment of "velcro" crackles on lung auscultation is a practical way to improve the earlier diagnosis of IPF. Fine crackles are easily recognized by clinicians and are characteristic of IPF.[11]
If bilateral fine crackles are present throughout the inspiratory time and are persisting after several deep breaths, and if remaining present on several occasions several weeks apart in a subject aged ≥60 years, this should raise the suspicion of IPF and lead to consideration of an HRCT scan of the chest which is more sensitive than a chest X-ray.[10] As crackles are not specific for IPF, they must prompt a thorough diagnostic process.[3]
## Causes[edit]
The cause of IPF is unknown but certain environmental factors and exposures have been shown to increase the risk of getting IPF.[12] Cigarette smoking is the best recognized and most accepted risk factor for IPF, and increases the risk of IPF by about twofold.[12] Other environmental and occupation exposures such as exposure to metal dust, wood dust, coal dust, silica, stone dust, biologic dusts coming from hay dust or mold spores or other agricultural products, and occupations related to farming/livestock have also been shown to increase the risk for IPF.[12] There is some evidence that viral infections may be associated with idiopathic pulmonary fibrosis and other fibrotic lung diseases.[13]
## Pathogenesis[edit]
Despite extensive investigation, the cause of IPF remains unknown.[3] The fibrosis in IPF has been linked to cigarette smoking, environmental factors (e.g. occupational exposure to gases, smoke, chemicals or dusts), other medical conditions including gastroesophageal reflux disease (GERD), or to genetic predisposition (familial IPF). However, none of these is present in all people with IPF and therefore do not provide a completely satisfactory explanation for the disease.[3][14]
IPF is believed to be the result of an aberrant wound healing process including/involving abnormal and excessive deposition of collagen (fibrosis) in the pulmonary interstitium with minimal associated inflammation.[15] Cellular senescence is suspected to be a central contributing cause, a belief which is supported by benefits seen in patients given senolytic therapy.[16][17][18]
It is hypothesized that the initial or repetitive injury in IPF occurs to the lung cells, called alveolar epithelial cells (AECs, pneumocytes), which line the majority of the alveolar surface.[19] When type I AECs are damaged or lost, it is thought that type II AECs undergo proliferation to cover the exposed basement membranes. In normal repair, the hyperplastic type II AECs die and the remaining cells spread and undergo a differentiation process to become type I AECs. Under pathologic conditions and in the presence of transforming growth factor beta (TGF-β), fibroblasts accumulate in these areas of damage and differentiate into myofibroblasts that secrete collagen and other proteins.[19] In the past, it was thought that inflammation was the first event in initiating lung tissue scarring. Later findings showed that the development of fibroblastic foci precedes the accumulation of inflammatory cells and the consequent deposition of collagen.[20] This pathogenetic model is indirectly supported by the clinical features of IPF, including an insidious onset over several years, relatively infrequent acute exacerbations, and failure to respond to immunosuppressive therapy.[15][21] A number of therapies that target fibroblast activation or the synthesis of extracellular matrix are currently in early testing or are being considered for development.[citation needed]
Familial IPF accounts for less than 5% of the total of patients with IPF and is clinically and histologically indistinguishable from sporadic IPF.[3] Genetic associations include mutations in pulmonary surfactant proteins A1, A2, C (SFTPA1, SFTPA2B) and mucin (MUC5B).[22] A remarkable aspect of the MUC5B variant is its high frequency of detection, as it is found in approximately 20% of individuals with Northern and Western European ancestry and in 19% of the Framingham Heart Study population.[23] Mutations in human telomerase genes are also associated with familial pulmonary fibrosis and in some patients with sporadic IPF (e.g. the TERT, TERC genes).[22] Recently an X-linked mutation in a third telomerase-associated gene, dyskerin (DKC1), has been described in a family with IPF.[24][unreliable medical source?]
## Diagnosis[edit]
An earlier diagnosis of IPF is a prerequisite for earlier treatment and, potentially, improvement of the long-term clinical outcome of this progressive and ultimately fatal disease.[3] If IPF is suspected, diagnosis can be challenging but a multidisciplinary approach involving a pulmonologist, radiologist and pathologist expert in interstitial lung disease has been shown to improve the accuracy of IPF diagnosis.[3][25][26]
A Multidisciplinary Consensus Statement on the Idiopathic Interstitial Pneumonias published by the American Thoracic Society (ATS) and the European Respiratory Society (ERS) in 2000 proposed specific major and minor criteria for establishing the diagnosis of IPF.[3] However, in 2011, new simplified and updated criteria for the diagnosis and management of IPF were published by the ATS, ERS, together with the Japanese Respiratory Society (JRS) and Latin American Thoracic Association (ALAT).[3] Currently, a diagnosis of IPF requires:
* Exclusion of known causes of ILD, e.g., domestic and occupational environmental exposures, connective tissue disorders, or drug exposure/toxicity
* The presence of a typical radiological pattern of usual interstitial pneumonia (UIP) on high-resolution computed tomography (HRCT).
In the right clinical setting, it is possible to make the diagnosis of IPF by HRCT alone, obviating the need for surgical lung biopsy.[3][7]
### Differential diagnosis[edit]
Recognizing IPF in clinical practice can be challenging as symptoms often appear similar to those of more common diseases, such as asthma, chronic obstructive pulmonary disease (COPD) and congestive heart failure (www.diagnoseipf.com). The key issue facing clinicians is whether the presenting history, symptoms (or signs), radiology, and pulmonary function testing are collectively in keeping with the diagnosis of IPF or whether the findings are due to another process. It has long been recognized that patients with ILD related to asbestos exposure, drugs (such as chemotherapeutic agents or nitrofurantoin), rheumatoid arthritis and scleroderma/systemic sclerosis may be difficult to distinguish from IPF. Other differential diagnostic considerations include interstitial lung disease related to mixed connective tissue disease, advanced sarcoidosis, chronic hypersensitivity pneumonitis, pulmonary Langerhan's cell histiocytosis and radiation-induced lung injury.[3][7]
### Classification[edit]
Classification of IIPs.[7]
Idiopathic pulmonary fibrosis (IPF) belongs to a large group of more than 200 lung diseases known as interstitial lung diseases (ILDs), which are characterized by the involvement of the lung interstitium,[7] the tissue between the air sacs of the lung. IPF is one specific presentation of idiopathic interstitial pneumonia (IIP), which is in turn a type of ILD, also known as diffuse parenchymal lung disease (DPLD).[citation needed]
The 2002 American Thoracic Society/European Respiratory Society (ATS/ERS) classification of IIPs was updated in 2013.[7] In this new classification there are three main categories of idiopathic interstitial pneumonias (IIPs): major IIPs, rare IIPs, and unclassifiable IIPs. The major IIPs are grouped into chronic fibrosing IPs (this includes IPF and non-specific interstitial pneumonia [NSIP]); smoking-related IPs (i.e. respiratory bronchiolitis–interstitial lung disease [RB-ILD] and desquamative interstitial pneumonia [DIP]); and acute/subacute IPs (i.e. cryptogenic organizing pneumonia [COP] and acute interstitial pneumonia [AIP]).[7]
The diagnosis of IIPs requires exclusion of known causes of ILD. Examples of ILD of known cause include hypersensitivity pneumonitis, pulmonary Langerhan's cell histiocytosis, asbestosis, and collagen vascular disease. However, these disorders frequently affect not only the interstitium, but also the airspaces, peripheral airways, and blood vessels.[7]
### Radiology[edit]
Chest X-rays are useful in the follow up routine of IPF patients. Plain chest X-rays are unfortunately not diagnostic but may reveal decreased lung volumes, typically with prominent reticular interstitial markings near the lung bases.[3]
A chest radiograph of a patient with IPF. Note the small lung fields and peripheral pattern of reticulonodular opacification.
The radiological evaluation through HRCT is an essential point in the diagnostic pathway in IPF. HRCT is performed using a conventional computed axial tomographic scanner without injection of contrast agents. Evaluation slices are very thin, 1–2 mm.
Typical HRCT of the chest of IPF demonstrates fibrotic changes in both lungs, with a predilection for the bases and the periphery. According to the joint ATS/ERS/JRS/ALAT 2011 guidelines, HRCT is an essential component of the diagnostic pathway in IPF which can identify UIP by the presence of:[3]
* Reticular opacities, often associated with traction bronchiectasis
* Honeycombing manifested as cluster cystic airspaces, typically of comparable diameters (3–10 mm) but occasionally large. Usually sub-pleural and characterized by well-defined walls and disposed in at least two lines. Generally one line of cysts is not sufficient to define honeycombing
* Ground-glass opacities are common but less extensive than the reticulation
* Distribution characteristically basal and peripheral though often patchy.
