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20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| 20q11.2 microduplication syndrome | c4706257 | 29,600 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363659 | 2021-01-23T19:09:55 | {"icd-10": ["Q93.5"], "synonyms": ["Dup(20)(q11.2)"]} |
Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) is a periodic disease, which is a heterogeneous group of disorders characterized by short episodes of illness that regularly recur for several years alternated with healthy periods. PFAPA is characterized by high fevers lasting three to six days and recurring every 21 to 28 days, accompanied by some or all of the signs noted in its name, namely mouth sores (aphthous stomatitis), sore throat (pharyngitis), and enlarged lymph nodes (cervical adenitis). The syndrome usually occurs in children younger than five years; although it has been reported in children up to 13 years. The syndrome is sporadic and non-hereditary. The course of PFAPA can be persistent for years before spontaneous, full resolution.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Periodic fever, aphthous stomatitis, pharyngitis and adenitis | c0265235 | 29,601 | gard | https://rarediseases.info.nih.gov/diseases/5657/periodic-fever-aphthous-stomatitis-pharyngitis-and-adenitis | 2021-01-18T17:58:23 | {"mesh": ["C536025"], "orphanet": ["42642"], "synonyms": ["Marshall Syndrome", "Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome", "Marshall syndrome with periodic fever", "PFAPA"]} |
Inability to resist the urge to steal
For other uses, see Kleptomania (disambiguation).
Kleptomania
Other namesKlopemania[1]
The result of kleptomania
SpecialtyPsychiatry
Kleptomania is the inability to resist the urge to steal items, usually for reasons other than personal use or financial gain. First described in 1816, kleptomania is classified in psychiatry as an impulse control disorder.[2] Some of the main characteristics of the disorder suggest that kleptomania could be an obsessive-compulsive spectrum disorder, but also share similarities with addictive and mood disorders.[3][4]
The disorder is frequently under-diagnosed and is regularly associated with other psychiatric disorders, particularly anxiety, eating disorders, alcohol and substance abuse. Patients with kleptomania are typically treated with therapies in other areas due to the comorbid grievances rather than issues directly related to kleptomania.[5]
Over the last 100 years, a shift from psychotherapeutic to psychopharmacological interventions for kleptomania has occurred. Pharmacological treatments using selective serotonin reuptake inhibitors (SSRIs), mood stabilizers and opioid receptor antagonists, and other antidepressants along with cognitive behavioral therapy, have yielded positive results.[6] However, there have also been reports of kleptomania induced by selective serotonin reuptake inhibitors (SSRIs).[7] Nowadays, children are mostly seen to be affected by kleptomania.
## Contents
* 1 Signs and symptoms
* 2 Cause
* 2.1 Psychoanalytic models
* 2.2 Cognitive-behavioral models
* 2.3 Biological models
* 3 Diagnosis
* 4 Comorbidity
* 4.1 Substance abuse disorder
* 4.2 Obsessive-compulsive disorder
* 4.3 Pyromania
* 5 Treatment
* 5.1 Psychoanalytic and psychodynamic approach
* 5.2 Behavioral and cognitive intervention
* 5.3 Drug treatment
* 6 History
* 6.1 Etymology
* 6.2 First generation of psychoanalysis
* 6.3 Second generation of psychoanalysis
* 6.4 New perspectives
* 7 Society and culture
* 8 See also
* 9 References
* 10 External links
## Signs and symptoms[edit]
Some of the fundamental components of kleptomania include recurring intrusive thoughts, impotence to resist the compulsion to engage in stealing, and the release of internal pressure following the act. These symptoms suggest that kleptomania could be regarded as an obsessive-compulsive type of disorder.[8][9]
People diagnosed with kleptomania often have other types of disorders involving mood, anxiety, eating, impulse control, and drug use. They also have great levels of stress, guilt, and remorse, and privacy issues accompanying the act of stealing. These signs are considered to either cause or intensify general comorbid disorders. The characteristics of the behaviors associated with stealing could result in other problems as well, which include social segregation and substance abuse. The many types of other disorders frequently occurring along with kleptomania usually make clinical diagnosis uncertain.[10]
There is a difference between ordinary theft and kleptomania: "ordinary theft (whether planned or impulsive) is deliberate and is motivated by the usefulness of the object or its monetary worth," whereas with kleptomania, there "is the recurrent failure to resist impulses to steal items even though the items are not needed for personal use or for their monetary value."[11]
## Cause[edit]
### Psychoanalytic models[edit]
Many psychoanalytic theorists suggest that kleptomania is a person's attempt "to obtain symbolic compensation for an actual or anticipated loss", and feel that the key to understanding its etiology lies in the symbolic meaning of the stolen items.[12] Drive theory was used to propose that the act of stealing is a defense mechanism which serves as to modulate or keep undesirable feelings or emotions from being expressed.[13] Some French psychiatrists suggest that kleptomaniacs may just want the item that they steal and the feeling they get from theft itself.[14]
### Cognitive-behavioral models[edit]
Cognitive-behavioral models have been replacing psychoanalytic models in describing the development of kleptomania. Cognitive-behavioral practitioners often conceptualize the disorders as being the result of operant conditioning, behavioral chaining, distorted cognitions, and poor coping mechanisms.[15][16] Cognitive-behavioral models suggest that the behavior is positively reinforced after the person steals some items. If this individual experiences minimal or no negative consequences (punishment), then the likelihood that the behavior will reoccur is increased. As the behavior continues to occur, stronger antecedents or cues become contingently linked with it, in what ultimately becomes a powerful behavioral chain. According to cognitive-behavioral theory (CBT), both antecedents and consequences may either be in the environment or cognitions. For example, Kohn and Antonuccio (2002) describe a client’s antecedent cognitions, which include thoughts such as "I’m smarter than others and can get away with it"; "they deserve it"; "I want to prove to myself that I can do it"; and "my family deserves to have better things". These thoughts were strong cues to stealing behaviors. All of these thoughts were precipitated by additional antecedents which were thoughts about family, financial, and work stressors or feelings of depression. "Maintaining" cognitions provided additional reinforcement for stealing behaviors and included feelings of vindication and pride, for example: "score one for the 'little guy' against the big corporations". Although those thoughts were often afterward accompanied by feelings of remorse, this came too late in the operant sequence to serve as a viable punisher. Eventually, individuals with kleptomania come to rely upon stealing as a way of coping with stressful situations and distressing feelings, which serve to further maintain the behavior and decrease the number of available alternative coping strategies.[17]
### Biological models[edit]
Biological models explaining the origins of kleptomania have been based mostly on pharmacotherapy treatment studies that used selective serotonin reuptake inhibitors (SSRIs), mood stabilizers, and opioid receptor antagonists.[18][19]
Some studies using SSRIs have observed that opioid antagonists appear to reduce the urge to steal and mute the "rush" typically experienced immediately after stealing by some subjects suffering from kleptomania. This would suggest that poor regulation of serotonin, dopamine, and/or natural opioids within the brain are to blame for kleptomania, linking it with impulse control and affective disorders.[13][18][19]
An alternative explanation too based on opioid antagonist studies states that kleptomania is similar to the "self-medication" model, in which stealing stimulates the person’s natural opioid system. "The opioid release 'soothes' the patients, treats their sadness, or reduces their anxiety. Thus, stealing is a mechanism to relieve oneself from a chronic state of hyperarousal, perhaps produced by prior stressful or traumatic events, and thereby modulate affective states."[18]:354
## Diagnosis[edit]
Disagreement surrounds the method by which kleptomania is considered and diagnosed. On one hand, some researchers believe that kleptomania is merely theft and dispute the suggestion that there are psychological mechanisms involved, while others observe kleptomania as part of a substance-related addiction. Yet others categorize kleptomania as a variation of an impulse control disorder, such as obsessive-compulsive disorder or eating disorders.[18]:378–84
According to the Diagnostic and Statistical Manual of Mental Disorders fourth edition (DSM IV-TR), a frequent and widely used guide for the diagnosis of mental disorders, the following symptoms and characteristics are the diagnostic criteria for kleptomania:
1. repeated inability to defend against urges to steal things that are not essential for private use or for their economic value;
2. escalating sense of pressure immediately prior to performing the theft;
3. satisfaction, fulfillment or relief at the point of performing the theft;
4. the theft is not executed to convey antagonism or revenge, and is not in reaction to a delusion or a fantasy; and
5. the thieving is not better accounted for by behavior disorder, a manic episode, or antisocial personality disorder.[20]
Skeptics have decried kleptomania as an invalid psychiatric concept exploited in legal defenses of wealthy female shoplifters. During the twentieth century, kleptomania was strongly linked with the increased prevalence of department stores, and "department store kleptomaniacs" were a widely held social stereotype that had political implications.[21]
## Comorbidity[edit]
Kleptomania seems to be linked with other psychiatric disorders, especially mood swings, anxiety, eating disorders, and alcohol and substance abuse. The occurrence of stealing as a behavior in conjunction with eating disorders, particularly bulimia nervosa, is frequently taken as a sign of the harshness of the eating disorder.[22]
A likely connection between depression and kleptomania was reported as early as 1911. It has since been extensively established in clinical observations and available case reports. The mood disorder could come first or co-occur with the beginning of kleptomania. In advanced cases, depression may result in self-inflicted injury and could even lead to suicide. Some people have reported relief from depression or manic symptoms after theft.[23]
It has been suggested that because kleptomania is linked to strong compulsive and impulsive qualities, it can be viewed as a variation of obsessive-compulsive spectrum disorders, together with pathological gambling, compulsive buying, pyromania, nailbiting and trichotillomania. This point achieves support from the unusually higher cases of obsessive-compulsive disorder (OCD; see below) in close relatives of patients with kleptomania.[24]
### Substance abuse disorder[edit]
Kleptomania and drug addictions seem to have central qualities in common, including:
* recurring or compulsive participation in a behavior in spite of undesirable penalties;
* weakened control over the disturbing behavior;
* a need or desire condition before taking part in the problematic behavior; and
* a positive pleasure-seeking condition throughout the act of the disturbing behavior.
Data from epidemiological studies additionally propose that there is an affiliation between kleptomania and substance use disorders along with high rates in a unidirectional manner. Phenomenological data maintain that there is a relationship between kleptomania and drug addictions. A higher percentage of cases of kleptomania has been noted in adolescents and young adults, and a lesser number of cases among older adults, which imply an analogous natural history to that seen in substance use disorders. Family history data also propose a probable common genetic input to alcohol use and kleptomania. Substance use disorders are more common in kin of persons with kleptomania than in the general population. Furthermore, pharmacological data (e.g., the probable efficacy of the opioid antagonist, naltrexone, in the treatment of both kleptomania and substance use disorders) could present additional support for a joint relationship between kleptomania and substance use disorders. Based on the idea that kleptomania and substance use disorders may share some etiological features, it could be concluded that kleptomania would react optimistically to the same treatments. As a matter of fact, certain nonmedical treatment methods that are successful in treating substance abuse are also accommodating in treating kleptomania.[25]
### Obsessive-compulsive disorder[edit]
Kleptomania is frequently thought of as being a part of obsessive-compulsive disorder (OCD), since the irresistible and uncontrollable actions are similar to the frequently excessive, unnecessary, and unwanted rituals of OCD. Some individuals with kleptomania demonstrate hoarding symptoms that resemble those with OCD. Prevalence rates between the two disorders do not demonstrate a strong relationship. Studies examining the comorbidity of OCD in subjects with kleptomania have inconsistent results, with some showing a relatively high co-occurrence (45%-60%)[20][21] while others demonstrate low rates (0%-6.5%).[22][23] Similarly, when rates of kleptomania have been examined in subjects with OCD, a relatively low co-occurrence was found (2.2%-5.9%).[24][26]
### Pyromania[edit]
Pyromania, another impulse disorder, has many ties to kleptomania. Many pyromaniacs begin fires alongside petty stealing which often appears similar to kleptomania.[27]
## Treatment[edit]
Although the disorder has been known to psychologists for a long time, the cause of kleptomania is still ambiguous. Therefore, a diverse range of therapeutic approaches have been introduced for its treatment. These treatments include: psychoanalytic oriented psychotherapy, behavioral therapy, and pharmacotherapy.[19]
### Psychoanalytic and psychodynamic approach[edit]
Several explanations of the mechanics of kleptomania have been presented. A contemporary social approach proposes that kleptomania is an outcome of consumerism and the large quantity of commodities in society. Psychodynamic theories depend on a variety of points of view in defining the disorder. Psychoanalysts define the condition as an indication of a defense mechanism deriving in the unconscious ego against anxiety, prohibited intuition or desires, unsettled struggle or forbidden sexual drives, dread of castration, sexual excitement, and sexual fulfillment and orgasm throughout the act of stealing.[28] The psychoanalytic and psycho-dynamic approach to kleptomania granted the basis for prolonged psychoanalytic or psycho-dynamic psychotherapy as the core treatment method for a number of years. Like most psychiatric conditions, kleptomania was observed within the psycho-dynamic lens instead of being viewed as a bio-medical disorder. However, the prevalence of psychoanalytic approach contributed to the growth of other approaches, particularly in the biological domain.[29]
### Behavioral and cognitive intervention[edit]
Cognitive-behavioural therapy (CBT) has primarily substituted the psychoanalytic and dynamic approach in the treatment of kleptomania. Numerous behavioural approaches have been recommended as helpful according to several cases stated in the literature. They include: hidden sensitisation by unpleasant images of nausea and vomiting, aversion therapy (for example, aversive holding of breath to achieve a slightly painful feeling every time a desire to steal or the act is imagined), and systematic desensitisation.[30] In certain instances, the use of combining several methods such as hidden sensitisation along with exposure and response prevention were applied. Even though the approaches used in CBT need more research and investigation in kleptomania, success in combining these methods with medication was illustrated over the use of drug treatment as the single method of treatment.[31]
### Drug treatment[edit]
The phenomenological similarity and the suggested common basic biological dynamics of kleptomania and OCD, pathological gambling and trichotillomania gave rise to the theory that the similar groups of medications could be used in all these conditions. Consequently, the primary use of selective serotonin reuptake inhibitor (SSRI) group, which is a form of antidepressant, has been used in kleptomania and other impulse control disorders such as binge eating and OCD. Electroconvulsive therapy (ECT), lithium and valproic acid (sodium valproate) have been used as well.[32]
The SSRI's usage is due to the assumption that the biological dynamics of these conditions derives from low levels of serotonin in brain synapses, and that the efficacy of this type of therapy will be relevant to kleptomania and to other comorbid conditions.[33]
Opioid receptor antagonists are regarded as practical in lessening urge-related symptoms, which is a central part of impulse control disorders; for this reason, they are used in treatment of substance abuse. This quality makes them helpful in treating kleptomania and impulse control disorders in general. The most frequently used drug is naltrexone, a long-acting competitive antagonist. Naltrexone acts mainly at μ-receptors, but also antagonises κ- and λ-receptors.[34]
There have been no controlled studies of the psycho-pharmacological treatment of kleptomania. This could be as a consequence of kleptomania being a rare phenomenon and the difficulty in achieving a large enough sample. Facts about this issue come largely from case reports or from bits and pieces gathered from a comparatively small number of cases enclosed in a group series.[19]
## History[edit]
In the nineteenth century, French psychiatrists began to observe kleptomaniacal behavior, but were constrained by their approach.[citation needed] By 1890, a large body of case material on kleptomania had been developed. Hysteria, imbecility, cerebral defect, and menopause were advanced as theories to explain these seemingly nonsensical behaviors, and many linked kleptomania to immaturity, given the inclination of young children to take whatever they want. These French and German observations later became central to psychoanalytic explanations of kleptomania.[35]
### Etymology[edit]
The term kleptomania was derived from the Greek words κλέπτω (klepto) "to steal" and μανία (mania) "mad desire, compulsion". Its meaning roughly corresponds to "compulsion to steal" or "compulsive stealing".[36]
### First generation of psychoanalysis[edit]
In the early twentieth century, kleptomania was viewed more as a legal excuse for self-indulgent haut bourgeois ladies than a valid psychiatric ailment by French psychiatrists.[37][38]
Sigmund Freud, the creator of controversial psychoanalytic theory, believed that the underlying dynamics of human behaviours associated with uncivilized savages—impulses were curbed by inhibitions for social life. He did not believe human behaviour to be rational. He created a large theoretical corpus which his disciples applied to such psychological problems as kleptomania. In 1924, one of his followers, Wilhelm Stekel, read the case of a female kleptomaniac who was driven by suppressed sexual urges to take hold of "something forbidden, secretly". Stekel concluded that kleptomania was "suppressed and superseded sexual desire carried out through medium of a symbol or symbolic action. Every compulsion in psychic life is brought about by suppression".[39]
### Second generation of psychoanalysis[edit]
Fritz Wittels argued that kleptomaniacs were sexually underdeveloped people who felt deprived of love and had little experience with human sexual relationships; stealing was their sex life, giving them thrills so powerful that they did not want to be cured. Male kleptomaniacs, in his view, were homosexual or invariably effeminate.[40][41]
A famous large-scale analysis of shoplifters in the United Kingdom ridiculed Stekel's notion of sexual symbolism and claimed that one out of five apprehended shoplifters was a "psychiatric".[42]
### New perspectives[edit]
Empirically based conceptual articles have argued that kleptomania is becoming more common than previously thought, and occurs more frequently among women than men. These ideas are new in recent history but echo those current in the mid to late nineteenth century.[13]:986–996
## Society and culture[edit]
Stealing frequently becomes an obsession. Although people know they could get caught and marked for life, they find it hard to give up the habit. Major symptoms include a person's decreased resistance to steal objects unnecessarily, feeling entitled to own them at any cost. If a person gets away with stealing they may experience an adrenaline rush and for some successful thefts, dopamine is produced by the brain that can affect heart rate and blood pressure.[43]
## See also[edit]
* Portrait of a Kleptomaniac
## References[edit]
1. ^ "Word List: Definitions of Mania Words and Obsessions". phrontistery.info.
2. ^ Shulman, Terrence Daryl (2004). Something for Nothing: Shoplifting Addiction & Recovery. Haverford, PA: Infinity Publishing. ISBN 0741417790.
3. ^ Diagnostic and Statistical Manual of Mental Disorders IV. pp. 1211.
4. ^ Grant, Jon (2006). "Understanding and Treating Kleptomania: New Models and New Treatments". The Israel Journal of Psychiatry and Related Sciences. 43 (2): 81–7. PMID 16910369. ProQuest 236926707.
5. ^ Grant, JE (2004). "Co-occurrence of personality disorders in persons with kleptomania: a preliminary investigation". Journal of the American Academy of Psychiatry and the Law. 32 (4): 395–8. PMID 15704625.
6. ^ Aizer, A.; Lowengrub, K.; Dannon, P.N. (2004). "Kleptomania after head trauma: two case reports and the combination treatment strategies". Clinical Neuropharmacology. 27 (5): 211–5. doi:10.1097/01.wnf.0000144042.66342.d3. PMID 15602100.
7. ^ Kindler, Seth; Dannon, Pinhas N.; Iancu, Iulian; Sasson, Yehuda; Zohar, Joseph (1997-04-01). "Emergence of Kleptomania During Treatment for Depression with Serotonin Selective Reuptake Inhibitors". Clinical Neuropharmacology. 20 (2): 126–129. doi:10.1097/00002826-199704000-00003. ISSN 0362-5664. PMID 9099464.
8. ^ Gürlek Yüksel, E.; Taşkin, E.O.; Yilmaz Ovali, G.; Karaçam, M.; Esen Danaci, A. (2007). "Case report: kleptomania and other psychiatric symptoms after carbon monoxide intoxication". Türk Psikiyatri Dergisi (Turkish Journal of Psychiatry) (in Turkish). 18 (1): 80–6. PMID 17364271.
9. ^ Grant, J.E. (2006). "Understanding and treating kleptomania: new models and new treatments". The Israel Journal of Psychiatry and Related Sciences. 43 (2): 81–7. PMID 16910369.
10. ^ Hollander, Eric; Stein, Dan (2006). Clinical Manual of Impulse-Control Disorders. 1st ed. Arlington: American Psyschiatric Publishing Inc. p. 223-4.
11. ^ American Psychiatric Association, ed. (2000). DSM-IV-TR (4th ed.). Arlinton, VA: American Psychiatric Association. pp. 667–668.
12. ^ Cupchik, W.; Atcheson, D.J. (1983). "Shoplifting: An Occasional Crime Of The Moral Majority". The Bulletin of the American Academy of Psychiatry and the Law. 11 (4): 343–54. PMID 6661563.
13. ^ a b c Goldman, Marcus J. (1991). "Kleptomania: Making Sense of the Nonsensical". American Journal of Psychiatry. 148 (8): 986–96. doi:10.1176/ajp.148.8.986. PMID 1853988.
14. ^ Fullerton, Ronald A. (2016-08-11). "Psychoanalyzing kleptomania". Marketing Theory. 7 (4): 335–352. doi:10.1177/1470593107083160. S2CID 220165913.
15. ^ Gauthier & Pellerin, 1982.
16. ^ Kohn & Antonuccio, 2002.
17. ^ John, C.S.; Kalal, D. M.; Kastell, K.; Viera, J. (2006). "Kleptomania". In Fisher, J. E.; O'Donohue, W. T. (eds.). Practitioner's guide to evidence-based psychotherapy. New York: Springer.
18. ^ a b c d Grant, J.E.; Kim, S.W. (2002). "Clinical characteristics and associated psychopathology of 22 patients with kleptomania". Comprehensive Psychiatry. 43 (5): 378–84. doi:10.1053/comp.2002.34628. PMID 12216013.
19. ^ a b c d Durst, Rimona; Katz, Gregory; Teitelbaum, Josef Zislin; Dannon, N.P. (2001). "Kleptomania: Diagnosis and Treatment Options". CNS Drugs. 15 (3): 185–195. doi:10.2165/00023210-200115030-00003. PMID 11463127.
20. ^ a b Presta, S.; Marazziti, D.; Dell'Osso, L.; Pfanner, C.; Pallanti, S.; Cassano, G.B. (2002). "Kleptomania: clinical features and comorbidity in an Italian sample". Comprehensive Psychiatry. 43 (1): 7–12. doi:10.1053/comp.2002.29851. PMID 11788913.
21. ^ a b McElroy, S.L.; Pope, H.G.; Hudson, J.I.; Keck, P.E.; White, K.L. (1991). "Kleptomania: a report of 20 cases". The American Journal of Psychiatry. 148 (5): 652–7. doi:10.1176/ajp.148.5.652. PMID 2018170.
22. ^ a b Baylé, F.J.; Caci, H.; Millet, B.; Richa, S.; Olié, J.P. (2003). "Psychopathology and comorbidity of psychiatric disorders in patients with kleptomania". The American Journal of Psychiatry. 160 (8): 1509–13. doi:10.1176/appi.ajp.160.8.1509. PMID 12900315.
23. ^ a b Grant, J.E. (2003). "Family history and psychiatric comorbidity in persons with kleptomania". Comprehensive Psychiatry. 44 (6): 437–41. doi:10.1016/S0010-440X(03)00150-0. PMID 14610719.
24. ^ a b Matsunaga, H.; Kiriike, N.; Matsui, T.; Oya, K.; Okino, K.; Stein, D.J. (2005). "Impulsive disorders in Japanese adult patients with obsessive-compulsive disorder". Comprehensive Psychiatry. 46 (1): 43–9. doi:10.1016/j.comppsych.2004.07.001. PMID 15714194.
25. ^ Grant, J.E.; Grant, M.P.H.; Odlaug, Brian L.; Kim, S.W. (2010). "Kleptomania: Clinical Characteristics and Relationship to Substance Use Disorders". The American Journal of Drug and Alcohol Abuse. 36 (5): 291–295. doi:10.3109/00952991003721100. PMID 20575650. S2CID 26969387.
26. ^ Fontenelle, L.F.; Mendlowicz, M.V.; Versiani, M. (2005). "Impulse control disorders in patients with obsessive-compulsive disorder". Psychiatry and Clinical Neurosciences. 59 (1): 30–37. doi:10.1111/j.1440-1819.2005.01328.x. PMID 15679537. S2CID 46151157.
27. ^ Sadock, Benjamin J; Sadock, Virginia A (21 April 2008). Kaplan and Sadock's Concise Textbook of Clinical Psychiatry. ISBN 9780781787468.
28. ^ "From stack-firing to pyromania: medico-legal concepts of insane arson in British, US and European contexts, c. 1800-1913". Part I. History of Psychiatry. 2010; 21: 243-260
29. ^ Levy, Sidney (2007). "Challenging the Philosophical Assumptions of Marketing". Journal of Macro-marketing. 27: 7-14.
30. ^ "Historical Research in the Journal of Macromarketing, 1981-2005". Journal of Macromarketing. 2006; 26: 178-192.
31. ^ "Introduction to the Special Issue on the History of Marketing Thought". Marketing Theory. September 1, 2005. 5: 235-237.
32. ^ "Consumer Misbehavior: The Rise of Self-Service Grocery Retailing and Shoplifting in the United Kingdom c. 1950-1970". Journal of Macromarketing. June 1, 2005. 25: 66-75.
33. ^ "Sources of Immoderation and Proportion in Marketing". Thought Marketing Theory. June 1, 2005. 5: 221-231.
34. ^ Fullerton, Ronald A.; Punj, Girish N. (June 2004). "Shoplifting as Moral Insanity: Historical Perspectives on Kleptomania". Journal of Macromarketing. 24 (1): 8–16. doi:10.1177/0276146704263811. S2CID 145629064.
35. ^ Juqueller, Paul; Vinchon, Jean (1914). "Revue de Psychiatrie et de Psychologies Experimental". L'Historie de la Kleptomanie: 47–64.
36. ^ "Drug Suppresses The Compulsion To Steal, Study Shows".
37. ^ A., Antheaume (1925). "L'Encéphale". La Légende de la Kleptomanie Affection Mental Fictive. 20: 368–388.
38. ^ Friedemann, Max; Willard, Clara (trans.) (1930). "Psychoanalytical Review". Cleptomanis: The Analytic and Forensic Aspects. 17: 452–470.
39. ^ Wilhelm, Stekel; Teslaar, James S. Van (trans.) (1924). "Sexual root of kleptomania". Peculiarities of Behaviour. 2. 2 (Journal of the American Institute of Criminal Law and Criminology): 239–246.
40. ^ Fritz, Wittels (1942). Kleptomania and Other Psychopathology. 2. 4: 205–216. Missing or empty `|title=` (help)
41. ^ Wittels, Fritz (1929). "Some remarks on kleptomania". The Journal of Nervous and Mental Disease. 3. 29 (3): 241–251. doi:10.1097/00005053-192903000-00001. S2CID 145589133.
42. ^ Gibbens, T.C.N.; Prince, Joyce (1961). "Shoplifting". London: The Institute for the Study and Treatment of Delinquency.
43. ^ "Causes of Crime - Explaining Crime, Physical Abnormalities, Psychological Disorders, Social And Economic Factors, Broken Windows, Income And Education". law.jrank.org.
## External links[edit]
Classification
D
* ICD-10: F63.2
* ICD-9-CM: 312.32
* MeSH: D007174
* SNOMED CT: 69361009
Media related to Kleptomania at Wikimedia Commons
* v
* t
* e
Mental and behavioral disorders
Adult personality and behavior
Gender dysphoria
* Ego-dystonic sexual orientation
* Paraphilia
* Fetishism
* Voyeurism
* Sexual maturation disorder
* Sexual relationship disorder
Other
* Factitious disorder
* Munchausen syndrome
* Intermittent explosive disorder
* Dermatillomania
* Kleptomania
* Pyromania
* Trichotillomania
* Personality disorder
Childhood and learning
Emotional and behavioral
* ADHD
* Conduct disorder
* ODD
* Emotional and behavioral disorders
* Separation anxiety disorder
* Movement disorders
* Stereotypic
* Social functioning
* DAD
* RAD
* Selective mutism
* Speech
* Stuttering
* Cluttering
* Tic disorder
* Tourette syndrome
Intellectual disability
* X-linked intellectual disability
* Lujan–Fryns syndrome
Psychological development
(developmental disabilities)
* Pervasive
* Specific
Mood (affective)
* Bipolar
* Bipolar I
* Bipolar II
* Bipolar NOS
* Cyclothymia
* Depression
* Atypical depression
* Dysthymia
* Major depressive disorder
* Melancholic depression
* Seasonal affective disorder
* Mania
Neurological and symptomatic
Autism spectrum
* Autism
* Asperger syndrome
* High-functioning autism
* PDD-NOS
* Savant syndrome
Dementia
* AIDS dementia complex
* Alzheimer's disease
* Creutzfeldt–Jakob disease
* Frontotemporal dementia
* Huntington's disease
* Mild cognitive impairment
* Parkinson's disease
* Pick's disease
* Sundowning
* Vascular dementia
* Wandering
Other
* Delirium
* Organic brain syndrome
* Post-concussion syndrome
Neurotic, stress-related and somatoform
Adjustment
* Adjustment disorder with depressed mood
Anxiety
Phobia
* Agoraphobia
* Social anxiety
* Social phobia
* Anthropophobia
* Specific social phobia
* Specific phobia
* Claustrophobia
Other
* Generalized anxiety disorder
* OCD
* Panic attack
* Panic disorder
* Stress
* Acute stress reaction
* PTSD
Dissociative
* Depersonalization disorder
* Dissociative identity disorder
* Fugue state
* Psychogenic amnesia
Somatic symptom
* Body dysmorphic disorder
* Conversion disorder
* Ganser syndrome
* Globus pharyngis
* Psychogenic non-epileptic seizures
* False pregnancy
* Hypochondriasis
* Mass psychogenic illness
* Nosophobia
* Psychogenic pain
* Somatization disorder
Physiological and physical behavior
Eating
* Anorexia nervosa
* Bulimia nervosa
* Rumination syndrome
* Other specified feeding or eating disorder
Nonorganic sleep
* Hypersomnia
* Insomnia
* Parasomnia
* Night terror
* Nightmare
* REM sleep behavior disorder
Postnatal
* Postpartum depression
* Postpartum psychosis
Sexual dysfunction
Arousal
* Erectile dysfunction
* Female sexual arousal disorder
Desire
* Hypersexuality
* Hypoactive sexual desire disorder
Orgasm
* Anorgasmia
* Delayed ejaculation
* Premature ejaculation
* Sexual anhedonia
Pain
* Nonorganic dyspareunia
* Nonorganic vaginismus
Psychoactive substances, substance abuse and substance-related
* Drug overdose
* Intoxication
* Physical dependence
* Rebound effect
* Stimulant psychosis
* Substance dependence
* Withdrawal
Schizophrenia, schizotypal and delusional
Delusional
* Delusional disorder
* Folie à deux
Psychosis and
schizophrenia-like
* Brief reactive psychosis
* Schizoaffective disorder
* Schizophreniform disorder
Schizophrenia
* Childhood schizophrenia
* Disorganized (hebephrenic) schizophrenia
* Paranoid schizophrenia
* Pseudoneurotic schizophrenia
* Simple-type schizophrenia
Other
* Catatonia
Symptoms and uncategorized
* Impulse control disorder
* Klüver–Bucy syndrome
* Psychomotor agitation
* Stereotypy
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Kleptomania | c0022734 | 29,602 | wikipedia | https://en.wikipedia.org/wiki/Kleptomania | 2021-01-18T18:31:40 | {"mesh": ["D007174"], "umls": ["C0022734"], "wikidata": ["Q212021"]} |
Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Distal monosomy 19p13.3 | None | 29,603 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96129 | 2021-01-23T18:15:30 | {"icd-10": ["Q93.5"], "synonyms": ["Distal deletion 19p", "Telomeric deletion 19p"]} |
Choroideremia is a genetic condition that causes vision loss. This disorder typically affects males. The first symptom is usually impairment of night vision (night blindness), which can occur in childhood. People with this disorder also experience narrowing of the field of vision (tunnel vision) and decrease in the ability to see details (visual acuity). The vision problems are due to loss of cells in the retina (light sensitive part of the eye) and choroid (blood vessels in the eye). The vision issues tend to get worse over time and usually lead to blindness in late adulthood. The rate and degree of vision loss differs for each person. Choroideremia is caused by spelling mistakes (mutations) in the CHM gene and is inherited in an X-linked recessive pattern.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Choroideremia | c0008525 | 29,604 | gard | https://rarediseases.info.nih.gov/diseases/6061/choroideremia | 2021-01-18T18:01:26 | {"mesh": ["D015794"], "omim": ["303100"], "orphanet": ["180"], "synonyms": ["CHM", "Progressive tapetochoroidal dystrophy", "TCD"]} |
Virus not previously detected
A novel virus is a virus that has not previously been recorded. It can be a virus that is isolated from its natural reservoir or isolated as the result of spread to an animal or human host where the virus had not been identified before. It can be an emergent virus, one that represents a new virus, but it can also be an extant virus that has not been previously identified.[1][2]
## See also[edit]
* HCoV-EMC/2012
* Influenza A virus subtype H1N1
* London1_novel CoV/2012
* Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) / 2019
## References[edit]
1. ^ Strauss, James H. Viruses and Human Disease. San Diego. Academic Press. 2002.
2. ^ Horowitz, Leonard (1996). Emerging Viruses: AIDS and Ebola : Nature, Accident, Or Intentional? (PDF). Rockport, MA: Tetrahedron. ISBN 9780923550127. Retrieved August 4, 2020.
This virus-related article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Novel virus | None | 29,605 | wikipedia | https://en.wikipedia.org/wiki/Novel_virus | 2021-01-18T18:51:58 | {"wikidata": ["Q16000255"]} |
For the 2009 film, see The Hangover. For other uses, see Hangover (disambiguation).
"Morning After" redirects here. For the album by Dvsn, see Morning After (album).
Hangover
Other namesveisalgia from Norwegian: kveis, "discomfort following overindulgence", and Greek: ἄλγος álgos, "pain"
The Day After by Edvard Munch, 1894–95
Pronunciation
* /ˈhæŋoʊvər/
SpecialtyPsychiatry, toxicology
A hangover is the experience of various unpleasant physiological and psychological effects usually following the consumption of alcohol, such as wine, beer, and distilled spirits. Hangovers can last for several hours or for more than 24 hours. Typical symptoms of a hangover may include headache, drowsiness, concentration problems, dry mouth, dizziness, fatigue, gastrointestinal distress (e.g., vomiting, diarrhea), absence of hunger, light sensitivity, depression, sweating, nausea, hyper-excitability, irritability, and anxiety.[1]
While the causes of a hangover are still poorly understood,[2] several factors are known to be involved including acetaldehyde accumulation, changes in the immune system and glucose metabolism, dehydration, metabolic acidosis, disturbed prostaglandin synthesis, increased cardiac output, vasodilation, sleep deprivation and malnutrition. Beverage-specific effects of additives or by-products such as congeners in alcoholic beverages also play an important role.[1] The symptoms usually occur after the intoxicating effect of the alcohol begins to wear off, generally the morning after a night of heavy drinking.[3]
Though many possible remedies and folk cures have been suggested, there is no compelling evidence to suggest that any are effective for preventing or treating alcohol hangover.[4] Avoiding alcohol or drinking in moderation are the most effective ways to avoid a hangover.[4] The socioeconomic consequences and health risks of alcohol hangover include workplace absenteeism, impaired job performance, reduced productivity and poor academic achievement. A hangover may also impair performance during potentially dangerous daily activities such as driving a car or operating heavy machinery.[5]
## Contents
* 1 Folk Etymology
* 2 Signs and symptoms
* 3 Causes
* 3.1 Pathophysiology
* 3.2 Acetaldehyde
* 3.3 Congeners
* 3.4 Vitamin and electrolyte loss
* 3.5 Dehydration
* 3.6 Low blood sugar
* 3.7 Immune system
* 3.8 Person-related factors
* 4 Management
* 4.1 Potentially beneficial
* 4.2 Unsupported remedies
* 5 Epidemiology
* 6 Society and culture
* 7 Research
* 8 See also
* 9 References
* 10 External links
## Folk Etymology[edit]
An early version of a homeless shelter where people paid two pence to sleep while hanging over a rope. This has been proposed as a possible origin of the term "hangover".
According to an article in Historic UK, the term hangover would come from the practice of homeless people in London spending the night in a room sleeping while literally hanging over a rope. Some establishments allowed people to lean on the rope while sitting on a bench, while other only allowed people to stand and lean on the taut rope. The usual cost of these lodgings was two pence and gave us the Victorian era term of ‘two-penny hangover’.[6]
The academically accepted explanation is the mere extension of the sense of "a survival, a thing left over from before" at least as early as 1902.[7][8]
## Signs and symptoms[edit]
A painting from 1681 showing a person affected by vomiting, a typical symptom of alcohol hangover
An alcohol hangover is associated with a variety of symptoms that may include drowsiness, headache, concentration problems, dry mouth, dizziness, gastrointestinal complaints, fatigue, sweating, nausea, hyper-excitability, anxiety, and a feeling of general discomfort that may last more than 24 hours.[9] Alcohol hangover symptoms develop when blood alcohol concentration falls considerably and peak when it returns to almost zero.[5][10] Hangover symptoms validated in controlled studies include general malaise, thirst, headache, feeling dizzy or faint, tiredness, loss of appetite, nausea, stomach ache, and feeling as though one's heart is racing. Some symptoms such as changes in sleep pattern and gastrointestinal distress are attributed to direct effects of the alcohol intoxication, or withdrawal symptoms.[11] Drowsiness and impaired cognitive function are the two dominant features of alcohol hangover.[10]
## Causes[edit]
The processes which lead to hangovers are still poorly understood.[2] Several pathophysiological changes may give rise to the alcohol hangover including increased levels of acetaldehyde, hormonal alterations of the cytokine pathways and decrease of the availability of glucose. Additional associated phenomena are dehydration, metabolic acidosis, disturbed prostaglandin synthesis, increased cardiac output, vasodilation, sleep deprivation and insufficient eating.[1] Some complex organic molecules found in alcoholic beverages known as congeners may play an important role in producing hangover effects because some, such as methanol, are metabolized to the notably toxic substances formaldehyde and formic acid.[1]
### Pathophysiology[edit]
Alcohol flush reaction as a result of the accumulation of acetaldehyde, the first metabolite of alcohol
After being ingested, the ethanol in alcoholic beverages is first converted to acetaldehyde by the enzyme alcohol dehydrogenase and then to acetic acid by oxidation and egestion process. These reactions also convert nicotinamide adenine dinucleotide (NAD+) to its reduced form NADH in a redox reaction. By causing an imbalance of the NAD+/NADH redox system, alcoholic beverages make normal bodily functions more difficult. Consequences of the alcohol induced redox changes in the human body include increased triglyceride production, increased amino acid catabolism, inhibition of the citric acid cycle, lactic acidosis, ketoacidosis, hyperuricemia, disturbance in cortisol and androgen metabolism and increased fibrogenesis. The metabolism of glucose and insulin are also influenced.[12] However, recent studies showed no significant correlation between hangover severity and the concentrations of various hormones, electrolytes, free fatty acids, triglycerides, lactate, ketone bodies, cortisol, and glucose in blood and urine samples.[3]
Alcohol also induces the CYP2E1 enzyme, which metabolizes ethanol and other substances into more reactive toxins. In particular, in binge drinking the enzyme is activated and plays a role in creating a harmful condition known as oxidative stress which can lead to cell death.[13]
### Acetaldehyde[edit]
Acetaldehyde, the first by-product of ethanol, is between 10 and 30 times more toxic than alcohol itself[14] and can remain at an elevated plateau for many hours after initial ethanol consumption.[15] In addition, certain genetic factors can amplify the negative effects of acetaldehyde. For example, some people (predominantly East Asians) have a mutation in their alcohol dehydrogenase gene that makes this enzyme unusually fast at converting ethanol to acetaldehyde. In addition, about half of all East Asians convert acetaldehyde to acetic acid more slowly (via acetaldehyde dehydrogenase), causing a higher buildup of acetaldehyde than normally seen in other groups.[16] The high concentration of acetaldehyde causes the alcohol flush reaction, colloquially known as the "Asian Flush". Since the alcohol flush reaction is highly uncomfortable and the possibility of hangovers is immediate and severe, people with this gene variant are less likely to become alcoholics.[17][18]
Clear liquors such as this bottle of Finlandia vodka have a lower concentration of congeners
Acetaldehyde may also influence glutathione peroxidase, a key antioxidant enzyme, and increases the susceptibility to oxidative stress.[13] Likewise, acetic acid (or the acetate ion) can cause additional problems. One study found that injecting sodium acetate into rats caused them to have nociceptive behavior (headaches). In addition, there is a biochemical explanation for this finding. High acetate levels cause adenosine to accumulate in many parts of the brain. But when the rats were given caffeine, which blocks the action of adenosine, they no longer experienced headaches.[19][20][21]
### Congeners[edit]
In addition to ethanol and water, most alcoholic drinks also contain congeners, either as flavoring or as a by-product of fermentation and the wine aging process. While ethanol is by itself sufficient to produce most hangover effects, congeners may potentially aggravate hangover and other residual effects to some extent. Congeners include substances such as amines, amides, acetones, acetaldehydes, polyphenols, methanol, histamines, fusel oil, esters, furfural, and tannins, many but not all of which are toxic.[11] One study in mice indicates that fusel oil may have a mitigating effect on hangover symptoms,[22] while some whiskey congeners such as butanol protect the stomach against gastric mucosal damage in the rat.[23] Different types of alcoholic beverages contain different amounts of congeners. In general, dark liquors have a higher concentration while clear liquors have a lower concentration. Whereas vodka has virtually no more congeners than pure ethanol, bourbon has a total congener content 37 times higher than that found in vodka.[11]
Several studies have examined whether certain types of alcohol cause worse hangovers.[24][25][26][27] All four studies concluded that darker liquors, which have higher congeners, produced worse hangovers. One even showed that hangovers were worse and more frequent with darker liquors.[24] In a 2006 study, an average of 14 standard drinks (330 ml each) of beer was needed to produce a hangover, but only 7 to 8 drinks was required for wine or liquor (note that one standard drink has the same amount of alcohol regardless of type).[27] Another study ranked several drinks by their ability to cause a hangover as follows (from low to high): distilled ethanol diluted with fruit juice, beer, vodka, gin, white wine, whisky, rum, red wine and brandy.[26][27]
One potent congener is methanol. It is naturally formed in small quantities during fermentation and it can be accidentally concentrated by improper distillation techniques. Metabolism of methanol produces some extremely toxic compounds, such as formaldehyde and formic acid, which may play a role in the severity of hangover. Ethanol slows the conversion of methanol into its toxic metabolites so that most of the methanol can be excreted harmlessly in the breath and urine without forming its toxic metabolites. This may explain the temporary postponement of symptoms reported in the common remedy of drinking more alcohol to relieve hangover symptoms.[11][28] Since methanol metabolism is effectively inhibited by consumption of alcohol, methanol accumulates during drinking and only begins to be metabolized once ethanol has been cleared. This delayed action makes it an attractive candidate explanation for delayed post-intoxication symptoms and correlations between methanol concentrations and the presence of hangover symptoms that have been found in studies.[3]
### Vitamin and electrolyte loss[edit]
The metabolic processes required for alcohol elimination deplete essential vitamins[29] and electrolytes.[30] Furthermore, alcohol is a diuretic, causing excretion of electrolytes through urination. After a night of drinking, the resulting lack of key B and C vitamins, as well as potassium, magnesium, and zinc may cause fatigue, aching and other hangover-like symptoms.[citation needed]
### Dehydration[edit]
Ethanol has a dehydrating effect by causing increased urine production (diuresis), which could cause thirst, dry mouth, dizziness and may lead to an electrolyte imbalance. Studies suggest that electrolyte changes play only a minor role in the genesis of the alcohol hangover and are caused by dehydration effects. Drinking water may help relieve symptoms as a result of dehydration but it is unlikely that rehydration significantly reduces the presence and severity of alcohol hangover.[3] Alcohol's effect on the stomach lining can account for nausea because alcohol stimulates the production of hydrochloric acid in the stomach.
### Low blood sugar[edit]
Studies show that alcohol hangover is associated with a decrease in blood glucose concentration (less than 70 ml/dl), but the relationship between blood glucose concentration and hangover severity is unclear.[3] Also known as insulin shock, hypoglycemia can lead to coma or even death.[31]
### Immune system[edit]
In current research, the significant relationship between immune factors and hangover severity is the most convincing among all factors so far studied.[3] An imbalance of the immune system, in particular of cytokine metabolism has been identified as playing a role in the pathophysiology of the hangover state. Especially the hangover symptoms nausea, headache, and fatigue have been suggested to be mediated by changes in the immune system. The concentration of several cytokines have been found to be significantly increased in the blood after alcohol consumption. These include interleukin 12 (IL-12), interferon gamma (IFNγ) and interleukin 10 (IL-10).[32] Some pharmacological studies such as on tolfenamic acid[33] and Opuntia ficus-indica (OFI)[34] have also indicated an involvement of the immune system. These studies suggest that the presence and severity of hangover symptoms can probably be reduced by administration of a cyclooxygenase inhibitor such as aspirin or ibuprofen.[3]
### Person-related factors[edit]
Several factors which do not in themselves cause alcohol hangover are known to influence its severity. These factors include personality, genetics, health status, age, sex, associated activities during drinking such as smoking, the use of other drugs, physical activity such as dancing, as well as sleep quality and duration.[3]
* Genetics: alleles associated with aldehyde dehydrogenase (ALDH) and flushing phenotypes (alcohol flush reaction) in Asians are known genetic factors that influence alcohol tolerance and the development of hangover effects. Existing data shows that drinkers with genotypes known to lead to acetaldehyde accumulation are more susceptible to hangover effects.[35] The fact that about 25% of heavy drinkers claim that they have never had a hangover is also an indication that genetic variation plays a role in individual differences of hangover severity.[5]
* Age: some people experience hangovers as getting worse as one ages. This is thought to be caused by declining supplies of alcohol dehydrogenase, the enzyme involved in metabolizing alcohol. Although it is actually unknown whether hangover symptoms and severity change with age, research shows that drinking patterns change across ages, and heavy drinking episodes that may result in hangover are much less often experienced as age increases.[5]
* Sex: at the same number of drinks, women are more prone to hangover than men, and this is likely explained by sex differences in the pharmacokinetics of alcohol. Women attain a higher blood alcohol concentration (BAC) than men at the same number of drinks. At equivalent BACs, men and women appear to be indistinguishable with respect to most hangover effects.[35]
* Cigarette smoking: acetaldehyde which is absorbed from cigarette smoking during alcohol consumption is regarded as a contributor to alcohol hangover symptoms.[13]
## Management[edit]
Main article: Hangover remedies
See also: Alcohol intoxication § Management
Hangovers are poorly understood from a medical point of view.[36] Health care professionals prefer to study alcohol abuse from a standpoint of treatment and prevention, and there is a view that the hangover provides a useful, natural and intrinsic disincentive to excessive drinking.[37]
Within the limited amount of serious study on the subject, there is debate about whether a hangover may be prevented or at least mitigated. There is also a vast body of folk medicine and simple quackery. A four-page literature review in the British Medical Journal concludes: "No compelling evidence exists to suggest that any conventional or complementary intervention is effective for preventing or treating alcohol hangover. The most effective way to avoid the symptoms of alcohol induced hangover is to avoid drinking."[4] Most remedies do not significantly reduce overall hangover severity. Some compounds reduce specific symptoms such as vomiting and headache, but are not effective in reducing other common hangover symptoms such as drowsiness and fatigue.[38]
### Potentially beneficial[edit]
A bottle of Aspirin from 1899
Some sources indicate there is no evidence that any treatments for hangovers are effective.[4][38]
* Rehydration: Drinking water before going to bed or during hangover may relieve dehydration-associated symptoms such as thirst, dizziness, dry mouth, and headache.[3][24]
* Non-steroidal anti-inflammatory drugs such as aspirin or ibuprofen have been proposed as a treatment for the headaches associated with a hangover. There however is no evidence to support a benefit, and there are concerns that taking alcohol and aspirin together may increase the risk of stomach bleeding and liver damage.[38]
* Tolfenamic acid, an inhibitor of prostaglandin synthesis, in a 1983 study reduced headache, nausea, vomiting, irritation but had no effect on tiredness in 30 people.[38]
* Pyritinol: A 1973 study found that large doses (several hundred times the recommended daily intake) of Pyritinol, a synthetic Vitamin B6 analog, can help to reduce hangover symptoms.[24] Possible side effects of pyritinol include hepatitis (liver damage) due to cholestasis and acute pancreatitis.[39][40]
* Yeast-based extracts: The difference in the change for discomfort, restlessness, and impatience were statistically significant but no significant differences on blood chemistry parameters, blood alcohol or acetaldehyde concentrations have been found, and it did not significantly improve general well-being.[38]
### Unsupported remedies[edit]
See also: Hangover food
Kudzu roots (Pueraria lobata), a common ingredient in herbal hangover remedies, may have harmful effects when combined with alcohol
Recommendations for foods, drinks and activities to relieve hangover symptoms abound. The ancient Romans, on the authority of Pliny the Elder, favored raw owl's eggs or fried canary,[41] while the "prairie oyster" restorative, introduced at the 1878 Paris World Exposition, calls for raw egg yolk mixed with Worcestershire sauce, Tabasco sauce, salt and pepper.[42] By 1938, the Ritz-Carlton Hotel provided a hangover remedy in the form of a mixture of Coca-Cola and milk[42] (Coca-Cola itself having been invented, by some accounts,[43][44] as a hangover remedy). Alcoholic writer Ernest Hemingway relied on tomato juice and beer.[45] Other purported hangover cures include cocktails such as Bloody Mary or Black Velvet (consisting of equal parts champagne and stout).[45] A 1957 survey by an American folklorist found widespread belief in the efficacy of heavy fried foods, tomato juice and sexual activity.[46]
Other untested or discredited treatments include:
* Hair of the dog: The belief is that consumption of further alcohol after the onset of a hangover will relieve symptoms, based upon the theory that the hangover represents a form of alcohol withdrawal[37] and that by satiating the body's need for alcohol the symptoms will be relieved. Social drinkers and alcoholics claim that drinking more alcohol gives relief from hangover symptoms, but research shows that the use of alcohol as a hangover cure seems to predict current or future problem drinking and alcohol use disorder, through negative reinforcement and the development of physical dependence.[28][35] While the practice is popular in tradition[46] and promoted by many sellers of alcoholic beverages,[47] medical opinion holds that the practice merely postpones the symptoms, and courts addiction.[48] Favored choices include a Corpse Reviver, Fernet Branca[49] and Bloody Mary.[50]
* Kudzu (葛, Pueraria montana var. lobata): The main ingredient in remedies such as kakkonto. A study concluded, "The chronic usage of Pueraria lobata at times of high ethanol consumption, such as in hangover remedies, may predispose subjects to an increased risk of acetaldehyde-related neoplasm and pathology. ... Pueraria lobata appears to be an inappropriate herb for use in herbal hangover remedies as it is an inhibitor of ALDH2."[51]
* Artichoke: Research shows that artichoke extract does not prevent the signs and symptoms of alcohol-induced hangover.[38]
* Sauna or steam-bath: Medical opinion holds this may be dangerous, as the combination of alcohol and hyperthermia increases the likelihood of dangerous abnormal heart rhythms.[52]
* Oxygen: There have been anecdotal reports from those with easy access to a breathing oxygen supply – medical staff, and military pilots — that oxygen can also reduce the symptoms of hangovers sometimes caused by alcohol consumption. The theory is that the increased oxygen flow resulting from oxygen therapy improves the metabolic rate, and thus increases the speed at which toxins are broken down.[53] However, one source states that (in an aviation context) oxygen has no effect on physical impairment caused by hangover.[54]
* Fructose and glucose: Glucose and fructose significantly inhibit the metabolic changes produced by alcohol intoxication, nevertheless they have no significant effect on hangover severity.[38]
* Vitamin B6: No effects on alcohol metabolism, peak blood alcohol and glucose concentrations have been found and psychomotor function is not significantly improved when using Vitamin B6 supplements.[38]
* Caffeinated drinks: No significant correlation between caffeine use and hangover severity has been found.[55]
## Epidemiology[edit]
Hangovers occur commonly.
* A 1990 study of students at a rural New England university found that 25% had experienced a hangover in the previous week and 29% reported losing school time for hangover recovery.[24][56]
* Fifteen percent of men and women who have consumed alcohol experience hangovers at least monthly and 10% of British men reported hangover-related problems at work at least monthly.[24]
* An estimated 9.23% (11.6 million workers) of the U.S. labor force work with a hangover.[57]
* About 23% of drinkers do not report any hangover after drinking to intoxication.[11]
## Society and culture[edit]
A somewhat dated French idiomatic expression for hangover is "mal aux cheveux", literally "sore hair" (or "[even] my hair hurts").[58] In the 19th century United States, a hangover was sometimes called a Katzenjammer from the German for "screeching cats".[58] Some terms for 'hangover' are derived from names for liquor, for example, in Chile a hangover is known as a caña[59] from a Spanish slang term for a glass of beer.[60] Similar is the Irish 'brown bottle flu' derived from the type of bottle common to beer.[61]
Alcohol hangover has considerable economic consequences. A British study found that alcohol use accounted for 3.3 billion (USD) in lost wages each year, as a result of work missed because of hangovers. In Canada 1.4 billion (USD) is lost each year because of decreased occupational productivity caused by hangover-like symptoms. In Finland, a country with a population of 5 million persons, over 1 million workdays are lost each year because of hangovers. The average annual opportunity cost due to hangovers are estimated as 2000 (USD) per working adult.[24] The socioeconomic implications of an alcohol hangover include workplace absenteeism, impaired job performance, reduced productivity and poor academic achievement. Potentially dangerous daily activities such as driving a car or operating heavy machinery are also negatively influenced.[5]
In mid-2017, it was reported that one company in the UK allows sick days when hung over.[62]
## Research[edit]
Psychological research of alcohol hangover is growing rapidly.[citation needed] The Alcohol Hangover Research Group had its inaugural meeting in June 2010 as part of the Research Society on Alcoholism (RSA) 33rd Annual Scientific Meeting in San Antonio, Texas, USA.[citation needed]
In 2012, Éduc'alcool, a Quebec-based non-profit organization that aims to educate the public on the responsible use of alcohol, published a report noting hangovers have long-lasting effects that inhibit the drinker's capabilities a full 24 hours after heavy drinking.[63]
## See also[edit]
* Auto-brewery syndrome
* Comedown (drugs)
* Food drunk
## References[edit]
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## External links[edit]
Classification
D
* ICD-10: G44.83, F10
External resources
* MedlinePlus: 002041
Look up hangover or veisalgia in Wiktionary, the free dictionary.
Wikimedia Commons has media related to Hangover.
* Hangovers Factsheet NIAAA, March, 2019, retrieved 17 May 2019.
* "Alcohol Hangover: Mechanisms and Mediators" [PDF] by Robert Swift, M.D., Ph.D. and Dena Davidson, Ph.D., NIAAA Alcohol Health and Research World, 14 January 2002, retrieved 22 November 2004.
* "The party's over: Advice on treating hangovers" by Dr. Thomas Stuttaford, The Times, 13 December 2004 retrieved 24 August 2005. A colorful article on hangovers, their cause and treatment along with reference to famous Soho residents, such as Jeffrey Bernard, Dylan Thomas, and Francis Bacon.
* v
* t
* e
Psychoactive substance-related disorder
General
* SID
* Substance intoxication / Drug overdose
* Substance-induced psychosis
* Withdrawal:
* Craving
* Neonatal withdrawal
* Post-acute-withdrawal syndrome (PAWS)
* SUD
* Substance abuse / Substance-related disorders
* Physical dependence / Psychological dependence / Substance dependence
Combined
substance use
* SUD
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Caffeine
* SID
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* Amphetamine dependence
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solvent
* SID
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* SUD
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* v
* t
* e
Headache
Primary
ICHD 1
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ICHD 2
* Tension
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ICHD 3
* Cluster
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* SUNCT
ICHD 4
* Hemicrania continua
* Thunderclap headache
* Sexual headache
* New daily persistent headache
* Hypnic headache
Secondary
ICHD 5
* Migralepsy
ICHD 7
* Ictal headache
* Post-dural-puncture headache
ICHD 8
* Hangover
* Medication overuse headache
ICHD 13
* Trigeminal neuralgia
* Occipital neuralgia
* External compression headache
* Cold-stimulus headache
* Optic neuritis
* Postherpetic neuralgia
* Tolosa–Hunt syndrome
Other
* Vascular
Authority control
* GND: 4339907-1
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Hangover | c0221100 | 29,606 | wikipedia | https://en.wikipedia.org/wiki/Hangover | 2021-01-18T19:06:54 | {"icd-10": ["G44.83", "F10.0"], "wikidata": ["Q207334"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant retinitis pigmentosa-79 (RP79) is caused by heterozygous mutation in the HK1 gene (142600) on chromosome 10q22.
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Clinical Features
Sullivan et al. (2014) studied a large 6-generation family (UTAD003) segregating autosomal dominant retinitis pigmentosa (adRP). The retinal dystrophy in the family could be traced back to an Acadian ancestor in the early 1800s, who was from the same region of south-central Louisiana where the family still lived. Affected members of the family exhibited a highly variable phenotype, with some reporting night blindness and/or patchy vision from early childhood, whereas others did not have discernible symptoms until well into the sixth or seventh decade of life. Bone spicules, attenuated blood vessels, optic disc pallor, and peripheral atrophy were commonly seen on funduscopy. Many affected family members experienced a slow rate of vision loss and had a more pericentral pattern of degeneration and pigment deposition; 1 asymptomatic 52-year-old man showed only mild retinal changes on examination. Sullivan et al. (2014) also described patients from 4 more families with adRP, 2 from the Acadian population in Louisiana (UTAD936 and UTAD952), 1 French Canadian (MOGL1), and 1 Sicilian (MOGL2), who all carried the same HK1 mutation as patients in family UTAD003 (see MOLECULAR GENETICS). The 56-year-old female proband from family UTAD936, who was diagnosed at age 24 years, had visual fields limited to 10 degrees in all meridians, surrounded by extensive scotomas, but retained sizeable full-field electroretinographic (ERG) responses. In contrast, the 51-year-old male proband from family UTAD952, who was diagnosed as a young adult, had visual fields reduced to 30 degrees with parafoveal scotomas and undetectable responses on full-field ERGs. Both showed vessel attenuation and extensive peripheral bone spicule pigment in each eye. In family MOGL1, the father exhibited central areolar choroidal dystrophy (CACD; see 215500), whereas his 2 affected sons had pericentral RP, with striking asymmetry between the eyes. Optical coherence tomography (OCT) showed subretinal debris, with material in the inner retina. None of the affected individuals in the 5 families had extraocular manifestations, and no systemic abnormalities on glycolysis were detected.
Wang et al. (2014) reported a large 4-generation family of northern European ancestry in which 18 of 44 members had RP. Onset of reduction in night and peripheral vision ranged from age 5 to 23 years, and disease severity varied from mild pigmentary changes to severe retinal pigment epithelium (RPE) and retinal degeneration. In addition, there was concomitant cone photoreceptor degeneration in older patients, manifested by photophobia, color vision changes, and decreased central vision. Funduscopy in the proband showed typical bone spicule pigmentation and extensive retinal and RPE atrophy, as well as an abrupt border of chorioretinal degeneration outside the posterior pole, sclerosis of choroidal vessels, and pigmentary changes in the macula. Affected individuals showed no signs of anemia, exercise intolerance, or cognitive defects.
Inheritance
In the family with RP79 reported by Wang et al. (2014), the inheritance pattern was autosomal dominant with incomplete penetrance.
Mapping
Sullivan et al. (2014) performed genomewide linkage analysis in a 6-generation family with RP and obtained a lod score greater than 3.0 in only a single 9-Mb chromosomal region at 10q21.3-q22.1. A maximum lod score of 6.2 (at theta = 0) was obtained when the HK1 mutation segregating with disease in the family (E847K; see MOLECULAR GENETICS) was analyzed as a marker at 10q22.1. Recombination events in additional families carrying the same HK1 mutation narrowed the critical interval to 55 kb between rs41279656 and D10S1742.
By genomewide linkage analysis in a large 4-generation family with RP, Wang et al. (2014) identified an 8-Mb region on chromosome 10 for which they obtained a peak parametric lod score of 3.5.
Molecular Genetics
In a large 6-generation family with RP mapping to chromosome 10q22, in which affected members were negative for mutation in known retinal degeneration-associated genes, Sullivan et al. (2014) performed whole-exome sequencing and identified a missense mutation in the HK1 gene (E847K; 142600.0005) that segregated fully with disease and was not found in public variant databases. Analysis of the HK1 gene in 487 additional adRP probands revealed 4 more families in which the same E874K mutation segregated with disease. Haplotype analysis in the 5 families demonstrated a shared 450-kb region on chromosome 10 between markers rs41279656 and rs4746930, suggesting a founder mutation.
By whole-exome sequencing in a large 4-generation family with RP mapping to chromosome 10, in which affected members were negative for mutation in known retinal disease-associated genes, Wang et al. (2014) identified heterozygosity for the E847K mutation in the HK1 gene, which segregated with disease in the family with 85% penetrance and was not found in 11,000 in-house exomes. Two asymptomatic family members also carried the mutation; examination at ages 37 and 78 showed unaffected vision and no bone-spicule pigmentation.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Nyctalopia \- Reduced visual fields \- Photophobia (in older patients) \- Color vision changes (in older patients) \- Decreased visual acuity (in older patients) \- Attenuated retinal vessels \- Optic disc pallor \- Bone spicule pigmentation \- Macular atrophy \- Peripheral atrophy \- Bull's-eye maculopathy \- Reduced to extinguished responses on full-field electroretinography \- Subretinal debris on ocular coherence tomography MISCELLANEOUS \- Highly variable intrafamilial phenotype \- Onset of symptoms varies from early childhood to the seventh decade of life MOLECULAR BASIS \- Caused by mutation in the hexokinase 1 gene (HK1, 142600.0005 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| RETINITIS PIGMENTOSA 79 | c0035334 | 29,607 | omim | https://www.omim.org/entry/617460 | 2019-09-22T15:45:47 | {"mesh": ["D012174"], "omim": ["617460"], "orphanet": ["791"]} |
Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT; see this term) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage.
## Epidemiology
About 200 cases have been described in the literature.
## Clinical description
Indicative signs are irregular metrorrhagia some time after spontaneous miscarriage or VTP, presence of metastasis or unexplained metrorrhagia in the weeks and months following normal childbirth or ectopic pregnancy.
## Etiology
Etiology is unknown.
## Diagnostic methods
Chorionic gonadotropin (hCG) levels are usually low at about 10 to 100 IU/l (N < 2 to 5 IU/l). Histologically, the myometrium is invaded by intermediate trophoblastic cells without chorionic villi and containing human placental lactogen hormone (hPL). Tissue necrosis is absent and hemorrhage is mild.
## Management and treatment
Total hysterectomy is the basic treatment option.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Placental site trophoblastic tumor | c0206666 | 29,608 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99928 | 2021-01-23T17:07:00 | {"mesh": ["D018245"], "umls": ["C0206666"], "icd-10": ["D39.2"], "synonyms": ["PSST"]} |
Hydranencephaly
Hydrancephaly
Image of a baby with hydranencephaly, light passes through the skull indicating lack of forebrain.
Courtesy of D. P. Agamanolis http://neuropathology-web.org"
SpecialtyMedical genetics
Hydranencephaly[1] is a condition in which the brain's cerebral hemispheres are absent to a great degree and the remaining cranial cavity is filled with cerebrospinal fluid.[2]
Hydranencephaly[3] is a type of cephalic disorder. These disorders are congenital conditions that derive from either damage to, or abnormal development of, the fetal nervous system in the earliest stages of development in utero. Cephalic is the scientific term for "head" or "head end of body". These conditions do not have any definitive identifiable cause factor; instead generally attributed to a variety of hereditary or genetic conditions, but also by environmental factors such as maternal infection, pharmaceutical intake, or even exposure to high levels of radiation.[4]
This should not be confused with hydrocephalus, which is an accumulation of excess cerebrospinal fluid in the ventricles of the brain.
In hemihydranencephaly, only half of the cranial cavity is affected.[5]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Genetic
* 2.2 Post-natal brain injury
* 3 Diagnosis
* 4 Prognosis
* 5 Occurrence
* 6 See also
* 7 References
* 8 External links
## Signs and symptoms[edit]
An infant with hydranencephaly may appear normal at birth or may have some distortion of the skull and upper facial features due to fluid pressure inside the skull. The infant's head size and spontaneous reflexes such as sucking, swallowing, crying, and moving the arms and legs may all seem normal, depending on the severity of the condition. However, after a few weeks the infant sometimes becomes irritable and has increased muscle tone (hypertonia). After several months of life, seizures and hydrocephalus may develop, if they did not exist at birth. Other symptoms may include visual impairment, lack of growth, deafness, blindness, spastic quadriparesis (paralysis), and intellectual deficits.[citation needed]
Some infants may have additional abnormalities at birth including seizures, myoclonus (involuntary sudden, rapid jerks), limited thermoregulation abilities, and respiratory problems. Still other infants display no obvious symptoms at birth, going many months without a confirmed diagnosis of hydranencephaly. In some cases severe hydrocephalus, or other cephalic condition, is misdiagnosed.[citation needed]
## Causes[edit]
Hydranencephaly is an extreme form of porencephaly, which is characterized by a cyst or cavity in the cerebral hemispheres.[citation needed]
Although the exact cause of hydranencephaly remains undetermined in most cases, the most likely general cause is by vascular insult such as stroke or injury, intrauterine infections, or traumatic disorders after the first trimester of pregnancy. In a number of cases where intrauterine infection was determined the causing factor, most involved toxoplasmosis and viral infections such as enterovirus, adenovirus, parvovirus, cytomegalic, herpes simplex, Epstein-Barr, and syncytial viruses. Another cause factor is determined to be monochorionic twin pregnancies, involving the death of one twin in the second trimester, which in turn causes vascular exchange to the living twin through placental circulation through twin-to-twin transfusion, causing hydranencephaly in the surviving fetus.[6] One medical journal reports hydranencephaly as an autosomal inherited disorder with an unknown mode of transmission, where an unknown blockage of the carotid artery where it enters the cranium causes obstruction and damage to the cerebral cortex.[3]
### Genetic[edit]
As a recessive genetic condition, both parents must carry the asymptomatic gene and pass it along to their child, a chance of 25 percent. Genetic hydranencephaly afflicts both males and females in equal numbers.[citation needed]
### Post-natal brain injury[edit]
Though hydranencephaly is typically a congenital disorder, it can occur as a postnatal diagnosis in the aftermath of meningitis, intracerebral infarction, and ischemia (stroke), or other traumatic brain injury.[7]
## Diagnosis[edit]
Diagnosis may be delayed for several months because the infant's early behavior appears to be relatively normal. Transillumination, an examination in which light is passed through body tissues, can be used to diagnose hydranencephaly. An accurate, confirmed diagnosis is generally impossible until after birth, though prenatal diagnosis using fetal ultrasonography (ultrasound) can identify characteristic physical abnormalities that exist. Through thorough clinical evaluation, via physical findings, detailed patient history, and advanced imaging techniques, such as angiogram, computerized tomography (CT scan), magnetic resonance imaging (MRI), or more rarely transillumination after birth are the most accurate diagnostic techniques.[3] However, diagnostic literature fails to provide a clear distinction between severe obstructive hydrocephalus and hydranencephaly, leaving some children with an unsettled diagnosis.[7]
Preliminary diagnosis may be made in utero via standard ultrasound, and can be confirmed with a standard anatomy ultrasound. This sometimes proves to provide a misdiagnosis of differential diagnoses including bilaterally symmetric schizencephaly (a less destructive developmental process on the brain), severe hydrocephalus (cerebrospinal fluid excess within the skull), and alobar holoprosencephaly (a neurological developmental anomaly). Once destruction of the brain is complete, the cerebellum, midbrain, thalami, basal ganglia, choroid plexus, and portions of the occipital lobes typically remain preserved to varying degrees. Though the cerebral cortex is absent, in most cases the fetal head remains enlarged due to the continued production by the choroid plexus of cerebrospinal fluid that is inadequately reabsorbed causing increased intracranial pressure.[6]
## Prognosis[edit]
There is no standard treatment for hydranencephaly. Treatment is symptomatic and supportive. An accompanying diagnosis of hydrocephalus may be treated with surgical treatment of a shunt, which often grants a much better prognosis and greater quality of life.[8]
The prognosis for children with hydranencephaly is generally quite poor. Death is reported to often occur within the first year of life,[9] but many children live several years, even in to adulthood (with one reported case dying at 19[10]).
## Occurrence[edit]
This condition affects under 1 in 10,000 births worldwide.[6] Hydranencephaly is a rare disorder in the United States, which is defined as affecting fewer than 1 in 250,000.[11]
## See also[edit]
* Microhydranencephaly
## References[edit]
1. ^ Kandel, Eric R. (2013). Principles of neural science (5. ed.). Appleton and Lange: McGraw Hill. p. 1020. ISBN 978-0-07-139011-8.
2. ^ "Hydranencephaly: Definition, Information, Diagnosis & Prognosis". Retrieved 24 February 2018.
3. ^ a b c National Organization for Rare Disorders. "Hydranencephaly". Rare Diseases Information.[permanent dead link]
4. ^ National Institute of Neurological Conditions and Stroke, NINDS. "Hydranencephaly Information Page". Disorders. Archived from the original on 2016-12-02. Retrieved 2011-06-19.
5. ^ Ulmer S, Moeller F, Brockmann MA, Kuhtz-Buschbeck JP, Stephani U, Jansen O (2005). "Living a normal life with the nondominant hemisphere: magnetic resonance imaging findings and clinical outcome for a patient with left-hemispheric hydranencephaly". Pediatrics. 116 (1): 242–5. doi:10.1542/peds.2004-0425. PMID 15995064. S2CID 45671819.
6. ^ a b c Kurtz & Johnson, Alfred & Pamela. "Case Number 7: Hydranencephaly". Radiology, 210, 419-422.
7. ^ a b Dubey, AK Lt Col. "Is it Hydranencephaly-A Variant?" (PDF). MJAFI 2002; 58:338-339. Archived from the original (PDF) on 2014-04-02. Retrieved 2011. Check date values in: `|accessdate=` (help)
8. ^ "Everything Guide to Children with Hydranencephaly" by Brayden Alexander Global Foundation for Hydranencephaly, Incorporated.
9. ^ McAbee GN, Chan A, Erde EL (2000). "Prolonged survival with hydranencephaly: report of two patients and literature review" (PDF). Pediatr. Neurol. 23 (1): 80–4. doi:10.1016/S0887-8994(00)00154-5. PMID 10963978.
10. ^ Deiker, Thomas; Bruno, Ralph D. "Sensory Reinforcement of Eyeblink Rate in a Decorticate Human", American Journal of Mental Deficiency, 80, 6, 665-7, May 1976
11. ^ Rare Disease Day: February 28. "What is a Rare Disease?". Rare Disease. Retrieved 2011. Check date values in: `|accessdate=` (help)
## External links[edit]
* Hydranencephaly at NINDS
Classification
D
* ICD-10: Q04.3
* ICD-9-CM: 742.3
* MeSH: D006832
* DiseasesDB: 31516
External resources
* eMedicine: radio/351
* Orphanet: 2177
* v
* t
* e
Congenital malformations and deformations of nervous system
Brain
Neural tube defect
* Anencephaly
* Acephaly
* Acrania
* Acalvaria
* Iniencephaly
* Encephalocele
* Chiari malformation
Other
* Microcephaly
* Congenital hydrocephalus
* Dandy–Walker syndrome
* other reduction deformities
* Holoprosencephaly
* Lissencephaly
* Microlissencephaly
* Pachygyria
* Hydranencephaly
* Septo-optic dysplasia
* Megalencephaly
* Hemimegalencephaly
* CNS cyst
* Porencephaly
* Schizencephaly
* Polymicrogyria
* Bilateral frontoparietal polymicrogyria
Spinal cord
Neural tube defect
* Spina bifida
* Rachischisis
Other
* Currarino syndrome
* Diastomatomyelia
* Syringomyelia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Hydranencephaly | c0020225 | 29,609 | wikipedia | https://en.wikipedia.org/wiki/Hydranencephaly | 2021-01-18T18:32:57 | {"gard": ["6681"], "mesh": ["D006832"], "umls": ["C0020225"], "icd-9": ["742.3"], "orphanet": ["2177"], "wikidata": ["Q2565270"]} |
Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face; neck; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual. As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur.
Nemaline myopathy is divided into six types. In order of decreasing severity, the types are: severe congenital, Amish, intermediate congenital, typical congenital, childhood-onset, and adult-onset. The types are distinguished by the age when symptoms first appear and the severity of symptoms; however, there is overlap among the various types. The severe congenital type is the most life-threatening. Most individuals with this type do not survive past early childhood due to respiratory failure. The Amish type solely affects the Old Order Amish population of Pennsylvania and is typically fatal in early childhood. The most common type of nemaline myopathy is the typical congenital type, which is characterized by muscle weakness and feeding problems beginning in infancy. Most of these individuals do not have severe breathing problems and can walk unassisted. People with the childhood-onset type usually develop muscle weakness in adolescence. The adult-onset type is the mildest of all the various types. People with this type usually develop muscle weakness between ages 20 and 50.
## Frequency
Nemaline myopathy has an estimated incidence of 1 in 50,000 individuals.
## Causes
Mutations in one of many genes can cause nemaline myopathy. These genes provide instructions for producing proteins that play important roles in skeletal muscles. Within skeletal muscle cells, these proteins are found in structures called sarcomeres. Sarcomeres are necessary for muscles to tense (contract). Many of the proteins associated with nemaline myopathy interact within the sarcomere to facilitate muscle contraction. When the skeletal muscle cells of people with nemaline myopathy are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells contain rod-like structures called nemaline bodies.
Most cases of nemaline myopathy with a known genetic cause result from mutations in one of two genes, NEB or ACTA1. NEB gene mutations account for about 50 percent of all cases of nemaline myopathy and ACTA1 gene mutations account for 15 to 25 percent of all cases. When nemaline myopathy is caused by NEB gene mutations, signs and symptoms are typically present at birth or beginning in early childhood. When nemaline myopathy is caused by ACTA1 gene mutations, the condition's severity and age of onset vary widely. Mutations in the other genes associated with nemaline myopathy each account for only a small percentage of cases.
Mutations in any of the genes associated with nemaline myopathy lead to disorganization of the proteins found in the sarcomeres of skeletal muscles. The disorganized proteins cannot interact normally, which disrupts muscle contraction. Inefficient muscle contraction leads to muscle weakness and the other features of nemaline myopathy.
Some individuals with nemaline myopathy do not have an identified mutation. The genetic cause of the disorder is unknown in these individuals.
### Learn more about the genes associated with Nemaline myopathy
* ACTA1
* NEB
* TPM2
* TPM3
Additional Information from NCBI Gene:
* CFL2
* KBTBD13
* KLHL40
* KLHL41
* LMOD3
* TNNT1
## Inheritance Pattern
Nemaline myopathy is usually 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.
Less often, this condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Nemaline myopathy | c1836448 | 29,610 | medlineplus | https://medlineplus.gov/genetics/condition/nemaline-myopathy/ | 2021-01-27T08:25:07 | {"gard": ["12033"], "mesh": ["C538348"], "omim": ["609284", "616165", "256030", "161800", "609285", "605355", "609273", "610687", "615348", "615731"], "synonyms": []} |
Macrotia
SpecialtyMedical genetics, ENT surgery
Macrotia refers to an ear which is larger than would be expected.[1] The normal auricular axis length is 58–62 mm among females and 62–66 mm among males.[2] The average width of an adult ear, specifically the distance between the helix root (inner front edge) and the posterior auricle (outer front edge), is between 30 and 45 mm.[3]
## Treatment for Macrotia[edit]
Macrotia is an external ear malformation and is not known to cause any hearing impairment on its own, although it may occasionally occur simultaneously with other developmental disorders that do affect hearing.[4] Treatment is typically not necessary, although patients may seek cosmetic treatment. In some cases, surgery (otoplasty) is performed to reduce the ear size.[5][6] While generally considered a cosmetic procedure, otoplasty for macrotia can improve overall quality of life, especially for young patients who may be able to avoid reduced self-esteem and social avoidance behavior due to large ears.[7] Otoplasty for macrotia typically focuses on reducing the size of the scapha, which is the concave region of the ear between the helix and antihelix ridge, while preserving ear shape and contour.[8]
## References[edit]
1. ^ "Macrotia" at Dorland's Medical Dictionary
2. ^ Bray Jr D. "Macrotia Ear Reductions". Retrieved December 28, 2011.
3. ^ Brucker MJ, Patel J, Sullivan PK (August 2003). "A morphometric study of the external ear: age- and sex-related differences". Plastic and Reconstructive Surgery. 112 (2): 647–52, discussion 653–4. doi:10.1097/01.prs.0000070979.20679.1f. PMID 12900628.
4. ^ Braun T, Hempel JM, Berghaus A (February 2014). "Developmental disorders of the ear in children and adolescents: conservative and surgical treatment options". Deutsches Ärzteblatt International (in German). 111 (6): 92–8. doi:10.3238/arztebl.2014.0092. PMC 3953996. PMID 24622605.
5. ^ Tuncer S, Demir Y, Atabay K (April 2010). "A simple surgical technique for correction of macrotia with poorly defined helical fold". Aesthetic Plastic Surgery. 34 (2): 136–40. doi:10.1007/s00266-008-9268-x. PMID 19030922. S2CID 38146898.
6. ^ Yuen A, Coombs CJ (2006). "Reduction otoplasty: correction of the large or asymmetric ear". Aesthetic Plastic Surgery. 30 (6): 675–8. doi:10.1007/s00266-006-0119-3. PMID 17077956. S2CID 20219520.
7. ^ Horlock N, Vögelin E, Bradbury ET, Grobbelaar AO, Gault DT (May 2005). "Psychosocial outcome of patients after ear reconstruction: a retrospective study of 62 patients". Annals of Plastic Surgery. 54 (5): 517–24. doi:10.1097/01.sap.0000155284.96308.32. PMID 15838214.
8. ^ Hilinski J (July 1, 2020). "Macrotia Ear Reduction Surgery". www.drhilinski.com. Retrieved 2020-07-01.
## External links[edit]
Classification
D
* ICD-10: Q17.1
* ICD-9-CM: 744.22
External resources
* eMedicine: plastic/454
* v
* t
* e
Congenital malformations and deformations of ears
Size
* Macrotia
* Microtia
* Anotia
Position
* Low-set ears
Other
* Accessory auricle
* Mondini dysplasia
This article about a disease of the ear and mastoid process is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Macrotia | c0152421 | 29,611 | wikipedia | https://en.wikipedia.org/wiki/Macrotia | 2021-01-18T18:39:39 | {"icd-9": ["744.22"], "icd-10": ["Q17.1"], "wikidata": ["Q3842198"]} |
Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Free sialic acid storage disease | c0342853 | 29,612 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=834 | 2021-01-23T18:04:39 | {"gard": ["10870"], "mesh": ["C538523", "D029461"], "omim": ["269920", "604369"], "umls": ["C0342853", "C2931872"], "icd-10": ["E77.8"]} |
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: "Chyloderma" – news · newspapers · books · scholar · JSTOR (March 2020) (Learn how and when to remove this template message)
lymphatic system is blocked causing a buildup of lymphatic fluid in the scrotum
Chyloderma is swelling of the scrotum resulting from chronic lymphatic obstruction. Obstruction may be caused by a nematode such as Wuchereria bancrofti. This condition is also known as lymphscrotum or elephantiasis scroti.
## See also[edit]
Life cycle of Wuchereria bancrofti, a parasite that causes lymphatic filariasis
* Filariasis
* Lymphatic system
* v
* t
* e
Male reproductive system
Internal
Seminal tract
Testes
* layers
* Tunica vaginalis
* Tunica albuginea
* Tunica vasculosa
* Appendix
* Mediastinum
* Lobules
* Septa
* Leydig cell
* Sertoli cell
* Blood–testis barrier
Spermatogenesis
* Spermatogonium
* Spermatocytogenesis
* Spermatocyte
* Spermatidogenesis
* Spermatid
* Spermiogenesis
* Spermatozoon
Other
* Seminiferous tubules
* Tubuli seminiferi recti
* Rete testis
* Efferent ducts
* Epididymis
* Appendix
* Inferior Ligament
* Superior Ligament
* Stereocilia
* Paradidymis
* Spermatic cord
* Vas deferens
* Ampulla
* Ejaculatory duct
Accessory glands
* Seminal vesicles
* excretory duct
* Prostate
* Urethral crest
* Seminal colliculus
* Ejaculatory duct
* sinus
* ducts
* utricle
* evolution in monotremes
* Bulbourethral glands
External
Penis
* root
* Crus
* Bulb
* Fundiform ligament
* Suspensory ligament
* body
* Corpus cavernosum
* Corpus spongiosum
* glans
* Foreskin
* Frenulum
* Corona
* fascia
* superficial
* deep
* Tunica albuginea
* Septum of the penis
Urinary tract
* Internal urethral orifice
* Urethra
* Prostatic
* Intermediate
* Spongy
* Navicular fossa
* External urethral orifice
* Lacunae of Morgagni
* Urethral gland
Scrotum
* layers
* skin
* Dartos
* External spermatic fascia
* Cremaster
* Cremasteric fascia
* Internal spermatic fascia
* Perineal raphe
* Scrotal septum
This article about a disease of the genitourinary system is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Chyloderma | c1997700 | 29,613 | wikipedia | https://en.wikipedia.org/wiki/Chyloderma | 2021-01-18T19:09:47 | {"umls": ["C1997700"], "wikidata": ["Q5118576"]} |
Severe hemophilia B is a form of hemophilia B (see this term) characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
## Epidemiology
Severe hemophilia B accounts for around 40% of all cases of hemophilia B.
## Clinical description
The biological activity of factor IX is below 1%.
## Etiology
The disorder is caused by mutations in the F9 gene (Xq28) encoding coagulation factor IX.
## Genetic counseling
Transmission is X-linked recessive.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Severe hemophilia B | c0008533 | 29,614 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=169793 | 2021-01-23T17:10:20 | {"mesh": ["D002836"], "omim": ["306900"], "icd-10": ["D67"], "synonyms": ["Severe factor IX deficiency"]} |
FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.