High-resolution computed tomography scans of the chest of a patient with IPF. The main features are of a peripheral, predominantly basal pattern of coarse reticulation with honeycombing
### Histology[edit]
According to the updated 2011 guidelines, in the absence of a typical UIP pattern on HRCT, a surgical lung biopsy is required for confident diagnosis.[3]
Histologic specimens for the diagnosis of IPF must be taken at least in three different places and be large enough that the pathologist can comment on the underlying lung architecture. Small biopsies, such as those obtained via transbronchial lung biopsy (performed during bronchoscopy) are usually not sufficient for this purpose. Hence, larger biopsies obtained surgically via a thoracotomy or thoracoscopy are usually necessary.[3][7]
Lung tissue from people with IPF usually show a characteristic histopathologic UIP pattern and is therefore the pathologic counterpart of IPF.[3] Although a pathologic diagnosis of UIP often corresponds to a clinical diagnosis of IPF, a UIP histologic pattern can be seen in other diseases as well, and fibrosis of known origin (rheumatic diseases for example).[1][3] There are four key features of UIP including interstitial fibrosis in a 'patchwork pattern', interstitial scarring, honeycomb changes and fibroblast foci.[citation needed]
Fibroblastic foci are dense collections of myofibroblasts and scar tissue and, together with honeycombing, are the main pathological findings that allow a diagnosis of UIP.
Photomicrograph of the histopathological appearances of usual interstitial pneumonia. High-power magnification (on the right) shows a focus of fibroblastic proliferation, close to an area of fibrosis within which a mild, non-specific, chronic inflammatory cell infiltrate can be observed. In the subpleural space, a typical honeycombing aspect can be recognized.
### Bronchoalveolar lavage[edit]
Bronchoalveolar lavage (BAL) is a well-tolerated diagnostic procedure in ILD.[8] BAL cytology analyses (differential cell counts) should be considered in the evaluation of patients with IPF at the discretion of the treating physician based on availability and experience at their institution. BAL may reveal alternative specific diagnoses: malignancy, infections, eosinophilic pneumonia, histiocytosis X, or alveolar proteinosis. In the evaluation of patients with suspected IPF, the most important application of BAL is in the exclusion of other diagnoses. Prominent lymphocytosis (>30%) generally allows excluding a diagnosis of IPF.[27]
### Pulmonary function tests[edit]
Spirometry classically reveals a reduction in the vital capacity (VC) with either a proportionate reduction in airflows, or increased airflows for the observed vital capacity. The latter finding reflects the increased lung stiffness (reduced lung compliance) associated with pulmonary fibrosis, which leads to increased lung elastic recoil.[28]
Measurement of static lung volumes using body plethysmography or other techniques typically reveals reduced lung volumes (restriction). This reflects the difficulty encountered in inflating the fibrotic lungs.
The diffusing capacity for carbon monoxide (DLCO) is invariably reduced in IPF and may be the only abnormality in mild or early disease. Its impairment underlies the propensity of patients with IPF to exhibit oxygen desaturation with exercise which can also be evaluated using the 6-minute walk test (6MWT).[3]
Terms such as 'mild', 'moderate', and 'severe' are sometimes used for staging disease and are commonly based on resting pulmonary function test measurements.[3] However, there is no clear consensus regarding the staging of IPF patients and what are the best criteria and values to use. Mild-to-moderate IPF has been characterized by the following functional criteria:[29][30][31][32]
* Forced vital capacity (FVC) of ≥50%
* DLCO of ≥30%
* 6MWT distance ≥150 meters.
## Treatment[edit]
The goals of treatment in IPF are essentially to reduce the symptoms, stop disease progression, prevent acute exacerbations, and prolong survival. Preventive care (e.g. vaccinations) and symptom-based treatment should be started early in every patient.[33]
### Oxygen therapy[edit]
In the 2011 IPF guidelines, oxygen therapy, or supplementary oxygen for home use, became a strong recommendation for use in those patients with significantly low oxygen levels at rest. Although oxygen therapy has not been shown to improve survival in IPF, some data indicate an improvement in exercise capacity.[3][34]
### Pulmonary rehabilitation[edit]
Fatigue and loss of muscular mass are common and disabling problems for patients with IPF. Pulmonary rehabilitation may alleviate the overt symptoms of IPF and improve functional status by stabilizing and/or reversing the extrapulmonary features of the disease.[35][36] The number of published studies on the role of pulmonary rehabilitation in idiopathic pulmonary fibrosis is small, but most of these studies have found significant short-term improvements in functional exercise tolerance, quality of life, and dyspnea on exertion.[37] Typical programs of rehabilitation include exercise training, nutritional modulation, occupational therapy, education and psychosocial counseling. In the late phase of disease, IPF patients tend to discontinue physical activity due to increasing dyspnea. Whenever possible, this should be discouraged.[citation needed]
### Medications[edit]
A number of treatments have been investigated in the past for IPF, including interferon gamma-1β,[38] bosentan,[39] ambrisentan,[40] and anticoagulants,[41] but these are no longer considered effective treatment options. Many of these earlier studies were based on the hypothesis that IPF is an inflammatory disorder.
#### Pirfenidone[edit]
A Cochrane review comparing pirfenidone with placebo, found a reduced risk of disease progression by 30%.[42] FVC or VC was also improved, even if a mild slowing in FVC decline could be demonstrated only in one of the two CAPACITY trials.[29] A third study, which was completed in 2014 found reduced decline in lung function and IPF disease progression.[31] The data from the ASCEND study were also pooled with data from the two CAPACITY studies in a pre-specified analysis which showed that pirfenidone reduced the risk of death by almost 50% over one year of treatment.[31]
#### N-acetylcysteine and triple therapy[edit]
N-Acetylcysteine (NAC) is a precursor to glutathione, an antioxidant. It has been hypothesized that treatment with high doses of NAC may repair an oxidant–antioxidant imbalance that occurs in the lung tissue of patients with IPF. In the first clinical trial of 180 patients (IFIGENIA), NAC was shown in previous study to reduce the decline in VC and DLCO over 12 months of follow-up when used in combination with prednisone and azathioprine (triple therapy).[43]
More recently, a large randomized, controlled trial (PANTHER-IPF) was undertaken by the National Institutes of Health (NIH) in the US to evaluate triple therapy and NAC monotherapy in IPF patients. This study found that the combination of prednisone, azathioprine, and NAC increased the risk of death and hospitalizations[44] and the NIH announced in 2012 that the triple-therapy arm of the PANTHER-IPF study had been terminated early.[45]
This study also evaluated NAC alone and the results for this arm of the study were published in May 2014 in the New England Journal of Medicine, concluding that "as compared with placebo, acetylcysteine offered no significant benefit with respect to the preservation of FVC in patients with idiopathic pulmonary fibrosis with mild-to-moderate impairment in lung function".[46]
#### Nintedanib[edit]
Nintedanib is a triple angiokinase inhibitor that targets receptor tyrosine kinases involved in the regulation of angiogenesis: fibroblast growth factor receptor (FGFR), platelet-derived growth factor receptor (PDGFR), and vascular endothelial growth factor receptor (VEGFR),[47] which have also been implicated in the pathogenesis of fibrosis and IPF. In both phase III trials, nintedanib reduced the decline in lung function by approximately 50% over one year.[32] It was approved by the US FDA in October 2014[48] and authorised in Europe in January 2015.[49]
### Lung transplantation[edit]
Lung transplantation may be suitable for those patients physically eligible to undergo a major transplant operation. In IPF patients, lung transplant has been shown to reduce the risk of death by 75% as compared with patients who remain on the waiting list.[50] Since the introduction of the lung allocation score (LAS), which prioritizes transplant candidates based on survival probability, IPF has become the most common indication for lung transplantation in the USA.[35]
Symptomatic patients with IPF younger than 65 years of age and with a body mass index (BMI) ≤26 kg/m2 should be referred for lung transplantation, but there are no clear data to guide the precise timing for LTx. Although controversial, the most recent data suggest that bilateral lung transplantation is superior to single lung transplantation in patients with IPF.[51] Five-year survival rates after lung transplantation in IPF are estimated at between 50 and 56%.[3][52][53]
### Palliative care[edit]
Palliative care focuses on reducing symptoms and improving the comfort of patients rather than treating the disease. This may include treatment of worsening symptoms with the use of chronic opioids for severe dyspnea and cough. Further, oxygen therapy may be useful for palliation of dyspnea in hypoxemic patients.