## Epidemiology
Prevalence is unknown.
## Etiology
The FRAXF fragile site is located at Xq28 within the 5'UTR of the TMEM185A gene.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| FRAXF syndrome | c4274329 | 29,615 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100974 | 2021-01-23T18:04:37 | {} |
This article relies largely or entirely on a single source. Relevant discussion may be found on the talk page. Please help improve this article by introducing citations to additional sources.
Find sources: "Mixed-cell lymphoma" – news · newspapers · books · scholar · JSTOR (May 2010)
Mixed-cell lymphoma
SpecialtyOncology
Mixed-cell lymphomas are lymphomas that have both large cells and small cells in them.[citation needed] This nomenclature is derived from an older system of pathology, before technological advances allowed much more precise descriptions of the affected cancerous cells.
In MeSH, the phrase "mixed-cell lymphoma" is currently classified under non-Hodgkin lymphoma.[1]
## References[edit]
1. ^ Mixed+cell+lymphoma at the US National Library of Medicine Medical Subject Headings (MeSH)
## External links[edit]
Classification
D
* MeSH: D008228
This article about a neoplasm is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Mixed-cell lymphoma | c0024304 | 29,616 | wikipedia | https://en.wikipedia.org/wiki/Mixed-cell_lymphoma | 2021-01-18T18:40:22 | {"mesh": ["D008228"], "wikidata": ["Q6883839"]} |
Megarbane et al. (2006) reported a consanguineous Lebanese family in which 2 cousins had severe scoliosis with multiple other skeletal anomalies and retinitis pigmentosa. Both individuals had postnatal short stature, short neck, rhizomelic shortening of the limbs, particularly the upper limbs. and strabismus. Radiographic findings included short humeri, prominent deltoid tuberosities of the humeri, short and wide ribs and clavicles, biconcave vertebral bodies of the thoracolumbar spine, and narrowed lumbar canal. One patient had amelogenesis imperfecta. There was no bone age delay, and intelligence was normal. Megarbane et al. (2006) distinguished the disorder in this family from other syndromes with skeletal dysplasia and eye abnormalities.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature, postnatal HEAD & NECK Eyes \- Retinitis pigmentosa \- Photophobia \- Decreased visual acuity \- Strabismus Teeth \- Amelogenesis imperfecta (in 1 patient) Neck \- Short neck CHEST Ribs Sternum Clavicles & Scapulae \- Short ribs \- Wide ribs \- Short clavicles \- Wide clavicles SKELETAL \- Normal bone age Spine \- Scoliosis, severe \- Biconcave vertebral bodies \- Narrowed lumbar canal Pelvis \- Irregular sacro-iliac joints Limbs \- Rhizomelic shortening of the long bones, particularly the upper limbs \- Short humeri \- Prominent deltoid tuberosities \- Short distal ulnae \- Sloping epiphyses of the radii \- Short femoral necks ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA | c1853197 | 29,617 | omim | https://www.omim.org/entry/610319 | 2019-09-22T16:04:43 | {"mesh": ["C537610"], "omim": ["610319"]} |
A number sign (#) is used with this entry because of evidence that Cowden syndrome-4 (CWS4) is caused by heterozygous germline hypermethylation of the KLLN gene (612105) on chromosome 10q23.
For a general phenotypic description and a discussion of genetic heterogeneity of Cowden syndrome, see CWS1 (158350).
Molecular Genetics
The KLLN gene on chromosome 10q23.31 shares the same transcription site as the PTEN (601728) gene, but is transcribed in the opposite direction. Killin is necessary and sufficient for TP53 (191170)-induced apoptosis. Among 123 patients with a clinical diagnosis of Cowden or Cowden-like syndrome without germline PTEN, SDHB (185470), or SDHD (602690) mutations, Bennett et al. (2010) found that 45 (37%) had germline hypermethylation and epigenetic inactivation of the KILLIN promoter. Of the 45 patients, 20 had classic Cowden syndrome, and 25 had Cowden-like syndrome. Hypermethylation of this region was not observed in 50 controls. One proband had a family history of the disorder, and genetic analysis showed that 3 of the 4 affected family members also had germline methylation in this region. Germline methylation was found to transcriptionally downregulate KLLN expression 250-fold, and exclusively disrupted TP53 activation of KLLN by 30%. Analysis of clinical features showed that individuals with KLLN promoter methylation had a 3-fold increased prevalence of breast cancer and a greater than 2-fold increase of kidney cancer compared to individuals with germline PTEN mutations. Bennett et al. (2010) emphasized that the findings needed to be replicated.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| COWDEN SYNDROME 4 | c0018553 | 29,618 | omim | https://www.omim.org/entry/615107 | 2019-09-22T15:53:13 | {"mesh": ["D006223"], "omim": ["615107"], "orphanet": ["201"]} |
WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability (formerly referred to as mental retardation).
People with WAGR syndrome have a 45 to 60 percent chance of developing Wilms tumor, a rare form of kidney cancer. This type of cancer is most often diagnosed in children but is sometimes seen in adults.
Most people with WAGR syndrome have aniridia, an absence of the colored part of the eye (the iris). This can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). Aniridia is typically the first noticeable sign of WAGR syndrome. Other eye problems may also develop, such as clouding of the lens of the eyes (cataracts), increased pressure in the eyes (glaucoma), and involuntary eye movements (nystagmus).
Abnormalities of the genitalia and urinary tract (genitourinary anomalies) are seen more frequently in males with WAGR syndrome than in affected females. The most common genitourinary anomaly in affected males is undescended testes (cryptorchidism). Females may not have functional ovaries and instead have undeveloped clumps of tissue called streak gonads. Females may also have a heart-shaped (bicornate) uterus, which makes it difficult to carry a pregnancy to term.
Another common feature of WAGR syndrome is intellectual disability. Affected individuals often have difficulty processing, learning, and properly responding to information. Some individuals with WAGR syndrome also have psychiatric or behavioral problems including depression, anxiety, attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), or a developmental disorder called autism spectrum disorder that affects communication and social interaction.
Other signs and symptoms of WAGR syndrome can include childhood-onset obesity, inflammation of the pancreas (pancreatitis), and kidney failure. When WAGR syndrome includes childhood-onset obesity, it is often referred to as WAGRO syndrome.
## Frequency
The prevalence of WAGR syndrome ranges from 1 in 500,000 to one million individuals. It is estimated that one-third of people with aniridia actually have WAGR syndrome. Approximately 7 in 1,000 cases of Wilms tumor can be attributed to WAGR syndrome.
## Causes
WAGR syndrome is caused by a deletion of genetic material on the short (p) arm of chromosome 11. The size of the deletion varies among affected individuals.
The signs and symptoms of WAGR syndrome are related to the loss of multiple genes on the short arm of chromosome 11. WAGR syndrome is often described as a contiguous gene deletion syndrome because it results from the loss of several neighboring genes. The PAX6 and WT1 genes are always deleted in people with the typical signs and symptoms of this disorder. Because changes in the PAX6 gene can affect eye development, researchers think that the loss of the PAX6 gene is responsible for the characteristic eye features of WAGR syndrome. The PAX6 gene may also affect brain development. Wilms tumor and genitourinary abnormalities are often the result of mutations in the WT1 gene, so deletion of the WT1 gene is very likely the cause of these features in WAGR syndrome.
In people with WAGRO syndrome, the chromosome 11 deletion includes an additional gene, BDNF. This gene is active (expressed) in the brain and plays a role in the survival of nerve cells (neurons). The protein produced from the BDNF gene is thought to be involved in the management of eating, drinking, and body weight. Loss of the BDNF gene is likely responsible for childhood-onset obesity in people with WAGRO syndrome. People with WAGRO syndrome may be at greater risk of neurological problems such as intellectual disability and autism than those with WAGR syndrome. It is unclear whether this increased risk is due to the loss of the BDNF gene or other nearby genes.
Research is ongoing to identify additional genes deleted in people with WAGR syndrome and to determine how their loss leads to the other features of the disorder.
### Learn more about the genes and chromosome associated with WAGR syndrome
* BDNF
* PAX6
* WT1
* chromosome 11
## Inheritance Pattern
Most cases of WAGR syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.
Some affected individuals inherit a chromosome 11 with a deleted segment from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with WAGR syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 11, which results in an increased risk of Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| WAGR syndrome | c0206115 | 29,619 | medlineplus | https://medlineplus.gov/genetics/condition/wagr-syndrome/ | 2021-01-27T08:25:48 | {"gard": ["5528"], "mesh": ["D017624"], "omim": ["194072", "612469"], "synonyms": []} |
Hereditary gingival fibromatosis
Other namesAutosomal dominant gingival hyperplasia, idiopathic gingival hyperplasia
SpecialtyDentistry
Hereditary gingival fibromatosis (HGF), also known as idiopathic gingival hyperplasia, is a rare condition of gingival overgrowth.[1] HGF is characterized as a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of keratinized gingiva. It can cover teeth in various degrees, and can lead to aesthetic disfigurement.[2] Fibrous enlargement is most common in areas of maxillary and mandibular tissues of both arches in the mouth.[1] Phenotype and genotype frequency of HGF is 1:175,000 where males and females are equally affected but the cause is not entirely known.[2][3] It mainly exists as an isolated abnormality but can also be associated with a multi-system syndrome.[1]
## Contents
* 1 Signs and symptoms
* 1.1 Obvious signs
* 2 Cause
* 2.1 Genetic
* 2.2 Non genetic
* 3 Mechanism
* 4 Diagnosis
* 5 Prevention
* 6 Treatment
* 6.1 If left untreated
* 6.2 Treatment
* 7 Recent research
* 8 See also
* 9 References
* 10 External links
## Signs and symptoms[edit]
There may or may not be any evidence of history of HGF in the family nor any usage of taking long-term medicines for any particular disease when it comes to diagnosing HGF. There also may or may not be any signs of medical and/or family history of mental retardation, hypertrichosis, nor clinical symptoms that can be associated with gingival enlargement. Although, enlargement of gingiva, interdental papilla, hindered speech, and secondary inflammatory changes taking place in the mouth commonly at the marginal gingiva are all very indicative of this condition. Commonly the patient will have mandibular and maxilliary inflammation and overgrowth as opposed to the traditional pink, firm, and fleshy consistency of healthy gingiva. The patient's jaw may also appear distorted because of the gingiva enlargements. Overgrowth of the gingiva can range from slightly covering the surface of teeth or it can even completely cover the surrounding teeth. The patient can also experience damage or loss of teeth.[1][2][3][4][5][6][7][8][9][10][11][12]
### Obvious signs[edit]
* Most obvious sign is gingival overgrowth (overgrowth of the gums)[1][2][3][4][5][6][7][8][9][10][11][12]
* Hindered chewing efficiency and difficulties eating[1]
* Increasing mobility of teeth[1]
* Abnormally shaped teeth and abnormal movement of teeth[4]
* Inflammation and/or swelling of the gums/gingiva[3][7]
* Not necessarily any signs of pain but experiencing pain is possible[1]
* Difficulties in speaking, oftentimes can lead to speech disorders[1]
* Other dental and oral problems[4]
* In some cases, Hereditary Gingival Fibromatosis may cause bleeding from the gums, or gum ulcerations.
## Cause[edit]
Though much more research needs to be done, researchers have mostly agreed that a mutation in SOS1, son-of-sevenless gene, is responsible for this disease.[1][4][5][6] SOS1 is a guanine nucleotide-exchange factor that functions in the transduction of signals that control cell growth and differentiation. A mutation in the SOS1 gene results in a single nucleotide insertion.[6] Specific linkage studies have localized the mutation for isolated, nonsyndromic autosomal dominant forms of gingival fibromatosis to chromosomes 2 and 5, more specifically 2p21-p22 and 5q13-q22.[1]
### Genetic[edit]
HGF1 - Caused by a mutation in the SOS1 gene localized on chromosome 2p21-p22[1]
HGF2 - Caused by a mutation in the SOS1 gene localized on chromosome 5q13-q22[1][contradictory]
Mutations in the RE1-silencing transcription factor (REST) gene can also cause this syndrome.[13]
### Non genetic[edit]
HGF may also be caused by unwanted side effects of pharmacological agents like phenytoin, ciclosporin, and some calcium-channel blockers, meaning HGF is a disease that can be drug-induced.[1] However, there is little next to no research done in this area to support the claim.
* Inflammation[3][7]
* Hormonal Imbalance[3][7]
* Neoplasia[3][7]
* More commonly associated with an autosomal dominant gene inheritance[2]
* Multi-system syndromes: Zimmerman-Laband syndrome, Jones syndrome, Ramon syndrome, Rutherford syndrome, juvenile hyaline fibromatosis, systemic infantile hyalinosis, and mannosidosis[8]
* Some unknown causes[3][7]
## Mechanism[edit]
Genetic linkage studies are among the most popular methods of study to look at the mechanism of this HGF. Genetic linkage studies have found to localize genetic loci for autosomal dominant forms of HGF to chromosome 2p21-p22 (indicative of HGF1) and chromosome 5q13-q22 (indicative of HGF2). Chromosome 2p21-p22 has been refined to an interval of ∼2.3 Mb to construct an integrated physical and genetic map of the 16 genes interval. Here, a mutation is found in sequencing these 16 genes.[2]
There is an insertion of a cytosine between nucleotides 126,142 and 126,143 in codon 1083 of the SOS1 gene, meaning there is a mutation in SOS1. This causes a problem because SOS1 introduces a frameshift mutation and creates a premature stop codon. Also, it can segregate over generations, most commonly four. Once it causes a premature stop codon, the chromosome loses four important proline-rich SH-3 binding domains in the carboxyl-terminal region of the SOS1 protein. As a result, the N-terminal amino acids for SOS1 is fused into a 22–amino acid carboxyl terminus.[2] Researchers claim that this mutation in the SOS1 gene is a probable primary cause of this disease but limited information supports the mechanism of this claim.
## Diagnosis[edit]
There are very few ways to test a patient for HGF. Currently, the most common way to diagnose a patient is by means of a physical evaluation. The physician can make a physical evaluation of the patient and send them to a dentist or better yet a specialist like a periodontist to evaluate signs of gingival overgrowth, quality of gingiva, inflammation, mechanical difficulties of the mouth, tooth conditions, and any sort of discomfort.[3]
Aside from obvious physical symptoms seen in a physical evaluation, molecular tests can be run to check if there is a mutation in the SOS1 gene to confirm the diagnosis. If there is indeed a mutation in this gene coupled with the typical physical symptoms, then it is quite probable that a patient suffers from this disease. Also, looking at family history is also becoming more prominent in aiding to diagnose the patient. Otherwise, researchers are working to find new and better ways to test for the presence of HGF.[1][2][9]
## Prevention[edit]
Since this condition is generally agreed upon to be hereditary, nothing can be done to prevent HGF. However, in some cases where it can develop as a result of rare multi-system syndromes, such as: Zimmerman-Laband, Jones, Ramon Syndrome, Rutherford Syndrome, Juvenile Hyaline Fibromatosis, Systemic Infantile Hyalinosis, and Mannosidosis, it is best for one to simply monitors the possible progression for HGF with regular dental check-ups.[8]
If the patient's disease is treated by means of surgery, it is recommended that the patient undergoes post-surgical therapies for maintenance and periodic monitoring of gums for the sake of the possibility of re-occurrence of HGF.[8]
## Treatment[edit]
This disease has not been shown to be life-threatening or the cause of death in patients. However, treatment is necessary to maintain a healthy lifestyle.
### If left untreated[edit]
The following can occur if left untreated:
* Too much gingiva exposure
* * Oral morbidity
* * Chronic infection of areas between the gums and teeth, or at the gum line
* * various degrees of Periodontitis \- most likely due to the inability and difficulty of keeping the gingival margin and surrounding tissue clean due to the overgrowth
* * Improper tooth eruption and/or complete prevention of tooth eruption as a result of too much gingiva exposure
* * Systemic every-day troubles including functional and aesthetic problems of the mouth
* * Malocclusion
[2][9][10]
### Treatment[edit]
Most recent methods of treatment take the form of surgeries such as oral prophylaxis, followed by post-surgical therapies to monitor, provide proper oral hygiene, and correct the deformity. Although, the nature of recurrence post-treatment is virtually unknown, let alone what type of treatment is most effective for HGF. (SOURCE 2) In some cases, there is re-growth after surgical removal of the excess gingival tissues, in others there is minimal. No cases yet have shown any particular treatment or form of medicine to permanently remove HGF.[1][2]
One type of procedure that can be executed is as follows: Removal of excess tissue under anesthesia through an internal bevel gingivectomy or undisplaced flap followed by gingivoplasty and continuous sling suture placements and periodontal dressing; after about a week of recovery after the surgery, remove sutures and periodically do observational evaluations to look for any signs of re-occurrence.[1]
## Recent research[edit]
Some researchers suggest that HGF is transmitted as a Mendelian trait since both autosomal dominant and autosomal recessive transmission has been reported since the early 1970s. (SOURCE 1) In more recent scientific literature, there is evidence in which pedigree analyses confirm autosomal dominant, autosomal recessive or even as X-linked inherited cases of the HGF trait.[11][12]
In 2002, researchers described the SOS1 gene and proved for the first time that a single-nucleotide–insertion mutation of the SOS1 gene on codon 1083 is the preliminary cause of HGF1 in humans. (Source 1) Later on in 2010, there was a case study done on a 16-year-old male with severe gingival overgrowth, almost covering all teeth. Researchers approached this issue with periodontics \- a partial gingivectomy and flap surgery. This case study concluded that surgery followed by regular follow-ups is a good way to treat HGF despite the fact that the risks of re-occurrence of the condition remain high.[8]
Even more recently, a study was done in 2013 on a family that showed history of autosomal recessive inheritance of HGF. The study did not dismiss the return of HGF after treatment but did claim that general surgical intervention after scaling and root planning of teeth supplemented with good oral hygiene is good enough to prevent the re-occurrence of HGF. This case study also acknowledged how HGF can be part of a multi-system syndrome associated with disorders such as Zimmermann Laband syndrome (ear, nose, bone, and nail defects with hepatosplenomegaly), Rutherford syndrome (microphthalmia, mental retardation, athetosis, and hypopigmentation), Murray-Puretic Drescher syndrome and Ramon syndrome.[1]
## See also[edit]
* Medicine portal
* Chronic periodontitis
* Epidemiology of periodontal diseases
* Gingivitis
* Gum graft
* Periodontist
* Tooth loss
* Gingival recession
## References[edit]
1. ^ a b c d e f g h i j k l m n o p q r Poulami Majumder, Vineet Nair, Malancha Mukherjee, Sujoy Ghosh, and Subrata Kumar Dey, “The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis,” Case Reports in Dentistry, vol. 2013, Article ID 432864, 4 pages, 2013. doi:10.1155/2013/432864
2. ^ a b c d e f g h i j Thomas C. Hart, Yingze Zhang, Michael C. Gorry, P. Suzanne Hart, Margaret Cooper, Mary L. Marazita, Jared M. Marks, Jose R. Cortelli, Debora Pallos Am J Hum Genet. 2002 April; 70(4): 943–954. Published online 2002 February 26.
3. ^ a b c d e f g h i K. B. Butchi, K. Pavankumar, B. R. Anuradha, and N. Arora, “Hereditary gingival fibromatosis—a case report and management using a novel surgical technique,” Revista Sul-Brasileira de Odontologia, vol. 8, no. 4, pp. 453–458, 2011.
4. ^ a b c d e S. DeAngelo, J. Murphy, L. Claman, J. Kalmar, and B. Leblebicioglu, “Hereditary gingival fibromatosis—a review,” Compendium of Continuing Education in Dentistry, vol. 28, no. 3, pp. 138–143, 2007. View at Scopus
5. ^ a b c R. J. Jorgenson and M. E. Cocker, “Variation in the inheritance and expression of gingival fibromatosis,” Journal of Periodontology, vol. 45, no. 7, pp. 472–477, 1974. View at Scopus
6. ^ a b c d A. Poulopoulos, D. Kittas, and A. Sarigelou, “Current concepts on gingival fibromatosis-related syndromes,” Journal of Investigative and Clinical Dentistry, vol. 2, no. 3, pp. 156–161, 2011. View at Publisher • View at Google Scholar
7. ^ a b c d e f g U. Khan, S. Mustafa, Z. Saleem, A. Azam, and Z. A. Khan, “Hereditary gingival fibromatosis diagnosis and treatment,” Pakistan Oral and Dental Journal, vol. 32, no. 2, pp. 226–231, 2012.
8. ^ a b c d e f T. Ramakrishnan and Manmeet Kaur, "Multispeciality Approach in the Management of Patient with Hereditary Gingival Fibromatosis: 1-Year Followup: A Case Report," Hindawi Publishing Corporation International Journal of Dentistry, Volume 2010, Article ID 575979, doi:10.1155/2010/575979
9. ^ a b c d Smith RG (1997) Gingival recession: reappraisal of an enigmatic condition and a new index for monitoring. J Clin Periodontol 24:201–205.
10. ^ a b c Scannapieco FA (1998) Position paper of The American Academy of Periodontology: periodontal disease as a potential risk factor for systemic diseases. J Periodontol 69:841–850.
11. ^ a b c R. D. Coletta and E. Graner, “Hereditary gingival fibromatosis: a systematic review,” Journal of Periodontology, vol. 77, no. 5, pp. 753–764, 2006.View at Publisher • View at Google Scholar • View at Scopus.
12. ^ a b c S. L. Singer, J. Goldblatt, L. A. Hallam, and J. C. Winters, “Hereditary gingival fibromatosis with a recessive mode of inheritance. Case reports,” Australian Dental Journal, vol. 38, no. 6, pp. 427–432, 1993. View at Scopus.
13. ^ Bayram Y, White JJ, Elcioglu N, Cho MT, Zadeh N, Gedikbasi A, Palanduz S, Ozturk S, Cefle K, Kasapcopur O, Coban Akdemir Z, Pehlivan D, Begtrup A, Carvalho CMB, Paine IS, Mentes A, Bektas-Kayhan K, Karaca E, Jhangiani SN, Muzny DM, Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Lupski JR (2017) REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet 101(1):149-156
## External links[edit]
Classification
D
* ICD-10: K06.1
* MeSH: D005351
External resources
* Orphanet: 2024
* American Academy of Periodontology Home Page
* Periodontal Disease as a Specific, albeit Chronic, Infection: Diagnosis and Treatment
* v
* t
* e
Dentistry involving supporting structures of teeth (Periodontology)
Anatomy
* Periodontium
* Alveolar bone
* Biologic width
* Bundle bone
* Cementum
* Free gingival margin
* Gingiva
* Gingival fibers
* Gingival sulcus
* Junctional epithelium
* Mucogingival junction
* Periodontal ligament
* Sulcular epithelium
* Stippling
Disease
Diagnoses
* Chronic periodontitis
* Localized aggressive periodontitis
* Generalized aggressive periodontitis
* Periodontitis as a manifestation of systemic disease
* Periodontosis
* Necrotizing periodontal diseases
* Abscesses of the periodontium
* Combined periodontic-endodontic lesions
Infection
* A. actinomycetemcomitans
* Capnocytophaga sp.
* F. nucleatum
* P. gingivalis
* P. intermedia
* T. forsythia
* T. denticola
* Red complex
* Entamoeba gingivalis (amoebic)
* Trichomonas tenax
Other
* Calculus
* Clinical attachment loss
* Edentulism
* Fremitus
* Furcation defect
* Gingival enlargement
* Gingival pocket
* Gingival recession
* Gingivitis
* Horizontal bony defect
* Linear gingival erythema
* Occlusal trauma
* Periodontal pocket
* Periodontal disease
* Periodontitis
* Plaque
* Vertical bony defect
Treatment and prevention
* Periodontal examination
* Ante's law
* Brushing
* Bleeding on probing
* Chlorhexidine gluconate
* Flossing
* Hydrogen peroxide
* Mouthwash
* Oral hygiene
* Tetracycline
* Triclosan
* Host modulatory therapy
Treatment
Conventional therapy
* Debridement
* Scaling and root planing
* Full mouth disinfection
* Full mouth ultrasonic debridement
Surgery
* Apically positioned flap
* Bone graft
* Coronally positioned flap
* Crown lengthening
* Free gingival graft
* Gingival grafting
* Gingivectomy
* Guided bone regeneration
* Guided tissue regeneration
* Enamel matrix derivative
* Implant placement
* Lateral pedicle graft
* Open flap debridement
* Pocket reduction surgery
* Socket preservation
* Sinus lift
* Subepithelial connective tissue graft
* Tools
* Curette
* Membrane
* Probe
* Scaler
Important personalities
* Tomas Albrektsson
* Frank Beube
* Per-Ingvar Brånemark
* Robert Gottsegen
* Gary Greenstein
* Jan Lindhe
* Brian Mealey
* Preston D. Miller
* Willoughby D. Miller
* Carl E. Misch
* John Mankey Riggs
* Jay Seibert
* Jørgen Slots
* Paul Roscoe Stillman
* Dennis P. Tarnow
* Hom-Lay Wang
* James Leon Williams
* W. J. Younger
Other specialties
* Endodontology
* Orthodontology
* Prosthodontology
* v
* t
* e
Oral and maxillofacial pathology
Lips
* Cheilitis
* Actinic
* Angular
* Plasma cell
* Cleft lip
* Congenital lip pit
* Eclabium
* Herpes labialis
* Macrocheilia
* Microcheilia
* Nasolabial cyst
* Sun poisoning
* Trumpeter's wart
Tongue
* Ankyloglossia
* Black hairy tongue
* Caviar tongue
* Crenated tongue
* Cunnilingus tongue
* Fissured tongue
* Foliate papillitis
* Glossitis
* Geographic tongue
* Median rhomboid glossitis
* Transient lingual papillitis
* Glossoptosis
* Hypoglossia
* Lingual thyroid
* Macroglossia
* Microglossia
* Rhabdomyoma
Palate
* Bednar's aphthae
* Cleft palate
* High-arched palate
* Palatal cysts of the newborn
* Inflammatory papillary hyperplasia
* Stomatitis nicotina
* Torus palatinus
Oral mucosa – Lining of mouth
* Amalgam tattoo
* Angina bullosa haemorrhagica
* Behçet's disease
* Bohn's nodules
* Burning mouth syndrome
* Candidiasis
* Condyloma acuminatum
* Darier's disease
* Epulis fissuratum
* Erythema multiforme
* Erythroplakia
* Fibroma
* Giant-cell
* Focal epithelial hyperplasia
* Fordyce spots
* Hairy leukoplakia
* Hand, foot and mouth disease
* Hereditary benign intraepithelial dyskeratosis
* Herpangina
* Herpes zoster
* Intraoral dental sinus
* Leukoedema
* Leukoplakia
* Lichen planus
* Linea alba
* Lupus erythematosus
* Melanocytic nevus
* Melanocytic oral lesion
* Molluscum contagiosum
* Morsicatio buccarum
* Oral cancer
* Benign: Squamous cell papilloma
* Keratoacanthoma
* Malignant: Adenosquamous carcinoma
* Basaloid squamous carcinoma
* Mucosal melanoma
* Spindle cell carcinoma
* Squamous cell carcinoma
* Verrucous carcinoma
* Oral florid papillomatosis
* Oral melanosis
* Smoker's melanosis
* Pemphigoid
* Benign mucous membrane
* Pemphigus
* Plasmoacanthoma
* Stomatitis
* Aphthous
* Denture-related
* Herpetic
* Smokeless tobacco keratosis
* Submucous fibrosis
* Ulceration
* Riga–Fede disease
* Verruca vulgaris
* Verruciform xanthoma
* White sponge nevus
Teeth (pulp, dentin, enamel)
* Amelogenesis imperfecta
* Ankylosis
* Anodontia
* Caries
* Early childhood caries
* Concrescence
* Failure of eruption of teeth
* Dens evaginatus
* Talon cusp
* Dentin dysplasia
* Dentin hypersensitivity
* Dentinogenesis imperfecta
* Dilaceration
* Discoloration
* Ectopic enamel
* Enamel hypocalcification
* Enamel hypoplasia
* Turner's hypoplasia
* Enamel pearl
* Fluorosis
* Fusion
* Gemination
* Hyperdontia
* Hypodontia
* Maxillary lateral incisor agenesis
* Impaction
* Wisdom tooth impaction
* Macrodontia
* Meth mouth
* Microdontia
* Odontogenic tumors
* Keratocystic odontogenic tumour
* Odontoma
* Dens in dente
* Open contact
* Premature eruption
* Neonatal teeth
* Pulp calcification
* Pulp stone
* Pulp canal obliteration
* Pulp necrosis
* Pulp polyp
* Pulpitis
* Regional odontodysplasia
* Resorption
* Shovel-shaped incisors
* Supernumerary root
* Taurodontism
* Trauma
* Avulsion
* Cracked tooth syndrome
* Vertical root fracture
* Occlusal
* Tooth loss
* Edentulism
* Tooth wear
* Abrasion
* Abfraction
* Acid erosion
* Attrition
Periodontium (gingiva, periodontal ligament, cementum, alveolus) – Gums and tooth-supporting structures
* Cementicle
* Cementoblastoma
* Gigantiform
* Cementoma
* Eruption cyst
* Epulis
* Pyogenic granuloma
* Congenital epulis
* Gingival enlargement
* Gingival cyst of the adult
* Gingival cyst of the newborn
* Gingivitis
* Desquamative
* Granulomatous
* Plasma cell
* Hereditary gingival fibromatosis
* Hypercementosis
* Hypocementosis
* Linear gingival erythema
* Necrotizing periodontal diseases
* Acute necrotizing ulcerative gingivitis
* Pericoronitis
* Peri-implantitis
* Periodontal abscess
* Periodontal trauma
* Periodontitis
* Aggressive
* As a manifestation of systemic disease
* Chronic
* Perio-endo lesion
* Teething
Periapical, mandibular and maxillary hard tissues – Bones of jaws
* Agnathia
* Alveolar osteitis
* Buccal exostosis
* Cherubism
* Idiopathic osteosclerosis
* Mandibular fracture
* Microgenia
* Micrognathia
* Intraosseous cysts
* Odontogenic: periapical
* Dentigerous
* Buccal bifurcation
* Lateral periodontal
* Globulomaxillary
* Calcifying odontogenic
* Glandular odontogenic
* Non-odontogenic: Nasopalatine duct
* Median mandibular
* Median palatal
* Traumatic bone
* Osteoma
* Osteomyelitis
* Osteonecrosis
* Bisphosphonate-associated
* Neuralgia-inducing cavitational osteonecrosis
* Osteoradionecrosis
* Osteoporotic bone marrow defect
* Paget's disease of bone
* Periapical abscess
* Phoenix abscess
* Periapical periodontitis
* Stafne defect
* Torus mandibularis
Temporomandibular joints, muscles of mastication and malocclusions – Jaw joints, chewing muscles and bite abnormalities
* Bruxism
* Condylar resorption
* Mandibular dislocation
* Malocclusion
* Crossbite
* Open bite
* Overbite
* Overeruption
* Overjet
* Prognathia
* Retrognathia
* Scissor bite
* Maxillary hypoplasia
* Temporomandibular joint dysfunction
Salivary glands
* Benign lymphoepithelial lesion
* Ectopic salivary gland tissue
* Frey's syndrome
* HIV salivary gland disease
* Necrotizing sialometaplasia
* Mucocele
* Ranula
* Pneumoparotitis
* Salivary duct stricture
* Salivary gland aplasia
* Salivary gland atresia
* Salivary gland diverticulum
* Salivary gland fistula
* Salivary gland hyperplasia
* Salivary gland hypoplasia
* Salivary gland neoplasms
* Benign: Basal cell adenoma
* Canalicular adenoma
* Ductal papilloma
* Monomorphic adenoma
* Myoepithelioma
* Oncocytoma
* Papillary cystadenoma lymphomatosum
* Pleomorphic adenoma
* Sebaceous adenoma
* Malignant: Acinic cell carcinoma
* Adenocarcinoma
* Adenoid cystic carcinoma
* Carcinoma ex pleomorphic adenoma
* Lymphoma
* Mucoepidermoid carcinoma
* Sclerosing polycystic adenosis
* Sialadenitis
* Parotitis
* Chronic sclerosing sialadenitis
* Sialectasis
* Sialocele
* Sialodochitis
* Sialosis
* Sialolithiasis
* Sjögren's syndrome
Orofacial soft tissues – Soft tissues around the mouth
* Actinomycosis
* Angioedema
* Basal cell carcinoma
* Cutaneous sinus of dental origin
* Cystic hygroma
* Gnathophyma
* Ludwig's angina
* Macrostomia
* Melkersson–Rosenthal syndrome
* Microstomia
* Noma
* Oral Crohn's disease
* Orofacial granulomatosis
* Perioral dermatitis
* Pyostomatitis vegetans
Other
* Eagle syndrome
* Hemifacial hypertrophy
* Facial hemiatrophy
* Oral manifestations of systemic disease
* v
* t
* e
Inflammation
Symptoms
* Flushing (Rubor)
* Fever (Calor)
* Swelling (Tumor)
* Pain (Dolor)
* Malaise
Mechanism
Acute
Plasma-derived mediators
* Bradykinin
* complement
* C3
* C5a
* MAC
* coagulation
* Factor XII
* Plasmin
* Thrombin
Cell-derived mediators
preformed:
* Lysosome granules
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*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
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*[LAPC]: locally advanced prostate cancer
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*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
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*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
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| Hereditary gingival fibromatosis | c0399440 | 29,620 | wikipedia | https://en.wikipedia.org/wiki/Hereditary_gingival_fibromatosis | 2021-01-18T18:53:01 | {"mesh": ["D005351", "C562884"], "umls": ["C0399440"], "orphanet": ["2024"], "wikidata": ["Q10282075"]} |
This article is about the syndrome. For other uses, see Jet lag (disambiguation).
Physiological condition caused by travel across time zones
Jet lag
Other namesDesynchronosis, circadian dysrhythmia
SpecialtyPsychiatry, Neurology Aviation Medicine
Jet lag is a physiological condition that results from alterations to the body's circadian rhythms caused by rapid long-distance trans-meridian (east–west or west–east) travel. For example, someone flying from New York to London, i.e. from west to east, feels as if the time were five hours earlier than local time, and someone travelling from London to New York, i.e. from east to west, feels as if the time were five hours later than local time. Jet lag was previously classified as one of the circadian rhythm sleep disorders.[1]
The condition of jet lag may last several days before the traveller is fully adjusted to the new time zone; a recovery period of one day per time zone crossed is a suggested guideline. Jet lag is especially an issue for airline pilots, aircraft crew, and frequent travellers. Airlines have regulations aimed at combating pilot fatigue caused by jet lag.
The term "jet lag" is used because before the arrival of passenger jet aircraft, it was uncommon to travel far and fast enough to cause desynchronosis. Travel by propeller-driven aircraft, by ship, or by train was slower and of more limited distance than jet flights, and thus did not contribute widely to the issue.
## Contents
* 1 Signs and symptoms
* 1.1 Travel fatigue
* 2 Cause
* 2.1 Double desynchronisation
* 2.2 Delayed sleep phase disorder
* 3 Management
* 3.1 Direction of travel
* 3.2 Management after travelling east
* 3.3 Management when travelling west
* 3.4 Methods
* 3.4.1 Light exposure
* 3.4.2 Melatonin administration
* 3.4.3 Exercise and nutrition
* 3.4.4 Rescheduling of sleep
* 3.4.5 Pharmacotherapy
* 4 Mental health implications
* 5 See also
* 6 References
* 7 External links
## Signs and symptoms[edit]
The symptoms of jet lag can be quite varied, depending on the amount of time zone alteration, time of day, and individual differences. Sleep disturbance occurs, with poor sleep upon arrival and/or sleep disruptions such as trouble falling asleep (when flying east), early awakening (when flying west), and trouble remaining asleep. Cognitive effects include poorer performance on mental tasks and concentration; dizziness, nausea, insomnia, confusion, anxiety, increased fatigue, headaches, and irritability; and problems with digestion, including indigestion, changes in the frequency of defecation and consistency of faeces, and reduced interest in and enjoyment of food.[2] The symptoms are caused by a circadian rhythm that is out of sync with the day-night cycle of the destination,[3] as well as the possibility of internal desynchronisation. Jet lag has been measured with simple analogue scales, but a study has shown that these are relatively blunt for assessing all the problems associated with jet lag. The Liverpool Jet Lag Questionnaire was developed to measure all the symptoms of jet lag at several times of day, and this dedicated measurement tool has been used to assess jet lag in athletes.[4]
Jet lag may require a change of three time zones or more to occur, though some individuals can be affected by as little as a single time zone or the single-hour shift to or from daylight saving time.[3] Symptoms and consequences of jet lag can be a significant concern for athletes travelling east or west to competitions, as performance is often dependent on a combination of physical and mental characteristics that are affected by jet lag.[5]
### Travel fatigue[edit]
Travel fatigue is general fatigue, disorientation, and headache caused by a disruption in routine, time spent in a cramped space with little chance to move around, a low-oxygen environment, and dehydration caused by dry air and limited food and drink. It does not necessarily involve the shift in circadian rhythms that cause jet lag. Travel fatigue can occur without crossing time zones, and it often disappears after one day accompanied by a night of good quality sleep.[3]
## Cause[edit]
Jet lag is a chronobiological problem,[6] similar to issues often induced by shift work and the circadian rhythm sleep disorders. When travelling across a number of time zones, the body clock (circadian rhythm) will be out of synchronisation with the destination time, as it experiences daylight and darkness contrary to the rhythms to which it has grown accustomed. The body's natural pattern is upset, as the rhythms that dictate times for eating, sleeping, hormone regulation, body temperature variations, and other functions no longer correspond to the environment, nor to each other in some cases. To the degree that the body cannot immediately realign these rhythms, it is jet lagged.
The speed at which the body adjusts to the new schedule depends on the individual as well as the direction of travel; some people may require several days to adjust to a new time zone, while others experience little disruption.
Crossing the International Date Line does not in itself contribute to jet lag, as the guide for calculating jet lag is the number of time zones crossed, with a maximum possible time difference of plus or minus 12 hours. If the time difference between two locations is greater than 12 hours, one must subtract that number from 24. For example, the time zone UTC+14 will be at the same time of day as UTC−10, though the former is one day ahead of the latter.
Jet lag is linked only to the trans-meridian (west–east or east–west) distance travelled. A ten-hour flight between Europe and southern Africa does not cause jet lag, as the direction of travel is primarily north–south. A four-hour flight between Miami, Florida and Phoenix, Arizona in the United States may result in jet lag, as the direction of travel is primarily east–west.
### Double desynchronisation[edit]
There are two separate processes related to biological timing: circadian oscillators and homeostasis.[7][8] The circadian system is located in the suprachiasmatic nucleus (SCN) in the hypothalamus of the brain. The other process is homeostatic sleep propensity, which is a function of the amount of time elapsed since the last adequate sleep episode.[8]
The human body has a master clock in the SCN and also peripheral oscillators in tissues. The SCN's role is to send signals to peripheral oscillators, which synchronise them for physiological functions. The SCN responds to light information sent from the retina. It is hypothesised that peripheral oscillators respond to internal signals such as hormones, food intake, and "nervous stimuli".[9]
The implication of independent internal clocks may explain some of the symptoms of jet lag. People who travel across several time zones can, within a few days, adapt their sleep–wake cycles with light from the environment. However, their skeletal muscles, liver, lungs, and other organs will adapt at different rates.[10] This internal biological de-synchronisation is exacerbated as the body is not in sync with the environment – a "double desynchronisation", which has implications for health and mood.[11]
### Delayed sleep phase disorder[edit]
Delayed sleep phase disorder is a medical disorder characterized by delayed sleeping time and a proportionately delayed waking time due to a phase delay in the endogenous biological master clock. Specific genotypes underlie this disorder. If allowed to sleep as dictated by their endogenous clock these individuals do not suffer any ill effects as a result of their phase shifted sleeping time.
## Management[edit]
Light is the strongest stimulus for realigning a person's sleep–wake schedule, and careful control of exposure to and avoidance of bright light to the eyes can speed adjustment to a new time zone.[5] The hormone melatonin is produced in dim light and darkness in humans, and it is eliminated by light.
### Direction of travel[edit]
North–south flights that do not cross time zones do not cause jet lag. However, crossing of the Arctic Ocean or even the North Pole (often the shortest route between northeast Europe and Alaska or the Canadian West Coast and East Asia) does cause a significant time change. Jet travel from Alaska to northeast Europe causes a pattern of jet lag very similar to an eastward flight at lower latitudes. Seasonal differences in sunlight if one crosses the equator may make a slightly disrupted sleeping pattern at the destination.
In general, adjustment to the new time zone is faster for east–west travel than for west–east. A westward adjustment takes, in days, approximately half the number of time zones crossed; for eastward travel, adjusting to the new time zone takes, in days, approximately two-thirds the number of time zones crossed.[3] Studies[citation needed] have shown that performance in both individual and team sports is measurably better in athletes who have flown westward to the venue than in the opposite direction.
### Management after travelling east[edit]
Travelling east causes more problems than travelling west because the body clock has to be advanced, which is more difficult for the majority of humans than delaying it. Most people have an endogenous circadian rhythm that is longer than 24 hours, so lengthening a day is less troublesome than shortening it. Equally important, the necessary exposure to light to realign the body clock does not tie in with the day/night cycle at the destination.[3]
Travelling east by six to nine time zones causes the biggest problems, as it is desirable to avoid light in the mornings. Waterhouse et al.[3] recommend:
Time zones Local time to avoid light at destination Local time to seek light at destination
East 6h 03:00–09:00 11:00–17:00
East 7h 04:00–10:00 12:00–18:00
East 8h 05:00–11:00 13:00–19:00
East 9h 06:00–12:00 14:00–20:00
Travelling east by 10 hours or more is usually best managed by assuming it is a 14-hour westward transition and delaying the body clock.[3] A customised jet lag program can be obtained from an online jet lag calculator. These programs consider the sleep pattern of the user, the number of time zones crossed, and the direction of travel. The efficacy of these jet lag calculators has not been documented.
### Management when travelling west[edit]
Travelling west causes fewer problems than travelling east, and it is usually sufficient to seek exposure to light during the day and avoid it at night.[3]
The advice is to prepare by having late sleep times the days before, and to travel daytime (not so early that early wakeup is needed) and to sleep some on board in order to be less tired at arrival and during ground transfer.
### Methods[edit]
Some methods are described below.
#### Light exposure[edit]
Timed light exposure can be effective to help people match their circadian rhythms with the expected cycle at their destination; it requires strict adherence to timing.[12] Light therapy is a popular method used by professional athletes to reduce jet lag.[13] Special glasses, usually battery-driven, provide light to the eyes, thus inhibiting the production of melatonin in the brain. Timed correctly, the light may contribute to an advance or delay of the circadian phase to that which will be needed at the destination. The glasses may be used on the plane or even before users leave their departure city.[14]
#### Melatonin administration[edit]
Timed melatonin administration may be effective in reducing jet lag symptoms.[15] The benefit of using melatonin is likely to be greater for eastward flights than for westward ones because for most people it is easier to delay than to advance the circadian rhythm. There remain issues regarding the appropriate timing of melatonin use in addition to the legality of the substance in certain countries.[5] How effective it may actually be is also questionable.[3] For athletes, anti-doping agencies may prohibit or limit its use.[5]
Melatonin can be considered to be a darkness signal, with effects on circadian timing that are the opposite of the effects of exposure to light.[16][17] Melatonin receptors are situated on the suprachiasmatic nucleus, which is the anatomical site of the circadian clock.[18] The results of a few field studies of melatonin administration, monitoring circadian phase, have provided evidence for a correlation between the reduction of jet lag symptoms and the accelerated realignment of the circadian clock.[19]
#### Exercise and nutrition[edit]
Timing of exercise and food consumption have also been suggested as remedies, though their applicability in humans and practicality for most travellers are not certain, and no firm guidelines exist.[3][5] There is very little data supporting the use of diet to adjust to jet lag.[3] While there is data supporting the use of exercise, the intensity of exercise that may be required is significant, and possibly difficult to maintain for non-athletes.[3] These strategies may be used both before departure and after landing. Individuals may differ in their susceptibility to jet lag and in how quickly they can adjust to new sleep–wake schedules.[5]
Short-acting sleep medications can be used to improve sleep quality and timing, and stimulating substances such as caffeine can be used to promote wakefulness, though research results on their success at adapting to jet lag are inconsistent.[3]
For time changes of fewer than three hours, jet lag is unlikely to be a concern, and if travel is for short periods (three days or fewer) retaining a "home schedule" may be better for most people.[3] Sleeping on the plane is only advised if it is within the destination's normal sleep time.[3]
#### Rescheduling of sleep[edit]
In the case of short duration trips, an easy way to minimize jet lag is to maintain the sleep-wake schedule from home after arriving at the destination, but this strategy is often unpractical in regard to desired social activities or work obligations.[20] Shifting your sleep schedule before departure by 1–2 hours to match the destination time zone may also shorten the duration of jet lag.[21] Symptoms can be reduced even more through a combination of artificial exposure to light and rescheduling, as it has been shown to augment phase-shifting.[22]
#### Pharmacotherapy[edit]
A short hypnotic medication has been effective to reduce insomnia related to jet lag.[23][24] In a study, zolpidem improved sleep quality and reduced awakenings for people traveling across five to nine time zones.[25] Potential adverse effects of hypnotic agents, like amnesia and confusion, should be taken into account.[26] Several cases using triazolam to promote sleep during a flight reported dramatic global amnesia.[27]
## Mental health implications[edit]
Jet lag may affect the mental health of vulnerable individuals. When travelling across time zones, there is a "phase-shift of body temperature, rapid-eye-movement sleep, melatonin production, and other circadian rhythms".[28] A 2002 study found that relapse of major affective and psychotic disorders occurred more frequently when seven or more time zones had been crossed in the past week than when three or fewer had been crossed.[29] Although significant disruptions of circadian rhythms had been documented as affecting individuals with bipolar disorder, an Australian team studied suicide statistics from 1971 to 2001 to determine whether the one-hour shifts involved in daylight saving time had an effect. They found increased incidence of male suicide after the commencement of daylight saving time but not after returning to standard time.[30]
## See also[edit]
Wikivoyage has a travel guide for Jet lag.
* Delayed sleep phase disorder
* Sleep deprivation
## References[edit]
1. ^ "Highlights of Changes from DSM-IV-TR to DSM5" (PDF). American Psychiatric Association. 17 May 2013. Archived from the original (PDF) on 17 September 2013. Retrieved 23 May 2013.
2. ^ Doyle, Ashley (10 January 2020). "Jet Lag: It's Symptoms and What you can do to stop it". Savvysleeper. Retrieved 3 June 2020.
3. ^ a b c d e f g h i j k l m n o Waterhouse, J; Reilly, T; Atkinson, G; Edwards, B (31 March 2007). "Jet lag: trends and coping strategies". The Lancet. 369 (9567): 1117–1129. doi:10.1016/S0140-6736(07)60529-7. PMID 17398311. S2CID 1569314. Retrieved 1 August 2015.
4. ^ Waterhouse, J.; Edwards, B.; Nevill, A.; Carvalho, S.; Atkinson, G.; Buckley, P.; Reilly, T.; Godfrey, R.; Ramsay, R. (2002). "Identifying some determinants of "jet lag" and its symptoms: A study of athletes and other travellers". British Journal of Sports Medicine. 36 (1): 54–60. doi:10.1136/bjsm.36.1.54. PMC 1724441. PMID 11867494.
5. ^ a b c d e f Forbes-Robertson, S.; Dudley, E.; Vadgama, P.; Cook, C.; Drawer, S.; Kilduff, L. (2012). "Circadian Disruption and Remedial Interventions". Sports Medicine. 42 (3): 185–208. doi:10.2165/11596850-000000000-00000. PMID 22299812. S2CID 35498294.
6. ^ Waterhouse, J. (1999). "Jet-lag and shift work: (1). Circadian rhythms". Journal of the Royal Society of Medicine. 92 (8): 398–401. doi:10.1177/014107689909200804. PMC 1297314. PMID 10656004.
7. ^ Beersma, D. G. (1998). "Models of human sleep regulation". Sleep (PDF). Sleep Medicine Reviews. 2. Berlin: Springer. pp. 61–70. doi:10.1016/s1087-0792(98)90052-1. PMID 15310511.
8. ^ a b Dijk, D. J.; Lockley, S. W. (2002). "Invited Review: Integration of human sleep–wake regulation and circadian rhythmicity". Journal of Applied Physiology. 92 (2): 852–862. doi:10.1152/japplphysiol.00924.2001. PMID 11796701.
9. ^ Brown, S. A. & Azzi, A. (2013). "Peripheral circadian oscillators in mammals". Circadian clocks. Berlin: Springer. pp. 45–66. Center for Substance Abuse Treatment (2008). "Appendix D: DSM-IV-TR Mood Disorders". Managing Depressive Symptoms in Substance Abuse Clients During Early Recovery. Treatment Improvement Protocol (TIP) Series, No. 48. Rockville, MD: Substance Abuse and Mental Health Services Administration.
10. ^ Yamazaki, S.; Numano, R.; Abe, M.; Hida, A.; Takahashi, R. I.; Ueda, M.; Tei, H. (2000). "Resetting central and peripheral circadian oscillators in transgenic rats". Science. 288 (5466): 682–685. Bibcode:2000Sci...288..682Y. doi:10.1126/science.288.5466.682. PMID 10784453. S2CID 8102779.
11. ^ Wirz-Justice, A (2006). "Biological rhythm disturbances in mood disorders". International Clinical Psychopharmacology. 21: S11–S15. doi:10.1097/01.yic.0000195660.37267.cf. PMID 16436934. S2CID 233040.
12. ^ Sack, R. L.; Auckley, D.; Auger, R. R.; Carskadon, M. A.; Wright Jr, K. P.; Vitiello, M. V.; Zhdanova, I. V. (2007). "Circadian Rhythm Sleep Disorders: Part I, Basic Principles, Shift Work and Jet Lag Disorders An American Academy of Sleep Medicine Review". Sleep. 30 (11): 1460–83. doi:10.1093/sleep/30.11.1460. PMC 2082105. PMID 18041480.
13. ^ Mitchell, Peter (17 March 2014). "LA Dodgers bring secret weapon to Sydney". The Sydney Morning Herald. Retrieved 21 October 2014.
14. ^ Lack, Leon. "Resetting the Body Clock and Other research and insomniac treatment contacts". Flinders University. Archived from the original on 21 October 2014. Retrieved 21 October 2014.
15. ^ Petrie, K.; Conaglen, J. V.; Thompson, L.; Chamberlain, K. (1989). "Effect of melatonin on jet lag after long haul flights". BMJ. 298 (6675): 705–707. doi:10.1136/bmj.298.6675.705. PMC 1835985. PMID 2496815.
16. ^ Lewy, A., Bauer, V. K., Ahmed, S., Thomas, K. H., Cutler, N. L., Singer, C. M., ... Sack, R. (1998). The human phase response curve (PRC) to melatonin is about 12 hours out of phase with the PRC to light. Chronobiology International, 15(1), 71-83.
17. ^ Burgess, H. J., Revell, V. L., Eastman, C. I. (2008). A three pulse phase response curve to three milligrams of melatonin in humans. J Physiol, 586:639–47. doi:10.1113/jphysiol.2007.143180
18. ^ Dubocovich, M. L., Benloucif, S., Masana, M. I. (1996). Melatonin receptors in the mammalian suprachiasmatic nucleus. Behav Brain Res, 73:141–7.
19. ^ Piérard, C., Beaumont, M., Enslen, M. et al. (2001). Resynchronization of hormonal rhythms after an eastbound flight in humans: effects of slow-release caffeine and melatonin. Eur J Appl Physiol, 85:144. doi:10.1007/s004210100418
20. ^ Lowden, A., Akerstedt, T. (1998). Retaining home-base sleep hours to prevent jet lag in connection with a westward flight across nine time zones. Chronobiol Int, 15:365–76.
21. ^ Sack, R. L. (2010). Clinical practice : Jet lag. N Engl J Med, 362:440–7. doi:10.1056/NEJMcp0909838
22. ^ Eastman, C. I., Burgess H. J. (2009). How to travel the world without jet lag. Sleep Med Clin, 4:241–55. doi:10.1016/j.jsmc.2009.02.006
23. ^ Suhner, A., Schlagenhauf, P., Höfer, I., Johnson, R., Tschopp, A., Steffen, R. (2001). Effectiveness and tolerability of melatonin and zolpidem for the alleviation of jet lag. Aviat Space Environ Med, 72:638–46.
24. ^ Reilly, T., Atkinson, G., Budgett, R. (2001). Effect of low-dose temazepam on physiological variables and performance tests following a westerly flight across five time zones. Int J Sports Med, 22:166–74. doi:10.1055/s-2001-16379
25. ^ Jamieson, A.O., Zammit, G.K., Rosenberg, R.S., Davis, J. R., Walsh, J. K. (2001). Zolpidem reduces the sleep disturbance of jet lag. Sleep Med, 2:423–30.
26. ^ Dolder, C. R., Nelson, M. H. (2008). Hypnosedative-induced complex behaviours: incidence, mechanisms and management. CNS Drugs, 22:1021-36. doi:10.2165/0023210-200822120-00005
27. ^ Morris, H. H. III, Estes, M. L. (1987). Traveler’s amnesia: transient global amnesia secondary to triazolam. JAMA, 258:945–6. doi:10.1001/jama.258.7.945
28. ^ Young, D. M. (1995). "Psychiatric morbidity in travelers to Honolulu, Hawaii". Comprehensive Psychiatry. 36 (3): 224–228. doi:10.1016/0010-440x(95)90086-b. PMID 7648847.
29. ^ Katz, G.; Knobler, H. Y.; Laibel, Z.; Strauss, Z.; Durst, R. (2002). "Time zone change and major psychiatric morbidity: the results of a 6-year study in Jerusalem". Comprehensive Psychiatry. 43 (1): 37–40. doi:10.1053/comp.2002.29849. PMID 11788917.
30. ^ Berk, M.; Dodd, S.; Hallam, K.; Berk, L.; Gleeson, J.; Henry, M. (2008). "Small shifts in diurnal rhythms are associated with an increase in suicide: the effect of daylight saving". Sleep and Biological Rhythms. 6 (1): 22–25. doi:10.1111/j.1479-8425.2007.00331.x. S2CID 146306689.
## External links[edit]
Classification
D
* ICD-10: G47.25
* ICD-9-CM: 307.45, 780.50 327.35
* MeSH: D021081
* DiseasesDB: 7045
* v
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Sleep and sleep disorders
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* Dreams
* Exploding head syndrome
* Hypnic jerk
* Hypnagogia / Sleep onset
* Hypnopompic state
* Sleep paralysis
* Sleep inertia
* Somnolence
* Nocturnal clitoral tumescence
* Nocturnal penile tumescence
* Nocturnal emission
Treatment
* Sleep diary
* Sleep hygiene
* Sleep induction
* Hypnosis
* Lullaby
* Somnology
* Polysomnography
Other
* Sleep medicine
* Behavioral sleep medicine
* Sleep study
Daily life
* Bed
* Bunk bed
* Daybed
* Four-poster bed
* Futon
* Hammock
* Mattress
* Sleeping bag
* Bed bug
* Bedding
* Bedroom
* Bedtime
* Bedtime story
* Bedtime toy
* Biphasic and polyphasic sleep
* Chronotype
* Dream diary
* Microsleep
* Mouth breathing
* Nap
* Nightwear
* Power nap
* Second wind
* Siesta
* Sleep and creativity
* Sleep and learning
* Sleep deprivation / Sleep debt
* Sleeping while on duty
* Sleepover
* Snoring
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Jet lag | c0231311 | 29,621 | wikipedia | https://en.wikipedia.org/wiki/Jet_lag | 2021-01-18T18:41:59 | {"mesh": ["D020179"], "icd-9": ["327.35", "307.45", "780.50"], "icd-10": ["G47.2"], "wikidata": ["Q192579"]} |
Neuronal migration disorder
Brain MRI, T1 weighted on a transversal plane, of an 8-month old boy with lissencephaly. Note the scarce and wide gyri, mostly on the parietal, temporal and occipital lobes, the absence of a true Sylvian fissure, and the augmented thickness of the gray matter. The boy had a severe developmental delay and seizures.
SpecialtyNeurology
Neuronal migration disorder (NMD) refers to a heterogenous group of disorders that, it is supposed, share the same etiopathological mechanism: a variable degree of disruption in the migration of neuroblasts during neurogenesis.[1] The neuronal migration disorders are termed cerebral dysgenesis disorders, brain malformations caused by primary alterations during neurogenesis; on the other hand, brain malformations are highly diverse and refer to any insult to the brain during its formation and maturation due to intrinsic or extrinsic causes that ultimately will alter the normal brain anatomy. However, there is some controversy in the terminology because virtually any malformation will involve neuroblast migration, either primarily or secondarily.
## Contents
* 1 Symptoms
* 2 Cause
* 3 Diagnosis
* 3.1 Types of NMD syndromes
* 4 Treatment
* 5 Prognosis
* 6 References
## Symptoms[edit]
Symptoms vary according to the abnormality, but often feature poor muscle tone and motor function, seizures, developmental delays, mental retardation, failure to grow and thrive, difficulties with feeding, swelling in the extremities, and a smaller than normal head. Most infants with an NMD appear normal, but some disorders have characteristic facial or skull features that can be recognized by a neurologist.[2]
## Cause[edit]
In the developing brain, neural stem cells must migrate from the areas where they are born to the areas where they will settle into their proper neural circuits. Neuronal migration, which occurs as early as the second month of gestation, is controlled by a complex assortment of chemical guides and signals. When these signals are absent or incorrect, neurons do not end up where they belong. This can result in structurally abnormal or missing areas of the brain in the cerebral hemispheres, cerebellum, brainstem, or hippocampus.[2]
Several genetic abnormalities in children with NMDs have been identified. Defects in genes that are involved in neuronal migration have been associated with NMDs, but the role they play in the development of these disorders is not yet well understood.[2]
A study in Sweden investigated the impact of environmental factors on NMDs. The study indicated that there might be an impact of low or subnormal maternal BMI before and during pregnancy, maternal infection, such as rubella, and maternal smoking on fetal brain development, including neuronal migration. The roles of maternal BMI and congenital infections should be tested in future analytical studies.[3]
NMDs occur in the instance that 1) neuroblasts do not migrate from all of the ventricles or migrate only part of the way, 2) only some of the neuroblasts reach the cortical layer, 3) neuroblasts overshoot the appropriate cortical layer and protrude into the subarachnoid space, or 4) the late stage organization of the neuronal layer in the cortex is disrupted. Abnormal migration ultimately results in abnormal gyral formation.[4]
## Diagnosis[edit]
### Types of NMD syndromes[edit]
More than 25 syndromes resulting from abnormal neuronal migration have been described. Among them are syndromes with several different patterns of inheritance; genetic counseling thus differs greatly between syndromes.[2]
* Lissencephaly
* Microlissencephaly
* Schizencephaly
* Porencephaly
* Pachygyria
* Polymicrogyria
* Agyria
* Macrogyria
* Microgyria
* Micropolygyria
* Grey matter heterotopia
* Agenesis of the corpus callosum
* Agenesis of the cranial nerves
* Band heterotopias
Focal cortical dysplasia, Miller–Dieker syndrome, muscle-brain-eye syndrome [de], Fukuyama congenital muscular dystrophy and Walker–Warburg syndrome are genetic disorders associated with lissencephaly.[5]
## Treatment[edit]
Treatment is symptomatic and may include anti-seizure medication and special or supplemental education consisting of physical, occupational and speech therapies.[2]
## Prognosis[edit]
The prognosis for children with NMDs varies depending on the specific disorder and the degree of brain abnormality and subsequent neurological signs and symptoms.[2]
## References[edit]
1. ^ Sarnat, Harvey (1992). Cerebral dysgenesis, embryology and clinical expression. New York, US: Oxford University Press. ISBN 978-0-19-506442-1.
2. ^ a b c d e f "NINDS Neuronal Migration Disorders Information Page". National Institute of Neurological Disorders and Stroke. National Institutes of Health. 30 September 2011. Archived from the original on 9 February 2014. Retrieved 3 Feb 2014.
3. ^ Naumburg, E.; Strömberg, B.; Kieler, H. (2012). "Prenatal Characteristics of Infants with a Neuronal Migration Disorder: A National-Based Study". International Journal of Pediatrics. 2012: 1–5. doi:10.1155/2012/541892. PMC 3324140. PMID 22548087.
4. ^ Agamanolis, Dimitri (January 2014). "MALFORMATIONS OF CORTICAL DEVELOPMENT AND NEURONAL MIGRATION DEFECTS". Neuropathology-Web.org. NEOMED. Retrieved 3 Feb 2014.
5. ^ Spalice, Alberto; Pasquale, P; Francesco, N (2009). "Neuronal migration disorders: clinical, neuroradiologic and genetic aspects". Acta Paediatrica. 98 (3): 421–433. doi:10.1111/j.1651-2227.2008.01160.x. PMID 19120042.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Neuronal migration disorder | c1837249 | 29,622 | wikipedia | https://en.wikipedia.org/wiki/Neuronal_migration_disorder | 2021-01-18T18:54:12 | {"mesh": ["D054081"], "umls": ["C1837249"], "orphanet": ["163209"], "wikidata": ["Q17146964"]} |
## Description
Geniospasm is characterized by spontaneous intermittent involuntary quivering or trembling of the chin that is intensified by stress or anxiety. The movements are first noticed in infancy or childhood and usually abate by late adulthood (Wadlington, 1958; Danek et al., 1991).
Clinical Features
Wadlington (1958) found geniospasm (trembling chin) with no associated neurologic or other abnormalities in 8 members of 3 generations of a family. Anxiety or emotional upset was a trigger mechanism and tranquilizing and anticonvulsant agents reduced the attacks. Attacks were observed as early as 2 months of age. There was no instance of male-to-male transmission and all 3 daughters of the 1 male with children were affected. Other families with trembling chin had been reported by Grossman (1957), Frey (1930) and Ganner (1938), and the families reported by Stocks (1922) and by Goldsmith (1927) with facial spasm (134300) probably had trembling chin. Male-to-male transmission occurred in some of these families. The condition was probably first reported by Massaro (1894), who described 26 cases in 5 generations of a Sicilian family. He used the designation geniospasm (in analogy to blepharospasm) for the observed intermittent, sudden, involuntary clonic contractions that were triggered by strong emotion and limited to the transverse muscles of the chin. The contractions never occurred during sleep.
Laurance et al. (1968) described 2 families. The condition ameliorated with age.
Danek et al. (1991) found reports of a total of 18 families since the publication of Massaro (1894). They noted that the quivering of the skin over the chin is intermittent and may be either spontaneous or stress-induced. Danek et al. (1991) described a family from upper Bavaria in which 13 members of 4 generations were affected. They referred to the disorder in German as 'Kinnmuskelzittern.'
The clinical characteristics of 2 British families studied by Jarman et al. (1997) were described by Soland et al. (1996). Affected individuals experienced characteristic involuntary up- and down-movement of the tip of the chin, with a superimposed quivering activity and movement of the lower lip. Episodes of geniospasm frequently were precipitated by stress, concentration, or extremes of emotion or occurred spontaneously, particularly in young children, and usually lasted several minutes. In all cases, the onset of symptoms was in infancy or early childhood, and, in 1 family member, geniospasm was observed as early as hours after birth. Attacks became less frequent as the subjects aged, the highest frequency occurring during childhood and adolescence. Some affected individuals in 1 family suffered from nocturnal involuntary tongue biting during early childhood; the disorder in this family was mapped to chromosome 9 (see MAPPING section). There were no other associated neurologic abnormalities.
Destee et al. (1997) described a French Caucasian family with affected individuals in 4 generations, including 1 instance of male-to-male transmission. In the 35-year-old index case, the anomaly had been present since birth, constantly during childhood, and thereafter episodically, lasting a few minutes. It occurred particularly in stressful situations, such as playing videogames or during working hours when meeting customers. It was described as a tremulous movement of the chin, but the man said that he had once noted abnormal involuntary movement spreading to the upper lip. During periods of severe stress, the abnormal involuntary movement was so great that it was present during sleep and sometimes woke him up. He was unable to initiate or suppress it. Neurophysiologic recording showed that the movement was not sinusoidal and that there was an interval between each movement. Destee et al. (1997) suggested that the involuntary movement cannot be considered a tremor but should rather be classified as hereditary chin myoclonus, i.e., a focal variant of hereditary essential myoclonus.
Diaz et al. (1999) stated that 23 families with chin tremor/myoclonus had been reported. They reported the first affected Latin American family, in which 28 of 63 members were affected in 4 generations. The index case was a 63-year-old woman who first presented with chin quivering in early childhood. Symptoms developed gradually without affecting chewing, swallowing, or speech articulation. Tremor disappeared during sleep and worsened with stress. Tremor was often triggered by gazing at flying objects, as was the case in several other affected family members. The movement disorder improved spontaneously, although not entirely, from ages 15 to 30, only to recur later and plateau in the mid-fifties. Even at peak severity, the tremor represented little more than a cosmetic impairment. Neurologic examination was otherwise normal.
Inheritance
Massaro (1894) noted a 'direct' mode of transmission of geniospasm; when the disorder skipped a generation, it did not appear in subsequent generations.
Reports of male-to-male transmission (e.g., Destee et al., 1997) suggest autosomal dominant inheritance of geniospasm.
Mapping
In a 4-generation British family with hereditary geniospasm, Jarman et al. (1997) conducted a genomewide genetic linkage study and obtained positive 2-point lod scores for 15 microsatellite markers on the pericentromeric region of chromosome 9. A maximum 2-point lod score of 5.24 at theta = 0.0 was obtained for the marker D9S1837. Construction of haplotypes defined the interval of 2.1 cM between flanking markers D9S1806 and D9S175, thus assigning the locus for geniospasm in this family to 9q13-q21. Hereditary geniospasm in a second British family was not linked to this region, indicating genetic heterogeneity.
Misc \- Triggered by anxiety or emotional upset \- Tranquilizers and anticonvulsants reduce the attacks \- Ameliorates with age Neuro \- Trembling chin \- Geniospasm \- Intermittent quivering of skin over the chin Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| GENIOSPASM 1 | c2931589 | 29,623 | omim | https://www.omim.org/entry/190100 | 2019-09-22T16:32:27 | {"mesh": ["C537682"], "omim": ["190100"], "orphanet": ["53372"], "synonyms": ["Alternative titles", "TREMBLING CHIN"]} |
2-aminoadipic 2-oxoadipic aciduria is a rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. Frequently, individuals are completely without clinical 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-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| 2-aminoadipic 2-oxoadipic aciduria | c1859817 | 29,624 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79154 | 2021-01-23T19:09:47 | {"omim": ["204750"], "icd-10": ["E72.3"], "synonyms": ["Alpha-aminoadipic aciduria"]} |
Food allergy triggered by fish
Fish allergy
Raw salmon steaks
FrequencyFish allergy frequency estimated at ~1.5% (self-reported, developed world)[1][2][3]
Fish allergy is an immune hypersensitivity to proteins found in fish. Symptoms can be either rapid or gradual in onset. The latter can take hours to days to appear. The former may include anaphylaxis, a potentially life-threatening condition which requires treatment with epinephrine. Other presentations may include atopic dermatitis or inflammation of the esophagus.[4] Fish is one of the eight common food allergens, responsible for 90% of allergic reactions to foods: cow's milk, eggs, wheat, shellfish, peanuts, tree nuts, fish, and soy beans.[5]
Unlike early childhood allergic reactions to milk and eggs, which often lessen as the children age,[6] fish allergy tends to first appear in school-age children and persist in adulthood.[7] Strong predictors for adult-persistence are anaphylaxis, high fish-specific serum immunoglobulin E (IgE) and robust response to the skin prick test. It is unclear if the early introduction of fish to the diet of babies aged 4–6 months decreases the risk of later development of fish allergy. Adult onset of fish allergy is common in workers in the fish catching and processing industry.[8][9]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Eating fish
* 2.2 Cross-contact
* 2.3 Fish parasite
* 2.4 Occupational exposure
* 2.5 Exercise as contributing factor
* 3 Mechanisms
* 3.1 Allergic response
* 3.2 Fish allergenic proteins
* 3.3 Non-allergic intolerance
* 4 Diagnosis
* 5 Prevention
* 6 Treatment
* 7 Prognosis
* 8 Epidemiology
* 9 Society and culture
* 9.1 Regulation of labelling
* 9.1.1 Ingredients intentionally added
* 10 See also
* 11 References
* 12 External links
## Signs and symptoms[edit]
Food allergies in general usually have a fast onset (from seconds to one hour).[10] Symptoms may include: rash, hives, itching of mouth, lips, tongue, throat, eyes, skin, or other areas, swelling of lips, tongue, eyelids, or the whole face, difficulty swallowing, runny or congested nose, hoarse voice, wheezing, shortness of breath, diarrhea, abdominal pain, lightheadedness, fainting, nausea, or vomiting.[10] Symptoms of allergies vary from person to person and may vary from incident to incident.[10] Serious danger regarding allergies can begin when the respiratory tract or blood circulation is affected. The former can be indicated by wheezing, a blocked airway and cyanosis, the latter by weak pulse, pale skin, and fainting. When these symptoms occur the allergic reaction is called anaphylaxis.[10] Anaphylaxis occurs when IgE antibodies are involved, and areas of the body that are not in direct contact with the food become affected and show severe symptoms.[10][11] Untreated, this can proceed to vasodilation, a low blood pressure situation called anaphylactic shock.[11]
## Causes[edit]
### Eating fish[edit]
The cause is typically the eating of fish or foods that contain fish. Once an allergic reaction has occurred it usually remains a lifelong sensitivity.[7] Briefly, the immune system overreacts to proteins found in fish, primarily to parvalbumin,[12] but sometimes to other proteins, such as fish collagen. The allergic reaction to shellfish and crustaceans such as lobster and shrimp is to a different protein, tropomyosin, so there is no cross-reactivity between fish and shellfish allergy.[12][13][14]
### Cross-contact[edit]
Cross-contact, also referred to as cross-contamination, occurs when foods are being processed in factories or at food markets, or are being prepared for cooking in restaurants and home kitchens. The allergenic proteins are transferred from one food to another.[15]
### Fish parasite[edit]
Uncoiled Anisakis nematode (approx. two centimeters) in raw salmon
The food-borne parasite Anisakis is a genus of nematodes known to be present in intermediate host salt-water fish, anadromous fish that travel from oceans to rivers to breed, and squid.[7][16] Anisakis are directly infective to humans when infected fish or squid is consumed raw or slightly processed, causing a condition called anisakiasis. Symptoms include severe abdominal pain, nausea, and vomiting.[16] In addition, there can be an allergic reaction to Anisakis proteins, even if the food in question was frozen, killing the nematodes, or cooked before being consumed, as some of the nematode proteins are resistant to heat.[17] Allergic reactions can include hives, asthma and true anaphylactic reactions.[7][16][18][19]
### Occupational exposure[edit]
An industry review conducted in 1990 estimated that 28.5 million people worldwide were engaged in some aspect of the seafood industry: fishing, aquaculture, processing and industrial cooking. Men predominate in fishing, women in processing facilities.[8] Exposure to fish allergenic proteins includes inhalation of wet aerosols from fresh fish handling, inhalation of dry aerosols from fishmeal processing, and dermal contact through skin breaks and cuts.[8][9] Prevalence of seafood-induced adult asthma is on the order of 10% (higher for crustaceans and lower for fish). Prevalence of skin allergy reactions, often characterized by itchy rash (hives), range from 3% to 11%. The fish-induced health outcomes are mainly due to the protein parvalbumin causing an IgE mediated immune system response.[8][9]
### Exercise as contributing factor[edit]
Exercise can be a contributing factor to an allergic food response. There is a condition called food-dependent, exercise-induced anaphylaxis. For people with this condition, exercise alone is not sufficient, nor consumption of a food to which they are mildly allergic sufficient, but when the food in question is consumed within a few hours before high intensity exercise, the result can be anaphylaxis. Fish are specifically mentioned as a causative food.[20][21][22] One theory is that exercise is stimulating the release of mediators such as histamine from IgE-activated mast cells.[22] Two of the reviews postulate that exercise is not essential for the development of symptoms, but rather that it is one of several augmentation factors, citing evidence that the culprit food in combination with alcohol or aspirin will result in a respiratory anaphylactic reaction.[20][22]
## Mechanisms[edit]
### Allergic response[edit]
Conditions caused by food allergies are classified into three groups according to the mechanism of the allergic response:[23]
1. IgE-mediated (classic) – the most common type, manifesting acute changes that occur shortly after eating, and may progress to anaphylaxis
2. Non-IgE mediated – characterized by an immune response not involving immunoglobulin E; may occur hours to days after eating, complicating diagnosis
3. IgE and non-IgE-mediated – a hybrid of the above two types
Allergic reactions are hyperactive responses of the immune system to generally innocuous substances, such as food proteins.[24] Why some proteins trigger allergic reactions while others do not is not entirely clear. One theory holds that proteins which resist digestion in the stomach, therefore reaching the small intestine relatively intact, are more likely to be allergenic, but studies have shown that digestion may abolish, decrease, have no effect, or even increase the allergenicity of food allergens.[25] The heat of cooking structurally degrades protein molecules, potentially making them less allergenic.[26][27]
Hypersensitivities are categorized according to the parts of the immune system that are attacked and the amount of time it takes for the response to occur. The four types of hypersensitivity reaction are: type 1, immediate IgE-mediated; type 2, cytotoxic; type 3, immune complex-mediated; and type 4, delayed cell-mediated.[28] The consequent pathophysiology of allergic responses can be divided into two time periods. The first is an acute response that occurs immediately after exposure to an allergen. This phase can either subside or progress into a "late-phase reaction" which can substantially prolong the symptoms of a response, and result in more tissue damage.
In the early stages of acute allergic reaction, lymphocytes previously sensitized to a specific protein or protein fraction react by quickly producing a particular type of antibody known as secreted IgE (sIgE), which circulates in the blood and binds to IgE-specific receptors on the surface of other kinds of immune cells called mast cells and basophils. Both of these are involved in the acute inflammatory response.[29] Activated mast cells and basophils undergo a process called degranulation, during which they release histamine and other inflammatory chemical mediators called (cytokines, interleukins, leukotrienes, and prostaglandins) into the surrounding tissue causing several systemic effects, such as vasodilation, mucous secretion, nerve stimulation, and smooth-muscle contraction.[29] This results in runny nose, itchiness, shortness of breath, and potentially anaphylaxis.[29] Depending on the individual, the allergen, and the mode of introduction, the symptoms can be system-wide (classical anaphylaxis), or localized to particular body systems; asthma is localized to the respiratory system while hives and eczema are localized to the skin.[29] In addition to reacting to oral consumption, skin reactions can be triggered by contact if there are skin abrasions or cuts.[8][9]
Hives allergic reaction on arm
After the chemical mediators of the acute response subside, late-phase responses can often occur due to the migration of other white blood cells such as neutrophils, lymphocytes, eosinophils, and macrophages to the initial reaction sites. This is usually seen 2–24 hours after the original reaction.[30] Cytokines from mast cells may also play a role in the persistence of long-term effects. Late-phase responses seen in asthma are slightly different from those seen in other allergic responses, although they are still caused by release of mediators from eosinophils.[31]
In addition to IgE-mediated responses, fish allergy can manifest as atopic dermatitis, especially in infants and young children.[32] Some will display both, so that a child could react to an oral food challenge with allergic symptoms, followed a day or two later with a flare up of atopic dermatitis and/or gastrointestinal symptoms, including allergic eosinophilic esophagitis.[33]
### Fish allergenic proteins[edit]
The protein parvalbumin has been identified as the major allergen causing fish allergy (but not shellfish allergy, which is caused by tropomyosin).[34][35][36][37] Parvalbumin is resistant to heat and enzymatic digestion, so cooking does not diminish its allergenic potency, nor do digestive enzymes.[38] Bony fishes manifest β-parvalbumin whereas cartilaginous fishes such as sharks and rays manifest α-parvalbumin; allergenicity to bony fishes has a low cross-reactivity to cartilaginous fishes.[35] In addition to β-parvalbumin, fish enolase, aldolase and collagen can also trigger allergic reactions.[13][38] Fish collagen is widely used in the food industry in foods such as gummy candies, jelly beans or marshmallows. It may also be marketed as a dietary supplement ingredient or as an inactive ingredient in pharmaceutical products. Standardized skin tests that incorporate parvalbumin for fish sensitivity will miss collagen allergy. People may be allergic to parvalbumin, collagen, or both.[39]
### Non-allergic intolerance[edit]
Histidine, the amino acid precursor to histamine
Histamine, the chemical structure shown, causes a person to feel itchy during an allergic reaction[40]
Scombroid food poisoning, also referred to as scrombroid, is a reaction from consuming fish that mimics an allergic reaction.[7][41][42][43] It is caused by high concentrations of histamine, synthesized by bacteria in spoiled fish. Histamine is the main natural chemical responsible for true allergic reactions, hence the confusion with fish allergy. Scombroid symptoms onset is typically 10-30 minutes after consumption, and may include flushed skin, headache, itchiness, blurred vision, abdominal cramps and diarrhea.[41] Fish commonly implicated include tuna, mackerel, sardine, anchovy, herring, bluefish, amberjack and marlin. These fish naturally have high levels of the amino acid histidine, which is converted to histamine when bacterial growth occurs during improper storage. Subsequent cooking, smoking, canning or freezing does not eliminate the histamine.[7][41][42][43]
## Diagnosis[edit]
Diagnosis of fish allergy is based on the person's history of allergic reactions, skin prick test and measurement of fish-specific serum immunoglobulin E (IgE or sIgE). Confirmation is by double-blind, placebo-controlled food challenges.[12] Self-reported fish allergy often fails to be confirmed by food challenge.[1]
## Prevention[edit]
When fish is introduced to a baby's diet, it is thought to affect risk of developing allergy, but there are contradictory recommendations. Reviews of allergens in general stated that introducing solid foods at 4–6 months may result in the lowest subsequent allergy risk.[44] Reviews specific to when fish is introduced to the diet state that fish consumption during the first year of life reduce the subsequent risks of eczema and allergic rhinitis,[44][45] but maternal consumption during pregnancy had no such effect.[45]
## Treatment[edit]
Treatment for accidental ingestion of fish products by allergic individuals varies depending on the sensitivity of the person. An antihistamine such as diphenhydramine may be prescribed. Sometimes prednisone will be prescribed to prevent a possible late phase Type I hypersensitivity reaction.[46] Severe allergic reactions (anaphalaxis) may require treatment with an epinephrine pen, which is an injection device designed to be used by a non-healthcare professional when emergency treatment is warranted.[47] Unlike for egg allergy, for which there is active research on trying oral immunotherapy (OIT) to desensitize people to egg allergens,[48] a 2015 review mentioned that there are no published clinical trials evaluating oral immunotherapy for fish allergy.[14]
## Prognosis[edit]
Unlike milk and egg allergies,[6][49] fish allergy usually persists into adulthood.[2][7]
## Epidemiology[edit]
Incidence and prevalence are terms commonly used in describing disease epidemiology. Incidence is newly diagnosed cases, which can be expressed as new cases per year per million people. Prevalence is the number of cases alive, expressible as existing cases per million people during a period of time.[50] Reviews cite self-reported fish allergy in range of 0 to 2.5% in the general population.[1][2][3] Self-reported allergy prevalence is always higher than food-challenge confirmed allergy, which two reviews put at 0.1% and 0.3%, respectively.[1][38]
## Society and culture[edit]
Whether food allergy prevalence is increasing or not, food allergy awareness has definitely increased, with impacts on the quality of life for children, their parents and their immediate caregivers.[51][52][53][54] In the United States, the Food Allergen Labeling and Consumer Protection Act of 2004 causes people to be reminded of allergy problems every time they handle a food package, and restaurants have added allergen warnings to menus. The Culinary Institute of America, a premier school for chef training, has courses in allergen-free cooking and a separate teaching kitchen.[55] School systems have protocols about what foods can be brought into the school. Despite all these precautions, people with serious allergies are aware that accidental exposure can easily occur at other peoples' houses, at school or in restaurants.[56] Food fear has a significant impact on quality of life.[53][54]
### Regulation of labelling[edit]
An example of "MAY CONTAIN TRACES OF..." as a means of listing trace amounts of allergens in a food product due to cross-contamination during manufacture.
In response to the risk that certain foods pose to those with food allergies, some countries have responded by instituting labeling laws that require food products to clearly inform consumers if their products contain major allergens or byproducts of major allergens among the ingredients intentionally added to foods. Nevertheless, there are no labeling laws to mandatory declare the presence of trace amounts in the final product as a consequence of cross-contamination.[57][58][59][60][61]
#### Ingredients intentionally added[edit]
In the United States, the Food Allergen Labeling and Consumer Protection Act of 2004 (FALCPA) requires companies to disclose on the label whether a packaged food product contains any of these eight major food allergens, added intentionally: cow's milk, peanuts, eggs, shellfish, fish, tree nuts, soy and wheat.[57] This list originated in 1999 from the World Health Organisation Codex Alimentarius Commission.[62] To meet FALCPA labeling requirements, if an ingredient is derived from one of the required-label allergens, then it must either have its "food sourced name" in parentheses, for example "Casein (milk)," or as an alternative, there must be a statement separate but adjacent to the ingredients list: "Contains milk" (and any other of the allergens with mandatory labeling).[57][59] The European Union requires listing for those eight major allergens plus molluscs, celery, mustard, lupin, sesame and sulfites.[58]
FALCPA applies to packaged foods regulated by the FDA, which does not include poultry, most meats, certain egg products, and most alcoholic beverages.[63] However, some meat, poultry, and egg processed products may contain allergenic ingredients. These products are regulated by the Food Safety and Inspection Service (FSIS), which requires that any ingredient be declared in the labeling only by its common or usual name. Neither the identification of the source of a specific ingredient in a parenthetical statement nor the use of statements to alert for the presence of specific ingredients, like "Contains: milk", are mandatory according to FSIS.[60][61] FALCPA also does not apply to food prepared in restaurants.[64][65] The EU Food Information for Consumers Regulation 1169/2011 requires food businesses to provide allergy information on food sold unpackaged. Examples would include by catering outlets and deli counters, bakeries and sandwich bars.[66]
## See also[edit]
* List of allergens (food and non-food)
## References[edit]
1. ^ a b c d Nwaru BI, Hickstein L, Panesar SS, Roberts G, Muraro A, Sheikh A (August 2014). "Prevalence of common food allergies in Europe: a systematic review and meta-analysis". Allergy. 69 (8): 992–1007. doi:10.1111/all.12423. PMID 24816523. S2CID 28692645.