Palliative care also includes relief of physical and emotional suffering and psychosocial support for patients and caregivers.[3] With disease progression, patients may experience fear, anxiety and depression and psychological counseling should therefore be considered. In a recent study of outpatients with ILDs, including IPF, depression score, functional status (as assessed by walk test), as well as pulmonary function, all contributed to the severity of dyspnea.[54]
In selected cases of particularly severe dyspnea morphine could be considered. It can reduce dyspnea, anxiety and cough without significant decrease in oxygen saturation.[55]
### Follow-up[edit]
IPF is often misdiagnosed, at least until physiological and/or imaging data suggest the presence of an ILD leading to delay in accessing appropriate care.[35] Considering that IPF is a disease with a median survival of three years after diagnosis, early referral to a center with specific expertise should therefore be considered for any patient with suspected or known ILD. On the basis of the complex differential diagnostic, multidisciplinary discussion between pulmonologists, radiologists, and pathologists experienced in the diagnosis of ILD is of the utmost importance to an accurate diagnosis.[3]
After diagnosis of IPF, and the appropriate treatment choice according to symptoms and stage of disease, a close follow-up should be applied. Due to the high variable course of disease, the higher incidence of complications such as lung cancer (up to 25% of patients has been reported in IPF) a routine evaluation every 3 to 6 months, including spirometry (body plethysmography), diffusion capacity testing, chest X-rays, 6MWT, assessment of dyspnea, quality of life, oxygen requirement is mandatory.[citation needed]
In addition, the increasing awareness of complications and common concomitant conditions frequently associated with IPF requires a routinely evaluation of comorbidities, most of them simply reflecting concurrent diseases of aging, and medications with their interaction and side effects.
### Acute exacerbations[edit]
Acute exacerbations of IPF (AE-IPF) are defined as an unexplained worsening or development of dyspnea within 30 days with new radiological infiltrates at HRCT abnormality often superimposed on a background consistent with UIP pattern. The yearly incidence of AE-IPF is between 10 and 15% of all patients. The prognosis of AE-IPF is poor, with mortality ranging from 78% to 96%.[56] Other causes of AE-IPF such as pulmonary embolism, congestive heart failure, pneumothorax, or infection need to be excluded. Pulmonary infection have to be ruled out by endotracheal aspirate or BAL.
Many patients experiencing acute deterioration require intensive care treatment, particularly when respiratory failure is associated with hemodynamic instability, significant comorbidities or severe hypoxemia.[57] However, mortality during hospitalization is high.[56] Mechanical ventilation should be introduced only after carefully weighing the person's long-term prognosis and, whenever possible, the person's wishes. However, current guidelines discourage the use of mechanical ventilation in patients with respiratory failure secondary to IPF.[3]
## Prognosis[edit]
Comparison of the 5-year survival rate for IPF and common malignancies. Adapted from Bjoraker et al. 1998.[58]
The clinical course of IPF can be unpredictable.[3][58][59] IPF progression is associated with an estimated median survival time of 2 to 5 years following diagnosis.[1][3] The 5-year survival for IPF ranges between 20–40%,[59] a mortality rate higher than that of a number of malignancies, including colon cancer, multiple myeloma and bladder cancer.[58][59]
Recently a multidimensional index and staging system has been proposed to predict mortality in IPF.[60] The name of the index is GAP and is based on gender [G], age [A], and two lung physiology variables [P] (FVC and DLCO that are commonly measured in clinical practice to predict mortality in IPF. The highest stage of GAP (stage III) has been found to be associated with a 39% risk of mortality at 1 year.[60] This model has also been evaluated in IPF and other ILDs and shown good performance in predicting mortality in all main ILD subtypes. A modified ILD-GAP Index has been developed for application across ILD subtypes to provide disease-specific survival estimates.[61] In IPF patients, the overall mortality at 5 years rate is high but the annual rate of all-cause mortality in patients with mild to moderate lung impairment is relatively low. This is the reason why change in lung function (FVC) is usually measured in 1-year clinical trials of IPF treatments rather than survival.[62]
In addition to clinical and physiological parameters to predict how rapidly patients with IPF might progress, genetic and molecular features are also associated with IPF mortality. For example, it has been shown that IPF patients who have a specific genotype in the mucin MUC5B gene polymorphism (see above) experience slower decline in FVC and significantly improved survival.[63][64] Even if such data are interesting from a scientific point of view, the application in the clinical routine of a prognostic model based on specific genotypes is still not possible.
## Epidemiology[edit]
Although rare, IPF is the most common form of IIP.[7] The prevalence of IPF has been estimated between 14.0 and 42.7 per 100,000 persons based on a USA analysis of healthcare claims data, with variation depending on the case definitions used in this analyses.[9][65] IPF is more common in men than in women and is usually diagnosed in people over 50 years of age.[3]
The incidence of IPF is difficult to determine as uniform diagnostic criteria have not been applied consistently.[3][9] A recent study from the USA estimated the incidence of IPF to be between 6.8 and 16.3 per 100,000 persons. In the 27 European Union countries, a range of sources estimate an incidence of 4.6–7.4 people per 100,000 of the population,[66][67] suggesting that approximately 30,000–35,000 new patients will be diagnosed with IPF each year.[65][68]
A recent single-centre, retrospective, observational cohort study including incident patients diagnosed with ILD at Aarhus University Hospital (Denmark) between 2003 and 2009 revealed an incidence of 4.1 per 100,000 inhabitants/year for ILD. IPF was the most common diagnosis (28%) followed by connective tissue disease-related ILD (14%), hypersensitivity pneumonitis (7%) and non-specific interstitial pneumonia (NSIP) (7%). IPF incidence was 1.3 per 100,000 inhabitants/year.[69]
Due to a heterogeneous distribution of the disease across European countries, epidemiological data needs to be updated through a Europe-wide registry for ILD and IPF.
## Other animals[edit]
IPF has been recognized in several breeds of both dogs and cats,[70] and has been best characterized in West Highland White Terriers.[71] Veterinary patients with the condition share many of the same clinical signs as their human counterparts, including progressive exercise intolerance, increased respiratory rate, and eventual respiratory distress.[72] Prognosis is generally poor.
## Research[edit]
A number of agents are currently being investigated in Phase II clinical trials for IPF, including the monoclonal antibodies simtuzumab, tralokinumab, lebrikizumab and FG-3019, a lysophosphatidic acid receptor antagonist (BMS-986020). A Phase II study of STX-100 is also ongoing.[73] These molecules are directed against several growth factors and cytokines that are known to play a role in the proliferation, activation, differentiation or inappropriate survival of fibroblasts.[citation needed]
mir-29 microRNA precursor investigations in mice have produced reversal of induced IPF. MRG-201 is currently being tested as-of 2016, but not in IPF patients yet, and no human trials for IPF use have been scheduled as of January 2016[update].[74]
Stem cell therapies for IPF are an area of research.[75][76]
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## External links[edit]
Classification
D
* ICD-10: J84.112
* ICD-9-CM: 516.31
* OMIM: 178500
* MeSH: D011658
* DiseasesDB: 4815
External resources
* MedlinePlus: 000069
* eMedicine: radio/873
* Patient UK: Idiopathic pulmonary fibrosis
Wikimedia Commons has media related to Idiopathic pulmonary fibrosis.
* Idiopathic pulmonary fibrosis at Curlie
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Baritosis
Bauxite fibrosis
Berylliosis
Caplan's syndrome
Chalicosis
Coalworker's pneumoconiosis
Siderosis
Silicosis
Talcosis
Byssinosis
Hypersensitivity pneumonitis
Bagassosis
Bird fancier's lung
Farmer's lung
Lycoperdonosis
Other
* ARDS
* Combined pulmonary fibrosis and emphysema
* Pulmonary edema
* Löffler's syndrome/Eosinophilic pneumonia
* Respiratory hypersensitivity
* Allergic bronchopulmonary aspergillosis
* Hamman-Rich syndrome
* Idiopathic pulmonary fibrosis
* Sarcoidosis
* Vaping-associated pulmonary injury
Obstructive / Restrictive
Pneumonia/
pneumonitis
By pathogen
* Viral
* Bacterial
* Pneumococcal
* Klebsiella
* Atypical bacterial
* Mycoplasma
* Legionnaires' disease
* Chlamydiae
* Fungal
* Pneumocystis
* Parasitic
* noninfectious
* Chemical/Mendelson's syndrome
* Aspiration/Lipid
By vector/route
* Community-acquired
* Healthcare-associated
* Hospital-acquired
By distribution
* Broncho-
* Lobar
IIP
* UIP
* DIP
* BOOP-COP
* NSIP
* RB
Other
* Atelectasis
* circulatory
* Pulmonary hypertension
* Pulmonary embolism
* Lung abscess
Pleural cavity/
mediastinum
Pleural disease
* Pleuritis/pleurisy
* Pneumothorax/Hemopneumothorax
Pleural effusion
Hemothorax
Hydrothorax
Chylothorax
Empyema/pyothorax
Malignant
Fibrothorax
Mediastinal disease
* Mediastinitis
* Mediastinal emphysema
Other/general
* Respiratory failure
* Influenza
* Common cold
* SARS
* Coronavirus disease 2019
* Idiopathic pulmonary haemosiderosis
* Pulmonary alveolar proteinosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Idiopathic pulmonary fibrosis
|
c1800706
| 26,391 |
wikipedia
|
https://en.wikipedia.org/wiki/Idiopathic_pulmonary_fibrosis
| 2021-01-18T18:29:27 |
{"gard": ["8609"], "mesh": ["D054990"], "umls": ["C1800706"], "wikidata": ["Q2290446"]}
|
WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).
## Epidemiology
WHIM syndrome is extremely rare, with 65 cases reported worldwide to date. The incidence in France between 1990 and 2006 has been estimated at less than 1/ 4,000,000 births.