2. ^ a b c Sharp MF, Lopata AL (June 2014). "Fish allergy: in review". Clin Rev Allergy Immunol. 46 (3): 258–71. doi:10.1007/s12016-013-8363-1. PMID 23440653. S2CID 26248686.
3. ^ a b Rona RJ, Keil T, Summers C, Gislason D, Zuidmeer L, Sodergren E, Sigurdardottir ST, Lindner T, Goldhahn K, Dahlstrom J, McBride D, Madsen C (September 2007). "The prevalence of food allergy: a meta-analysis". J. Allergy Clin. Immunol. 120 (3): 638–46. doi:10.1016/j.jaci.2007.05.026. PMID 17628647.
4. ^ National Report of the Expert Panel on Food Allergy Research, NIH-NIAID 2003 "June 30 2003.pdf" (PDF). Archived from the original (PDF) on 2006-10-04. Retrieved 2006-08-07.
5. ^ "Food Allergy Facts" Archived 2012-10-06 at the Wayback Machine Asthma and Allergy Foundation of America
6. ^ a b Urisu A, Ebisawa M, Ito K, Aihara Y, Ito S, Mayumi M, Kohno Y, Kondo N (2014). "Japanese Guideline for Food Allergy 2014". Allergol Int. 63 (3): 399–419. doi:10.2332/allergolint.14-RAI-0770. PMID 25178179.
7. ^ a b c d e f g Prester L (2016). "Seafood Allergy, Toxicity, and Intolerance: A Review". J Am Coll Nutr. 35 (3): 271–83. doi:10.1080/07315724.2015.1014120. PMID 26252073. S2CID 1154235.
8. ^ a b c d e Lopata AL, Jeebhay MF (June 2013). "Airborne seafood allergens as a cause of occupational allergy and asthma". Curr Allergy Asthma Rep. 13 (3): 288–97. doi:10.1007/s11882-013-0347-y. PMID 23575656. S2CID 1276304.
9. ^ a b c d Jeebhay MF, Robins TG, Lehrer SB, Lopata AL (September 2001). "Occupational seafood allergy: a review". Occup Environ Med. 58 (9): 553–62. doi:10.1136/oem.58.9.553. PMC 1740192. PMID 11511741.
10. ^ a b c d e MedlinePlus Encyclopedia: Food allergy
11. ^ a b Sicherer SH, Sampson HA (2014). "Food allergy: Epidemiology, pathogenesis, diagnosis, and treatment". J Allergy Clin Immunol. 133 (2): 291–307. doi:10.1016/j.jaci.2013.11.020. PMID 24388012.
12. ^ a b c Tong WS, Yuen AW, Wai CY, Leung NY, Chu KH, Leung PS (2018). "Diagnosis of fish and shellfish allergies". J Asthma Allergy. 11: 247–60. doi:10.2147/JAA.S142476. PMC 6181092. PMID 30323632.
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15. ^ "Avoiding Cross-Contact". FARE: Food Allergy Research & Education. Retrieved 5 December 2020.
16. ^ a b c Aibinu IE, Smooker PM, Lopata AL (August 2019). "Anisakis Nematodes in Fish and Shellfish- from infection to allergies". Int J Parasitol Parasites Wildl. 9: 384–93. doi:10.1016/j.ijppaw.2019.04.007. PMC 6626974. PMID 31338296.
17. ^ Morozińska-Gogol J (2019). "Anisakis spp. as etiological agent of zoonotic disease and allergy in European region – an overview". Ann Parasitol. 65 (4): 303–14. doi:10.17420/ap6504.214. PMID 32191412.
18. ^ Nieuwenhuizen NE, Lopata AL (August 2014). "Allergic reactions to Anisakis found in fish". Curr Allergy Asthma Rep. 14 (8): 455. doi:10.1007/s11882-014-0455-3. PMID 25039016. S2CID 1185184.
19. ^ Audicana MT, Kennedy MW (2008). "Anisakis Simplex: From Obscure Infectious Worm to Inducer of Immune Hypersensitivity". Clinical Microbiology Reviews. 21 (2): 360–79. doi:10.1128/CMR.00012-07. PMC 2292572. PMID 18400801.
20. ^ a b Feldweg AM (2017). "Food-Dependent, Exercise-Induced Anaphylaxis: Diagnosis and Management in the Outpatient Setting". J Allergy Clin Immunol Pract. 5 (2): 283–288. doi:10.1016/j.jaip.2016.11.022. PMID 28283153.
21. ^ Pravettoni V, Incorvaia C (2016). "Diagnosis of exercise-induced anaphylaxis: current insights". J Asthma Allergy. 9: 191–198. doi:10.2147/JAA.S109105. PMC 5089823. PMID 27822074.
22. ^ a b c Kim CW, Figueroa A, Park CH, Kwak YS, Kim KB, Seo DY, Lee HR (2013). "Combined effects of food and exercise on anaphylaxis". Nutr Res Pract. 7 (5): 347–51. doi:10.4162/nrp.2013.7.5.347. PMC 3796658. PMID 24133612.
23. ^ "Food allergy". NHS Choices. 16 May 2016. Retrieved 31 January 2017. "A food allergy is when the body's immune system reacts unusually to specific foods"
24. ^ McConnell, Thomas H. (2007). The Nature of Disease: Pathology for the Health Professions. Baltimore, MD: Lippincott Williams & Wilkins. p. 159. ISBN 978-0-7817-5317-3.
25. ^ Bøgh KL, Madsen CB (July 2016). "Food Allergens: Is There a Correlation between Stability to Digestion and Allergenicity?". Crit Rev Food Sci Nutr. 56 (9): 1545–67. doi:10.1080/10408398.2013.779569. PMID 25607526.
26. ^ Davis PJ, Williams SC (1998). "Protein modification by thermal processing". Allergy. 53 (46 Suppl): 102–5. doi:10.1111/j.1398-9995.1998.tb04975.x. PMID 9826012.
27. ^ Verhoeckx KC, Vissers YM, Baumert JL, Faludi R, Feys M, Flanagan S, Herouet-Guicheney C, Holzhauser T, Shimojo R, van der Bolt N, Wichers H, Kimber I (June 2015). "Food processing and allergenicity". Food Chem Toxicol. 80: 223–240. doi:10.1016/j.fct.2015.03.005. PMID 25778347.
28. ^ Nester, Eugene W.; Anderson, Denise G.; Roberts Jr, C. Evans; Nester, Martha T. (2009). "Immunologic Disorders". Microbiology: A Human Perspective (6th ed.). New York: McGraw-Hill. pp. 414–428.
29. ^ a b c d Janeway, Charles; Paul Travers; Mark Walport; Mark Shlomchik (2001). Immunobiology; Fifth Edition. New York and London: Garland Science. pp. e–book. ISBN 978-0-8153-4101-7. Archived from the original on 2009-06-28.
30. ^ Grimbaldeston MA, Metz M, Yu M, Tsai M, Galli SJ (2006). "Effector and potential immunoregulatory roles of mast cells in IgE-associated acquired immune responses". Curr. Opin. Immunol. 18 (6): 751–60. doi:10.1016/j.coi.2006.09.011. PMID 17011762.
31. ^ Holt PG, Sly PD (2007). "Th2 cytokines in the asthma late-phase response". Lancet. 370 (9596): 1396–8. doi:10.1016/S0140-6736(07)61587-6. PMID 17950849. S2CID 40819814.
32. ^ Bergmann MM, Caubet JC, Boguniewicz M, Eigenmann PA (January 2013). "Evaluation of food allergy in patients with atopic dermatitis". J Allergy Clin Immunol Pract. 1 (1): 22–8. doi:10.1016/j.jaip.2012.11.005. PMID 24229818.
33. ^ Ho MH, Wong WH, Chang C (June 2014). "Clinical spectrum of food allergies: a comprehensive review". Clin Rev Allergy Immunol. 46 (3): 225–40. doi:10.1007/s12016-012-8339-6. PMID 23229594.
34. ^ Leung NY, Wai CY, Shu S, Wang J, Kenny TP, Chu KH, Leung PS (June 2014). "Current immunological and molecular biological perspectives on seafood allergy: a comprehensive review". Clin Rev Allergy Immunol. 46 (3): 180–97. doi:10.1007/s12016-012-8336-9. PMID 23242979. S2CID 29615377.
35. ^ a b Stephen JN, Sharp MF, Ruethers T, Taki A, Campbell DE, Lopata AL (March 2017). "Allergenicity of bony and cartilaginous fish - molecular and immunological properties". Clin. Exp. Allergy. 47 (3): 300–12. doi:10.1111/cea.12892. PMID 28117510. S2CID 22539836.
36. ^ Sharp MF, Stephen JN, Kraft L, Weiss T, Kamath SD, Lopata AL (February 2015). "Immunological cross-reactivity between four distant parvalbumins-Impact on allergen detection and diagnostics". Mol. Immunol. 63 (2): 437–48. doi:10.1016/j.molimm.2014.09.019. PMID 25451973.
37. ^ Fernandes TJ, Costa J, Carrapatoso I, Oliveira MB, Mafra I (October 2017). "Advances on the molecular characterization, clinical relevance, and detection methods of Gadiform parvalbumin allergens". Crit Rev Food Sci Nutr. 57 (15): 3281–296. doi:10.1080/10408398.2015.1113157. PMID 26714098. S2CID 22118352.
38. ^ a b c Kourani E, Corazza F, Michel O, Doyen V (2019). "What Do We Know About Fish Allergy at the End of the Decade?". J Investig Allergol Clin Immunol. 29 (6): 414–21. doi:10.18176/jiaci.0381. PMID 30741635.
39. ^ Kalic T, Kamath SD, Ruethers T, Taki AC, et al. (May 2020). "Collagen-An Important Fish Allergen for Improved Diagnosis". J Allergy Clin Immunol Pract. 8 (9): 3084–3092.e10. doi:10.1016/j.jaip.2020.04.063. PMID 32389794.
40. ^ Green D, Dong X (April 2016). "The cell biology of acute itch". J Cell Biol. 213 (2): 155–61. doi:10.1083/jcb.201603042. PMC 4862869. PMID 27114499.
41. ^ a b c "Food Poisoning from Marine Toxins - Chapter 2 - 2018 Yellow Book". Centers for Disease Control and Prevention (CDC). 2017. Retrieved 15 July 2020.
42. ^ a b Ridolo E, Martignago I, Senna G, Ricci G (October 2016). "Scombroid syndrome: it seems to be fish allergy but... it isn't". Curr Opin Allergy Clin Immunol. 16 (5): 516–21. doi:10.1097/ACI.0000000000000297. PMID 27466827. S2CID 21610715.
43. ^ a b Feng C, Teuber S, Gershwin ME (February 2016). "Histamine (Scombroid) Fish Poisoning: a Comprehensive Review". Clin Rev Allergy Immunol. 50 (1): 64–69. doi:10.1007/s12016-015-8467-x. PMID 25876709. S2CID 34835091.
44. ^ a b Ferraro V, Zanconato S, Carraro S (May 2019). "Timing of Food Introduction and the Risk of Food Allergy". Nutrients. 11 (5): 1131. doi:10.3390/nu11051131. PMC 6567868. PMID 31117223.
45. ^ a b Zhang GQ, Liu B, Li J, Luo CQ, Zhang Q, Chen JL, Sinha A, Li ZY (March 2017). "Fish intake during pregnancy or infancy and allergic outcomes in children: A systematic review and meta-analysis". Pediatr Allergy Immunol. 28 (2): 152–61. doi:10.1111/pai.12648. PMID 27590571. S2CID 22656321.
46. ^ Tang AW (2003). "A practical guide to anaphylaxis". Am Fam Physician. 68 (7): 1325–1332. PMID 14567487.
47. ^ The EAACI Food Allergy and Anaphylaxis Guidelines Group (August 2014). "Anaphylaxis: guidelines from the European Academy of Allergy and Clinical Immunology". Allergy. 69 (8): 1026–45. doi:10.1111/all.12437. PMID 24909803. S2CID 11054771.
48. ^ Romantsik, O; Tosca, MA; Zappettini, S; Calevo, MG (20 April 2018). "Oral and sublingual immunotherapy for egg allergy". The Cochrane Database of Systematic Reviews. 4: CD010638. doi:10.1002/14651858.CD010638.pub3. PMC 6494514. PMID 29676439.
49. ^ Savage J, Johns CB (February 2015). "Food allergy: epidemiology and natural history". Immunology and Allergy Clinics of North America. 35 (1): 45–59. doi:10.1016/j.iac.2014.09.004. PMC 4254585. PMID 25459576.
50. ^ "What is Prevalence?" National Institute of Mental Health (Accessed 25 December 2020).
51. ^ Ravid NL, Annunziato RA, Ambrose MA, Chuang K, Mullarkey C, Sicherer SH, Shemesh E, Cox AL (2015). "Mental health and quality-of-life concerns related to the burden of food allergy". Psychiatr. Clin. North Am. 38 (1): 77–89. doi:10.1016/j.psc.2014.11.004. PMID 25725570.
52. ^ Morou Z, Tatsioni A, Dimoliatis ID, Papadopoulos NG (2014). "Health-related quality of life in children with food allergy and their parents: a systematic review of the literature". J Investig Allergol Clin Immunol. 24 (6): 382–95. PMID 25668890.
53. ^ a b Lange L (2014). "Quality of life in the setting of anaphylaxis and food allergy". Allergo J Int. 23 (7): 252–260. doi:10.1007/s40629-014-0029-x. PMC 4479473. PMID 26120535.
54. ^ a b van der Velde JL, Dubois AE, Flokstra-de Blok BM (2013). "Food allergy and quality of life: what have we learned?". Curr Allergy Asthma Rep. 13 (6): 651–61. doi:10.1007/s11882-013-0391-7. PMID 24122150. S2CID 326837.
55. ^ Culinary Institute of America Allergen-free oasis comes to the CIA (2017)
56. ^ Shah E, Pongracic J (2008). "Food-induced anaphylaxis: who, what, why, and where?". Pediatr Ann. 37 (8): 536–41. doi:10.3928/00904481-20080801-06. PMID 18751571.
57. ^ a b c "Food Allergen Labeling and Consumer Protection Act of 2004". FDA. August 2, 2004. Archived from the original on 2011-02-02.
58. ^ a b "Food allergen labelling and information requirements under the EU Food Information for Consumers Regulation No. 1169/2011: Technical Guidance" (April 2015).
59. ^ a b FDA (14 December 2017). "Have Food Allergies? Read the Label". Retrieved 14 January 2018.
60. ^ a b "Food Ingredients of Public Health Concern" (PDF). United States Department of Agriculture. Food Safety and Inspection Service. 7 March 2017. Retrieved 16 February 2018.
61. ^ a b "Allergies and Food Safety". United States Department of Agriculture. Food Safety and Inspection Service. 1 December 2016. Retrieved 16 February 2018.
62. ^ Allen KJ, Turner PJ, Pawankar R, Taylor S, Sicherer S, Lack G, Rosario N, Ebisawa M, Wong G, Mills EN, Beyer K, Fiocchi A, Sampson HA (2014). "Precautionary labelling of foods for allergen content: are we ready for a global framework?". World Allergy Organ J. 7 (1): 1–14. doi:10.1186/1939-4551-7-10. PMC 4005619. PMID 24791183.
63. ^ FDA (18 December 2017). "Food Allergies: What You Need to Know". Retrieved 12 January 2018.
64. ^ Roses JB (2011). "Food allergen law and the Food Allergen Labeling and Consumer Protection Act of 2004: falling short of true protection for food allergy sufferers". Food Drug Law J. 66 (2): 225–42, ii. PMID 24505841.
65. ^ FDA (18 July 2006). "Food Allergen Labeling And Consumer Protection Act of 2004 Questions and Answers". Retrieved 12 March 2018.
66. ^ "Allergy and intolerance: guidance for businesses". Archived from the original on 2014-12-08. Retrieved 2014-12-12.
## External links[edit]
Classification
D
* ICD-10: T78.0, T78.1, L23.6, L27.2, Z91.0
* v
* t
* e
Allergic conditions
Respiratory system
* Allergic rhinitis (hay fever)
* Asthma
* Hypersensitivity pneumonitis
* Eosinophilic pneumonia
* Eosinophilic granulomatosis with polyangiitis
* Allergic bronchopulmonary aspergillosis
* Farmer's lung
* Laboratory animal allergy
Skin
* Angioedema
* Urticaria
* Atopic dermatitis
* Allergic contact dermatitis
* Hypersensitivity vasculitis
Blood and immune system
* Serum sickness
Circulatory system
* Anaphylaxis
Digestive system
* Coeliac disease
* Eosinophilic gastroenteritis
* Eosinophilic esophagitis
* Food allergy
* Egg allergy
* Milk intolerance
Nervous system
* Eosinophilic meningitis
Genitourinary system
* Acute interstitial nephritis
Other conditions
* Drug allergy
* Allergic conjunctivitis
* Latex allergy
* v
* t
* e
Hypersensitivity and autoimmune diseases
Type I/allergy/atopy
(IgE)
Foreign
* Atopic eczema
* Allergic urticaria
* Allergic rhinitis (Hay fever)
* Allergic asthma
* Anaphylaxis
* Food allergy
* common allergies include: Milk
* Egg
* Peanut
* Tree nut
* Seafood
* Soy
* Wheat
* Penicillin allergy
Autoimmune
* Eosinophilic esophagitis
Type II/ADCC
* * IgM
* IgG
Foreign
* Hemolytic disease of the newborn
Autoimmune
Cytotoxic
* Autoimmune hemolytic anemia
* Immune thrombocytopenic purpura
* Bullous pemphigoid
* Pemphigus vulgaris
* Rheumatic fever
* Goodpasture syndrome
* Guillain–Barré syndrome
"Type V"/receptor
* Graves' disease
* Myasthenia gravis
* Pernicious anemia
Type III
(Immune complex)
Foreign
* Henoch–Schönlein purpura
* Hypersensitivity vasculitis
* Reactive arthritis
* Farmer's lung
* Post-streptococcal glomerulonephritis
* Serum sickness
* Arthus reaction
Autoimmune
* Systemic lupus erythematosus
* Subacute bacterial endocarditis
* Rheumatoid arthritis
Type IV/cell-mediated
(T cells)
Foreign
* Allergic contact dermatitis
* Mantoux test
Autoimmune
* Diabetes mellitus type 1
* Hashimoto's thyroiditis
* Multiple sclerosis
* Coeliac disease
* Giant-cell arteritis
* Postorgasmic illness syndrome
* Reactive arthritis
GVHD
* Transfusion-associated graft versus host disease
Unknown/
multiple
Foreign
* Hypersensitivity pneumonitis
* Allergic bronchopulmonary aspergillosis
* Transplant rejection
* Latex allergy (I+IV)
Autoimmune
* Sjögren syndrome
* Autoimmune hepatitis
* Autoimmune polyendocrine syndrome
* APS1
* APS2
* Autoimmune adrenalitis
* Systemic autoimmune disease
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Fish allergy | c0856904 | 29,625 | wikipedia | https://en.wikipedia.org/wiki/Fish_allergy | 2021-01-18T18:28:00 | {"wikidata": ["Q23037762"]} |
Multiple familial trichoepithelioma
Other namesBrooke–Spiegler syndrome and Epithelioma adenoides cysticum
SpecialtyDermatology
Multiple familial trichoepithelioma is a cutaneous condition characterized by multiple cystic and solid nodules appearing on the face.[1]:672
## Contents
* 1 Classification
* 2 Brooke–Spiegler syndrome
* 3 See also
* 4 References
## Classification[edit]
The classification of this syndrome is difficult. Three conditions are known to be caused by mutations in the CYLD gene: Brooke–Spiegler syndrome, multiple familial trichoepithelioma, and familial cylindromatosis. Clinically, these are distinct, but appear to arise from mutations in the same gene.
Types include:
Type OMIM Gene Locus
MFT1 601606 CYLD 16q12-q13
MFT2 612099 ? 9p21
## Brooke–Spiegler syndrome[edit]
Brooke–Spiegler syndrome (named after the dermatologists Henry Ambrose Grundy Brooke and Eduard Spiegler)[2] is a condition in which multiple skin tumors develop from skin structures. Tumors commonly occurring in this syndrome include spiradenomas, trichoepitheliomas, and cylindromas. The tumors are generally benign, but may become malignant. Affected individuals are also at increased risk of developing tumors in tissues other than skin – particularly benign or malignant tumors of the salivary glands.
Tumors in Brooke–Spiegler typically appear in early adulthood and are most often found on the head and neck. In severe cases, the tumors may affect vision or hearing. They can be disfiguring and may contribute to depression or other psychological problems. For unclear reasons, females are often more severely affected than males.
Brooke–Spiegler is rare and its exact incidence is unknown.
It is inherited in an autosomal dominant fashion.[3]
## See also[edit]
* Trichofolliculoma
* List of cutaneous conditions
* List of cutaneous neoplasms associated with systemic syndromes
## 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. ^ Dorland, W. A. Newman (2020). Dorland's Illustrated Medical Dictionary. Philadelphia, PA: Elsevier.
3. ^ http://omim.org/entry/605041
* 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
* v
* t
* e
Disorders of translation and posttranslational modification
Translation
* Ribosome: Diamond–Blackfan anemia
* FMR1
* Fragile X syndrome
* Fragile X-associated tremor/ataxia syndrome
* Premature ovarian failure 1
* Initiation factor: Leukoencephalopathy with vanishing white matter
* snRNP: Retinitis pigmentosa 33
Posttranslational modification
Protein folding
* Alzheimer's disease
* Huntington's disease
* Creutzfeldt–Jakob disease
* chaperonins: 3-Methylglutaconic aciduria 5
Protein targeting
* I-cell disease
Ubiquitin
* E1: X-linked spinal muscular atrophy 2
* E3: Johanson–Blizzard syndrome
* Von Hippel–Lindau disease
* 3-M syndrome
* Angelman syndrome
* Deubiquitinating enzyme: Machado–Joseph disease
* Aneurysmal bone cyst
* Multiple familial trichoepithelioma 1
SUMO
* OFC10
Other
* Multiple sulfatase deficiency
* Hyperproinsulinemia
* Ehlers–Danlos syndrome 6
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Multiple familial trichoepithelioma | c1275122 | 29,626 | wikipedia | https://en.wikipedia.org/wiki/Multiple_familial_trichoepithelioma | 2021-01-18T19:03:44 | {"gard": ["10867"], "mesh": ["C536611", "C536552"], "umls": ["C1275122"], "orphanet": ["79493", "867"], "wikidata": ["Q928767"]} |
Sebaceous glands that are present in most individuals
Not to be confused with angiokeratoma of Fordyce or Fox-Fordyce disease
Fordyce spots
Anatomical terminology
[edit on Wikidata]
Fordyce spots (also termed Fordyce granules)[1][2] are visible sebaceous glands that are present in most individuals. They appear on the genitals and/or on the face and in the mouth. They appear as small, painless, raised, pale, red or white spots or bumps 1 to 3 mm in diameter that may appear on the scrotum, shaft of the penis or on the labia, as well as the inner surface (retromolar mucosa) and vermilion border of the lips of the face. They are not associated with any disease or illness, nor are they infectious but rather they represent a natural occurrence on the body. No treatment is therefore required unless the individual has cosmetic concerns. Persons with this condition sometimes consult a dermatologist because they are worried they may have a sexually transmitted disease (especially genital warts) or some form of cancer.[3]
Some diseases may appear similar to Fordyce spots such as sexually transmitted diseases.[4]
## Contents
* 1 Presentation
* 2 Causes
* 3 Diagnosis
* 3.1 Classification
* 4 Treatment
* 5 Prognosis
* 6 Epidemiology
* 7 History
* 8 References
* 9 External links
## Presentation[edit]
Fordyce spots on lips
On the shaft of the penis, Fordyce spots are more visible when the skin is stretched, and may only be noticeable during an erection.[5] The spots can also appear on the skin of the scrotum.[5]
Oral Fordyce granules appear as rice-like granules, white or yellow-white in color. They are painless papules (small bumps), about 1–3 mm in greatest dimension. The most common site is along the line between the vermilion border and the oral mucosa of the upper lip, or on the buccal mucosa (inside the cheeks) in the commissural region,[1] often bilaterally. They may also occur on the mandibular retromolar pad and tonsillar areas, but any oral surface may be involved. There is no surrounding mucosal change. Some patients will have hundreds of granules while most have only one or two.
Occasionally, several adjacent glands will coalesce into a larger cauliflower-like cluster similar to sebaceous hyperplasia of the skin. In such an instance, it may be difficult to determine whether or not to diagnose the lesion as sebaceous hyperplasia or sebaceous adenoma. The distinction may be moot because both entities have the same treatment, although the adenoma has a greater growth potential. Sebaceous carcinoma of the oral cavity has been reported, presumably arising from Fordyce granules or hyperplastic foci of sebaceous glands.
In some persons with Fordyce spots, the glands express a thick, chalky discharge when squeezed.[5]
## Causes[edit]
Normally, sebaceous glands are only found in association with a hair follicle.
They appear to be more obvious in people with oily skin types, with some rheumatic disorders, and in hereditary nonpolyposis colorectal cancer.[1] In the latter, the most common site for Fordyce spots is the lower gingiva (gums) and vestibular mucosa.[1]
## Diagnosis[edit]
Large numbers of lobules coalescing into a definitely elevated mass may be called benign sebaceous hyperplasia, and occasional small keratin-filled pseudocysts may be seen and must be differentiated from epidermoid cyst or dermoid cyst with sebaceous adnexa. The pathologist must be careful to differentiate such lesions from salivary neoplasms with sebaceous cells, such as sebaceous lymphadenoma and sebaceous carcinoma.
Oral Fordyce granules are usually not biopsied because they are readily diagnosed clinically, but they are often seen as incidental findings of mucosal biopsies of the buccal, labial and retromolar mucosa. The granules are similar to normal sebaceous glands of the skin but lack hair follicles and almost always lack a ductal communication with the surface. The glands are located just beneath the overlying epithelium and often produce a local elevation of the epithelium. Individual sebaceous cells are large, with central dark nuclei and abundant foamy cytoplasm.
### Classification[edit]
Sebaceous glands are normal structures of the skin but may also be found ectopically in the mouth, where they are referred to as oral Fordyce granules or ectopic sebaceous glands. On the foreskin they are called Tyson's glands,[6] not to be confused with hirsuties coronae glandis.[7]
When they appear on the penis, they are also called penile sebaceous glands.[5]
When seen as a streak of individual glands along the interface between the skin of the lip and the vermilion border, the terms Fox–Fordyce disease and Fordyce's condition have been used.[citation needed]
## Treatment[edit]
Most doctors consider this a normal physiological phenomenon and advise against treatment.[8]
## Prognosis[edit]
Fordyce spots are completely benign[1] and require no treatment. They occur in 70 to 80 percent of adults.[citation needed] Often their presence is considered normal anatomic variance rather than a true medical condition.
## Epidemiology[edit]
This variation of normal anatomy is seen in the majority of adults. It is estimated about 80% of people have oral Fordyce spots,[1] but seldom are granules found in large numbers. They are not usually visible in children, and tend to appear at about age 3, then increasing during puberty and become more obvious in later adulthood.[1] They are more prominent in males.[1]
## History[edit]
They are named after an American dermatologist, John Addison Fordyce.[9]
## References[edit]
1. ^ a b c d e f g h Scully C (2013). Oral and maxillofacial medicine : the basis of diagnosis and treatment (3rd ed.). Edinburgh: Churchill Livingstone. pp. 170, 392. ISBN 978-0-7020-4948-4.
2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.[page needed]
3. ^ Palo Alto Medical Foundation Bettina McAdoo, M.D. Retrieved June 24, 2006.
4. ^ "Fordyce spots". DermNet NZ (in Afrikaans). Retrieved 2019-12-21. "The importance of recognising these papules as Fordyce spots is in the differential diagnosis of other conditions that may appear similar. Some sexually transmitted diseases (STDs) may start off looking like Fordyce spots on the genitals so it is essential to get a proper diagnosis from your doctor. STDs need to be treated appropriately with medication."
5. ^ a b c d Rane V, Read T (May 2013). "Penile appearance, lumps and bumps". Australian Family Physician. 42 (5): 270–4. PMID 23781523.
6. ^ derm/395 at eMedicine
7. ^ Khoo LS, Cheong WK (July 1995). "Common genital dermatoses in male patients attending a public sexually transmitted disease clinic aka(DC) in Singapore". Annals of the Academy of Medicine, Singapore. 24 (4): 505–9. PMID 8849177.
8. ^ Nordqvist, Christian (February 27, 2013). "What Are Fordyce Spots? What Causes Fordyce Spots?". Medical News Today.
9. ^ Fordyce first described this condition in 1896.synd/1510 at Who Named It?
## External links[edit]
* DermAtlas: Fordyce spots
* Fordyce spots
* v
* t
* e
Oral and maxillofacial pathology
Lips
* Cheilitis
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Periodontium (gingiva, periodontal ligament, cementum, alveolus) – Gums and tooth-supporting structures
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* Aggressive
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* Agnathia
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* Microgenia
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* Odontogenic: periapical
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* Prognathia
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Salivary glands
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* Benign: Basal cell adenoma
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* Microstomia
* Noma
* Oral Crohn's disease
* Orofacial granulomatosis
* Perioral dermatitis
* Pyostomatitis vegetans
Other
* Eagle syndrome
* Hemifacial hypertrophy
* Facial hemiatrophy
* Oral manifestations of systemic disease
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Fordyce spots | c0263639 | 29,627 | wikipedia | https://en.wikipedia.org/wiki/Fordyce_spots | 2021-01-18T18:36:17 | {"umls": ["C0263639"], "wikidata": ["Q1437103"]} |
Aagenaes syndrome, or lymphedema cholestasis syndrome (LSC1), is a form of idiopathic familial intrahepatic cholestasis associated with lymphedema of the lower extremities. At least some cases of Aagenaes syndrome have been attributed to mutations in the LSC1 gene on chromosome 15q. This condition is inherited in an autosomal recessive manner and is found mainly in individuals of Norwegian descent.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Aagenaes syndrome | c0268314 | 29,628 | gard | https://rarediseases.info.nih.gov/diseases/370/aagenaes-syndrome | 2021-01-18T18:02:24 | {"mesh": ["C535330"], "omim": ["214900"], "umls": ["C0268314"], "orphanet": ["1414"], "synonyms": ["Cholestasis lymphedema syndrome", "CHLS", "LCS", "LCS1", "Lymphedema cholestasis syndrome"]} |
Anisocoria
A large difference in the size of the pupils following application of Tropicamide in the right eye only.
Pronunciation
* /ænˌaɪsoʊˈkɔːriə/
SpecialtyOphthalmology
Anisocoria is a condition characterized by an unequal size of the eyes' pupils. Affecting up to 20% of the population, anisocoria is often entirely harmless, but can be a sign of more serious medical problems.
## Contents
* 1 Causes
* 2 Diagnosis
* 3 Popular culture
* 4 Etymology
* 5 See also
* 6 References
* 7 Further reading
* 8 External links
## Causes[edit]
Anisocoria is a common condition, defined by a difference of 0.4 mm or more between the sizes of the pupils of the eyes.[1]
Anisocoria has various causes:[2]
* Physiological anisocoria: About 20% of normal people have a slight difference in pupil size which is known as physiological anisocoria. In this condition, the difference between pupils is usually less than 1 mm.[3]
* Horner's syndrome
* Mechanical anisocoria: Occasionally previous trauma, eye surgery, or inflammation (uveitis, angle closure glaucoma) can lead to adhesions between the iris and the lens.
* Adie tonic pupil: Tonic pupil is usually an isolated benign entity, presenting in young women. It may be associated with loss of deep tendon reflex (Adie's syndrome). Tonic pupil is characterized by delayed dilation of iris especially after near stimulus, segmental iris constriction, and sensitivity of pupil to a weak solution of pilocarpine.
* Oculomotor nerve palsy: Ischemia, intracranial aneurysm, demyelinating diseases (e.g., multiple sclerosis), head trauma, and brain tumors are the most common causes of oculomotor nerve palsy in adults. In ischemic lesions of the oculomotor nerve, pupillary function is usually spared whereas in compressive lesions the pupil is involved.
* Pharmacological agents with anticholinergic or sympathomimetic properties will cause anisocoria, particularly if instilled in one eye. Some examples of pharmacological agents which may affect the pupils include pilocarpine, cocaine, tropicamide, MDMA, dextromethorphan, and ergolines.[4] Alkaloids present in plants of the genera Brugmansia and Datura, such as scopolamine, may also induce anisocoria.[5]
* Migraines[6]
## Diagnosis[edit]
Causes of anisocoria range from benign (normal) to life-threatening conditions. Clinically, it is important to establish whether anisocoria is more apparent in dim or bright light to clarify if the larger pupil or smaller pupil is the abnormal one.
* Anisocoria which is worsened (greater asymmetry between the pupils) in the dark suggests the small pupil (which should dilate in dark conditions) is the abnormal pupil and suggests Horner's syndrome or mechanical anisocoria. In Horner's syndrome sympathetic nerve fibers have a defect, therefore the pupil of the involved eye will not dilate in darkness. If the smaller pupil dilates in response to instillation of apraclonidine eye drops, this suggests Horner's syndrome is present.
* Anisocoria which is greater in bright light suggests the larger pupil (which should constrict in bright conditions) is the abnormal pupil. This may suggest Adie tonic pupil, pharmacologic dilation, oculomotor nerve palsy, or damaged iris.
A relative afferent pupillary defect (RAPD) also known as a Marcus Gunn pupil does not cause anisocoria.
Some of the causes of anisocoria are life-threatening, including Horner's syndrome (which may be due to carotid artery dissection) and oculomotor nerve palsy (due to a brain aneurysm, uncal herniation, or head trauma).
If the examiner is unsure whether the abnormal pupil is the constricted or dilated one, and if a one-sided drooping of the eyelid is present then the abnormally sized pupil can be presumed to be the one on the side of the ptosis. This is because Horner's syndrome and oculomotor nerve lesions both cause ptosis.
Anisocoria is usually a benign finding, unaccompanied by other symptoms (physiological anisocoria). Old face photographs of patients often help to diagnose and establish the type of anisocoria.
It should be considered an emergency if a patient develops acute onset anisocoria. These cases may be due to brain mass lesions which cause oculomotor nerve palsy. Anisocoria in the presence of confusion, decreased mental status, severe headache, or other neurological symptoms can forewarn a neurosurgical emergency. This is because a hemorrhage, tumor or another intracranial mass can enlarge to a size where the third cranial nerve (CN III) is compressed, which results in uninhibited dilatation of the pupil on the same side as the lesion.[7]
## Popular culture[edit]
* English singer David Bowie exhibited anisocoria, owing to a teenage injury.[8]
* In the season 10 Big Bang Theory Comic-Con special, Steve Molaro told a story about how he first met actor Judd Hirsch and was taken aback by his dilated pupil. One of the other writers researched it and discovered that Judd Hirsch has anisocoria.
* American actress Melissa Benoist developed this condition in 2015.
* American artist Ze Frank has the condition. He was listed as second author on a paper published in The Journal of Neuroscience,[9] which was featured briefly in episode 21 of the show named a show on May 25, 2012 called My Pupils, explaining that his study of neuroscience of vision was motivated by his harmless anisocoria condition.[10][11]
## Etymology[edit]
Anisocoria is composed of prefix, root and suffix:
* prefix: aniso- from the Greek language (meaning: unequal), which in turn comes from an: meaning not and iso: meaning equal
* the root word: cor, from the Greek word "korē" meaning: pupil of the eye
* -ia, which is a Latin suffix meaning: disease; pathological or abnormal condition
Thus, anisocoria means the condition of unequal pupil(s).
## See also[edit]
* Cycloplegia
* Miosis
* Mydriasis
* Parinaud's syndrome
## References[edit]
1. ^ Lam, BL; Thompson, HS; Corbett, JJ (Jul 15, 1987). "The prevalence of simple anisocoria". American Journal of Ophthalmology. 104 (1): 69–73. doi:10.1016/0002-9394(87)90296-0. PMID 3605282.
2. ^ John P.Whitcher; Paul Riordan-Eva (2007-10-18). Vaughan & Asbury's general ophthalmology (17th ed.). McGraw-Hill Medical. p. 293. ISBN 978-0071443142.
3. ^ London, Richard; Richrer Erringer, Ellen; Wyafr, Harry J. (March 1991). "Variation and Clinical Observation With Different Conditions of Illumination and Accommodation". Investigative Ophthalmology & Visual Science. 32 (3): 501–9.
4. ^ Anisocoria. Medscape Reference. Accessed April 15, 2012.
5. ^ . It is also seen in some people who consume diphenydramine (brand name "Benadryl") for an extended period of time, or if an astringent eye drop like Visine is used in one eye and not the other, often in concurrence with the presence of contact lenses.van der Donck, I.; Mulliez, E.; Blanckaert, J. (2004), "Angel's Trumpet (Brugmansia arborea) and mydriasis in a child - A case report", Bulletin de la Société Belge d'Ophtalmologie, 292: 53–56, ISSN 0081-0746
6. ^ "Anisocoria Differential Diagnoses". emedicine.medscape.com. Retrieved 3 June 2017.
7. ^ Medscape, online. "Anisocoria Clinical Presentation". Retrieved 25 November 2012.
8. ^ Hunt, Kevin (January 11, 2016). "The remarkable story behind David Bowie's most iconic feature". The Conversation. Retrieved January 17, 2016.
9. ^ Rozas C, Frank H, Heynen AJ, Morales B, Bear MF, Kirkwood A (2001). "Developmental inhibitory gate controls the relay of activity to the superficial layers of the visual cortex". J Neurosci. 21 (17): 6791–6801. PMID 11517267.
10. ^ My Pupils, episode 21 of a show
11. ^ "My Pupils". March 25, 2012.
## Further reading[edit]
* "Anisocoria." "Stedman's Medical Dictionary, 27th ed." (2000). ISBN 0-683-40007-X
* Victor, Maurice and Allan H. Ropper. "Adams and Victor's Principles of Neurology, 7th ed." (2001). ISBN 0-07-067497-3
## External links[edit]
Classification
D
* ICD-10: H57.0
* ICD-10-CM: H57.02
* ICD-9-CM: 379.41
* OMIM: 106240
* MeSH: D015875
* DiseasesDB: 724
External resources
* MedlinePlus: 003314
* eMedicine: emerg/29 neuro/479 oph/160
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Anisocoria | c0003079 | 29,629 | wikipedia | https://en.wikipedia.org/wiki/Anisocoria | 2021-01-18T18:35:29 | {"mesh": ["D015875"], "umls": ["C0003079"], "icd-9": ["379.41"], "icd-10": ["H57.0"], "wikidata": ["Q521953"]} |
A number sign (#) is used with this entry because of evidence that Cousin syndrome is caused by homozygous mutation in the TBX15 gene (604127) on chromosome 1p12.
Clinical Features
Among the 7 children of first-cousin Maghrebian parents, Cousin et al. (1982) described a brother and sister with a disorder consisting of congenital dwarfism, facial dysmorphism, and several skeletal anomalies, most strikingly bilateral agenesis of the alae (wings) of the scapula and hypoplasia of the alae of the ilium and acetabulum, resulting in hip dislocation. An auricular anomaly and cervical cutaneous diverticulum were illustrated. Moderate psychomotor retardation was also present. Cousin et al. (1982) suggested that this may represent a new autosomal recessive disorder.
The apparently recessive disorder reported by Elliott et al. (2000) as scapuloiliac dysostosis (see 169550) may be the same disorder as that reported by Cousin et al. (1982). Pelvis-shoulder dysplasia (169550) is a dominantly inherited condition with hypoplasia of the scapula and pelvis but with no craniocervical malformation.
Lausch et al. (2008) described 2 unrelated girls with Cousin syndrome, each born to consanguineous parents. Physical features included frontal bossing, narrow palpebral fissures with deep set globes and hypertelorism, strabismus, low set and posteriorly rotated ears, a short neck with redundant skin folds, and a low hairline. Skeletal features included fixed flexion at the elbow joints and leg shortening secondary to bilateral dislocation of the hips and hip flexion. Radiographic findings were hypoplastic scapulae and iliac bones, short femurs, humeroradial synostosis, and moderate brachydactyly. Both girls had normal intelligence. One patient had been given a diagnosis of campomelic dysplasia (114290); the other patient had been diagnosed with pelvis-shoulder dysplasia.
Molecular Genetics
By sequence analysis of the TBX15 gene in 2 unrelated girls with Cousin syndrome, Lausch et al. (2008) identified homozygosity for a different single-nucleotide deletion in each girl (604127.0001-604127.0002). Both deletions occurred at codon 344.
Animal Model
Lausch et al. (2008) identified the Tbx15-deficient mouse phenotype as a possible model of Cousin syndrome. Similar features included small overall size, hypoplastic scapula, and abnormalities of the cranial bones and cervical vertebrae.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature, disproportionate HEAD & NECK Face \- Facial hirsutism \- Micrognathia Ears \- Small, simple ears Eyes \- Microphthalmia \- Short palpebral fissures \- Microcornea Mouth \- Hypoglossia \- Cleft palate \- Thickened alveolar ridges CHEST External Features \- Bell-shaped chest Ribs Sternum Clavicles & Scapulae \- Hypoplastic scapulae \- Elongated clavicles GENITOURINARY External Genitalia (Male) \- Ambiguous genitalia External Genitalia (Female) \- Ambiguous genitalia Kidneys \- Hydronephrosis SKELETAL Spine \- Anterior rounding of vertebral bodies \- Prominent protruding coccyx Pelvis \- Hypoplastic iliac wings \- Hypoplastic ilia \- Hypoplastic ischia \- Hypoplastic pubic bone Limbs \- Rhizomelic limb shortening \- Mesomelic limb shortening \- Radial head dislocation \- Absent fibulae Hands \- Absent proximal finger flexion creases \- Camptodactyly \- Bilateral fifth finger clinodactyly \- Wrist flexion deformity Feet \- Club feet \- Syndactyly (2-3, 4-5) NEUROLOGIC Central Nervous System \- Hydrocephaly \- Hydranencephaly MOLECULAR BASIS \- Caused by mutation in the T-box 15 gene (TBX15, 604127.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| COUSIN SYNDROME | c1850040 | 29,630 | omim | https://www.omim.org/entry/260660 | 2019-09-22T16:23:36 | {"mesh": ["C535550"], "omim": ["260660"], "orphanet": ["93333"], "synonyms": ["Alternative titles", "CRANIOFACIAL DYSMORPHISM, HYPOPLASIA OF SCAPULA AND PELVIS, AND SHORT STATURE", "PELVISCAPULAR DYSPLASIA"]} |
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.
## Epidemiology
Prevalence is estimated to be 1-2 in 100,000 with significant geographical and ethnic variations.
## Clinical description
SCA2 presents in the 3rd or 4th decade (average age = 30 years; age range = 2-65 years). Parkinsonism is also a less common but well-documented manifestation. There is no distinct clinical feature that reliably distinguishes SCA2 from SCA1 although tremor and autonomic dysfunction are more common in SCA2. Disease course is similar in both SCA1 and SCA2 (see this term).
## Etiology
The disease is caused by mutations in the ataxin 2 gene ATXN2 (12q23-q24.1). The normal CAG repeat length is 15-24; repeats 35 and longer are associated with the clinical manifestations of SCA2.
## Prognosis
Prognosis is relatively good in most cases. Cases with disease duration of longer than 20 years have been described. However, in some cases, especially those with younger age of symptomatic disease onset (under 20 years), progression may be rapid.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Spinocerebellar ataxia type 2 | c0752121 | 29,631 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98756 | 2021-01-23T17:31:36 | {"gard": ["4072"], "mesh": ["D020754"], "omim": ["183090"], "umls": ["C0752121"], "icd-10": ["G11.2"], "synonyms": ["SCA2"]} |
## Clinical Features
Scott-Emuakpor et al. (1977) described a family in which 4 of 7 sibs (3 girls, 1 boy) were born with microcephaly, and later developed cataracts, severe spasticity, bilateral hip dislocation, kyphoscoliosis, and severe mental retardation (CAMFAK syndrome). On the father's side 10 persons, including a 17-year-old uncle of the patients, had died of amyotrophic lateral sclerosis (105400), which was apparently inherited as an autosomal dominant with incomplete penetrance. No signs of anterior horn cell disease were present in the 4 sibs.
Talwar and Smith (1989) presented evidence that the CAMFAK syndrome is a neurologic disease characterized by peripheral and central demyelination similar to that seen in Cockayne syndrome (216400).
Lowry et al. (1971) described brother and sister with cataract, microcephaly, arthrogryposis, and kyphosis (CAMAK syndrome). Low birth weight, cataracts noted at 3 weeks, progressive limitation of range of all joint motion, and progressive kyphosis were features. Dolman and Wright (1978) described the necropsy findings in the sister, who died at age 7. The child weighed only 7.6 kg and measured only 78 cm (crown heel). The face had a bird-like appearance, raising, perhaps, the possibility of Seckel dwarfism (210600). The brain weighed only 360 gm. The cerebellum was particularly small. Extensive calcification was found microscopically in both the cerebrum and the cerebellum.
Sugarman (1973) suggested that CAMAK syndrome might represent an early form of Cockayne syndrome. Winter (1989) felt almost certain that both CAMFAK and CAMAK syndromes represent early-onset Cockayne syndrome, with Pena-Shokeir syndrome type II (214150) as an alternative possibility.
Czeizel and Lowry (1990) likewise agreed that the CAMAK and CAMFAK syndromes are the same. They described a brother and sister with cataracts, microcephaly, mental retardation, and changes in the hips resembling Perthes disease. Classic galactosemia and galactokinase deficiency (230200) were ruled out. Martsolf syndrome (212720) likewise combines cataract and mental retardation.
Head \- Microcephaly Neuro \- Severe spasticity \- Severe mental retardation Inheritance \- Autosomal recessive Eyes \- Cataract Face \- Bird-like appearance Skel \- Arthrogryposis \- Kyphoscoliosis \- Bilateral hip dislocation Growth \- Low birth weight \- Failure to thrive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME | c1859312 | 29,632 | omim | https://www.omim.org/entry/212540 | 2019-09-22T16:30:03 | {"mesh": ["C537965"], "omim": ["212540"], "orphanet": ["1317"], "synonyms": ["Alternative titles", "CAMFAK SYNDROME"]} |
A rare nevus disorder characterized by the presence of epidermal nevi consisting of depigmented hypertrichosis manifesting with long, soft, white hair which grows from dilated follicles and follows Blaschko's lines, typically located on the scalp, neck, face, trunk and/or limbs. Association with hyperpigmented, hyperkeratotic linear epidermal nevi, macrocephaly, body asymmetry, sacral pit and koilonychia, as well as skeletal, ocular, and neurological abnormalities, has also been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Angora hair nevus | None | 29,633 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=370039 | 2021-01-23T17:35:23 | {"icd-10": ["Q82.5"], "synonyms": ["Schauder syndrome"]} |
A cold nodule is a thyroid nodule that does not produce thyroid hormone.[1] On a radioactive iodine uptake test a cold nodule takes up less radioactive material than the surrounding thyroid tissue.[1] A cold nodule may be malignant or benign. [1] On scintigraphy cold nodules do not show but are easily shown on ultrasound.[2] Figure 1 illustrates the basic anatomy of the thyroid gland.[3] The case shown in Figure 4 shows a cold nodule quite emphasized representation of the thyroid. The investigation was carried out due to a goiter rating of 3. Striking was the discrepancy between the magnification sonographically depicted the thyroid lobe and the findings in the scintigraphy; the lower part of the right lobe and the lateral part of the left missing in the bone scan, although demonstrably thyroid tissue is present there sonographically. This imperfective representation for thyroid tissue is the characteristic of "cold node". "Cold nodule" in older women usually benign and 15-20% Malignant. And in Men or child cancer until proven otherwise.
* Fig. 1
Anatomy of the thyroid
* Fig. 2
Ultrasonic: Cross section of the right lobe
* Fig. 3
Ultrasonic: Cross section of the thyroid
* Fig. 4
Cold nodules
## See also[edit]
* Thyroid nodule
* Colloid nodule
## References[edit]
1. ^ a b c "NCI Dictionary of Cancer Terms". National Cancer Institute.
2. ^ Gerd Herold: Innere Medizin. Köln 2013, ISBN 978-3-9814660-2-7. S. 747.
3. ^ Fehrenbach; Herring (2012). Illustrated Anatomy of the Head and Neck. Elsevier. p. 158. ISBN 978-1-4377-2419-6.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Cold nodule | c1333077 | 29,634 | wikipedia | https://en.wikipedia.org/wiki/Cold_nodule | 2021-01-18T18:36:04 | {"wikidata": ["Q1722690"]} |
For other uses, see Cardiac arrest (disambiguation).
Sudden stop in effective blood flow due to the failure of the heart to contract effectively
Cardiac arrest
Other namesCardiopulmonary arrest, circulatory arrest, sudden cardiac arrest (SCA), sudden cardiac death (SCD)[1]
CPR being administered during a simulation of cardiac arrest.
SpecialtyCardiology, emergency medicine
SymptomsLoss of consciousness, abnormal or no breathing[1][2]
Usual onsetOlder age[3]
CausesCoronary artery disease, congenital heart defect, major blood loss, lack of oxygen, very low potassium, heart failure[4]
Diagnostic methodFinding no pulse[1]
PreventionNot smoking, physical activity, maintaining a healthy weight, healthy eating[5]
TreatmentCardiopulmonary resuscitation (CPR), defibrillation[6]
PrognosisSurvival rate ~ 10% (outside of hospital) 25% (in hospital)[7][8]
Frequency13 per 10,000 people per year (outside hospital in the US)[9]
Deaths> 425,000 per year (U.S.)[10]
Cardiac arrest is a sudden loss of blood flow resulting from the failure of the heart to pump effectively.[11] Signs include loss of consciousness and abnormal or absent breathing.[1][2] Some individuals may experience chest pain, shortness of breath, or nausea before cardiac arrest.[2] If not treated within minutes, it typically leads to death.[11]
The most common cause of cardiac arrest is coronary artery disease.[4] Less common causes include major blood loss, lack of oxygen, very low potassium, heart failure, and intense physical exercise.[4] A number of inherited disorders may also increase the risk including long QT syndrome.[4] The initial heart rhythm is most often ventricular fibrillation.[4] The diagnosis is confirmed by finding no pulse.[1] While a cardiac arrest may be caused by heart attack or heart failure, these are not the same.[11]
Prevention includes not smoking, physical activity, and maintaining a healthy weight.[5] Treatment for cardiac arrest includes immediate cardiopulmonary resuscitation (CPR) and, if a shockable rhythm is present, defibrillation.[6] Among those who survive, targeted temperature management may improve outcomes.[12][13] An implantable cardiac defibrillator may be placed to reduce the chance of death from recurrence.[5]
In the United States, approximately 535,000 cases occur a year.[9] About 13 per 10,000 people (326,000 or 61%) experience cardiac arrest outside of a hospital setting, while 209,000 (39%) occur within a hospital.[9] Cardiac arrest becomes more common with age.[3] It affects males more often than females.[3] The percentage of people who survive out of hospital cardiac arrest with treatment by emergency medical services is about 8%.[7] Many who survive have significant disability.[7] However, many American television programs have portrayed unrealistically high survival rates of 67%.[7]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Coronary artery disease
* 2.2 Structural heart disease
* 2.3 Inherited arrhythmia syndromes
* 2.4 Non-cardiac causes
* 2.5 Mnemonic for reversible causes
* 2.6 Children
* 2.7 Risk factors
* 3 Mechanism
* 4 Diagnosis
* 4.1 Classifications
* 5 Prevention
* 5.1 Code teams
* 5.2 Implantable cardioverter defibrillator
* 5.3 Diet
* 6 Management
* 6.1 Cardiopulmonary resuscitation
* 6.2 Defibrillation
* 6.3 Medications
* 6.4 Targeted temperature management
* 6.5 Do not resuscitate
* 6.6 Chain of survival
* 6.7 Other
* 7 Prognosis
* 8 Epidemiology
* 9 Society and culture
* 9.1 Names
* 9.2 Slow code
* 10 References
* 11 External links
## Signs and symptoms[edit]
Cardiac arrest is not preceded by any warning symptoms in approximately 50 percent of people.[14] For those who do experience symptoms, they will be non-specific, such as new or worsening chest pain, fatigue, blackouts, dizziness, shortness of breath, weakness and vomiting.[15][16] When cardiac arrest occurs, the most obvious sign of its occurrence will be the lack of a palpable pulse in the victim. Also, as a result of loss of cerebral perfusion (blood flow to the brain), the victim will rapidly lose consciousness and will stop breathing. The main criterion for diagnosing a cardiac arrest, as opposed to respiratory arrest, which shares many of the same features, is lack of circulation; however, there are a number of ways of determining this. Near-death experiences are reported by 10 to 20 percent of people who survived cardiac arrest.[17]
Certain types of prompt intervention can often reverse a cardiac arrest, but without such intervention, death is all but certain.[18] In certain cases, cardiac arrest is an anticipated outcome of a serious illness where death is expected.[19]
## Causes[edit]
Conduction system of heart
Sudden cardiac arrest (SCA) and sudden cardiac death (SCD) occur when the heart abruptly begins to beat in an abnormal or irregular rhythm (arrhythmia).[20] Without organized electrical activity in the heart muscle, there is no consistent contraction of the ventricles, which results in the heart's inability to generate an adequate cardiac output (forward pumping of blood from heart to rest of the body).[21] There are many different types of arrhythmias, but the ones most frequently recorded in SCA and SCD are ventricular tachycardia (VT) or ventricular fibrillation (VF).[22] Less common causes of dysrhythmias in cardiac arrest include pulseless electrical activity (PEA) or asystole.[20] Such rhythms are seen when there is prolonged cardiac arrest, progression of ventricular fibrillation, or due to efforts such as defibrillation to resuscitate the person.[20]
Sudden cardiac arrest can result from cardiac and non-cardiac causes including the following:
### Coronary artery disease[edit]
Coronary artery disease (CAD), also known as ischemic heart disease, is responsible for 62 to 70 percent of all SCDs.[23][24] CAD is a much less frequent cause of SCD in people under the age of 40.[23]
Cases have shown that the most common finding at postmortem examination of sudden cardiac death (SCD) is chronic high-grade stenosis of at least one segment of a major coronary artery, the arteries that supply the heart muscle with its blood supply.[25]
### Structural heart disease[edit]
Structural heart diseases not related to CAD account for 10% of all SCDs.[21][24] Examples of these include: cardiomyopathies (hypertrophic, dilated, or arrythmogenic), cardiac rhythm disturbances, congenital coronary artery anomalies, myocarditis, hypertensive heart disease,[26] and congestive heart failure.[27]
Left ventricular hypertrophy is thought to be a leading cause of SCD in the adult population.[28][20] This is most commonly the result of longstanding high blood pressure which has caused secondary damage to the wall of the main pumping chamber of the heart, the left ventricle.[29]
A 1999 review of SCDs in the United States found that this accounted for over 30% of SCDs for those under 30 years. A study of military recruits age 18-35 found that this accounted for over 40% of SCDs.[23][24]
Congestive heart failure increases the risk of SCD fivefold.[27]
### Inherited arrhythmia syndromes[edit]
Arrhythmias that are not due to structural heart disease account for 5 to 10% of sudden cardiac arrests.[30][31][32] These are frequently caused by genetic disorders that lead to abnormal heart rhythms.[20] The genetic mutations often affect specialised proteins known as ion channels that conduct electrically charged particles across the cell membrane, and this group of conditions are therefore often referred to as channelopathies. Examples of these inherited arrhythmia syndromes include Long QT syndrome, Brugada Syndrome, Catecholaminergic polymorphic ventricular tachycardia, and Short QT syndrome. Other conditions that promote arrhythmias but are not caused by genetic mutations include Wolff-Parkinson-White syndrome.[21]
Long QT syndrome, a condition often mentioned in young people's deaths, occurs in one of every 5000 to 7000 newborns and is estimated to be responsible for 3000 deaths each year compared to the approximately 300,000 cardiac arrests seen by emergency services.[33] These conditions are a fraction of the overall deaths related to cardiac arrest but represent conditions which may be detected prior to arrest and may be treatable.
### Non-cardiac causes[edit]
SCA due to non-cardiac causes accounts for the remaining 15 to 25%.[32][34] The most common non-cardiac causes are trauma, major bleeding (gastrointestinal bleeding, aortic rupture, or intracranial hemorrhage), hypovolemic shock, overdose, drowning, and pulmonary embolism.[34][35][36] Cardiac arrest can also be caused by poisoning (for example, by the stings of certain jellyfish), or through electrocution, lightning.[20]
### Mnemonic for reversible causes[edit]
Main article: Hs and Ts
"Hs and Ts" is the name for a mnemonic used to aid in remembering the possible treatable or reversible causes of cardiac arrest.[37][38][39]
Hs
* Hypovolemia – A lack of blood volume
* Hypoxia – A lack of oxygen
* Hydrogen ions (Acidosis) – An abnormal pH in the body
* Hyperkalemia or Hypokalemia – Both increased or decreased potassium can be life-threatening.
* Hypothermia – A low core body temperature
* Hypoglycemia or Hyperglycemia – Low or high blood glucose
Ts
* Tablets or Toxins such as drug overdose
* Cardiac Tamponade – Fluid building up around the heart
* Tension pneumothorax – A collapsed lung
* Thrombosis (Myocardial infarction) – Heart attack
* Thromboembolism (Pulmonary embolism) – A blood clot in the lung
* Traumatic cardiac arrest
### Children[edit]
In children, the most common cause of cardiopulmonary arrest is shock or respiratory failure that has not been treated, rather than a heart arrhythmia.[20] When there is a cardiac arrhythmia, it is most often asystole or bradycardia, in contrast to ventricular fibrillation or tachycardia as seen in adults.[20] Other causes can include drugs such as cocaine, methamphetamine, or overdose of medications such as antidepressants in a child who was previously healthy but is now presenting with a dysrhythmia that has progressed to cardiac arrest.[20]
### Risk factors[edit]
The risk factors for SCD are similar to those of coronary artery disease and include age, cigarette smoking, high blood pressure, high cholesterol, lack of physical exercise, obesity, diabetes, and family history.[40] A prior episode of sudden cardiac arrest also increases the risk of future episodes.[41]
Air pollution is also associated with the risk of cardiac arrest.[42] Current cigarette smokers with coronary artery disease were found to have a two to threefold increase in the risk of sudden death between ages 30 and 59. Furthermore, it was found that former smokers’ risk was closer to that of those who had never smoked.[14][43]
## Mechanism[edit]
Ventricular fibrillation
The mechanism responsible for the majority of sudden cardiac deaths is ventricular fibrillation.[4] Structural changes in the diseased heart as a result of inherited factors (mutations in ion-channel coding genes for example) cannot explain the suddenness of SCD.[44] Also, sudden cardiac death could be the consequence of electric-mechanical disjunction and bradyarrhythmias.[45][46]
## Diagnosis[edit]
Cardiac arrest is synonymous with clinical death.[47] Historical information and a physical exam diagnosis cardiac arrest, as well as provides information regarding the potential cause and the prognosis.[20] The history should aim to determine if the episode was observed by anyone else, what time the episode took place, what the person was doing (in particular if there was any trauma), and involvement of drugs.[20]
The physical examination portion of diagnosis cardiac arrest focuses on the absence of a pulse clinically.[20] In many cases lack of carotid pulse is the gold standard for diagnosing cardiac arrest, as lack of a pulse (particularly in the peripheral pulses) may result from other conditions (e.g. shock), or simply an error on the part of the rescuer.[48] Nonetheless, studies have shown that rescuers often make a mistake when checking the carotid pulse in an emergency, whether they are healthcare professionals[48] or lay persons.[49]
Owing to the inaccuracy in this method of diagnosis, some bodies such as the European Resuscitation Council (ERC) have de-emphasised its importance. The Resuscitation Council (UK), in line with the ERC's recommendations and those of the American Heart Association,[47] have suggested that the technique should be used only by healthcare professionals with specific training and expertise, and even then that it should be viewed in conjunction with other indicators such as agonal respiration.[50]
Various other methods for detecting circulation have been proposed. Guidelines following the 2000 International Liaison Committee on Resuscitation (ILCOR) recommendations were for rescuers to look for "signs of circulation", but not specifically the pulse.[47] These signs included coughing, gasping, colour, twitching, and movement.[51] However, in face of evidence that these guidelines were ineffective, the current recommendation of ILCOR is that cardiac arrest should be diagnosed in all casualties who are unconscious and not breathing normally.[47] Another method is to use molecular autopsy or postmortem molecular testing which uses a set of molecular techniques to find the ion channels that are cardiac defective.[52]
Other physical findings can help determine the potential cause of the cardiac arrest.[20]
Physical findings related to potential causes[20] Location Findings Possible Causes
General Pale skin Hemorrhage
Decreased body temperature Hypothermia
Airway Presence of secretions, vomit, blood Aspiration
Inability to provide positive pressure ventilation Tension pneumothorax
Airway obstruction
Neck Distension of the neck veins Tension pneumothorax
Cardiac tamponade
Pulmonary embolism
Trachea shifted to one side Tension pneumothorax
Chest Scar in the middle of the sternum Cardiac disease
Lungs Breath sounds only on one side Tension pneumothorax
Right mainstem intubation
Aspiration
No breath sounds or distant breath sounds Esophageal intubation
Airway obstruction
Wheezing Aspiration
Bronchospasm
Pulmonary edema
Rales Aspiration
Pulmonary edema
Pneumonia
Heart Decreased heart sounds Hypovolemia
Cardiac tamponade
Tension pneumothorax
Pulmonary embolus
Abdomen Distended and dull Ruptured abdominal aortic aneurysm
Ruptured ectopic pregnancy
Distended and tympanic Esophageal intubation
Rectal Blood present Gastrointestinal hemorrhage
Extremities Asymmetrical pulses Aortic dissection
Skin Needle tracks Drug abuse
### Classifications[edit]
Clinicians classify cardiac arrest into "shockable" versus "non-shockable", as determined by the ECG rhythm. This refers to whether a particular class of cardiac dysrhythmia is treatable using defibrillation.[50] The two "shockable" rhythms are ventricular fibrillation and pulseless ventricular tachycardia while the two "non-shockable" rhythms are asystole and pulseless electrical activity.[53]
## Prevention[edit]
With positive outcomes following cardiac arrest unlikely, an effort has been spent in finding effective strategies to prevent cardiac arrest. With the prime causes of cardiac arrest being ischemic heart disease, efforts to promote a healthy diet, exercise, and smoking cessation are important. For people at risk of heart disease, measures such as blood pressure control, cholesterol lowering, and other medico-therapeutic interventions are used.[1] A Cochrane review published in 2016 found moderate-quality evidence to show that blood pressure-lowering drugs do not appear to reduce sudden cardiac death.[54]
### Code teams[edit]
In medical parlance, cardiac arrest is referred to as a "code" or a "crash". This typically refers to "code blue" on the hospital emergency codes. A dramatic drop in vital sign measurements is referred to as "coding" or "crashing", though coding is usually used when it results in cardiac arrest, while crashing might not. Treatment for cardiac arrest is sometimes referred to as "calling a code".
People in general wards often deteriorate for several hours or even days before a cardiac arrest occurs.[50][55] This has been attributed to a lack of knowledge and skill amongst ward-based staff, in particular, a failure to carry out measurement of the respiratory rate, which is often the major predictor of a deterioration[50] and can often change up to 48 hours prior to a cardiac arrest. In response to this, many hospitals now have increased training for ward-based staff. A number of "early warning" systems also exist which aim to quantify the person's risk of deterioration based on their vital signs and thus provide a guide to staff. In addition, specialist staff are being used more effectively in order to augment the work already being done at ward level. These include:
* Crash teams (or code teams) – These are designated staff members with particular expertise in resuscitation who are called to the scene of all arrests within the hospital. This usually involves a specialized cart of equipment (including defibrillator) and drugs called a "crash cart" or "crash trolley".
* Medical emergency teams – These teams respond to all emergencies, with the aim of treating the people in the acute phase of their illness in order to prevent a cardiac arrest. These teams have been found to decrease the rates of in-hospital cardiac arrest and improve survival.[9]
* Critical care outreach – As well as providing the services of the other two types of team, these teams are also responsible for educating non-specialist staff. In addition, they help to facilitate transfers between intensive care/high dependency units and the general hospital wards. This is particularly important, as many studies have shown that a significant percentage of patients discharged from critical care environments quickly deteriorate and are re-admitted; the outreach team offers support to ward staff to prevent this from happening.[citation needed]
### Implantable cardioverter defibrillator[edit]
Illustration of implantable cardioverter defibrillator (ICD)
An implantable cardioverter defibrillator (ICD) is a battery-powered device that monitors electrical activity in the heart and when an arrhythmia or asystole is detected is able to deliver an electrical shock to terminate the abnormal rhythm. ICDs are used to prevent sudden cardiac death (SCD) in those that have survived a prior episode of sudden cardiac arrest (SCA) due to ventricular fibrillation or ventricular tachycardia (secondary prevention).[56] ICD's are also used prophylactically to prevent sudden cardiac death in certain high risk patient populations (primary prevention).[57]
Numerous studies have been conducted on the use of ICDs for the secondary prevention of SCD. These studies have shown improved survival with ICD's compared to the use of anti-arrhythmic drugs.[56] ICD therapy is associated with a 50% relative risk reduction in death caused by an arrhythmia and a 25% relative risk reduction in all cause mortality.[58]
Primary prevention of SCD with ICD therapy for high-risk patient populations has similarly shown improved survival rates in a number of large studies. The high-risk patient populations in these studies were defined as those with severe ischemic cardiomyopathy (determined by a reduced left ventricular ejection fraction (LVEF)). The LVEF criteria used in these trials ranged from less than or equal to 30% in MADIT-II to less than or equal to 40% in MUSTT.[56][57]
### Diet[edit]
Marine-derived omega-3 polyunsaturated fatty acids (PUFAs) have been promoted for the prevention of sudden cardiac death due to their postulated ability to lower triglyceride levels, prevent arrhythmias, decrease platelet aggregation, and lower blood pressure.[59] However, according to a recent systematic review, omega-3 PUFA supplementation are not being associated with a lower risk of sudden cardiac death.[60]
## Management[edit]
Sudden cardiac arrest may be treated via attempts at resuscitation. This is usually carried out based upon basic life support, advanced cardiac life support (ACLS), pediatric advanced life support (PALS), or neonatal resuscitation program (NRP) guidelines.[47][61]
### Cardiopulmonary resuscitation[edit]
Early cardiopulmonary resuscitation (CPR) is essential to surviving cardiac arrest with good neurological function.[62][20] It is recommended that it be started as soon as possible with minimal interruptions once begun. The components of CPR that make the greatest difference in survival are chest compressions and defibrillating shockable rhythms.[39] After defibrillation, chest compressions should be continued for two minutes before a rhythm check is again done.[20] This is based on a compression rate of 100-120 compressions per minute, a compression depth of 5–6 centimeters into the chest, full chest recoil, and a ventilation rate of 10 breath ventilations per minute.[20] Correctly performed bystander CPR has been shown to increase survival; however, it is performed in less than 30% of out of hospital arrests as of 2007[update].[63] If high-quality CPR has not resulted in return of spontaneous circulation and the person's heart rhythm is in asystole, discontinuing CPR and pronouncing the person's death is reasonable after 20 minutes.[64] Exceptions to this include certain cases with hypothermia or who have drowned.[39][64] Some of these cases should have longer and more sustained CPR until they are nearly normothermic.[39] Longer durations of CPR may be reasonable in those who have cardiac arrest while in hospital.[65] Bystander CPR, by the lay public, before the arrival of EMS also improves outcomes.[9]
Either a bag valve mask or an advanced airway may be used to help with breathing particularly since vomiting and regurgitation are common, particularly in out-of-hospital cardiac arrest (OHCA).[66][67][68] If this occurs, then modification to existing oropharyngeal suction may be required, such as the use of Suction Assisted Laryngoscopy Airway Decontamination.[69] High levels of oxygen are generally given during CPR.[66] Tracheal intubation has not been found to improve survival rates or neurological outcome in cardiac arrest[63][70] and in the prehospital environment may worsen it.[71] Endotracheal tube and supraglottic airways appear equally useful.[70] When done by EMS 30 compressions followed by two breaths appear better than continuous chest compressions and breaths being given while compressions are ongoing.[72]
For bystanders, CPR which involves only chest compressions results in better outcomes as compared to standard CPR for those who have gone into cardiac arrest due to heart issues.[72] Mechanical chest compressions (as performed by a machine) are no better than chest compressions performed by hand.[66] It is unclear if a few minutes of CPR before defibrillation results in different outcomes than immediate defibrillation.[73] If cardiac arrest occurs after 20 weeks of pregnancy someone should pull or push the uterus to the left during CPR.[74] If a pulse has not returned by four minutes emergency Cesarean section is recommended.[74]
### Defibrillation[edit]
An automated external defibrillator stored in a visible orange mural support
Defibrillation is indicated if a shockable rhythm is present. The two shockable rhythms are ventricular fibrillation and pulseless ventricular tachycardia. In children 2 to 4 J/Kg is recommended.[75]
In addition, there is increasing use of public access defibrillation. This involves placing an automated external defibrillator in public places, and training staff in these areas how to use them. This allows defibrillation to take place prior to the arrival of emergency services and has been shown to lead to increased chances of survival. Some defibrillators even provide feedback on the quality of CPR compressions, encouraging the lay rescuer to press the person's chest hard enough to circulate blood.[76] In addition, it has been shown that those who have arrests in remote locations have worse outcomes following cardiac arrest.[77]
### Medications[edit]
Lipid emulsion as used in cardiac arrest due to local anesthetic agents
As of 2016[update], medications other than epinephrine (adrenaline), while included in guidelines, have not been shown to improve survival to hospital discharge following out-of-hospital cardiac arrest.[39] This includes the use of atropine, lidocaine, and amiodarone.[78][79][80][81][82][39] Epinephrine in adults, as of 2019, appears to improve survival but does not appear to improve neurologically normal survival.[83][84][85] It is generally recommended every five minutes.[66] Vasopressin overall does not improve or worsen outcomes compared to epinephrine.[66] The combination of epinephrine, vasopressin, and methylprednisolone appears to improve outcomes.[86] Some of the lack of long-term benefit may be related to delays in epinephrine use.[87] While evidence does not support its use in children, guidelines state its use is reasonable.[75][39] Lidocaine and amiodarone are also deemed reasonable in children with cardiac arrest who have a shockable rhythm.[66][75] The general use of sodium bicarbonate or calcium is not recommended.[66][88] The use of calcium in children has been associated with poor neurological function as well as decreased survival.[20] Correct dosing of medications in children is dependent on weight.[20] To minimize time spent calculating medication doses, the use of a Broselow tape is recommended.[20]
The 2010 guidelines from the American Heart Association no longer contain the recommendation for using atropine in pulseless electrical activity and asystole for want of evidence for its use.[89][39] Neither lidocaine nor amiodarone, in those who continue in ventricular tachycardia or ventricular fibrillation despite defibrillation, improves survival to hospital discharge but both equally improve survival to hospital admission.[90]
Thrombolytics when used generally may cause harm but may be of benefit in those with a confirmed pulmonary embolism as the cause of arrest.[91][74] Evidence for use of naloxone in those with cardiac arrest due to opioids is unclear but it may still be used.[74] In those with cardiac arrest due to local anesthetic, lipid emulsion may be used.[74]
### Targeted temperature management[edit]
Cooling adults after cardiac arrest who have a return of spontaneous circulation (ROSC) but no return of consciousness improves outcomes.[12][13] This procedure is called targeted temperature management (previously known as therapeutic hypothermia). People are typically cooled for a 24-hour period, with a target temperature of 32–36 °C (90–97 °F).[92] There are a number of methods used to lower the body temperature, such as applying ice packs or cold-water circulating pads directly to the body, or infusing cold saline. This is followed by gradual rewarming over the next 12 to 24 hrs.[93]
Recent meta-analysis found that the use of therapeutic hypothermia after out-of-hospital cardiac arrest is associated with improved survival rates and better neurological outcomes.[12]
### Do not resuscitate[edit]
Some people choose to avoid aggressive measures at the end of life. A do not resuscitate order (DNR) in the form of an advance health care directive makes it clear that in the event of cardiac arrest, the person does not wish to receive cardiopulmonary resuscitation.[94] Other directives may be made to stipulate the desire for intubation in the event of respiratory failure or, if comfort measures are all that are desired, by stipulating that healthcare providers should "allow natural death".[95]
### Chain of survival[edit]
Several organizations promote the idea of a chain of survival. The chain consists of the following "links":
* Early recognition If possible, recognition of illness before the person develops a cardiac arrest will allow the rescuer to prevent its occurrence. Early recognition that a cardiac arrest has occurred is key to survival for every minute a patient stays in cardiac arrest, their chances of survival drop by roughly 10%.[50]
* Early CPR improves the flow of blood and of oxygen to vital organs, an essential component of treating a cardiac arrest. In particular, by keeping the brain supplied with oxygenated blood, chances of neurological damage are decreased.
* Early defibrillation is effective for the management of ventricular fibrillation and pulseless ventricular tachycardia[50]
* Early advanced care
* Early post-resuscitation care which may include percutaneous coronary intervention[96]
If one or more links in the chain are missing or delayed, then the chances of survival drop significantly.
These protocols are often initiated by a code blue, which usually denotes impending or acute onset of cardiac arrest or respiratory failure, although in practice, code blue is often called in less life-threatening situations that require immediate attention from a physician.[citation needed]
### Other[edit]
Resuscitation with extracorporeal membrane oxygenation devices has been attempted with better results for in-hospital cardiac arrest (29% survival) than out-of-hospital cardiac arrest (4% survival) in populations selected to benefit most.[97] Cardiac catheterization in those who have survived an out-of-hospital cardiac arrest appears to improve outcomes although high quality evidence is lacking.[98] It is recommended that it is done as soon as possible in those who have had a cardiac arrest with ST elevation due to underlying heart problems.[66]
The precordial thump may be considered in those with witnessed, monitored, unstable ventricular tachycardia (including pulseless VT) if a defibrillator is not immediately ready for use, but it should not delay CPR and shock delivery or be used in those with unwitnessed out of hospital arrest.[99]
## Prognosis[edit]
The overall chance of survival among those who have cardiac arrest outside hospital is poor, at 10%.[100][101] Among those who have an out-of-hospital cardiac arrest, 70% occur at home and their survival rate is 6%.[102][103] For those who have an in-hospital cardiac arrest, the survival rate is estimated to be 24%.[104] Among children rates of survival are 3 to 16% in North America.[105] For in hospital cardiac arrest survival to discharge is around 22%.[106][39] However, some may have neurological injury that can range from mild memory problems to coma.[39]
Prognosis is typically assessed 72 hours or more after cardiac arrest.[107] Rates of survival are better in those who someone saw collapse, got bystander CPR, or had either ventricular tachycardia or ventricular fibrillation when assessed.[108] Survival among those with Vfib or Vtach is 15 to 23%.[108] Women are more likely to survive cardiac arrest and leave hospital than men.[109]
A 1997 review found rates of survival to discharge of 14% although different studies varied from 0 to 28%.[110] In those over the age of 70 who have a cardiac arrest while in hospital, survival to hospital discharge is less than 20%.[111] How well these individuals are able to manage after leaving hospital is not clear.[111]
A study of survival rates from out-of-hospital cardiac arrest found that 14.6% of those who had received resuscitation by paramedics survived as far as admission to hospital. Of these, 59% died during admission, half of these within the first 24 hours, while 46% survived until discharge from hospital. This reflects an overall survival following cardiac arrest of 6.8%. Of these 89% had normal brain function or mild neurological disability, 8.5% had moderate impairment, and 2% had major neurological disability. Of those who were discharged from hospital, 70% were still alive four years later.[112]
## Epidemiology[edit]
Based on death certificates, sudden cardiac death accounts for about 15% of all deaths in Western countries.[113] In the United States 326,000 cases of out of hospital and 209,000 cases of in hospital cardiac arrest occur among adults a year.[9][39] The lifetime risk is three times greater in men (12.3%) than women (4.2%) based on analysis of the Framingham Heart Study.[114] However this gender difference disappeared beyond 85 years of age.[113] Around half of these individuals are younger than 65 years of age.[39]
In the United States during pregnancy cardiac arrest occurs in about one in twelve thousand deliveries or 1.8 per 10,000 live births.[74] Rates are lower in Canada.[74]
## Society and culture[edit]
### Names[edit]
In many publications the stated or implicit meaning of "sudden cardiac death" is sudden death from cardiac causes.[115] However, sometimes physicians call cardiac arrest "sudden cardiac death" even if the person survives. Thus one can hear mentions of "prior episodes of sudden cardiac death" in a living person.[116]
In 2006 the American Heart Association presented the following definitions of sudden cardiac arrest and sudden cardiac death: "Cardiac arrest is the sudden cessation of cardiac activity so that the victim becomes unresponsive, with no normal breathing and no signs of circulation. If corrective measures are not taken rapidly, this condition progresses to sudden death. Cardiac arrest should be used to signify an event as described above, that is reversed, usually by CPR and/or defibrillation or cardioversion, or cardiac pacing. Sudden cardiac death should not be used to describe events that are not fatal".[117]
### Slow code[edit]
In some medical facilities, the resuscitation team may purposely respond slowly to a person in cardiac arrest, a practice known as "slow code", or may fake the response altogether for the sake of the person's family, a practice known as "show code".[118] This is generally done for people for whom performing CPR will have no medical benefit.[119] Such practices are ethically controversial,[120] and are banned in some jurisdictions.
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81. ^ McLeod SL, Brignardello-Petersen R, Worster A, You J, Iansavichene A, Guyatt G, Cheskes S (December 2017). "Comparative effectiveness of antiarrhythmics for out-of-hospital cardiac arrest: A systematic review and network meta-analysis". Resuscitation. 121: 90–97. doi:10.1016/j.resuscitation.2017.10.012. PMID 29037886.
82. ^ Ali MU, Fitzpatrick-Lewis D, Kenny M, Raina P, Atkins DL, Soar J, Nolan J, Ristagno G, Sherifali D (November 2018). "Effectiveness of antiarrhythmic drugs for shockable cardiac arrest: A systematic review" (PDF). Resuscitation. 132: 63–72. doi:10.1016/j.resuscitation.2018.08.025. PMID 30179691.
83. ^ Holmberg, Mathias J.; Issa, Mahmoud S.; Moskowitz, Ari; Morley, Peter; Welsford, Michelle; Neumar, Robert W.; Paiva, Edison F.; Coker, Amin; Hansen, Christopher K.; Andersen, Lars W.; Donnino, Michael W.; Berg, Katherine M.; Böttiger, Bernd W.; Callaway, Clifton W.; Deakin, Charles D.; Drennan, Ian R.; Nicholson, Tonia C.; Nolan, Jerry P.; O’Neil, Brian J.; Parr, Michael J.; Reynolds, Joshua C.; Sandroni, Claudio; Soar, Jasmeet; Wang, Tzong-Luen (June 2019). "Vasopressors during adult cardiac arrest: A systematic review and meta-analysis". Resuscitation. 139: 106–121. doi:10.1016/j.resuscitation.2019.04.008. PMID 30980877.
84. ^ Vargas, M; Buonanno, P; Iacovazzo, C; Servillo, G (4 November 2019). "Epinephrine for out of hospital cardiac arrest: A systematic review and meta-analysis of randomized controlled trials". Resuscitation. 145: 151–157. doi:10.1016/j.resuscitation.2019.10.026. PMID 31693924.
85. ^ Aves, T; Chopra, A; Patel, M; Lin, S (27 November 2019). "Epinephrine for Out-of-Hospital Cardiac Arrest: An Updated Systematic Review and Meta-Analysis". Critical Care Medicine. 48: 225–229. doi:10.1097/CCM.0000000000004130. PMID 31789700. S2CID 208537959.
86. ^ Belletti A, Benedetto U, Putzu A, Martino EA, Biondi-Zoccai G, Angelini GD, Zangrillo A, Landoni G (May 2018). "Vasopressors During Cardiopulmonary Resuscitation. A Network Meta-Analysis of Randomized Trials" (PDF). Critical Care Medicine. 46 (5): e443–e451. doi:10.1097/CCM.0000000000003049. PMID 29652719. S2CID 4851288.
87. ^ Attaran RR, Ewy GA (July 2010). "Epinephrine in resuscitation: curse or cure?". Future Cardiology. 6 (4): 473–82. doi:10.2217/fca.10.24. PMID 20608820.
88. ^ Velissaris D, Karamouzos V, Pierrakos C, Koniari I, Apostolopoulou C, Karanikolas M (April 2016). "Use of Sodium Bicarbonate in Cardiac Arrest: Current Guidelines and Literature Review". Journal of Clinical Medicine Research. 8 (4): 277–83. doi:10.14740/jocmr2456w. PMC 4780490. PMID 26985247.
89. ^ Neumar RW, Otto CW, Link MS, Kronick SL, Shuster M, Callaway CW, Kudenchuk PJ, Ornato JP, McNally B, Silvers SM, Passman RS, White RD, Hess EP, Tang W, Davis D, Sinz E, Morrison LJ (November 2010). "Part 8: adult advanced cardiovascular life support: 2010 American Heart Association Guidelines for Cardiopulmonary Resuscitation and Emergency Cardiovascular Care". Circulation. 122 (18 Suppl 3): S729-67. doi:10.1161/CIRCULATIONAHA.110.970988. PMID 20956224.
90. ^ Sanfilippo F, Corredor C, Santonocito C, Panarello G, Arcadipane A, Ristagno G, Pellis T (October 2016). "Amiodarone or lidocaine for cardiac arrest: A systematic review and meta-analysis". Resuscitation. 107: 31–7. doi:10.1016/j.resuscitation.2016.07.235. PMID 27496262.