## Clinical description
WHIM syndrome has a heterogeneous clinical picture. Onset usually occurs during early childhood with recurrent bacterial infections, including pharyngitis, sinusitis, otitis, meningitis and pneumonia, which respond well to antibiotics. The response to vaccination is poor; when measured by the titer of specific antibodies, a low response is initially observed followed by a rapid disappearance of specific antibodies. More than 80% of the patients develop, by the age of 30 years old, widespread HPV-induced warts that are often difficult to treat, generally starting on hands and feet. 25% develop anogenital condylomata acuminata which may progress to intractable multifocal dysplastic HPV-induced lesions and invasive genital cancer. Tetralogy of Fallot (see this term) has been reported in about 1/4 of cases.
## Etiology
WHIM syndrome is caused by heterozygous gain of function mutations in the CXCR4 gene (2q21) encoding a chemokine receptor expressed on mature leukocytes and involved in signal transduction pathways controlling bone marrow cell adhesion and homing, myelopoiesis and lymphopoiesis. Mutations result in prolonged activation of the receptor that leads to retention of neutrophils and other leukocytes in the bone marrow.
## Diagnostic methods
Diagnosis is based on the evaluation of clinical signs in addition to the following laboratory findings: cell blood counts usually showing (except in case of acute infection) neutropenia, lymphopenia, and monocytopenia resulting in severe panleukopenia, with normal hemoglobin levels and platelets; serum immunoglobulins G, A and M levels showing mild hypogammaglobulinemia in almost all cases; and bone marrow aspirates demonstrating myelokathexis. Genetic analysis of CXRC4 confirms diagnosis.
## Differential diagnosis
Differential diagnosis of diseases with myelokathexis include autosomal dominant severe congenital neutropenia, autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, epidermodysplasia verruciformis, and monocytopenia with susceptibility to infections (see these terms).
## Antenatal diagnosis
Prenatal testing by amniocentesis or chorionic villus sampling is possible in case of family history.
## Genetic counseling
WHIM syndrome is usually transmitted as an autosomal dominant trait. Autosomal recessive or sporadic cases have also been described.
## Management and treatment
Current treatment is symptomatic. Immunoglobulin replacement therapy and prophylactic antibiotic treatment may prevent infections. Treatment with granulocyte-colony stimulating factor (GCSF) may also be used. Standard methods (cauterization, laser therapy) or more aggressive treatments (surgical removal, Interferon, cidofovir, imiquimod) appear mostly ineffective for the management of HPV induced lesions. A clinical trial using CXCR4 antagonist (Plerixafor) is currently ongoing in the USA, and soon in Europe. Case reports suggest that the HPV vaccine may limit the occurrence of HPV infection.
## Prognosis
WHIM affected individuals may live well into adulthood. Major risk factors include intractable multifocal dysplastic HPV-induced lesions and invasive genital cancer, and liver failure. By the age of 40, the cancer risk is of about 30%.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
WHIM syndrome
|
c0472817
| 26,392 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=51636
| 2021-01-23T19:12:38 |
{"gard": ["9297"], "mesh": ["C536697"], "omim": ["193670"], "umls": ["C0472817"], "icd-10": ["D81.8"], "synonyms": ["WILM", "Warts-hypogammaglobulinemia-infections-myelokathexis syndrome", "Warts-infections-leukopenia-myelokatexis syndrome"]}
|
El-Shanti et al. (2003) reported 5 individuals from 2 unrelated families from Jordan with alopecia universalis congenita, gonadal dysgenesis, and laryngomalacia that persisted beyond infancy. The proband from the first family was a 9.5-year-old girl who was noted to have alopecia universalis at birth. She had ambiguous genitalia with labial adhesions with an enlarged clitoris, and was thus assigned a female gender. At 2 months of age she was diagnosed with a urogenital sinus and vaginouretheral fistula. A uterus and 1 fallopian tube were identified. She had small stature with low weight and head circumference more than 2 SD below the mean. At 8 years, her full-scale IQ was 81. At 9 years she was diagnosed with epilepsy. Peripheral blood karyotype was 46 XY, with positive SRY. A 7-year-old first cousin of the proband weighed 2.5 kg at term and was noted to have alopecia universalis. He had a 1-cm phallus with chordee and an empty scrotum, and was thus assigned a male gender. He had bilateral cryptorchidism and at 3 years a left testis was fixed to the scrotal wall and the right testis was removed. Growth had been satisfactory with height, weight, and head circumference at the 10th percentile. Peripheral blood karyotype was 46 XY, with positive SRY. An unrelated family reported by El-Shanti et al. (2003) had 3 affected children. The oldest died at 7 years during take-down of a tracheostomy. She was noted to have alopecia universalis at birth. She had ambiguous genitalia with labial adhesions and an enlarged clitoris, and thus female gender was assigned. Peripheral blood karyotype eventually showed 46 XY, with positive SRY. She had laryngomalacia and growth delay, with height, weight, and head circumference more than 2 SD below the mean. She was diagnosed with growth hormone deficiency and started receiving replacement therapy to which she responded well. No uterus or fallopian tubes were visualized by pelvic ultrasound at 1 year of age. At age 6.5 years she developed severe pneumonia and required artificial ventilation followed by difficulty in extubation. She required a tracheostomy, which was followed up regularly without major complications. At the age of 7 years, she had gallbladder surgery for cholelithiasis. Intellect was intact, and MRI of brain was normal. She had lifelong asymptomatic thrombocytopenia with a platelet count persistently less than 100,000. The second girl in this family died at 1 week of age from complications of intestinal obstruction surgery. She was a full-term product of an uneventful pregnancy, labor and delivery, and was noted to have alopecia universalis at birth. She had inspiratory stridor attributed to laryngomalacia, and ambiguity of the sexual organs was noted. She also had intestinal obstruction designated intraoperatively as ileal atresia. The third affected child in this family was 20 months of age at time of report. She had a birth weight of 3.1 kg after an uncomplicated full-term pregnancy. She had scalp hair at birth but it fell out gradually at the age of 1 month. At 20 months, she had sparse, thin blond scalp hair. She continued to have faint eyebrows and sparse eyelashes. She had ambiguous genitalia with labial adhesions and enlarged clitoris, and thus female gender was assigned. Inspiratory stridor was noticed only during excessive crying or during an upper respiratory tract infection. Her growth had been normal. Peripheral blood karyotype was 46 XY, with positive SRY. Thus, all patients in these 2 pedigrees had alopecia universalis congenita, laryngomalacia, and gonadal dysgenesis with an XY karyotype and SRY positivity. Some had short stature and growth hormone deficiency and the majority had ambiguous female genitalia. El-Shanti et al. (2003) concluded that the patients had a novel autosomal recessive phenotype.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
ALOPECIA UNIVERSALIS CONGENITA, XY GONADAL DYSGENESIS, AND LARYNGOMALACIA
|
c1837946
| 26,393 |
omim
|
https://www.omim.org/entry/608509
| 2019-09-22T16:07:41 |
{"mesh": ["C563920"], "omim": ["608509"]}
|
Papillary eccrine adenoma
Other namesTubular apocrine adenoma[citation needed]
SpecialtyDermatology
Papillary eccrine adenoma is a cutaneous condition characterized by an uncommon benign sweat gland neoplasm that presents as a dermal nodule located primarily on the extremities of black patients.[1]:668[2][3][4]
## See also[edit]
* Syringadenoma papilliferum
* Skin lesion
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
2. ^ Laxmisha C, Thappa DM, Jayanthi S (2004). "Papillary eccrine adenoma". Indian J Dermatol Venereol Leprol. 70 (6): 370–2. PMID 17642667.
3. ^ Blasini W, Hu S, Gugic D, Vincek V (2007). "Papillary eccrine adenoma in association with cutaneous horn". Am J Clin Dermatol. 8 (3): 179–82. doi:10.2165/00128071-200708030-00005. PMID 17492846.
4. ^ Guccion JG, Patterson RH, Nayar R, Saini NB (1998). "Papillary eccrine adenoma: an ultrastructural and immunohistochemical study". Ultrastruct Pathol. 22 (3): 263–9. doi:10.3109/01913129809033478. PMID 9793207.
## Further reading[edit]
* Jackson EM, Cook J (December 2002). "Mohs micrographic surgery of a papillary eccrine adenoma". Dermatol Surg. 28 (12): 1168–72. doi:10.1046/j.1524-4725.2002.02118.x. PMID 12472500.