91. ^ Perrott J, Henneberry RJ, Zed PJ (December 2010). "Thrombolytics for cardiac arrest: case report and systematic review of controlled trials". The Annals of Pharmacotherapy. 44 (12): 2007–13. doi:10.1345/aph.1P364. PMID 21119096. S2CID 11006778.
92. ^ Neumar RW, Shuster M, Callaway CW, Gent LM, Atkins DL, Bhanji F, Brooks SC, de Caen AR, Donnino MW, Ferrer JM, Kleinman ME, Kronick SL, Lavonas EJ, Link MS, Mancini ME, Morrison LJ, O'Connor RE, Samson RA, Schexnayder SM, Singletary EM, Sinz EH, Travers AH, Wyckoff MH, Hazinski MF (November 2015). "Part 1: Executive Summary: 2015 American Heart Association Guidelines Update for Cardiopulmonary Resuscitation and Emergency Cardiovascular Care". Circulation. 132 (18 Suppl 2): S315-67. doi:10.1161/cir.0000000000000252. PMID 26472989.
93. ^ Therapeutic hypothermia after cardiac arrest : clinical application and management. Lundbye, Justin B. London: Springer. 2012. ISBN 9781447129509. OCLC 802346256.CS1 maint: others (link)
94. ^ Loertscher L, Reed DA, Bannon MP, Mueller PS (January 2010). "Cardiopulmonary resuscitation and do-not-resuscitate orders: a guide for clinicians". The American Journal of Medicine. 123 (1): 4–9. doi:10.1016/j.amjmed.2009.05.029. PMID 20102982.
95. ^ Knox C, Vereb JA (December 2005). "Allow natural death: a more humane approach to discussing end-of-life directives". Journal of Emergency Nursing. 31 (6): 560–1. doi:10.1016/j.jen.2005.06.020. PMID 16308044.
96. ^ Millin MG, Comer AC, Nable JV, Johnston PV, Lawner BJ, Woltman N, Levy MJ, Seaman KG, Hirshon JM (November 2016). "Patients without ST elevation after return of spontaneous circulation may benefit from emergent percutaneous intervention: A systematic review and meta-analysis". Resuscitation. 108: 54–60. doi:10.1016/j.resuscitation.2016.09.004. PMID 27640933.
97. ^ Lehot JJ, Long-Him-Nam N, Bastien O (December 2011). "[Extracorporeal life support for treating cardiac arrest]". Bulletin de l'Académie Nationale de Médecine. 195 (9): 2025–33, discussion 2033–6. doi:10.1016/S0001-4079(19)31894-1. PMID 22930866.
98. ^ Camuglia AC, Randhawa VK, Lavi S, Walters DL (November 2014). "Cardiac catheterization is associated with superior outcomes for survivors of out of hospital cardiac arrest: review and meta-analysis". Resuscitation. 85 (11): 1533–40. doi:10.1016/j.resuscitation.2014.08.025. PMID 25195073.
99. ^ Cave DM, Gazmuri RJ, Otto CW, Nadkarni VM, Cheng A, Brooks SC, Daya M, Sutton RM, Branson R, Hazinski MF (November 2010). "Part 7: CPR techniques and devices: 2010 American Heart Association Guidelines for Cardiopulmonary Resuscitation and Emergency Cardiovascular Care". Circulation. 122 (18 Suppl 3): S720-8. doi:10.1161/CIRCULATIONAHA.110.970970. PMC 3741663. PMID 20956223.
100. ^ Benjamin EJ, Blaha MJ, Chiuve SE, Cushman M, Das SR, Deo R, de Ferranti SD, Floyd J, Fornage M, Gillespie C, Isasi CR, Jiménez MC, Jordan LC, Judd SE, Lackland D, Lichtman JH, Lisabeth L, Liu S, Longenecker CT, Mackey RH, Matsushita K, Mozaffarian D, Mussolino ME, Nasir K, Neumar RW, Palaniappan L, Pandey DK, Thiagarajan RR, Reeves MJ, Ritchey M, Rodriguez CJ, Roth GA, Rosamond WD, Sasson C, Towfighi A, Tsao CW, Turner MB, Virani SS, Voeks JH, Willey JZ, Wilkins JT, Wu JH, Alger HM, Wong SS, Muntner P (March 2017). "Heart Disease and Stroke Statistics-2017 Update: A Report From the American Heart Association". Circulation. 135 (10): e146–e603. doi:10.1161/CIR.0000000000000485. PMC 5408160. PMID 28122885.
101. ^ Kusumoto FM, Bailey KR, Chaouki AS, Deshmukh AJ, Gautam S, Kim RJ, Kramer DB, Lambrakos LK, Nasser NH, Sorajja D (September 2018). "Systematic Review for the 2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death". Circulation. 138 (13): e392–e414. doi:10.1161/CIR.0000000000000550. PMID 29084732.
102. ^ Medicine, Institute of (2015-06-30). Strategies to Improve Cardiac Arrest Survival: A Time to Act. doi:10.17226/21723. ISBN 9780309371995. PMID 26225413.
103. ^ Jollis JG, Granger CB (December 2016). "Improving Care of Out-of-Hospital Cardiac Arrest: Next Steps". Circulation. 134 (25): 2040–2042. doi:10.1161/CIRCULATIONAHA.116.025818. PMID 27994023.
104. ^ Daya MR, Schmicker R, May S, Morrison L (2015). "Current burden of cardiac arrest in the United States: report from the Resuscitation Outcomes Consortium. Paper commissioned by the Committee on the Treatment of Cardiac Arrest: Current Status and Future Directions" (PDF). Cite journal requires `|journal=` (help)
105. ^ de Caen AR, Berg MD, Chameides L, Gooden CK, Hickey RW, Scott HF, Sutton RM, Tijssen JA, Topjian A, van der Jagt ÉW, Schexnayder SM, Samson RA (November 2015). "Part 12: Pediatric Advanced Life Support: 2015 American Heart Association Guidelines Update for Cardiopulmonary Resuscitation and Emergency Cardiovascular Care". Circulation. 132 (18 Suppl 2): S526-42. doi:10.1161/cir.0000000000000266. PMC 6191296. PMID 26473000.
106. ^ Kronick SL, Kurz MC, Lin S, Edelson DP, Berg RA, Billi JE, Cabanas JG, Cone DC, Diercks DB, Foster JJ, Meeks RA, Travers AH, Welsford M (November 2015). "Part 4: Systems of Care and Continuous Quality Improvement: 2015 American Heart Association Guidelines Update for Cardiopulmonary Resuscitation and Emergency Cardiovascular Care". Circulation. 132 (18 Suppl 2): S397-413. doi:10.1161/cir.0000000000000258. PMID 26472992. S2CID 10073267.
107. ^ Neumar RW, Shuster M, Callaway CW, Gent LM, Atkins DL, Bhanji F, Brooks SC, de Caen AR, Donnino MW, Ferrer JM, Kleinman ME, Kronick SL, Lavonas EJ, Link MS, Mancini ME, Morrison LJ, O'Connor RE, Samson RA, Schexnayder SM, Singletary EM, Sinz EH, Travers AH, Wyckoff MH, Hazinski MF (November 2015). "Part 1: Executive Summary: 2015 American Heart Association Guidelines Update for Cardiopulmonary Resuscitation and Emergency Cardiovascular Care". Circulation. 132 (18 Suppl 2): S315-67. doi:10.1161/cir.0000000000000252. PMID 26472989.
108. ^ a b Sasson C, Rogers MA, Dahl J, Kellermann AL (January 2010). "Predictors of survival from out-of-hospital cardiac arrest: a systematic review and meta-analysis". Circulation: Cardiovascular Quality and Outcomes. 3 (1): 63–81. doi:10.1161/circoutcomes.109.889576. PMID 20123673.
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## External links[edit]
Classification
D
* ICD-10: I46
* ICD-9-CM: 427.5
* MeSH: D006323
* DiseasesDB: 2095
* SNOMED CT: 410429000
Cardiac arrestat Wikipedia's sister projects
* Definitions from Wiktionary
* Media from Wikimedia Commons
* News from Wikinews
* Quotations from Wikiquote
* Texts from Wikisource
* Textbooks from Wikibooks
* Resources from Wikiversity
* The Center for Resuscitation Science at the Hospital of the University of Pennsylvania
* v
* t
* e
Cardiovascular disease (heart)
Ischaemic
Coronary disease
* Coronary artery disease (CAD)
* Coronary artery aneurysm
* Spontaneous coronary artery dissection (SCAD)
* Coronary thrombosis
* Coronary vasospasm
* Myocardial bridge
Active ischemia
* Angina pectoris
* Prinzmetal's angina
* Stable angina
* Acute coronary syndrome
* Myocardial infarction
* Unstable angina
Sequelae
* hours
* Hibernating myocardium
* Myocardial stunning
* days
* Myocardial rupture
* weeks
* Aneurysm of heart / Ventricular aneurysm
* Dressler syndrome
Layers
Pericardium
* Pericarditis
* Acute
* Chronic / Constrictive
* Pericardial effusion
* Cardiac tamponade
* Hemopericardium
Myocardium
* Myocarditis
* Chagas disease
* Cardiomyopathy
* Dilated
* Alcoholic
* Hypertrophic
* Tachycardia-induced
* Restrictive
* Loeffler endocarditis
* Cardiac amyloidosis
* Endocardial fibroelastosis
* Arrhythmogenic right ventricular dysplasia
Endocardium /
valves
Endocarditis
* infective endocarditis
* Subacute bacterial endocarditis
* non-infective endocarditis
* Libman–Sacks endocarditis
* Nonbacterial thrombotic endocarditis
Valves
* mitral
* regurgitation
* prolapse
* stenosis
* aortic
* stenosis
* insufficiency
* tricuspid
* stenosis
* insufficiency
* pulmonary
* stenosis
* insufficiency
Conduction /
arrhythmia
Bradycardia
* Sinus bradycardia
* Sick sinus syndrome
* Heart block: Sinoatrial
* AV
* 1°
* 2°
* 3°
* Intraventricular
* Bundle branch block
* Right
* Left
* Left anterior fascicle
* Left posterior fascicle
* Bifascicular
* Trifascicular
* Adams–Stokes syndrome
Tachycardia
(paroxysmal and sinus)
Supraventricular
* Atrial
* Multifocal
* Junctional
* AV nodal reentrant
* Junctional ectopic
Ventricular
* Accelerated idioventricular rhythm
* Catecholaminergic polymorphic
* Torsades de pointes
Premature contraction
* Atrial
* Junctional
* Ventricular
Pre-excitation syndrome
* Lown–Ganong–Levine
* Wolff–Parkinson–White
Flutter / fibrillation
* Atrial flutter
* Ventricular flutter
* Atrial fibrillation
* Familial
* Ventricular fibrillation
Pacemaker
* Ectopic pacemaker / Ectopic beat
* Multifocal atrial tachycardia
* Pacemaker syndrome
* Parasystole
* Wandering atrial pacemaker
Long QT syndrome
* Andersen–Tawil
* Jervell and Lange-Nielsen
* Romano–Ward
Cardiac arrest
* Sudden cardiac death
* Asystole
* Pulseless electrical activity
* Sinoatrial arrest
Other / ungrouped
* hexaxial reference system
* Right axis deviation
* Left axis deviation
* QT
* Short QT syndrome
* T
* T wave alternans
* ST
* Osborn wave
* ST elevation
* ST depression
* Strain pattern
Cardiomegaly
* Ventricular hypertrophy
* Left
* Right / Cor pulmonale
* Atrial enlargement
* Left
* Right
* Athletic heart syndrome
Other
* Cardiac fibrosis
* Heart failure
* Diastolic heart failure
* Cardiac asthma
* Rheumatic fever
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Cardiac arrest | c0085298 | 29,635 | wikipedia | https://en.wikipedia.org/wiki/Cardiac_arrest | 2021-01-18T18:43:21 | {"mesh": ["D016757", "D006323"], "umls": ["C1861884", "C0264886", "C0085298"], "orphanet": ["871"], "wikidata": ["Q202837"]} |
## Description
Interstitial lung disease (ILD), or pneumonitis, is a heterogeneous group of disorders characterized pathologically by expansion of the interstitial compartment of the lung by inflammatory cells. Fibrosis occurs in many cases (Visscher and Myers, 2006).
Desquamative interstitial pneumonitis (DIP) was originally described as a pathologic entity by Liebow et al. (1965). Lung biopsy shows diffuse and uniform filling of alveoli by clusters of cells which Liebow et al. (1965) speculated to be 'desquamated pneumocytes.' Since then, these cells have been shown primarily to be pigmented alveolar macrophages. Other features include thickened alveolar septa with an infiltrate of inflammatory cells and plump, cuboidal type II pneumocytes. Mild collagen deposition without architectural distortion or honeycombing may be present. Different forms of ILD represent pathologic classifications based on histologic patterns rather than clinical diagnoses and may occur in a variety of clinical contexts (Visscher and Myers, 2006). See also usual interstitial pneumonitis (UIP; see 178500), which is associated with pulmonary fibrosis.
Although DIP occurs most often as a sporadic disorder in adults during the third to fifth decade of life and is highly associated with smoking (Carrington et al., 1978), reports of a familial form with onset in infancy and early death suggest a genetic basis (Sharief et al., 1994). Cases of DIP reported in infants are often more severe and refractory to treatment than those reported in adults (Nogee et al., 2001).
With the advent of molecular genetic analysis, some cases of familial early-onset respiratory insufficiency associated with a pathologic diagnosis of DIP have been shown to result from congenital dysfunction of surfactant metabolism (see, e.g., SMDP1, 265120) due to mutations in genes involved in surfactant metabolism (Nogee et al., 2001; Whitsett and Weaver, 2002).
Clinical Features
Tal et al. (1984) reported 3 infant sibs, 2 males and 1 female, who developed fatal respiratory failure within the first month of life. The parents were nonconsanguineous Jewish individuals of Moroccan origin. Clinical features included cough, difficulty breathing, cyanosis, failure to gain weight, and progressive hypoxia. All 3 children died before 4 months of age despite treatment with steroids and other immunosuppressive agents. Chest radiographs showed bilateral interstitial infiltrates with rapid progression to ground glass appearance. Lung biopsies showed lymphoplasmocytic infiltration in alveolar walls, fibrous thickening of alveolar walls, swelling of alveolar lining cells, and PAS-positive foamy cytoplasm in the alveolar spaces. The pathologic diagnosis was desquamative interstitial pneumonitis.
Buchino et al. (1987) described 2 families in which 2 sibs each had early infantile onset of severe respiratory distress with cyanosis and tachypnea resulting in death at ages 4 months to 3 years. Treatment with corticosteroids was not effective. Chest radiographs showed diffuse pulmonary infiltrates. Lung biopsies showed intraalveolar macrophages, prominent alveolar-lining cells, and mild interstitial fibrosis without necrosis or hyaline membrane formation consistent with DIP. All patients developed cor pulmonale. Buchino et al. (1987) suggested autosomal recessive inheritance and postulated an inborn error of metabolism.
Landing and Dixon (1979) and Landing (1987) observed a family in which 2 brothers and the brother of the mother were affected, suggesting autosomal dominant or X-linked inheritance.
Tsukahara et al. (1995) reported a brother and sister with DIP. The female died at age 1 year despite use of prednisolone and methylprednisolone, whereas the male, aged 3 years, was alive with oral azathioprine and oxygen support. The parents were unaffected, suggesting autosomal recessive inheritance.
Balasubramanyan et al. (1997) reported a male infant who presented at 8 days of age with respiratory distress and cyanosis. Lung biopsy at 8 weeks of age showed DIP. Family history revealed that 2 sibs had died in infancy and showed DIP on postmortem examination. After ineffective treatment with corticosteroids and cyclophosphamide, he was treated with chloroquine at age 14 months. He showed response within 3 weeks and was maintained successfully on this therapy for more than 9 years.
INHERITANCE \- Autosomal recessive GROWTH Weight \- Poor weight gain Other \- Failure to thrive CARDIOVASCULAR Heart \- Cor pulmonale RESPIRATORY \- Respiratory distress \- Cough \- Tachypnea Lung \- Radiograph shows bilateral diffuse interstitial infiltrates \- Radiograph shows ground glass appearance \- Hyperinflation \- Lung biopsy shows interstitial lymphoplasmocytic inflammation \- Thickened alveolar septa \- Plump, hyperchromatic alveolar-lining cells or type II pneumocytes \- Diffuse filling of alveoli with pigmented macrophages \- Variable interstitial fibrosis may be present \- Preservation of normal parenchymal architecture \- Absence of hyaline membranes \- Absence of necrosis SKIN, NAILS, & HAIR Skin \- Cyanosis LABORATORY ABNORMALITIES \- Hypoxia MISCELLANEOUS \- Onset in infancy (first hours to weeks of life) \- Death usually in infancy or early childhood \- DIP is a pathologic diagnosis that may represent other disease entities ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL | c0238378 | 29,636 | omim | https://www.omim.org/entry/263000 | 2019-09-22T16:23:18 | {"doid": ["0050158"], "mesh": ["C562470"], "omim": ["263000"], "icd-9": ["516.37", "516.34"], "icd-10": ["J84.117", "J84.115"], "orphanet": ["98852"], "synonyms": ["Alternative titles", "PNEUMONITIS, DESQUAMATIVE INTERSTITIAL, FAMILIAL", "PNEUMONIA, DESQUAMATIVE INTERSTITIAL, FAMILIAL", "INTERSTITIAL LUNG DISEASE, DESQUAMATIVE", "ILD, DESQUAMATIVE"]} |
A number sign (#) is used with this entry because of evidence that X-linked mental retardation-105 (MRX105) is caused by mutation in the USP27X gene (300975) on chromosome Xp11.
Clinical Features
Hu et al. (2016) reported 2 unrelated families (D177 and L75) in which a total of 7 males had borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems. No additional clinical details were provided.
Inheritance
The transmission pattern of MRX105 in the families reported by Hu et al. (2016) was consistent with X-linked recessive inheritance.
Molecular Genetics
In 3 affected males from a family (D177) with MRX105, Hu et al. (2016) identified a hemizygous truncating mutation in the USP27X gene (300975.0001). An unrelated male patient (family L75) with MRX105 was found to carry a hemizygous missense mutation in the USP27X gene (Y381H; 300975.0002); 3 others males in this family were affected, but genetic studies were not performed. Carrier females in both families were unaffected. The mutations were found by X-chromosome exome sequencing of 405 probands with X-linked intellectual disability. Functional studies of the variants were not performed.
INHERITANCE \- X-linked recessive NEUROLOGIC Central Nervous System \- Intellectual disability \- Poor or absent speech Behavioral Psychiatric Manifestations \- Behavioral problems MISCELLANEOUS \- Two unrelated families have been reported (last curated September 2016) MOLECULAR BASIS \- Caused by mutation in the X-linked ubiquitin-specific protease 27 gene (USP27X, 300975.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| MENTAL RETARDATION, X-LINKED 105 | c2931498 | 29,637 | omim | https://www.omim.org/entry/300984 | 2019-09-22T16:19:02 | {"mesh": ["C567906"], "omim": ["300984"], "orphanet": ["777"]} |
Transfusion-associated graft-versus-host-disease
Other namesTA-GvHD
SpecialtyHematology
Transfusion-associated graft-versus-host disease (TA-GvHD) is a rare complication of blood transfusion, in which the immunologically competent donor T lymphocytes mount an immune response against the recipient's lymphoid tissue.[1] These donor lymphocytes engraft, recognize recipient cells as foreign and mount an immune response against recipient tissues.[2] Donor lymphocytes are usually identified as foreign and destroyed by the recipient's immune system. However, in situations where the recipient is severely immunocompromised, or when the donor and recipient HLA type is similar (as can occur in directed donations from first-degree relatives), the recipient's immune system is not able to destroy the donor lymphocytes. This can result in transfusion associated graft-versus-host disease.
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 3 Prevention
* 4 Treatment
* 5 Epidemiology
* 6 References
* 7 External links
## Signs and symptoms[edit]
The clinical presentation is the same as GvHD occurring in other settings, such as bone marrow transplantation. TA-GvHD can develop 2 days to 6 weeks after the transfusion.[3] Typical symptoms include:[3]
* fever
* erythematous maculopapular rash, which can progress to generalised erythroderma
* toxic epidermal necrolysis in extreme cases
* hepatomegaly
* diarrhea
Other symptoms can include cough, abdominal pain, vomiting, and profuse diarrhea (up to 8 liters/day).
## Diagnosis[edit]
Laboratory findings include pancytopenia, marrow aplasia, abnormal liver enzymes, and electrolyte imbalance (when diarrhea is present).
TA-GvHD can be suspected from a biopsy of the affected skin or liver,[3] and established by HLA analysis of the circulating lymphocytes. This testing can identify circulating lymphocytes with a different HLA type than the tissue cells of the host.
## Prevention[edit]
Prevention includes gamma irradiation of the lymphocyte-containing blood components such as red blood cells, platelets and granulocytes. Irradiated blood components should be issued in the following situations:[4]
* Intrauterine transfusions
* Prematurity, low birthweight, or erythroblastosis fetalis in newborns
* Congenital immunodeficiencies
* Certain hematologic malignancies (e.g. Hodgkin lymphoma)
* Patients undergoing hematopoietic stem cell transplantation
* Components that are HLA matched, or directed donations from a family member
* Patients receiving fludarabine therapy
* Patients receiving granulocyte transfusions
## Treatment[edit]
Treatment is supportive. No available form of therapy has proven effective in treating TA-GvHD and it is fatal in more than 90% of cases.[2]
## Epidemiology[edit]
The incidence of TA-GvHD in immunocompromised patients receiving blood transfusions is estimated to be 0.1 - 1.0%, and mortality around 80 - 90%. Mortality is higher in TA-GvHD than in GvHD associated with bone marrow transplantation, where the engrafted lymphoid cells in the bone marrow are of donor origin and therefore the immune reaction is not directed against them.
The most common causes of death in TA-GvHD are infections and hemorrhages secondary to pancytopenia and liver dysfunction.
## References[edit]
1. ^ "Complications of Transfusion: Transfusion Medicine: Merck Manual Professional". Retrieved 2009-02-09.
2. ^ a b Savage, William J. (June 2016). "Transfusion Reactions". Hematology/Oncology Clinics of North America. 30 (3): 619–634. doi:10.1016/j.hoc.2016.01.012. ISSN 1558-1977. PMID 27113000.
3. ^ a b c "NHSN | CDC". www.cdc.gov. 2017-12-29. Retrieved 2018-09-18.
4. ^ Technical manual. Fung, Mark K., Grossman, Brenda J., Hillyer, Christopher D., Westhoff, Connie M., American Association of Blood Banks. (18th ed.). Bethesda, Md.: American Association of Blood Banks. 2014. ISBN 978-1563958885. OCLC 881812415.CS1 maint: others (link)
## External links[edit]
* Anwar M, Bhatti F (2003). "Transfusion associated graft versus host disease". J Ayub Med Coll Abbottabad. 15 (3): 56–8. PMID 14727344.
* Gupta, A; Bansal, D; Dass, R; Das, A (2004). "Transfusion Associated Graft versus Host Disease" (PDF). Indian Pediatr. 41 (12): 1260–1264. PMID 15623910.
* Darrell J. Triulzi: Transfusion associated graft vs. host disease and irradiated blood components
* Eric Kardon, eMedicine: Transfusion Reactions
Classification
D
* ICD-10: T80.8
* ICD-9-CM: 999.8
* v
* t
* e
Blood transfusion and transfusion medicine
Blood products
* Whole blood
* Platelets
* Platelet transfusion
* Red blood cells
* Plasma
* Fresh frozen plasma
* PF24
* Cryoprecipitate
* Cryosupernatant
* White blood cells
* Granulocyte transfusion
* Blood substitutes
General concepts
* Blood donation
* Methods
* Apheresis (plasmapheresis, plateletpheresis, leukapheresis)
* Exchange transfusion
* Intraoperative blood salvage
* Tests
* Blood typing
* Cross-matching
* Coombs test
* Blood bank
* International Society of Blood Transfusion
* ISBT 128
Transfusion reactions
and adverse effects
* Transfusion hemosiderosis
* Transfusion related acute lung injury
* Transfusion associated circulatory overload
* Transfusion-associated graft versus host disease
* Febrile non-hemolytic transfusion reaction
* Hemolytic reaction
* acute
* delayed
* Serum sickness
* Transfusion transmitted infection
Blood group systems
* Blood types
* ABO
* Secretor status
* Augustine
* CD59
* Chido-Rodgers
* Colton
* Cromer
* Diego
* Dombrock
* Duffy
* Er
* FORS
* Gerbich
* GIL
* GLOB
* Hh
* Ii
* Indian
* JR
* JMH
* KANNO
* Kell (Xk)
* Kidd
* Knops
* Lan
* Lewis
* Lutheran
* LW
* MNS
* OK
* P
* Raph
* Rh and RHAG
* Scianna
* Sid
* T-Tn
* Vel
* Xg
* Yt
* Other
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Transfusion-associated graft-versus-host disease | None | 29,638 | wikipedia | https://en.wikipedia.org/wiki/Transfusion-associated_graft-versus-host_disease | 2021-01-18T19:03:53 | {"icd-9": ["999.8"], "icd-10": ["T80.8"], "wikidata": ["Q3774208"]} |
Renal disease occurs in 40 to 75% of systemic lupus erythematosus (SLE; 152700) patients and significantly contributes to morbidity and mortality (Garcia et al., 1996). Quintero-Del-Rio et al. (2002) explored the impact of the American College of Rheumatology's renal criterion for SLE classification on genetic linkage with SLE. They evaluated genome scan data in 75 pedigrees that had at least 1 SLE patient affected according to the SLE renal criterion. A maximum-likelihood parametric model approach produced a maximum screening lod score of 2.58 at 11p15.6 in African American pedigrees. In 35 pedigrees with 2 or more SLE patients with renal disease, they found a lod score of 3.34 at 11p15.6 in African American pedigrees; however, as there is no band 11p15.6, the presumed location is 11p15.5. They designated this locus SLEN3. Sib-pair analysis in the pedigrees with 2 or more SLE patients revealed P = 0.00003 at 11p13 in African Americans.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 3 | c1842755 | 29,639 | omim | https://www.omim.org/entry/607967 | 2019-09-22T16:08:29 | {"omim": ["607967"]} |
A number sign (#) is used with this entry because T cell-negative (T-), B cell-negative (B-), natural killer cell-positive (NK+) severe combined immunodeficiency (SCID) can be caused by mutation in the recombinase activating genes RAG1 (179615) and RAG2 (179616).
Omenn syndrome (603554), an immunodeficient disorder with a less severe phenotype, is also caused by mutation in the RAG1 and RAG2 genes. See also T-, B-, NK+ SCID with sensitivity to ionizing radiation (602450) caused by mutation in the Artemis gene (DCLRE1C; 605988) and T-, B-, NK+ SCID with microcephaly, growth retardation, and sensitivity to ionizing radiation (611291) caused by mutation in the NHEJ1 gene (611290).
Description
Severe combined immunodeficiency refers to a genetically and clinically heterogeneous group of disorders with defective cellular and humoral immune function. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms, including Candida albicans, Pneumocystis carinii, and cytomegalovirus, among many others. Laboratory analysis shows profound lymphopenia with diminished or absent immunoglobulins. The common characteristic of all types of SCID is absence of T cell-mediated cellular immunity due to a defect in T-cell development. Without treatment, patients usually die within the first year of life. The overall prevalence of all types of SCID is approximately 1 in 75,000 births (Fischer et al., 1997; Buckley, 2004).
SCID can be divided into 2 main classes: those with B lymphocytes (B+ SCID) and those without (B- SCID). Presence or absence of NK cells is variable within these groups. The most common form of SCID is X-linked T-, B+, NK- SCID (300400) caused by mutation in the IL2RG gene (308380) on chromosome Xq13.1. Autosomal recessive SCID includes T-, B+, NK- SCID (600802) caused by mutation in the JAK3 gene (600173) on 19p13.1; T-, B+, NK+ SCID (608971) caused by mutation in the IL7R gene (146661) on 5p13, the CD45 gene (151460) on 1q31-q32, or the CD3D gene (186790) on 11q23; T-, B-, NK- SCID (102700) caused by mutation in the ADA (608958) gene on 20q13.11; T-, B-, NK+ SCID with sensitivity to ionizing radiation caused by mutation in the Artemis gene on 10p; and T-, B-, NK+ SCID caused by mutation in the RAG1 and RAG2 genes on 11p13 (Kalman et al., 2004).
Approximately 20 to 30% of all SCID patients are T-, B-, NK+, and approximately half of these patients have mutations in the RAG1 or RAG2 genes (Schwarz et al., 1996; Fischer et al., 1997).
Clinical Features
### Early Descriptions of Autosomal Recessive SCID
Glanzmann and Riniker (1950) reported 2 pairs of sibs who had severe infections, candidiasis, agammaglobulinemia, and lymphopenia. Hitzig and Willi (1961), Hitzig (1968), and Hitzig et al. (1968) reported a form of congenital immunodeficiency with agammaglobulinemia and absence or decreased numbers of lymphocytes. At that time, the disorder was termed 'Swiss-type agammaglobulinemia' to distinguish it from the less severe Bruton agammaglobulinemia (300755) in which T lymphocytes are unaffected. Nezelof (1992) noted that 'Swiss-type agammaglobulinemia' is a historic term referring to severe combined immunodeficiency as a disorder with both agammaglobulinemia and T-cell lymphopenia, and does not represent a single disease entity.
Tobler and Cottier (1958) reported families with agammaglobulinemia and lymphopenia showing autosomal recessive inheritance. Affected patients had a small thymus with depletion of lymphoid cells, suggesting a failure or arrest in embryologic development of the gland. The findings were consistent with 'thymic dysplasia' (Nezelof, 1992). Good (1964) referred to the recessive form of agammaglobulinemia as the Swiss type. In contrast to X-linked Bruton agammaglobulinemia, patients were unusually susceptible to fungal and viral as well as pyogenic pathogens, lacked delayed hypersensitivity, and showed failure of antibody production. Furthermore, the thymus, which was usually normal in Bruton agammaglobulinemia, was very small with absence of lymphoid cells and Hassall corpuscles.
Haworth et al. (1967) reported that 'thymic alymphoplasia,' now known as thymic dysplasia (Nezelof, 1992), was frequent among Mennonites living in southern Manitoba. Lipsey et al. (1967) reported 3 families in which multiple sibs had congenital hypogammaglobulinemia that defied classification. The 3 probands died of pneumonia in the first 3 years of life.
### Descriptions of T-, B-, NK+ SCID
Stephan et al. (1993) reported 36 patients with T-, B- SCID among 117 patients with SCID. The average age at first hospitalization was 93 days, and at diagnosis, 141 days. All patients showed growth impairment by 3 months of age. The most common presentations were persistent diarrhea, candidiasis, lung infections, fever, and opportunistic infections. The most common organisms were Candida albicans, Pseudomonas, gram-negative species, Pneumocystis, Streptococcus, and Staphylococcus. Profound lymphopenia (less than 1,000 cells/microliter) occurred in 16 of the 36 patients. The disorder was fatal in infancy in all patients who did not undergo hematopoietic stem cell transplantation.
Corneo et al. (2001) reported 3 unrelated patients with T-, B- SCID. One of the patients had a sib with Omenn syndrome (de Saint-Basile et al., 1991), and another patient was from a consanguineous family.
Clinical Management
Dror et al. (1993) reported the results of lectin-treated T-cell-depleted haplocompatible parental bone marrow transplantation in patients with SCID. Nineteen of 21 patients had T-cell engraftment by 10 to 12 months posttransplant. B-cell function became normal in 10 of 14 patients 2 to 8 years posttransplant. Fourteen of 24 (58%) patients were alive 7 months to 9.8 years posttransplant.
Stiehm et al. (1996) reported successful bone marrow transplantation in the treatment of autosomal recessive SCID in a 1-month-old girl. The donor was the patient's HLA-mismatched 6-year-old sister, who had previously received a marrow transplant from her father that was mismatched in regard to 1 HLA haplotype to treat the same condition. The graft in the younger girl was not depleted of T cells, and no conditioning regimen was used before transplantation. The prompt engraftment in the infant and her uneventful course after transplantation indicated that the paternal T cells in the older sister's marrow had acquired immunologic tolerance of relevant HLA antigens and thus reconstituted the younger child's immune system without causing graft-versus-host disease (GVHD; see 614395).
Pathogenesis
Cooper et al. (1965, 1965) suggested that both the thymus system responsible for cellular immunity and the tonsillar system responsible for immunoglobulin production were absent in SCID ('Swiss type'), whereas only the latter was affected in Bruton type agammaglobulinemia.
Pyke et al. (1975) found that in vitro incubation of peripheral blood lymphocytes and bone marrow cells from SCID patients on monolayer cultures of normal human thymic epithelium resulted in the SCID lymphocytes forming rosettes with sheep erythrocytes. The same cell preparation yielded synthesis of antigen-specific, complement-dependent antibodies. The findings suggested that the defect in SCID involved a failure of lymphoid precursor cells to differentiate because of a thymic defect rather than a deficiency of these cells.
Schwarz et al. (1991) provided evidence for an abnormal recombination pattern of D-J heavy chain elements in pre-B cells from T-, B- SCID patients, suggesting that human SCID resembles murine scid (see 600899).
Patients with T-, B-, NK+ SCID have mutations in the lymphocyte-specific RAG1 and RAG2 genes, which mediate the initial step of somatic recombination of genes encoding variable (V), diversity (D), and joining (J) segments to generate variable types of immunoglobulins and T-cell receptors required for proper immune function. The lymphocyte-specific RAG genes cleave double-stranded DNA between specific recombination signal sequences and coding joints, producing blunt signal ends and covalently sealed or 'hairpinned' coding ends. Failure of the recombination machinery leads to arrest of both T- and B-cell development, resulting in SCID (Corneo et al., 2001).
Using real-time PCR and immunohistochemistry, Cavadini et al. (2005) analyzed autoimmune regulator (AIRE; 607358) expression in the thymi of 2 Omenn syndrome patients and 1 T-, B-, NK+ SCID patient and found profound reduction of AIRE mRNA and protein compared to a normal control subject. There was no detectable mRNA for the self-antigens insulin (176730), cytochrome P450 1A2 (124060), or fatty acid-binding protein (see 134650) in the immunodeficient patients. Cavadini et al. (2005) concluded that deficiency of AIRE expression occurs in severe immunodeficiencies characterized by abnormal T-cell development and suggested that in Omenn syndrome, the few residual T-cell clones that develop may escape negative selection and thereafter expand in the periphery, causing massive autoimmune reactions.
Molecular Genetics
In 6 of 14 T-, B-, NK+ SCID patients, Schwarz et al. (1996) identified homozygous or compound heterozygous mutations in the RAG1 (179615.0001-179615.0004) and RAG2 (179616.0001; 179616.0002) genes. Several of the SCID patients had unaffected sibs who were heterozygous with 1 wildtype allele for RAG1 or RAG2, suggesting that 1 wildtype allele is sufficient for normal lymphocyte development. The authors concluded that structural mutations of the RAG genes account for a substantial proportion of human SCID cases. In a patient with T-, B- SCID, Corneo et al. (2001) identified compound heterozygosity for 2 mutations in the RAG2 gene (179616.0002; 179616.0008). A sib with Omenn syndrome had the same genotype. In 2 additional unrelated patients with T-, B- SCID, Corneo et al. (2001) identified mutations in the RAG1 gene (179615.0010; 179615.0015). Both mutations were also identified in patients with Omenn syndrome. The authors concluded that there was an additional factor required for the phenotypic expression of Omenn syndrome.
In 4 of 6 patients with T-, B- SCID, Tabori et al. (2004) identified mutations in the RAG2 gene (see, e.g., 179616.0007).
In 3 children with T-, B-, NK+ SCID from 2 related families of Athabascan-speaking Dine Indians from the Canadian Northwest Territories, Xiao et al. (2009) identified homozygosity for a missense mutation in the RAG1 gene (179615.0023). As expected, there was no increased sensitivity to ionizing radiation in patient fibroblasts. Xiao et al. (2009) stated that this is the third gene known to cause SCID in Athabascan-speaking Native Americans, in addition to the gene encoding Artemis (DCLRE1C; 605988), which causes SCIDA (602450), and the IL2RG gene (308380), which causes an X-linked form of SCID (300400).
Animal Model
The scid mouse, which shows a similar phenotype to T-, B- SCID, is caused by mutation in the Prkdc gene (600899), which is involved in V(D)J recombination (Bosma et al., 1983; Kirchgessner et al., 1995).
INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive secondary to recurrent infections HEAD & NECK Head \- Mastoiditis Ears \- Otitis media Eyes \- Conjunctivitis Nose \- Purulent rhinitis RESPIRATORY Lung \- Recurrent acute pneumonia ABDOMEN Gastrointestinal \- Diarrhea SKELETAL Limbs \- Arthritis NEUROLOGIC Central Nervous System \- Meningitis IMMUNOLOGY \- Frequent opportunistic infections \- Inability to reject allogenic cells \- Absent peripheral blood B cells \- Absent peripheral blood T cells \- Loss of or marked reduction of V(D)J recombination activity LABORATORY ABNORMALITIES \- Panhypogammaglobulinemia MISCELLANEOUS \- Presents at 2 to 3 months of age \- Death within several months if untreated MOLECULAR BASIS \- Caused by mutations in the recombinase activating gene 1 (RAG1, {179615.0001)} \- Caused by mutations in the recombinase activating gene 2 (RAG2, 179616.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE | c1832322 | 29,640 | omim | https://www.omim.org/entry/601457 | 2019-09-22T16:14:43 | {"doid": ["0090013"], "mesh": ["C563311"], "omim": ["601457"], "orphanet": ["331206"], "synonyms": ["Alternative titles", "SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE"]} |
Unicameral bone cyst
Other namesSolitary bone cyst
A unicameral bone cyst, also known as a simple bone cyst, is a cavity filled with a yellow-colored fluid.[1] It is considered to be benign since it does not spread beyond the bone.[2] Unicameral bone cysts can be classified into two categories: active and latent.[2] An active cyst is adjacent to the epiphyseal plate and tends to grow until it fills the entire diaphysis, the shaft, of the bone; depending on the invasiveness of the cyst, it can cause a pathological fracture or even destroy the epiphyseal plate leading to the permanent shortening of the bone.[2] A latent cyst is located away from the epiphyseal plate and is more likely to heal with treatment.[2] It is typically diagnosed in children from the aged 5 to 15.[2] Although unicameral bone cysts can form in any bone structure, it is predominantly found in the proximal humerus and proximal femur; additionally, it affects males twice as often as females.[1]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 3.1 X-rays
* 3.2 Computerized tomography (CT) Scan
* 3.3 Magnetic Resonance Imaging (MRI)
* 3.4 Bone scans
* 4 Treatment
* 5 References
* 6 External links
## Signs and symptoms[edit]
Most unicameral bone cysts do not cause any symptoms and are discovered as accidental findings on radiographs or CT scans made for other reasons. Large lesions can cause nearby areas of bone to thin, which may result in a fracture and cause pain.[3]
## Cause[edit]
There is not a specific theory behind the etiology of the unicameral bone cyst, however, according to many researchers and doctors, there is a commonly known theory hypothesized by Jonathan Cohen in 1970.[1] Cohen studied interstitial fluid in six children undergoing treatment for unicameral bone cysts.[1] He believed that the chemical composition of the fluid found in the bone cyst was similar to the chemical make-up in serum.[3] Cohen theorized that the unicameral bone cyst occurs when interstitial fluids in cancellous bones quickly accumulate in one region from blockage.[3]
One of the other theories is that the cysts result from a disorder of the growth plate. Another is that the cysts result from problems with circulation that are caused by a developmental anomaly in the veins of the affected bone. The role trauma plays in the development of these cysts is unknown. Some speculate that repeated trauma puts the bone at risk for developing a bone cyst. This, however, has not been proven.[1]
## Diagnosis[edit]
### X-rays[edit]
Unicameral bone cysts are found incidentally on X-rays. About 90 to 95% of the lesion is found in metaphysics of long bones. The cyst is centered, oblong in shape along the long axis of a long bone. Rarely, they are large and multicameral and are found in diaphysis. When fracture is present, there may be a small bone fragment migrated in the cystic fluid. This is called "fallen fragment sign" which is diagnostic of unicameral bone cyst. Besides, a bubble migrating upwards (known as "rising bubble sign") is another feature suggesting of unicameral bone cyst.[4]
### Computerized tomography (CT) Scan[edit]
CT scan shows a thin-walled lesion with pseudo septum (incomplete septum or a septum with perforations that allows communications between two chambers). CT scan is used to assess cyst wall thickness and risk of fracture.[4]
### Magnetic Resonance Imaging (MRI)[edit]
Magnetic resonance imaging scans are used to identify the precise location of the cyst, to see how aggressive the disease is, and to determine the actual shape and size.[2] The MRI uses a combination of magnets and radio-frequencies to produce various detailed, computerized images of the cyst and its surrounding body structures.[2]
### Bone scans[edit]
a nuclear imaging method to evaluate any degenerative and/or arthritic changes in the joints; to detect bone diseases and tumors; to determine the cause of bone pain or inflammation. This test is to rule out other cysts (which are quite unusual)[1]
## Treatment[edit]
If there is a high probability of a fracture resulting from the unicameral bone cyst, then surgical treatment is necessary.[2] Specific methods can be determined by the physician based upon the patient’s age, medical history, tolerance for certain medical procedures or medicine, health, and extremity of the disease.[2] The treatment can involve or incorporate one or more of the following surgical methods, which are performed by a pediatric orthopedic surgeon:[2]
* Curettage:
Surgeons create an incision or opening in the bone to drain out the fluids inside the cyst.[2] After the fluid is drained, a curette is used to scrape the lining tissue out of the lesion.[2]
* Bone Grafting:
Bone grafting is proceeded with after curettage; the empty cavity is transplanted with donor bone tissue, bone chips taken from another bone, or artificial material.[2]
* Steroid injection:
An injection of methylprednisolone acetate into the lesion helps reduce the levels of prostaglandin.[2] Prostaglandin is a fatty acid that reduces cyst’s ability to be reabsorbed into the bone.[2] To begin an operation using steroids, biopsy needles are placed into the cyst and the interstitial fluids are drained.[2] The cyst is then filled with radiographic contrast to determine the volume and shape of the cyst.[2] If the cyst can be filled, it will be injected with methylprednisolone acetate in several intervals for a time span of six to twelve months.[2] Once the level of prostaglandin decreases, the cyst will be reabsorbed into the bone and disappear.[2] Treatments using steroid injections are preferred over curettage, but there are few risks from the method, which are limited to infection, fracture, and reappearance of the cyst.[2]
If a patient needs to be treated with surgery, a standard surgical procedure would be called for; the patient would be resting in Fowler’s position, a semi-sitting position, under general anesthesia.[5] The exact size, shape, and distance between the acromion to the midpoint of the cyst are measured by a digital radiograph or MRI scan.[5] A small, longitudinal skin incision, about 1 cm long, is made at the center of the cyst.[5] Next, by using a trephine or drill bit, a small aperture is made inside the incision.[5] Fluids contained in the cyst are drained and curved, metal impactors are used to break any septa, or membranes, within the cyst.[5] Curettes are then used to remove the entire cyst from the diaphysis.[5] After the removal of the cystic membrane, a 95% ethanol solution is injected into the cavity to produce a chemical cauterization to burn away any residual active membrane for 30 seconds and then aspirated.[5] Saline solution is then immediately injected into the cavity to wash out any residual ethanol solution and to mitigate any damage to healthy tissue; this irrigation process of ethanol and saline solutions is repeated for another 2 to 3 times.[5] A curved impactor is inserted into the cavity and used to penetrate the boundary between the cyst and bone marrow; the intentional penetrations will allow bone marrow cells to migrate into the cavity to produce a source of osteoinductive cells, cells that induce bony growth.[5] Furthermore, the cavity is completely filled with bone graft substitute, such as calcium sulfate.[5] Finally, one cannulated screw is placed into the aperture.[5]
## References[edit]
1. ^ a b c d e f Mehlman, Charles T. "Unicameral Bone Cyst". Medscape Reference. Retrieved 17 March 2012.
2. ^ a b c d e f g h i j k l m n o p q r s t "Simple Bone Cyst (unicameral)". Children's Hospital Boston. Retrieved 22 March 2012.
3. ^ a b c Cohen, Jonathan (1970). "Etiology of Simple Bone Cyst". The Journal of Bone and Joint Surgery. 52 (7): 1493–97. Retrieved 23 March 2012.
4. ^ a b Mascard, E.; Gomez-Brouchet, A.; Lambot, K. (February 2015). "Bone cysts: Unicameral and aneurysmal bone cyst". Orthopaedics & Traumatology: Surgery & Research. 101 (1): S119–S127. doi:10.1016/j.otsr.2014.06.031.
5. ^ a b c d e f g h i j k Hou, Hsien-Yang; Karl Wu; Chen-Ti Wang; Shun-Min Chang; Wei-Hsin Lei; Rong-Sen Yang (2011). "Treatment of Unicameral Bone Cyst: Surgical Technique". The Journal of Bone and Joint Surgery. American Volume. 93: 92–99. doi:10.2106/JBJS.J.01123.
## External links[edit]
Classification
D
* ICD-10: M85.4
External resources
* eMedicine: article/1257331
* Orphanet: 83468
* v
* t
* e
Bone and joint disease
Bone
Inflammation
endocrine:
* Osteitis fibrosa cystica
* Brown tumor
infection:
* Osteomyelitis
* Sequestrum
* Involucrum
* Sesamoiditis
* Brodie abscess
* Periostitis
* Vertebral osteomyelitis
Metabolic
* Bone density
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* Paget's disease of bone
* Hypophosphatasia
Bone resorption
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spine
* * Scheuermann's_disease
arm:
* wrist
* Kienböck's disease
* elbow
* Panner disease
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Unicameral bone cyst | c0005937 | 29,641 | wikipedia | https://en.wikipedia.org/wiki/Unicameral_bone_cyst | 2021-01-18T18:59:00 | {"mesh": ["D001845"], "umls": ["C0005937", "C4082185"], "orphanet": ["83468"], "wikidata": ["Q7884708"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive primary microcephaly-15 (MCPH15) is caused by homozygous mutation in the MFSD2A gene (614397) on chromosome 1p34.
For a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).
Clinical Features
Guemez-Gamboa et al. (2015) reported 4 children from 2 unrelated consanguineous families of Libyan and Egyptian origin, respectively, with a lethal microcephalic disorder. The patients had progressive microcephaly (up to -6.2 SD), profoundly delayed psychomotor development with lack of head control, lack of ambulation, and lack of speech development. Additional neurologic features included spastic quadriparesis, hyperreflexia, hypotonia, and early-onset seizures. Brain imaging showed enlarged ventricles and hypoplasia of the corpus callosum, brainstem, and cerebellum. All the patients died before age 6 years. Laboratory studies showed that the patients had increased plasma lysophosphatidylcholine (LPC) levels compared to their parents and to controls.
### Clinical Variability
Alakbarzade et al. (2015) reported a large consanguineous Pakistani kindred in which 10 individuals had microcephaly (greater than -3 SD), severe intellectual disability with absent speech, and spastic quadriparesis. Brain imaging of 2 patients showed a paucity of cerebral white matter, particularly posteriorly around the lateral ventricles. Myelination appeared complete, and cortical thickening and folding appeared normal.
Inheritance
The transmission pattern of MCPH15 in the families reported by Guemez-Gamboa et al. (2015) and Alakbarzade et al. (2015) was consistent with autosomal recessive inheritance.
Mapping
By linkage analysis of a large consanguineous Pakistani kindred with MCPH15, Alakbarzade et al. (2015) found significant linkage to a 19.9-Mb region on chromosome 1p34 (maximum lod score of 7.3).
Molecular Genetics
In affected members of 2 consanguineous families from northern Africa with MCPH15, Guemez-Gamboa et al. (2015) identified 2 different homozygous missense mutations in the MFSD2A gene (T159M, 614397.0001 and S166L, 614397.0002). The mutations, which were found by exome sequencing, segregated with the disorder in the families. In vitro functional expression assays showed that the mutations resulted in complete loss of transport activity.
In affected members of a large consanguineous Pakistani kindred with MCPH15, Alakbarzade et al. (2015) identified a homozygous missense mutation in the MFSD2A gene (S339L; 614397.0003). The mutation, which was found by a combination of linkage analysis and whole-exome sequencing, segregated with the disorder in the family. In vitro functional expression assays showed that the mutation resulted in a partial loss of transport function, which may have mitigated the phenotype compared to that observed in the patients reported by Guemez-Gamboa et al. (2015). Transport of LPC-docosahexaenoic acid (DHA) and LPC-oleate was significantly reduced, and transport of LPC-palmitate was almost abolished. Plasma levels of total LPC in homozygous carriers were increased by about 54% compared to controls, consistent with defective transport and uptake of LPC at the blood-brain barrier. The results showed that high-affinity MFSD2A ligands with unsaturated acyl chains were more significantly affected than low-affinity ligands with saturated fatty acyl chains. These findings suggested that mono- and polyunsaturated fatty acyl chains are the major plasma LPC species required for human brain growth.
Animal Model
Nguyen et al. (2014) found that Mfsd2a-deficient mice had markedly reduced levels of DHA in brain accompanied by neuronal cell loss in hippocampus and cerebellum, as well as cognitive deficits, severe anxiety, and microcephaly. Mfsd2a-deficient mice also had markedly reduced uptake of labeled LPC-DHA and other LPCs from plasma into brain, demonstrating that MFSD2A is required for brain uptake of DHA.
Guemez-Gamboa et al. (2015) found that morpholino knockdown of the orthologous mfsd2aa gene in zebrafish resulted in early postnatal lethality and microcephaly. Morphant zebrafish also showed disruption of the blood-brain barrier, manifest as extravasation of labeled dextrose, and this defect could be rescued by expression of wildtype mfsd2aa. Guemez-Gamboa et al. (2015) also found that Mfsd2a-null mice had an approximately 40% increase in plasma levels of LPC compared to controls, consistent with impaired uptake of LPC into the brain via Mfsd2a.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Microcephaly, progressive (up to -6.2 SD) Eyes \- Upslanting palpebral fissures (family C) SKELETAL Feet \- Talipes equinovarus (families A and B) MUSCLE, SOFT TISSUES \- Hypotonia (families A and B) NEUROLOGIC Central Nervous System \- Delayed psychomotor development, severe \- Intellectual disability, severe \- Absent speech \- Non-ambulatory (families A and B) \- No head support (families A and B) \- Spastic quadriparesis \- Spastic gait (family C) \- Hyperreflexia \- Seizures (families A and B) \- Dilated ventricles \- Paucity of cerebral white matter volume (family C) \- Thin corpus callosum (families A and B) \- Cerebellar hypoplasia (families A and B) \- Brainstem hypoplasia (families A and B) Behavioral Psychiatric Manifestations \- Autistic features (families A and B) LABORATORY ABNORMALITIES \- Increased plasma lysophosphatidylcholines (LPCs) containing mono- and polyunsaturated fatty acyl chains MISCELLANEOUS \- Onset at birth \- Progressive disorder \- Three unrelated consanguineous families (Libyan, Egyptian, and Pakistani origin) have been reported (last curated July 2015) \- Families A and B had a more severe phenotype resulting in death in early childhood \- Family C had a milder phenotype with survival into adulthood MOLECULAR BASIS \- Caused by mutation in the major facilitator superfamily domain-containing protein 2A gene (MFSD2A, 614397.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE | c3711387 | 29,642 | omim | https://www.omim.org/entry/616486 | 2019-09-22T15:48:43 | {"doid": ["0070277"], "mesh": ["C579935"], "omim": ["616486"], "orphanet": ["2512"]} |
## Description
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.
Clinical Features
Rafiq et al. (2005) reported ectodermal dysplasia of the hair/nail type in 13 members (8 males; 5 females) over 6 generations of an inbred Pakistani family. Clinical features included micronychia, resulting in highly dystrophic fingernails, anonychia of toenails, thin scalp and body hair, and fine eyebrows and eyelashes.
Inheritance
The transmission pattern of ectodermal dysplasia in the family reported by Rafiq et al. (2005) was consistent with autosomal recessive inheritance.
Mapping
In 13 members of an inbred Pakistani family with an autosomal recessive form of ectodermal dysplasia, Rafiq et al. (2005) performed genomewide linkage analysis of 390 microsatellite markers and mapped the ectodermal dysplasia locus to a 3.92-cM interval flanked by markers D10S1710 and D10S1741 on chromosome 10q24.32-q25.1. Multipoint linkage analysis generated a maximum score of 4.79 in a 6.35-Mb interval between D10S1239-D10S1264.
INHERITANCE \- Autosomal recessive SKIN, NAILS, & HAIR Nails \- Micronychia \- Dystrophic fingernails \- Absent toenails (anonychia) Hair \- Thin scalp hair \- Fine eyebrows \- Fine eyelashes \- Thin body hair MISCELLANEOUS \- One Pakistani reported (last curated November 2012) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| ECTODERMAL DYSPLASIA 5, HAIR/NAIL TYPE | c1865951 | 29,643 | omim | https://www.omim.org/entry/614927 | 2019-09-22T15:53:41 | {"mesh": ["C566592"], "omim": ["614927"], "orphanet": ["69084"]} |
Bladder incontinence fetishism
Omorashi (おもらし / オモラシ / お漏らし), sometimes abbreviated as simply "omo", is a form of fetish subculture originating and predominately recognized in Japan, in which participants experience arousal from having a full bladder or wetting themselves, or from seeing someone else experiencing a full bladder or wetting themselves. Outside Japan, it is not usually distinguished from urolagnia, though they are different things: the Handbook of Clinical Sexuality for Mental Health Professionals specifically defines omorashi as persistent sexual arousal toward a full bladder.[1] Dr. J. Paul Fedoroff acknowledges this distinction, observing that "The theme of taking control of autonomic process is prominent in the paraphilia known as omorashi, which involves sexual arousal associated with the sensation of needing to urinate due to a full bladder."[2] Westerners who make the distinction sometimes use the term "bladder desperation" to do so, though some fetishist communities in the West adopt the more specific Japanese language terminology. The Japanese term "omorashi" means to wet oneself. The word is also occasionally romanized as "omorasi" in the Kunrei-shiki romanization system. In the English speaking BDSM community, the term bathroom use control is used to describe omorashi play in which the dominant controls how and when the submissive is allowed to use the bathroom.[3]
## Contents
* 1 Attitudes toward sexuality in omorashi media
* 2 Japanese subculture
* 2.1 Yagai
* 2.2 Diapers
* 2.3 Skirt omorashi
* 2.4 Fetish films
* 2.5 Periodicals
* 2.6 Anime and manga
* 2.7 Eroge
* 2.8 Collectibles
* 3 Outside Japan
* 3.1 Western publications and media
* 3.1.1 Print
* 3.1.2 Film
* 3.2 Fashion
* 4 See also
* 5 References
## Attitudes toward sexuality in omorashi media[edit]
Most fetish activities concerning the use of bodily waste are considered by the general public as "hardcore", taboo, or edgeplay.[4] However, because the object of the fetish is clothed incontinence, omorashi videos do not necessarily feature direct sexual contact, though some use it as a form of foreplay. The focus on clothed (rather than overtly sexual images) makes garment fetishism a prominent feature in most omorashi erotica: commonly featured outfits include school uniforms, those worn by working professionals, and other people attempting to look dignified before succumbing to the need to urinate.
Fetishists who are into this kink may have specific scenarios they enjoy, such as while waiting in line for a bathroom or just doing it for fun in front of the toilet. Regardless of their personal wetting preferences, everyone who is into this kink enjoys watching someone wet themselves or have an accident in clothing.[5]
## Japanese subculture[edit]
There are many ways in which omorashi fetishism is practiced in Japan.
### Yagai[edit]
One of the variations is known as omorashi yagai, which translates as "to wet oneself outdoors (or publicly)." A further variation includes yagai hōnyō, or "outdoor (or public) urination", in which the subject publicly removes their clothes to urinate. Other yagai hōnyō practitioners operate much like graffiti artists, attempting public urination acts without being caught.[6]
### Diapers[edit]
Another variation of omorashi play is omutsu omorashi (おむつおもらし) or omutsu play (おむつプレイ), less commonly called oshime omorashi (おしめおもらし), both of which translate as "to wet oneself in a diaper." This omutsu variation is essentially the same as the standard omorashi, except that the participants are wearing a diaper. Diapers may be favorable for public wetting because they render it more discreet and eliminate mess, and their use is not limited specifically to those with a diaper fetish. However, omorashi fetishists specifically interested in this aspect of the subculture could be considered a Japanese variation of the diaper lover community.
Japanese acceptance of adult diaper use is comparatively high, with the market for such products growing as much as 6–10% a year.[7] However, these are largely intended for and worn by the elderly, with the growth due to Japan's aging population, and younger people wearing these have met with some criticism. In 2012, the Japanese magazine SPA ran an article entitled "The Ultimate Form of Slob", which criticized the trend of young Japanese women who wear diapers to avoid public restrooms. The article included an interview with a 25-year-old woman who had been wearing diapers "instead of going to the toilet" for a period of six months, "wearing [them] almost every day."[8]
### Skirt omorashi[edit]
See also: Underwear fetishism
Some individuals find it attractive when someone wets themself in a skirt, since it allows for upskirt views of the accident. This is referred to as sukāto omorashi (スカートおもらし). This can combine with uniform fetishism, and pornography with skirted performers dressed as high school girls and office workers is common, as well as depictions of skirted people in casual dress.
### Fetish films[edit]
Main article: Pink film
In order to avoid Japan's strict censorship laws, which limited depictions of actual sex and pubic hair, erotic films (known as pink films) often relied on fetish elements which could skirt such restrictions. One such film, Terrifying Girls' High School: Lynch Law Classroom in 1973, would be the first to depict an omorashi scenario to a cinematic audience.
As the AV (adult video) genre took hold in the 1980s, videos specifically devoted to omorashi began to appear. Several notable AV idols have starred in such scenes, including Sakura Sakurada. However, perhaps because of its softcore nature, omorashi never became a clearly pornographic genre.
Today, Japanese omorashi fans also enjoy game show-style videos in which contestants must compete in various urine-holding challenges.[9] The Giga[10] video company's "Desperation Tournament" series is an example of this kind of contest. One such activity is a panel of contestants competing to hold their bladders, or to guess which woman has to use the restroom the most.
### Periodicals[edit]
Since the 1990s, magazine companies catering to the Japanese kink community have produced a number of periodicals dedicated to omorashi subculture, including most notably Sanwa Publishing's Omorashi Club (rendered phonetically as the wasei-eigo おもらし倶楽部, or Omorashi Kurabu). First published September 22, 1994, Omorashi Club's success allowed Sanwa to extend the brand in 2006 to include a DVD magazine. The following year, the demand for material catering specifically to omutsu omorashi fandom led to further expansion with the spin-off periodical Diapers Club (おむつ倶楽部, or Omutsu Kurabu). The scarcity of earlier issues of these magazines has caused them to become collector's items.
### Anime and manga[edit]
Japanese-produced omorashi media also include comic books and cartoons. These range from independently produced dōjinshi to large, commercially produced manga. Some focus exclusively on omorashi stories, while others include only the occasional scene. Some contain obvious sexual themes and could be considered a form of H manga, while others, like Iinari! Aibure-shon, are well known to be suitable for all ages, since they have only mild ecchi content such as panchira.[11]
Wetting scenes have existed in anime as early as the popular Doraemon and Devilman series of the 1970s. However, these did not have the erotic context which characterizes modern omorashi media, since they predated the first full-blown anime pornography, which was not available until 1984, when the advent of the first H anime OVAs such as Wonder Kids' Lolita Anime were made possible by the widespread availability of home video. One example of this later erotic context is the 1994 H anime OVA Vixens, which features scenes of incontinence in a setting that is overtly sexual.
### Eroge[edit]
An eroge (erotic game) is a Japanese video or computer game that features erotic content, usually in the form of anime-style artwork. The crossover of omorashi and anime fandom has produced a number of games such as Water Closet: The Forbidden Chamber which are specifically focused on omorashi. The limited popularity of omorashi in the West has prompted a number of programmers in the scene to create software patches for these Japanese games which translate the on screen text into English.[12]
Some eroge game designers have capitalized on the omorashi fandom's niche market by including the occasional wetting scene in their games as a selling point. MAID iN HEAVEN SuperS,[13] for example, which contains only a single, diapered wetting scene, was used to spin-off an entire set of collectible figures in various omorashi poses.[14] These PVC model figures were created by toy manufacturer Giga Pulse, which is not related to the video company of similar name.
### Collectibles[edit]
A promotional image of collectible Shizukuishi kyuun kyuun toilet paper, with images from the omorashi comic Iinari! Aibure-shon.
With the translation of omorashi into manga and its subsequent adoption by otaku fandom, a number of omorashi themed collectibles have appeared on the Japanese market, including figurines[15][16] and "Shizukuishi kyuun kyuun toilet paper"[17] printed with wetting scenes featuring the character Shizukuishi from the omorashi manga, Iinari! Aibure-shon.[11]
## Outside Japan[edit]
Though there is a small community devoted to such fetishism outside Japan, it is usually overshadowed by the more hardcore fetishes, urolagnia and urophagia. Vice Media has documented an account of an omorashi community existing in the United States since at least 1970.[18] Outside Japan omorashi groups sometimes refer to their shared interest as "desperation/wetting" fetishism, often making a distinction between content featuring males and females. In 2018, People magazine[19] and the New York Post[20] reported the use of the English language portmanteau word "peegasm" among people who practiced "releasing urine after a long period of time" in order to achieve "a stimulation of pelvic nerves" that "could feel like an orgasmic response.” Some English language fetish websites with a focus on females simply identify as "panty wetting." Since such sites abandon the "desperation" title which implies an effort not to wet, they are more likely to include nudity, overtly sexual models and situations, as well as purposeful (as opposed to accidental) wetting. There are still communities which focus on the more tame or softcore aspects of omorashi, which are generally focused on simple wetting in fully or semi-clothed situations without the overtly sexual models and situations. However, this softcore side is more rare in English-speaking communities than the more explicitly sexual omorashi content.
Though there is generally no wide acceptance of incontinence-based play, studies in England have shown that urinary incontinence during sexual activity is a "common, but rarely volunteered symptom" observed in 24% of sexually active women. Moreover, no connection could be identified with any specific abnormality of bladder function associated with these symptoms, indicating that such leakage is both normal and healthy.[21][22]
### Western publications and media[edit]
Because of the western stigma in numerous countries against urine, omorashi subculture has not received such diverse exposure in non-Japanese media. In some countries, governments have even banned such materials. In New Zealand for example, creating, trading, distributing (e.g., making available on one's web page) anything promoting or supporting "the use of urine or excrement in association with degrading or dehumanising conduct or sexual conduct" is a felony punishable by up to ten years in jail.[23][24] Nonetheless, urination is a common fetish in pornography; the 1915 film A Free Ride, widely considered the first pornographic film made in the US, contains scenes of urination.
#### Print[edit]
An early example of urination and skirt-wetting appearing in a sexualized context in the west can be found in the 1928 erotic novel Story of the Eye.
Underground periodicals dedicated to pants wetting subculture outside of Japan began to appear in the 1991 with the British underground magazine Cascade, which collected erotic letters related to the fetish that occasionally appeared in older publications such as Feista and combined them with original stories, drawings, and photography.[25] This was followed in 1993 by the Australia-based Wet Set Magazine.[26] Wet Set publications were originally only available in English, but readership in German speaking countries proved high enough to justify printing some materials in German. Such publications facilitated the burgeoning subculture by providing opportunities for contact between its members via personal ads. The importance of these printed materials declined with the advent of the internet, and both Cascade and Wet Set ceased publication of physical magazines in the 21st century as the subculture shifted increasingly toward message boards and social media.
Though Wet Set did not generally acknowledge the comparatively large Asian fan base over any other country, it exposed its readers to the Japanese kink community through articles reporting on that subculture's activities.[27] During the 21st century, some Western writers on the subject of omorashi began to recognize the Asian influence upon the subculture in a more direct way. For instance, in a February 2006 issue of The Brooklyn Rail, American poet Garrett Caples of Oakland, California chose to describe the shooting of an omorashi film in a Japanese setting.[28] Aside from lending Western omorashi media an "authentic" quality, the inclusion of Japanese models and settings might also be seen as an attempt to play upon the stereotype of ultrapassivity globally associated[29] with Asian women, further enhancing their perceived moe qualities and catering to Asian fetishists.
#### Film[edit]
The 2002 award-winning film Secretary depicted a scene of bathroom use control resulting in the submissive wetting her dress.
### Fashion[edit]
Despite omorashi subculture's intrinsic relationship to garment fetishism, taboos in the west against relating sexuality and urine prevented mainstream acceptance of overtly sexual garments related to incontinence until the 21st century, when New Zealand-based underwear brand Confitex debuted a line of incontinence lingerie at New Zealand Fashion Week 2015\. The organizers stated in a press release that "This is the first time, anywhere worldwide, that incontinence underwear has graced a catwalk as a designer range."[30] In Cosmopolitan Magazine's coverage of the event, they proclaimed that "You Can Feel Sexy Even if You Leak,"[31] despite the ban existing in that country against promoting or supporting incontinence-based play. The Sweden-based brand TENA subsequently followed the precedent set by Confitex with their Silhoutte Noir line of disposable incontinence undergarments, which were designed to "dismantle taboos around incontinence." Anna McCrory, senior brand manager for TENA UK, explained the goal of the product as "helping women to feel sexy, confident and able to wear what they like without being restricted by the colour or shape of their underwear, an important step towards normalising incontinence.”[32] According to the Canadian Trademarks Database, the word "Omutsu" began to be used in Canada for a line of designer adult diapers in 2017, catering specifically to the omutsu omorashi community in that country.[33]
In 2019, Greek fashion designer and performance artist Dimitra Petsa released a collection entitled Wetness showcasing pants "dyed in such a way that it seems someone peed in them." According to Petsa, the idea for her design came from a piece of performance art in which she deliberately wet herself on a crowded subway in Athens. In a subsequent interview, she explained that though she initially experienced shame at peeing her pants publicly, "Afterwards I felt very free and powerful, but at the same time I felt very naked." She went on to state that models who were asked to wet their pants during the presentation of the collection experienced it as "an emotional process" and an "eye opening experience." She described this as "the ultimate metaphor for letting go -- both of my bodily fluids and of my shame" and explained that "shaming is an effective way of keeping women under control. I think that’s one of the main reasons why shame is such a central theme in my work."[34]
Similar sentiments regarding fashion as a tool for overcoming stigmas against adults wetting themselves were previously expressed by the organizers of a 2008 Japanese fashion show for adult diapers aimed at Japan's increasingly elderly population, in which an organizer stated that "Diapers are something that people don't want to look at, but if you make them attractive, then people can learn about them more easily."[35]
## See also[edit]
* Diaper fetishism
* Garment fetishism
* Panty fetishism
* Salirophilia
* Urolagnia
## References[edit]
1. ^ Fedoroff, J. Paul (2016). "Managing versus successfully treating paraphilic disorders". Handbook of Clinical Sexuality for Mental Health Professionals. Abingdon-on-Thames: Routledge. p. 353. ISBN 1317507460.
2. ^ Fedoroff, J. Paul (2019). "Other Specified Paraphilic Disorders". The Paraphilias: Changing Suits in the Evolution of Sexual Interest Paradigms. Oxford: Oxford University Press. p. 242. ISBN 0190466332.
3. ^ "Glossary - Bathroom Use Control". theblackpomegranate.com. Retrieved July 7, 2020.
4. ^ "Taboo: Bodily Fluids". Matthewhunt.com. Archived from the original on December 10, 2007. Retrieved July 3, 2014.
5. ^ "Exploring the World of Pee Fetishism". Kinkly.com. Retrieved November 3, 2019.
6. ^ "Hentai dictionary: Japanese perversions, fetishes and AV slang". Hellodamage.com. Archived from the original on April 27, 2010.
7. ^ "Adult Diapers To Outsell Baby Diapers in Japan By 2020: Report". HuffPost. July 11, 2013.
8. ^ "ズボラの最終形か？ オムツ女子の生態". nikkan-spa.jp. Archived from the original on October 20, 2012. Retrieved January 6, 2015.
9. ^ "The R Videos". Kokoro-soft.com. Retrieved September 5, 2013.
10. ^ "無題ドキュメント" [Untitled Document]. Giga-freeks.net. Archived from the original on January 24, 2010. Retrieved July 3, 2014.
11. ^ a b "Iinari! Aibure-shon toilet paper". Canned Dogs. Archived from the original on October 31, 2007. Retrieved July 4, 2014.
12. ^ "Google page". Retrieved September 16, 2014.
13. ^ "Information about: MAID iN HEAVEN SuperS / めいどいんへぶんすーぱーす". Doujinshi.mugimugi.org. November 3, 2013. Retrieved July 4, 2014.
14. ^ "Maid in Heaven Supers: Beach Vol. 2 Set of 4 – Maid in Heaven Supers Action Figures". Tisinc99.com. July 15, 2003. Retrieved December 22, 2013.
15. ^ Leon (August 7, 2010). "Queen's Gate Urinating Alice Figure". Sankaku Complex. Retrieved December 22, 2013.
16. ^ Shingo (August 24, 2008). "Iinari! Aibure-shon gets the figure treatment". Heiseidemocracy.com. Retrieved September 5, 2013.
17. ^ "いいなり!あいぶれーしょん " いいなり!あいぶれーしょん " 雫石きゅんきゅんトイレットペーパ− | キャラクターグッズ＆アパレル販売のコスパ" [Cospa of character goods and apparel sales – Compliant caress Configuration – Shizukuishi tighter and tighter toilet paper]. Cospa.com. Retrieved September 5, 2013.
18. ^ "The Women and Men Who Get Turned on by Needing to Pee". Retrieved October 3, 2018.
19. ^ "Is It Really Possible to Have a 'Peegasm' from Holding Your Urine? An OB-GYN Weighs In". Retrieved September 15, 2019.
20. ^ "Doctors warn of dangers in new 'peegasm' trend". Retrieved September 15, 2019.
21. ^ Khan, Z.; Bhola, A.; Starer, P. (1988). "Urinary incontinence during orgasm". Urology. 31 (3): 279–282. doi:10.1016/0090-4295(88)90160-4. PMID 3347980.
22. ^ Hilton, P. (1988). "Urinary incontinence during sexual intercourse: a common, but rarely volunteered, symptom". British Journal of Obstetrics and Gynaecology. 95 (4): 377–381. doi:10.1111/j.1471-0528.1988.tb06609.x. PMID 3382610.
23. ^ "Text of the law". Retrieved September 16, 2014.
24. ^ "Description of ten-year penalty". Censorship.dia.govt.nz. Retrieved September 5, 2013.
25. ^ "Retro Cascade". Cascademag.com. Retrieved September 21, 2020.
26. ^ "Wet Set Magazine". Retrieved September 16, 2014.
27. ^ Mark, Victoria. "It's a Wet, Wet World - Wet Fun in Japan". Wet Set. Turramurra, New South Wales. Retrieved September 21, 2020.
28. ^ Caples, Garrett. "The Omorashi Girls". Thebrooklynrail.org. Archived from the original on January 10, 2009. Retrieved July 3, 2014.
29. ^ Eng, Phoebe (2000). "She Takes Back Desire". Warrior Lessons: An Asian American Woman's Journey into Power. New York: Atria. pp. 115–142. ISBN 0-671-00957-5.
30. ^ "World's first incontinence lingerie collection hits the runway". Retrieved July 7, 2020.
31. ^ Jung, Helin. "Incontinence Lingerie Is a Thing — You Know, so You Can Feel Sexy Even if You Leak". Retrieved April 22, 2020.
32. ^ Watson, Imogen. "Tena subverts Victoria Secret catwalk ad to break taboos around incontinence". Retrieved July 9, 2020.
33. ^ "Canadian Trademarks Details: Omutsu — 1922466". Retrieved November 9, 2020.
34. ^ El Haddaoui, Chaima. "the fashion designer inspired by female body fluids". Retrieved January 26, 2020.
35. ^ "Japan holds diaper fashion show - for adults". Retrieved January 26, 2020.
Works cited
* Weisser, Thomas; Weisser, Yuko Mihara (1998). Japanese Cinema Encyclopedia: The Sex Films. Miami: Vital Books: Asian Cult Cinema Publications. ISBN 1-889288-52-7.
* Fedoroff, J. Paul (2016). "Managing versus successfully treating paraphilic disorders". Handbook of Clinical Sexuality for Mental Health Professionals. Abingdon-on-Thames: Routledge. ISBN 1317507460.
* Fedoroff, J. Paul (2019). "Other Specified Paraphilic Disorders". The Paraphilias: Changing Suits in the Evolution of Sexual Interest Paradigms. Oxford: Oxford University Press. ISBN 0190466332.
* Eng, Phoebe (2000). "She Takes Back Desire". Warrior Lessons: An Asian American Woman's Journey into Power. New York: Atria. ISBN 0-671-00957-5.
* v
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Paraphilias
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Related articles
* List of Japanese erotic computer games
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Japanese subcultures
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Cultural phenomena
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Omorashi | None | 29,644 | wikipedia | https://en.wikipedia.org/wiki/Omorashi | 2021-01-18T18:48:01 | {"wikidata": ["Q3046513"]} |
Pseudophobia
SpecialtyPsychology
A pseudophobia is a purported irrational aversion or fear whose existence is as yet unproven.[1]
Examples of pseudophobia include schoolphobia and separation anxiety.[2] The term has also been applied to first time fathers and mothers who have an exorbitant fear of hurting their own infant child due to an exaggerated perception of their fragility.[3] John Bowlby has described the agoraphobic condition as a pseudophobia.[4] These features may in actuality encompass a reaction to a lack of a secure refuge[5] or other underlying pathological processes.[6] Its origin typically derives from some dreaded memory.[7]
## References[edit]
1. ^ Vianna, Daniel M., Craig Allen, and Pascal Carrive. "Pharmacological dissociation of autonomic and behavioural responses to fear in the medullary raphe." Autonomic Neuroscience 135.1 (2007): 131-132.
2. ^ Kazdin, Alan E., and Cyd C. Strauss. "Separation anxiety and school phobia: A comparison using DSM-III criteria." Am J Psychiatry 1.44 (1987): 653.
3. ^ Sved-Williams, Anne E. "Phobic reactions of mothers to their own babies." Australian and New Zealand journal of psychiatry 26.4 (1992): 631-638.
4. ^ Moorephd, Mary Sue. "Disturbed attachment in children: A factor in sleep disturbance, altered dream production and immune dysfunction: 1." Journal of Child Psychotherapy 15.1 (1989): 99-111.
5. ^ Goldberg, Arnold (1980). Advances in self psychology. p. 180.
6. ^ Rattner, Bambi (1997). Anxiety-based school absenteeism. p. 22.
7. ^ Caruth, Cathy (1995). Trauma: Explorations in Memory. p. 81.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Pseudophobia | None | 29,645 | wikipedia | https://en.wikipedia.org/wiki/Pseudophobia | 2021-01-18T18:47:12 | {"wikidata": ["Q28017529"]} |
Neutrophilic dermatosis of the dorsal hands
Other namesPustular vasculitis of the dorsal hands
SpecialtyDermatology
Neutrophilic dermatosis of the dorsal hands is a skin condition that presents with edematous pustular or ulcerative nodules or plaques localized to the dorsal hands.[1]:146[2]
## 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. ^ Dicaudo, David J.; Connolly, Suzanne M. (2002). "Neutrophilic Dermatosis (Pustular Vasculitis) of the Dorsal Hands". Archives of Dermatology. 138 (3). doi:10.1001/archderm.138.3.361.
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Neutrophilic dermatosis of the dorsal hands | None | 29,646 | wikipedia | https://en.wikipedia.org/wiki/Neutrophilic_dermatosis_of_the_dorsal_hands | 2021-01-18T18:28:14 | {"wikidata": ["Q7003147"]} |
See also: Caffeine-induced anxiety disorder, caffeine-induced sleep disorder, and caffeine dependence
Caffeinism
Other namesCaffeine overdose
SpecialtyToxicology, psychiatry
Caffeinism is a state of intoxication due to excessive consumption of caffeine. This intoxication covers a variety of unpleasant physical and mental symptoms associated with the consumption of excessive amounts of caffeine.[1]
Caffeine is considered as one of the most widely consumed drugs around the world. Around 80% of the world population consumes caffeine in one form or another.[2] It's extracted from coffee and tea, and is found in some of the most popular beverages in the world, cocoa, chocolate, and soft drinks, especially "cola" drinks, and is an important component of "energy drinks" and other dietary supplements.[1]
Caffeine is also an ingredient of several medications, many of them over-the-counter and prescription drugs. The consensus is to consider caffeine a drug with pharmacological effects acting throughout the body.
## Contents
* 1 Signs and symptoms
* 2 Treatment
* 3 Epidemiology
* 4 See also
* 5 References
* 6 External links
## Signs and symptoms[edit]
Primary symptoms of caffeine intoxication[3]
In moderate doses, caffeine is used to reduce physical fatigue, to prevent drowsiness and sleep, and to maintain and restore mental alertness and wakefulness. However, at higher doses, these stimulatory effects can become excessive and lead to a wide range of unpleasant symptoms including a dysphoric physical and mental state that is labeled caffeinism and is also known colloquially as "coffee nerves" or "caffeine jitters." These symptoms including nervousness, irritability, restlessness, insomnia, headaches, and palpitations after caffeine use.[4]
Caffeinism usually occurs when consumption of caffeine reaches 1–1.5 grams (0.035–0.053 oz) per day.[5] For reference, a brewed 8oz cup of coffee contains ~95 mg of caffeine (per USDA).[6]
According to the Diagnostic and Statistical Manual of Mental Disorders, caffeine overdose can result in a state of excessive stimulation of the central nervous system and the essential feature of Caffeine Intoxication is the recent consumption of caffeine. This diagnosis requires the presence of at least five signs or symptoms, from a list of 12, that develop during or shortly after caffeine use.[7] This syndrome regularly happens when a person ingested large amounts of caffeine from any source (e.g., more than 400–500 mg at a time).
The signs and symptoms are divided into one group that can appear after an intake of as little as 100 mg of caffeine (roughly the amount contained in a cup of brewed coffee) and another group of symptoms that appear at higher levels of intake (more than 1 g per day). Low-dose symptoms include
1. restlessness,
2. nervousness,
3. excitement,
4. insomnia,
5. flushed face,
6. diuresis (increased urination), and
7. gastrointestinal disturbance.
Symptoms associated with high doses of caffeine include
1. muscle twitching,
2. rambling flow of thought and speech,
3. tachycardia and cardiac arrhythmia,
4. periods of inexhaustibility, and
5. psychomotor agitation,[1]
6. anorexia (loss of appetite).
The symptoms of caffeine intoxication are comparable to the symptoms of overdoses of other stimulants.[3] In cases of much larger overdoses, mania, depression, lapses in judgment, disorientation, disinhibition, delusions, weight loss, loss of appetite, hallucinations, or psychosis may occur.[8][9]
Death can occur when a person had a caffeine overdose.[10][11] The LD50 of caffeine in humans is dependent on individual sensitivity, but is estimated to be 150–200 milligrams per kilogram of body mass (75–100 cups of coffee for a 70 kilogram adult).[12] A number of fatalities have been caused by overdoses of readily available powdered caffeine supplements, for which the estimated lethal amount is less than a tablespoon.[13] The lethal dose is lower in individuals whose ability to metabolize caffeine is impaired due to genetics or chronic liver disease[14] A death was reported in a man with liver cirrhosis who overdosed on caffeinated mints.[15][16][17] Caffeinism can also result in severe injury. In one case, energy drink caffeinism, led to a severe brain hemorrhage and massive loss of brain matter.[18]
## Treatment[edit]
Treatment of mild caffeine intoxication is directed toward symptom relief; severe intoxication may require peritoneal dialysis, hemodialysis, or hemofiltration.[3] Control of caffeine intake requires awareness of the caffeine content of caffeinated beverages, over-the-counter drugs, and other sources of caffeine in the diet. Such information is not easy to obtain. The content of brewed beverages such as coffee and tea varies greatly based on the method of preparation.[19]
There is no standard value for "a cup of coffee." The caffeine content of cola drinks and most energy drinks can be difficult to determine, because in many cases the labels do not indicate the dose per serving. Caffeine doses in these beverages range from 20 to 30 mg in some soft drinks, up to 350 mg or more in some energy drinks. Although some Internet web sites report caffeine content for beverages, official lists are not available and the number of brands continually grows.[1]
Attempting to abruptly discontinue all consumption of caffeine-containing products from the diet is not usually recommended. The person could suffer from severe symptoms of caffeine withdrawal including headaches, fatigue, and difficulty concentrating. It is recommended that the person reduces caffeine consumption gradually to avoid withdrawal as attempts to suddenly discontinue all caffeine consumption are frequently abandoned due to the severity of the withdrawal symptoms.[1][19]
## Epidemiology[edit]
Little is known about the prevalence of caffeinism in the general population. Although most people are familiar with the disorder, it probably remains underdiagnosed, because patients are rarely questioned about the use of caffeine.[2]
## See also[edit]
* Caffeine-induced anxiety disorder
## References[edit]
1. ^ a b c d e Stolerman, Ian P. (2010). Encyclopedia of Psychopharmacology (Online-Ausg. ed.). Berlin, Heidelberg: Springer-Verlag Berlin Heidelberg. pp. 261–264. ISBN 978-3-540-68706-1.
2. ^ a b Iancu, I; Strous, RD (February 2006). "Caffeine intoxication: history, clinical features, diagnosis and treatment". Harefuah. 145 (2): 147–51, 163–4. PMID 16509422.
3. ^ a b c "Caffeine (Systemic)". MedlinePlus. 25 May 2000. Archived from the original on 23 February 2007. Retrieved 3 August 2009.
4. ^ Iancu I, Olmer A, Strous RD (2007). "Caffeinism: History, clinical features, diagnosis, and treatment". In Smith BD, Gupta U, Gupta BS (eds.). Caffeine and Activation Theory: Effects on Health and Behavior. CRC Press. pp. 331–344. ISBN 978-0-8493-7102-8. Retrieved 15 January 2014.
5. ^ Winston AP, Hardwick E, Jaberi N (2005). "Neuropsychiatric effects of caffeine". Advances in Psychiatric Treatment. 11 (6): 432–439. doi:10.1192/apt.11.6.432.
6. ^ "FoodData Central". ndb.nal.usda.gov. Retrieved 2020-10-02.
7. ^ American Psychiatric Association (1994). Diagnostic and Statistical Manual of Mental Disorders (4th ed.). American Psychiatric Association. ISBN 978-0-89042-062-1.
8. ^ "Caffeine overdose". MedlinePlus. 4 April 2006. Retrieved 3 August 2009.
9. ^ Verkhratsky A (January 2005). "Physiology and pathophysiology of the calcium store in the endoplasmic reticulum of neurons". Physiological Reviews. 85 (1): 201–79. doi:10.1152/physrev.00004.2004. PMID 15618481. S2CID 11820734.
10. ^ Holmgren P, Nordén-Pettersson L, Ahlner J (January 2004). "Caffeine fatalities – four case reports". Forensic Science International. 139 (1): 71–3. doi:10.1016/j.forsciint.2003.09.019. PMID 14687776.
11. ^ "FDA Consumer Advice on Powdered Pure Caffeine". FDA. Retrieved 20 August 2014.
12. ^ Peters JM (1967). "Factors Affecting Caffeine Toxicity: A Review of the Literature". The Journal of Clinical Pharmacology and the Journal of New Drugs. 7 (3): 131–141. doi:10.1002/j.1552-4604.1967.tb00034.x. Archived from the original on 12 January 2012.
13. ^ Murray Carpenter. "Caffeine powder poses deadly risks". New York Times. Retrieved 18 May 2015.
14. ^ Rodopoulos N, Wisén O, Norman A (May 1995). "Caffeine metabolism in patients with chronic liver disease". Scandinavian Journal of Clinical and Laboratory Investigation. 55 (3): 229–42. doi:10.3109/00365519509089618. PMID 7638557.
15. ^ Cheston P, Smith L (11 October 2013). "Man died after overdosing on caffeine mints". The Independent. Retrieved 13 October 2013.
16. ^ Prynne M (11 October 2013). "Warning over caffeine sweets after father dies from overdose". The Telegraph. Retrieved 13 October 2013.
17. ^ Fricker M (12 October 2013). "John Jackson: Family of dad who died from caffeine overdose after eating MINTS want them removed from sale". Daily Mirror. Retrieved 13 October 2013.
18. ^ https://www.boredpanda.com/energy-drinks-caution-story-parents-brianna-austin/?utm_source=google&utm_medium=organic&utm_campaign=organic
19. ^ a b Haenel, H. (1992). "J. E. James: Caffeine and Health. 432 Seiten. Academic Press, London, San Diego, New York u. a. Preis: 29,50 £; 59,95 $". Food/Nahrung. 36 (4): 431. doi:10.1002/food.19920360453.
## External links[edit]
Classification
D
* ICD-10: F15.9
* v
* t
* e
Psychoactive substance-related disorder
General
* SID
* Substance intoxication / Drug overdose
* Substance-induced psychosis
* Withdrawal:
* Craving
* Neonatal withdrawal
* Post-acute-withdrawal syndrome (PAWS)
* SUD
* Substance abuse / Substance-related disorders
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Combined
substance use
* SUD
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Alcohol
SID
Cardiovascular diseases
* Alcoholic cardiomyopathy
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Gastrointestinal diseases
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* Alcoholic hepatitis
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Opioids
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solvent
* SID
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* Toluene toxicity
* SUD
* Inhalant abuse
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Caffeinism | c0274693 | 29,647 | wikipedia | https://en.wikipedia.org/wiki/Caffeinism | 2021-01-18T19:02:58 | {"umls": ["C0274693"], "wikidata": ["Q51302742"]} |
Mainzer-Saldino syndrome is a disorder characterized by kidney disease, eye problems, and skeletal abnormalities.
People with Mainzer-Saldino syndrome have chronic kidney disease that begins in childhood and gets worse over time. The rate at which the kidney disease worsens is variable, but the condition eventually leads to kidney failure in most affected individuals.
Degeneration of the light-sensitive tissue at the back of the eye (the retina) almost always occurs in this disorder, but the age at which this feature develops varies. Some affected individuals are blind or have severe vision impairment beginning in infancy, with the pattern of vision loss resembling a condition called Leber congenital amaurosis. In other people with Mainzer-Saldino syndrome, the retinal degeneration begins in childhood, but some vision is retained into early adulthood. The vision loss in these affected individuals resembles a category of retinal disorders called rod-cone dystrophies. The most common rod-cone dystrophy is called retinitis pigmentosa, and the vision problems in Mainzer-Saldino syndrome are sometimes referred to as such. However, the abnormal deposits of pigment in the retina from which retinitis pigmentosa gets its name are often not found in Mainzer-Saldino syndrome. As a result, some researchers use terms such as "atypical retinitis pigmentosa without pigment" to describe the retinal degeneration that occurs in Mainzer-Saldino syndrome.
The skeletal abnormality most characteristic of Mainzer-Saldino syndrome consists of cone-shaped ends of the bones (epiphyses) in the fingers (phalanges) that can be seen on x-ray images after the first year of life. Affected individuals may also have abnormalities of the thigh bones that occur in the epiphyses and adjacent areas where bone growth occurs (the metaphyses). Occasionally, other skeletal abnormalities occur, including short stature and premature fusion of certain skull bones (craniosynostosis) that affects the shape of the head and face. Affected individuals may also have a small rib cage, which sometimes causes breathing problems in infancy, but the breathing problems are usually mild.
A small number of individuals with this disorder have additional problems affecting other organs. These can include liver disease resulting in a buildup of scar tissue in the liver (hepatic fibrosis); cerebellar ataxia, which is difficulty with coordination and balance arising from problems with a part of the brain called the cerebellum; and mild intellectual disability.
## Frequency
Mainzer-Saldino syndrome is a rare disorder; its prevalence is unknown. At least 20 cases have been reported.
## Causes
Mainzer-Saldino syndrome is usually caused by mutations in the IFT140 gene. This gene provides instructions for making a protein that is involved in the formation and maintenance of cilia, which are microscopic, finger-like projections that stick out from the surface of cells and participate in signaling pathways that transmit information within and between cells. Cilia are important for the structure and function of many types of cells, including cells in the kidneys, liver, and brain. Light-sensing cells (photoreceptors) in the retina also contain cilia, which are essential for normal vision. Cilia also play a role in the development of the bones, although the mechanism is not well understood.
The movement of substances within cilia and similar structures called flagella is known as intraflagellar transport (IFT). This process is essential for the assembly and maintenance of these cell structures. During intraflagellar transport, cells use molecules called IFT particles to carry materials to and from the tips of cilia. IFT particles are made of proteins produced from related genes that belong to the IFT gene family. Each IFT particle is made up of two groups of IFT proteins: complex A, which includes at least six proteins, and complex B, which includes at least 15 proteins. The protein produced from the IFT140 gene forms part of IFT complex A (IFT-A).
Mutations in the IFT140 gene that cause Mainzer-Saldino syndrome may change the shape of the IFT140 protein or affect its interactions with other IFT proteins, likely impairing the assembly of IFT-A and the development or maintenance of cilia. As a result, fewer cilia may be present or functional, affecting many organs and tissues in the body and resulting in the signs and symptoms of Mainzer-Saldino syndrome. Disorders such as Mainzer-Saldino syndrome that are caused by problems with cilia and involve bone abnormalities are called skeletal ciliopathies.
While IFT140 gene mutations are believed to account for most cases of Mainzer-Saldino syndrome, mutations in additional genes that have not been identified may also cause this disorder.
### Learn more about the gene associated with Mainzer-Saldino syndrome
* IFT140
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Mainzer-Saldino syndrome | c1849437 | 29,648 | medlineplus | https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome/ | 2021-01-27T08:25:05 | {"gard": ["8600"], "mesh": ["C535463"], "omim": ["266920"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that Senior-Loken syndrome-1 (SLSN1) is caused by homozygous mutation in the NPHP1 gene (607100) on chromosome 2q13.
Description
Senior-Loken syndrome is an autosomal recessive disease with the main features of nephronophthisis (NPHP; see 256100) and Leber congenital amaurosis (see 204000). Mutations in some of the same genes that cause nephronophthisis (see 256100) cause Senior-Loken syndrome.
### Genetic Heterogeneity of Senior-Loken Syndrome
Other forms of SLSN include SLSN4 (606996), caused by mutation in the NPHP4 gene (607215) on chromosome 1p36; SLSN5 (609254), caused by mutation in the NPHP5 gene (IQCB1; 609237) on chromosome 3q13; SLSN6 (610189), caused by mutation in the NPHP6 gene (CEP290; 610142) on chromosome 12q21; SLSN7 (613615), caused by mutation in the SDCCAG8 gene (613524) on chromosome 1q43; SLSN8 (616307), caused by mutation in the WDR19 gene (608151) on chromosome 4p14; and SLSN9 (616629), caused by mutation in the TRAF3IP1 gene (607380) on chromosome 2q37.
Another form of SLSN, SLSN3 (606995), has been mapped to a locus on chromosome 3q22, overlapping the NPHP3 locus (604387).
Nomenclature
The symbols used for the first 3 identified forms of Senior-Loken syndrome were correlated with the original symbols used for proteins mutated in various forms of nephronophthisis (NPHP1-NPHP4). Because no form of SLSN had been found to be associated with the NPHP2 gene (now symbolized INVS, 243305), which is mutant in NPHP2 (602088), the symbol SLSN2 was left out of the series.
Clinical Features
Loken et al. (1961) reported brother and sister with the main features of nephronophthisis and Leber congenital amaurosis. In the sister, renal dysplasia was proved at autopsy. Senior et al. (1961) and Fairley et al. (1963) also reported families with an oculorenal syndrome. In the former family the renal changes resembled those in Fanconi familial juvenile nephronophthisis (256100). In the latter family the renal change was similar to that in polycystic kidney.
In an Amish isolate, Schimke (1969) found 2 cousins with vasopressin-resistant diabetes insipidus, progressive azotemia, and retinitis pigmentosa. A more remotely related person may also have been affected. Despite some histologic similarities to juvenile nephronophthisis and to medullary cystic disease, Schimke (1969) concluded that the total clinicogenetic picture supported the view that this is a distinct entity.
Dekaban (1969) described 2 brothers with congenital retinal blindness and a developmental renal abnormality leading to uremia. Autopsy was performed in 1 of the patients who died at age 10 years.
The heterogeneity of the renal-retinal syndrome is indicated by the variable age of onset of the retinal abnormality. In some families it is congenital, whereas in others it behaves like isolated recessive retinitis pigmentosa. In connection with the longstanding association claimed between juvenile nephronophthisis, bone dysplasia, and retinitis pigmentosa, Mendley et al. (1995) expressed doubts concerning the rigor with which the renal diagnoses has been made in some patients.
Hogewind et al. (1977) found asymptomatic electroretinographic changes in some obligatory heterozygotes for renal-retinal dysplasia. Diekmann et al. (1977) described retinitis pigmentosa and nephronophthisis in 2 young sisters, one of whom died at age 7 years. Boichis et al. (1973), Proesmans et al. (1975), and Delaney et al. (1978) described the triad of nephronophthisis, retinal degeneration or hypoplasia, and congenital hepatic fibrosis. Whether this is a separate entity is not clear. Godel et al. (1979) reviewed the retinopathy in 3 families and emphasized its variability: congenital Leber amaurosis, retinitis pigmentosa, and sector retinitis pigmentosa.
Clarke et al. (1992) described a brother and sister, the products of a first-cousin marriage between parents of Asiatic Indian origin, who had nephronophthisis and retinal dystrophy associated with moderately severe sensorineural hearing loss bilaterally. Deafness had not previously been reported with the Senior-Loken syndrome; Clarke et al. (1992) suggested that this 'may represent a genetically linked condition.'
Warady et al. (1994) reported 2 sporadic cases: a girl in whom the diagnosis of Leber amaurosis had been made at 3 months of age, who had polyuria and polydipsia from the age of 4 years and who was found to have end-stage renal disease at age 11; and a 5.5-year-old boy with Dandy-Walker syndrome, Leber amaurosis, and mental retardation as well as longstanding polyuria and polydipsia.
Population Genetics
The prevalence of nephronophthisis is estimated to be 1 in 100,000, with 1 in 10 affected individuals having retinal dysfunction, constituting Senior-Loken syndrome (summary by Otto et al., 2005).
Molecular Genetics
Caridi et al. (1998) described Senior-Loken syndrome (SLSN1) in patients with homozygous deletion (607100.0005) of the NPHP1 gene.
### Modifier Genes
Khanna et al. (2009) presented evidence that a common allele in the RPGRIP1L gene (A229T; 610937.0013) may be a modifier of retinal degeneration in patients with ciliopathies due to other mutations, including SLSN.
Heterogeneity
Antignac et al. (1993) demonstrated linkage of nephronophthisis to a region on chromosome 2p (NPHP1; 256100) but excluded linkage of Senior-Loken syndrome from this region. They suggested that there may be genetic heterogeneity between nephronophthisis and Senior-Loken syndrome.
Omran et al. (2002) identified a gene locus for Senior-Loken syndrome on chromosome 3q21-q22 (SLSN3; 606995), in the region of the NPHP3 locus (604387).
Schuermann et al. (2002) identified a Senior-Loken syndrome locus on 1p36.31 (SLSN4; 606996), overlapping the NPHP4 locus (606996). In patients with Senior-Loken syndrome mapping to chromosome 1p36, Otto et al. (2002) identified mutations in the NPHP4 gene (607215).
Otto et al. (2005) refined the critical genetic region for SLSN5 to an 8.7-Mb interval containing the IQCB1 gene on chromosome 3q21.1. They identified 8 different mutations in the IQCB1 gene in patients with SLSN (e.g., 609237.0001). All individuals with IQCB1 mutations had retinitis pigmentosa, and Otto et al. (2005) concluded that mutation in IQCB1 is the most frequent cause of SLSN.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Tapetoretinal degeneration \- Flat electroretinogram (ERG) GENITOURINARY Kidneys \- Juvenile nephronophthisis \- End stage renal disease \- Renal failure METABOLIC FEATURES \- Polyuria \- Polydipsia HEMATOLOGY \- Anemia MISCELLANEOUS \- Genetic heterogeneity MOLECULAR BASIS \- Caused by mutation in the nephrocystin gene (NPHP1, 607100.0005 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| SENIOR-LOKEN SYNDROME 1 | c0403553 | 29,649 | omim | https://www.omim.org/entry/266900 | 2019-09-22T16:22:48 | {"doid": ["0050576"], "mesh": ["C537580"], "omim": ["266900"], "orphanet": ["3156"], "synonyms": ["Alternative titles", "SENIOR-LOKEN SYNDROME", "LOKEN-SENIOR SYNDROME", "RENAL-RETINAL SYNDROME", "JUVENILE NEPHRONOPHTHISIS WITH LEBER AMAUROSIS", "RENAL DYSPLASIA AND RETINAL APLASIA"]} |
Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus, syn/brachydactyly), as well as renal and genital anomalies, have also been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Mosaic trisomy 22 | c2931326 | 29,650 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96068 | 2021-01-23T17:17:46 | {"gard": ["6085"], "mesh": ["C536796"], "umls": ["C2931326", "C2931327"], "icd-10": ["Q92.1"], "synonyms": ["Mosaic trisomy chromosome 22", "Trisomy 22 mosaicism"]} |
Goodman et al. (1979) applied the designation ACPS IV to a syndrome they observed in 3 offspring of a first-cousin marriage. They felt that the presence of clinodactyly, camptodactyly, and ulnar deviation distinguished the disorder from Carpenter syndrome. In 3 of 8 children of a first-cousin Iranian Jewish couple, Goodman et al. (1979) observed a seemingly new form of acrocephalopolysyndactyly. Two of the 3 sibs were available for study. One had died previously of acyanotic congenital heart malformation at age 2 and one of the living sibs, a female aged 17 years, had Eisenmenger syndrome. Hall et al. (1980) questioned that one can be certain of the distinctness of the autosomal recessive acrocephalopolysyndactylies because of the marked intrafamilial variability. At the least, differentiation on clinical grounds may be difficult. Cohen et al. (1987) concluded that Goodman syndrome is a variant of the Carpenter syndrome (201000).
Limbs \- Clinodactyly \- Camptodactyly \- Polydactyly \- Syndactyly \- Ulnar deviation Skull \- Acrocephaly Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| ACROCEPHALOPOLYSYNDACTYLY TYPE IV | c0265303 | 29,651 | omim | https://www.omim.org/entry/201020 | 2019-09-22T16:31:36 | {"mesh": ["C537287"], "omim": ["201020"], "orphanet": ["65798"], "synonyms": ["Alternative titles", "ACPS IV", "GOODMAN SYNDROME"]} |
Maternal IgG antibodies
ABO HDN
SpecialtyHematology/pediatrics
In ABO hemolytic disease of the newborn (also known as ABO HDN) maternal IgG antibodies with specificity for the ABO blood group system pass through the placenta to the fetal circulation where they can cause hemolysis of fetal red blood cells which can lead to fetal anemia and HDN. In contrast to Rh disease, about half of the cases of ABO HDN occur in a firstborn baby and ABO HDN does not become more severe after further pregnancies.[citation needed]
The ABO blood group system is the best known surface antigen system, expressed on a wide variety of human cells. For Caucasian populations about one fifth of all pregnancies have ABO incompatibility between the fetus and the mother, but only a very small minority develop symptomatic ABO HDN.[1] The latter typically only occurs in mothers of blood group O, because they can produce enough IgG antibodies to cause hemolysis.[citation needed]
Although very uncommon, cases of ABO HDN have been reported in infants born to mothers with blood groups A[2][3] and B.[4]
## Contents
* 1 Presentation
* 1.1 Complications
* 2 Causes
* 3 Risk factors
* 4 Diagnosis
* 5 Treatment
* 6 See also
* 7 References
* 8 External links
## Presentation[edit]
### Complications[edit]
* High at birth or rapidly rising bilirubin[5]
* Prolonged hyperbilirubinemia[5]
* Bilirubin Induced Neurological Dysfunction[6]
* Cerebral Palsy[7]
* Kernicterus[8]
* Neutropenia[9][10]
* Thrombocytopenia[9]
* Hemolytic Anemia - MUST NOT be treated with iron[11]
* Late onset anemia - Must NOT be treated with iron. Can persist up to 12 weeks after birth.[12][13][14]
## Causes[edit]
Environmental exposure
Anti-A and anti-B antibodies are usually IgM and do not pass through the placenta, but some mothers "naturally" have IgG anti-A or IgG anti-B antibodies, which can pass through the placenta. Exposure to A-antigens and B-antigens, which are both widespread in nature, usually leads to the production of IgM anti-A and IgM anti-B antibodies but occasionally IgG antibodies are produced.[citation needed]
Fetal-maternal transfusion
Some mothers may be sensitized by fetal-maternal transfusion of ABO incompatible red blood and produce immune IgG antibodies against the antigen they do not have and their baby does. For example, when a mother of genotype OO (blood group O) carries a fetus of genotype AO (blood group A) she may produce IgG anti-A antibodies. The father will either have blood group A, with genotype AA or AO or, more rarely, have blood group AB, with genotype AB.P[citation needed]
Blood transfusion
It would be very rare for ABO sensitization to be due to therapeutic blood transfusion as a great deal of effort and checking is done to ensure that blood is ABO compatible between the recipient and the donor.[citation needed]
## Risk factors[edit]
In about a third of all ABO incompatible pregnancies maternal IgG anti-A or IgG anti-B antibodies pass through the placenta to the fetal circulation leading to a weakly positive direct Coombs test for the neonate's blood. However, ABO HDN is generally mild and short-lived and only occasionally severe because:
* IgG anti-A (or IgG anti-B) antibodies that enter the fetal circulation from the mother find A (or B) antigens on many different fetal cell types, leaving fewer antibodies available for binding onto fetal red blood cells.[15]
* Fetal RBC surface A and B antigens are not fully developed during gestation and so there are a smaller number of antigenic sites on fetal RBCs.[15]
## Diagnosis[edit]
Routine antenatal antibody screening blood tests (indirect Coombs test) do not screen for ABO HDN.[citation needed] If IgG anti-A or IgG anti-B antibodies are found in the pregnant woman's blood, they are not reported with the test results, because they do not correlate well with ABO HDN.[citation needed] Diagnosis is usually made by investigation of a newborn baby who has developed jaundice during the first week of life.
Testing
* Coombs - after birth baby will have a direct coombs test run to confirm antibodies attached to the infant's red blood cells. This test is run from cord blood.[5] In some cases, the direct coombs will be negative but severe, even fatal HDN can occur.[16] An indirect coombs needs to be run in cases of anti-C,[17] anti-c,[17] and anti-M. Anti-M also recommends antigen testing to rule out the presence of HDN.[18]
* Hgb - the infant's hemoglobin should be tested from cord blood.[5]
* Reticulocyte count - Reticulocytes are elevated when the infant is producing more blood to combat anemia.[5] A rise in the retic count can mean that an infant may not need additional transfusions.[19] Low retic is observed in infants treated with IUT and in those with HDN from anti-Kell[17]
* Neutrophils - as Neutropenia is one of the complications of HDN, the neutrophil count should be checked.[9][10]
* Thrombocytes - as thrombocytopenia is one of the complications of HDN, the thrombocyte count should be checked.[9]
* Bilirubin should be tested from cord blood.[5]
* Ferritin - because most infants affected by HDN have iron overload, a ferritin must be run before giving the infant any additional iron.[11]
* Newborn Screening Tests - Transfusion with donor blood during pregnancy or shortly after birth can affect the results of the Newborn Screening Tests. It is recommended to wait and retest 10–12 months after last transfusion. In some cases, DNA testing from saliva can be used to rule out certain conditions.[citation needed]
## Treatment[edit]
The antibodies in ABO HDN cause anemia due to destruction of fetal red blood cells and jaundice due to the rise in blood levels of bilirubin a by-product of hemoglobin break down. If the anemia is severe, it can be treated with a blood transfusion, however this is rarely needed. On the other hand, neonates have underdeveloped livers that are unable to process large amounts of bilirubin and a poorly developed blood-brain barrier that is unable to block bilirubin from entering the brain. This can result in kernicterus if left unchecked. If the bilirubin level is sufficiently high as to cause worry, it can be lowered via phototherapy in the first instance or an exchange transfusion if severely elevated.[citation needed]
* Phototherapy - Phototherapy is used for cord bilirubin of 3 or higher. Some doctors use it at lower levels while awaiting lab results.[20]
* IVIG - Intravenous Immunoglobulin therapy (IVIG) has been used to successfully treat many cases of HDN. It has been used not only on anti-D, but on anti-E as well.[21] IVIG can be used to reduce the need for exchange transfusion and to shorten the length of phototherapy.[22] The AAP recommends "In isoimmune hemolytic disease, administration of intravenous γ-globulin (0.5-1 g/kg over 2 hours) is recommended if the TSB is rising despite intensive phototherapy or the TSB level is within 2 to 3 mg/dL (34-51 μmol/L) of the exchange level . If necessary, this dose can be repeated in 12 hours (evidence quality B: benefits exceed harms). Intravenous γ-globulin has been shown to reduce the need for exchange transfusions in Rh and ABO hemolytic disease."[20]
* Exchange transfusion - Exchange transfusion is used when bilirubin reaches either the high or medium risk lines on the normogram provided by the American Academy of Pediatrics (Figure 4).[20] Cord bilirubin >4 is also indicative of the need for exchange transfusion.[23]
## See also[edit]
* Coombs test
* Hemolytic anemia
* Hematology
## References[edit]
1. ^ http://www.obgyn.net/english/pubs/features/presentations/panda13/ABO-Rh.ppt[full citation needed]
2. ^ Wang, Michael; Hays, Taru; Ambruso, Dan R.; Silliman, Christopher C.; Dickey, William C. (2005). "Hemolytic disease of the newborn caused by a high titer anti-group B IgG from a group a mother". Pediatric Blood & Cancer. 45 (6): 861–2. doi:10.1002/pbc.20503. PMID 16007582.
3. ^ Jeon, H; Calhoun, B; Pothiawala, M; Herschel, M; Baron, B. W. (2000). "Significant ABO hemolytic disease of the newborn in a group B infant with a group A2 mother". Immunohematology. 16 (3): 105–8. PMID 15373613.
4. ^ Haque, K. M.; Rahman, M (2000). "An unusual case of ABO-haemolytic disease of the newborn". Bangladesh Medical Research Council Bulletin. 26 (2): 61–4. PMID 11508073.
5. ^ a b c d e f Murray, N. A; Roberts, I. A G (2007). "Haemolytic disease of the newborn". Archives of Disease in Childhood: Fetal and Neonatal Edition. 92 (2): F83–8. doi:10.1136/adc.2005.076794. PMC 2675453. PMID 17337672.
6. ^ Shapiro, Steven M (2004). "Definition of the Clinical Spectrum of Kernicterus and Bilirubin-Induced Neurologic Dysfunction (BIND)". Journal of Perinatology. 25 (1): 54–9. doi:10.1038/sj.jp.7211157. PMID 15578034. S2CID 19663259.
7. ^ Blair, Eve; Watson, Linda (2006). "Epidemiology of cerebral palsy". Seminars in Fetal and Neonatal Medicine. 11 (2): 117–25. doi:10.1016/j.siny.2005.10.010. PMID 16338186.
8. ^ Lande, Lottie (1948). "Clinical signs and development of survivors of kernicterus due to Rh sensitization". The Journal of Pediatrics. 32 (6): 693–705. doi:10.1016/S0022-3476(48)80225-8. PMID 18866937.
9. ^ a b c d Koenig, J. M.; Christensen, R. D. (1989). "Neutropenia and thrombocytopenia in infants with Rh hemolytic disease". The Journal of Pediatrics. 114 (4 Pt 1): 625–31. doi:10.1016/s0022-3476(89)80709-7. PMID 2494315.
10. ^ a b Lalezari, P; Nussbaum, M; Gelman, S; Spaet, T. H. (1960). "Neonatal neutropenia due to maternal isoimmunization". Blood. 15 (2): 236–43. doi:10.1182/blood.V15.2.236.236. PMID 14413526.[permanent dead link]
11. ^ a b Rath, M. E. A.; Smits-Wintjens, V. E. H. J.; Oepkes, D.; Walther, F. J.; Lopriore, E. (2013). "Iron status in infants with alloimmune haemolytic disease in the first three months of life". Vox Sanguinis. 105 (4): 328–33. doi:10.1111/vox.12061. PMID 23802744.
12. ^ Mitchell, S; James, A (1999). "Severe late anemia of hemolytic disease of the newborn". Paediatrics & Child Health. 4 (3): 201–3. doi:10.1093/pch/4.3.201. PMC 2828194. PMID 20212966.
13. ^ Al-Alaiyan, S.; Al Omran, A. (1999). "Late hyporegenerative anemia in neonates with rhesus hemolytic disease". Journal of Perinatal Medicine. 27 (2): 112–5. doi:10.1515/JPM.1999.014. PMID 10379500. S2CID 32155893.
14. ^ Jadala, Hareesh; V., Pooja; K., Raghavendra; M., Prithvish; B., Srinivas (2016). "Late onset severe anemia due to rhesus isoimmunization". International Journal of Contemporary Pediatrics: 1472–3. doi:10.18203/2349-3291.ijcp20163704.
15. ^ a b Bethesda DL (2005). "Hemolytic disease of the newborn". Blood Groups and Red Cell Antigens. National Center for Biotechnology Information.
16. ^ Heddle, N. M.; Wentworth, P.; Anderson, D. R.; Emmerson, D.; Kelton, J. G.; Blajchman, M. A. (1995). "Three examples of Rh haemolytic disease of the newborn with a negative direct antiglobulin test". Transfusion Medicine. 5 (2): 113–6. doi:10.1111/j.1365-3148.1995.tb00197.x. PMID 7655573.
17. ^ a b c Hemolytic Disease of Newborn~workup at eMedicine
18. ^ Arora, Satyam; Doda, Veena; Maria, Arti; Kotwal, Urvershi; Goyal, Saurabh (2015). "Maternal anti-M induced hemolytic disease of newborn followed by prolonged anemia in newborn twins". Asian Journal of Transfusion Science. 9 (1): 98–101. doi:10.4103/0973-6247.150968. PMC 4339947. PMID 25722586.
19. ^ https://www.ucsfbenioffchildrens.org/pdf/manuals/42_Hemol.pdf[full citation needed]
20. ^ a b c American Academy of Pediatrics Subcommittee on Hyperbilirubinemia. (2004). "Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation". Pediatrics. 114 (1): 297–316. doi:10.1542/peds.114.1.297. PMID 15231951.
21. ^ Onesimo, Roberta; Rizzo, Daniela; Ruggiero, Antonio; Valentini, Piero (2010). "Intravenous Immunoglobulin therapy for anti-E hemolytic disease in the newborn". The Journal of Maternal-Fetal & Neonatal Medicine. 23 (9): 1059–61. doi:10.3109/14767050903544751. PMID 20092394. S2CID 25144401.
22. ^ Gottstein, R (2003). "Systematic review of intravenous immunoglobulin in haemolytic disease of the newborn". Archives of Disease in Childhood: Fetal and Neonatal Edition. 88 (1): F6–10. doi:10.1136/fn.88.1.F6. PMC 1755998. PMID 12496219.
23. ^ Hemolytic Disease of Newborn~followup at eMedicine
## External links[edit]
Classification
D
* ICD-9-CM: 773.1
External resources
* MedlinePlus: 001298
* v
* t
* e
Conditions originating in the perinatal period / fetal disease
Maternal factors
complicating pregnancy,
labour or delivery
placenta
* Placenta praevia
* Placental insufficiency
* Twin-to-twin transfusion syndrome
chorion/amnion
* Chorioamnionitis
umbilical cord
* Umbilical cord prolapse
* Nuchal cord
* Single umbilical artery
presentation
* Breech birth
* Asynclitism
* Shoulder presentation
Growth
* Small for gestational age / Large for gestational age
* Preterm birth / Postterm pregnancy
* Intrauterine growth restriction
Birth trauma
* scalp
* Cephalohematoma
* Chignon
* Caput succedaneum
* Subgaleal hemorrhage
* Brachial plexus injury
* Erb's palsy
* Klumpke paralysis
Affected systems
Respiratory
* Intrauterine hypoxia
* Infant respiratory distress syndrome
* Transient tachypnea of the newborn
* Meconium aspiration syndrome
* Pleural disease
* Pneumothorax
* Pneumomediastinum
* Wilson–Mikity syndrome
* Bronchopulmonary dysplasia
Cardiovascular
* Pneumopericardium
* Persistent fetal circulation
Bleeding and
hematologic disease
* Vitamin K deficiency bleeding
* HDN
* ABO
* Anti-Kell
* Rh c
* Rh D
* Rh E
* Hydrops fetalis
* Hyperbilirubinemia
* Kernicterus
* Neonatal jaundice
* Velamentous cord insertion
* Intraventricular hemorrhage
* Germinal matrix hemorrhage
* Anemia of prematurity
Gastrointestinal
* Ileus
* Necrotizing enterocolitis
* Meconium peritonitis
Integument and
thermoregulation
* Erythema toxicum
* Sclerema neonatorum
Nervous system
* Perinatal asphyxia
* Periventricular leukomalacia
Musculoskeletal
* Gray baby syndrome
* muscle tone
* Congenital hypertonia
* Congenital hypotonia
Infections
* Vertically transmitted infection
* Neonatal infection
* rubella
* herpes simplex
* mycoplasma hominis
* ureaplasma urealyticum
* Omphalitis
* Neonatal sepsis
* Group B streptococcal infection
* Neonatal conjunctivitis
Other
* Miscarriage
* Perinatal mortality
* Stillbirth
* Infant mortality
* Neonatal withdrawal
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Hemolytic disease of the newborn (ABO) | None | 29,652 | wikipedia | https://en.wikipedia.org/wiki/Hemolytic_disease_of_the_newborn_(ABO) | 2021-01-18T18:58:51 | {"icd-9": ["773.1"], "icd-10": ["P55.1"], "wikidata": ["Q17002910"]} |
Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.
## Epidemiology
Prevalence of all types of HPS is estimated at between 1/500,000 and 1/1,000,000 in non-Puerto Rican populations. In northwestern Puerto Rico the prevalence of HSP-1 is 1/1,800 due to a founder effect. HSP-1 is reported in sporadic patients worldwide; founder effects have (apart from Puerto Rico) also been reported in a small isolate in a Swiss village and in Japan. Prevalence of HSP-4 is unknown, but to date around 20 patients have been described worldwide.
## Clinical description
HPS-1 and HPS-4 present with features of HPS including oculocutaneous albinisim, reduced visual acuity, horizontal nystagmus, easy bruising of soft tissues, epistaxis, and prolonged bleeding after dental extraction, surgery or childbirth. Women may present with medically significant menstrual bleeding. Complications of HPS may include granulomatous colitis and pulmonary fibrosis. Pulmonary fibrosis is the most serious complication of HPS-1 and HPS-4 and usually presents in the fourth or fifth decade.
## Etiology
HPS-1 is caused by mutations in the HPS1 gene (10q23.1) and HPS-4 is caused by mutations in the HPS4 gene (22q11.2-q12.2). The gene products, HPS1 and HPS4, are part of the multi-subunit complex BLOC-3 (biogenesis of lysosome-related organelles complex 3).
## Genetic counseling
HPS1 and HPS4 are both transmitted in an autosomal recessive manner.
## Management and treatment
Lung transplant is the only known treatment for pulmonary fibrosis in HPS-1 and HPS-4. Pirfenidone may slow progression but only in patients who have significant residual lung function. Steroid therapy is not effective.
## Prognosis
Prognosis is poor as the pulmonary fibrosis is fatal.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Hermansky-Pudlak syndrome with pulmonary fibrosis | c2931875 | 29,653 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231500 | 2021-01-23T17:45:08 | {"mesh": ["C538539"], "omim": ["203300", "614073"], "icd-10": ["E70.3"], "synonyms": ["HPS with pulmonary fibrosis"]} |
Human disease
Pituitary adenoma
Visual field loss in bitemporal hemianopsia: peripheral vision loss affecting both eyes, resulting from a tumor-typically a pituitary adenoma- putting pressure on the optic chiasm.
SpecialtyOncology, endocrinology
Pituitary adenomas are tumors that occur in the pituitary gland. Pituitary adenomas are generally divided into three categories dependent upon their biological functioning: benign adenoma, invasive adenoma, and carcinomas. Most adenomas are benign, approximately 35% are invasive and just 0.1% to 0.2% are carcinomas.[1] Pituitary adenomas represent from 10% to 25% of all intracranial neoplasms and the estimated prevalence rate in the general population is approximately 17%.[1][2]
Non-invasive and non-secreting pituitary adenomas are considered to be benign in the literal as well as the clinical sense; however a recent meta-analysis (Fernández-Balsells, et al. 2011) of available research has shown there are to date scant studies – of poor quality – to either support or refute this assumption.
Adenomas exceeding 10 mm (0.39 in) in size are defined as macroadenomas, with those smaller than 10 mm (0.39 in) referred to as microadenomas. Most pituitary adenomas are microadenomas and have an estimated prevalence of 16.7% (14.4% in autopsy studies and 22.5% in radiologic studies).[2][3] A majority of pituitary microadenomas often remain undiagnosed, and those that are diagnosed are often found as an incidental finding and are referred to as incidentalomas.
Pituitary macroadenomas are the most common cause of hypopituitarism.[4][5]
While pituitary adenomas are common, affecting approximately one in 6 of the general population, clinically active pituitary adenomas that require surgical treatment are more rare, affecting approximately one in 1,000 of the general population.[6]
## Contents
* 1 Signs and symptoms
* 1.1 Physical
* 1.2 Psychiatric
* 1.3 Complications
* 2 Risk factors
* 2.1 Multiple endocrine neoplasia
* 2.2 Carney complex
* 2.3 Familial isolated pituitary adenoma
* 2.3.1 Genetics of FIPA
* 3 Mechanism
* 4 Diagnosis
* 4.1 Classification
* 4.1.1 Pituitary incidentalomas
* 4.1.2 Ectopic pituitary adenoma
* 4.1.3 Metastases to the pituitary gland
* 5 Treatment
* 6 See also
* 7 References
* 8 External links
## Signs and symptoms[edit]
### Physical[edit]
Hormone secreting pituitary adenomas cause one of several forms of hyperpituitarism. The specifics depend on the type of hormone. Some tumors secrete more than one hormone, the most common combination[citation needed] being GH and prolactin, which present as unexpected bone growth and unexpected lactation (in both men and women).
A patient with pituitary adenoma may present with visual field defects, classically bitemporal hemianopsia. It arises from the compression of the optic nerve by the tumor. The specific area of the visual pathway at which compression by these tumours occurs is at the optic chiasma. The anatomy of this structure causes pressure on it to produce a defect in the temporal visual field on both sides, a condition called bitemporal hemianopsia. If originating superior to the optic chiasm, more commonly in a craniopharyngioma of the pituitary stalk, the visual field defect will first appear as bitemporal inferior quadrantanopia, if originating inferior to the optic chiasm the visual field defect will first appear as bitemporal superior quadrantanopia. Lateral expansion of a pituitary adenoma can also compress the abducens nerve, causing a lateral rectus palsy.[citation needed]
Also, a pituitary adenoma can cause symptoms of increased intracranial pressure.Prolactinomas often start to give symptoms especially during pregnancy, when the hormone progesterone increases the tumor's growth rate.
Various types of headaches are common in patients with pituitary adenomas. The adenoma may be the prime causative factor behind the headache or may serve to exacerbate a headache caused by other factors. Amongst the types of headaches experienced are both chronic and episodic migraine, and more uncommonly various unilateral headaches; primary stabbing headache,[7] short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT)[8] \- another type of stabbing headache characterized by short stabs of pain -, cluster headache,[9] and hemicrania continua (HS).[10]
Compressive symptoms of pituitary adenomas (visual field deficits, decreased visual acuity, headaches) are more commonly seen with macroadenomas (which are greater than 10 mm in diameter) than with microadenomas (which are less than 10 mm in diameter).[11]
Non-secreting adenomas can go undetected for an extended time because no obvious abnormalities are seen; the gradual reduction in normal activities due to decreased production of hormones is rather less evident. For example, insufficient adrenocorticotropic hormone means that the adrenal glands will not produce sufficient cortisol, resulting in slow recovery from illness, inflammation and chronic fatigue; insufficient growth hormone in children and adolescents leads to diminished stature but which can have many other explanations.[citation needed]
### Psychiatric[edit]
Various psychiatric manifestations have been associated with pituitary disorders including pituitary adenomas. Psychiatric symptoms such as depression, anxiety[12] apathy, emotional instability, easy irritability and hostility have been noted.[13]
### Complications[edit]
Morphological facial changes caused by acromegaly; frontal bossing, enlarged nose, prognathism and maxillary widening with separation of teeth and unseen, enlargement of the tongue (macroglossia).
* Acromegaly is a syndrome that results when the anterior pituitary gland produces excess growth hormone (GH). Approximately 90-95% of acromegaly cases are caused by a pituitary adenoma and it most commonly affects middle aged adults,[14] Acromegly can result in severe disfigurement, serious complicating conditions, and premature death if unchecked. The disease which is often also associated with gigantism, is difficult to diagnose in the early stages and is frequently missed for many years, until changes in external features, especially of the face, become noticeable with the median time from the development of initial symptoms to diagnosis being twelve years.[15]
* Cushing's syndrome is a hormonal disorder that causes hypercortisolism, which is elevated levels of cortisol in the blood. Cushing's disease (CD) is the most frequent cause of Cushing's syndrome, responsible for approximately 70% of cases.[16] CD results when a pituitary adenoma causes excessive secretion of adrenocorticotropic hormone (ACTH) that stimulates the adrenal glands to produce excessive amounts of cortisol.[17]
Cushing's disease may cause fatigue, weight gain, fatty deposits around the abdomen and lower back (truncal obesity) and face ("moon face"), stretch marks (striae) on the skin of the abdomen, thighs, breasts, and arms, hypertension, glucose intolerance, and various infections. In women it may cause excessive growth of facial hair (hirsutism) and in men erectile dysfunction. Psychiatric manifestations may include depression, anxiety, easy irritability and emotional instability. It may also result in various cognitive difficulties.
* Hyperpituitarism is a disease of the anterior lobe of the pituitary gland which is usually caused by a functional pituitary adenoma and results in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone; and adrenocorticotropic hormone.
* Pituitary apoplexy is a condition that occurs when pituitary adenomas suddenly hemorrhage internally, causing a rapid increase in size or when the tumor outgrows its blood supply which causes tissue necrosis and subsequent swelling of the dead tissue. Pituitary apoplexy often presents with visual loss and sudden onset headache and requires timely treatment often with corticosteroids and if necessary surgical intervention.[18]
* Central diabetes insipidus is caused by diminished production of the antidiuretic hormone vasopressin that causes severe thirst and excessive production of very dilute urine (polyuria) which can lead to dehydration. Vasopressin is produced in the hypothalamus and is then transported down the pituitary stalk and stored in the posterior lobe of the pituitary gland which then secretes it into the bloodstream.[19]
As the pituitary gland is in close proximity to the brain, invasive adenomas may invade the dura mater, cranial bone, or sphenoid bone.[citation needed]
## Risk factors[edit]
### Multiple endocrine neoplasia[edit]
Adenomas of the anterior pituitary gland are a major clinical feature of multiple endocrine neoplasia type 1 (MEN1), a rare inherited endocrine syndrome that affects 1 person in every 30,000. MEN causes various combinations of benign or malignant tumors in various glands in the endocrine system or may cause the glands to become enlarged without forming tumors. It often affects the parathyroid glands, pancreatic islet cells, and anterior lobe of the pituitary gland. MEN1 may also cause non-endocrine tumors such as facial angiofibromas, collagenomas, lipomas, meningiomas, ependymomas, and leiomyomas. Approximately 25 percent of patients with MEN1 develop pituitary adenomas.[20][21]
### Carney complex[edit]
Carney complex (CNC), also known as LAMB syndrome[22] and NAME syndrome[22] is an autosomal dominant condition comprising myxomas of the heart and skin, hyperpigmentation of the skin (lentiginosis), and endocrine overactivity and is distinct from Carney's triad.[23][24] Approximately 7% of all cardiac myxomas are associated with Carney complex.[25] Patients with CNC develop growth hormone (GH)-producing pituitary tumors and in some instances these same tumors also secrete prolactin. There are however no isolated prolactinomas or any other type of pituitary tumor. In some patients with CNC, the pituitary gland is characterized by hyperplastic areas with the hyperplasia most likely preceding the formation of GH-producing adenomas.[26]
### Familial isolated pituitary adenoma[edit]
Familial isolated pituitary adenoma (FIPA) is a term that is used to identify a condition that displays an autosomal dominant inheritance and is characterised by the presence of two or more related patients affected by adenomas of the pituitary gland only, with no other associated symptoms that occur in multiple endocrine neoplasia type 1 (MEN-1) or Carney complex.[27][28] FIPA was first described in a limited cohort of families by Albert Beckers group in Liège, Belgium;[29] later FIPA was fully characterized in a multicenter international study of 64 families.[28] FIPA families are divided into those that are homogenous and have the same type of pituitary adenoma in all the affected family members (e.g. only acromegaly, only prolactinoma, etc), while heterogeneous FIPA families can have different pituitary adenomas in affected family members.[30]
#### Genetics of FIPA[edit]
FIPA has two known genetic causes, mutations in the AH receptor-interacting protein (AIP) gene[31] and duplications in chromosome Xq26.3 that include the GPR101 gene that also causes X-linked acrogigantism (X-LAG) syndrome.[32] About 15-20% of FIPA families carry a germline AIP gene mutation or deletion, and the disease occurs as autosomal dominant with incomplete penetrance, meaning that about 20% of AIP mutation carriers will develop a pituitary adenoma.[30] AIP mutation associated pituitary adenomas (either presenting as FIPA or as individual, non familial cases) are usually growth hormone secreting (acromegaly) or prolactin secreting (prolactinoma) adenomas that are large (macroadenomas) and often occur in children, adolescents and young adults. Daly and colleagues showed that acromegaly cases with AIP mutations occurred about 20 years before acromegaly cases without AIP mutations and these tumors are large and relatively treatment resistant.[33] Due to their young age at onset, AIP mutations are the most frequent genetic cause of pituitary gigantism (29% of cases).[34]
X-LAG is a rare syndrome of very early childhood onset pituitary tumors/hyperplasia that leads to growth hormone excess and severe overgrowth and pituitary gigantism.[32][35] Three FIPA families with X-LAG have been reported to date all of which had transmission of a chromosome Xq26.3 duplication from affected mother to affected son.[35][32] The disease characteristics of very young onset pituitary gigantism leads to severe overgrowth if not treated adequately; many of the tallest humans in history (e.g. Robert Pershing Wadlow; Sandy Allen, André Rousimoff (Andre the Giant), Zeng Jinlian) had a similar clinical history to patients with X-LAG syndrome.[36] The tallest historical individual with a known genetic cause was Julius Koch (Geant Constantin) who was found to have X-LAG on genetic study of his skeleton.[37] X-LAG has 100% penetrance so far (all affected with the Xq26.3 duplication have the disease and it affects predominantly females.[32] Isolated non familial cases of X-LAG can either have a constitutional duplication of a chromosome Xq26.3 including GPR101, or mosaicism for the duplication (present in a minority of cells) in the case of isolated male patients.[38] X-LAG causes about 10% of cases of pituitary gigantism.[34]
## Mechanism[edit]
Pituitary gland
The pituitary gland or hypophysis is often referred to as the "master gland" of the human body. Part of the hypothalamic-pituitary axis, it controls most of the body's endocrine functions via the secretion of various hormones into the circulatory system. The pituitary gland is located below the brain in a depression (fossa) of the sphenoid bone known as the sella turcica. Although anatomically and functionally connected to the brain, the pituitary gland[39] sits outside the blood–brain barrier. It is separated from the subarachnoid space by the diaphragma sella, therefore the arachnoid mater and thus cerebral spinal fluid cannot enter the sella turcica.
The pituitary gland is divided into two lobes, the anterior lobe (which accounts for two thirds of the volume of the gland), and the posterior lobe (one third of the volume) separated by the pars intermedia.[citation needed]
The posterior lobe (the neural lobe or neurohypophysis) of the pituitary gland is not, despite its name, a true gland. The posterior lobe contains axons of neurons that extend from the hypothalamus to which it is connected via the pituitary stalk. The hormones vasopressin and oxytocin, produced by the neurons of the supraoptic and paraventricular nuclei of the hypothalamus, are stored in the posterior lobe and released from axon endings (dendrites) within the lobe.[40]
The pituitary gland's anterior lobe (adenohypophysis) is a true gland which produces and secretes six different hormones: thyroid-stimulating hormone (TSH), adrenocorticotropic hormone (ACTH), follicle-stimulating hormone (FSH), luteinizing hormone (LH), growth hormone (GH), and prolactin (PRL).[41]
## Diagnosis[edit]
Diagnosis of pituitary adenoma can be made, or at least suspected, by a constellation of related symptoms presented above.[citation needed]
The differential diagnosis includes pituitary tuberculoma, especially in developing countries and in immumocompromised patients.[42] The diagnosis is confirmed by testing hormone levels, and by radiographic imaging of the pituitary (for example, by CT scan or MRI).
### Classification[edit]
Unlike tumors of the posterior Pituitary, Pituitary adenomas are classified as endocrine tumors (not brain tumors). Pituitary adenomas are classified based upon anatomical, histological and functional criteria.[43]
* Anatomically pituitary tumors are classified by their size based on radiological findings; either microadenomas (less than <10 mm) or macroadenomas (equal or greater than ≥10 mm).
Classification based on radioanatomical findings places adenomas into 1 of 4 grades (I–IV):[44]
Stage I: microadenomas (<1 cm) without sella expansion.
Stage II: macroadenomas (≥1 cm) and may extend above the sella.
Stage III: macroadenomas with enlargement and invasion of the floor or suprasellar extension.
Stage IV is destruction of the sella.
* Histological classification utilizes an immunohistological characterization of the tumors in terms of their hormone production.[43] Historically they were classed as either basophilic, acidophilic, or chromophobic on the basis of whether or not they took up the tinctorial stains hematoxylin and eosin. This classification has fallen into disuse, in favor of a classification based on what type of hormone is secreted by the tumor. Approximately 20-25% of adenomas do not secrete any readily identifiable active hormones ('non-functioning tumors') yet they are still sometimes referred to as 'chromophobic'.
* Functional classification is based upon the tumors endocrine activity as determined by serum hormone levels and pituitary tissue cellular hormone secretion detected via immunohistochemical staining.[45] The "Percentage of hormone production cases" values are the fractions of adenomas producing each related hormone of each tumor type as compared to all cases of pituitary tumors, and does not directly correlate to the percentages of each tumor type because of smaller or greater incidences of absence of secretion of the expected hormone. Thus, nonsecretive adenomas may be either null cell adenomas or a more specific adenoma that, however, remains nonsecretive.
* Any type of pituitary adenocarcinoma listed in the table below may cause compressive symptoms due to local expansion in addition to the systemic effects of secreted hormones listed in the pathology column.
* Null cell adenomas by definition do not secrete hormones, but they commonly cause compressive effects on the pituitary stalk (stalk effect). This leads to decreased levels of dopamine from the hypothalamus reaching the anterior pituitary gland. Dopamine exerts an inhibitory effect on prolactin sectretion. With the absence of this inhibitory effect, prolactin levels increase and are often increased in null cell adenomas. This leads to symptoms of hypogonadism.[11]
Type of adenoma Secretion Staining Pathology Percentage of hormone production cases Percentage of silent cases[46]
lactotrophic adenomas (prolactinomas) secrete prolactin acidophilic galactorrhea, hypogonadism, amenorrhea, infertility, and impotence 30%[47] <9%[46]
somatotrophic adenomas secrete growth hormone (GH) acidophilic acromegaly in adults; gigantism in children 15%[47] <9%[46]
corticotrophic adenomas secrete adenocorticotropic hormone (ACTH) basophilic Cushing's disease 2-6%[11] 10%
gonadotrophic adenomas secrete luteinizing hormone (LH), follicle-stimulating hormone (FSH) and their subunits basophilic usually do not cause symptoms, occasionally hypergonadism[11] 10%[47] 73%[46]
thyrotrophic adenomas (rare) secrete thyroid-stimulating hormone (TSH) basophilic to chromophobic occasionally hyperthyroidism,[48] usually do not cause symptoms Less than 1%[47] <9%
null cell adenomas do not secrete hormones may stain positive for synaptophysin Asymptomatic or hypogonadism[11] 25% of pituitary adenomas are nonsecretive[47] 1%[46]
* Somatotroph pituitary adenoma, showing acidophilic cytoplasm
* A silent gonadotroph pituitary adenoma which is in this case is eosinophilic (contrary to normal, basophilic, gonadotroph cells)
* True null cell adenomas are typically composed of uniform, mildly atypical cells with chromophobic cytoplasm. This case has papillary architecture similar to gonadotroph adenomas.[49]
#### Pituitary incidentalomas[edit]
Pituitary incidentalomas are pituitary tumors that are characterized as an incidental finding. They are often discovered by computed tomography (CT) or magnetic resonance imaging (MRI), performed in the evaluation of unrelated medical conditions such as suspected head trauma, in cancer staging or in the evaluation of nonspecific symptoms such as dizziness and headache. It is not uncommon for them to be discovered at autopsy. In a meta-analysis, adenomas were found in an average of 16.7% in postmortem studies, with most being microadenomas (<10mm); macrodenomas accounted for only 0.16% to 0.2% of the decedents.[2] While non-secreting, noninvasive pituitary microadenomas are generally considered to be literally as well as clinically benign, there are to date scant studies of low quality to support this assertion.[50]
It has been recommended in the current Clinical Practice Guidelines (2011) by the Endocrine Society \- a professional, international medical organization in the field of endocrinology and metabolism - that all patients with pituitary incidentalomas undergo a complete medical history and physical examination, laboratory evaluations to screen for hormone hypersecretion and for hypopituitarism. If the lesion is in close proximity to the optic nerves or optic chiasm, a visual field examination should be performed. For those with incidentalomas which do not require surgical removal, follow up clinical assessments and neuroimaging should be performed as well follow-up visual field examinations for incidentalomas that abut or compress the optic nerve and chiasm and follow-up endocrine testing for macroincidentalomas.[51]
#### Ectopic pituitary adenoma[edit]
An ectopic (occurring in an abnormal place) pituitary adenoma is a rare type of tumor which occurs outside of the sella turcica, most often in the sphenoid sinus,[52] suprasellar region, nasopharynx and the cavernous sinuses.[53]
#### Metastases to the pituitary gland[edit]
Carcinomas that metastasize into the pituitary gland are uncommon and typically seen in the elderly,[54][55] with lung and breast cancers being the most prevalent,[56] In breast cancer patients, metastases to the pituitary gland occur in approximately 6-8% of cases.[57]
Symptomatic pituitary metastases account for only 7% of reported cases. In those who are symptomatic Diabetes insipidus often occurs with rates approximately 29-71%. Other commonly reported symptoms include anterior pituitary dysfunction, visual field defects, headache/pain, and ophthalmoplegia.[58]
## Treatment[edit]
Treatment options depend on the type of tumor and on its size:
* Prolactinomas are most often treated with cabergoline or quinagolide (both dopamine agonists), which decrease tumor size as well as alleviates symptoms, followed by serial imaging to detect any increase in size. Treatment where the tumor is large can be with radiation therapy, proton therapy or surgery, and patients generally respond well. Unlike prolactinomas, thyrotrophic adenomas characteristically respond poorly to dopamine agonist treatment.[48]
* Somatotrophic adenomas respond to octreotide or lanreotide, which are long-acting somatostatin analogs. These somatostatin receptor analogs inhibit secretion of growth hormone. They were found to be about 50-55% effective in reducing tumor mass and reducing growth hormone and insulin like growth factor 1 (IGF-1) levels in studies.[11] The growth hormone receptor antagonist pegvisomant is also used in the treatment of somatotrophic adenomas. Pegvisomant blocks the action of growth hormone. It can either be used as monotherapy or combined with a somatostatin analog.[59]
* Surgery is a common treatment for pituitary tumors. The normal approach is trans-sphenoidal adenectomy, which usually can remove the tumor without affecting the brain or optic nerves.[60]
* Radiation is also used to treat pituitary adenomas. Examples include external beam or proton beam radiation therapy or stereotactic radiosurgery. External radiation of pituitary adenomas can arrest tumor growth for several years but pituitary failure develops within 10 years in most patients necessitating lifelong hormone replacement.[11] Radiation therapy for pituitary adenomas is associated with a 4 fold increase in mortality due to cerebrovascular disease.[11]
## See also[edit]
* Pituitary disease
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46. ^ a b c d e Type as determined by transcription factors and cellular hormones:
Drummond, Juliana; Roncaroli, Federico; Grossman, Ashley B; Korbonits, Márta (2019). "Clinical and Pathological Aspects of Silent Pituitary Adenomas". The Journal of Clinical Endocrinology & Metabolism. 104 (7): 2473–2489. doi:10.1210/jc.2018-00688. ISSN 0021-972X. PMC 6517166. PMID 30020466.
47. ^ a b c d e Reddy, S. Sethu K.; Hamrahian, Amir H. (2009). "Pituitary Disorders and Multiple Endocrine Neoplasia Syndromes". In Stoller, James K.; Michota, Franklin A.; Mandell, Brian F. (eds.). The Cleveland Clinic Foundation Intensive Review of Internal Medicine. Hagerstwon, MD: Lippincott Williams & Wilkins. pp. 525–35. ISBN 978-0-7817-9079-6.
48. ^ a b Chanson P, Weintraub BD, Harris AG (August 1993). "Octreotide therapy for thyroid-stimulating hormone-secreting pituitary adenomas. A follow-up of 52 patients". Annals of Internal Medicine. 119 (3): 236–40. doi:10.7326/0003-4819-119-3-199308010-00010. PMID 8323093. S2CID 27660512.
49. ^ Drummond, Juliana; Roncaroli, Federico; Grossman, Ashley B; Korbonits, Márta (2019). "Clinical and Pathological Aspects of Silent Pituitary Adenomas". The Journal of Clinical Endocrinology & Metabolism. 104 (7): 2473–2489. doi:10.1210/jc.2018-00688. ISSN 0021-972X. PMC 6517166. PMID 30020466.
\- "This article has been published under the terms of the Creative Commons Attribution License (CC BY; https://creativecommons.org/licenses/by/4.0/)"
50. ^ Fernández-Balsells MM, Murad MH, Barwise A, Gallegos-Orozco JF, Paul A, Lane MA, Lampropulos JF, Natividad I, Perestelo-Pérez L, Ponce de León-Lovatón PG, Erwin PJ, Carey J, Montori VM (April 2011). "Natural history of nonfunctioning pituitary adenomas and incidentalomas: a systematic review and metaanalysis". The Journal of Clinical Endocrinology and Metabolism. 96 (4): 905–12. doi:10.1210/jc.2010-1054. PMID 21474687.
51. ^ Freda PU, Beckers AM, Katznelson L, Molitch ME, Montori VM, Post KD, Vance ML (April 2011). "Pituitary incidentaloma: an endocrine society clinical practice guideline". The Journal of Clinical Endocrinology and Metabolism. 96 (4): 894–904. doi:10.1210/jc.2010-1048. PMC 5393422. PMID 21474686.
52. ^ Thompson LD, Seethala RR, Müller S (March 2012). "Ectopic sphenoid sinus pituitary adenoma (ESSPA) with normal anterior pituitary gland: a clinicopathologic and immunophenotypic study of 32 cases with a comprehensive review of the English literature". Head and Neck Pathology. 6 (1): 75–100. doi:10.1007/s12105-012-0336-9. PMC 3311955. PMID 22430769.
53. ^ Leon Barnes: Pathology and genetics of head and neck tumours; p.100: World Health Organization; (2005) ISBN 92-832-2417-5
54. ^ Weil RJ (December 2002). "Pituitary metastasis". Archives of Neurology. 59 (12): 1962–3. doi:10.1001/archneur.59.12.1962. PMID 12470187.
55. ^ Bret P, Jouvet A, Madarassy G, Guyotat J, Trouillas J (May 2001). "Visceral cancer metastasis to pituitary adenoma: report of two cases". Surgical Neurology. 55 (5): 284–90. doi:10.1016/S0090-3019(01)00447-5. PMID 11516470.
56. ^ Morita A, Meyer FB, Laws ER (July 1998). "Symptomatic pituitary metastases". Journal of Neurosurgery. 89 (1): 69–73. doi:10.3171/jns.1998.89.1.0069. PMID 9647174.
57. ^ Daniel R. Fassett, M.D.; William T. Couldwell, M.D., PhD;Medscape:Metastases to the Pituitary Gland [1]
58. ^ Komninos J, Vlassopoulou V, Protopapa D, Korfias S, Kontogeorgos G, Sakas DE, Thalassinos NC (February 2004). "Tumors metastatic to the pituitary gland: case report and literature review". The Journal of Clinical Endocrinology and Metabolism. 89 (2): 574–80. doi:10.1210/jc.2003-030395. PMID 14764764.
59. ^ Neggers, Sebastian J.C.M.M.; Muhammad, Ammar; van der Lely, Aart Jan (2016). "Pegvisomant Treatment in Acromegaly". Neuroendocrinology. 103 (1): 59–65. doi:10.1159/000381644. PMID 25792221. S2CID 19588354.
60. ^ Transsphenoidal Surgery FAQ Neuroendocrine Clinical Center, Massachusetts General Hospital/Harvard Medical School. Retrieved November 25, 2016
## External links[edit]
* Cancer.gov: pituitary tumors
Classification
D
* ICD-10: D35.2
* ICD-9-CM: 237.0
* ICD-O: M8272/0
* MeSH: D010911
* SNOMED CT: 128664001
External resources
* MedlinePlus: 000704
* eMedicine: neuro/312
* Orphanet: 99408
Wikimedia Commons has media related to Pituitary adenoma.
* v
* t
* e
Pituitary disease
Hyperpituitarism
Anterior
* Acromegaly
* Hyperprolactinaemia
* Pituitary ACTH hypersecretion
Posterior
* SIADH
General
* Nelson's syndrome
* Hypophysitis
Hypopituitarism
Anterior
* Kallmann syndrome
* Growth hormone deficiency
* Hypoprolactinemia
* ACTH deficiency/Secondary adrenal insufficiency
* GnRH insensitivity
* FSH insensitivity
* LH/hCG insensitivity
Posterior
Neurogenic diabetes insipidus
General
* Empty sella syndrome
* Pituitary apoplexy
* Sheehan's syndrome
* Lymphocytic hypophysitis
* Pituitary adenoma
* 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
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* Benign
* Thyroid adenoma
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Adrenal tumor
* Cortex
* Adrenocortical adenoma
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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-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Pituitary adenoma | c0032000 | 29,654 | wikipedia | https://en.wikipedia.org/wiki/Pituitary_adenoma | 2021-01-18T18:41:46 | {"mesh": ["D010911"], "umls": ["C0032000"], "icd-9": ["237.0"], "icd-10": ["D35.2"], "orphanet": ["99408"], "wikidata": ["Q864296"]} |
A rare bone disease characterized by avascular necrosis of a metatarsal head, most commonly involving the second, but also the third or fourth, metatarsal. Patients may present with pain on weight-bearing, swelling, and tenderness. Radiological features include widening of the metatarsophalangeal joint space and flattening of the affected metatarsal head, at later stages metatarsal head sclerosis, cortical thickening, and intra-articular loose bodies. The condition can be bilateral in some cases and shows a significant predilection for females in the second or third decade of life.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Osteochondrosis of the metatarsal bone | None | 29,655 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=564003 | 2021-01-23T18:04:37 | {"synonyms": ["Avascular necrosis of the metatarsal bone", "Freiberg disease", "Freiberg infraction"]} |
A number sign (#) is used with this entry because common variable immune deficiency-7 (CVID7) can be caused by compound heterozygous mutation in the CD21 gene (CR2; 120650) on chromosome 1q32.
For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).
Clinical Features
Thiel et al. (2012) reported a 28-year-old man who presented with persistent myalgias, fever, sore throat, respiratory tract infections, and chronic diarrhea associated with Haemophilus influenza infection. He had a history of recurrent respiratory infections in childhood that resolved after tonsillectomy. Clinical examination as an adult showed splenomegaly. Laboratory studies showed hypogammaglobulinemia affecting mainly IgG; IgA values were slightly reduced and IgM levels were low-normal. Antibodies against recall antigens, such as measles, mumps, and varicella, were normal, and he had antibodies against EBV. The patient was diagnosed with an incipient CVID syndrome. Flow cytometric analysis showed complete absence of CD21 antigen in the patient's B cells. The B cells showed a mature antigen phenotype, but there was a reduction in class-switched memory B cells. Patient B cells showed reduced binding to a C3d (see 120700)-containing immune complex and to EBV compared to control cells, and also showed no costimulatory activity via the B-cell receptor complex. Patient cells showed normal proliferative response and production of immunoglobulin on stimulation with anti-IgM and anti-CD40 (109535), and the patient mounted a normal antibody response to protein vaccination, although his response to pneumococcal polysaccharide vaccination was somewhat impaired.
Molecular Genetics
In a patient with a mild form of combined variable immunodeficiency, Thiel et al. (2012) identified compound heterozygous mutations in the CD21 gene (120650.0002 and 120650.0003). Both mutations caused functionally null alleles, with lack of CD21 expression on the patient's B cells. Together with the demonstrated defects in CD19 (107265) and CD81 (186845), this CD21 deficiency was the third genetic defect affecting the B-cell coreceptor complex in humans. All 3 defects share the features of severely decreased memory B-cell numbers, hypogammaglobulinemia, and recurrent infections.
INHERITANCE \- Autosomal recessive RESPIRATORY \- Respiratory infections, recurrent ABDOMEN Gastrointestinal \- Diarrhea, recurrent IMMUNOLOGY \- Recurrent infections \- Hypogammaglobulinemia LABORATORY ABNORMALITIES \- Deceased IgG \- Decreased IgA \- Low-normal IgM \- Decreased switched memory B cells \- Proper antibody response to protein vaccinations MISCELLANEOUS \- Onset in childhood \- One patient has been reported (last curated July 2012) MOLECULAR BASIS \- Caused by mutation in the complement component receptor 2 gene (CR2, 120650.0002 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| IMMUNODEFICIENCY, COMMON VARIABLE, 7 | c0009447 | 29,656 | omim | https://www.omim.org/entry/614699 | 2019-09-22T15:54:34 | {"doid": ["12177"], "mesh": ["D017074"], "omim": ["614699"], "orphanet": ["1572"]} |
Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Familial hemophagocytic lymphohistiocytosis | c0272199 | 29,657 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=540 | 2021-01-23T18:55:11 | {"gard": ["6589"], "mesh": ["D051359"], "omim": ["267700", "603552", "603553", "608898", "613101"], "umls": ["C0272199"], "icd-10": ["D76.1"], "synonyms": ["Familial HLH"]} |
Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).
Adult-onset Huntington disease, the most common form of this disorder, usually appears in a person's thirties or forties. Early signs and symptoms can include irritability, depression, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many people with Huntington disease develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these movements become more pronounced. Affected individuals may have trouble walking, speaking, and swallowing. People with this disorder also experience changes in personality and a decline in thinking and reasoning abilities. Individuals with the adult-onset form of Huntington disease usually live about 15 to 20 years after signs and symptoms begin.
A less common form of Huntington disease known as the juvenile form begins in childhood or adolescence. It also involves movement problems and mental and emotional changes. Additional signs of the juvenile form include slow movements, clumsiness, frequent falling, rigidity, slurred speech, and drooling. School performance declines as thinking and reasoning abilities become impaired. Seizures occur in 30 percent to 50 percent of children with this condition. Juvenile Huntington disease tends to progress more quickly than the adult-onset form; affected individuals usually live 10 to 15 years after signs and symptoms appear.
## Frequency
Huntington disease affects an estimated 3 to 7 per 100,000 people of European ancestry. The disorder appears to be less common in some other populations, including people of Japanese, Chinese, and African descent.
## Causes
Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unclear, it appears to play an important role in nerve cells (neurons) in the brain.
The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene. In people with Huntington disease, the CAG segment is repeated 36 to more than 120 times. People with 36 to 39 CAG repeats may or may not develop the signs and symptoms of Huntington disease, while people with 40 or more repeats almost always develop the disorder.
An increase in the size of the CAG segment leads to the production of an abnormally long version of the huntingtin protein. The elongated protein is cut into smaller, toxic fragments that bind together and accumulate in neurons, disrupting the normal functions of these cells. The dysfunction and eventual death of neurons in certain areas of the brain underlie the signs and symptoms of Huntington disease.
### Learn more about the gene associated with Huntington disease
* HTT
## Inheritance Pattern
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. In rare cases, an individual with Huntington disease does not have a parent with the disorder.
As the altered HTT gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size. A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. People with the adult-onset form of Huntington disease typically have 40 to 50 CAG repeats in the HTT gene, while people with the juvenile form of the disorder tend to have more than 60 CAG repeats.
Individuals who have 27 to 35 CAG repeats in the HTT gene do not develop Huntington disease, but they are at risk of having children who will develop the disorder. As the gene is passed from parent to child, the size of the CAG trinucleotide repeat may lengthen into the range associated with Huntington disease (36 repeats or more).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Huntington disease | c0020179 | 29,658 | medlineplus | https://medlineplus.gov/genetics/condition/huntington-disease/ | 2021-01-27T08:24:41 | {"gard": ["6677", "10510"], "mesh": ["D006816"], "omim": ["143100"], "synonyms": []} |
Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.
## Epidemiology
Prevalence is most likely below 1 to 9/1 000 000. Disease onset occurs in infancy.
## Clinical description
Dysarthria, nystagmus, muscle weakness and hypotonia are frequent symptoms. Areflexia is associated with a demyelinating peripheral neuropathy. Some patients show episodes of rhabdomyolysis with sustained or episodic elevation of serum creatin kinase. Hypergonadotropic hypogonadism is a frequently associated feature. Muscle pathology consists of extensive neurogenic atrophy and myopathic changes with rimmed vacuoles. Cerebellar cortical atrophy with vacuolated or binuclear Purkinje cells is also observed.
## Etiology
It has been suggested that the MSS with myoglobinuria and congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndromes are genetically identical as they both map to chromosome 18qter. In contrast, a locus for classical MSS has been assigned to chromosome 5q31 and mutations have recently been identified in SIL1, a gene encoding a factor involved in proper protein folding. Loss of SIL1 function results in accumulation of unfolded proteins, harmful to the cell.
## Diagnostic methods
Diagnosis is based on clinical symptoms. Ophthalmologic examination should be performed to detect cataracts and MRI (Magnetic Resonance Imaging) scan allows investigation of cerebellar atrophy particularly involving the vermis. Muscle biopsy findings are generally non-specific.
## Antenatal diagnosis
Prenatal diagnosis with molecular genetic techniques can be performed if a mutation is known in the family.
## Management and treatment
Treatment is symptomatic. Cataracts often require surgical removal to preserve vision. Hormonal replacement therapy may be needed if hypogonadism is present. Physical and occupational therapy are crucial.
## Prognosis
Patients can survive to old age, with varying disability.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Marinesco-Sjögren syndrome | c0024814 | 29,659 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=559 | 2021-01-23T18:08:05 | {"gard": ["8341"], "mesh": ["D013132"], "omim": ["248800"], "umls": ["C0024814"], "icd-10": ["G11.1"]} |
Appearance of distended and engorged superficial epigastric veins
For the cactus, see Astrophytum caput-medusae.
Caput medusae
Other namesPalm tree sign
Axial CT showing portosystemic collateral circulation via the umbilical vein: caput medusae in liver cirrhosis
SpecialtyGastroenterology
Caput medusae is the appearance of distended and engorged superficial epigastric veins, which are seen radiating from the umbilicus across the abdomen. The name caput medusae (Latin for "head of Medusa") originates from the apparent similarity to Medusa's head, which had venomous snakes in place of hair. It is also a sign of portal hypertension.[1] It is caused by dilation of the paraumbilical veins, which carry oxygenated blood from mother to fetus in utero and normally close within one week of birth, becoming re-canalised due to portal hypertension caused by liver failure.
## Contents
* 1 Differential diagnosis
* 1.1 Inferior vena cava obstruction
* 2 See also
* 3 References
* 4 External links
## Differential diagnosis[edit]
### Inferior vena cava obstruction[edit]
* Produces abdominal collateral veins to bypass the blocked inferior vena cava and permit venous return from the legs.
Determine the direction of flow in the veins below the umbilicus. After pushing down on the prominent vein, blood will:
* flow toward the legs → caput medusae
* flow toward the head → inferior vena cava obstruction.
## See also[edit]
* Portacaval anastomosis
## References[edit]
1. ^ Mohammed, Ayad Ahmad (2020-04-24). "Caput medusae sign; a unique finding during abdominal examination in patients with portal hypertension; case report". Annals of Medicine and Surgery. 54: 54–56. doi:10.1016/j.amsu.2020.04.004. ISSN 2049-0801. PMC 7191313. PMID 32373342.
## External links[edit]
Classification
D
* ICD-10: I86.8 (ILDS I86.820)
* ICD-9-CM: 456.8
* v
* t
* e
Cardiovascular disease (vessels)
Arteries, arterioles
and capillaries
Inflammation
* Arteritis
* Aortitis
* Buerger's disease
Peripheral artery disease
Arteriosclerosis
* Atherosclerosis
* Foam cell
* Fatty streak
* Atheroma
* Intermittent claudication
* Critical limb ischemia
* Monckeberg's arteriosclerosis
* Arteriolosclerosis
* Hyaline
* Hyperplastic
* Cholesterol
* LDL
* Oxycholesterol
* Trans fat
Stenosis
* Carotid artery stenosis
* Renal artery stenosis
Other
* Aortoiliac occlusive disease
* Degos disease
* Erythromelalgia
* Fibromuscular dysplasia
* Raynaud's phenomenon
Aneurysm / dissection /
pseudoaneurysm
* torso: Aortic aneurysm
* Abdominal aortic aneurysm
* Thoracic aortic aneurysm
* Aneurysm of sinus of Valsalva
* Aortic dissection
* Aortic rupture
* Coronary artery aneurysm
* head / neck
* Intracranial aneurysm
* Intracranial berry aneurysm
* Carotid artery dissection
* Vertebral artery dissection
* Familial aortic dissection
Vascular malformation
* Arteriovenous fistula
* Arteriovenous malformation
* Telangiectasia
* Hereditary hemorrhagic telangiectasia
Vascular nevus
* Cherry hemangioma
* Halo nevus
* Spider angioma
Veins
Inflammation
* Phlebitis
Venous thrombosis /
Thrombophlebitis
* primarily lower limb
* Deep vein thrombosis
* abdomen
* Hepatic veno-occlusive disease
* Budd–Chiari syndrome
* May–Thurner syndrome
* Portal vein thrombosis
* Renal vein thrombosis
* upper limb / torso
* Mondor's disease
* Paget–Schroetter disease
* head
* Cerebral venous sinus thrombosis
* Post-thrombotic syndrome
Varicose veins
* Gastric varices
* Portacaval anastomosis
* Caput medusae
* Esophageal varices
* Hemorrhoid
* Varicocele
Other
* Chronic venous insufficiency
* Chronic cerebrospinal venous insufficiency
* Superior vena cava syndrome
* Inferior vena cava syndrome
* Venous ulcer
Arteries or veins
* Angiopathy
* Macroangiopathy
* Microangiopathy
* Embolism
* Pulmonary embolism
* Cholesterol embolism
* Paradoxical embolism
* Thrombosis
* Vasculitis
Blood pressure
Hypertension
* Hypertensive heart disease
* Hypertensive emergency
* Hypertensive nephropathy
* Essential hypertension
* Secondary hypertension
* Renovascular hypertension
* Benign hypertension
* Pulmonary hypertension
* Systolic hypertension
* White coat hypertension
Hypotension
* Orthostatic hypotension
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Caput medusae | c0221226 | 29,660 | wikipedia | https://en.wikipedia.org/wiki/Caput_medusae | 2021-01-18T18:43:29 | {"umls": ["C0221226"], "icd-9": ["456.8"], "icd-10": ["I86.8"], "wikidata": ["Q1035226"]} |
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Wunderlich syndrome" – news · newspapers · books · scholar · JSTOR (December 2018) (Learn how and when to remove this template message)
Wunderlich syndrome
Other namesDouble uterus-hemivagina-renal agenesis syndrome[1]
This condition is inherited in an autosomal dominant manner
SpecialtyNephrology
Wunderlich syndrome can refer to one of several conditions. One condition called Wunderlich syndrome is spontaneous, nontraumatic kidney bleeding confined to the subcapsular and perirenal space. It may be the first manifestation of a renal angiomyolipoma (AML), or the rupture of a renal artery or intraparenchymal aneurysm.[2] The renal condition should not be confused with other conditions which are Mullerian duct anomalies, such as Herlyn-Werner-Wunderlich syndrome. Some sources refer to double uters-hemivagina-renal agenesis as simply Wunderlich syndrome, but Herlyn-Werner-Wunderlich is a better term to distinguish the two.
## Contents
* 1 Cause
* 2 Diagnosis
* 3 Treatment
* 4 References
* 5 External links
## Cause[edit]
Neoplasms are the most common underlying pathology in up to 60% of cases and include renal angiomyolipoma and renal cell carcinoma. Other causes include rupture of renal artery or an arteriovenous malformation, polyarteritis nodosa, cystic medial necrosis, segmental arterial mediolysis, and cystic rupture. Few case series suggested angiomyolipoma as the most common cause.[citation needed]
## Diagnosis[edit]
First symptoms may be subtle such as mild pain, flank tenderness, hematuria. Depending on blood loss, symptoms of hypovolemic shock may develop. Hematoma is usually contained in the retroperitoneum, allowing for a period of hemodynamic stability. Sometimes massive acute hemorrhage is seen when a hematoma ruptures Gerota's fascia and extends into the peritoneum. An ultrasound or CT scan can establish diagnosis, while lab tests may be inconclusive as changes of hematocrit or hemoglobin are not specific to the syndrome, while hematuria is not always present.
## Treatment[edit]
Treatment varies according to severity, ranging from monitoring of the hematoma (in hemodynamic stability) to emergency surgery (when patients develop hypovolemic shock requiring seminephrectomy or nephrectomy). Vascular causes lead to surgery due to severity of hemorrhage. Robotic-assisted partial nephrectomy has been proposed as a surgical treatment of a ruptured angiomyolipoma causing retroperitoneal hemorrhage, combining the advantages of a kidney preservation procedure and the benefits of a minimally invasive procedure without compromising the safety of the patient.[3]
## References[edit]
1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Double uterus hemivagina renal agenesis syndrome". www.orpha.net. Retrieved 27 May 2019.
2. ^ Anastasiou, Ioannis; Katafigiotis, Ioannis; Pournaras, Christos; Fragkiadis, Evangelos; Leotsakos, Ioannis; Mitropoulos, Dionysios; Constantinides, Constantinos A. (2013). "A Cough Deteriorating Gross Hematuria: A Clinical Sign of a Forthcoming Life-Threatening Rupture of an Intraparenchymal Aneurysm of Renal Artery (Wunderlichs Syndrome)". Case Reports in Vascular Medicine. 2013: 1–3. doi:10.1155/2013/452317. PMC 3705747. PMID 23864981.
3. ^ Ploumidis A, Katafigiotis I, Thanou M, Bodozoglou N, Athanasiou L, Ploumidis A (2013). "Spontaneous Retroperitoneal Hemorrhage (Wunderlich Syndrome) due to Large Upper Pole Renal Angiomyolipoma: Does Robotic-Assisted Laparoscopic Partial Nephrectomy Have a Role in Primary Treatment?". Case Rep Urol. 2013: 498694. doi:10.1155/2013/498694. PMC 3784227. PMID 24106637.
* Albi G, Campo L, Tagarro D (Sep 2002). "Wünderlich's syndrome: causes, diagnosis and radiological management". Clin Radiol. 57 (9): 840–5. doi:10.1016/s0009-9260(02)90981-5. PMID 12384111.
## External links[edit]
Classification
D
* OMIM: 192050
External resources
* Orphanet: 3411
This article about a disease of the genitourinary system is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Wunderlich syndrome | c4302552 | 29,661 | wikipedia | https://en.wikipedia.org/wiki/Wunderlich_syndrome | 2021-01-18T18:53:11 | {"wikidata": ["Q609944"]} |
Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Ogden syndrome | c3275447 | 29,662 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276432 | 2021-01-23T18:17:21 | {"omim": ["300855"], "synonyms": ["Premature aging appearance-developmental delay-cardiac arrhythmia syndrome"]} |
A congenital, X-linked, clinical subtype of L1 syndrome, characterized by variable spastic paraplegia, mild to moderate intellectual disability, and dysplasia, hypoplasia or aplasia of the corpus callosum. In this subtype hydrocephalus, adducted thumbs, or absent speech are not observed.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| X-linked complicated corpus callosum dysgenesis | c1839909 | 29,663 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1497 | 2021-01-23T19:11:52 | {"gard": ["12526"], "mesh": ["C564115"], "omim": ["304100"], "umls": ["C1839909"], "icd-10": ["Q04.8"]} |
Several repeated DNA sequences have been shown by in situ hybridization to have distinct and consistent chromosomal localization. Although usually not transcribed, they may play an important role in chromosomal organization, structure, and gene regulation, as well as in meiotic chromosome pairing and position in the nucleus. Law et al. (1982) isolated a human repetitive sequence and used it for regional chromosome mapping. By in situ hybridization, Devine et al. (1985) mapped 4 recombinant DNA clones carrying low-repetitive human DNA. One (their H7) mapped to the satellite regions of chromosomes 13, 14, 15, 21, and 22 and the centromere region of chromosome 1. Their H12 hybridized to chromosomes 11 and 17 and the centromere of X. Their H1 and H15 hybridized widely but particularly to the centromere of 19 and 18p, respectively.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| DNA, LOW-REPETITIVE SEQUENCES OF | c1852041 | 29,664 | omim | https://www.omim.org/entry/126390 | 2019-09-22T16:42:12 | {"omim": ["126390"], "synonyms": ["Alternative titles", "REPETITIVE SEQUENCE DNA"]} |
Category of respiratory disease characterized by airway obstruction
Obstructive lung disease
Play media
A video discussing bronchial hyperresponsiveness studies of firefighters involved in rescue efforts after the September 11 attacks
SpecialtyPulmonology
Obstructive lung disease is a category of respiratory disease characterized by airway obstruction. Many obstructive diseases of the lung result from narrowing (obstruction) of the smaller bronchi and larger bronchioles, often because of excessive contraction of the smooth muscle itself. It is generally characterized by inflamed and easily collapsible airways, obstruction to airflow, problems exhaling and frequent medical clinic visits and hospitalizations. Types of obstructive lung disease include; asthma, bronchiectasis, bronchitis and chronic obstructive pulmonary disease (COPD). Although COPD shares similar characteristics with all other obstructive lung diseases, such as the signs of coughing and wheezing, they are distinct conditions in terms of disease onset, frequency of symptoms and reversibility of airway obstruction.[1] Cystic fibrosis is also sometimes included in obstructive pulmonary disease.[2]
## Contents
* 1 Types
* 1.1 Asthma
* 1.2 Bronchiectasis
* 1.3 Chronic obstructive pulmonary disease
* 2 Diagnosis
* 3 See also
* 4 References
* 5 External links
## Types[edit]
### Asthma[edit]
Main article: Asthma
Asthma is an obstructive lung disease where the bronchial tubes (airways) are extra sensitive (hyperresponsive). The airways become inflamed and produce excess mucus and the muscles around the airways tighten making the airways narrower. Asthma is usually triggered by breathing in things in the air such as dust or pollen that produce an allergic reaction. It may be triggered by other things such as an upper respiratory tract infection, cold air, exercise or smoke. Asthma is a common condition and affects over 300 million people around the world.[3] Asthma causes recurring episodes of wheezing, breathlessness, chest tightness, and coughing, particularly at night or in the early morning.[citation needed]
* Exercise-Induced Asthma — is common in asthmatics, especially after participation in outdoor activities in cold weather.
* Occupational Asthma — An estimated 2% to 5% of all asthma episodes may be caused by exposure to a specific sensitizing agent in the workplace.