* v
* t
* e
Cancers of skin and associated structures
Glands
Sweat gland
Eccrine
* Papillary eccrine adenoma
* Eccrine carcinoma
* Eccrine nevus
* Syringofibroadenoma
* Spiradenoma
Apocrine
* Cylindroma
* Dermal cylindroma
* Syringocystadenoma papilliferum
* Papillary hidradenoma
* Hidrocystoma
* Apocrine gland carcinoma
* Apocrine nevus
Eccrine/apocrine
* Syringoma
* Hidradenoma or Acrospiroma/Hidradenocarcinoma
* Ceruminous adenoma
Sebaceous gland
* Nevus sebaceous
* Muir–Torre syndrome
* Sebaceous carcinoma
* Sebaceous adenoma
* Sebaceoma
* Sebaceous nevus syndrome
* Sebaceous hyperplasia
* Mantleoma
Hair
* Pilomatricoma/Malignant pilomatricoma
* Trichoepithelioma
* Multiple familial trichoepithelioma
* Solitary trichoepithelioma
* Desmoplastic trichoepithelioma
* Generalized trichoepithelioma
* Trichodiscoma
* Trichoblastoma
* Fibrofolliculoma
* Trichilemmoma
* Trichilemmal carcinoma
* Proliferating trichilemmal cyst
* Giant solitary trichoepithelioma
* Trichoadenoma
* Trichofolliculoma
* Dilated pore
* Isthmicoma
* Fibrofolliculoma
* Perifollicular fibroma
* Birt–Hogg–Dubé syndrome
Hamartoma
* Basaloid follicular hamartoma
* Folliculosebaceous cystic hamartoma
* Folliculosebaceous-apocrine hamartoma
Nails
* Neoplasms of the nailbed
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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Papillary eccrine adenoma
|
c0334350
| 26,394 |
wikipedia
|
https://en.wikipedia.org/wiki/Papillary_eccrine_adenoma
| 2021-01-18T18:31:12 |
{"gard": ["10463"], "umls": ["C0334350"], "wikidata": ["Q7132983"]}
|
Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Ulnar hypoplasia-split foot syndrome
|
c1839123
| 26,395 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1122
| 2021-01-23T17:46:36 |
{"gard": ["5400"], "mesh": ["C536936"], "omim": ["314360"], "umls": ["C1839123"], "icd-10": ["Q73.8"], "synonyms": ["Ulnar hypoplasia-lobster-claw deformity of feet syndrome", "Van den Berghe-Dequecker syndrome"]}
|
A number sign (#) is used with this entry because of evidence that cerebellar ataxia, mental retardation, and dysequilibrium syndrome-2 (CAMRQ2) is caused by homozygous mutation in the WDR81 gene (614218) on chromosome 17p.
Description
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).
For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (224050).
Clinical Features
Turkmen et al. (2006) reported a consanguineous Turkish family of Kurdish origin in which 5 sibs had cerebellar hypoplasia, mental retardation, and an inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. An affected brother and sister were bipedal but had similar neurologic features and a lesser degree of cognitive impairment. One of the quadrupedal sibs died at age 26 years of unknown causes. Detailed examination of the 28-year-old male proband showed moderate thoracic kyphosis, short stature, cerebellar ataxia, dysarthria, dysmetria, and dysdiadochokinesia without pyramidal signs. He preferred to walk on his extremities with entire hands and feet touching the ground (palmigrade walking) and fully stretched knee and elbow joints. All 4 affected individuals moved about freely and participated most of the time in the family's daily work in the fields. They could understand and communicate basic words, but cognitive abilities were severely impaired. Brain MRI of affected individuals showed hypogenesis and midline clefting of the cerebellar vermis. In all cases the superior half of the vermis was formed, whereas the inferior section was not. The dentate nucleus was atrophic. Other findings included generalized brain atrophy and mild hypoplasia of the corpus callosum. Cortical dysplasia, lissencephaly, and gray matter heterotopia were not observed. Individuals who demonstrated quadrupedal locomotion did so effectively and without discomfort. As they moved, their knee and elbow joints showed almost no flexion, and their hands touched the ground mainly on their palms, distinct from knuckle walking of great apes.
Tan (2006) provided a report of the same family. He noted that the affected individuals demonstrated diagonal walking seen in many animals, such as dogs, horses, and chimpanzees. Tan (2006) suggested that this syndrome may represent a live model for human evolution from quadrupedal to bipedal gait.
Gulsuner et al. (2011) reported detailed neuroradiologic studies of the patients reported by Turkmen et al. (2006). Brain MRI of affected individuals showed morphologic abnormalities in the cerebellum and corpus callosum, in particular atrophy of superior, middle, and inferior peduncles of the cerebellum. Structural MRI showed additional morphometric abnormalities in several cortical areas, including the corpus callosum, precentral gyrus, and several Brodmann areas.
Garcias and Martino Roth (2007) reported 4 Brazilian sibs, 2 males and 2 females, born of consanguineous parents, with a clinically homogeneous syndrome in which the predominant characteristic was a quadrupedal gait. All had a normal neonatal period but did not learn to crawl normally on 4 limbs. When they learned to 'walk,' they assumed a quadrupedal position leaning on the hands and feet with erect lower limbs. Radiographic exams showed no osteoarticular changes that could justify the quadrupedal gait. All sibs had mental retardation with absent speech, short stature, coarse facial features, hirsutism, strabismus, wide and short nape of the neck, and small hands and feet. Secondary sexual characteristics were normal, except that the males had small penis. One sib had convulsions around puberty.
Komara et al. (2016) reported 2 sisters, born of consanguineous parents of Yemeni descent, with CAMRQ2. The girls were 3 and 7 years old, respectively. Both had global developmental delay followed by evidence of gait ataxia; 1 sister had intention tremor. Brain imaging of both girls showed cerebellar hypoplasia. The younger sister had profound sensorineural hearing loss, most likely due to a mutation in another gene (see MOLECULAR GENETICS).
### Etiology of Quadrupedal Locomotion
Ozcelik et al. (2008) maintained that quadrupedal locomotion in the affected individuals results from abnormal function of brain structures that are critical for gait. Humphrey et al. (2008) concluded that the tendency toward quadrupedal locomotion in affected individuals is an adaptive and effective compensation for problems with balance caused by congenital cerebellar hypoplasia. Thus, the unusual gait could be attributed to the local cultural environment. Herz et al. (2008) also concluded that quadrupedal locomotion is more likely an adaptation to severe truncal ataxia, resulting from a combination of uneven, rough surfaces in rural areas, imitation of affected sibs, and lack of supportive therapy. Ozcelik et al. (2008) responded and defended their position.
Inheritance
The transmission pattern of CAMRQ2 in the family reported by Turkmen et al. (2006) was consistent with autosomal recessive inheritance.
Mapping
By genomewide linkage analysis of the affected Turkish family, Turkmen et al. (2006) identified a candidate disease locus on chromosome 17p between markers D17S1866 and D17S690 (peak multipoint lod score of 5.37 was calculated between D17S831 and D17S1298).
Ozcelik et al. (2008) confirmed linkage to chromosome 17p13 in the family previously reported by Turkmen et al. (2006). They reported 1 unrelated Turkish family that showed no evidence of linkage to 17p13 and 9p24.
Molecular Genetics
In affected members of a consanguineous Turkish family with autosomal recessive cerebellar ataxia, mental retardation, and dysequilibrium syndrome-2 (Turkmen et al., 2006), Gulsuner et al. (2011) identified a homozygous mutation in the WDR81 gene (P856L; 614218.0001). Homozygosity for the mutation segregated with the phenotype. The mutation occurred in a highly conserved residue, and was not found in 549 controls. The mutation was found by targeted sequencing of the candidate disease region identified by linkage analysis. WDR81 was expressed in the cerebellum and corpus callosum.
Alazami et al. (2015) identified a homozygous missense variant in the WDR81 gene (G282E) in a patient from a consanguineous family with CAMRQ2. The phenotype was noted to be neonatal death due to severe brain malformation, including hydranencephaly and severe cerebellar hypoplasia. Additional clinical details and family history were not provided. The proband was part of a large cohort of 143 multiplex consanguineous families with various neurodevelopmental disorders who underwent whole-exome sequencing. Functional studies of the WDR81 variant were not performed.
In 2 sisters, born of consanguineous parents of Yemeni origin, with CAMRQ2, Komara et al. (2016) identified a homozygous truncating mutation in the WDR81 gene (R1333X; 614218.0002). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed. One of the patients, who also had hearing loss, had a homozygous missense variant (R158W) in the LHFPL5 gene (609427), which is responsible for autosomal recessive deafness-67 (DFNB67; 610265).