* Nocturnal Asthma — is a characteristic problem in poorly controlled asthma and is reported by more than two thirds of sub-optimally treated patients.
A peak flow meter can record variations in the severity of asthma over time. Spirometry, a measurement of lung function, can provide an assessment of the severity, reversibility, and variability of airflow limitation, and help confirm the diagnosis of asthma.[3]
### Bronchiectasis[edit]
Main article: Bronchiectasis
Bronchiectasis refers to the abnormal, irreversible dilatation of the bronchi caused by destructive and inflammatory changes in the airway walls. Bronchiectasis has three major anatomical patterns: cylindrical bronchiectasis, varicose bronchiectasis and cystic bronchiectasis.[citation needed]
### Chronic obstructive pulmonary disease[edit]
Main article: Chronic obstructive pulmonary disease
Chronic obstructive pulmonary disease (COPD),[4] also known as chronic obstructive airways disease (COAD) or chronic airflow limitation (CAL), is a group of illnesses characterised by airflow limitation that is not fully reversible. The flow of air into and out of the lungs is impaired.[5] This can be measured with breathing devices such as a peak flow meter or by spirometry. The term COPD includes the conditions emphysema and chronic bronchitis although most patients with COPD have characteristics of both conditions to varying degrees. Asthma being a reversible obstruction of airways is often considered separately, but many COPD patients also have some degree of reversibility in their airways.[citation needed]
In COPD, there is an increase in airway resistance, shown by a decrease in the forced expiratory volume in 1 second (FEV1) measured by spirometry. COPD is defined as a forced expiratory volume in 1 second divided by the forced vital capacity (FEV1/FVC) that is less than 0.7 (or 70%).[6] The residual volume, the volume of air left in the lungs following full expiration, is often increased in COPD, as is the total lung capacity, while the vital capacity remains relatively normal. The increased total lung capacity (hyperinflation) can result in the clinical feature of a "barrel chest" – a chest with a large front-to-back diameter that occurs in some individuals with COPD. Hyperinflation can also be seen on a chest x-ray as a flattening of the diaphragm.[citation needed]
The most common cause of COPD is cigarette smoking. COPD is a gradually progressive condition and usually only develops after about 20 pack-years of smoking. COPD may also be caused by breathing in other particles and gases.[citation needed]
The diagnosis of COPD is established through spirometry although other pulmonary function tests can be helpful. A chest x-ray is often ordered to look for hyperinflation and rule out other lung conditions but the lung damage of COPD is not always visible on a chest x-ray. Emphysema, for example can only be seen on CT scan.
The main form of long term management involves the use of inhaled bronchodilators (specifically beta agonists and anticholinergics) and inhaled corticosteroids. Many patients eventually require oxygen supplementation at home. In severe cases that are difficult to control, chronic treatment with oral corticosteroids may be necessary, although this is fraught with significant side-effects.
COPD is generally irreversible although lung function can partially recover if the patient stops smoking. Smoking cessation is an essential aspect of treatment.[7] Pulmonary rehabilitation programmes involve intensive exercise training combined with education and are effective in improving shortness of breath. Severe emphysema has been treated with lung volume reduction surgery, with some success in carefully chosen cases. Lung transplantation is also performed for severe COPD in carefully chosen cases.[citation needed]
Alpha 1-antitrypsin deficiency is a fairly rare genetic condition that results in COPD (particularly emphysema) due to a lack of the antitrypsin protein which protects the fragile alveolar walls from protease enzymes released by inflammatory processes.[citation needed]
## Diagnosis[edit]
Diagnosis of obstructive disease requires several factors depending on the exact disease being diagnosed. However one commonality between them is an FEV1/FVC ratio less than 0.7, i.e. the inability to exhale 70% of their breath within one second.[citation needed]
Following is an overview of the main obstructive lung diseases. Chronic obstructive pulmonary disease is mainly a combination of chronic bronchitis and emphysema, but may be more or less overlapping with all conditions.[8]
Condition Main site Major changes Causes Symptoms
Chronic bronchitis Bronchus Hyperplasia and hypersecretion of mucus glands Tobacco smoking and air pollutants Productive cough
Bronchiolitis
(subgroup of chronic bronchitis) Bronchiole Inflammatory scarring and bronchiole obliteration Tobacco smoking and air pollutants Cough, dyspnea
Bronchiectasis Bronchus Dilation and scarring of airways Persistent severe infections Cough, purulent sputum and fever
Asthma Bronchus
* Smooth muscle hyperplasia
* Excessive mucus
* Inflammation
* Constriction
Immunologic or idiopathic Episodic wheezing, cough and dyspnea
Unless else specified in boxes then reference is [8]
## See also[edit]
Restrictive lung disease
## References[edit]
1. ^ National Asthma Education and Prevention Program. Clinical Practice Guidelines. Expert Panel Report 2. Guidelines for the Diagnosis and Management of Asthma. Bethesda, Md: National Heart, Lung, and Blood Institute, National Institutes of Health, US Dept of Health and Human Services; 1997. NIH publication 97-4051.
2. ^ Restrepo RD (September 2007). "Inhaled adrenergics and anticholinergics in obstructive lung disease: do they enhance mucociliary clearance?" (PDF). Respir Care. 52 (9): 1159–73, discussion 1173–5. PMID 17716384.
3. ^ a b "GINA – the Global INitiative for Asthma". Retrieved 2008-05-06.
4. ^ A Guide To Understanding Congenital Lobar Emphysema. copd-stages.com; 2014 [cited 19 May 2014].
5. ^ Kleinschmidt, Paul. "Chronic Obstructive Pulmonary Disease and Emphysema". Retrieved 2008-04-19.
6. ^ "GOLD – the Global initiative for chronic Obstructive Lung Disease". Archived from the original on 2011-02-16. Retrieved 2008-05-06.
7. ^ "What is chronic obstructive pulmonary disease (COPD)?". Archived from the original on 2008-06-14. Retrieved 2008-04-19.
8. ^ a b Table 13-2 in: Mitchell, Richard Sheppard; Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson (2007). Robbins Basic Pathology: With STUDENT CONSULT Online Access. Philadelphia: Saunders. ISBN 978-1-4160-2973-1. 8th edition.
## External links[edit]
Classification
D
* MeSH: D008173
* v
* t
* e
Diseases of the respiratory system
Upper RT
(including URTIs,
common cold)
Head
sinuses
Sinusitis
nose
Rhinitis
Vasomotor rhinitis
Atrophic rhinitis
Hay fever
Nasal polyp
Rhinorrhea
nasal septum
Nasal septum deviation
Nasal septum perforation
Nasal septal hematoma
tonsil
Tonsillitis
Adenoid hypertrophy
Peritonsillar abscess
Neck
pharynx
Pharyngitis
Strep throat
Laryngopharyngeal reflux (LPR)
Retropharyngeal abscess
larynx
Croup
Laryngomalacia
Laryngeal cyst
Laryngitis
Laryngopharyngeal reflux (LPR)
Laryngospasm
vocal cords
Laryngopharyngeal reflux (LPR)
Vocal fold nodule
Vocal fold paresis
Vocal cord dysfunction
epiglottis
Epiglottitis
trachea
Tracheitis
Laryngotracheal stenosis
Lower RT/lung disease
(including LRTIs)
Bronchial/
obstructive
acute
Acute bronchitis
chronic
COPD
Chronic bronchitis
Acute exacerbation of COPD)
Asthma (Status asthmaticus
Aspirin-induced
Exercise-induced
Bronchiectasis
Cystic fibrosis
unspecified
Bronchitis
Bronchiolitis
Bronchiolitis obliterans
Diffuse panbronchiolitis
Interstitial/
restrictive
(fibrosis)
External agents/
occupational
lung disease
Pneumoconiosis
Aluminosis
Asbestosis
Baritosis
Bauxite fibrosis
Berylliosis
Caplan's syndrome
Chalicosis
Coalworker's pneumoconiosis
Siderosis
Silicosis
Talcosis
Byssinosis
Hypersensitivity pneumonitis
Bagassosis
Bird fancier's lung
Farmer's lung
Lycoperdonosis
Other
* ARDS
* Combined pulmonary fibrosis and emphysema
* Pulmonary edema
* Löffler's syndrome/Eosinophilic pneumonia
* Respiratory hypersensitivity
* Allergic bronchopulmonary aspergillosis
* Hamman-Rich syndrome
* Idiopathic pulmonary fibrosis
* Sarcoidosis
* Vaping-associated pulmonary injury
Obstructive / Restrictive
Pneumonia/
pneumonitis
By pathogen
* Viral
* Bacterial
* Pneumococcal
* Klebsiella
* Atypical bacterial
* Mycoplasma
* Legionnaires' disease
* Chlamydiae
* Fungal
* Pneumocystis
* Parasitic
* noninfectious
* Chemical/Mendelson's syndrome
* Aspiration/Lipid
By vector/route
* Community-acquired
* Healthcare-associated
* Hospital-acquired
By distribution
* Broncho-
* Lobar
IIP
* UIP
* DIP
* BOOP-COP
* NSIP
* RB
Other
* Atelectasis
* circulatory
* Pulmonary hypertension
* Pulmonary embolism
* Lung abscess
Pleural cavity/
mediastinum
Pleural disease
* Pleuritis/pleurisy
* Pneumothorax/Hemopneumothorax
Pleural effusion
Hemothorax
Hydrothorax
Chylothorax
Empyema/pyothorax
Malignant
Fibrothorax
Mediastinal disease
* Mediastinitis
* Mediastinal emphysema
Other/general
* Respiratory failure
* Influenza
* Common cold
* SARS
* Coronavirus disease 2019
* Idiopathic pulmonary haemosiderosis
* Pulmonary alveolar proteinosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Obstructive lung disease | c0600260 | 29,665 | wikipedia | https://en.wikipedia.org/wiki/Obstructive_lung_disease | 2021-01-18T18:47:13 | {"mesh": ["D008173"], "umls": ["C0600260"], "wikidata": ["Q3508797"]} |
Achondrogenesis
Postmortem anteroposterior (A) and lateral (B) whole-body radiographs of the baby.
SpecialtyMedical genetics
DeathsCommon
Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia (malformation of bones and cartilage). These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of their serious health problems, infants with achondrogenesis are usually born prematurely, are stillborn, or die shortly after birth from respiratory failure. Some infants, however, have lived for a while with intensive medical support.
Researchers have described at least three forms of achondrogenesis, designated as Achondrogenesis type 1A, achondrogenesis type 1B and achondrogenesis type 2. These types are distinguished by their signs and symptoms, inheritance pattern, and genetic cause. Other types of achondrogenesis may exist, but they have not been characterized or their cause is unknown.
Achondrogenesis type 1A is caused by a defect in the microtubules of the Golgi apparatus. In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in defects similar to the human disease. When their DNA was sequenced, human patients with achondrogenesis type 1A also had loss-of-function mutations in GMAP-210. GMAP-210 moves proteins from the endoplasmic reticulum to the Golgi apparatus. Because of the defect, GMAP-210 is not able to move the proteins, and they remain in the endoplasmic reticulum, which swells up. The loss of Golgi apparatus function affects some cells, such as those responsible for forming bone and cartilage, more than others.[1]
Achondrogenesis type 1B is caused by a similar mutation in SLC26A2, which encodes a sulfate transporter.
Achondrogenesis, type 2 is one of several skeletal disorders caused by mutations in the COL2A1 gene. Achondrogenesis, type 2 and hypochondrogenesis (a similar skeletal disorder) together affect 1 in 40,000 to 60,000 births.
## References[edit]
1. ^ Lethal skeletal dysplasia in mice and humans lacking the GolginGMAP-210, Patrick Smits et al., N Engl J Med, 362:206, Jan. 21, 2010
This article incorporates public domain text from The U.S. National Library of Medicine
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Classification
D
* ICD-10: Q77.0
* OMIM: 600972 200610 200600
* MeSH: C579878
* DiseasesDB: 33350
External resources
* MedlinePlus: 001247
Wikimedia Commons has media related to Achondrogenesis.
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Osteochondrodysplasia
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*[lit.]: literal translation
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*[No.]: Number
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*[GABAAR]: GABAA receptor
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*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
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| Achondrogenesis | c0001079 | 29,666 | wikipedia | https://en.wikipedia.org/wiki/Achondrogenesis | 2021-01-18T19:00:19 | {"gard": ["2882"], "mesh": ["C579878"], "umls": ["C0001079"], "icd-10": ["Q77.0"], "orphanet": ["932"], "wikidata": ["Q2823145"]} |
A number sign (#) is used with this entry because myotonic dystrophy-1 (DM1) is caused by a heterozygous trinucleotide repeat expansion (CTG)n in the 3-prime untranslated region of the dystrophia myotonica protein kinase gene (DMPK; 605377) on chromosome 19q13.
A repeat length exceeding 50 CTG repeats is pathogenic (Musova et al., 2009).
Description
Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009).
### Genetic Heterogeneity of Myotonic Dystrophy
See also myotonic dystrophy-2 (DM2; 602668), which is caused by mutation in the ZNF9 gene (116955) on chromosome 3q21.
Clinical Features
### ADULT-ONSET MYOTONIC DYSTROPHY
In adult-onset DM1, symptoms typically become evident in middle life, but signs can be detectable in the second decade. Bundey et al. (1970) found that the most useful method for identifying subclinical cases is slit-lamp examination for lens changes, followed by electromyography for myotonic discharges, and then by measurement of immunoglobulins.
Harper (1989) provided a monograph on myotonic dystrophy that has been updated regularly.
Unlike the other muscular dystrophies, DM initially involves the distal muscles of the extremities and only later affects the proximal musculature. In addition, there is early involvement of the muscles of the head and neck. Involvement of the extraocular muscles produces ptosis, weakness of eyelid closure, and limitation of extraocular movements. Atrophy of masseters, sternocleidomastoids, and the temporalis muscle produces a characteristic haggard appearance. Bosma and Brodie (1969) demonstrated both myotonia and weakness in patients with swallowing and speech disability. Myotonia, delayed muscular relaxation following contraction, is most frequently apparent in the tongue, forearm, and hand. Myotonia is rarely as severe as in myotonia congenita and tends to be less apparent as weakness progresses.
Many of the muscle biopsy changes are nonspecific. Most commonly there are central nuclei and ring fibers. Necrosis, regeneration, and increase of collagen are never as severe as in Duchenne muscular dystrophy. In 70% of patients there is hypotrophy of type I muscle fibers; less commonly there are markedly atrophic fibers (Casanova and Jerusalem, 1979). In many cases there are target fibers, suggesting neurogenic dysfunction, but intramuscular nerves appear histologically normal (Drachman and Fambrough, 1976). Ultrastructural studies show dilatation of T tubules or sarcoplasmic reticulum, whose contents may be unusually dense (Milhaud et al., 1964). In some cases the surface membrane may be irregular, with reduplication of basal lamina.
### Neurologic Features
From a series of neurophysiologic investigations of 24 patients with myotonic dystrophy, Jamal et al. (1986) concluded that there was unequivocal evidence of widespread nervous system dysfunction. In many patients there was significant involvement of peripheral large diameter motor and sensory fibers and of small diameter sensory fibers peripherally and/or centrally. The authors stated that 'the concept of myotonic dystrophy as a pure myopathy can no longer be sustained.' This conclusion is supported by the findings in the family reported by Spaans et al. (1986). Thirteen members of a large family presented with a hereditary motor and sensory neuropathy in a dominant pedigree pattern. The mean motor conduction velocities for the median and peroneal nerves in the affected individuals were 62% and 56%, respectively, of those of the unaffected relatives. Eight of the 13 affected members also showed more or less prominent signs of myotonic dystrophy. There was no case of myotonic dystrophy alone.
Turnpenny et al. (1994) found that IQ in myotonic dystrophy declined as the age of onset of signs and symptoms decreased and as the size of the CTG expansion increased. The correlation appeared to be more linear with age of onset. Censori et al. (1994) carried out a prospective case-control study of 25 patients with myotonic dystrophy using magnetic resonance imaging (MRI) of the brain. They found that 84% of myotonic dystrophy patients showed white matter hyperintense lesions, compared with 16% of controls. Most of these lesions involved all cerebral lobes without hemispheric prevalence, but 28% of the myotonic dystrophy patients also showed particular white matter hyperintense lesions at their temporal poles. Myotonic patients also showed significantly more cortical atrophy than did controls. However, there was no relationship between atrophy or white matter hyperintense lesions and age, disease duration, or neuropsychologic impairment. Damian et al. (1994) found that amplification of the CTG repeat in leukocytes strongly correlated with cognitive test deficits when the expansion length exceeded over 1,000 trinucleotides. MRI lesions were associated with impaired psychometric performance, but the MRI findings of subcortical white matter lesions correlated only very weakly with the molecular findings.
Miaux et al. (1997) found that 9 (70%) of 13 patients with a mild form of adult myotonic dystrophy had T2-weighted signal abnormalities on brain MRI. Four patients (30%) had lesions greater than 1 cm in diameter. Lesions were symmetric, occurred in the subcortical white matter, and showed a predilection for the temporal lobe. There was some evidence of cerebral atrophy in the patients overall but no difference in IQ between patients and controls. There was no correlation between number of pathologic CTG repeats and white matter lesions, and there was no correlation between intellectual impairment and white matter lesions, except in 1 patient who had a difficult birth and temporal lobe epilepsy. Three patients had marked thickening of the skull, which was associated with ossification of the falx in 2.
Donahue et al. (2009) reported a 56-year-old woman with a 10-year history of myotonic dystrophy who presented with progressive lower extremity weakness. Brain MRI showed multiple discrete and confluent areas of abnormal signal intensity throughout the subcortical white matter with predominant involvement of the frontal and anterior temporal lobes. There was also diffuse thickening of the skull with ossification of the falx. Donahue et al. (2009) noted the similarity of the white matter findings with those observed in CADASIL (125310), but noted that skull abnormalities are not seen in CADASIL.
In a study of 21 patients with myotonic dystrophy, Akiguchi et al. (1999) found that MRI results indicated progressive brain atrophy. Magnetic resonance spectroscopy demonstrated a significant reduction of the neuronal marker N-acetylaspartate, even in young patients in whom imaging studies were still equivocal.
Delaporte (1998) found that 15 DM patients with no or minimal muscle weakness demonstrated a homogeneous personality profile characterized by avoidant, obsessive-compulsive, passive-aggressive, and schizotypic traits. Fourteen healthy control individuals and 12 patients with a mild form of muscle disease did not show the same trait homogeneity. Delaporte (1998) concluded that the personality disorders were not attributable to the adjustment to a disabling condition, but rather were primary manifestations of the genetic mutation.
Modoni et al. (2004) performed detailed neuropsychologic testing of 70 patients with DM1, including 10 with congenital onset and 60 with juvenile-adult onset, who were subdivided into 4 genotypic subgroups according to number of repeat expansion. Patients with congenital onset (CTG repeats greater than 1,000) obtained the lowest scores in verbal attainment, frontal and executive functions, and general intelligence, consistent with mental retardation. Patients with 50 to 150 repeats showed age-dependent impairment in memory, frontal lobe, and temporal lobe function. Patients with 151 to 1,000 repeats showed defects only in frontal and executive tasks. Although there was a correlation between number of repeats and degree of muscle involvement for all patients, there was not a significant correlation between number of repeats and cognitive impairment, except for the congenital group.
Sergeant et al. (2001) stated that neurofibrillary tangles (NFT), as described in patients with Alzheimer disease (AD; 104300), had been described in the neocortex and subcortical regions of patients with DM1. NFTs derive from pathologic aggregation of hyperphosphorylated tau (MAPT; 157140) proteins. By neuropathologic examination, Sergeant et al. (2001) identified hippocampal NFTs in 4 of 5 patients with DM1 ranging in age from 42 to 64 years. Three patients had clinical evidence of cognitive impairment or mental retardation. In some of the patients, other brain regions also had NFTs. Biochemical characterization showed overexpression of tau protein isoforms lacking exons 2 and 3, suggesting that the DMPK mutation disrupts normal MAPT isoform expression and alters the maturation of MAPT pre-mRNA. Maurage et al. (2005) identified biochemically similar NFTs in multiple brain regions of a patient with DM2; however, the patient with DM2 was mentally normal, demonstrated no cognitive decline, and died at age 71 years from a bilateral renal thrombosis.
### Cardiac Features
Hawley et al. (1983) suggested that the tendency to have heart block or arrhythmia with myotonic dystrophy is a familial characteristic. The implication was that there may be 2 forms of myotonic dystrophy. They studied 18 families and found heart block in 4.
In a single large kindred, Tokgozoglu et al. (1995) compared the cardiac findings in 25 patients with myotonic dystrophy with age-matched normal family members. They found that the patients were more likely to have conduction abnormality (52% vs 9%), mitral valve prolapse (32% vs 9%), and wall motion abnormality (25% vs 0%). Left ventricular ejection fractions and stroke volume were reduced compared with normals. Using multivariate analysis, the number of CTG repeats (range, 69 to 1367; normal, less than 38) was the strongest predictor of abnormalities in wall motion and EKG conduction. Patients with more extensive neurologic findings had a higher incidence of wall motion and/or EKG conduction abnormalities. The authors also found that the relation of mitral valve prolapse to the size of the CTG repeat was of borderline significance.
Cardiac involvement is well described in adults with myotonic dystrophy. Bu'Lock et al. (1999) undertook detailed cardiac assessment in 12 children and young adults with congenital myotonic dystrophy using control data from 137 healthy children and young adults. All patients were in sinus rhythm with a normal P wave axis. Three had first-degree heart block and 4 had a borderline P-R interval (200 ms). Four others had more complex conduction abnormalities. Three patients had mitral valve prolapse. Eleven of the 12 patients had abnormalities of 1 or more parameter of left ventricular diastolic filling. None of these patients were symptomatic. The authors commented that the prognostic implications of these findings were unclear; however, they concluded that echocardiographic assessment of left ventricular diastolic function may be a useful adjunct to electrocardiographic monitoring of patients with congenital myotonic dystrophy.
Antonini et al. (2000) performed a prospective study of 50 DM1 patients without known cardiac disease at the time of enrollment. Nineteen patients developed major cardiac abnormalities during the 56-month study. No correlation was found between CTG length and frequency of EKG abnormality or type of arrhythmia. CTG length was inversely correlated with age at onset of EKG abnormality.
Bassez et al. (2004) reported 11 DM1 patients under the age of 18 years who had severe cardiac involvement. Two patients died suddenly, 1 patient had cardiac arrest with successful resuscitation, and 1 asymptomatic 13-year-old girl presented with recurrent presyncope. Rhythm disturbances included atrial flutter in 4, ventricular tachycardia in 4, and atrial fibrillation in 1. Five patients had atrioventricular block necessitating pacemaker implantation. Six of 11 patients (55%) experienced arrhythmic events with vigorous exercise. Genetic analysis detected between 235 and 1,200 CTG repeats in all patients. No cardiac involvement was detected before age 10 years. Bassez et al. (2004) concluded that patients with congenital or childhood forms of DM1 may present with cardiac abnormalities and that exercise testing is a necessary evaluation in these patients.
Groh et al. (2008) found that 96 of 406 patients with genetically confirmed DM1 had severe ECG abnormalities, and that these patients were older, had more CTG repeats, and had more severe muscular impairment compared to those without ECG abnormalities. After a mean follow-up period of 5.7 years, 69 patients who did not have ECG abnormalities at the start of the study had developed ECG abnormalities and 81 patients died. There were 27 sudden deaths, 32 deaths from progressive neuromuscular respiratory failure, 5 nonsudden deaths from cardiac causes, and 17 deaths from other causes. The major cause of death in the cohort was respiratory failure associated with progressive muscular weakness. A severe ECG abnormality and a clinical diagnosis of atrial tachyarrhythmia conferred relative risks for sudden death of 3.30 and 5.18, respectively.
### CONGENITAL MYOTONIC DYSTROPHY
Harper (1975) observed that in a small proportion of cases, myotonic dystrophy may be congenital with neonatal hypotonia, motor and mental retardation, and facial diplegia. With rare exception, it is the mother who transmits the disease. Diagnosis can be difficult if the family history is not known because muscle wasting may not be apparent, and cataracts and clinical myotonia are absent, although the latter is sometimes detectable by electromyography. Fried et al. (1975) observed that infants with neonatal myotonic dystrophy (almost always the mother is affected) have thin ribs. Talipes at birth, together with hydramnios and reduced fetal movements during pregnancy, is frequent. Respiratory difficulties are frequent and are often fatal. Those that survive the neonatal period initially follow a static course, eventually learning to walk but with significant mental retardation in 60 to 70% of cases. By age 10 they develop myotonia and in adulthood develop the additional complications described for the adult-onset disease. Roig et al. (1994) reported long-term follow-up of 18 patients diagnosed with congenital myotonic dystrophy. Three of the 18 had died, and 5 were lost to follow-up. The remaining 10 had IQs of less than 65. Universal findings were language delay, hypotonia, and delayed motor development. There was no difficulty with routine immunizations nor were there anesthetic complications observed in any of the 7 patients who underwent surgery.
Rudnik-Schoneborn et al. (1998) reviewed the obstetric histories of 26 women with myotonic dystrophy who had a total of 67 gestations, comparing gestations with affected and unaffected fetuses. Of the 56 infants carried to term, 29 had or most likely had inherited the gene for DM from their affected mothers; 18 of the 29 (61%) were affected by the congenital form of DM. Perinatal loss rate was 11% and associated with congenital DM. Preterm labor was a major problem in gestations with DM-fetuses (55 vs 20%), as was polyhydramnios (21% vs none). While forceps deliveries or vacuum extractions were required in 21% of deliveries with DM-fetuses and only 5% of unaffected fetuses, the frequency of cesarean sections were similar in the 2 groups. Obstetric problems were inversely correlated with age at onset of maternal DM, while no effect of age at delivery or birth order on gestational outcome was seen.
Stratton and Patterson (1993) established the molecular diagnosis of myotonic dystrophy in a fetus shown to have bilateral effusions and scalp and upper torso edema by ultrasound examination at 30 weeks' gestation. Polyhydramnios was also present. Thus, nonimmune hydrops fetalis is a manifestation of congenital myotonic dystrophy. The mother had previously unsuspected myotonic dystrophy, but she did show grasp myotonia. Her brother had a confirmed diagnosis. The DM gene showed marked expansion in her fetus. Stratton and Patterson (1993) found reports of 15 other cases of nonimmune hydrops fetalis associated with congenital myotonic dystrophy. (Robin et al. (1994) described nonimmune hydrops fetalis in association with severely impaired fetal movement, giving support to the notion that fetal hypomobility is a cause of this disorder. The hydropic infant stopped moving 8 weeks before delivery and did not move postnatally. Autopsy revealed extensive CNS destruction of unknown cause.)
Other Features
Diabetes mellitus occurs in 5% of cases, frequently with hypersecretion of insulin (Barbosa et al., 1974). There is impaired responsiveness to follicle stimulating hormone with hypogonadism (Sagel et al., 1975), often impairment of adrenal androgens, and occasional thyroid dysfunction, but pituitary function is usually intact (Lee and Hughes, 1964). Di Chiro and Caughey (1960) reviewed radiographic findings in the skull in 18 cases. In 17, 'hyperostotic' changes in the vault were found, the sex distribution being equal. In 8 cases with hypogonadism, the hyperostosis was most advanced.
Excessive catabolism of IgG contributes to low circulating levels of IgG (Wochner et al., 1966).
Schwindt et al. (1969) claimed that 25 to 50% of patients have abdominal symptoms due to cholelithiasis. Brunner et al. (1992) described 4 DM patients with recurrent intestinal pseudoobstruction. In 1 patient it preceded significant muscle weakness by 15 years. Conservative measures usually were effective. Improved intestinal function was noted in 1 patient treated with the prokinetic agent cisapride. A partial sigmoid resection was performed in 3 patients with dolichomegacolon. Two of the patients were sibs. Brunner et al. (1992) pointed out that there are many reports of familial occurrence of specific complications of DM: cardiac conduction disturbances, focal myocarditis, mitral valve prolapse, pilomatrixomas, polyneuropathy, normal pressure hydrocephalus, and dilatation of the urinary tract. Familial idiopathic intestinal pseudoobstruction occurs as an intestinal myopathy (155310) or in a neuronal form (243180); it occurs also in Duchenne muscular dystrophy (310200).
Ciafaloni et al. (2008) found that 17 of 38 patients with DM1 reported excessive daytime sleepiness. Thirteen of these 17 patients underwent sleep studies, and 7 of them showed reduced sleep latency, sleep-onset REM, or both. However, CSF levels of hypocretin (HCRT; 602358), which is implicated in the pathogenesis of narcolepsy (161400), were normal in all 38 DM1 patients.
Biochemical Features
In the cytoplasm of cultured skin fibroblasts Swift and Finegold (1969) found an abnormally large amount of material with the staining properties of acid mucopolysaccharides. Because of the similarity of platelet actomyosin ('thrombosthenin') to that of muscle, Bousser et al. (1975) studied platelets in myotonic dystrophy. Although they found a normal pattern of aggregation in response to adenosine diphosphate and collagen, aggregation occurred with exceedingly low levels of adrenalin. A growing body of evidence was interpreted as indicating a generalized defect of cell membranes in myotonic dystrophy (Butterfield et al., 1974; Roses et al., 1975).
Using antisera developed against synthetic DM-PK peptide antigens for biochemical and histochemical studies, van der Ven et al. (1993) found lower levels of immunoreactive DM-kinase protein of 53 kD in skeletal and cardiac muscle extracts of DM patients than in normal controls. Immunohistochemical staining revealed that DM-PK is localized predominantly at sites of neuromuscular and myotendinous junctions of human and rodent skeletal muscles. The protein could also be demonstrated in the neuromuscular junctions of muscular tissues of adult and congenital cases of DM, with no gross changes in structural organization.
By quantitative RT-PCR and by radioimmunoassay using antisera developed against both synthetic peptides and purified myotonin-protein kinase (Mt-PK) protein expressed in E. coli, Fu et al. (1993) demonstrated that decreased levels of the mRNA and protein expression are associated with the adult form of myotonic dystrophy. From this they suggested that the autosomal dominant nature of the disease is due to an Mt-PK dosage deficiency and that means of elevating Mt-PK level or activity should be explored for therapeutic intervention in adult patients.
Inheritance
This disorder segregates as an autosomal dominant with greatly variable penetrance. Many obligatory gene carriers are asymptomatic. With only rare exception, it is the mother who transmits the disease in cases of congenital myotonic dystrophy. Patients born of affected mothers are more severely affected than those born of affected fathers (Harper and Dyken, 1972). In Japan, Tanaka et al. (1981) also noted the maternal effect in age of onset and severity, and thought that a chemical factor, deoxycholic acid, is responsible for the effect.
Ott et al. (1990) described DNA marker-based genetic counseling in a family with an affected mother and 3 children, each by a different partner. Two of the children were affected. In the third child, myotonic dystrophy could be excluded in the presymptomatic period. In genetic counseling, the recommended risk estimate that any heterozygous woman with myotonic dystrophy will have a congenitally affected child is 3 to 9%. However, after having such an offspring, a DM mother's risk increases to 20 to 37% (Koch et al., 1991). Koch et al. (1991) concluded that the clinical status of the mother at the time of pregnancy and delivery had an important influence on the outcome in the infant. Only women with multisystem effects of the disorder had a congenitally affected child. No heterozygous woman with polychromatic lens changes as the only finding had a congenitally affected child. For classically affected women with systemic manifestations, risk figures that approach the occurrence risk given to mothers with previously born congenitally affected children seemed appropriate. The findings of this study supported the earlier proposal that maternal metabolites acting on a heterozygous offspring account for the congenital involvement. Neither genomic imprinting nor mitochondrial inheritance could explain the correlation between the clinical status of heterozygous mothers and that of their children.
Contrary to the findings and conclusions of Koch et al. (1991), Goodship et al. (1992) described a family in which a 53-year-old woman had no symptoms of myotonic dystrophy, a normal electromyogram, and only dot polychromatic lens opacities on slit-lamp examination. She had, however, given birth 30 years before to a child with congenital myotonic dystrophy. Furthermore, she had a son and daughter with adult onset of symptoms of myotonic dystrophy and another daughter who after normal developmental milestones had early adult onset of symptoms and who gave birth to an offspring with congenital myotonic dystrophy.
Ives et al. (1989) described possible homozygosity for the DM gene. The possible homozygotes were more severely affected than heterozygotes. For a variety of reasons the authors had found it difficult to obtain molecular proof of homozygosity. On the other hand, Cobo et al. (1993) studied a consanguineous French Canadian family in which 2 sisters were homozygous for the 'at risk' haplotype but were asymptomatic and showed no evidence of DM on extensive clinical examination. Both sisters possessed 2 alleles with repeat sizes normally seen in minimally affected patients. Both parents were affected. Martorell et al. (1996) described 3 unrelated homozygous myotonic dystrophy patients. One patient had the classic form of myotonic dystrophy and the other 2 were mildly affected. A remarkable feature was the mildness of the phenotype in the homozygous patients; one, for example, had late-onset cataract as the only manifestation. With the observations of Cobo et al. (1993), this led Zlotogora (1997) to conclude that in myotonic dystrophy, homozygotes do not differ from heterozygotes and that, like Huntington disease (HD; 143100), DM is a 'true dominant.'
Zuhlke et al. (2007) reported 2 additional unrelated cases of homozygous myotonic dystrophy, both products of incestuous unions. Both patients had a severe, congenital phenotype and expanded alleles (330/770 repeats in one patient and 200/1,200 repeats in the other).
On the possibility that mitochondrial genetic modifying factors might be responsible for DM, Thyagarajan et al. (1991) completely sequenced the mitochondrial genome in 2 patients with congenital DM. Comparison of the 2 sequences with control data failed to reveal any specific nucleotide or length variant. After isolation of the gene mutant in myotonic dystrophy and identification of its gene product as a serine-threonine kinase, Jansen et al. (1993) tested for evidence of imprinting of either the paternal or the maternal alleles in both human and mouse tissues. No evidence of imprinting was found involving the expression of the DM kinase gene.
Jansen et al. (1994) used the term gonosomal mosaicism to refer to combined somatic and germline mosaicism which they demonstrated in DM. Studies of variation in the (CTG)n repeat in sperm and body cells of the same individual were demonstrated. The rather frequent observation of offspring with triplet repeat length larger than that found in sperm suggested that intergenerational length changes in the unstable (CTG)n repeat occur during early embryonic mitotic divisions. The initial size of the (CTG)n repeat, the overall number of cell divisions involved in tissue formation, and a specific selection process in spermatogenesis may all influence variation in repeat size.
Carey et al. (1994) examined meiotic drive and segregation distortion at the DM locus. The study was undertaken because the haplotype analysis of DM chromosomes had detected a very limited pool of founder chromosomes (Harley et al., 1992; Mahadevan et al., 1992), raising the question of how a disease that usually decreases reproductive fitness within a few generations has been maintained in the population over hundreds of generations. Carey et al. (1994) found that healthy individuals heterozygous for DM alleles in the normal size range preferentially passed on alleles of more than 19 CTG repeats to their offspring. They suggested that this phenomenon may act to replenish a reservoir of potential DM mutations and that this distortion of the transmission ratio may offer an example of meiotic drive in humans. This segregation distortion may act as a mechanism to maintain alleles in the population that lie at the larger end of the normal range in the trinucleotide repeat disorders. It was unclear whether the segregation distortion was a direct consequence of the CTG repeat number or whether the preferential transmission of the larger allele was due to linkage to segregation distorting loci on the same chromosome.
Martorell et al. (2001) studied the frequency and germline stability of DMPK (605377) alleles in an effort to understand the constant population incidence of the disease despite its low reproductive fitness. The authors analyzed the DMPK CTG repeat length in more than 3,500 individuals from 700 Spanish families. A trimodal distribution of CTG repeat lengths in the normal population was observed: 5 repeats, 9-18 repeats, and 19-37 repeats. Five-repeat alleles and 9- to 18-repeat alleles were stably inherited. The third mode, 19-37 repeats, was skewed toward increasing allele length with frequent de novo expansions. The authors also analyzed alleles with repeat lengths of 38-54 repeats, or 'premutation' alleles. Individuals with premutation alleles were asymptomatic. Premutation alleles were found to be very unstable and liable to frequent large expansions in the male germline, with expansion observed in 25 of 25 transmissions. Sperm from a premutation carrier demonstrated a range of diverse alleles positively skewed toward expansion. Martorell et al. (2001) concluded that the incidence of DM1 is likely maintained in the population by expansion of alleles within the normal range to the premutation range and subsequently into the disease-manifesting range in successive generations.
Leeflang et al. (1996) directly analyzed meiotic segregation and the question of meiotic drive at the DM locus using single-sperm typing. They studied samples of single sperm from 3 individuals heterozygous at the DM locus, each with one allele larger and one allele smaller than the 19 CTG repeats. To guard against the possible problem of differential PCR amplification rates based on the lengths of the alleles, the sperm were also typed at another closely linked marker whose allele size was unrelated to the allele size of the DM locus: D19S207 in 2 donors and D19S112 in the third. Using statistical models specifically designed to study single-sperm segregation data, they found no evidence of meiotic segregation distortion. This suggested to Leeflang et al. (1996) that any greater amount of segregation distortion at the DM locus must result from events following sperm ejaculation.
Magee and Hughes (1998) studied 44 sibships with myotonic dystrophy. When the transmitting parent was male, 58.3% of the offspring were affected, and when the transmitting parent was female, 68.7% were affected. Overall, the DM expansion was transmitted in 63% of cases. Magee and Hughes (1998) concluded that DM expansion tends to be transmitted preferentially.
Nakagawa et al. (1994) described 2 sisters with congenital myotonic dystrophy born to a normal mother and an affected father. The sisters had symptoms from birth. The age of onset of DM in the father was 39 years. Analysis of the CTG trinucleotide expansion in this family showed increase in the repeat length with increasing severity, with the smallest expansion in the grandfather and the largest expansion in the younger of the 2 affected sisters. The observation refutes the hypothesis that congenital DM is exclusively of maternal origin.
Bergoffen et al. (1994) observed inheritance from a mildly affected father. This family illustrated that the congenital form can occur without intrauterine or other maternal factors operating. Nakagawa et al. (1993) also reported a case of congenital myotonic dystrophy inherited from the father. De Die-Smulders et al. (1997) reported a further case of congenital myotonic dystrophy inherited from the father. The patient was a 23-year-old, mentally retarded male suffering from severe muscular weakness who presented with respiratory and feeding difficulties at birth. His 2 sibs suffered from childhood-onset DM, whereas their father had adult onset of DM at around 30 years of age. De Die-Smulders et al. (1997) reviewed 6 other cases of paternal transmission of congenital DM and found that the fathers of these children showed, on average, shorter CTG repeats and hence less severe clinical symptoms than the mothers of children with congenital DM. The authors concluded that paternal transmission of congenital DM preferentially occurs with onset of DM past 30 years of age in the father.
Zunz et al. (2004) examined whether myotonic dystrophy exhibits the phenomenon of preferential transmission of the larger mutated alleles that had been described in other trinucleotide repeat disorders. They cited several reports (e.g., Carey et al., 1994; Leeflang et al., 1996; Magee and Hughes, 1998) indicating that the frequency of transmission of the mutated alleles is higher than 50%, a finding contrary to mendelian laws of segregation. However, these studies were based on data from the analysis of pedigrees with ascertainment bias. Zunz et al. (2004) determined the frequency of transmission of mutated alleles using data from prenatal molecular studies, which were not subject to ascertainment bias. Eighty-three fetuses were examined. Thirty of 62 mothers (48.38%) and 8 of 21 fathers (38.09%) transmitted the mutated allele, giving an overall transmission rate of 45.78%. Zunz et al. (2004) found no evidence of statistically significant deviation of the frequency of transmission of the mutated alleles from the 50% expected in autosomal dominant disorders. Unlike previous studies, the study of Zunz et al. (2004) excluded preferential transmission in myotonic dystrophy, a finding they concluded might be attributable to the lack of correction for ascertainment bias in previous studies and to the use of prenatal data in their study.
Zeesman et al. (2002) reported a child with congenital DM and 1,800 CTG repeats born to an asymptomatic father with 65 repeats and compared the case to 4 previously reported cases. They noted that polyhydramnios was present in most cases and that all fathers whose status was known had small repeat sizes and/or were asymptomatic at the time of their child's birth.
In a study of mitochondrial DNA from 35 patients with congenital myotonic dystrophy, Poulton et al. (1995) could find no evidence that mutations in mtDNA are involved in the pathogenesis of congenital myotonic dystrophy. Associated mitochondrial mutations might help account for the maternal inheritance pattern and the early onset of the congenital form.
Mapping
The linkage of secretor (Se; 182100) and myotonic dystrophy was suspected by Mohr (1954) when he was doing the studies that demonstrated the first autosomal linkage in humans, that between secretor and Lutheran blood group (Lu; 111200). Mohr (1954) failed to establish fully the DM linkage because of the relative insensitivity of the sib-pair method of linkage analysis he was using (Smith, 1986). Renwick et al. (1971) confirmed the linkage. The Lu-Se-DM linkage group and the Km (Inv)-Jk-Co linkage group were tentatively tied together by a family with myotonic dystrophy reported by Larsen et al. (1979, 1980). From study of a single large kindred, Larsen et al. (1979) suggested that Km and Jk are linked to myotonic dystrophy. An order of Km, Jk, Lu, Se, and DM was suggested. No recombination in 7 informative meioses occurred between Km and Jk, none in 5 between Se and DM, 3 out of 10 between Jk and Se, and 3 in 12 between Jk and DM.
Eiberg et al. (1981, 1983) concluded that C3 (120700), Le (111100), myotonic dystrophy, secretor, and Lutheran are linked. Since fibroblast C3 had been assigned to chromosome 19, the finding indicated that myotonic dystrophy is on chromosome 19, providing serum C3 (polymorphism of which was used in the above linkage studies) is under the same genetic control (or at least syntenic genetic control) as fibroblast C3.
Cook (1981) had found positive lod scores for serum C3 and peptidase D (613230), a chromosome 19 locus. Linkage of peptidase D to myotonic dystrophy (O'Brien et al., 1983) proved the assignment of the Lutheran-secretor linkage group to chromosome 19 and provided regional assignment. Using an RFLP related to a C3 probe, Davies et al. (1983) found evidence of linkage with myotonic dystrophy. Laberge et al. (1985) found a lod score of 4.574 at a recombination fraction of 0.12 for linkage of DM and APOE (107741) in French Canadians (males and females combined). Meredith et al. (1985) found close linkage (maximum lod = 7.8 at 4% recombination) of DM to APOC2 (608083). APOE and APOC2 are known to be closely linked.
Brook et al. (1985) concluded that the DM locus is probably in the 19p13.2-19cen segment. Friedrich et al. (1987) quoted studies of somatic cell hybrids carrying various fragments of chromosome 19 that provide unambiguous proof for location of the PEPD gene on 19q, thus corroborating the assignment of DM to that region. The hereditary motor and sensory neuropathy in the family described by Jamal et al. (1986) showed segregation with genetic markers known to be linked to myotonic dystrophy on chromosome 19. Spaans et al. (1986) raised the question of whether the disorder might be caused by an allele of the 'common' DM gene or alternatively by 2 closely linked genes on chromosome 19.
Shaw et al. (1986) reviewed gene mapping of chromosome 19 with particular reference to myotonic dystrophy. Suppression of recombination near the centromere and the large male-female differences in recombination are 'complications' of linkage mapping of the DM locus and use of linkage markers in genetic counseling. Shaw et al. (1986) concluded from linkage studies that myotonic dystrophy is located in the region of the centromere of chromosome 19.
Roses et al. (1986) described RFLPs at the D19S19 locus, which is linked to DM (maximum lod = 11.04 at theta = 0.0). Bartlett et al. (1987) reported that the genomic clone called LDR152 (D19S19) is tightly linked to DM; the maximum lod score was 15.4 at a recombination fraction = 0.0 (95% confidence limits 0.0-0.03). Using 2 RFLPs of the APOC2 gene, Pericak-Vance et al. (1986) demonstrated tight linkage to myotonic dystrophy; the maximum lod score was 16.29 at a recombination fraction of 0.02.
In 3 large kindreds, Friedrich et al. (1987) did linkage studies using RFLPs related to the C3 gene and the chromosome 19 centromeric heteromorphism as genetic markers. Three-point linkage analysis excluded DM from the 19cen-C3 segment and strongly supported its assignment to the proximal long arm of chromosome 19.
Harper (1986) demonstrated 2 to 5% recombination between myotonic dystrophy and APOC2, leading him to the conclusion that myotonic dystrophy may be just onto 19q or very close to the centromere on 19p. Bird et al. (1987) concluded that the APOC2 gene is very closely linked to the DM locus and proposed that APOC2 markers may be used for prenatal diagnosis of myotonic dystrophy because the loci are closely linked. Smeets et al. (1988) used synthetic oligonucleotides to discriminate between E3 and E4 alleles of APOE. The relevant segment of the APOE gene was enzymatically amplified and linkage with DM tested. A maximum lod score of 7.47 at a recombination frequency of 0.047 was found (male theta = female theta). No recombination (maximum lod score = 5.61 at theta = 0.0) was found between APOE and APOC2. Further analysis of the relationship of the human APOC2 gene to myotonic dystrophy was provided by MacKenzie et al. (1989), who reported a linkage study utilizing 6 RFLPs in 50 families with myotonic dystrophy. They observed significant linkage disequilibrium between the DM locus and APOC2 alleles. The maximum lod score was 17.869 at a theta of 0.04.
Bender et al. (1989) found no evidence of linkage with any of 35 serologic and biochemical markers. Brunner et al. (1989) concluded that the DM and CKMM loci are distal to the APOC2-APOE gene cluster; the orientation of DM and muscle-type creatine kinase (CKMM; 123310) was undetermined.
Johnson et al. (1989) presented evidence that DM is distal to the apolipoprotein cluster. Yamaoka et al. (1990) found a maximum lod score of 28.41 at theta = 0.01 for the linkage between CKMM and DM. They concluded, furthermore, that CKMM is on the same side and closer to DM than APOC2. Walsh et al. (1990) found a peak lod score of 9.29 at 2 cM for linkage of DM to APOC1 (107710) and a lod score of 8.55 at 4 cM for linkage of DM to CYP2A (122720). A maximum lod score of 9.09 at theta = 0.05 was observed for the linkage of APOC1 to CYP2A. CYP2A appeared to be proximal to DM, CKMM, and APOC2.
Smeets et al. (1989), Davies et al. (1989), Roses et al. (1989), Brunner et al. (1989), Harley et al. (1989), Brook et al. (1989), and Miki et al. (1989) presented linkage data for markers surrounding the myotonic dystrophy locus on human chromosome 19. Smeets et al. (1989) and Davies et al. (1989) also presented physical maps of the region derived from pulsed field gel electrophoresis analysis.
In a study of 65 myotonic dystrophy families from Canada and the Netherlands, Brunner et al. (1989) obtained a maximum lod score of 22.8 at a recombination frequency of 0.03 for linkage to CKMM. MacKenzie et al. (1990) ruled out a defect of the RYR1 gene (180901) as the cause of myotonic dystrophy; the 2 loci showed an interval of about 10 cM (maximum lod = 4.8). The order of loci was found to be 19cen--RYR1--APOC2--CKMM--DM--qter.
Bailly et al. (1991) excluded mutation of the CKMM gene as the cause of this disorder. CKMM cDNA was isolated from the skeletal muscle of an individual with DM. Sequencing of the CKMM cDNA from the chromosome 19 carrying the DM gene showed 2 novel polymorphisms but no translationally significant mutation.
Harley et al. (1991) concluded that the DM gene lies in region 19q13.2-q13.3 and that the closest proximal markers are APOC2 and CKM, approximately 3 cM and 2 cM from DM, respectively, in the order cen--APOC2--CKMM--DM. Ten of 12 polymorphic markers on 19q were shown to be proximal to the DM gene; the 2 that were distal to DM, PRKCG (176980) and D19S22, were approximately 25 cM and 15 cM, respectively, removed from DM.
Brunner et al. (1991) restudied the family reported by Spaans et al. (1986), ruled out linkage to chromosome 17 markers, thus excluding the gene (601097) associated with Charcot-Marie-Tooth disease, type Ia (118220), and demonstrated linkage to DNA markers from the APOC2 locus on chromosome 19. All affected individuals had inherited a unique APOC2 haplotype that was not found in their clinically and electrophysiologically normal sibs. In this family, a moderately severe neuropathy appeared to be the only clinical sign of myotonic dystrophy for many years. The results were consistent with either an unusual neuropathic mutation in the DM gene or involvement of 2 closely linked genes.
Linkage studies by Cobo et al. (1992) established the D19S63 marker as useful for prenatal and presymptomatic diagnosis and, as the closest marker to DM, in isolating the gene.
Molecular Genetics
### Identification of an Expanded Triplet Repeat
Harley et al. (1992) isolated a human genomic clone that detected novel restriction fragments specific to persons with myotonic dystrophy. A 2-allele EcoRI polymorphism was seen in normal persons, but in most affected individuals one of the normal alleles was replaced by a larger fragment, which varied in length both between unrelated affected individuals and within families. The unstable nature of this region was thought to explain the characteristic variation in severity and age at onset of the disease.
From a region of chromosome 19 flanked by 2 tightly linked markers, ERCC1 (126380) proximally and D19S51 distally, Buxton et al. (1992) isolated an expressed sequence that detected a DNA fragment that was larger in affected persons than in normal sibs or unaffected controls.
Aslanidis et al. (1992) cloned the essential region between the above mentioned markers in a 700-kb contig formed by overlapping cosmids and yeast artificial chromosomes (YACs). The central part of the contig bridged an area of about 350 kb between 2 flanking crossover borders. This segment, which presumably contained the DM gene, was extensively characterized. Two genomic probes and 2 homologous cDNA probes were situated within approximately 10 kb of genomic DNA and detected an unstable genomic segment in myotonic dystrophy patients. The length variation in this segment showed similarities to the instability seen in the fragile X locus (300624). The authors proposed that the length variation was compatible with a direct role in the pathogenesis of myotonic dystrophy.
Using positional cloning strategies, Brook et al. (1992) identified a CTG triplet repeat that is larger in myotonic dystrophy patients than in unaffected individuals. This sequence is highly variable in the normal population. Unaffected individuals have between 5 and 27 copies. Myotonic dystrophy patients who are minimally affected have at least 50 repeats, while more severely affected patients have expansion of the repeat-containing segment up to several kilobase pairs.
Tsilfidis et al. (1992) found a correlation between the length of the CTG trinucleotide repeat and the occurrence of severe congenital myotonic dystrophy. Furthermore, mothers of congenital DM individuals had higher than average CTG repeat lengths.
Shelbourne et al. (1993) described a probe that allowed direct identification of the myotonic dystrophy mutation in 108 of 112 unrelated patients. In 3 families for whom the clinical and genetic data obtained with linked probes were ambiguous, the specific probe identified persons at risk and demonstrated that a possible sporadic case of myotonic dystrophy was, in fact, familial. In 1 family, the size of the unstable myotonic dystrophy-specific fragment decreased on transmission to offspring who remained asymptomatic, which was an example of the reverse of anticipation.
Thornton et al. (1994) reported the clinical findings, muscle pathology, and genetic data on 3 individuals from 2 families with myotonic dystrophy in whom no trinucleotide repeat expansion was detected. The diagnosis of DM was based on involvement of the lens, cardiac conduction system, skin, and testes, in association with muscle weakness and myotonia. The diagnosis was supported by an autosomal dominant pedigree pattern and by features of muscle histopathology consistent with DM. This may be a situation like that of the fragile X syndrome in which rare affected individuals lack a trinucleotide repeat expansion and instead have deletions or point mutations.
Martorell et al. (1995) determined the CTG repeat length in 23 DM patients with varying clinical severity and various sizes of repeat amplification. They confirmed the findings of previous studies that there was no strong correlation between repeat length and clinical symptoms but found that the repeat length in peripheral blood cells of patients increased over a 5-year period, indicating continuing mitotic instability of the repeat throughout life. The degree of expansion correlated with the initial repeat size, and 50% of the patients with continuing expansion showed clinical progression of their disease symptoms over the 5-year study period.
Junghans et al. (2001) hypothesized that the diversity of phenotype in myotonic dystrophy may be due to the fact that the DM CTG repeat induces long-range cis chromosomal effects that suppress diverse genes on chromosome 19, resulting in manifest multisystem abnormalities in the clinical disorder. One of the features discussed in detail was hypercatabolism of immunoglobulin G in myotonic dystrophy and the possible significance of the FCGRT gene (601437) to the DM locus.
Using triplet-primed PCR (TP-PCR) of both DNA strands followed by direct sequencing, Musova et al. (2009) identified interruptions within expanded DM1 CTG repeats in almost 5% (3 of 63) of Czech DM1 families and in 2 of 2 intermediate alleles. None of 261 normal Czech alleles tested carried interruptions. The expanded alleles contained either regular runs of a (CCGCTG)n hexamer or showed a much higher complexity; they were always located at the 3-prime end of the repeat. The number and location of the interruptions were very unstable within families and subject to substantial change during transmission. However, 4 of 5 transmissions of the interrupted expanded allele in 1 family were accompanied by repeat contraction, suggesting that the interruptions render the DMPK CTG repeat more stable or could even predispose it to contractions. Overall, the contribution of the interrupted alleles to the phenotype was uncertain. Musova et al. (2009) suggested that the occurrence of interruptions may be missed by routine testing using PCR or Southern blotting.
### Anticipation
Buxton et al. (1992) found that the size of the fragment varied between affected sibs and also increased through generations in parallel with increasing severity of the disease. They reported a family in which persons in the first 2 generations had mild symptoms and a CTG repeat unit of approximately 60 repeats, whereas persons in the third and fourth generations had severe symptoms and a dramatic expansion in allele size--a demonstration of the physical basis of anticipation in myotonic dystrophy. Mahadevan et al. (1992) found an expansion of the CTG repeat region in the 3-prime untranslated region of the DM candidate gene in 253 of 258 (98%) persons with DM. They likewise observed that an increase in the severity of the disease in successive generations was accompanied by an increase in the number of trinucleotide repeats. Thus, 'anticipation' (progressively earlier onset and greater severity of symptoms), long a puzzling feature of DM, has an explanation and physical documentation in the progressive 'worsening' of the mutation. Buxton et al. (1992) postulated that this represented an unstable DNA sequence responsible for DM.
Tsilfidis et al. (1992) also examined the amount of intergenerational amplification in DM mother/offspring pairs. The average increase in the pairs with congenital DM was not statistically greater than that shown by noncongenital DM pairs. It was noteworthy, however, that whereas 9 of 42 cases (21%) showed no intergenerational amplification between mother and noncongenital offspring, all mother/congenital offspring pairs showed intergenerational amplification. In another analysis, they found that the intergenerational CTG repeat length increase was the same whether the father or the mother contributed the DM allele to the offspring.
Fu et al. (1992) reported that in the case of severe congenital DM, the paternal triplet repeat allele was inherited unaltered, while the maternal, DM-associated allele was unstable. They suggested that the mutational mechanism leading to DM is triplet repeat amplification, similar to that occurring in the fragile X syndrome. The genomic repeat is p(AGC)n. Richards and Sutherland (1992), therefore, referred to the trinucleotide repeat as p(AGC)n/p(CTG)n. They pointed out that this is the same repeat sequence found in the androgen receptor gene (313700) and amplified in Kennedy disease (313200), although transcription in the latter disorder is from the opposite strand of DNA. Richards and Sutherland (1992) indicated that the instability of the DM element extends beyond meiotic instability in affected pedigrees to mitotic instability, manifest as somatic variation--a smear of bands evident in some affected persons. Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients was documented by Martorell et al. (1998). They studied repeat length changes over time intervals of 1 to 7 years in 111 myotonic dystrophy patients with varying clinical severity and CTG repeat sizes. There was a correlation between the progression of size heterogeneity over time and the initial CTG repeat size.
The expansion of a CTG trinucleotide repeat, which represents the myotonic dystrophy mutation, is in complete linkage disequilibrium in both Caucasian (Harley et al., 1991) and Japanese (Yamagata et al., 1992) patients with a 2-allele insertion/deletion polymorphism located 5 kb upstream from the repeat, suggesting a single origin of the mutation. This finding was unexpected for a dominant disease that in its severe form diminishes or abolishes reproductive fitness. Such diseases are usually characterized by a high level of new mutations that compensate for the loss of abnormal alleles due to the decreased fitness. It was therefore suggested that DM could be due to recurrent mutations occurring on the background of a predisposing allelic form of the normal gene. Imbert et al. (1993) studied the association of CTG repeat alleles in a normal population to alleles of the insertion/deletion polymorphism and of a (CA)n repeat marker 90 kb from the DM mutation. The results strongly suggested that the initial predisposing event(s) consisted of a transition from a (CTG)-5 allele to an allele with 19 to 30 repeats. The heterogeneous class of (CTG)-19-30 alleles, which was found to have an overall frequency of about 10%, may constitute a reservoir for recurrent DM mutations.
Krahe et al. (1995) reported results in a Nigerian (Yoruba) DM family, the only indigenous sub-Saharan DM case reported to that time, that caused them to reassess the hypotheses that (1) the predisposition for (CTG)n instability resulted from a founder effect that occurred only once or a few times in human evolution; and (2) elements within the disease haplotype may predispose the (CTG)n repeat to instability. (A single haplotype composed of 9 alleles within and flanking the DM locus over a physical distance of 30 kb had been shown to be in complete linkage disequilibrium with DM.) All affected members of the Nigerian family had an expanded (CTG)n repeat in one allele of the DM gene. However, unlike all other DM populations studied to that time, disassociation of the (CTG)n repeat expansion from other alleles of the putative predisposing haplotype was found. Krahe et al. (1995) concluded that in this family, the expanded (CTG)n repeat was the result of an independent mutational event. This weakens the hypothesis that a single ancestral haplotype predisposes to repeat expansion.
Yamagata et al. (1996) studied linkage disequilibrium between CTG repeats and an Alu insertion/deletion polymorphism in the DMPK gene (605377) in 102 Japanese families, of which 93 were affected with DM. All of the affected chromosomes were in complete linkage disequilibrium with the Alu insertion allele. A strikingly similar pattern of linkage disequilibrium observed in European populations suggested a common origin of the DM mutation in the Japanese and European populations. The authors speculated that this mutation arose in a common Eurasian ancestor after the first separation of the African and the non-African populations, in light of the fact that the family reported by Krahe et al. (1995) did not show linkage disequilibrium with the Alu insertion/deletion polymorphism. Presumably, the mutation in that family represented a less-ancient event than the Eurasian mutation, accounting for the fact that DM is extremely rare in African populations.
Harley et al. (1993) demonstrated in 439 individuals affected with myotonic dystrophy from 101 kindreds that the size of the unstable CTG repeat detected in nearly all cases was related both to age at onset of the disorder and to the severity of the phenotype. The largest repeat sizes, 1.5 to 6.0 kb, were seen in patients with congenital myotonic dystrophy, while the minimally affected patients had repeat sizes of less than 0.5 kb. Only 4 of 182 parent-child pairs showed a definite decrease in repeat size in the offspring; almost all showed that the offspring had an earlier age of onset and a larger repeat size than their parents. Increase in repeat size from parent to child was similar for both paternal and maternal transmissions when the increase was expressed as a proportion of the parental repeat size. Analysis of congenitally affected cases showed not only that they had on the average the largest repeat sizes, but also that their mothers had larger mean repeat sizes, supporting previous suggestions that a maternal effect is involved.
Brunner et al. (1993) examined the kinetics of triplet expansion by analyzing repeat length in offspring of 38 carriers with small mutations (less than 100 CTG trinucleotides). Repeat lengths greater than 100 were more common in offspring of male transmitters than in offspring of female transmitters. They suggested that selection against sperm with extreme amplifications may be required to explain maternal inheritance of congenital myotonic dystrophy.
Sutherland and Richards (1992) editorialized on the legitimization of anticipation. According to Harper et al. (1992), 'The history of the scientific study of anticipation is...to a remarkable degree, the history of myotonic dystrophy.' In the second decade of this century, several observers noticed that ancestors of myotonic dystrophy patients had cataracts but no muscular symptoms themselves.
Brunner et al. (1993) and others observed the opposite of anticipation, namely, reverse mutation. They observed 2 families in which an affected father transmitted a normal allele to an offspring; in each case, an expanded CTG trinucleotide repeat decreased in size to the normal range. This was the first report of spontaneous correction of a deleterious mutation upon transmission to unaffected offspring in humans. Abeliovich et al. (1993) likewise observed what they referred to as 'negative expansion': a family in which the affected father had a 3.0-kb expansion of the DM unstable region, and a fetus inherited the mutated gene but with an expansion of only 0.5 kb. See review by Brook (1993). Ashizawa et al. (1994), who referred to the phenomenon as contraction rather than negative expansion, showed that it occurred in 6.4% of 1,489 DM offspring. Approximately one-half of these cases showed clinical anticipation despite the reduced CTG repeat size in the offspring. The most striking examples were 2 cases in which anticipation resulted in congenital DM in the offspring with contractions of the CTG repeat. They did not observe a single case in which the age at onset of DM in the symptomatic offspring was later than the age at onset in the parent, although Harley et al. (1993) reported 3 such cases.
Lavedan et al. (1993) found differently sized repeats in various DM tissues from the same individual, which may explain why the size of the mutation observed in lymphocytes does not necessarily correlate with the severity and nature of symptoms. With CTG sequences of more than 0.5 kb, Lavedan et al. (1993) observed that intergenerational variation was greater through female meioses, whereas a tendency to compression was observed almost exclusively in male meioses. For CTG sequences under 0.5 kb, a positive correlation was observed between the size of the repeat and the intergenerational enlargement for both male and female meioses. Anvret et al. (1993) found in 8 patients with myotonic dystrophy that the length of the CTG repeat expansion was greater in DNA isolated from muscle than in DNA isolated from lymphocytes. Dubel et al. (1992) found heterogeneity in the size of amplification in affected identical twins.
A family with myotonic dystrophy described by de Jong (1955) was restudied by de Die-Smulders et al. (1994) from the point of view of the long-term effects of anticipation. They defined clinical anticipation as the cascade of mild, adult, childhood, or congenital disease in successive generations. Such clinical anticipation appeared to be a relentless process occurring in all affected branches of the 5-generation family studied. The transition from the mild to the adult type was associated with transmission through a male parent. Stable transmission of the asymptomatic/mild phenotype showed a female transmission bias. Gene loss in the patients in this family was complete, owing to infertility of the male patients with adult-onset disease and the fact that mentally retarded patients did not procreate. Of the 46 at-risk subjects in the 2 youngest generations, only 1 was found to have a full mutation. This is the only subject who may transmit the gene to the sixth generation. No protomutation carriers were found in the fourth and fifth generations. Therefore, it seemed highly probable that the DM gene would be eliminated from this pedigree within 1 generation.
Simmons et al. (1998) demonstrated relatively stable transmission of a (CTG)60 repeat allele through 3 generations of a large DM family; only 3 members, all offspring of male carriers, had expansions in the clinically significant range.
Barcelo et al. (1994) insisted that there must be a maternal 'additive' factor involved in congenital DM. Their findings suggested that while a high number of repeats seem to be a necessary condition for congenital DM, this alone is not sufficient to explain its exclusive maternal inheritance. This was most clearly reflected in the fact that in their study group, approximately one-quarter of DM cases inherited from affected fathers had repeat numbers equal to or greater than those found in the congenital DM cases with the lowest number of repeats (approximately 700 repeats).
Novelli et al. (1995) provided additional evidence that size of repeat was insufficient to explain the severity. Two affected mothers with similar numbers of repeats gave birth to offspring with discordant phenotypes. Childhood and congenital myotonic dystrophy affected the son and the daughter of one sister, with CTG triplet repeats in lymphocytes of 700 and 1,100, respectively. In contrast, the affected son of the other sister had onset mild myotonic dystrophy at age 14 years, despite having 1,400 CTG triplets detected in lymphocytes.
Hamshere et al. (1999) found that in patients with CTG expansions of greater than 1.2 kb, there was no significant correlation between the age of onset of symptoms and the size of their repeat. Regression analysis predicted that the absolute size of the CTG repeat may not be a good indicator of the expected age of onset of symptoms when the size of the repeat is 0.4 kb or greater.
Khajavi et al. (2001) investigated the mechanism of expansion bias by cloning single lymphoblastoid cells from DM1 patients and normal subjects. In all DM1 cell lines, the expanded CTG repeat alleles gradually shifted toward further expansion by 'step-wise' mutations. Of 29 cell lines, 8 yielded a rapidly proliferating mutant with a gain of large repeat size that became the major allele population, eventually replacing the progenitor allele population. By mixing cell lines with different repeat expansions, the authors found that cells with larger CTG repeat expansion had a growth advantage over those with smaller expansions in culture. This growth advantage was attributable to increased cell proliferation mediated by Erk1 (601795) and Erk2 (176948) activation, which is negatively regulated by p21(WAF1) (116899). The authors designated this phenomenon 'mitotic drive,' which they suggested is a novel mechanism that can explain the expansion bias of DM1 CTG repeat instability at the tissue level, on a basis independent of the DNA-based expansion models. Since the life spans of the DM1 cells were significantly shorter than normal cell lines, the authors hypothesized that DM1 cells drive themselves to extinction through a process related to increased proliferation.
Puymirat et al. (2009) reported 2 unrelated French families in which paternal transmission of an expanded CTG repeat resulting in contraction of the repeat in the offspring. In 1 family, 2 affected brothers with 500 and 630 repeats, respectively, transmitted the alleles to their 4 offspring, who had between 260 and 360 repeats. Three of the 4 young adult offspring were asymptomatic. In the second family, the transmitting father had 500 repeats and his 4 asymptomatic young adult children all had 250 repeats. The findings suggested that a paternal factor acts to prevent CTG repeat expansion in DM1.
Genotype/Phenotype Correlations
Arsenault et al. (2006) examined 102 patients with DM1 carrying small CTG repeat expansions in the DMPK gene. Most patients with 50 to 99 repeats were asymptomatic except for cataracts. Patients with 100 to 200 repeats were significantly more likely to have myotonia, weakness, excessive daytime sleepiness, and myotonic discharges on EMG.
Barbe et al. (2017) examined DMPK CAG repeat expansion length and CpG methylation status surrounding the repeat in peripheral blood samples from 59 patients with classic DM1 and 20 patients with congenital DM1 (CDM1), as well as 7 chorionic villous samples (CVS), 1 fetal skin sample, 1 sperm sample, and 4 human embryonic stem cell (hESC) lines carrying a DM1 mutation and the corresponding blood DNAs. There was a significant correlation between congenital DM1 and increased methylation both upstream and downstream of the repeat (19 of 20 samples showed this; p = 7.05 x 10(-12)). The repeat size in congenital DM1 ranged from 1,100 to 4,700. Most non-CDM1 individuals were devoid of methylation, although a few showed downstream methylation. Only 2 non-CDM1 individuals showed upstream methylation; both had maternally-derived childhood-onset. Among CVS and hESC lines, there was a correlation between maternal inheritance and increased methylation. In contrast, paternally-derived samples never showed upstream methylation. CTG tract length did not strictly correlate with CDM1 or methylation. Barbe et al. (2017) concluded that methylation patterns flanking the CTG repeat are stronger indicators of congenital DM1 than repeat size, and that DMPK methylation may account for the maternal bias for CDM1 transmission, larger maternal CTG expansions, age of onset, and clinical continuum.
Pathogenesis
### CTG-Expansion Effects on Chromosome Structure
The mechanism by which the expanded trinucleotide repeat in the 3-prime untranslated region of the DMPK gene (605377) leads to the clinical features is unclear. The DM region of chromosome 19 is gene rich, and it is possible that the repeat expansion may lead to dysfunction of a number of transcription units in the vicinity, perhaps as a consequence of chromatin disruption. Boucher et al. (1995) searched for genes associated with a CpG island at the 3-prime end of DMPK. Sequencing of the region showed that the island extends over 3.5 kb and is interrupted by the (CTG)n repeat. Comparison of genomic sequences downstream (centromeric) of the repeat in human and mouse identified regions of significant homology. This led to the identification of the gene which Boucher et al. (1995) called 'DM locus-associated homeodomain protein' (DMAHP; 600963). They found that this protein is expressed in a number of human tissues, including skeletal muscle, heart, and brain.
Harris et al. (1996) reviewed the molecular genetics of DM. They noted that published results on the effect of the trinucleotide repeat in the 3-prime end of DMPK on the gene's transcription have been contradictory. There were reports that DMPK expression is increased at the transcriptional level and reports that transcription is decreased. They noted also that the complexity of clinical manifestations in myotonic dystrophy and the results of animal studies suggest that other genes may be involved in this disease. Harris et al. (1996) reviewed results of studies on mice in which DMPK had been homozygously deleted (Jansen et al., 1996), and studies in which a DMPK transgene had been introduced to produce overexpression (Reddy et al., 1996). Harris et al. (1996) concluded that the animal studies ruled out haploinsufficiency of DMPK or overexpression of DMPK as the only contributing factor in DM. Harris et al. (1996) postulated that other genes may be involved. They proposed that the gene encoding DM locus-associated homeodomain protein (DMAHP), which lies immediately downstream of the repeat, may play a role in DM.
Roberts et al. (1997) used material from a DM homozygote who had expansion of CTG repeats on both alleles to study pathogenetic mechanisms in myotonic dystrophy.
Otten and Tapscott (1995) demonstrated that a nuclease-hypersensitive site is positioned adjacent to the CTG repeat at the wildtype DM locus and that large expansions of the repeat eliminated the hypersensitive site, converting the region surrounding the repeats to a more condensed chromatin structure. As nuclease-hypersensitive sites often coincide with gene regulatory regions, the decreased accessibility of transcription factors to this region in the expanded allele might affect local gene expression. Therefore Klesert et al. (1997) sought to determine whether this hypersensitive site contained regulatory elements that would enhance transcription in fibroblasts or skeletal muscle cells, 2 cell types in which the site was known to be present. They found that the hypersensitive site contains an enhancer element that regulates transcription of the adjacent DMAHP homeobox gene. Analysis of DMAHP expression in the cells of DM patients with loss of the hypersensitive site revealed a 2- to 4-fold reduction in steady-state DMAHP transcript levels relative to wildtype controls. Thus the results demonstrated that CTG-repeat expansions can suppress local gene expression and implicate DMAHP in DM pathogenesis. Along the same line, Thornton et al. (1997) showed that DMAHP expression in myoblasts, muscle, and myocardium was reduced by the DM mutation in cis, and the magnitude of this effect depended on the extent of the CTG repeat expansion. These observations supported the hypothesis that DMAHP participates in the pathophysiology of DM.
Sarkar et al. (1998) described a bacterial system that recapitulates the striking bimodal pattern of CTG amplification. Incremental expansions predominated in CTG tracts smaller than Okazaki fragment size, while saltatory expansions increased in repeat tracts larger than or equal to Okazaki fragment size. CTG amplification required loss of SbcC, a protein that modulates cleavage of single-stranded DNA and degradation of duplex DNA from double-strand breaks. These results suggested to Sarkar et al. (1998) that noncanonical single strand-containing secondary structures in Okazaki fragments and/or double-strand breaks in repeat tracts are intermediates in CTG amplification.
Saveliev et al. (2003) demonstrated that the relatively short triplet repeat expansions found in myotonic dystrophy and Friedreich ataxia (see 229300) confer variegation of expression on a linked transgene in mice. Silencing was correlated with a decrease in promoter accessibility and was enhanced by the classic position effect variegation (PEV) modifier heterochromatin protein-1 (HP1; 604478). Notably, triplet repeat-associated variegation was not restricted to classic heterochromatic regions but occurred irrespective of chromosomal location. Because the phenomenon described shares important features with PEV, Saveliev et al. (2003) suggested that the mechanisms underlying heterochromatin-mediated silencing might have a role in gene regulation at many sites throughout the mammalian genome and may modulate the extent of gene silencing and hence severity in several triplet-repeat diseases.
Using methylation-sensitive restriction enzymes, Steinbach et al. (1998) characterized the methylation pattern on the 5-prime side of the CTG repeat in the DMPK gene of normal individuals and of patients with myotonic dystrophy who showed expansions of the repetitive sequence. The gene segment analyzed corresponded to the restriction fragment carrying exons 11 to 15. There was constitutive methylation in intron 12 at restriction sites that were localized 1,159 to 1,232-bp upstream of the CTG repeat, whereas most, if not all, of the other restriction sites in this region were unmethylated, in normal individuals and most of the patients. In a number of young and severely affected patients, however, complete methylation of these restriction sites was found in the mutated allele. In most of these patients, the onset of the disease was congenital. Preliminary in vivo footprinting data gave evidence for protein-DNA contact in normal genes at an Sp1 consensus binding site upstream of the CTG repeat and for a significant reduction of this interaction in cells with a hypermethylated DMPK gene. The findings suggested that hypermethylation may be another genetic factor causally related to earlier onset and more severe manifestations of myotonic dystrophy.
An expansion of a CTG repeat at the DM1 locus causes myotonic dystrophy by altering the expression of 2 adjacent genes, DMPK and SIX5 (600963) and through a toxic effect of the repeat-containing RNA. Filippova et al. (2001) identified 2 CTCF (604167) binding sites that flank the CTG repeat and form an insulator element between DMPK and SIX5. Methylation of these sites prevents binding of CTCF, indicating that the DM1 locus methylation in congenital DM would disrupt insulator function. Furthermore, CTCF binding sites were associated with CTG/CAG repeats at several other loci. Filippova et al. (2001) suggested a general role for CTG/CAG repeats as components of insulator elements at multiple sites in the human genome.
In contrast to the findings of Steinbach et al. (1998), Spits et al. (2010) found no correlation between increased methylation of CpG sites upstream of the CTG repeat and CTG expansion size or disease severity in samples from 22 DM1 patients with expansions ranging from 180 to 2,800 repeats. The authors studied 8 CpG sites, including the previously studied SacII, HpaII, and HhaI endonuclease sites. The HhaI and HpaII sites were found to be constitutively unmethylated in all samples, including wildtype, whereas the SacII site showed differential methylation, but it did not correlate with expanded repeat or disease severity.
### CTG-Expansion Effects on RNA
Timchenko et al. (1996) identified a novel hnRNP gene whose product, NAB50 (601074), binds to the CUG repeat region of the DM kinase mRNA. Since myotonic dystrophy is caused by a CTG expansion in the 3-prime untranslated region of the DM gene, one model of DM pathogenesis suggests that RNAs from the expanded allele create a gain-of-function mutation by the inappropriate binding of proteins to the CUG repeats. Philips et al. (1998) presented data indicating that the conserved heterogeneous nuclear ribonuclear protein CUG-binding protein (CUGBP; 601074) may mediate the transdominant effect of the RNA. CUGBP was found to bind to the human cardiac troponin T (TNNT2; 191045) pre-messenger RNA and regulate its alternative splicing. Splicing of cardiac troponin T was disrupted in DM striated muscle and in normal cells expressing transcripts that contain CUG repeats. Altered expression of genes regulated posttranscriptionally by CUGBP, therefore, may contribute to DM pathogenesis. Philips et al. (1998) predicted that processing (e.g., splicing) of transcripts from muscle-specific genes is disrupted in DM.
Tiscornia and Mahadevan (2000) identified 4 RNA-splicing factors that bind to 2 short regions 3-prime of the (CUG)n of the DMPK (605377) mRNA: HNRNPC (164020), U2 auxiliary factor (see U2AF1; 191317), polypyrimidine tract-binding protein (PTB; 600693), and PTB-associated splicing factor (PSF; 605199). They also identified a novel 3-prime DMPK exon that results in an mRNA lacking the repeats. In contrast to (CUG)n-containing mRNAs, the novel isoform is not retained in the nucleus in DM cells, resulting in imbalances in relative levels of cytoplasmic DMPK mRNA isoforms and a dominant effect of the mutation on DMPK.
To study the effects of the DM mutation in a controlled environment, Amack et al. (1999) established a cell culture model system using mouse myoblasts. By expressing chimeric reporter constructs containing a reporter gene fused to a human DMPK 3-prime-untranslated region (3-prime-UTR), they identified both cis and trans effects that were mediated by the DM mutation. They found that a mutant DMPK 3-prime-UTR, with as few as 57 CTGs, had a negative cis effect on protein expression and resulted in the aggregation of reporter transcripts into discrete nuclear foci. They determined by deletion analysis that an expanded (CTG)n tract alone was sufficient to mediate these cis effects. Moreover, in contrast to the normal DMPK 3-prime-UTR mRNA, a mutant DMPK 3-prime-UTR mRNA with (CUG)200 selectively inhibited myogenic differentiation of the mouse myoblasts. The myoblast fusion defect could be rescued by eliminating the expression of the mutant DMPK 3-prime-UTR transcript. These results provided evidence that the DM mutation acts in cis to reduce protein production (consistent with DMPK haploinsufficiency) and in trans as a 'riboregulator' to inhibit myogenesis.
Evidence supports a model in which nuclear accumulation of RNA from the expanded allele contributes to pathogenesis through a trans-dominant effect of CUG-repeat RNA on RNA processing by altering the function of CUG-binding proteins (Timchenko, 1999; Miller et al., 2000). One CUG-binding protein, CUGBP, is a member of the CELF family of RNA-processing factors that regulate alternative splicing (Ladd et al., 2001). Savkur et al. (2001) demonstrated that alternative splicing of the insulin receptor (INSR; 147670) pre-mRNA is aberrantly regulated in DM1 skeletal muscle tissue, resulting in predominant expression of the lower-signaling nonmuscle isoform, IR-A, which lacks exon 11. IR-A predominates in DM1 skeletal muscle cultures, which exhibit a decreased metabolic response to insulin relative to cultures from normal controls. Steady-state levels of CUGBP are increased in DM1 skeletal muscle; overexpression of CUGBP in normal cells induces a switch to IR-A. The CUGBP protein mediates this switch through an intronic element located upstream of the alternatively spliced exon 11, and specifically binds with this element in vitro. These results supported a model in which increased expression of a splicing regulator contributes to insulin resistance in DM1 by affecting alternative splicing of INSR pre-mRNA. Alternative splicing of cardiac troponin T (TNNT2; 191045), a demonstrated target of CUGBP regulation, is altered in DM1 heart tissues and skeletal muscle cultures (Philips et al., 1998). The aberrant regulation of cardiac troponin T alternative splicing in DM1 cells requires the intronic binding site for CUGBP, demonstrating that the aberrant regulation is mediated by an abnormal activity of CUGBP or other CELF proteins.
Amack and Mahadevan (2001) showed that DMPK transcripts containing expanded CUG tracts can form both nuclear and cytoplasmic RNA foci. However, transcripts containing neither a CUG expansion alone nor a CUG expansion plus the distal region of the DMPK 3-prime UTR RNA affected C2C12 myogenesis. This implies that RNA foci formation and perturbation of any RNA binding factors involved in this process are not sufficient to block myoblast differentiation. RNA analysis of myogenic markers revealed that mutant DMPK 3-prime UTR mRNA significantly impeded upregulation of the differentiation factors myogenin (159980) and p21 (116899).
Sergeant et al. (2001) showed that the pattern of MAPT isoforms aggregated in DM1 brain lesions was distinct, consisting mainly of the shortest human tau isoform. Reduced expression of tau isoforms containing exon 2 was observed at both the mRNA and protein levels. Large expanded CTG repeats were detected and showed marked somatic heterogeneity between DM1 cases and in cortical brain regions analyzed. The authors suggested a relationship between the CTG repeat expansion and the alteration of tau expression.
Mankodi et al. (2001) investigated the possibility that DM2 (602668) is caused by expansion of a CTG repeat or related sequence. Analysis of DNA by repeat expansion detection methods and RNA by ribonuclease protection did not show an expanded CTG or CUG repeat in DM2. However, hybridization of muscle sections with fluorescence-labeled CAG-repeat oligonucleotides showed nuclear foci in DM2 similar to those seen in DM1. Nuclear foci were present in all patients with symptomatic DM1 (n = 9) or DM2 (n = 9), but not in any disease controls or healthy subjects (n = 23). The foci were not seen with CUG- or GUC-repeat probes. Foci in DM2 were distinguished from DM1 by lower stability of the probe-target duplex, suggesting that a sequence related to the DM1 CUG expansion may accumulate in the DM2 nucleus. Muscleblind proteins (see 606516), which interact with expanded CUG repeats in vitro, localized to the nuclear foci in both DM1 and DM2. The authors proposed that nuclear accumulation of mutant RNA is pathogenic in DM1, a similar disease process may occur in DM2, and muscleblind may play a role in the pathogenesis of both disorders.
In DM, expression of RNAs that contain expanded CUG or CCUG repeats is associated with degeneration and repetitive action potentials (myotonia) in skeletal muscle. Using skeletal muscle from a transgenic mouse model of DM, Mankodi et al. (2002) showed that expression of expanded CUG repeats reduces the transmembrane chloride conductance to levels well below those expected to cause myotonia. The expanded CUG repeats trigger aberrant splicing of pre-mRNA for CLC1 (CLCN1; 118425), the main chloride channel in muscle, resulting in loss of CLC1 protein from the surface membrane. Mankodi et al. (2002) identified a similar defect in CLC1 splicing and expression in human DM1 and DM2. They proposed that a transdominant effect of mutant RNA on RNA processing leads to chloride channelopathy and membrane hyperexcitability in DM.
Charlet-B et al. (2002) demonstrated loss of CLC1 mRNA and protein in DM1 skeletal muscle tissue due to aberrant splicing of the CLC1 pre-mRNA. They showed that the splicing regulator, CUGBP, which is elevated in DM1 striated muscle, binds to the CLC1 pre-mRNA, and that overexpression of CUGBP in normal cells reproduces the aberrant pattern of CLC1 splicing observed in DM1 skeletal muscle. Charlet-B et al. (2002) proposed that disruption of alternative splicing regulation causes a predominant pathologic feature of DM1.
Ebralidze et al. (2004) showed that DMPK mutant RNA binds and sequesters transcription factors, with up to 90% depletion of selected transcription factors from active chromatin. Diverse genes are consequently reduced in expression, including the ion transporter CLC1, which has been implicated in myotonia. When transcription factor specificity protein-1 (SP1; 189906) was overexpressed in DM1-affected cells, low levels of mRNA for CLC1 were restored to normal. The authors concluded that transcription factor leaching from chromatin by mutant RNA provides a potentially unifying pathomechanistic explanation for this disease.
The myotubularin-related 1 gene (MTMR1; 300171) belongs to a highly conserved family of eukaryotic phosphatases. Buj-Bello et al. (2002) identified 3 coding exons in the MTMR1 intron 2 that are conserved between mouse and human, are alternatively spliced, and give rise to 6 mRNA isoforms. One of the transcripts is muscle specific, is induced during myogenesis, and represents the major isoform in adult skeletal muscle. The authors found a striking reduction in the level of the muscle-specific isoform and the appearance of an abnormal MTMR1 transcript in differentiated congenital DM1 muscle cells in culture as well as in skeletal muscle from congenital DM1 patients. The authors hypothesized that MTMR1 may play a role in muscle formation, and may represent another target for abnormal mRNA splicing in myotonic dystrophy.
Jiang et al. (2004) found that in postmortem DM1 brain tissue, mutant DMPK transcripts were widely expressed in cortical and subcortical neurons. The mutant transcripts accumulated in discrete foci within neuronal nuclei. Proteins in the muscleblind (see MBNL1, 606516) family were recruited into the RNA foci and depleted elsewhere in the nucleoplasm. In parallel, a subset of neuronal pre-mRNAs showed abnormal regulation of alternative splicing. The authors suggested that CNS impairment in DM1 may result from a deleterious gain of function by mutant DMPK mRNA.
Kimura et al. (2005) investigated the alternative splicing of mRNAs of 2 major proteins of the sarcoplasmic reticulum, the ryanodine receptor-1 (RYR1; 180901) and sarcoplasmic/endoplasmic reticulum Ca(2+)-transporting ATPases SERCA1 (ATP2A1; 108730) or SERCA2 (ATP2A2; 108740), in skeletal muscle from DM1 patients. The fetal variants, ASI(-) of RYR1, which lacks residues 3481 to 3485, and SERCA1b, which differs at the C-terminal end, were significantly increased in DM1 skeletal muscle and a transgenic mouse model of DM1 (HAS-LR). In addition, a novel variant of SERCA2 was significantly decreased in DM1 patients. The total amount of mRNA for RYR1, SERCA1, and SERCA2 in DM1 and the expression levels of their proteins in HAS-LR mice were not significantly different. However, heterologous expression of ASI(-) in cultured cells showed decreased affinity for ryanodine but similar calcium dependency, and decreased channel activity in single-channel recording when compared with wildtype RYR1. In support of this, RYR1-knockout myotubes expressing ASI(-) exhibited a decreased incidence of calcium oscillations during caffeine exposure compared with that observed for myotubes expressing wildtype RYR1. Kimura et al. (2005) suggested that aberrant splicing of RYR1 and SERCA1 mRNAs may contribute to impaired calcium homeostasis in DM1 muscle.
Hino et al. (2007) identified motifs downstream of exon 22 of the SERCA1 gene that serve as MBNL1-binding motifs and positively regulate SERCA1 exon 22 splicing. Overexpression of the CUG repeat expansion of DMPK mRNA resulted in the exclusion of exon 22 of SERCA1. These results suggested that sequestration of MBNL1 into the CUG repeat expansion of DMPK mRNA caused the splicing defect and exclusion of SERCA1 exon 22. The expression of this aberrantly spliced SERCA1 could affect the regulation of calcium concentration of sarcoplasmic reticulum in DM1 patients.
Using a reversible transgenic mouse model of RNA toxicity in DM1, Yadava et al. (2008) showed that overexpression of a normal human DMPK 3-prime UTR with only (CUG)5 resulted in cardiac conduction defects, increased expression of Nkx2.5 (NKX2E; 600584), and profound disturbances in connexin-40 (GJA5; 121013) and connexin-43 (GJA1; 121014). Overexpression of the DMPK 3-prime UTR in mouse skeletal muscle also induced transcriptional activation of Nkx2.5 and its targets. Human DM1 muscle, but not normal human muscle, showed similar aberrant expression of NKX2.5 and its targets. In mice, the effects on Nkx2.5 and its targets were reversed by silencing toxic RNA expression. Furthermore, haploinsufficiency of Nkx2.5 in Nkx2.5 +/- mice had a cardioprotective effect against defects induced by DMPK 3-prime UTR. Yadava et al. (2008) concluded that NKX2.5 is a modifier of DM1-associated RNA toxicity in heart.
Using RT-PCR to study skeletal and cardiac muscle from patients with DM1, Nakamori et al. (2008) observed splicing abnormalities in the alpha-dystrobrevin gene (DTNA; 601239), which is part of the skeletal muscle dystrophin (DMD; 300377)-glycoprotein complex. Protein analysis showed that 1 of the abnormally spliced DTNA isoforms localized to the sarcolemma of DM1 muscle and caused enhanced recruitment of alpha-syntrophin (SNTA1; 601017) to the sarcolemma. Nakamori et al. (2008) postulated that these changes may interfere with signaling in DM1 muscle cells.
Botta et al. (2008) found that the DMPK CTG repeat expansion size correlated with splicing defects observed in muscle samples from 12 patients with DM1, with particular attention to the developmentally regulated genes INSR, TNNC1 (191040), CLCN1, and MBNL1. There was also a correlation between increased expansion size and the number of ribonuclear foci, which represented nuclear retention of untranslated DMPK transcripts. There was no relationship between expression levels of the DMPK transcript and repeat expansion size.
Fugier et al. (2011) demonstrated that alternative splicing of the BIN1 gene (601248) was disrupted in muscle cells derived from patients with DM1 and DM2. Exon 11 of BIN1 mRNA was skipped, and the amount of skipped mRNA correlated with disease severity. This splicing misregulation was associated with sequestration of the splicing regulator MBNL1 due to pathogenic expanded CUG or CCUG repeats. Expression of BIN1 without exon 11 resulted in little or no T tubule formation in cultured muscle cells, since this splice variant lacks a phosphatidylinositol 5-phosphate-binding site necessary for membrane-tubulating activities. Skeletal muscle biopsies from patients with DM1 showed disorganized BIN1 localization and irregular T tubule networks. Promotion of the skipping of Bin1 exon 11 in mouse skeletal muscle resulted in abnormal T tubules and decreased muscle strength, although muscle integrity was maintained. There was also decreased expression of Cacna1s (114208), which plays a role in the excitation-contraction coupling process. The findings suggested a link between abnormal BIN1 expression and muscle weakness in myotonic dystrophy.
Tang et al. (2012) observed altered splicing of the calcium channel subunit CAV1.1 (CACNA1S) in muscle of patients with DM1 and DM2 compared with normal adult muscle and muscle of patients with facioscapulohumeral muscular dystrophy (FSHD; see 158900). A significant fraction of CAV1.1 transcripts in DM1 and DM2 muscle showed skipping of exon 29, which represents a fetal splicing pattern. Forced exclusion of exon 29 in normal mouse skeletal muscle altered channel gating properties and increased current density and peak electrically evoked calcium transient magnitude. Downregulation of Mbnl1 in mouse cardiac muscle or overexpression of Cugbp1 in mouse tibialis anterior muscle enhanced skipping of exon 29, suggesting that these splicing factors may be involved in the CAV1.1 splicing defect in myotonic dystrophy.
Rinaldi et al. (2012) found downregulation and aberrant splicing of the MYH14 (608568) gene in muscle biopsies from 12 patients with DM1 compared to 7 controls. DM1 patients had increased amounts of the alternatively spliced MYH14 isoform NMHCII-C0 that lacks 8 amino acids in exon 6 close to the ATP binding loop; this isoform has decreased actin-activated MgATPase activity compared to the isoform with the 8 amino acids (NMHCII-C1). The amount of aberrantly spliced MYH14 was proportionate to the DMPK CTG expansion grade. However, MYH14 retained normal subcellular localization in DM1 patient muscle, albeit at lower amounts than in controls. Minigene assays indicated that levels of MBNL1 positively regulated the inclusion of MYH14 exon 6, suggesting that the DMPK expansion interferes with MBNL1 processing of MYH14 pre-mRNA. Rinaldi et al. (2012) suggested that alterations in expression of the MYH14 gene may contribute to the pathogenesis of DM1 and may underlie the occasional observation of sensorineural hearing loss in DM1 patients.
Jain and Vale (2017) showed that repeat expansions create templates for multivalent basepairing, which causes purified RNA to undergo a sol-gel transition in vitro at a similar critical repeat number as observed in Huntington disease (143100), spinocerebellar ataxia (e.g., 164400), myotonic dystrophy, and FTDALS1 (105550). In human cells, RNA foci form by phase separation of the repeat-containing RNA and can be dissolved by agents that disrupt RNA gelation in vitro. Jain and Vale (2017) concluded that, analogous to protein aggregation disorders, their results suggested that the sequence-specific gelation of RNAs could be a contributing factor to neurologic disease.
### CTG-Expansion Effects on Cell Function
Furling et al. (2001) developed an in vitro cell culture system which displayed several defects previously described for congenital myotonic dystrophy (CDM) muscle in vivo. Satellite cells are quiescent muscle cells which retain the ability to become myogenic precursor cells (myoblasts). Human satellite cells were isolated from the quadriceps muscles of 3 CDM fetuses with different clinical severity. By Southern blot analysis, all 3 cultures were found to have approximately 2,300 CTG repeats. This CTG expansion was found to progressively increase during the proliferative life span, confirming instability of this triplet in skeletal muscle cells. The CDM myoblasts and myotubes showed abnormal retention of mutant RNA in nuclear foci. The proliferative capacity of the CDM myoblasts was reduced and a delay in fusion, differentiation, and maturation was observed in the CDM cultures compared with unaffected myoblast cultures. The clinical severity and delayed maturation observed in the CDM fetuses were closely reflected by the phenotypic modifications observed in vitro. The authors concluded that satellite cells are defective in CDM and may be implicated in the delay in maturation and muscle atrophy that has been described in CDM fetuses.
Diagnosis
In classic adult-onset cases, clinical diagnosis is straightforward with demonstration of progressive distal and bulbar dystrophy in the presence of myotonia, with frontal balding, and cataracts. Confirmatory evidence is provided by demonstration of depressed IgG and elevated CPK in the serum. Clinical diagnosis can be difficult in mild cases, where cataracts may be the only manifestation (Bundey et al., 1970).
In studies of an extensively affected Labrador kindred, Webb et al. (1978) concluded that lens opacities are not a reliable diagnostic sign. Many younger affected persons, including one in his 20s, did not have lens opacities despite clear muscular involvement. On the other hand, Ashizawa et al. (1992) concluded that bilateral iridescent and posterior cortical lens opacities are highly specific for DM and are useful for establishing the clinical diagnosis. The sensitivity of these 2 features was found to be 46.7% and 50.0%, respectively, in their series, while their specificities were 100% in both cases.
Direct analysis of the size of the CTG repeat by Southern blotting permits DNA diagnosis. Normal individuals have 5 to 37 CTG repeats, whereas patients have from more than 50 to several thousand CTG repeats in peripheral leukocytes (see review by Pizzuti et al., 1993).
Reardon et al. (1992) described a 5-year experience in providing presymptomatic and prenatal molecular diagnostic services based on the linkage principle using closely linked markers in 161 families. Only 10 analyses out of 235 proved uninformative, but a further 5 requests (1.9%) could not be reported because of uncertainty in clinical status. Seven of 81 (8.6%) patients considered to be at low risk on clinical grounds were found to be at high risk of carrying the gene. Reardon et al. (1992) emphasized that careful clinical examination and appropriate investigations of nonmolecular nature remain a cornerstone of diagnosis.
Clinical Management
Lightweight ankle-foot orthoses are useful for foot drop, as are specially designed utensils for hand weakness. Weakness of respiratory muscles may require postural drainage and nocturnal respiratory support in advanced ages. Heart failure and aspiration pneumonia secondary to impaired esophageal motility should be considered. Nocturnal hypoventilation may contribute to a hypersomnia distinct from narcolepsy (161400), and should be evaluated with sleep studies.
Prolongation of the PR interval can progress to heart block, requiring placement of a pacemaker. Periodic EKGs and avoidance of drugs such as procainamide and quinine (Griggs et al., 1975) are recommended.
Myotonia is rarely a major clinical concern. Those patients with significant stiffness benefit most from avoiding cold and by doing warm-up exercises. In selected patients, dilantin, quinidine, procainamide, myxilitene, diamox, and other drugs reduce myotonia modestly.
Periodic ophthalmoscopy is needed to assess posterior capsular cataracts, which may require extraction if vision is impaired significantly--rarely before the third or fourth decade. If tarsorrhaphy is undertaken for repair of ptosis, care must be taken not to overcorrect lest failure of eyelid closure lead to corneal abrasion.
Dysfunction of sex hormones does not cause infertility. Obstetric difficulties are common. Hypomotility of the intestinal tract is not infrequent but usually does not require treatment. Dysphagia is usually manageable with conservative dietary measures. Schwindt et al. (1969) claimed that 25 to 50% of patients have abdominal symptoms due to cholelithiasis. Brunner et al. (1992) described 4 DM patients with recurrent intestinal pseudoobstruction. In 1 patient it preceded significant muscle weakness by 15 years. Conservative measures usually were effective. Improved intestinal function was noted in 1 patient treated with the prokinetic agent cisapride. A partial sigmoid resection was performed in 3 patients with dolichomegacolon.
Keller et al. (1998) stated that respiratory insufficiency at birth was the most critical factor for the survival of patients with congenital myotonic dystrophy. They reported 2 premature infants with congenital myotonic dystrophy requiring prolonged ventilatory support who were successfully weaned using nasal continuous positive airway pressure.
In 15 patients with genetically confirmed DM1, Logigian et al. (2004) used a device to measure the relaxation time of the first dorsal interosseus muscle after ulnar nerve twitch and tetanic stimulation. Compared to controls, tetanic and twitch relaxation time was longer in patients, mainly due to delay in the terminal (measured as 50 to 5% peak force), rather than the initial (90 to 50% peak force), phase of relaxation. The delay in relaxation was much greater in tetanic than single-twitch recordings, and both were positively correlated with leukocyte DMPK (605377) CTG repeat length, suggesting a triplet repeat toxic dosage effect. Logigian et al. (2004) suggested that quantitative analysis of muscle myotonia may be used to follow the natural history of the disease and to assess response to therapeutic intervention.
Orngreen et al. (2005) found that 12 patients with myotonic dystrophy responded well to a 12-week program of aerobic training on a cycle ergometer. The patients increased maximal oxygen uptake by 14% and maximal workload by 12%. There was an increase in muscle fiber diameter without an increase in serum creatine kinase. The authors concluded that aerobic training is safe and effective for improving fitness in myotonic dystrophy patients.
The expanded (CTG)n tract in the 3-prime untranslated region (UTR) of the DMPK gene results in nuclear entrapment of the 'toxic' mutant RNA and interacting RNA-binding proteins such as MBNL1 (606516) in ribonuclear inclusions. It had been suggested that therapy aimed at eliminating the toxin would be beneficial. Timchenko (2006) commented on the study of Mahadevan et al. (2006) in transgenic mice showing that normalizing the number of CUG repeat-containing DMPK transcripts reversed the myotonia and cardiac conduction defects in the mouse model. Developing an approach to reduce CUG repeats might be a viable therapeutic strategy. An alternative approach would be to learn how to control CUGBP1 (601074) RNA-binding activity in order to reduce its toxicity. The results of Mahadevan et al. (2006) represented the first in vivo proof of principle for a therapeutic strategy for treatment of myotonic dystrophy by ablating or silencing expression of the toxic RNA molecules.
Wheeler et al. (2009) used a transgenic mouse model to show that derangements of myotonic dystrophy are reversed by a morpholino antisense oligonucleotide, CAG25, that binds to CUG(exp) RNA and blocks its interaction with MBNL1, a CUG(exp)-binding protein. CAG25 disperses nuclear foci of CUG(exp) RNA and reduces the overall burden of this toxic RNA. As MBNL1 is released from sequestration, the defect of alternative splicing regulation is corrected, thereby restoring ion channel function. Wheeler et al. (2009) concluded that their findings suggested an alternative use of antisense methods, to inhibit deleterious interactions of proteins with pathogenic RNAs.
Mulders et al. (2009) identified a CAG(7) antisense oligonucleotide that silenced mutant DMPK RNA expression and reduced the number of ribonuclear aggregates in a (CUG)n-length-dependent manner in both mouse and human DM1 cells. Direct administration of this oligonucleotide in muscle of DM1 mice in vivo caused a significant reduction in the level of toxic (CUG)n RNA and showed a normalizing effect on aberrant pre-mRNA splicing. The data demonstrated proof of principle for therapeutic use of simple sequence antisense oligonucleotides in DM1 and potentially other unstable microsatellite diseases.
Logigian et al. (2010) found that treatment of DM1 patients with mexiletine resulted in a significant reduction in grip relaxation time without major side effects or EKG conduction abnormalities. The study involved 2 parts, each with 20 patients taking 150 or 200 mg 3 times daily, respectively, over 7 weeks. Mexiletine is a lidocaine analog that acts as a sodium-channel blocker in skeletal and cardiac muscle.
Population Genetics
The overall prevalence of DM1 is estimated to be 1 in 8,000 (Musova et al., 2009).
In the Saguenay region of the province of Quebec, the prevalence of myotonic dystrophy is about 1 in 475; about 600 cases are known in a population of 285,000. Mathieu et al. (1990) estimated that the prevalence of myotonic dystrophy in the Saguenay-Lac-Saint-Jean region of Quebec province is 30 to 60 times higher than the prevalence in most other regions of the world. They identified 746 patients (673 still alive) distributed in 88 families in this region, and traced all patients to a couple who settled in New France in 1657. De Braekeleer (1991) estimated the prevalence of myotonic dystrophy in the French Canadian population in the Saguenay-Lac-Saint-Jean region of Quebec province at more than 1/514, as contrasted with the estimate of 1/25,000 for European populations generally. Dao et al. (1992) found no differences in fertility in myotonic dystrophy individuals in the Saguenay-Lac-Saint-Jean region in a case-control study of 373 affected persons who married between 1855 and 1971.
Bouchard et al. (1988) reviewed the genetic demography of the disorder. They were unable to demonstrate the selective disadvantage of the DM gene. Ashizawa and Epstein (1991) claimed that DM among ethnic Africans, especially in central and southern Africa, as well as in Cantonese, Thai, and probably Oceanians, has a low prevalence. In their survey they used Duchenne muscular dystrophy as a control and found that it had an incidence similar to that in western nations. They suggested that the findings are consistent with the evolution and migration of the human species from Africa. Novelli et al. (1994) found a low frequency of the 'at risk' CTG alleles (n = repeat number less than 19), postulated to be the basis of the expanded repeats causing myotonic dystrophy, in Albanians, Egyptians, and Italians, whereas they did not detect alleles of this sort in any chromosomes of the Bamilekes, a Bantu-speaking people from central and southern Cameroon. They interpreted the findings as consistent with the low frequency reported by Ashizawa and Epstein (1991) and provided a molecular basis supporting a north Eurasian origin of the DM mutation.
Harley et al. (1991) found linkage disequilibrium between DM and the D19S63 marker, the first demonstration of this phenomenon in a heterogeneous DM population. The results suggested that at least 58% of DM patients in the British population, as well as those in a French Canadian population, are descended from the same ancestral DM mutation. The result was considered entirely consistent with previous population studies which indicated a very low mutation rate in DM (Harper, 1989). (Harley et al. (1992) stated that no case of mutation had been proven.) The DM mutation in the French Canadian population (Mathieu et al., 1990) appears to have been introduced into Quebec province by one of the original founders over 300 years ago and may have originated in northern Europe before the spread of this population to the British Isles. The remaining 42% of DM chromosomes may include some that have the same mutation (which has become associated with different D19S63 alleles through recombination) together with one or more other DM mutations. Although linkage disequilibrium with other closely linked markers--APOC2 (608083), CKM (123310), and BCL3 (109560)--was not observed in the Welsh population, strong disequilibrium was observed in the French Canadian population.
Goldman et al. (1995) studied the association between normal alleles at the CTG repeat in 2 nearby polymorphisms in the myotonin protein kinase gene in South African Negroids, a population in which myotonic dystrophy had not been described. They found a significantly different CTG allelic distribution from that in Caucasoids and Japanese: CTG repeat lengths greater than 19 were very rare. The striking linkage disequilibrium between specific alleles at the Alu insertion/deletion polymorphism, the HinfI polymorphism of intron 9, and the CTG repeat polymorphism seen in Caucasoids in Europe and Canada was also found in the South African Negroid population. Goldman et al. (1995), however, found numerous haplotypes not previously described in Europeans. Thus it seemed likely that only a small number of these 'African' chromosomes were present in the progenitors of all non-African peoples. The data provided support for the 'out of Africa' model for the origin of modern humans and suggested that the rare ancestral DM mutation event may have occurred after the migration from Africa, thus accounting for the absence of DM in sub-Saharan Negroid peoples. Goldman et al. (1996) reported molecular evidence for a DM founder effect in South African families. DM haplotype I was found in the South African DM population and rarely in the non-DM population. Goldman et al. (1996) noted that both the geographic distribution of families with DM (occurrence primarily in Afrikaans-speaking families who originated in the Northern Transvaal) and a previous genealogic study by Lotz and van der Meyden (1985) also suggested a founder effect as the likely explanation for the high prevalence of DM. Lotz and van der Meyden (1985) found no single case of DM in an indigenous Negroid or Khoisan person from southern Africa, despite a survey representing a population of more than 30 million (Ashizawa and Epstein, 1991).
Harley et al. (1992) found that a second polymorphism near the triplet repeat was in almost complete linkage disequilibrium with myotonic dystrophy, strongly supporting these earlier results (Harley et al., 1991) that indicated that most cases are descended from one original mutation. Cobo et al. (1992) found that DM and D19S63 showed linkage disequilibrium in the Spanish population also. They studied 33 Spanish families from 5 different geographic regions.
Passos-Bueno et al. (1995) found a relatively low frequency of DM families of black racial background in Brazil. Three of 41 DM families were of that ancestry in the city of Sao Paulo in which 40% of the population was black. The authors thought that bias in ascertainment could not be the explanation.
In 72 French families, Lavedan et al. (1994) found that 100% of chromosomes with the DM mutation carried an intragenic 1-kb insertion. They also detected significant linkage disequilibrium between the DM locus and D19S63 for which allelic frequencies were different from other European populations. The results were consistent with the hypothesis that the CTG expansion occurred on one or a few ancestral chromosomes carrying the large 1-kb insertion allele.
Goldman et al. (1996) studied the CTG trinucleotide repeat in the DMK gene by PCR analysis in 246 unrelated South African Bantu-speaking Negroids, 116 San and 27 Pygmies. The size and distribution of the CTG repeat were determined and showed that the alleles ranged in length from 5 to 22 repeats. The most common CTG repeat was 5 (25% of chromosomes) in the South African Negroids but 11 (27% of chromosomes) in the San population, and 12 (22% of chromosomes) in the Pygmies. The South African Bantu-speaking Negroids and San thus had significantly larger repeat length alleles than do Caucasoid and Japanese populations. Again, Goldman et al. (1996) concluded that the occurrence of fewer large CTG repeats in the normal range accounts for the absence of DM from Southern African Negroids and suggests that the rare DM mutation event postulated to have occurred on a specific chromosomal haplotype took place originated after the migration of humans from Africa.
Deka et al. (1996) analyzed the CTG repeat length and the neighboring Alu insertion/deletion (+/-) polymorphism in DNA samples from 16 ethnically and geographically diverse human populations. They found that the CTG repeat length is variable in human populations. Although the (CTG)5 repeat is the most common allele in most populations, it was absent among Costa Ricans and New Guinea highlanders. They detected a (CTG)4 repeat allele, the smallest CTG known, in an American Samoan individual. Alleles with 19 or more CTG repeats were the most frequent in Europeans, followed by the populations of Asian origin, and are absent or rare in Africans. To understand the evolution of CTG repeats, Deka et al. (1996) used haplotype data from the CTG repeat and Alu(+/-) locus. The results were consistent with previous studies and showed that among individuals of Caucasian and Japanese origin the association of the Alu(+) allele with CTG repeats of 5 and at least 19 is complete, whereas the Alu(-) allele is associated with (CTG)11-16 repeats. However, these associations are not exclusive in non-Caucasian populations. Most significantly, Deka et al. (1996) detected the (CTG)5 repeat allele on an Alu(-) background in several populations including native Africans. As no (CTG)5 repeat allele on an Alu(-) background had been observed hitherto, they proposed that the Alu(-) allele arose on a (CTG)11-13 background. They suggested further that the most parsimonious evolutionary model is (1) that (CTG)5-Alu(+) is the ancestral haplotype; (2) that (CTG)5-Alu(-) arose from a (CTG)5-Alu(+) chromosome later in evolution; and (3) that expansion of CTG alleles occurred from (CTG)5 alleles on both Alu(+) and Alu(-) backgrounds.
Tishkoff et al. (1998) studied the origin of myotonic dystrophy mutations by analyzing haplotypes consisting of the (CTG)n repeat, as well as several flanking markers at the myotonic dystrophy locus, in normal individuals from 25 human populations (5 African, 2 Middle Eastern, 3 European, 6 East Asian, 3 Pacific/Australo-Melanesian, and 6 Amerindian) and in 5 nonhuman primate species. They found that non-African populations had a subset of haplotype diversity present in Africa, as well as a shared pattern of allelic association. (CTG)18-35 alleles (large normal) were observed only in northeastern African and non-African populations and exhibited strong linkage disequilibrium with 3 markers flanking the (CTG)n repeat. The pattern of haplotype diversity and linkage disequilibrium observed supported a recent African-origin model of modern human evolution and suggested that the original mutational event that gave rise to DM-causing alleles arose in a population ancestral to non-Africans before migration of modern humans out of Africa.
Neville et al. (1994) performed a high-resolution genetic analysis of the DM locus using PCR-based assays of 9 polymorphisms immediately flanking the DM repeat. With the exception of the case reported from Africa by Krahe et al. (1995), all cases of DM in the world appear to share a single haplotype that contains putative at-risk CTG alleles, i.e., alleles with 19 to 30 CTG repeats that may serve as a reservoir for recurrent mutations to unstable alleles with 30 to 50 repeats (Imbert et al., 1993). Yamagata et al. (1998) found 6 different haplotypes in the Japanese population and determined that DM alleles were always haplotype A (in the nomenclature of Neville et al., 1994), the same as in Caucasians. In both Caucasian and Japanese populations, a multistep process of triplet repeat expansion originated by expansion of an ancestral n = 5 repeats to n = 19 to 37 copies. A similar multistep model has been suggested for Friedreich ataxia (229300).
Pan et al. (2001) described a low frequency (1.4%) of CTG repeats (larger than 18 repeats) in the Taiwanese population, predicting a low prevalence of DM1. As in Caucasian and Japanese populations, all of the Taiwanese DM1 chromosomes examined were exclusively associated with the Alu insertion and 7 additional single base polymorphic markers (haplotype A). The findings suggested that the Taiwanese, and maybe all non-African, DM1 chromosomes may have originated from a pool of large-sized normal alleles with haplotype A, which was generated after the migration out of Africa.
Siciliano et al. (2001) calculated the DM prevalence rates in Padua (northeast Italy) and in 4 provinces in northwest Tuscany (central Italy) using molecular genetic testing. A minimum prevalence rate of 9.31 x 10(-5) persons was found, consistent with epidemiologic rates worldwide, and more than 2 times the size of those of 2 previous studies conducted in the same areas during the era before molecular genetic testing. The results underlined the importance of direct genetic diagnosis of DM, especially in detecting mildly affected patients.
In a comprehensive epidemiologic survey among Jews living in Israel, Segel et al. (2003) found that the average prevalence of DM was 15.7 per 100,000 (1 case in 6,369), with intercommunity variations: Ashkenazi Jews had the lowest rate (1 case in 17,544) as compared to those in Sephardi/Oriental Jews and Yemeni Jews (1 case in 5,000 and 1 case in 2,114, respectively). The rate of unrelated DM sibships per million persons of each community was used as an estimate of the transition rate from stable to unstable DMPK-(CTG)n alleles assuming that each transition is a beginning of a new DM sibship. This study indicated that the difference in the incidence of DM is a result of higher mutation rate in the non-Ashkenazi Jews as compared to the rate in the Ashkenazi Jews. The intragenic haplotype of the DM alleles was the same as that in DM patients in many populations worldwide; however, 2 markers closely linked to DM, D19S207 and D19S112, were in linkage disequilibrium with the DM mutation in patients of Yemeni and Moroccan (the largest subgroup of the Sephardi Jews) extractions but not in the Ashkenazi patients. This observation indicated a common ancestral origin for the DM premutation in patients of the same ethnic origin. Segel et al. (2003) concluded that the difference in DM prevalence among the Jewish communities is a consequence of founder premutations in the non-Ashkenazi Jewish communities.
Yotova et al. (2005) used SNP and microsatellite markers to characterize a 2.05-Mb DNA segment spanning the DM1-expansion site in 50 DM1 families from northeastern Quebec. The results suggested the existence of 3 basic haplotype families, A, B, and C, with A being the most common. By analyzing proportions of recombinant haplotypes, Yotova et al. (2005) estimated that haplotype A was the 'driver' founder effect, with an age of 9 generations, consistent with the settlement of Charlevoix at the turn of the 17th century and subsequent colonization of Saguenay-Lac-Saint-Jean. The minor haplotypes B and C were likely introduced independently.
Medica et al. (2007) found that 4 (1.46%) of 274 unrelated adults with cataract, but no evidence or family history of DM1, carried a 'protomutation' in the DMPK gene ranging between 52 and 81 CTG repeats. The authors hypothesized that these patients with protomutations represented a source of full expansion mutation, which could be responsible for maintaining DM1 mutations in a population. Stable transmission to an unaffected offspring was observed in 1 individual with a protomutation. Three of the patients were from the Croatian region of Istria, which has a high prevalence of DM1.
Acton et al. (2007) reported 2 African American brothers from Alabama who had DM1, both with CTG repeats of 5/639; their father was reportedly affected and had CTG repeats of 5/60. Other unaffected family members had CTG repeats of 5 to 14. Another unrelated African American patient from Alabama had CTG repeats of 27/191. Among 161 African American controls from Alabama, the authors observed 18 CTG alleles from 5 to 28 repeats. A comparison with other ethnic groups showed that the African American individuals from Alabama had more CTG repeats than some African black populations, but fewer than European white or Japanese populations. These data suggested that the risk for DM1 in American blacks is intermediate between that of African blacks and whites of European descent.
Suominen et al. (2011) found 2 DM1 mutations among 4,520 Finnish control individuals and no DM1 mutations among 988 Finnish patients with a neuromuscular disorder. One of the expanded DM1 mutations had 80 repeats, but the size of the other expansion could not be determined. Overall, the DM1 mutation frequency was estimated to be 1 in 2,760 in the general population. In the same study, the frequency of DM2 was estimated to be 1 in 1,830. Suominen et al. (2011) stated that these estimates were significantly higher than previously reported estimates, which they cited as 1 in 8,000 for both DM1 and DM2.
Animal Model
Jansen et al. (1996) examined the effect of altered expression levels of DMPK by disrupting the endogenous Dmpk gene and overexpressing a normal human DMPK transgene in mice. They carried out an analysis of Dmpk gene expression by performing RNA in situ hybridization on whole-mount embryos and body sections of embryos to identify cell lineages that could potentially be affected by abnormal expression of DMPK. Jansen et al. (1996) reported that the results of nullizygous replacement mutations in Dmpk are extremely mild during all phases of mouse development and aging; the only change they noted was marginally altered muscle fiber size in muscles of the head and neck. The only histologic abnormality shown in the over-expressor model was transgene copy number-dependent cardiomyopathy. In these models other prominent features of myotonic dystrophy were lacking. They concluded that simple loss or gain of expression of DMPK was probably not the only crucial requirement for development of myotonic dystrophy.
Benders et al. (1997) studied the role of DMPK in myocyte ion homeostasis in wildtype and homozygous DMPK knockout mice generated by Jansen et al. (1996). Myotubes of knockout mice exhibited a higher resting intracellular calcium concentration than did myotubes of wildtype mice because of an altered open probability of voltage-dependent L-type calcium and sodium channels. Benders et al. (1997) observed smaller and slower calcium responses in myotubes of knockout, as compared to wildtype, mice after triggering with either acetylcholine or high external potassium.
Calcium flux was partially mediated by influx of extracellular calcium through the L-type calcium channel. Neither the content nor the activity of the sodium/potassium ATPase or the sarcoplasmic reticulum calcium ATPase were affected by the absence of DMPK. Benders et al. (1997) suggested that DMPK is involved in modulating the initial events in excitation-contraction coupling in skeletal muscle.
To ascertain if some or all of the symptoms of DM are the consequences of reduced levels of DMPK, Reddy et al. (1996) developed a strain of mice that carry a targeted disruption of the Dmpk gene. Analysis of skeletal muscle structure and function showed that Dmpk -/- mice develop a late-onset progressive skeletal myopathy characterized by decreased force generation, increased fiber degeneration and regeneration, and loss of sarcomeric organization. These changes occurred in mice between 3 and 7 months of age. Reddy et al. (1996) suggested that DMPK may be necessary for the maintenance of skeletal muscle structure and that a decrease in DMPK levels may contribute to DM pathology.
Gourdon et al. (1997) and Monckton et al. (1997) independently studied the behavior of the myotonic dystrophy CTG repeat in transgenic mice. Monckton et al. (1997) generated transgenic mouse lines that transmit a fragment of the human DM kinase gene, a 3-prime UTR-containing construct initially containing 162 CTG repeats. Gourdon et al. (1997) used a much larger genomic fragment (about 45 kb) as a transgene, originally derived from the DNA for a DM patient with 55 CTG repeats in the mutant allele. This cosmid clone not only housed the entire DM gene, but also contained sequences corresponding to the 2 genes immediately flanking the DM kinase gene. Both studies clearly documented intergenerational and somatic cell instability of the trinucleotide repeat in the transgenic mice.
Lia et al. (1998) studied somatic instability by measuring the CTG repeat length at several ages in various tissues of transgenic mice carrying a (CTG)55 expansion surrounded by 45 kb of the human DM region. These mice had been shown to reproduce the intergenerational and somatic instability of the 55 CTG repeat, suggesting that surrounding sequences and the chromatin environment are involved in instability mechanisms. As observed in some of the tissues of DM patients, there was a tendency for repeat length and somatic mosaicism to increase with the age of the mouse. Furthermore, Lia et al. (1998) observed no correlation between the somatic mutation rate and tissue proliferation capacity. Somatic mutation rates in different tissues were also not correlated to the relative intertissue differences in transcriptional levels of the 3 genes that surround the repeat: DMAHP (600963), DMPK, and 59. Similar studies by Seznec et al. (2000) with transgenic mice carrying greater than 300 CTG repeats demonstrated a strong bias towards expansions (vs contractions), similar sex- and size-dependent expansion characteristics as in humans, and a high level of instability (increasing with age) in tissues and in sperm.
Klesert et al. (2000) and Sarkar et al. (2000) independently developed mice with targeted disruption of the Six5 gene. Both animal models developed cataracts, leading Klesert et al. (2000) and Sarkar et al. (2000) to conclude that myotonic dystrophy represents a contiguous gene syndrome involving deficiency of both SIX5 and DMPK.
The CTG expansion causing DM results in transcriptional silencing of the flanking SIX5 allele. Sarkar et al. (2004) generated Six5 knockout and heterozygous mice by targeted disruption and demonstrated a strict requirement of Six5 for both spermatogenic cell survival and spermiogenesis. Leydig cell hyperproliferation and increased intratesticular testosterone levels were observed in the Six5 -/- mice. Although increased FSH (see 136530) levels were observed in the Six5 +/- and Six5 -/- mice, serum testosterone levels and intratesticular inhibin alpha (INHA; 147380) and inhibin beta-B (INHBB; 147390) levels were not altered in the Six5 mutant animals when compared with controls. Steady-state c-Kit (164920) levels were reduced in the Six5 -/- testis. The authors concluded that decreased c-Kit levels could contribute to the elevated spermatogenic cell apoptosis and Leydig cell hyperproliferation in the Six5 -/- mice. They hypothesized that the reduced SIX5 levels may contribute to the male reproductive defects in DM1.
Dmpk knockout mice show only mild muscle weakness and abnormal cardiac conduction; Six5 knockout mice develop cataracts only; neither mouse model develops myotonia. Mankodi et al. (2000) investigated the possibility that the pathogenic effect of the DM mutation is mediated by the mutant mRNA, i.e., that the nuclear accumulation of expanded CUG repeats is toxic to muscle fibers. They developed transgenic mice that express human skeletal actin (ACTA1; 102610) with either a nonexpanded (5-CTG) or an expanded (approximately 250-CTG) repeat in the final exon of the ACTA1 gene, midway between the termination codon and the polyadenylation site. Mice that expressed the expanded repeat developed myotonia and myopathy, whereas mice expressing the nonexpanded repeat did not. Thus, transcripts with expanded CUG repeats are sufficient to generate a DM phenotype. Mankodi et al. (2000) concluded that these results support a role for RNA gain of function in disease pathogenesis.
Mounsey et al. (2000) measured macroscopic and single channel sodium currents from cell-attached patches of skeletal myocytes from heterozygous (DMPK +/-) and homozygous (DMPK -/-) mice. In DMPK -/- myocytes, sodium current amplitude was reduced because of reduced channel number. Single channel recordings revealed sodium channel reopenings, similar to the gating abnormality of human myotonic muscular dystrophy, which resulted in a plateau of sodium current. The gating abnormality deteriorated with increasing age. In DMPK +/- muscle there was reduced sodium current amplitude and increased sodium channel reopenings identical to those in DMPK -/- muscle. The authors hypothesized that DMPK deficiency underlies the sodium channel abnormality in DM.
In tissues cultured from Dmt mice, Gomes-Pereira et al. (2001) noted the progressive accumulation of larger alleles as a result of repeat length changes in vitro, as confirmed by single cell cloning. The authors also observed the selection of cells carrying longer repeats during the first few passages of the cultures and frequent additional selective sweeps at later stages. The highest levels of instability were observed in cultured kidney cells, whereas the transgene remained relatively stable in eye cells and very stable in lung cells, paralleling the previous in vivo observations. No correlation between repeat instability and the cell proliferation rate was found, rejecting a simple association between length change mutations and cell division, and suggesting a role for additional cell-type specific factors.
Kanadia et al. (2003) found that mice with targeted deletion of exon 3 of the Mbnl1 gene (606516) developed overt myotonia with myotonic discharges on EMG at approximately 6 weeks of age. In addition to muscle abnormalities, the mice also developed ocular cataracts similar to DM1. These mice showed decreased expression and abnormal splicing of Clcn1, Tnnt2, and Tnnt3 (600692). Kanadia et al. (2003) concluded that Mbnl1 plays a direct role in splice site selection of different proteins and that manifestations of DM1 can result from sequestration of specific RNA-binding proteins.
In Mbnl1-deficient Drosophila embryos, Machuca-Tzili et al. (2006) found abnormal splicing of the Z-band associated proteins CG30084, which is the Drosophila homolog of ZASP/LDB3 (605906), and alpha-actinin. Studies of skeletal muscle tissue from 3 unrelated DM1 patients showed abnormal splicing of LDB3 but normal splicing of alpha-actinin-2 (ACTN2; 102573). The findings suggested that the molecular breakdown of Z-band structures in flies and DM1 patients may involve the MBNL1 gene.
Wang et al. (2007) generated an inducible and heart-specific mouse model of DM1 that expressed expanded human DMPK CUG-repeat RNA and recapitulated pathologic features of the human disorder, including dilated cardiomyopathy, arrhythmias, and systolic and diastolic dysfunction. The mice also showed misregulation of developmental alternative splicing transitions, including the Tnnt2 and Fxr1 (600819) genes. All died of heart failure within 2 weeks. Immunohistochemical studies showed increased CUGBP1 protein levels specifically in nuclei containing foci of DMPK CUG-repeat RNA. A time-course study showed that increased CUGBP1 cooccurred within hours of induced expression of the CUG repeat and coincided with reversion to embryonic splicing patterns. The results indicated that increased CUGBP1 is a specific and early event of DM1 pathogenesis and represents a primary response to expression of DMPK CUG-repeat mutant RNA.
Wheeler et al. (2007) reported that an antisense oligonucleotide targeting the 3-prime splice site of exon 7a of the Clc1 gene (CLCN1; 118425) reversed the defect of Clc1 alternative splicing in 2 mouse models of DM. By repressing the inclusion of this exon, the treatment restored the full-length reading frame of Clc1 mRNA, upregulated Clc1 expression, normalized Clc1 current density, and eliminated myotonic discharges. The findings supported the hypothesis that myotonia and chloride channelopathy observed in DM results from abnormal alternative splicing of CLC1.
Osborne et al. (2009) performed global mRNA profiling in transgenic mice that expressed CUG(exp) RNA, when compared with Mbnl1-knockout mice. The majority of changes induced by CUG(exp) RNA in skeletal muscle could be explained by reduced activity of Mbnl1, including many changes that are secondary to myotonia. The pathway most affected comprised genes involved in calcium signaling and homeostasis. Some effects of CUG(exp) RNA on gene expression were caused by abnormal alternative splicing or downregulation of Mbnl1-interacting mRNAs. However, several of the most highly dysregulated genes showed altered transcription, as indicated by parallel changes of the corresponding pre-mRNAs. Osborne et al. (2009) proposed that transdominant effects of CUG(exp) RNA on gene expression in this transgenic mouse model may occur at the level of transcription, RNA processing, and mRNA decay, and may be mediated mainly, but not entirely, through sequestration of Mbnl1.
Koshelev et al. (2010) expressed human CUGBP1 in adult mouse heart. Upregulation of CUGBP1 was sufficient to reproduce molecular, histopathologic, and functional changes observed in a DM1 mouse model that expressed expanded CUG RNA repeats (Wang et al., 2007) as well as in individuals with DM1. The authors concluded that CUGBP1 upregulation plays an important role in DM1 pathogenesis.
By inducing expression of human CUGBP1 in adult skeletal muscle of transgenic mice, Ward et al. (2010) showed that the pathogenic features of DM1 could be explained by upregulated CUGBP1 expression. Within weeks of induction of CUGBP1 expression, transgenic mice exhibited impaired movement, reduced muscle function, abnormal gait, and reduced total body weight compared with uninduced controls. Histologic analysis of transgenic muscle overexpressing CUGBP1 revealed centrally located nuclei, myofiber degeneration with inflammatory infiltrate, and pyknotic nuclear clumps. RT-PCR analysis revealed reversion to embryonic splicing patterns in several genes in transgenic muscle overexpressing CUGBP1. Ward et al. (2010) concluded that CUGBP1 has a major role in DM1 skeletal muscle pathogenesis.
Wheeler et al. (2012) showed that nuclear-retained transcripts containing expanded CUG repeats are unusually sensitive to antisense silencing. In a transgenic mouse model of DM1, systemic administration of antisense oligonucleotides caused a rapid knockdown of CUG expansion RNA in skeletal muscle, correcting the physiologic, histopathologic, and transcriptomic features of the disease. The effect was sustained for up to 1 year after treatment was discontinued. Systemically administered ASOs were also effective for muscle knockdown of Malat1 (607924), a long noncoding RNA that is retained in the nucleus. Wheeler et al. (2012) concluded that their results provided a general strategy to correct RNA gain-of-function effects and to modulate the expression of expanded repeats, long noncoding RNAs, and other transcripts with prolonged nuclear residence.
History
Anticipation--earlier onset and more severe manifestations in more recent generations--was described in myotonic dystrophy as a rather striking feature. Penrose (1948) concluded that it is probably an artifact of ascertainment. However, elucidation of the molecular defect (see above) indicates that the mutation can worsen progressively in successive generations. Julia Bell, in her extensive compilation of myotonic dystrophy families, noted the phenomenon, which she referred to as 'antedating.' The data of Bell (1947) were used by Penrose (1948) in his analysis. Both Bell and Penrose were aware of a low parent-child correlation. Penrose's conclusion was that anticipation was apparent rather than real and did not require a novel biologic explanation. He failed to consider the possibility that low parent-child correlation might itself be the result of anticipation.
In the days long before the gene was identified, it was feasible to perform amniocentesis in selected families to determine secretor status of the fetus and thereby predict inheritance of the allele for myotonic dystrophy based upon the DM-Se linkage. The affected spouse had to be heterozygous at the secretor locus and the linkage phase between DM and Se must be established; the unaffected spouse must not be homozygous secretor-positive. It is best if that spouse is secretor-negative, but useful information for counseling could be obtained if he is heterozygous for secretor. In some cases the secretor phenotype of the fetus could establish the genotype in the parents. Finally, recombination between DM and Se introduced a degree of uncertainty into the counseling (Schrott et al., 1973).
Caughey and Myrianthopoulos (1963) provided a monograph covering all aspects of myotonic dystrophy. Caughey and Myrianthopoulos (1991) privately published a second edition. The frontispiece is a Greek stamp commemorating Prince Ypsilante, a hero of Greek liberation who, along with his brother, was thought on good evidence to have had myotonic dystrophy.
Cattaino and Vicario (1999) suggested that Amenhotep IV, better known as Akhenaten, the heretical pharaoh, a king of the New Kingdom of Ancient Egypt, had myotonic dystrophy. Statues and reliefs of him showed abnormal features. He died at the age of about 36 years, without a male heir, although he had had 6 daughters by his principal wife. Perhaps because of religious reform, figurative art abandoned the classic style that had been almost immutable over the centuries and had imposed an idealized representation of the pharaoh, always vigorous and physically fit, with regular facial features showing an attitude of seraphic superiority. Surviving images from the time of Akhenaten are very different and have a realism never before seen in Ancient Egypt. Statues of Akhenaten show a long face, with thin and hollow cheeks, a half-open mouth, and lowered eyelids. Others had commented that the extremely long and thin neck reminded them of 'a swan's neck.' One statue shows gynecomastia and small genitals. Several reliefs demonstrate distal hypotrophy of the lower limbs with features of an upside-down bottle, or, as defined by Aldred (1988), of knickerbockers.
Tramonte and Burns (2005) reviewed early descriptions of myotonic dystrophy.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Cataract CARDIOVASCULAR Heart \- Atrial arrhythmias \- Heart block \- EKG abnormalities ABDOMEN Biliary Tract \- Cholelithiasis Gastrointestinal \- Recurrent intestinal pseudoobstruction \- Dysphagia \- Poor feeding (congenital form) GENITOURINARY Internal Genitalia (Male) \- Hypogonadism \- Testicular atrophy Internal Genitalia (Female) \- Uncoordinated uterine contraction SKIN, NAILS, & HAIR Hair \- Frontal balding (male pattern baldness) MUSCLE, SOFT TISSUES \- Myotonia (delayed muscle relaxation after contraction) \- Weakness \- Electromyography shows myotonic discharges \- Wasting, especially temporal, neck, and facial muscles \- Respiratory distress (congenital form) \- Bilateral facial weakness (congenital form) \- Absence of myotonia in infancy (congenital form) NEUROLOGIC Central Nervous System \- Mild cognitive deterioration in adults \- Speech disability \- Excessive daytime sleepiness \- Reduced sleep latency \- Sleep-onset REM \- Hypotonia (congenital form) \- Severe mental retardation (congenital form) \- Poor feeding (congenital form form) \- Subcortical white matter lesions in the temporal lobes seen on brain MRI \- Cerebral atrophy \- Ossification of the faux cerebri (less common) \- Thickening of the skull (less common) Behavioral Psychiatric Manifestations \- Avoidant personality traits \- Obsessive-compulsive traits \- Passive-aggressive traits PRENATAL MANIFESTATIONS Movement \- Reduced fetal movements (congenital form) Amniotic Fluid \- Polyhydramnios (congenital form) MISCELLANEOUS \- Genetic anticipation occurs \- Prevalence of in 1 in 8,000 \- Normal - 5 to 37 copies of (CTG)n repeat in DMPK ( 605377 ) \- Affected, Mild - 50-150 repeats \- Adult Onset - 100-1,000 repeats \- Congenital - over 2,000 repeats \- Negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time) MOLECULAR BASIS \- Caused by a trinucleotide repeat expansion (CTG)n in the dystrophia myotonica-protein kinase gene (DMPK, 605377.0001 ) ▲ Close
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
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*[SUI]: Switzerland
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*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
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*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| MYOTONIC DYSTROPHY 1 | c3250443 | 29,667 | omim | https://www.omim.org/entry/160900 | 2019-09-22T16:37:42 | {"doid": ["11722"], "mesh": ["C538008"], "omim": ["160900"], "orphanet": ["273"], "synonyms": ["DM1", "DYSTROPHIA MYOTONICA 1", "STEINERT DISEASE", "Steinert disease", "Alternative titles", "DYSTROPHIA MYOTONICA", "Myotonic dystrophy type 1", "MD1"], "genereviews": ["NBK1165"]} |
Rare human genetic lysosomal storage disorder
Fabry disease
Other namesFabry's disease, Anderson–Fabry disease, angiokeratoma corporis diffusum, alpha-galactosidase A deficiency
Alpha galactosidase \- the deficient protein in Fabry disease
Pronunciation
* /ˈfɑːbri/
SpecialtyEndocrinology, cardiology, nephrology, dermatology
ComplicationsHeart failure, abnormal heart rhythms
Usual onsetChildhood
CausesGenetic
Diagnostic methodEnzyme activity assay, genetic testing
Differential diagnosisHypertrophic cardiomyopathy
TreatmentEnzyme replacement
Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, and skin.[1] Fabry disease is one of a group of conditions known as lysosomal storage diseases. The genetic mutation that causes Fabry disease interferes with the function of an enzyme that processes biomolecules known as sphingolipids, leading to these substances building up in the walls of blood vessels and other organs. It is inherited in an X-linked manner.
Fabry disease is sometimes diagnosed using a blood test that measures the activity of the affected enzyme called alpha-galactosidase, but genetic testing is also sometimes used, particularly in females.
The treatment for Fabry disease varies depending on the organs affected by the condition, and the underlying cause can be addressed by replacing the enzyme that is lacking.
The first descriptions of the condition were made simultaneously by dermatologist Johannes Fabry[2] and the surgeon William Anderson[3] in 1898.[4]
## Contents
* 1 Signs and symptoms
* 1.1 Pain
* 1.2 Kidney
* 1.3 Heart
* 1.4 Skin
* 1.5 Other manifestations
* 2 Causes
* 3 Mechanism/pathophysiology
* 4 Diagnosis
* 5 Treatment
* 5.1 Enzyme replacement therapy
* 5.2 Organ-specific treatment
* 6 Clinical trials
* 7 Prognosis
* 8 Epidemiology
* 9 History
* 10 Society and culture
* 11 See also
* 12 References
* 12.1 Further reading
* 13 External links
## Signs and symptoms[edit]
A bilateral, whorl-like corneal pattern of cream-colored lines in a person with Fabry disease
Angiokeratoma, a common skin manifestation in Fabry disease
Symptoms are typically first experienced in early childhood and can be very difficult to understand; the rarity of Fabry disease to many clinicians sometimes leads to misdiagnoses. Manifestations of the disease usually increase in number and severity as an individual ages.[5]
### Pain[edit]
Full-body or localized pain to the extremities (known as acroparesthesia) or gastrointestinal (GI) tract is common in patients with Fabry disease. This pain can increase over time. This acroparesthesia is believed to be related to the damage of peripheral nerve fibers that transmit pain. GI-tract pain is likely caused by accumulation of lipids in the small vasculature of the GI tract, which obstructs blood flow and causes pain.[6]
### Kidney[edit]
Kidney complications are common and serious effects of the disease; chronic kidney disease and kidney failure may worsen throughout life. The presence of protein in the urine (which causes foamy urine) is often the first sign of kidney involvement. End-stage kidney failure in those with Fabry disease typically occurs in the third decade of life, and is a common cause of death due to the disease.[citation needed]
### Heart[edit]
Fabry disease can affect the heart in several ways. The accumulation of sphingolipids within heart muscle cells causes abnormal thickening of the heart muscle or hypertrophy. This hypertrophy can cause the heart muscle to become abnormally stiff and unable to relax, leading to a restrictive cardiomyopathy causing shortness of breath.[7][8]
Fabry disease can also affect the way in which the heart conducts electrical impulses, leading to both abnormally slow heart rhythms such as complete heart block, and abnormally rapid heart rhythms such as ventricular tachycardia. These abnormal heart rhythms can cause blackouts, palpitations, or even sudden cardiac death.[7][8]
Sphingolipids can also build up within the heart valves, thickening the valves and affecting the way they open and close. If severe, this can cause the valves to leak (regurgitation) or to restrict the forward flow of blood (stenosis). The aortic and mitral valves are more commonly affected than the valves on the right side of the heart.[7][8]
### Skin[edit]
Angiokeratomas (tiny, painless papules that can appear on any region of the body, but are predominant on the thighs, around the belly button, buttocks, lower abdomen, and groin) are common.[9]
Anhidrosis (lack of sweating) is a common symptom, and less commonly hyperhidrosis (excessive sweating).[citation needed]
Additionally, patients can exhibit Raynaud's disease-like symptoms with neuropathy (in particular, burning extremity pain).[citation needed]
Ocular involvement may be present showing cornea verticillata (also known as vortex keratopathy), i.e. clouding of the corneas. Keratopathy may be the presenting feature in asymptomatic patients, and must be differentiated from other causes of vortex keratopathy (e.g. drug deposition in the cornea).[10] This clouding does not affect vision.[10]
Other ocular findings can include conjunctival and retinal vascular abnormalities and anterior/posterior spoke-like cataract. Visual reduction from these manifestations is uncommon.
### Other manifestations[edit]
Fatigue, neuropathy (in particular, burning extremity pain, red hands and feet on and off), cerebrovascular effects leading to an increased risk of stroke - early strokes, mostly vertebrobasilar system tinnitus (ringing in the ears), vertigo, nausea, inability to gain weight, chemical imbalances, and diarrhea are other common symptoms.[citation needed]
## Causes[edit]
Fabry disease is caused by a DNA sequence (gene) that is not functioning as it should. A person who inherits this gene does not have enough of a functioning enzyme known as alpha-galactosidase A. The lack of alpha-galactosidase leads to Fabry disease. A deficiency of alpha galactosidase A (a-GAL A, encoded by GLA) due to mutation causes a glycolipid known as globotriaosylceramide (abbreviated as Gb3, GL-3, or ceramide trihexoside) to accumulate within the blood vessels, other tissues, and organs.[11] This accumulation leads to an impairment of their proper functions.
The DNA mutations that cause the disease are X-linked recessive with incomplete penetrance in heterozygous females. The condition affects hemizygous males (i.e. all non-intersex males), as well as homozygous, and in many cases heterozygous females. While males typically experience severe symptoms, women can range from being asymptomatic to having severe symptoms. New research suggests many women suffer from severe symptoms ranging from early cataracts or strokes to hypertrophic left ventricular heart problems and kidney failure. This variability is thought to be due to X-inactivation patterns during embryonic development of the female.[12]
## Mechanism/pathophysiology[edit]
Fabry disease is an inherited lysosomal storage disorder that is caused by a deficiency of alpha-galactosidase A. This enzyme deficiency is a result of an accumulation of glycosphingolipids found in the lysosomes and most cell types and tissues, which leads it to be considered a multisystem disease. Indications include painful crisis, angiokeratomas, corneal dystrophy, and hypohydrosis.[13] In severe cases there is renal, cerebrovascular, and cardiac involvement and it is predominately responsible for premature mortality in Fabry patients.[13] Fabry disease is X-linked and manifests mostly in homozygous males but also in heteozygous females. Cardiac involvement is recurrent in Fabry patients. Patients have developed hypertrophic cardiomyopathy, arrhythmias, conduction abnormalities, and valvular abnormalities.[13] Deficient activity of lysosomal alpha-galactosidase results in progressive accumulation of globotriaosylceramide (GL-3) within lysosomes, that is believed to trigger a cascade of cellular events.[14] The demonstration of marked alpha-galactosidase deficiency is the conclusive method for the diagnosis in homozygous males. It may be detected in heterozygotous females, but it is often inconclusive due to random X-chromosomal inactivation, so molecular testing (genotyping) of females is mandatory.[14]
## Diagnosis[edit]
Fabry disease is suspected based on the individual's clinical presentation, and can be diagnosed by an enzyme assay (usually done on leukocytes) to measure the level of alpha-galactosidase activity. An enzyme assay is not reliable for the diagnosis of disease in females due to the random nature of X-inactivation. Molecular genetic analysis of the GLA gene is the most accurate method of diagnosis in females, particularly if the mutations have already been identified in male family members. Many disease-causing mutations have been noted. Kidney biopsy may also be suggestive of Fabry disease if excessive lipid buildup is noted. Pediatricians, as well as internists, commonly misdiagnose Fabry disease.[15] All immediate and extended family members in the same family have the same family mutation, so if one member of a family has a DNA sequence analysis performed, other members of the family can be diagnosed by performing a targeted sequence analysis instead of testing the entire gene.[16] Targeted sequencing is quicker and less expensive to perform. One study reported that for every first diagnosis in a family, on average five more family members (immediate and extended) are also diagnosed.[16]
MRI is accurate in accessing left ventricular mass and thickness and hypertrophy. Late gadolinium enhancement shows increased signal of the midwall at the inferolateral wall of the base of the left ventricle, usually in the non-hypertrophic ventricle. T1-weighted imaging can show low T1 signal due to sphingolipid storage in the heart even without ventricular hypertrophy in 40% of the those affected by the disease. Thus, MRI is a useful way of diagnosing the disease early.[17] T2 signal is increased in inflammation and oedema.[18]
## Treatment[edit]
The treatments available for Fabry disease can be divided into therapies that aim to correct the underlying problem of decreased activity of the alpha galactosidase A enzyme and thereby reduce the risk of organ damage, and therapies to improve symptoms and life expectancy once organ damage has already occurred.
### Enzyme replacement therapy[edit]
Enzyme replacement therapy is designed to provide the enzyme the patient is missing as a result of a genetic malfunction. This treatment is not a cure, but can partially prevent disease progression, and potentially reverse some symptoms.[19]
The pharmaceutical company Shire manufactures agalsidase alpha (which differs in the structure of its oligosaccharide side chains[20]) under the brand name Replagal as a treatment for Fabry's disease,[21] and was granted marketing approval in the EU in 2001.[22] FDA approval was applied for the United States.[23] However, Shire withdrew their application for approval in the United States in 2012, citing that the agency will require additional clinical trials before approval.[24]
The first treatment for Fabry's disease to be approved by the US FDA was Fabrazyme (agalsidase beta, or alpha-galactosidase) in 2003, licensed to the Genzyme Corporation.[25] The drug is expensive — in 2012, Fabrazyme's annual cost was about US$200,000 per patient,[26] which is unaffordable to many patients around the world without enough resources or insurance. Infusion of the enzyme preparation seems to be well tolerated and effective in catabolizing the lipid deposits.[13]
Clinically, the two products are generally perceived to be similar in effectiveness. Both are available in Europe and in many other parts of the world, but treatment costs remain very high.[27] While increasing evidence shows that long-term enzyme therapy can halt the disease progression, the importance of adjunctive therapies should be emphasized and the possibility of developing an oral therapy pushes research forward into active site specific chaperones.[14]
Besides these drugs, a gene therapy treatment is in clinical trials,[28][29] with the technology licensed to AvroBio.[30] Other treatments under research include: plant-based ERT from Protalix, substrate reduction therapy from Sanofi-Genzyme, bio-better ERT from Codexis, and a gene editing solution from Sangamo.[31]
### Organ-specific treatment[edit]
Pain associated with Fabry disease may be partially alleviated by enzyme replacement therapy in some patients, but pain management regimens may also include analgesics, anticonvulsants, and nonsteroidal anti-inflammatory drugs, though the latter are usually best avoided in kidney disease. The kidney failure seen in some of those with Fabry disease sometimes requires haemodialysis. The cardiac complications of Fabry disease include abnormal heart rhythms, which may require a pacemaker or implantable cardioverter-defibrillator, while the restrictive cardiomyopathy often seen may require diuretics.[19]
## Clinical trials[edit]
* Enzyme replacement therapy: Replacement of the missing enzyme to clear the lipids (GL-3) from the cells[16]
* Substrate synthesis inhibition, also called substrate reduction therapy: Inhibits the production of the lipid (GL-3) that accumulates in the cells[16]
* Chaperone therapy: Uses small-molecule drugs that bind to the defective enzyme and stabilize it to increase enzyme activity and increase cellular function[16]
* Gene editing: Technology that can potentially cut and fix a broken gene in a cell[16]
* Gene therapy: Genetically modifies the affected cells to produce the missing enzyme.[16]
## Prognosis[edit]
Life expectancy with Fabry disease for males was 58.2 years, compared with 74.7 years in the general population, and for females 75.4 years compared with 80.0 years in the general population, according to registry data from 2001 to 2008. The most common cause of death was cardiovascular disease, and most of those had received kidney replacements.[32]
## Epidemiology[edit]
Fabry disease is panethnic, but due to its rarity, determining an accurate disease frequency is difficult.[14] Reported incidences, ranging from one in 476,000 to one in 117,000 in the general population, may largely underestimate the true prevalence.[14] Newborn screening initiatives have found an unexpectedly high prevalence of the disease, as high as one in about 3,100 newborns in Italy and have identified a surprisingly high frequency of newborn males around one in 1,500 in Taiwan.[14]
## History[edit]
Fabry disease was first described by dermatologist Johannes Fabry [2] and surgeon William Anderson [3] independently in 1898.[4] It was recognised to be due to abnormal storage of lipids in 1952. In the 1960s, the inheritance pattern was established as being X-linked, as well as the molecular defect responsible for causing the accumulation of glycolipids.[4]
Ken Hashimoto published his classic paper on his electron microscopic findings in Fabry disease in 1965.[33][34]
The first specific treatment for Fabry disease was approved in 2001.[19][22]
## Society and culture[edit]
* House ("Epic Fail", season six, episode three) centers on a patient with Fabry disease.
* Scrubs ("My Catalyst", season three, episode 12) features a Fabry disease diagnosis.
* Crossing Jordan ("There's No Place Like Home", season two, episode one) features a patient who died suffering from Fabry disease.
* The Village (Korean drama): "Achiara's Secret"[35] features daughters of a serial rapist who find each other because they share Fabry disease.
* Doctor John (Korean drama): In episode two, a prisoner is diagnosed with Fabry disease.
* In Lincoln Rhyme: Hunt for the Bone Collector, a copycat of the titular Bone Collector has Fabry disease and takes Galafold, which allows the detectives to learn his identity.
* Partners for Justice 2 (Korean drama), features Doctor K, who suffered from Fabry disease.
## See also[edit]
* Migalastat
## References[edit]
1. ^ James, Berger & Elston 2006, p. 538
2. ^ a b Fabry, Joh (December 1898). "Ein Beitrag zur Kenntniss der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae)" [A contribution to the knowledge of the purpura haemorrhagica nodularis (purpura papulosa haemorrhagica Hebrae)]. Archiv für Dermatologie und Syphilis (in German). 43 (1): 187–200. doi:10.1007/bf01986897. S2CID 33956139.
3. ^ a b Anderson, William (April 1898). "A Case of 'Angeio-Keratoma'". British Journal of Dermatology. 10 (4): 113–117. doi:10.1111/j.1365-2133.1898.tb16317.x. S2CID 70966125.
4. ^ a b c Schiffmann, Raphael (2015). "Fabry disease". Neurocutaneous Syndromes. Handbook of Clinical Neurology. 132. pp. 231–248. doi:10.1016/B978-0-444-62702-5.00017-2. ISBN 9780444627025. PMID 26564084.
5. ^ "Fabry disease | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2018-04-17.
6. ^ Hoffmann, Bjoern; Beck, Michael; Sunder-Plassmann, Gere; Borsini, Walter; Ricci, Roberta; Mehta, Atul; FOS European, Investigators. (July 2007). "Nature and Prevalence of Pain in Fabry Disease and Its Response to Enzyme Replacement Therapy—A Retrospective Analysis From the Fabry Outcome Survey". The Clinical Journal of Pain. 23 (6): 535–542. doi:10.1097/AJP.0b013e318074c986. PMID 17575495. S2CID 36215895.
7. ^ a b c Putko, Brendan N.; Wen, Kevin; Thompson, Richard B.; Mullen, John; Shanks, Miriam; Yogasundaram, Haran; Sergi, Consolato; Oudit, Gavin Y. (March 2015). "Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment". Heart Failure Reviews. 20 (2): 179–191. doi:10.1007/s10741-014-9452-9. ISSN 1573-7322. PMID 25030479. S2CID 11521278.
8. ^ a b c Akhtar, M. M.; Elliott, P. M. (2018-06-16). "Anderson-Fabry disease in heart failure". Biophysical Reviews. 10 (4): 1107–1119. doi:10.1007/s12551-018-0432-5. ISSN 1867-2450. PMC 6082315. PMID 29909504.
9. ^ "Proceedings of the 24th Paediatric Rheumatology European Society Congress: Part two". Pediatric Rheumatology Online Journal. 15 (Suppl 2): 65. 1 September 2017. doi:10.1186/s12969-017-0186-9. PMC 5592437.
10. ^ a b Chew, E.; Ghosh, M.; McCulloch, C. (June 1982). "Amiodarone-induced cornea verticillata". Canadian Journal of Ophthalmology. 17 (3): 96–99. PMID 7116220.
11. ^ Karen, Julie K.; Hale, Elizabeth K.; Ma, Linglei (2005). "Angiokeratoma corporis diffusum (Fabry disease)". Dermatology Online Journal. 11 (4): 8. PMID 16403380.
12. ^ James, Berger & Elston 2006, pp. [page needed]
13. ^ a b c d Perrot, Andreas; Osterziel, Karl Josef; Beck, Michael; Dietz, Rainer; Kampmann, Christoph (1 November 2002). "Fabry Disease: Focus on Cardiac Manifestations and Molecular Mechanisms". Herz. 27 (7): 699–702. doi:10.1007/s00059-002-2429-9. PMID 12439642. S2CID 25962218.
14. ^ a b c d e f Germain, Dominique P (2010). "Fabry disease". Orphanet Journal of Rare Diseases. 5 (1): 30. doi:10.1186/1750-1172-5-30. PMC 3009617. PMID 21092187.
15. ^ Marchesoni, Cintia L.; Roa, Norma; Pardal, Ana María; Neumann, Pablo; Cáceres, Guillermo; Martínez, Pablo; Kisinovsky, Isaac; Bianchi, Silvia; Tarabuso, Ana Lía; Reisin, Ricardo C. (May 2010). "Misdiagnosis in Fabry disease". The Journal of Pediatrics. 156 (5): 828–31. doi:10.1016/j.jpeds.2010.02.012. PMID 20385321.
16. ^ a b c d e f g "You are being redirected..." www.fabrydisease.org. Retrieved 2019-12-13.
17. ^ Hagège, Albert; Réant, Patricia; Habib, Gilbert; Damy, Thibaud; Barone-Rochette, Gilles; Soulat, Gilles; Donal, Erwan; Germain, Dominique P. (April 2019). "Fabry disease in cardiology practice: Literature review and expert point of view". Archives of Cardiovascular Diseases. 112 (4): 278–287. doi:10.1016/j.acvd.2019.01.002. PMID 30826269.
18. ^ Baig, S; Vijapurapu, R; Alharbi, F; Nordin, S; Kozor, R; Moon, J; Bembi, B; Geberhiwot, T; Steeds, R P (2019-01-01). "Diagnosis and treatment of the cardiovascular consequences of Fabry disease". QJM: An International Journal of Medicine. 112 (1): 3–9. doi:10.1093/qjmed/hcy120. ISSN 1460-2725. PMID 29878206.
19. ^ a b c Wanner, Christoph; Arad, Michael; Baron, Ralf; Burlina, Alessandro; Elliott, Perry M.; Feldt-Rasmussen, Ulla; Fomin, Victor V.; Germain, Dominique P.; Hughes, Derralynn A. (June 2018). "European expert consensus statement on therapeutic goals in Fabry disease" (PDF). Molecular Genetics and Metabolism. 124 (3): 189–203. doi:10.1016/j.ymgme.2018.06.004. ISSN 1096-7206. PMID 30017653.
20. ^ Fervenza, Fernando C.; Torra, Roser; Warnock, David G. (December 2008) [13 November 2008]. "Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease". Biologics. 2 (4): 823–843. doi:10.2147/btt.s3770. PMC 2727881. PMID 19707461.
21. ^ Keating, Gillian M. (October 2012). "Agalsidase alfa: a review of its use in the management of Fabry disease". BioDrugs. 26 (5): 335–354. doi:10.2165/11209690-000000000-00000. PMID 22946754.
22. ^ a b "Shire Submits Biologics License Application (BLA) for Replagal with the U.S. Food and Drug Administration (FDA)". FierceBiotech.
23. ^ "With A Life-Saving Medicine In Short Supply, Patients Want Patent Broken". 2010-08-04. Archived from the original on 14 September 2010. Retrieved 2010-09-02.
24. ^ Grogan, K. (2012-03-15). "Shire withdraws Replagal in USA as FDA wants more trials". PharmaTimes. Archived from the original on 2014-08-19.
25. ^ "Fabrazyme Prescribing Information (USA)" (PDF). www.fda.gov.
26. ^ Pollack, Andrew (April 15, 2010). "Genzyme Drug Shortage Leaves Users Feeling Betrayed". The New York Times.
27. ^ Turner, Neil N; Turner, Neil N; Lameire, Norbert; Goldsmith, David J; Winearls, Christopher G; Himmelfarb, Jonathan; Remuzzi, Giuseppe, eds. (2015). Fabry disease: Management and outcome. 1. Oxford University Press. doi:10.1093/med/9780199592548.001.0001. ISBN 9780199592548.
28. ^ "Canada launches first gene therapy trial for Fabry disease". EurekAlert!. Retrieved May 31, 2020.
29. ^ "Open-Label, Study Of Efficacy and Safety Of AVR-RD-01 for Treatment -Naive Subjects With Classic Fabry Disease - Full Text View - ClinicalTrials.gov". clinicaltrials.gov. Retrieved May 31, 2020.
30. ^ "UHN Start-up AVROBIO, Inc. Announces $60 Million Series B Financing to Advance Gene Therapy Pipeline for Lysosomal Storage Disorders and Apply Lentiviral Platform to Other Genetic Diseases | TDC".
31. ^ "You are being redirected..." www.fabrydisease.org. Retrieved May 31, 2020.
32. ^ Waldek, Stephen; Patel, Manesh R.; Banikazemi, Maryam; Lemay, Roberta; Lee, Philip (November 2009). "Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry". Genetics in Medicine. 11 (11): 790–796. doi:10.1097/GIM.0b013e3181bb05bb. PMID 19745746.
33. ^ John Thorne Crissey; Lawrence C. Parish; Karl Holubar (2013). Historical Atlas of Dermatology and Dermatologists. CRC Press. p. 179. ISBN 978-1-84214-100-7.
34. ^ Mehta, Atul; Beck, Michael; Linhart, Aleš; Sunder-Plassmann, Gere; Widmer, Urs (2006), Mehta, Atul; Beck, Michael; Sunder-Plassmann, Gere (eds.), "History of lysosomal storage diseases: an overview", Fabry Disease: Perspectives from 5 Years of FOS, Oxford PharmaGenesis, ISBN 978-1903539033, PMID 21290707, retrieved 10 August 2018
35. ^ "The Village: Achiara's Secret".
### Further reading[edit]
* James, William D.; Berger, Timothy G.; Elston, Dirk (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
* Schiffmann, Raphael; Kopp, Jeffrey B.; Austin, Howard A.; Sabnis, Sharda; Moore, David F.; Weibel, Thais; Balow, James E.; Brady, Roscoe O. (June 2001). "Enzyme replacement therapy in Fabry disease: a randomized controlled trial". JAMA. 285 (21): 2743–2749. doi:10.1001/jama.285.21.2743. PMID 11386930.
* Wilcox, William R.; Banikazemi, Maryam; Guffon, Nathalie; Waldek, Stephen; Lee, Philip; Linthorst, Gabor E.; Desnick, Robert J.; Germain, Dominique P. (July 2004). "Long-term safety and efficacy of enzyme replacement therapy for Fabry disease". American Journal of Human Genetics. 75 (1): 65–74. doi:10.1086/422366. PMC 1182009. PMID 15154115.
## External links[edit]
Classification
D
* ICD-10: E75.2 (ILDS E75.25)
* ICD-9-CM: 272.7
* OMIM: 301500
* MeSH: D000795
* DiseasesDB: 4638
External resources
* eMedicine: neuro/579 derm/707 ped/2888
* GeneReviews: Fabry disease
* Fabry Disease Information Page at NINDS
* Fabry disease at NLM Genetics Home Reference
Authority control
* GND: 4153455-4
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Fabry disease | c1970820 | 29,668 | wikipedia | https://en.wikipedia.org/wiki/Fabry_disease | 2021-01-18T19:00:28 | {"gard": ["6400"], "mesh": ["D000795", "C567062"], "umls": ["C1970820"], "icd-9": ["272.7"], "orphanet": ["324"], "wikidata": ["Q615645"]} |
PLCG2-associated antibody deficiency and immune dysregulation (PLAID) is an immune system disorder characterized by an allergic reaction to cold temperatures. Other immune system problems can also occur. The hallmark feature of PLAID is the development of a red, itchy rash (hives) when the skin is exposed to cool temperatures, which is known as cold urticaria. In PLAID, the hives typically develop in response to evaporative cooling, such as when a cool breeze or air conditioning blows on damp or sweaty skin. Being in a cold swimming pool can also trigger hives. In contrast, people with PLAID do not have a reaction when they touch a cold object, like an ice cube. (The ice cube test is a common test for a cold allergy; it triggers a reaction in people with other forms of cold urticaria, which usually begin later in life than PLAID.) However, some people with PLAID do experience a burning sensation in their throats when they eat cold foods, like ice cream. In PLAID, the hives go away once the skin warms up. Prolonged exposure to cold can lead to loss of consciousness or a serious allergic reaction known as anaphylaxis.
Other skin problems can also occur in PLAID. A small number of affected individuals develop a blistering rash on the tip of their nose, ears, and fingers shortly after birth. The rash usually heals on its own in infancy, although in rare cases, it worsens over time. After the initial rash goes away, a different rash sometimes develops on the torso and limbs later in life. This rash, called a granuloma, can affect small patches of skin or be widespread. In people with PLAID, the granulomas do not occur in warm regions of the body, such as the armpits and other skin folds.
In many people with PLAID, immune system function is reduced, leading to recurrent infections such as frequent colds, ear infections, or bouts of pneumonia. The infections are likely related to lower-than-normal levels of special proteins called antibodies or immunoglobulins, particularly immunoglobulin M (IgM) or immunoglobulin G (IgG). Antibodies attach to specific foreign particles and germs, marking them for destruction. The number of immune system cells called natural killer (NK) cells may also be reduced.
Autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs, can also occur. Autoimmune disorders associated with PLAID include autoimmune thyroiditis and vitiligo. Autoimmune thyroiditis results from damage to the butterfly-shaped, hormone-producing gland in the lower neck (the thyroid). Vitiligo is caused by attacks on the pigment cells in the skin, resulting in a patchy loss of skin coloration. Most people with PLAID have abnormal antibodies called autoantibodies in their blood. One such antibody common in people with PLAID is known as antinuclear antibody (ANA). Autoantibodies attach to normal proteins and can trigger an immune attack against the body's own tissues. However, not everyone with these abnormal antibodies has an autoimmune disease.
## Frequency
PLAID is a rare disorder whose prevalence is unknown. Only a few affected families have been reported in the medical literature.
## Causes
PLAID is caused by mutations in the PLCG2 gene, which provides instructions for making an enzyme called phospholipase C gamma 2 (PLCγ2). This enzyme is found predominantly in immune system cells and is critical for the cells' roles in preventing infection by recognizing and attacking foreign invaders, such as bacteria and viruses.
The PLCG2 gene mutations that cause PLAID remove (delete) segments of DNA from the gene. These changes alter a region of the PLCγ2 enzyme that controls whether it is turned on or off. The altered enzyme does not function properly. At lower temperatures, the enzyme is constantly active, rather than being turned on only when needed. It is thought that when the skin is cooled, the PLCγ2 enzyme is turned on, and the abnormal activity triggers an immune reaction, resulting in hives and skin rashes. Researchers are unsure if a similar mechanism underlies autoimmune disease in people with PLAID. Researchers speculate that the abnormal activity of the enzyme occurs in only a small range of cool temperatures. Direct contact with a cold object, such as an ice cube, may be too cold to turn on the enzyme, which might explain why people with PLAID do not react to the ice cube test.
In contrast, at normal body temperature, the PLCγ2 enzyme's activity is reduced. The resulting impairment of immune cell function prevents the body from effectively fighting foreign invaders, leading to recurrent infections.
### Learn more about the gene associated with PLCG2-associated antibody deficiency and immune dysregulation
* PLCG2
## Inheritance Pattern
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
In most cases, an affected person has one parent with the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| PLCG2-associated antibody deficiency and immune dysregulation | c3280914 | 29,669 | medlineplus | https://medlineplus.gov/genetics/condition/plcg2-associated-antibody-deficiency-and-immune-dysregulation/ | 2021-01-27T08:25:33 | {"gard": ["6131"], "omim": ["614468"], "synonyms": []} |
Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.
## Epidemiology
Only a few cases have been described.
## Clinical description
Patients have intercalary limb deficiencies (phocomelia sometimes combined with polydactyly, oligodactyly or ectrodactyly), absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, unusual facies (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are normal.
## Etiology
A null mutation in the WNT7A gene (3p25) is responsible for this syndrome. It is a severe allelic form of Fuhrmann syndrome.
## Diagnostic methods
The limb deficiencies and/or the absent pelvis may be detected by ultrasound.
## Genetic counseling
As most of the affected patients were born to consanguineous parents, autosomal recessive inheritance is presumed.
## Prognosis
Some of the affected infants died shortly after birth.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Phocomelia, Schinzel type | c1848651 | 29,670 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2879 | 2021-01-23T18:00:49 | {"gard": ["9212"], "mesh": ["C535612"], "omim": ["276820"], "icd-10": ["Q87.2"], "synonyms": ["Al Awadi-Raas-Rothschild syndrome", "Aplasia/hypoplasia of limbs and pelvis", "Congenital absence of ulna and fibula", "Severe limb deficit"]} |
Idiopathic intracranial hypertension (IIH), formerly known as pseudotumor cerebri, is a condition that affects the brain. Pseudotumor cerebri literally translates to "false brain tumor." This term was used because symptoms of IIH resemble those of brain tumors depsite no tumor being present. Symptoms of IIH may include severe headache, nausea and vomiting, altered vision, and pulsating sounds within the head. A person with IIH may also have symptoms such as a stiff neck, back or arm pain, eye pain, and memory problems. If the condition remains untreated, permanent visual loss or blindness may develop.
While the exact underlying cause of IIH is not known (idiopathic), it is likely due to high fluid pressure within the skull that is due to buildup, or poor absorption, of cerebrospinal fluid (CSF). IIH most often (but not always) occurs in young, overweight, females. When symptoms of intracranial pressure have an identifiable cause such as another underlying disease or medication, the condition is instead referred to as secondary IH.
Treatment for IIH may include medications called carbonic anhydrase inhibitors to control the production of CSF. In some cases, weight loss may also be recommended. However, medications and/or weight loss are not effective in all cases. In severe cases that do not respond to medication and weight loss, surgery may be needed to relieve symptoms and/or preserve vision.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Idiopathic intracranial hypertension | c0033845 | 29,671 | gard | https://rarediseases.info.nih.gov/diseases/4561/idiopathic-intracranial-hypertension | 2021-01-18T17:59:50 | {"mesh": ["D011559"], "omim": ["243200"], "umls": ["C0033845"], "orphanet": ["238624"], "synonyms": ["Intracranial hypertension, idiopathic", "Pseudotumor cerebri", "IIH"]} |
## Clinical Features
Lisch et al. (1992) described 5 family members and 3 unrelated patients (4 males, 4 females), aged 23 to 71 years, with bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns. Retroillumination showed that the opacities consisted of intraepithelial, densely crowded, clear microcysts. Light and electron microscopy disclosed diffuse vacuolization of the cytoplasm of epithelial cells in the affected area. Visual acuity was so reduced in 3 patients that abrasion of the corneal epithelium was performed. The corneal abnormalities recurred within months, with the same reduction in visual acuity as before. Onset occurred in childhood; similar amounts of opacities were observed in men and women. Immunohistochemistry showed scattered staining on Ki67, indicating no evidence of increased mitotic activity.
Mapping
Lisch et al. (2000) established that Lisch and Meesmann (122100) epithelial corneal dystrophies are genetically distinct. They examined 48 members of a family with an aggregation of Lisch corneal dystrophy. A total of 19 trait carriers were identified in 6 generations. No hereditary transmission from father to son was observed. Multipoint linkage analysis revealed linkage with a maximum lod score of 2.93 between markers DXYS233 and DXYS228X in the pseudoautosomal region at Xp22.3. Linkage was excluded for Xp22.2-qter.
INHERITANCE \- X-linked dominant HEAD & NECK Eyes \- Band-shaped, whorled microcystic dystrophy of the corneal epithelium MISCELLANEOUS \- Onset in childhood \- Asymptomatic if papillary zone is spared ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| CORNEAL DYSTROPHY, LISCH EPITHELIAL | c2749050 | 29,672 | omim | https://www.omim.org/entry/300778 | 2019-09-22T16:19:36 | {"doid": ["0060450"], "mesh": ["C567588"], "omim": ["300778"], "orphanet": ["98955"], "synonyms": ["Alternative titles", "LISCH EPITHELIAL CORNEAL DYSTROPHY", "BAND-SHAPED AND WHORLED MICROCYSTIC CORNEAL EPITHELIAL DYSTROPHY"]} |
Congenital sucrase-isomaltase deficiency is a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates).
Congenital sucrase-isomaltase deficiency usually becomes apparent after an infant is weaned and starts to consume fruits, juices, and grains. After ingestion of sucrose or maltose, an affected child will typically experience stomach cramps, bloating, excess gas production, and diarrhea. These digestive problems can lead to failure to gain weight and grow at the expected rate (failure to thrive) and malnutrition. Most affected children are better able to tolerate sucrose and maltose as they get older.