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature HEAD & NECK Head \- Head is flexed forward Face \- Coarse facial features Eyes \- Strabismus Neck \- Wide and short nape of the neck SKELETAL Spine \- Thoracic kyphosis \- Thoracic scoliosis \- Skull is flexed forward on the spine Hands \- Small hands Feet \- Small feet SKIN, NAILS, & HAIR Hair \- Hirsutism NEUROLOGIC Central Nervous System \- Mental retardation, severe \- Cerebellar ataxia \- Delayed psychomotor development \- Poor language development \- Absence of language development \- Quadrupedal gait (palm of hands, legs straight) with diagonal walking \- Truncal ataxia, severe \- Tremor \- Dysmetria \- Dysarthria \- Dysdiadochokinesis \- Hyporeflexia \- Cerebellar hypoplasia \- Aplasia of the inferior half of the cerebellar vermis \- Atrophy of the dentate nucleus \- Generalized cerebral atrophy \- Hypoplasia of the corpus callosum \- Cerebellar atrophy MISCELLANEOUS \- Onset in infancy MOLECULAR BASIS \- Caused by mutation in the WD repeat-containing protein 81 gene (WDR81, 614218.0001 ) ▲ 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2
|
c0394006
| 26,396 |
omim
|
https://www.omim.org/entry/610185
| 2019-09-22T16:04:59 |
{"doid": ["0050997"], "omim": ["610185"], "orphanet": ["1766"], "synonyms": ["Alternative titles", "CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 2"]}
|
Micropsia
The perception a person can have due to symptoms of pronounced micropsia. See § Comparison with Alice's Adventures in Wonderland, below. Image from that same novel.
SpecialtyOphthalmology
Micropsia is a condition affecting human visual perception in which objects are perceived to be smaller than they actually are. Micropsia can be caused by optical factors (such as wearing glasses), by distortion of images in the eye (such as optically, via swelling of the cornea or from changes in the shape of the retina such as from retinal edema, macular degeneration, or central serous retinopathy), by changes in the brain (such as from traumatic brain injury, epilepsy, migraines, prescription drugs, and illicit drugs), and from psychological factors. Dissociative phenomena are linked with micropsia, which may be the result of brain-lateralization disturbance.[1]
Micropsia is also commonly reported when the eyes are fixating at (convergence), or focussing at (accommodation), a distance closer than that of the object[2] in accord with Emmert's law. Specific types of micropsia include hemimicropsia, a form of micropsia that is localized to one half of the visual field and can be caused by brain lesions in one of the cerebral hemispheres.
Related visual distortion conditions include macropsia, a less common condition with the reverse effect, and Alice in Wonderland Syndrome, a condition that has symptoms that can include both micropsia and macropsia.
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 2.1 Definition
* 2.2 Differential diagnosis
* 2.2.1 Migraines
* 2.2.2 Seizures
* 2.2.3 Drug use
* 2.2.4 Psychological factors
* 2.2.5 Epstein-Barr virus infection
* 2.2.6 Retinal edema
* 2.2.7 Macular degeneration
* 2.2.8 Central serous chorioretinopathy
* 2.2.9 Brain lesions
* 3 Treatment
* 4 Epidemiology
* 5 Society and culture
* 5.1 Comparison with Alice's Adventures in Wonderland
* 5.2 Comparison with Gulliver's Travels
* 6 Research
* 7 See also
* 8 References
* 9 External links
## Signs and symptoms[edit]
Micropsia causes affected individuals to perceive objects as being smaller or more distant than they actually are.[3]
The majority of individuals with micropsia are aware that their perceptions do not mimic reality. Many can imagine the actual sizes of objects and distances between objects. It is common for patients suffering from micropsia to be able to indicate true size and distance despite their inability to perceive objects as they actually are. One specific patient was able to indicate the dimensions of specific objects with her hands. She was also able to estimate the distances between two objects and between an object and herself. She succeeded in indicating horizontal, vertical, and 45 degree positions and did not find it difficult to search for an object in a cluttered drawer, indicating that her figure-ground discrimination was intact despite suffering from micropsia.[3]
Individuals experiencing hemimicropsia often complain that objects in their left or right visual field appear to be shrunken or compressed. They may also have difficulty appreciating the symmetry of pictures. When drawing, patients often have a tendency to compensate for their perceptual asymmetry by drawing the left or right half of objects slightly larger than the other. In a case of one person with hemimicropsia asked to draw six symmetrical objects, the size of the picture on the left half was on average 16% larger than the corresponding right half.[4]
## Diagnosis[edit]
Amsler grid as it might appear to someone with micropsia as a result of age-related macular degeneration.
EEG testing can diagnose patients with medial temporal lobe epilepsy. Epileptiform abnormalities including spikes and sharp waves in the medial temporal lobe of the brain can diagnose this condition, which can in turn be the cause of an epileptic patient's micropsia.[5]
The Amsler grid test can be used to diagnose macular degeneration. For this test, patients are asked to look at a grid, and distortions or blank spots in the patient's central field of vision can be detected. A positive diagnosis of macular degeneration may account for a patient's micropsia.[6]
A controlled size comparison task can be employed to evaluate objectively whether a person is experiencing hemimicropsia. For each trial, a pair of horizontally aligned circles is presented on a computer screen, and the person being tested is asked to decide which circle is larger. After a set of trials, the overall pattern of responses should display a normal distance effect where the more similar the two circles, the higher the number of errors. This test is able to effectively diagnose micropsia and confirm which hemisphere is being distorted.[4]
Due to the large range of causes that lead to micropsia, diagnosis varies among cases. Computed tomography (CT) and magnetic resonance imaging (MRI) may find lesions and hypodense areas in the temporal and occipital lobes.[4] MRI and CT techniques are able to rule out lesions as the cause for micropsia, but are not sufficient to diagnose the most common causes.[citation needed]
### Definition[edit]
Micropsia is the most common visual distortion, or dysmetropsia.[7] It is categorized as an illusion in the positive phenomena grouping of abnormal visual distortions.[8]
* Convergence-accommodative micropsia is a physiologic phenomenon in which an object appears smaller as it approaches the subject.[9]
* Psychogenic micropsia can present itself in individuals with certain psychiatric disorders.[9]
* Retinal micropsia is characterized by an increase in the distance between retinal photoreceptors and is associated with decreased visual acuity.[9]
* Cerebral micropsia is a rare form of micropsia that can arise in children with chronic migraines.[9]
* Hemimicropsia is a type of cerebral micropsia[7] that occurs within one half of the visual field.[10]
### Differential diagnosis[edit]
Of all of the visual distortions, micropsia has the largest variety of causes.[7]
#### Migraines[edit]
Micropsia can occur during the aura phase of a migraine attack, a phase that often precedes the onset of a headache and is commonly characterized by visual disturbances. Micropsia, along with hemianopsia, quadrantopsia, scotoma, phosphene, teicopsia, metamorphopsia, macropsia, teleopsia, diplopia, dischromatopsia, and hallucination disturbances, is a type of aura that occurs immediately before or during the onset of a migraine headache.[11] The symptom usually occurs less than thirty minutes before the migraine headache begins and lasts for five to twenty minutes. Only 10-20% of children with migraine headaches experience auras. Visual auras such as micropsia are most common in children with migraines.[12]
#### Seizures[edit]
The most frequent neurological origin of micropsia is a result of temporal lobe seizures. These seizures affect the entire visual field of the patient. More rarely, micropsia can be part of purely visual seizures. This in turn only affects one half of the visual field and is accompanied by other cerebral visual disturbances. The most common cause of seizures which produce perceptual disturbances such as micropsia and macropsia is medial temporal lobe epilepsy in which the seizures originate in the amygdala-hippocampus complex. Micropsia often occurs as an aura signalling a seizure in patients with medial temporal lobe epilepsy.[13] Most auras last for a very short period, ranging from a few seconds to a few minutes.[14]
#### Drug use[edit]
Micropsia can result from the action of mescaline and other hallucinogenic drugs.[4] Although drug-induced changes in perception usually subside as the chemical leaves the body, long-term cocaine use can result in the chronic residual effect of micropsia.[15] Micropsia can be a symptom of Hallucinogen Persisting Perception Disorder, or HPPD, in which a person can experience hallucinogenic flashbacks long after ingesting a hallucinogen. A majority of these flashbacks are visual distortions which include micropsia, and 15-80% of hallucinogen users may experience these flashbacks.[16] Micropsia can also be a rare side effect of zolpidem, a prescription medication used to temporarily treat insomnia.[17]
#### Psychological factors[edit]
Psychiatric patients may experience micropsia in an attempt to distance themselves from situations involving conflict.[18] Micropsia may also be a symptom of psychological conditions in which patients visualize people as small objects as a way to control others in response to their insecurities and feelings of weakness. In some adults who experienced loneliness as children, micropsia may arise as a mirror of prior feelings of separation from people and objects.[19]
#### Epstein-Barr virus infection[edit]
Micropsia can be caused by swelling of the cornea due to infection by the Epstein-Barr virus (EBV)[20] and can therefore present as an initial symptom of EBV mononucleosis, a disease caused by Epstein-Barr virus infection.
#### Retinal edema[edit]
An MRI image of a brain tumor occupying the left temporal and parieto-occipital regions of the brain.
Micropsia can result from retinal edema causing a dislocation of the receptor cells. Photoreceptor misalignment seems to occur following the surgical re-attachment for macula-off rhegmatogenous retinal detachment. After surgery, patients may experience micropsia as a result of larger photoreceptor separation[21] by edematous fluid.[22]
#### Macular degeneration[edit]
Macular degeneration typically produces micropsia due to the swelling or bulging of the macula, an oval-shaped yellow spot near the center of the retina in the human eye. The main factors leading to this disease are age, smoking, heredity, and obesity. Some studies show that consuming spinach or collard greens five times a week cuts the risk of macular degeneration by 43%.[23]
#### Central serous chorioretinopathy[edit]
CSCR is a disease in which a serous detachment of the neurosensory retina occurs over an area of leakage from the choriocapillaris through the retinal pigment epithelium (RPE). The most common symptoms that result from the disease are a deterioration of visual acuity and micropsia.[24]
#### Brain lesions[edit]
Micropsia is sometimes seen in individuals with brain infarctions. The damaged side of the brain conveys size information that contradicts the size information conveyed by the other side of the brain. This causes a contradiction to arise between the true perception of an object's size and the smaller perception of the object, and micropsic bias ultimately causes the individual to experience micropsia. Lesions affecting other parts of the extracerebral visual pathways can also cause micropsia.[3]
## Treatment[edit]
Treatment varies for micropsia due to the large number of different causes for the condition.[citation needed]
Treatments involving the occlusion of one eye and the use of a prism fitted over an eyeglass lens have both been shown to provide relief from micropsia.[25]
Micropsia that is induced by macular degeneration can be treated in several ways. A study called AREDS (age-related eye disease study) determined that taking dietary supplements containing high-dose antioxidants and zinc produced significant benefits with regard to disease progression. This study was the first ever to prove that dietary supplements can alter the natural progression and complications of a disease state.[26] Laser treatments also look promising but are still in clinical stages.[26]
## Epidemiology[edit]
Episodes of micropsia or macropsia occur in 9% of adolescents.[27]
10-35% of migraine sufferers experience auras, with 88% of these patients experiencing both visual auras (which include micropsia) and neurological auras.[28]
Micropsia seems to be slightly more common in boys than in girls among children who experience migraines.[29]
Approximately 80% of temporal lobe seizures produce auras that may lead to micropsia or macropsia. They are a common feature of simple partial seizures and usually precede complex partial seizures of temporal lobe origin.[14]
Central Serous Chorioretinopathy (CSCR) which can produce micropsia predominantly affects persons between the ages of 20 and 50. Women appear to be affected more than men by a factor of almost 3 to 1.[24]
## Society and culture[edit]
### Comparison with Alice's Adventures in Wonderland[edit]
Alice in Wonderland Syndrome, a neurological condition associated with both micropsia and macropsia, is named after Lewis Carroll's famous 19th century novel Alice's Adventures in Wonderland. In the story, the title character, Alice, experiences numerous situations similar to those of micropsia and macropsia. Speculation has arisen that Carroll may have written the story using his own direct experience with episodes of micropsia resulting from the numerous migraines he was known to suffer from. It has also been suggested that Carroll may have suffered from temporal lobe epilepsy.[citation needed]
### Comparison with Gulliver's Travels[edit]
Micropsia has also been related to Jonathan Swift's novel Gulliver's Travels. It has been referred to as "Lilliput sight" and "Lilliputian hallucination," a term coined by British physician Raoul Leroy in 1909,[30] based on the small people that inhabited the island of Lilliput in the novel.[31]
## Research[edit]
Current experimental evidence focuses on the involvement of the occipitotemporal pathway in both the perceptual equivalence of objects across translations of retinal position and also across size modifications.[4] Recent evidence points to this pathway as a mediator for an individual's perception of size. Even further, numerous cases suggest that size perception may be dissociated from other aspects of visual perception such as color and movement. However, more research is called for to correctly relate the condition to defined physiological conditions.[citation needed]
Current research is being done on macular degeneration which could help prevent cases of micropsia. A variety of drugs that block vascular endothelial growth factors (VEGFs) are being evaluated as a treatment option.[32] These treatments for the first time have produced actual improvements in vision, rather than simply delaying or arresting the continued loss of vision characteristic of macular degeneration. A number of surgical treatments are also being investigated for macular degeneration lesions that may not qualify for laser treatment, including macular translocation to a healthier area of the eye, displacement of submacular blood using gas, and removing membranes by surgery.[26]
## See also[edit]
* Alice in Wonderland syndrome
* Convergence micropsia
* Dysmetropsia
* Macropsia
## References[edit]
1. ^ Lipsanen T, Korkeila J, Saarijärvi S, Lauerma H (March 2003). "Micropsia and dissociative disorders". Journal of Neuro-Ophthalmology. 23 (1): 106–7. doi:10.1097/00041327-200303000-00060. PMID 12616098.
2. ^ Pinker S (1997). How the mind works. New York: W. W. Norton & Company.
3. ^ a b c Ceriani F, Gentileschi V, Muggia S, Spinnler H (February 1998). "Seeing objects smaller than they are: micropsia following right temporo-parietal infarction". Cortex; A Journal Devoted to the Study of the Nervous System and Behavior. 34 (1): 131–8. doi:10.1016/S0010-9452(08)70742-1. PMID 9533999.
4. ^ a b c d e Cohen L, Gray F, Meyrignac C, Dehaene S, Degos JD (January 1994). "Selective deficit of visual size perception: two cases of hemimicropsia". Journal of Neurology, Neurosurgery, and Psychiatry. 57 (1): 73–8. doi:10.1136/jnnp.57.1.73. PMC 485042. PMID 8301309.
5. ^ EEG Archived 2009-11-23 at the Wayback Machine
6. ^ Roberts DL, Mogk LG (2006). The First Year:Age-Related Macular Degeneration: An Essential Guide for the Newly Diagnosed. Marlowe & Company. ISBN 978-1-56924-286-5.
7. ^ a b c Kerrison JB, Miller N, Walsh F, Newman NJ, Hoyt WG, Biousse V (2008). Walsh and Hoyt's clinical neuro-ophthalmology: the essentials. Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins. pp. 282. ISBN 978-0-7817-6379-0.
8. ^ Cummings JL, Mega MS (2003). Neuropsychiatry and behavioral neuroscience. Oxford University Press US. p. 414. ISBN 978-0-19-513858-0.
9. ^ a b c d Levin LA, Arnold AC (2005). Neuro-ophthalmology:the practical guide. New York: Thieme Medical Publishers, Inc. p. 464. ISBN 978-1-58890-183-5.
10. ^ Hofstetter HW (2000). Dictionary of visual science and related clinical terms (5 ed.). Elsevier Health Sciences. p. 630. ISBN 978-0-7506-7131-6.
11. ^ Lendvai D, Crenca R, Verdecchia P, Redondi A, Turri E, Pittella S, Anania C (Mar–Apr 1999). "Migraine with visual aura in developing age: visual disorders". European Review for Medical and Pharmacological Sciences. 3 (2): 71–4. PMID 10827807.[permanent dead link]
12. ^ Web-Md: Migraines in Children Archived 2010-12-11 at the Wayback Machine
13. ^ Mumenthaler M, Mattle H (2004). Neurology (4 ed.). Thieme. p. 992. ISBN 978-1-58890-045-6.
14. ^ a b Ko DY, Sahai-Srivastava S (2018-07-02). "Temporal Lobe Epilepsy". Medscape. Archived from the original on 2010-01-04.
15. ^ Wenzel K, Bernstein DP, Handelsman L, Rinaldi P, Ruggiero J, Higgins B (April 1996). "Levels of dissociation in detoxified substance abusers and their relationship to chronicity of alcohol and drug use". The Journal of Nervous and Mental Disease. 184 (4): 220–7. doi:10.1097/00005053-199604000-00004. PMID 8604031.
16. ^ Sadock VA (2008). Kaplan and Sadock's concise textbook of clinical psychiatry (3 ed.). Lippincott Williams & Wilkins. p. 738. ISBN 978-0-7817-8746-8.
17. ^ Steidl S, Hartnett ME (2003). Clinical pathways in vitreoretinal disease. Thieme. p. 442. ISBN 978-3-13-125811-3.
18. ^ Glaser JS (1999). Neuro-ophthalmology (3 ed.). Lippincott Williams & Wilkins. p. 667. ISBN 978-0-7817-1729-8.
19. ^ Schneck JM (September 1961). "Micropsia". The American Journal of Psychiatry. 118 (3): 232–4. doi:10.1176/ajp.118.3.232. PMID 13748178.
20. ^ Cinbis M, Aysun S (May 1992). "Alice in Wonderland syndrome as an initial manifestation of Epstein-Barr virus infection" (PDF). The British Journal of Ophthalmology. 76 (5): 316. doi:10.1136/bjo.76.5.316. PMC 504267. PMID 1390519. Archived (PDF) from the original on 2011-09-30.
21. ^ Ugarte M, Williamson TH (November 2006). "Horizontal and vertical micropsia following macula-off rhegmatogenous retinal-detachment surgical repair". Graefe's Archive for Clinical and Experimental Ophthalmology. 244 (11): 1545–8. doi:10.1007/s00417-006-0290-x. PMID 16544113.
22. ^ Brazis PW, Masdeu JC, Biller J (2007). Localization in clinical neurology (5 ed.). Lippincott Williams & Wilkins. p. 594. ISBN 978-0-7817-9952-2.
23. ^ Nair S (1 June 2009). "Macular Degeneration Symptoms". Retrieved 26 October 2009.
24. ^ a b "Retinal Clinical Applications". Archived from the original on 5 January 2011.
25. ^ Michaeli-Cohen A, Almog Y, Loewenstein A, Stolovitch C, Gutman I, Lazar M (March 1996). "Presumed ocular myasthenia and micropsia. A case report". Journal of Neuro-Ophthalmology. 16 (1): 18–20, discussion 21–2. doi:10.1097/00041327-199603000-00005. PMID 8963415.
26. ^ a b c Pons M, Garcia-Valenzuela E (29 September 2008). "Macular Degeneration Treatment". Archived from the original on 15 March 2010. Retrieved 26 October 2009.
27. ^ Hoyt WG, Miller N, Walsh F (2005). Walsh and Hoyt's clinical neuro-ophthalmology. Hagerstwon, MD: Lippincott Williams & Wilkins. p. 628. ISBN 978-0-7817-4811-7.
28. ^ Headache and the Eye Archived 2008-12-07 at the Wayback Machine
29. ^ Austin JH (2006). Zen-brain reflections: reviewing recent developments in meditation and states of consciousness. MIT Press. pp. 586. ISBN 978-0-262-01223-2.
30. ^ Chand PK, Murthy P. "Understanding a Strange Phenomenon: Lilliputian Hallucinations". German Journal of Psychiatry. Archived from the original on 2009-01-23. Retrieved 2009-10-25.
31. ^ Top 10: Weirdest Diseases You've Never Heard Of[permanent dead link]
32. ^ Ozkiris A (January 2010). "Anti-VEGF agents for age-related macular degeneration". Expert Opinion on Therapeutic Patents. 20 (1): 103–18. doi:10.1517/13543770902762885. PMID 20021287.
## External links[edit]
Classification
D
* ICD-10: H53
* ICD-9-CM: 368.14
* MeSH: D014786
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|
Micropsia
|
c0233769
| 26,397 |
wikipedia
|
https://en.wikipedia.org/wiki/Micropsia
| 2021-01-18T19:04:46 |
{"mesh": ["D014786"], "umls": ["C0233769"], "icd-9": ["368.14"], "icd-10": ["H53"], "wikidata": ["Q2354624"]}
|
A number sign (#) is used with this entry because of evidence that Ehlers-Danlos syndrome musculocontractural type 2 (EDSMC2) is caused by homozygous mutation in the DSE gene (605942) on chromosome 6q22.
Description
The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).
For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (601776).
Clinical Features
Muller et al. (2013) studied a 2-year-old Indian boy, born of first-cousin parents, who exhibited facial dysmorphism consisting of frontal bossing, open anterior fontanel, downward-slanting palpebral fissures, telecanthus, bluish sclerae, high-arched palate, tent-shaped lips, dental crowding, brachycephaly, and prominent ears, as well as arachnodactyly, adducted thumbs, joint hyperlaxity, inguinal hernia, and congenital bilateral talipes equinovarus. Echocardiography showed a patent foramen ovale, and CT scan of the brain revealed generalized mild cerebral atrophy. After clubfoot surgery, the patient had delayed wound healing and atrophic scarring of the skin. Generalized muscle weakness was observed, suggestive of an underlying myopathy, and his gross motor development was delayed. His cognitive development was normal.
Syx et al. (2015) reported 2 Spanish sisters, aged 48 and 39 years, with hyperextensible and fragile skin, frequent hematomas after minor trauma with residual calcifications and pigmentation of the skin, and clubfeet; neither had adducted thumbs, and although fingers were long and slender, they did not show true arachnodactyly, and joint hypermobility was 'not obvious.' Muscle tone and strength were reduced, and both sisters experienced joint and muscle pain that limited daily activities. The older sister required mitral valve replacement due to severe regurgitation caused by a myxomatous prolapsing mitral valve with rupture of the chordae, but the younger sister had a normal echocardiogram without significant mitral valve anomalies. The older sister experienced uterine and bladder prolapse after 2 deliveries before age 40, and the younger sister had an eventration after gallbladder surgery. Neither sister had gastrointestinal or respiratory complications, and eye examination was unremarkable.
Molecular Genetics
In a 2-year-old Indian boy with the musculocontractural type of Ehlers-Danlos syndrome, who was negative for mutation in the CHST14 gene (608429), Muller et al. (2013) performed high-density SNP array genotyping, which revealed 25 homozygous regions exceeding 4 Mb. Sequencing of the functional candidate gene DSE (605942), located within the largest, 44.689-Mb region of homozygosity, revealed a homozygous missense mutation (S268L; 605492.0001). Both parents and a healthy brother were heterozygous for the mutation, which was not found in 300 Caucasian control DNA samples or in the 1000 Genomes Project, dbSNP, or NHLBI Exome Sequencing Project databases.
In 2 Spanish sisters with a musculocontractural type of Ehlers-Danlos syndrome, who were negative for mutation in the CHST14 gene, Syx et al. (2015) sequenced the candidate gene DSE and identified homozygosity for a missense mutation (R267G; 605942.0002) that segregated with disease in the family. The authors noted that EDSMC2 appeared to be a milder disorder than CHST14-associated EDSMC1 (601776), but that the limited number of reported patients with DSE mutations made it impossible as yet to clinically distinguish ESDMC2 from EDSMC1.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Brachycephaly \- Open anterior fontanel Face \- Frontal bossing \- Hypotonic facies \- Midface hypoplasia \- Long philtrum Ears \- Prominent ears \- Abnormally shaped ears \- Soft auricles Eyes \- Downslanting palpebral fissures \- Telecanthus \- Blue sclerae \- Hypertelorism Nose \- Short nose Mouth \- High-arched palate \- Tent-shaped lips \- Small mouth Teeth \- Dental crowding CARDIOVASCULAR Heart \- Patent foramen ovale \- Mitral valve prolapse \- Mixomatous degeneration of mitral valve \- Mitral valve regurgitation ABDOMEN External Features \- Eventration of abdominal wall after surgery GENITOURINARY External Genitalia (Male) \- Inguinal hernia Internal Genitalia (Female) \- Uterine prolapse after multiple deliveries Bladder \- Bladder prolapse after multiple deliveries SKELETAL Skull \- Brachycephaly \- Open anterior fontanel Limbs \- Joint hyperlaxity (in some patients) \- Joint pain Hands \- Arachnodactyly \- Adducted thumbs (in some patients) \- Camptodactyly Feet \- Talipes equinovarus, bilateral SKIN, NAILS, & HAIR Skin \- Delayed wound healing \- Atrophic scarring \- Ecchymoses after minor trauma \- Post-ecchymotic calcifications \- Post-ecchymotic pigmentation MUSCLE, SOFT TISSUES \- Generalized muscle weakness \- Muscle pain NEUROLOGIC Central Nervous System \- Delayed gross motor development \- Cerebral atrophy, generalized mild MISCELLANEOUS \- Phenotypic variability MOLECULAR BASIS \- Caused by mutation in the dermatan sulfate epimerase gene (DSE, 605942.0001 ) ▲ 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2
|
c3809845
| 26,398 |
omim
|
https://www.omim.org/entry/615539
| 2019-09-22T15:51:43 |
{"omim": ["615539", "601776"], "orphanet": ["2953"], "synonyms": ["Adducted thumb-clubfoot syndrome", "Distal arthrogryposis with peculiar facies and hydronephrosis", "Dündar syndrome", "Ehlers-Danlos syndrome, Kosho type", "mcEDS"]}
|
Katz syndrome
Other namesHyperostosis frontalis interna
Hyperostosis frontalis interna in a 74-year-old woman
SpecialtyMedical genetics
Katz syndrome is a rare congenital disorder, presenting as a polymalformative syndrome characterized by enlarged viscera, hepatomegaly, diabetes, and skeletal anomalies that result in a short stature, cranial hyperostosis, and typical facial features. It is probably a variant of the autosomal recessive type of Craniometaphyseal Dysplasia.[1]
## Contents
* 1 Symptoms and signs
* 2 Diagnosis
* 3 Treatment
* 4 References
## Symptoms and signs[edit]
Manifestations include enlarged viscera, hepatomegaly, diabetes, short stature and cranial hyperostosis.[citation needed]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (September 2017)
## Treatment[edit]
This section is empty. You can help by adding to it. (September 2017)
## References[edit]
1. ^ Bruno Bissonnette, Igor Luginbuehl, Bruno Marciniak, Bernard J. Dalens (eds.): Syndromes: Rapid Recognition and Perioperative Implications (McGraw-Hill Companies, 2006) ISBN 0-07-135455-7
This article about a congenital malformation 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-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Katz syndrome
|
None
| 26,399 |
wikipedia
|
https://en.wikipedia.org/wiki/Katz_syndrome
| 2021-01-18T19:03:42 |
{"wikidata": ["Q6378573"]}
|
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