## Frequency
The prevalence of congenital sucrase-isomaltase deficiency is estimated to be 1 in 5,000 people of European descent. This condition is much more prevalent in the native populations of Greenland, Alaska, and Canada, where as many as 1 in 20 people may be affected.
## Causes
Mutations in the SI gene cause congenital sucrase-isomaltase deficiency. The SI gene provides instructions for producing the enzyme sucrase-isomaltase. This enzyme is found in the small intestine and is responsible for breaking down sucrose and maltose into their simple sugar components. These simple sugars are then absorbed by the small intestine. Mutations that cause this condition alter the structure, disrupt the production, or impair the function of sucrase-isomaltase. These changes prevent the enzyme from breaking down sucrose and maltose, causing the intestinal discomfort seen in individuals with congenital sucrase-isomaltase deficiency.
### Learn more about the gene associated with Congenital sucrase-isomaltase deficiency
* SI
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Congenital sucrase-isomaltase deficiency | c1283620 | 29,673 | medlineplus | https://medlineplus.gov/genetics/condition/congenital-sucrase-isomaltase-deficiency/ | 2021-01-27T08:24:55 | {"gard": ["7710"], "mesh": ["C538139"], "omim": ["222900"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that Fanconi renotubular syndrome-3 (FRTS3) is caused by heterozygous mutation in the EHHADH gene (607037) on chromosome 3q27. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 (134600).
Clinical Features
Tolaymat et al. (1992) reported a large African American family with Fanconi renal syndrome manifest as metabolic acidosis, hyperphosphaturia, hypercalciuria, aminoaciduria, glucosuria, and proteinuria. Several patients also had evidence of rickets, with short stature and genu varus. Members in 4 generations were probably affected, although the affected member of the first generation was not available for study. Eight affected individuals were recognized, with 1 instance of male-to-male transmission. Not all patients had the complete Fanconi syndrome; some did not have bone disease. None of the patients developed diabetes mellitus or renal failure.
Klootwijk et al. (2014) reported follow-up of the family reported by Tolaymat et al. (1992). Affected individuals had impaired growth and rickets, with femoral deformities, bowed legs, and loss of bone density from early childhood. There was impaired function of the proximal renal tubules, manifest by glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria. Although there was significant proteinuria, glomerular function was normal and none of the patients developed renal failure. The affected 74-year-old matriarch presented with slightly impaired kidney function, but had had normal kidney function at age 58 years.
Inheritance
The transmission pattern of Fanconi renotubular syndrome in the family reported by Tolaymat et al. (1992) was consistent with autosomal dominant inheritance.
Mapping
By genomewide linkage analysis of a family with autosomal dominant Fanconi renotubular syndrome, Klootwijk et al. (2014) found linkage to a region on chromosome 3q27 between markers D3S3583 and D3S2747 (maximum multipoint parametric lod score of 3.61).
Molecular Genetics
In affected members of a family with autosomal dominant Fanconi renotubular syndrome, originally reported by Tolaymat et al. (1992), Klootwijk et al. (2014) identified a heterozygous mutation in the EHHADH gene (E3K; 607037.0001). The mutation was found by genomewide linkage analysis followed by Sanger sequencing of candidate genes in the region. Transfection of the mutation into several cell lines, including a renal proximal tubular cell line, showed that the mutant protein localized to mitochondria as well as to peroxisomes, whereas wildtype EHHADH localized only to peroxisomes. Transfected renal tubular cells showed a defect in the transepithelial transport of fluids, with an inability to maintain fluid-filled domes in confluent monolayers, as well as a defect in luminal to basolateral transport of a glucose surrogate. These changes were associated with a defect in mitochondrial respiration and impaired ATP production. Mutant EHHADH coimmunoprecipitated with mitochondrial HADHA (600890) and HADHB (143450), which likely impaired mitochondrial function. These findings, combined with the lack of renal or mitochondrial dysfunction in Ehhadh-null mice, were consistent with a dominant-negative toxic effect of the mutant EHHADH protein rather than haploinsufficiency. Klootwijk et al. (2014) noted that proximal tubular cells use fatty acid oxidation as the predominant energy source, and that proper mitochondrial function is required for renal tubular reabsorption.
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature Other \- Poor growth GENITOURINARY Kidneys \- Fanconi syndrome \- Proximal renal tubular defect \- Normal glomerular function \- No renal failure SKELETAL \- Rickets \- Decreased bone density Limbs \- Bowed legs \- Femoral deformity METABOLIC FEATURES \- Metabolic acidosis LABORATORY ABNORMALITIES \- Glucosuria \- Phosphaturia \- Aminoaciduria \- Proteinuria MISCELLANEOUS \- One family has been reported (last curated January 2014) \- Onset in early childhood \- Variable expressivity \- Some patients do not have bone disease MOLECULAR BASIS \- Caused by mutation in the enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase gene (EHHADH, 607037.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| FANCONI RENOTUBULAR SYNDROME 3 | c3810100 | 29,674 | omim | https://www.omim.org/entry/615605 | 2019-09-22T15:51:28 | {"doid": ["1062"], "omim": ["615605", "134600"], "orphanet": ["3337"], "synonyms": ["Primary Fanconi renotubular syndrome"]} |
A number sign (#) is used with this entry because of evidence that Chitayat syndrome (CHYTS) is caused by heterozygous mutation in the ERF gene (611888) on chromosome 19q13.
Description
Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).
Clinical Features
Chitayat et al. (1993) reported a 5.5-month-old boy, born to nonconsanguineous French Canadian parents, who had diffuse bronchomalacia, facial dysmorphism, and digital anomalies. The proband had postdelivery respiratory distress requiring assisted ventilation for more than a week. CT scan of the chest showed marked narrowing of the first- and second-generation bronchi, and lung biopsy revealed that all of the small distal bronchi had absent or immature cartilage. Dysmorphic features included a box-shaped skull with frontal and parietal bossing, prominent eyes with hypertelorism, depressed nasal bridge, midface hypoplasia, long philtrum, full lips, and retrognathia. His hands were small with short middle fingers, and there was an extra bone on the radial aspect of the index fingers bilaterally. The index fingers also showed clinodactyly, and there was proximal insertion of the thumbs, soft tissue syndactyly of the thumb and index fingers, and overlapping of the index and fourth fingers of the middle finger. His feet showed bilateral hallux valgus. Skeletal survey revealed bilateral hyperphalangism involving 1 accessory phalanx on the radial aspect of the second digit on the left hand and 2 on the right, with partial syndactyly of the thumbs and second digits that included the extra phalanges. There was also bilateral dysplasia of the proximal phalanx of the third and fourth digits and of the second phalanx of the fifth finger, as well as delayed ossification of the carpal bones. In the feet, there was proximal displacement of the proximal phalanx and hallux valgus of both great toes. At 5.5 months of age, the infant had respiratory distress with tachypnea, pectus excavatum, and intercostal retractions, and continued to require oxygen supplementation.
Balasubramanian et al. (2017) provided follow-up on the patient originally described by Chitayat et al. (1993). The patient experienced respiratory difficulties secondary to bronchomalacia for the first 5 years of life, with recurrent severe respiratory infections and severe bronchospasm requiring admission to intensive care. His respiratory condition gradually improved, and at 21 years of age, he had obstructive pulmonary disease with an FEV(1)/FVC ratio of 52% (normal being greater than 80%). He showed no response to bronchodilators and had mild exertional dyspnea.
Tanaka et al. (1994) described a 5-month-old Japanese boy with features similar to those of the patient reported by Chitayat et al. (1993). The Japanese infant had tachypnea with retractions during the neonatal period, but his dyspnea gradually resolved by age 2 months. Digital anomalies in this patient included markedly hypoplastic middle phalanges of the second through fifth digits, and although he did not exhibit hyperphalangism, the proximal phalanges of the second digit were 'stubby.' In addition, he showed mesomelic upper limb shortness, and rhizomelic lower limb shortness.
Low et al. (2013) reported a mother and daughter with similar hand and foot deformities, pectus excavatum, recurrent respiratory infections, and, in the daughter, tracheomalacia. The proband exhibited bilateral hand anomalies comprising short broad thumbs, short deviated index fingers, and clinodactyly of the fifth fingers. Her feet showed broad valgus-deviated halluces as well as a laterally deviated second toe on the right. X-rays of the proband at age 5.25 years revealed a supernumerary bone in the index and middle fingers with severe delta phalanxes, clinodactyly of the fifth fingers, and a proximal delta phalanx of both great toes. The mother had previously undergone hand surgery, but x-rays showed duplication of the proximal phalanx of both thumbs. Her great toes had a deficient proximal phalanx lying medially and a complex enlarged distal phalanx which appeared to articulate with an interphalangeal joint and also with the metacarpophalangeal joint.
Balasubramanian et al. (2017) studied 5 patients from 4 families with Chitayat syndrome, including the patient originally described by Chitayat et al. (1993). All 5 patients appeared to have the same clinical phenotype, comprising accessory phalanges at the base of the index fingers resulting in ulnar deviation and shortened index fingers bilaterally, bilateral hallux valgus, and similar facial features, including prominent eyes with hypertelorism, depressed nasal bridge, short columella, high-arched eyebrows, upturned nose, and full lips. In addition, all of the patients presented with respiratory distress at birth requiring ventilatory support, and abnormalities of the respiratory system including bronchomalacia/tracheomalacia were complicated by recurrent severe respiratory infections. All 5 displayed pectus excavatum; other common features included hyperphalangism of the index and middle fingers and polyhydramnios.
Cytogenetics
Low et al. (2013) performed telomere studies and array CGH in an affected mother and daughter and identified a 227-kb duplication within 15q26.3 in both. The authors noted that duplication of this region was listed as a copy number variation in the Database of Genomic Variants, and suggested that the duplicated region might represent a benign copy number variant.
Molecular Genetics
In 5 patients from 4 families with Chitayat syndrome, including the patient originally described by Chitayat et al. (1993), Balasubramanian et al. (2017) identified heterozygosity for a recurrent missense mutation in the ERF gene (Y89C; 611888.0008). The mutation, which was present in an affected father and son in 1 of the families, was confirmed to have occurred de novo in the remaining 3 patients.
INHERITANCE \- Autosomal dominant HEAD & NECK Head \- Box-shaped head Eyes \- Prominent eyes \- Hypertelorism Nose \- Depressed nasal bridge \- Short columella \- Upturned nose Mouth \- Full lips RESPIRATORY Airways \- Respiratory distress at birth and in infancy \- Recurrent respiratory infections \- Tracheomalacia \- Bronchomalacia \- Collapsed distal bronchi on biopsy \- Absent or immature cartilage in distal bronchi on biopsy Lung \- Interstitial lung disease \- Irregularly enlarged and poorly septated alveoli on lung biopsy CHEST External Features \- Pectus excavatum SKELETAL Hands \- Brachydactyly \- Short index fingers with ulnar deviation \- Accessory phalanges at base of index fingers seen on x-ray \- Hyperphalangism on radial aspect of index fingers (in some patients) Feet \- Bilateral hallux valgus NEUROLOGIC Central Nervous System \- Hypotonia (in some patients) PRENATAL MANIFESTATIONS Amniotic Fluid \- Polyhydramnios MOLECULAR BASIS \- Caused by mutation in the ETS2 repressor-factor gene (ERF, 611888.0008 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| CHITAYAT SYNDROME | c4310679 | 29,675 | omim | https://www.omim.org/entry/617180 | 2019-09-22T15:46:37 | {"omim": ["617180"]} |
A number sign (#) is used with this entry because of evidence that familial isolated hyperparathyroidism-4 (HRPT4) is caused by heterozygous mutation in the GCM2 gene (603716) on chromosome 6p24.
For a discussion of genetic heterogeneity of familial isolated hyperparathyroidism, see 145000.
Clinical Features
Guan et al. (2016) studied 19 individuals in 7 kindreds of European ancestry with hyperparathyroidism. Patients were diagnosed with primary HRPT if they presented with hypercalcemia and elevated or unexpectedly normal circulating parathyroid hormone (PTH; 168450). At least 1 family member with HRPT in each kindred had histopathologically verified abnormal parathyroid tissue. Affected individuals were diagnosed at a median age of 57 years (range, 17-79 years). Multiple parathyroid tumors were present in 14 (82%) of 17 evaluable cases; only 1 patient exhibited possible parathyroid carcinoma. Four of the 19 patients had kidney stones, and 3 had osteopenia. Three patients had nonparathyroid neoplasms, including ovarian, pancreatic, colorectal, and/or breast cancer.
Molecular Genetics
In affected members from 7 of 40 kindreds of European ancestry with familial hyperparathyroidism, negative for mutation in the MEN1 (613733), CASR (601199), and CDC73 (607393) genes, Guan et al. (2016) identified heterozygosity for recurrent rare variants in the GCM2 gene: a Y394S mutation (603716.0005) was detected in 5 families, and Q251E/L379Q variants (603716.0006) were found in cis in 2 families. The mutations segregated with disease in the 3 families for which DNA samples were available from family members, and were rare or not found in the non-Finnish European population of the ExAC database. However, in 1 family (kindred W17) a 65-year-old unaffected carrier was found; in addition, a 60-year-old homozygous patient in this kindred did not display unusual or more severe symptoms compared to heterozygous patients. Functional analysis demonstrated that the variants are pathologic transcription-activating mutations.
INHERITANCE \- Autosomal dominant GENITOURINARY Kidneys \- Nephrolithiasis (in some patients) SKELETAL \- Osteopenia (in some patients) ENDOCRINE FEATURES \- Primary hyperparathyroidism \- Parathyroid carcinoma (rare) NEOPLASIA \- Nonparathyroid neoplasms (ovarian, pancreatic, colorectal, and/or breast cancer in some patients) LABORATORY ABNORMALITIES \- Hypercalcemia \- Normal to high circulating parathyroid hormone MISCELLANEOUS \- One reported homozygote did not show unusual or more severe symptoms than heterozygotes MOLECULAR BASIS \- Caused by mutation in the glial cells missing transcription factor 2 gene (GCM2, 603716.0005 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| HYPERPARATHYROIDISM 4 | c4479229 | 29,676 | omim | https://www.omim.org/entry/617343 | 2019-09-22T15:46:04 | {"omim": ["617343"], "orphanet": ["99879"], "synonyms": ["FIHPT"]} |
Rimoin and McAlister (1971) reported 3 brothers, born of consanguineous Sicilian parents, with an apparently autosomal recessive syndrome of metaphyseal dysplasia, short-limb dwarfism that was more apparent in the lower limbs, mild mental retardation, and conductive hearing loss. All 3 had repeated episodes of otitis media in childhood. Two had hyperopia and strabismus. Hands and feet were short and broad with squared-off nails, and fingers were noted to be markedly loose-jointed in all 3. The major radiographic changes were limited to the metaphyses, which were widened and irregular with broad areas of irregular dense calcification. The ribs were short and widened anteriorly with cupping and irregularity of the costochondral margins. The iliac wings were narrowed with a flattened pelvic inlet. The proximal femoral heads were well ossified but the femoral necks were small, resulting in a varus deformity. The long tubular bones were all markedly shortened. The distal ulnas were shortened and deformed relative to the radii. The lower limbs were bowed with the fibula longer than the tibia. Genu varum was present. The carpal and tarsal bones were small but not greatly deformed. The short tubular bones were all severely shortened with marked epiphyseal-metaphyseal flaring. The phalanges were wide.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short-limbed dwarfism Weight \- Obesity HEAD & NECK Ears \- Conductive hearing loss \- Recurrent episodes of otitis media Eyes \- Hyperopia \- Strabismus \- Anterior polar cataract CHEST Ribs Sternum Clavicles & Scapulae \- Short ribs \- Cupped ribs \- Irregular costochondral margins \- Flat glenoid fossa \- Small acromion processes SKELETAL \- Metaphyseal dysplasia Spine \- Scoliosis \- Increased lumbar lordosis Pelvis \- Narrow iliac wings \- Irregular iliac crest \- Coxa vara \- Flattened pelvic inlet \- Small femoral necks Limbs \- Short tubular bones \- Genu valgum \- Genu varum \- Fibula longer than tibia \- Widened, irregular metaphyses \- Metaphyseal cupping \- Bowed lower limbs Hands \- Short, broad hands \- Brachydactyly \- Small carpals \- Finger joint laxity \- Widened phalanges Feet \- Short, broad feet \- Small tarsals SKIN, NAILS, & HAIR Nails \- Squared-off nails NEUROLOGIC Central Nervous System \- Mental retardation, mild ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND CONDUCTIVE DEAFNESS | c1855175 | 29,677 | omim | https://www.omim.org/entry/250420 | 2019-09-22T16:25:24 | {"mesh": ["C565396"], "omim": ["250420"], "orphanet": ["2502"]} |
## Description
Isolated hemihyperplasia is an abnormality of cell proliferation leading to asymmetric overgrowth of one or more regions of the body. The term 'hemihyperplasia' has replaced the term 'hemihypertrophy' to describe accurately the increase in cell number found in these patients. The incidence of isolated hemihyperplasia is estimated to be 1 in 86,000. Idiopathic hemihypertrophy is associated with increased risk of embryonal cancers in childhood, particularly Wilms tumor (194070) (Shuman et al., 2006).
Hoyme et al. (1998) provided an anatomic classification of hemihyperplasia: complex hemihyperplasia is involvement of half of the body, including at least 1 arm and 1 leg; affected parts may be contralateral or ipsilateral. Simple hemihyperplasia is involvement of a single limb. See also facial hemihyperplasia (133900).
Although isolated hemihyperplasia is a distinct clinical entity, it can also occur as a feature of overgrowth syndromes, including Beckwith-Wiedemann syndrome (BWS; 130650), neurofibromatosis (NF1; 162200), Proteus syndrome (176920), and Klippel-Trenaunay-Weber syndrome (149000) (Shuman et al., 2006).
Clinical Features
There are several early reports of familial hemihypertrophy (Reed, 1925; Scott, 1935; Arnold, 1936; Rudolph and Norvold, 1944; Morris and MacGillivray, 1955). However, some of these patients had additional findings, suggesting that not all of the families had isolated hemihyperplasia (Heilstedt and Bacino, 2004).
Fraumeni et al. (1967) described affected brother and sister and recorded that their maternal uncle was said to have had one leg longer than the other since childhood. They reviewed 6 other examples of familial occurrence with instances of successive generations affected.
Meadows et al. (1974) reported the development of Wilms tumor in 3 children of a woman with congenital hemihypertrophy. Frota-Pessoa (1979) reported a nonconsanguineous Polish-Brazilian family with possible involvement in grandfather, mother, and mother's sister and grandson.
Viljoen et al. (1984) reported 11 unrelated individuals with congenital idiopathic hemihypertrophy defined as unilateral overgrowth of the body noted at birth. Overgrowth was left-sided in 8 and right-sided in 3. All except 1 patient had low or low-normal intelligence. Three patients had seizures, and 1 each had undescended testes, inguinal hernia, communicating hydrocephalus, bicuspid aortic valve, and Cushing syndrome. There was no difference in bone age between the hypertrophied and normal parts, and relative body proportions remained the same during growth. No genetic or other etiologic factors were recognized in this series.
Stoll et al. (1993) reported 12 patients with hemihypertrophy. One patient had some features of McCune-Albright syndrome (174800) and 2 had Silver-Russell syndrome (180860). The remaining 9 patients had idiopathic isolated hemihypertrophy. There was 1 familial occurrence in a mother and daughter. Body symmetry was unchanged during growth, and orthopedic problems, particularly scoliosis, complicated some cases. The right and left sides were essentially equally affected; limb length differences ranged from 1 to 6 cm. One patient developed a nephroblastoma.
In a prospective multicenter study of 168 children with isolated hemihyperplasia, Hoyme et al. (1998) found that 9 children developed tumors, yielding an overall incidence of 5.9%. Tumors were of embryonal origin similar to those noted in other overgrowth disorders: 4 unilateral Wilms tumors, 2 bilateral Wilms tumors, 2 adrenal cell carcinomas, 1 hepatoblastoma, and 1 leiomyosarcoma of the small bowel.
In the course of reviewing their experience with 18 patients with a referring diagnosis of Proteus syndrome, Biesecker et al. (1998) found that Proteus syndrome is frequently confused with hemihyperplasia. They defined a distinct subtype of hemihyperplasia with static or mildly progressive hemihyperplasia and multiple lipomata. They referred to this as the hemihyperplasia-multiple lipomatosis syndrome and suggested that this provisional designation may prove to be a useful description for a group of patients that show moderate abnormalities of asymmetry and overgrowth with subcutaneous lipomata. The manifestations in all but 1 of these patients were relatively stable from infancy through preadolescence. One subject showed evidence of severe progressive lipomatosis in his first 2 years of life.
Van den Akker et al. (2002) reported a 19-year-old woman with congenital hemihypertrophy of the right side who developed bilateral benign pheochromocytomas. The first pheochromocytoma was on the right side and developed at age 12 years; the second was on the left side and developed at age 17 years. The right adrenal cortex showed nodular hyperplasia. She also had a fibroadenoma of the right breast at age 11 years. Although there was no clear additional evidence of an associated syndrome, the authors suggested that this patient's symptoms could be part of a spectrum of Beckwith-Wiedemann syndrome, even though no BWS-specific gene defects were found.
Slavotinek et al. (2003) described a family in which the propositus had overgrowth of the left side of his chest compared to the right side and his mother had overgrowth involving her left leg. The enlargement was noted in early adolescence in both family members. The propositus and his mother had increased birth weights, but did not fulfill diagnostic criteria for Beckwith-Wiedemann syndrome or have physical anomalies consistent with a syndromic form of hyperplasia. Slavotinek et al. (2003) reviewed previously reported familial cases of nonsyndromic hyperplasia and concluded that there are no clinical features differentiating familial from nonfamilial cases.
Heilstedt and Bacino (2004) reported a Tunisian family in which 3 maternal cousins and their maternal grandfather had isolated hemihyperplasia. The proband was a 2-year-old child who had hyperplasia of the right upper and lower extremities. The length and diameter of the right leg and calf were 3 cm longer and 3 cm larger, respectively, compared to the left. There were no other anomalies, but the child developed Wilms tumor at age 2 years. Two maternal cousins of the proband and the maternal grandfather also had isolated hemihyperplasia. No cytogenetic abnormalities were detected in the 11p15 region in 2 patients examined. Heilstedt and Bacino (2004) suggested autosomal dominant inheritance with incomplete penetrance and postulated an imprinting defect of the maternally derived chromosome in the grandfather.
### Hemi-3 Syndrome
Nudleman et al. (1984) reported 3 unrelated girls with what they considered to be a subtype of hemihypertrophy, designated the hemi-3 syndrome, which also showed hemihypesthesia, hemiareflexia, and scoliosis. In the enlarged part, muscles were increased in size and strength; bones were increased in thickness but not length. Hypertrophy involved one side or quadrant, on the left in all 3, sparing the face. The neurologic defect was stationary but the scoliosis, which was convex to the left, was progressive, requiring treatment. In addition, 1 patient had a lumbar myelomeningocele and all 3 had a family history of other neural tube defects (NTD; 182940). The authors proposed that the hemi-3 syndrome is a manifestation of neural tube defects, part of a spectrum of genetically and embryologically related CNS malformation with multifactorial inheritance.
Mapping
Mannens et al. (1987) studied a 3-generation family with hemihypertrophy and a case of Wilms tumor. Using 6 different RFLPs of chromosome 11p, they found that a combination of alleles cosegregated with hemihypertrophy in this family.
Molecular Genetics
West et al. (2003) described a pair of female monozygotic twins discordant for isolated hemihypertrophy, and showed mosaic paternal uniparental disomy for 11p15 in the affected twin. They proposed that isolated hemihypertrophy is, in fact, part of the spectrum of phenotypes of Beckwith-Wiedemann syndrome, which maps to 11p15.5. In addition, they proposed that postzygotic recombination resulting in uniparental disomy for 11p15 is one mechanism responsible for discordance of phenotype between monozygotic twins.
Martin et al. (2005) performed methylation studies of the LIT1 (604115) and H19 (103280) genes on chromosome 11p in 27 children with isolated hemihyperplasia. Eight children (29.6%) had a defect in methylation of 1 or both of these genes, which supported the authors' hypothesis that these epigenetic changes can result in a phenotype distinct from typical BWS.
Idiopathic hemihypertrophy is associated with increased risk of embryonal cancers in childhood. Niemitz et al. (2005) compared the constitutional epigenetic alterations associated with idiopathic hemihypertrophy with those that had been well characterized in BWS, particularly the alterations in imprinted genes on 11p15. They found that the frequency of hypermethylation of H19 in children with idiopathic hemihypertrophy and Wilms tumor, 20% (3/15), was significantly lower than the frequency in children with BWS and Wilms tumor, 79% (11/14; P = 0.0028). These results indicated that children with IH and Wilms tumor have different constitutional epigenotypes from those of children with BWS and Wilms tumor.
Shuman et al. (2006) found that 8 (16%) of 51 patients with isolated hemihypertrophy had paternal uniparental disomy of 11p15, 3 (6%) had hypomethylation at KCNQ10T1 (LIT1), and none had hypomethylation at H19. There was evidence for somatic mosaicism in all 8 cases of uniparental disomy. Four (50%) of the 8 patients with uniparental disomy had tumors, whereas only 6 (15%) of the 40 patients without molecular alterations had tumors. The findings suggested that uniparental disomy at 11p15 in patients with isolated hemihypertrophy confers a high tumor risk. Two of the 8 patients with uniparental disomy were conceived using assisted reproductive technologies; the authors postulated that these methods may impact the rate of somatic recombination during embryonic development.
INHERITANCE \- Autosomal dominant GROWTH Other \- Asymmetric growth involving 1 or more body parts, isolated CHEST External Features \- Asymmetry of the chest Breasts \- Displaced nipples due to chest asymmetry GENITOURINARY Kidneys \- Wilms tumor, increased risk of SKELETAL Spine \- Scoliosis \- Myelomeningocele Limbs \- Hemihyperplasia of limbs Hands \- Hemihyperplasia of hands Feet \- Hemihyperplasia of feet MUSCLE, SOFT TISSUES \- Muscle hypertrophy in affected area NEUROLOGIC Central Nervous System \- Mental retardation, mild to moderate (20% of patients) NEOPLASIA \- Increased risk for embryonal tumors \- Increased risk for Wilms tumor MISCELLANEOUS \- Present at birth \- Prevalence estimated at 1 in 86,000 \- Incomplete penetrance \- May be due to imprinting defect \- See also facial hemihypertrophy ( 133900 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| HEMIHYPERPLASIA, ISOLATED | c0332890 | 29,678 | omim | https://www.omim.org/entry/235000 | 2019-09-22T16:27:11 | {"omim": ["235000"], "orphanet": ["2128"], "synonyms": ["Alternative titles", "HEMIHYPERPLASIA", "HEMIHYPERTROPHY, ISOLATED"]} |
Esterase B of erythrocytes is primarily a butyrylesterase. No variants have been reported in population surveys to date. See esterase A (168820) and esterase D (133280) for bibliography.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| ESTERASE B | None | 29,679 | omim | https://www.omim.org/entry/133260 | 2019-09-22T16:41:21 | {"omim": ["133260"]} |
Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Combined oxidative phosphorylation defect type 7 | c3150801 | 29,680 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254930 | 2021-01-23T17:16:22 | {"omim": ["613559"], "icd-10": ["E88.8"], "synonyms": ["COXPD7", "Severe C12ORF65-related COXPD", "Severe C12ORF65-related combined oxidative phosphorylation defect"]} |
## Description
Stuttering is a disorder of the flow of speech characterized by involuntary repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks (summary by Raza et al., 2010).
For a general phenotypic description and a discussion of genetic heterogeneity of stuttering, see STUT1 (184450).
Clinical Features
Raza et al. (2012) reported a large Pakistani kindred in which 14 individuals had persistent stuttering. There were several branches of the family, only 1 of which was consanguineous.
Inheritance
The transmission pattern of persistent stuttering in the family reported by Raza et al. (2012) was consistent with autosomal recessive inheritance.
Mapping
By genomewide linkage analysis followed by fine mapping in a Pakistani kindred with stuttering, Raza et al. (2012) found linkage to a region on chromosome 16q12.1-q23.1 (maximum lod score of 4.42 at marker D16S3043). Affected individuals from the nonconsanguineous portions of the kindred did not carry the stuttering-associated haplotype on chromosome 16q, suggesting linkage at another locus.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| STUTTERING, FAMILIAL PERSISTENT, 4 | c3553403 | 29,681 | omim | https://www.omim.org/entry/614668 | 2019-09-22T15:54:35 | {"omim": ["614668"]} |
A number sign (#) is used with this entry because spinocerebellar ataxia-31 (SCA31) is caused by a 2.5- to 3.8-kb insertion containing pentanucleotide repeats including (TGGAA)n within an intron of the BEAN gene (612051) on chromosome 16q21-q22.
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
See also SCA4 with sensory axonal neuropathy (600223), which also maps to chromosome 16q, but has a different phenotype.
Clinical Features
Nagaoka et al. (2000) reported 6 Japanese families with a pure cerebellar syndrome, referred to as autosomal dominant cerebellar ataxia type III (ADCA III) in the clinical classification by Harding (1982). The average age at onset was 55.9 years (range 45 to 72 years). Affected individuals had gait ataxia, cerebellar dysarthria, limb ataxia, decreased muscle tone, and horizontal gaze nystagmus. Sensation was normal in all but 1 patient who was 85 years old. There were no signs of pyramidal tract involvement. MRI showed cerebellar atrophy. Nagaoka et al. (2000) noted that the phenotype in their families differed from that of SCA4 with sensory neuropathy in the families reported by Gardner et al. (1994).
Ishikawa et al. (2005) found that 6 of 14 (42.9%) families with pure cerebellar ataxia similar to that described by Nagaoka et al. (2000) developed audiologic evidence of mild to moderate bilateral sensorineural hearing loss, which may or may not have been related to the cerebellar ataxia.
Owada et al. (2005) reported a 5-generation Japanese kindred in which multiple members had autosomal dominant pure cerebellar ataxia. The average age at onset was 52.1 years, although 2 patients had onset before age 20 years. Clinical features were consistent with a pure cerebellar syndrome, including truncal ataxia, limb ataxia, dysarthria, and reduced muscle tone. Tendon reflexes were normal but reduced at the ankles in 29% of patients. Gaze nystagmus was not obvious, and there were no signs of peripheral nerve involvement. Six of 7 patients examined also had hearing impairment of cochlear origin. Neuropathologic examination of 1 patient showed moderate cerebellar atrophy with Purkinje cell degeneration, abnormal dendrites, and somatic sprouts of Purkinje cells. Some degenerating Purkinje cells were surrounded by synaptophysin (SYP; 313475)-immunoreactive amorphous material containing calbindin (CALB1; 114050)- and ubiquitin (UBB; 191339)-positive granules.
Ouyang et al. (2006) reported 20 patients from 9 Japanese families with 16q-linked ataxia, as well as 2 patients with sporadic disease. The most common clinical features included late age at onset (mean 62 years), gait ataxia, dysarthria, nystagmus, and cerebellar atrophy. Less common features included hearing loss, tremor, brisk tendon reflexes, and decreased vibration sense. Affected members of 1 family showed spasticity without extensor plantar responses. All patients had a -16C-T variation in the PLEKHG4 gene (609526.0001), but this was later excluded as the molecular cause of the disorder (Amino et al., 2007 and Sato et al., 2009).
Hirano et al. (2009) reported 45 heterozygous patients and 4 homozygous Japanese patients with SCA31, as defined by presence of the -16C-T linkage marker in the PLEKHG4 gene. One of the homozygous patients was born of consanguineous parents, both of whom had a history of ataxia. Three of the homozygous patients were sibs. Their mother reported a history of ataxia, but their father did not. Although the age of onset of homozygous patients was similar to heterozygous patients overall (59.3 years), the disease onset tended to be earlier for homozygous patients within each family. Common clinical features overall included late-onset pure cerebellar ataxia with brisk reflexes. Hearing loss was variable. Among a larger cohort of 116 Japanese families with ataxia, the overall prevalence of SCA31 was 27% in South Kyushu and Okinawa, which was higher than any other form of ataxia. The prevalence of SCA31 was highest in the Miyazaki (65%) and Kagoshima (24.6%) districts.
Mapping
Nagaoka et al. (2000) mapped a locus responsible for what they characterized as a form of pure autosomal dominant cerebellar ataxia to chromosome 16q where the SCA4 locus had been mapped by Gardner et al. (1994).
Li et al. (2003) identified new polymorphic markers in the critical region of mapping. By typing these markers on 8 Japanese families with ADCA type III, including those reported by Nagaoka et al. (2000), they found that a common 'founder' haplotype was seen in a restricted area of 16q22.1.
By linkage analysis of 4 families from southern Japan with pure cerebellar ataxia, Hirano et al. (2004) refined the candidate disease locus to a 1.25-Mb interval between markers 17msm and CTTT01 on chromosome 16q22.1 (maximum 2-point lod score of 6.01 at D16S3141). Haplotype analysis suggested a founder effect for all 4 families.
Molecular Genetics
### Exclusion of Mutations in PLEKHG4 As Causative
In affected patients from 52 unrelated Japanese families with a pure form of cerebellar ataxia mapping to chromosome 16q, Ishikawa et al. (2005) identified a heterozygous variation in the PLEKHG4 gene (-16C-T; 609526.0001). One of the families was reported by Owada et al. (2005). Ohata et al. (2006) identified the -16C-T transition in the PLEKHG4 gene in 63 patients from 51 Japanese families with cerebellar ataxia. All families were from Nagano prefecture, which is relatively isolated by steep mountains, and 49 of the families shared a common haplotype. The phenotype was homogeneous, with adult onset and pure cerebellar ataxia without additional symptoms. However, 1 affected patient did not carry the -16C-T transition, even though her affected family members did have the change. In addition, this patient shared only a narrow part of the common haplotype, including a region centromeric to the -16C-T transition, suggesting that a true pathogenic mutation may be present in a different gene.
Amino et al. (2007) identified a Japanese family with autosomal dominant cerebellar ataxia linked to chromosome 16q who did not have the -16C-T transition, but carried the common haplotype centromeric to the PLEKHG4 gene identified in the patient reported by Ohata et al. (2006) who also did not carry the common -16C-T change. The findings redefined the disease locus to a 900-kb region between a polymorphism, which they called SNP04 that is centromeric to the PLEKHG4 gene, and the -16C-T transition. Sato et al. (2009) also stated that the -16C-T transition is in strong linkage disequilibrium with this disorder, but is not causative.
### 2.5- to 3.8-kb Insertion Containing Pentanucleotide Repeats Including (TGAAA)n on Chromosome 16q21-q22
By Southern blot analysis of a 900-kb critical region on chromosome 16q21-q22, followed by sequencing analysis, Sato et al. (2009) identified 2.5- to 3.8-kb insertions (612051.0001) in all 160 affected individuals from 98 families with SCA31, including 1 family reported by Amino et al. (2007). PCR amplification followed by sequencing showed that the insertion consisted of a preceding TCAC sequence followed by 3 pentanucleotide repeat components (TGGAA)n, (TAGAA)n, and (TAAAA)n in all patients tested. In a homozygous patient from whom the 900-kb critical region was derived, the authors found a (TGGAA)n sequence of greater than 110 repeats and a (TAAAATAGAA)n sequence of greater 112 repeats, both of which were too long to be read through. The (TGGAA)n and (TAAAATAGAA)n sequences were separated by a bridging sequence and (TAGAA)46. The insertions were located in introns of the BEAN (612051) and TK2 (188250) genes, which are on opposite strands and transcribed in opposite directions. These insertions were not identified in 99.77% of 800 Japanese and 60 American chromosomes, or in individuals with SCA4 (600223). However, 2 (0.23%) of 860 control chromosomes did carry similar smaller 1.5- or 2.0-kb insertions without (TGGAA)n sequences. Sato et al. (2009) concluded that the insertions in SCA31 patients exerted their toxicity either because of their length or the (TGGAA)n sequence, or because of both. The length of the SCA31 insertion was inversely correlated with the age at disease onset. Further analysis showed that the insertion site was identical for all insertions and was located at an Alu sequence. A single-nucleotide change in an intron of the TK2 gene segregated with SCA31 but was not considered to be pathogenic. The repeat insertions did not appear to cause splicing abnormalities or alterations in the expression levels of BEAN, TK2, or other nearby genes. Sato et al. (2009) demonstrated that the insertion transcribed in the direction of BEAN formed RNA foci in approximately 30 to 50% of Purkinje cell nuclei from SCA31 patients but not in cells from controls. RNA foci were not observed for antisense probes corresponding to TK2 transcripts in SCA31 or control brains. The splicing factors SFRS1 (600812) and SFRS9 (601943) were found to directly bind to (UGGAA)n, the transcribed sequence of (TGGAA)n, in vitro. In silico analysis showed that (TGGAA)n was abundant in centromeres of several human chromosomes, suggesting a role in heterochromatin or chromosomal structure.
Population Genetics
In a nationwide survey of Japanese patients, Hirayama et al. (1994) estimated the prevalence of all forms of spinocerebellar degeneration to be 4.53 per 100,000. Of these, 7.5% were estimated to have pure cerebellar ataxia, with onset after young adulthood. Cerebellar atrophy was appreciable on brain imaging.
Ouyang et al. (2006) estimated that 16q-linked ADCA is the third most common form in Japan, after MJD (109150) and SCA6 (183086).
Among 113 Japanese families from the island of Hokkaido with autosomal dominant SCA, Basri et al. (2007) found that SCA6 was the most common form of the disorder, identified in 35 (31%) families. Thirty (27%) families had SCA3, 11 (10%) had SCA1, and 10 (9%) had 16q22-linked SCA. The specific disorder could not be identified in 16 (14%) families.
History
Familial forms of pure cerebellar ataxia have been reported (see, e.g., Harding, 1982; Hoffman et al., 1970; Frontali et al., 1992).
INHERITANCE \- Autosomal dominant HEAD & NECK Ears \- Hearing loss, late-onset sensorineural, mild-to moderate (less common) Eyes \- Gaze-evoked horizontal nystagmus (not always present) NEUROLOGIC Central Nervous System \- Cerebellar ataxia, slowly progressive \- Dysarthria \- Nystagmus \- Gait ataxia \- Limb ataxia \- Cerebellar atrophy \- Degeneration of Purkinje cells in the cerebellum MISCELLANEOUS \- Late adult onset (after age 55 years) \- Earlier onset is rare MOLECULAR BASIS \- Caused by a 2.5- to 3.8-kb insertion containing pentanucleotide expansion repeats including (TGGAA)n within an intron of the brain-expressed, associated with NEDD4 gene (BEAN, 612051.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| SPINOCEREBELLAR ATAXIA 31 | c1861736 | 29,682 | omim | https://www.omim.org/entry/117210 | 2019-09-22T16:43:29 | {"doid": ["0050980"], "mesh": ["C566146"], "omim": ["117210"], "orphanet": ["217012"], "synonyms": ["Alternative titles", "SPINOCEREBELLAR ATAXIA, 16q22-LINKED"]} |
An extremely rare and highly aggressive neoplasm, usually manifesting in the third to fourth decade of life, affecting males and females equally, and characterized by the onset of high fever, weight loss, jaundice, skin infiltration, lymphadenopathy, hepatosplenomegaly, and severe anemia. It has a fulminant and rapidly fatal disease course with the progressive appearance of multiorgan failure and disseminated intravascular coagulation.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Aggressive NK-cell leukemia | c1292777 | 29,683 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86873 | 2021-01-23T18:05:16 | {"gard": ["10493"], "umls": ["C1292777", "C1522378"], "icd-10": ["C94.7"], "synonyms": ["ANKCL", "Aggressive NK-cell lymphoma", "NK-cell LGL leukemia", "NK-cell large granular lymphocyte leukemia"]} |
Medial knee injuries
Knee diagram(normal)
Medial knee injuries (those to the inside of the knee) are the most common type of knee injury.[1] The medial ligament complex of the knee is composed of the superficial medial collateral ligament (sMCL), deep medial collateral ligament (dMCL), and the posterior oblique ligament (POL). These ligaments have also been called the medial collateral ligament (MCL), tibial collateral ligament, mid-third capsular ligament, and oblique fibers of the sMCL, respectively.[2] This complex is the major stabilizer of the medial knee. Injuries to the medial side of the knee are most commonly isolated to these ligaments.[1][3] A thorough understanding of the anatomy and function of the medial knee structures, along with a detailed history and physical exam, are imperative to diagnosing and treating these injuries.
## Contents
* 1 Symptoms
* 1.1 Complications
* 2 Causes
* 3 Anatomy and Function
* 3.1 Bones
* 3.2 Ligaments and Biomechanical Function
* 3.3 Tendons & Muscles
* 4 Diagnosis
* 4.1 Physical Exam
* 4.2 Classification
* 4.3 Radiographs
* 4.4 MRI
* 5 Treatment
* 5.1 Nonoperative Treatment
* 5.2 Operative Treatment
* 5.2.1 Severe Acute Tears
* 5.2.2 Chronic Instability
* 5.2.3 Anatomic Medial Knee Reconstruction
* 6 Rehabilitation
* 7 History
* 8 Future research
* 9 References
## Symptoms[edit]
Patients often complain of pain and swelling over the medial aspect of the knee joint. They may also report instability with side-to-side movement and during athletic performance that involves cutting or pivoting.[4][5]
### Complications[edit]
Jacobson previously described the common problems to medial knee surgery.[6] It was stressed that adequate diagnosis is imperative and all possible injuries should be evaluated and addressed intraoperatively. Damage to the saphenous nerve and its infrapatellar branch is possible during medial knee surgery, potentially causing numbness or pain over the medial knee and leg.[7] As with all surgeries, there is a risk of bleeding, wound problems, deep vein thrombosis, and infection that can complicate the outcome and rehabilitation process. The long term complication of arthrofibrosis and heterotopic ossification (Pellegrini-Stieda syndrome) are problems that are best addressed with early range of motion and following defined rehabilitation protocols.[4][5][6][8] Failure of graft due to intrinsic mechanical forces should be prevented with preoperative alignment assessment (osteotomy treatment) and proper rehabilitation.[4]
## Causes[edit]
Medial knee injury is usually caused by a valgus knee force, a tibial external rotation force, or a combination thereof. This mechanism is often seen in sports that involve aggressive knee flexion like ice hockey, skiing, and football.[3][4][5]
## Anatomy and Function[edit]
Knee diagram
Structures on the medial side of the knee include the tibia, femur, vastus medialis obliquus muscle, semitendinosus tendon, gracilis tendon, sartorius tendon, adductor magnus tendon, medial head of the gastrocnemius muscle, semimembranosus tendon, medial meniscus, medial patellofemoral ligament (MPFL), sMCL, dMCL, and POL. It has been found that the most important structures for stabilization in this area of the knee are ligaments: sMCL, dMCL, and POL.[2][3]
### Bones[edit]
The bones of the knee are the femur, patella, tibia, and fibula. The fibula is on the lateral side of the knee and the patella has little effect on the medial side of the knee. The bony congruity of the medial knee consists of the opposing surfaces of the medial femoral condyle and the medial tibial plateau. On the medial femoral condyle there are three bony landmarks that are important: the medial epicondyle, adductor tubercle, and gastrocnemius tubercle. The medial epicondyle is the most distal and anterior prominence. The adductor tubercle is just proximal and posterior to the medial epicondyle. The gastrocnemius tubercle is just distal and posterior to the adductor tubercle.[2]
### Ligaments and Biomechanical Function[edit]
Left knee joint from behind, showing interior ligaments.
Tibia muscle attachments (seen from front)
The sMCL connects the femur to the tibia. It originates just proximal and posterior to the medial epicondyle (not directly on the epicondyle) and splits into two distinct sections.[9][4] One tibial section attaches to soft tissue, 1 cm distal to the joint line. The other tibial section attaches directly to the tibia, anterior to the posteromedial tibial crest, 6 cm distal to the joint line.[2][9] This distal attachment is the stronger of the two and makes up the floor of the pes anserine bursa. The proximal tibial attachment of the sMCL is the primary stabilizer to valgus force on the knee, whereas the distal tibial attachment is the primary stabilizer of external rotation at 30° of knee flexion.[3][9]
The dMCL is a thickening of the medial aspect of the capsule surrounding the knee. It originates on the femur 1 cm distal to the sMCL origin and inserts 3–4 mm distal to the joint line. It runs parallel to and underneath the sMCL.[2][9] The dMCL connects directly to the medial meniscus and therefore can be divided into meniscofemoral and meniscotibial ligament components.
The meniscofemoral ligament is longer than the meniscotibial ligament, which is shorter and thicker in nature.[2] The meniscofemoral ligament is a primary internal rotation stabilizer and a secondary external rotation stabilizer, activated when the sMCL fails.[3][9] The meniscotibial ligament acts to secondarily stabilize internal rotation.
The POL (called by older texts: oblique portion of the sMCL) is a fascial expansion with three main components: superficial, central (tibial), and capsular. The central arm is the strongest and thickest.[2][10] It arises from the semimembranosus tendon and connects anterior and distal to the gastrocnemius tubercle via the posterior joint capsule. The POL, therefore, is not a stand-alone structure, but a thickening of the posteromedial joint capsule. It stabilizes internal rotation of the knee through all degrees of flexion but bears the most load when internally rotated in full extension. It also acts as a secondary external rotation stabilizer.[3][4][11]
The MPFL arises from the fibers of the vastus medialis obliquus muscle and attaches distally to the superior medial aspect of the patella.[2] This ligament acts to keep the patella within the trochlear groove during flexion and extension.[2] It is rarely injured from a medial knee injury unless there is a concurrent lateral patellar subluxation or dislocation.
### Tendons & Muscles[edit]
The adductor magnus tendon attaches to the distal medial femoral condyle just posterior and proximal to the adductor tubercle.[2] It has a fascial expansion on the distal-medial aspect that attaches to the medial gastrocnemius tendon, capsular arm of the POL, and posteromedial joint capsule. The thick distal lateral aspect attaches to the medial supracondylar ridge. The adductor magnus tendon is an excellent, consistent landmark because it is rarely injured. The vastus medialis obliquus muscle courses over the anteromedial thigh, attaching along the adductor magnus anterior border and to the quadratus femoris tendon. The medial gastrocnemius tendon arises proximal and posterior to the gastrocnemius tubercle of the medial femoral condyle.[2] This is another important landmark because it is rarely injured and attaches close to the capsular arm of the POL, thus helping the surgeon locate the femoral attachment of the POL.[4]
## Diagnosis[edit]
The majority of medial knee injuries are isolated ligamentous injuries. Most patients will relate a history of a traumatic blow to the lateral aspect of the knee (causing a valgus force) or a non-contact valgus force. Acute injuries are much easier to diagnose clinically, while chronic injuries may be less apparent due to difficulty in differentiating from a lateral knee injury, possibly requiring valgus stress radiographs.[4][5]
### Physical Exam[edit]
The physical exam should always begin with a visual inspection of the joint for any outward signs of trauma. Palpation should follow paying close attention to effusion and subjective tenderness during the exam. The practitioner should also evaluate the contralateral (non-injured) knee to note any differences in gross appearance and landmarks. Palpation should focus specifically on the meniscofemoral and meniscotibial aspects of the sMCL. It has been reported that injury to one versus other has implications for healing, so localization of the site of injury is beneficial. Testing of the knee joint should be done using the following techniques and the findings compared to the contralateral, normal knee:[4][5]
* Valgus stress at 0° and 20°\- This test puts direct stress on the medial knee structures, reproducing the mechanism of injury. Valgus stress testing is done with the patient supine on the exam table. The lower extremity, supported by the examiner, is abducted. The examiner's fingers monitor the medial joint space for gapping while placing the opposite hand on the ankle. The knee is placed in 20° of flexion. The examiner then uses their own thigh as a fulcrum at the knee and applies a valgus force (pulling the foot and ankle away from the patient's body). The force is then used to establish the amount of gapping present within the joint. It has been reported that 20° of flexion is best for isolating the sMCL, allowing the practitioner to establish the degree of injury (see Classification). Additional testing is done at 0° to determine if a Grade III injury is present.[4][5]
* Anteromedial drawer test\- This test is performed with the patient supine with the knee flexed to 80-90°. The foot is externally rotated 10-15° and the examiner supplies an anterior and external rotational force. The joint can then be evaluated for tibial anteromedial rotation, taking care to recognize the possibility of posterolateral corner instability giving similar rotational test results. As always, compare the test in the opposite knee.[4][5][12]
* Dial Test (anteromedial rotation test)\- This test should be executed with the patient lying both supine and prone. When the patient is supine, the knees must be flexed 30° off the table. The thigh is then stabilized and the foot externally rotated. The examiner watches for the tibial tubercle of the affected knee to rotate as the foot rotates, comparing it to the contralateral knee. A positive test will show rotation of greater than 10-15° of rotation compared to the opposite knee. This is most easily assessed with a hand placed over the tibia while testing. When the patient is prone, the knee is flexed to 90° and both feet are externally rotated and compared, noting the difference from the non-injured joint. Similar to the anteromedial drawer test, a false positive test can result from a posterolateral corner injury. Testing at both 30° and 90° helps to distinguish between these injuries: one should monitor where the tibial rotation occurs (anteromedial or posterolateral) in the supine position and also assess for medial or lateral joint line gapping to differentiate between these two injuries.[4][5][13]
### Classification[edit]
Grading of medial knee injuries is dependent on the amount of medial joint space gapping found upon valgus stress testing with the knee in 20° of flexion. Grade I injuries have no instability clinically and are associated with tenderness only, representing a mild sprain. Grade II injuries have broad tenderness over the medial knee and have some gapping with a firm end-point during valgus testing; this represents a partial tear of the ligaments. Grade III injuries have a complete ligamentous tear. There will be no end-point to valgus stress testing.[5][6][14] The historic quantified definition of grades I, II, and III represented 0–5 mm, 5–10 mm, and >10 mm of medial compartment gapping, respectively.[15] LaPrade et al. reported, however, that a simulated grade III sMCL injury showed only 3.2 mm of increased medial compartment gapping compared to the intact state.[15] Additionally, with the knee in full extension, if valgus stress testing reveals more than 1–2 mm of medial compartment gapping present, a concomitant anterior cruciate ligament (ACL) or posterior cruciate ligament (PCL) injury is suspected.[4][5]
### Radiographs[edit]
Anterior-posterior (AP) radiographs are useful for reliably assessing normal anatomical landmarks. Bilateral valgus stress AP images can show a difference in medial joint space gapping. It has been reported that an isolated grade III sMCL tear will show an increase in medial compartment gapping of 1.7 mm at 0° of knee flexion and 3.2 mm at 20° of knee flexion, compared to the contralateral knee. Additionally, a complete medial ligamentous disruption (sMCL, dMCL, and POL) will show increased gapping by 6.5 mm at 0° and 9.8 mm at 20° during valgus stress testing.[15] Pellegrini-Stieda syndrome can also be seen on AP radiographs. This finding is due to calcification of the sMCL (heterotopic ossification) caused by the chronic tear of the ligament.[5][16]
### MRI[edit]
Magnetic resonance imaging (MRI) can be helpful in assessing for a ligamentous injury to the medial side of the knee.[6] Milewski et al. has found that grade I to III classification can be seen on MRI.[17] With a high-quality image (1.5 tesla or 3 tesla magnet) and no previous knowledge of the patient's history, musculoskeletal radiologists were able to accurately diagnose medial knee injury 87% of the time.[18] MRI can also show associated bone bruises on the lateral side of the knee, which one study shows, happen in almost half of medial knee injuries.[19]
Knee MRIs should be avoided for knee pain without mechanical symptoms or effusion, and upon non-successful results from a functional rehabilitation program.[20]
## Treatment[edit]
Treatment of medial knee injuries varies depending on location and classification of the injuries.[6][21] The consensus of many studies is that isolated grade I, II, and III injuries are usually well suited to non-operative treatment protocols. Acute grade III injuries with concomitant multiligament injuries or knee dislocation involving medial side injury should undergo surgical treatment. Chronic grade III injuries should also undergo surgical treatment if the patient is experiencing rotational instability or side-to-side instability.[4][5]
### Nonoperative Treatment[edit]
Conservative treatment of isolated medial knee injuries (grades I-III) begins with controlling swelling and protecting the knee. Swelling is managed well with rest, ice, elevation, and compression wraps.[22] Protection can be performed using a hinged brace that stabilizes against varus and valgus stress but allows full flexion and extension. The brace should be worn for the first four to six weeks of rehabilitation, especially during physical exercise to prevent trauma to the healing ligament. Stationary bike exercises are the recommended exercise for active range of motion and should be increased as tolerated by the patient. Side-to-side movements of the knee should be avoided. The patient is allowed to bear weight as tolerated and should perform quadriceps strengthening exercises along with range of motion exercises. The typical return-to-play time frame for most athletes with a grade III medial knee injury undergoing a rehabilitation program is 5 to 7 weeks.[4][23][5][14]
### Operative Treatment[edit]
It has been reported that severe acute and chronic grade III medial knee injuries often involve the sMCL in combination with the POL.[10][24] Direct surgical repair or reconstruction, therefore, should be performed for both of these ligaments because they both play an important role in static medial knee stability.[25] The biomechanically validated approach is to reconstruct both the POL and both divisions of the sMCL.[26][27]
#### Severe Acute Tears[edit]
Surgery involving direct repair (with or without augmentation from a hamstring autograft), among other previously used techniques, have not been biomechanically tested. An anatomical reconstruction of the sMCL and POL has been biomechanically validated.[26]
#### Chronic Instability[edit]
Underlying causes of chronic medial knee instability must be identified before surgical reconstruction is performed. More specifically, patients with genu valgum (knock-kneed) alignment must be evaluated and treated with an osteotomy(s) to establish balanced forces on knee ligaments, preventing premature failure of concurrent cruciate ligament reconstruction. These patients should be rehabilitated after the osteotomy heals before it can be verified that they do not still have functional limitations. Once proper alignment is achieved, reconstruction can be performed.[4]
#### Anatomic Medial Knee Reconstruction[edit]
This technique, described in detail by LaPrade et al., uses two grafts in four separate tunnels. An incision is made over the medial knee 4 cm medial to the patella, and extended distally 7 to 8 cm past the joint line, directly over the pes anserinus tendons.[27]
Within the distal borders of the incision, the semitendinosus and gracilis tendons are found beneath the sartorius muscle fascia. The distal tibial attachment of the sMCL can be found under these identified tendons, making up the floor of the pes anserine bursa, 6 cm distal to the joint line. Once identified, the remaining soft tissue is removed from the attachment site.[27] An eyelet pin is then drilled through attachment site transversely through the tibia, making sure the starting point is located at the posterior aspect of the site to ensure better biomechanical outcomes.[27] Over the eyelet pin, a 7-mm reamer (6 mm considered in smaller patients) is reamed to a depth of 25 mm. Once prepared, attention is directed to preparing the reconstruction tunnel for the tibial attachment of the POL. Above the anterior arm attachment of the semimembranosus muscle tendon, the tibial attachment of the central arm of the POL is identified. This attachment is exposed by making a small incision parallel to the fibers along the posterior edge of the anterior arm of the semimembranosus tendon. Once exposed, an eyelet pin is drilled through the tibia toward Gerdy's tubercle (anterolateral tibia). After verifying the correct anatomic eyelet pin placement, a 7-mm reamer is used over the pin to drill a tunnel depth of 25 mm.[27]
Moving to the femoral attachments of the ligaments, the first step is identifying the adductor magnus muscle tendon, and its corresponding attachment site, near the adductor tubercle. Just distal and slightly anterior to this tubercle is the bony prominence of the medial epicondyle. The attachment site of the sMCL can be identified slightly proximal and posterior to the epicondyle. An eyelet pin can now be passed transversely through the femur at this site. The tunnel at this location, however, should be drilled after identifying the POL attachment site.[27]
The next step of identifying the POL femoral attachment is done by locating the gastrocnemius tubercle (2.6 mm distal and 3.1 mm anterior to the medial gastrocnemius tendon attachment on the femur). If the posteromedial capsule is not intact, the POL attachment site is located 7.7 mm distal and 2.9 mm anterior to the gastrocnemius tubercle. With the capsule intact, however, an incision is made along the posterior aspect of the sMCL, parallel to its fibers. The central arm of the POL can then be found at its femoral attachment site. Once identified, an eyelet pin is passed transversely through the femur. The distances between the femoral attachment site of the POL and the sMCL (on average, 11mm) should now be measured to verify that the anatomic attachment sites have been correctly identified.[2] Once this is done, the femoral tunnels for the sMCL and POL can be reamed to a depth of 25 mm using a 7-mm reamer.[27]
The next aspect of the surgery is preparation and placement of the reconstruction grafts. The preparation can be done while the other steps are being completed by another surgeon or physician's assistant. The semitendinosus tendon can be harvested using a hamstring stripper for use as the reconstruction autograft.[26] The autograft is sectioned into a 16-cm length for the sMCL reconstruction and 12-cm length for the POL reconstruction. These lengths are also used if the surgery is done with cadaver allograft. The sMCL and POL grafts are pulled into their respective femoral tunnels and each secured with a cannulated bioabsorbable screw. The grafts are passed distally along their native courses to the tibial attachments. The sMCL is passed under sartorius fascia (and any remaining sMCL fibers). Both grafts are passed (but not yet secured) into their respective tibial tunnels using the existing eyelet pins. If simultaneous cruciate ligament surgery is underway, the cruciate reconstructions are secured before securing the medial ligaments.[27]
Securing the POL graft is done in full knee extension. The graft is pulled tight and fixed using a bioabsorbable screw. The knee is then flexed to 20°. Making sure the tibia remains in neutral rotation, a varus force is used to ensure there is no medial compartment gapping of the knee. The sMCL graft is then tightened and fixed with a bioabsorbable screw.[27]
The final step of reconstruction ligament fixation is the proximal tibial attachment of the sMCL. This soft-tissue attachment can be reproduced with a suture anchor[28] placed 12.2 mm distal to the medial joint line (average location), directly medial to the anterior arm of the semimembranosus tibial attachment.[27] Once this aspect of the sMCL is secured to the suture anchor, the knee is put through range of motion testing by the physician to determine the "safe zone" of knee motion which is used during the first post-operative day rehabilitation (below).[27]
## Rehabilitation[edit]
* Nonoperative Rehabilitation As mentioned in the Nonoperative Treatment section, the principles of rehabilitation are to control swelling, protect the knee (bracing), reactivate the quadriceps muscle, and restore range of motion. Early weight bearing is encouraged as tolerated, using crutches as little as possible, with a goal of walking without a limp. Stationary biking is the preferred range of motion exercise, stimulating the ligament to heal faster. Time on the bike and resistance should be increased as tolerated by the patient. Side-to-side movement should be restricted until after 3 to 4 weeks to allow the adequate healing. Proprioceptive and balance activities can progress after clinical exam or valgus stress radiographs reveal healing. Athletes can often resume full activities within 5 to 7 weeks after an isolated sMCL injury.[4][5]
* Postoperative Rehabilitation Postoperative rehabilitation protocols for reconstructed or repaired medial knee injuries focus on protecting the ligaments/grafts, managing swelling, reactivating the quadriceps, and establishing range of motion. A safe range of motion ("safe zone") should be measured by the surgeon intraoperatively and relayed to the rehabilitation specialist to prevent overstressing the ligaments during rehabilitation. The ideal passive range of motion is 0 to 90° of flexion on postoperative day one after surgery and should be followed for 2 weeks, as tolerated, with a goal of 130° of flexion at the end of the 6th week. To protect the newly reconstructed ligaments, a hinged knee brace should be used.[4] Swelling should be managed with cryotherapy and compression.[22] Patellofemoral mobilization, quadriceps reactivation, and frequent ankle pumps are also utilized right after surgery to prevent arthrofibrosis. Non-weight bearing to touch-down weight bearing is recommended for the first 6 weeks, progressing to closed-kinetic-chain exercises thereafter. Light-resistance stationary biking is also started at 2 weeks and can be increased as tolerated. Gait mechanics are addressed when the patient is able to bear their full weight. The patient should be able to walk without limping or developing swelling in the joint. Rehabilitation can only move as fast as tolerated and effusion must be monitored and managed at all times to ensure good results. Once motion, strength, and balance are regained, plyometric and agility exercises are started at 16 weeks. Brisk walking for 1 to 2 miles should be well tolerated before the patient starts a jogging program. Return to sports may be assessed at this point, providing no functional or stability deficits are present. Rehabilitation should be supervised by a professional specialist working along with the surgeon. Protocols may be adjusted in the presence of concomitant ligament reconstructions or osteotomies.[4][5][8] Valgus stress AP radiographs (mentioned above) are an excellent and cost-effective way to monitor postoperative results and follow-up.[15]
## History[edit]
During the Troubles in Northern Ireland, paramilitaries considered themselves to be law enforcers in their own areas. They used limb punishment shootings, commonly referred to as kneecapping, to punish petty criminals and other individuals whose behavior they deemed to be unacceptable. If the crime was considered to be grave, the victim was also shot in the ankles and elbows, leaving them with six gunshot wounds (colloquially known as a six pack).[29] Approximately 2,500 people were victims of these punishment shootings through the duration of the conflict. Those who were attacked carried a social stigma with them.[30]
The Red Brigades, an Italian militant organization, employed these punishment shootings to warn their opponents. They used the method to punish at least 75 people up to December 1978.[31] More recently this kind of punishment shooting has been employed by Hamas in the Gaza Strip to silence their political opponents.[32][33]
The Bangladesh Police have started kneecapping in the country since 2009 to punish the opposition and preventing them from participating in protests against the government. Human Rights Watch (HRW) has published a report on kneecapping in Bangladesh.[34]
## Future research[edit]
Future research with regard to medial knee injuries should evaluate clinical outcomes between different reconstruction techniques.[8] Determining the advantages and disadvantages of these techniques would also be beneficial for optimizing treatment.
## References[edit]
1. ^ a b Pedowitz, R. A.; O’Connor, J. J.; Akeson, W. H. (2003). Daniel's Knee Injuries: Ligament and Cartilage Structure, Function, Injury, and Repair (2nd ed.). Philadelphia, PA: Lippincott Williams & Wilkins. ISBN 978-0781718172.
2. ^ a b c d e f g h i j k l LaPrade, R. F.; Engebretsen, A. H.; Ly, T. V.; Johansen, S.; Wentorf, F. A.; Engebretsen, L. (2007). "The anatomy of the medial part of the knee". J Bone Joint Surg Am. 89 (9): 2000–2010. doi:10.2106/JBJS.F.01176. PMID 17768198.
3. ^ a b c d e f Marchant, M. H.; Tibor, L. M.; Sekiya, J. K.; Hardaker, W. T., Jr.; Garrett, W. E., Jr.; Taylor, D. C. (2010). "Management of medial-sided knee injuries, part 1: Medial collateral ligament". Am J Sports Med. 39 (5): 1102–1113. doi:10.1177/0363546510385999. PMID 21148144.
4. ^ a b c d e f g h i j k l m n o p q r s LaPrade, R. F.; Wijdicks, C. A. (2012). "The management of injuries to the medial side of the knee". J Orthop Sports Phys Ther. 42 (3): 221–233. doi:10.2519/jospt.2012.3624. PMID 22382986.
5. ^ a b c d e f g h i j k l m n o Widjicks CA, Griffin CJ, Johansen S, Engebretsen L, LaPrade RF (2010). "Injuries to the medial collateral ligament and associated medial structures of the knee". J Bone Joint Surg Am. 92 (5): 1266–1280. doi:10.2106/jbjs.i.01229. PMID 20439679.
6. ^ a b c d e Jacobson KE (1999). "Technical pitfalls of collateral ligament surgery". Clinical Sports Med. 18 (4): 847–882. doi:10.1016/s0278-5919(05)70188-5.
7. ^ Widjicks CA, Westerhaus BD, Brand EJ, Johansen S, Engebretsen L, LaPrade RF (2010). "Sartorial branch of the saphenous nerve in relation to a medial knee ligament repair or reconstruction". Knee Surg Sports Traumatol Arthrosc. 18 (8): 1105–1109. doi:10.1007/s00167-009-0934-6. PMID 19859696.
8. ^ a b c Lind M, Jakobsen BW, Lund B, Hansen MS, Abdallah O, Christiansen SE (2009). "Anatomical reconstruction of the medial collateral ligament and posteromedial corner of the knee in patients with chronic medial collateral ligament instability". Am J Sports Med. 37: 1116–1122. doi:10.1177/0363546509332498.CS1 maint: multiple names: authors list (link)
9. ^ a b c d e Griffith, C. J.; LaPrade, R. F.; Johansen, S.; Armitage, B.; Wijdicks, C.; Engebretsen, L. (2009). "Medial knee injury: Part 1, static function of the individual components of the main medial knee structures". Am J Sports Med. 37 (9): 1762–1770. doi:10.1177/0363546509333852. PMID 19609008.
10. ^ a b Hughston, J. C.; Eilers, A. F. (1973). "The role of the posterior oblique ligament in repairs of acute medial (collateral) ligament tears of the knee" (PDF). J Bone Joint Surg Am. 55 (5): 923–940. PMID 4760100.
11. ^ Tibor LM, Marchant MH, Sekiya JK, Hardaker WT Jr, Garrett WE Jr, Taylor DC (2010). "Management of medial-sided knee injuries, part 2: Posteromedial corner". Am J Sports Med. 39 (6): 1332–1340. doi:10.1177/0363546510387765. PMID 21173192.
12. ^ Hughston, J. C.; Norwood, L. A. (1980). "The posterolateral drawer test and external rotation recurvatum test for posterolateral rotational instability of the knee". Clin Orthop. 147 (147): 82–87. doi:10.1097/00003086-198003000-00014. PMID 7371321.
13. ^ LaPrade RF, Terry GC (1997). "Injuries to the posterolateral aspect of the knee: Association of injuries with clinical instability". Am J Sports Med. 25 (4): 433–438. doi:10.1177/036354659702500403. PMID 9240974.
14. ^ a b Petermann J, von Garrel T, Gotzen L (1993). "Non-operative treatment of acute medial collateral ligament lesions of the knee joint". Knee Surg Sports Traumatol Arthrosc. 1 (2): 93–96. doi:10.1007/bf01565459.
15. ^ a b c d LaPrade RF, Bernhardson AS, Griffith CJ, Macalena JA, Wijdicks CA (2009). "Correlation of valgus stress radiographs with medial knee ligament injuries: An in vitro biomechanical study". Am J Sports Med. 38 (2): 330–338. doi:10.1177/0363546509349347. PMID 19966093.
16. ^ Altschuler EL, Bryce TN (2006). "Images in clinical medicine. Pellegrini-Stieda syndrome". N Engl J Med. 354 (1): e1. doi:10.1056/nejmicm040406. PMID 16394294.
17. ^ Milewski MD, Sanders TG, Miller MD (2011) MRI-arthroscopy correlation: the knee. J Bone Joint Surg 93-A:1735-1745
18. ^ Yao L, Dungan D, Seeger LL (1994). "MR imaging of tibial collateral ligament injury: Comparison with clinical examination". Skeletal Radiol (Submitted manuscript). 23 (7): 52–524. doi:10.1007/bf00223082.
19. ^ Miller MD, Osborne JR, Gordon WT, Hinkin DT, Brinker MR (1998). "The natural history of bone bruises: A prospective study of magnetic resonance imaging-detected trabecular microfractures in patients with isolated medial collateral ligament injuries". Am J Sports Med. 26 (1): 15–19. doi:10.1177/03635465980260011001. PMID 9474396.
20. ^ \-->American Medical Society for Sports Medicine (24 April 2014), "Five Things Physicians and Patients Should Question", Choosing Wisely: an initiative of the ABIM Foundation, American Medical Society for Sports Medicine, retrieved 29 July 2014
1. * Dixit, S; DiFiori, JP; Burton, M; Mines, B (Jan 15, 2007). "Management of patellofemoral pain syndrome". American Family Physician. 75 (2): 194–202. PMID 17263214.
* Atanda A, Jr; Ruiz, D; Dodson, CC; Frederick, RW (Feb 2012). "Approach to the active patient with chronic anterior knee pain". The Physician and Sportsmedicine. 40 (1): 41–50. doi:10.3810/psm.2012.02.1950. PMID 22508250.
* Pappas, E; Wong-Tom, WM (Mar 2012). "Prospective Predictors of Patellofemoral Pain Syndrome: A Systematic Review With Meta-analysis". Sports Health. 4 (2): 115–20. doi:10.1177/1941738111432097. PMC 3435911. PMID 23016077.
* Rixe, JA; Glick, JE; Brady, J; Olympia, RP (Sep 2013). "A review of the management of patellofemoral pain syndrome". The Physician and Sportsmedicine. 41 (3): 19–28. doi:10.3810/psm.2013.09.2023. PMID 24113699.
* Roush, MB; Sevier, TL; Wilson, JK; Jenkinson, DM; Helfst, RH; Gehlsen, GM; Basey, AL (Jan 2000). "Anterior knee pain: a clinical comparison of rehabilitation methods". Clinical Journal of Sport Medicine. 10 (1): 22–8. doi:10.1097/00042752-200001000-00005. PMID 10695846.
21. ^ Frank CB, Loitz BJ, Shrive NG (1995). "Injury location affects ligament healing: a morphologic and mechanical study of the healing rabbit medial collateral ligament". Acta Orthop Scand. 66 (5): 455–462. doi:10.3109/17453679508995587.
22. ^ a b Schroder D, Passler HH (1994). "Combination of cold and compression after knee surgery: a prospective randomized study". Knee Surg Sports Traumatol Arthrosc. 2 (3): 158–165. doi:10.1007/bf01467918.
23. ^ Ballmer PM, Jakob RP (1988). "The non-operative treatment of isolated complete tears of the medial collateral ligament of the knee: a prospective study". Arch Orthop Trauma Surg. 107 (5): 273–276. doi:10.1007/bf00451505.
24. ^ Hugston JC (1994). "The importance of the posterior oblique ligament in repairs of acute tears of the medial ligaments in knees with and without an associated rupture of the anterior cruciate ligament: Results of long-term follow-up". J Bone Joint Surg Am. 76: 1328–1344.
25. ^ Griffith CJ, Wijdicks CA, LaPrade RF, Armitage BM, Johansen S, Engebretsen L (2009). "Force measurements on the posterior oblique ligament and superficial medial collateral ligament proximal and distal divisions to applied loads". Am J Sports Med. 37 (1): 140–148. doi:10.1177/0363546508322890. PMID 18725650.
26. ^ a b c Coobs BR, Wijdicks CA, Armitage BM, Spiridonov SI, Westerhaus BD, Johansen S, Engebretsen L, LaPrade RF (2010). "An in vitro analysis of an anatomical medial knee reconstruction". Am J Sports Med. 38 (2): 339–347. doi:10.1177/0363546509347996. PMID 19966100.
27. ^ a b c d e f g h i j k LaPrade RF, Wijdicks CA (2012). "Surgical technique: Development of an anatomic medial knee reconstruction". Clin Orthop Relat Res. 470 (3): 806–814. doi:10.1007/s11999-011-2061-1. PMC 3270176. PMID 21909850.
28. ^ Widjicks CA, Brand EJ, Nuckley DJ, Johansen S, LaPrade RF, Engebretsen L (2010). "Biomechanical evaluation of a medial knee reconstruction with comparison of bioabsorbable interference screw constructs and optimization with a cortical button". Knee Surg Sports Traumatol Arthrosc. 18 (11): 1532–1541. doi:10.1007/s00167-010-1127-z. PMID 20563561.
29. ^ Crawford, Duncan (28 January 2010). "Northern Ireland kneecapping victim 'shot four times'". BBC Newbeat. Retrieved 29 October 2016.
30. ^ Williams 1997, pp. 78–80. sfn error: no target: CITEREFWilliams1997 (help)
31. ^ Orsini 2011, pp. 13, 121. sfn error: no target: CITEREFOrsini2011 (help)
32. ^ Amnesty International UK 2009. sfn error: no target: CITEREFAmnesty_International_UK2009 (help)
33. ^ Amnesty International Ireland 2009, p. 3. sfn error: no target: CITEREFAmnesty_International_Ireland2009 (help)
34. ^ "Bangladesh: Stop 'Kneecapping' Detainees". 29 September 2016. Retrieved 10 May 2017.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
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| Medial knee injuries | c2732313 | 29,684 | wikipedia | https://en.wikipedia.org/wiki/Medial_knee_injuries | 2021-01-18T18:51:18 | {"umls": ["C2732313"], "wikidata": ["Q6806061"]} |
## Summary
### Clinical characteristics.
Crisponi syndrome, the infantile presentation of cold-induced sweating syndrome (CISS), is characterized by dysmorphic features (distinctive facies, lower facial weakness, flexion deformity at the elbows, camptodactyly with fisted hands, misshapen feet, and overriding toes), poor suck reflex and severely impaired swallowing, and temperature spikes associated with an increased risk for seizures and sudden death. During the first decade of life, children with CISS develop profuse sweating of the face, arms, and chest with ambient temperatures below 18º to 22º C, and with other stimuli including apprehension or ingestion of sweets. Affected individuals sweat very little in hot environments and may feel overheated. In the second decade, progressive thoracolumbar kyphoscoliosis requires intervention.
### Diagnosis/testing.
The diagnosis of CISS/Crisponi syndrome is established by clinical findings or, if clinical findings are insufficient, by identification of biallelic pathogenic variants in CRLF1 or CLCF1.
### Management.
Treatment of manifestations: Infants with Crisponi syndrome require close monitoring for risk of laryngospasm with respiratory distress and for bouts of hyperthermia, which may lead to seizures or sudden death. An apnea monitor is recommended; intervention for feeding difficulties is required; bracing, occupational therapy, or plastic surgery may be necessary to correct congenital finger and hand deformities. Surgical instrumentation or prolonged bracing may be required to treat a progressive thoracolumbar scoliosis. Sweating triggered by cold or apprehension can be effectively treated with clonidine alone or combined with amitriptyline. Moxonidine may also be tried.
Surveillance: Monitor for scoliosis.
Agents/circumstances to avoid: Heat exposure and prolonged physical activity in a hot climate.
Pregnancy management: Pharmacologic treatments for cold-induced sweating should be discontinued during pregnancy, as teratogenic effects on the fetus have not been well studied and remain a possibility. The prescription of clonidine should not be discontinued abruptly; the drug should be phased out over four to six days.
### Genetic counseling.
Cold-induced sweating syndrome (CISS) and its infantile version, Crisponi syndrome, are inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible if both pathogenic variants in the family are known.
## Diagnosis
### Suggestive Findings
Cold-induced sweating syndrome (CISS) or its infantile presentation (Crisponi syndrome) should be suspected in individuals with the following cardinal clinical characteristics:
* Dysmorphic features present at birth (Figure 1A, Figure 1B) including:
* Round face
* Low-set ears
* Depressed nasal bridge and anteverted nares
* Long philtrum, high-arched palate, and micrognathia
* Cubitus valgus and flexion deformity at the elbows
* Fisted hands, camptodactyly, overriding fingers, and transverse palmar creases
* Misshapen feet and overriding toes
* Characteristic facial expression (Figure 1A, Figure 2A) including:
* Intermittent contracture of the facial muscles, puckering of the lips, and drooling of foamy saliva when crying or being handled
* Normal facial expression when relaxed or sleeping (Figure 1B)
* Typically, excessive startling and opisthotonus-like posturing with unexpected tactile stimuli (Figure 3)
* Poor suck reflex and severely impaired swallowing present at birth
* Marked difficulty feeding that may necessitate nasogastric or gastrostomy tube feeding
* Mild lower facial weakness that usually persists throughout life (Figure 2B)
* Scaly erythematous rash (Figure 2A)
* Present in infancy and persisting throughout early childhood
* Affects the face, fingers, and occasionally trunk
* Paradoxic, cold-induced sweating with onset in the first decade
* Profuse sweating on the face, arms, and anterior and posterior chest to the waist at environmental temperatures below 18º-22º C (64º-71º F)
* Sweating also observed with nervousness and ingestion of sweets (illustrated in Hahn et al [2006])
* Other thermoregulatory abnormalities
* Minimal sweating (limited to the lumbar region, groin, and thighs) in heat, may result in uncomfortable overheating
* Temperature spiking (≤42º C [108º F]) in infancy not associated with infections, leading in some individuals to seizures and sudden death
* Progressive thoracolumbar kyphoscoliosis requiring bracing or surgical intervention in the second decade
#### Figure 1.
A. Newborn with Crisponi syndrome, caused by biallelic CRFL1 pathogenic variants, showing camptodactyly with fisted hands and characteristic facial features (rounded face, poorly developed and depressed nasal bridge, anteverted nares, long philtrum, facial (more...)
#### Figure 2.
A. Girl age 18 months with Crisponi syndrome, caused by biallelic CLCF1 pathogenic variants, demonstrating typical facial muscle contraction and puckering of the lips. Note the characteristic erythematous rash over the cheeks. B. Younger sister to A at (more...)
#### Figure 3.
Infant with Crisponi syndrome, caused by CLCF1 biallelic pathogenic variants, demonstrating the tendencies to grimace and startle while being handled. The infant assumes an extensor posture, retracting the head and raising and flexing the arms.
### Establishing the Diagnosis
The diagnosis of CISS is established in a proband with the above clinical features. Identification of biallelic pathogenic variants in CRLF1 or CLCF1 on molecular genetic testing (see Table 1) establishes the diagnosis if clinical features are inconclusive.
Molecular testing approaches can include serial single-gene testing, use of a multigene panel, and more comprehensive genomic testing.
Serial single-gene testing
1.
Sequence analysis of CRLF1
2.
Sequence analysis of CLCF1 if no pathogenic variants in CRLF1 are identified.
3.
Deletion/duplication analysis of CRLF1
Note: Sequence analysis of LIFR is recommended if no pathogenic variants in CRLF1 and CLCF1 are identified (see Differential Diagnosis).
A multigene panel that includes CRLF1, CLCF1 and other genes of interest (see Differential Diagnosis) may also be considered. (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
More comprehensive genomic testing (when available) including exome sequencing and genome sequencing may be considered if serial single-gene testing (and/or use of a multigene panel) fails to confirm a diagnosis in an individual with features of CISS. Such testing may provide or suggest a diagnosis not previously considered (e.g., mutation of a different gene that results in a similar clinical presentation).
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 1.
Molecular Genetic Testing Used in Cold-Induced Sweating Syndrome Including Crisponi Syndrome (CISS)
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Gene 1Proportion of CISS Attributed to Pathogenic Variants in GeneProportion of Pathogenic Variants 2 Detected by Method
Sequence analysis 3Gene-targeted deletion/duplication analysis 4
CRLF1~95%~99% 54 individuals 6
CLCF1~5%~100% 7Unknown 8
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
5\.
37 distinct CRLF1 pathogenic variants were identified in 59 individuals from 49 families [Piras et al 2014].
6\.
Four large deletions involving parts of CRLF1 have been reported [Di Leo et al 2010, Piras et al 2014].
7\.
Four distinct CLCF1 pathogenic variants were found in three individuals from two families [Hahn et al 2010].
8\.
No data on detection rate of gene-targeted deletion/duplication analysis are available.
## Clinical Characteristics
### Clinical Description
Cold-induced sweating syndrome (CISS) can present to the clinician in infancy as Crisponi syndrome, or from age three years onward as cold-induced sweating [Sohar et al 1978, Hahn et al 2006, Crisponi et al 2007, Hahn et al 2010]. Interviews with mothers of children or adults with CISS revealed that probably all individuals had findings of Crisponi syndrome in infancy, some more severe than others [Hahn et al 2010].
#### Presentation in Infancy (Crisponi Syndrome)
Typical dysmorphic features (see Suggestive Findings) are noted at birth and are accompanied by an inability to suckle and swallow as a result of facial and bulbar weakness. When crying or being handled, infants tend to startle excessively; they transiently assume an opisthotonus-like posture with the arms flexed with fisted hands, and show characteristic facial contractions with tightly pursed lips and excessive salivation. At the same time, they may also develop laryngospasm, difficulty breathing, and circumoral cyanosis as a sign of anoxia.
Life-threatening respiratory difficulties and unexplained high fevers up to 42º C [108º F] can lead to seizures and sudden death. Crisponi [1996] originally described this presentation in 17 newborns from 12 families of southern Sardinia. As 15 of the infants died in the first few months, the condition was considered to have a poor prognosis. However, it is now recognized that survival past infancy can be expected since most early infantile problems disappear gradually over the first two years of life.
Affected infants usually begin to feed normally by age one to two years. Occasionally, dysphagia persists throughout the first decade and may be associated with lack of interest in food or liquids. Excessive startling disappears by age two years. Psychomotor and speech development can be delayed due to manual difficulties caused by camptodactyly and orofacial weakness, respectively [Hahn et al 2010].
#### Presentation in Childhood and Adulthood
Cold-induced sweating, the most disabling symptom in adulthood, is recognized during the first decade (from age 3 years). With environmental temperatures of ≤22°C (72º F), affected individuals sweat profusely on their face and upper body, accompanied by intense shivering and dermal vasoconstriction, so that the fingers appear cold and cyanotic. Profuse sweating is also triggered by apprehension, nervousness, or by sweet gustatory stimuli, in particular by chocolate. In contrast, affected individuals sweat very little in heat and only in the lumbar region, the groin, and the anterior thigh. They become flushed and unpleasantly overheated in hot climates [Hahn et al 2006, Hahn et al 2010]. Although the hyperhidrosis can be effectively treated [Hahn et al 2006, Hahn et al 2010, Herholz et al 2010], heat intolerance is a lifelong problem.
Toward the end of the first decade, affected children develop a progressive thoracolumbar kyphoscoliosis that requires either bracing or spinal instrumentation.
Once the difficulties of early childhood have been overcome, individuals with CISS/Crisponi syndrome are for the most part able to lead a fairly normal and productive life, obtain a secondary education, and have children. Life expectancy is probably normal; to date only one individual has been followed to the eighth decade [Hahn et al 2006].
#### Other Findings
Laboratory tests, metabolic studies, and detailed studies of autonomic functions are usually normal [Hahn et al 2006].
EMG and nerve conduction velocity are generally normal. Decrease in the perception of light touch and painful stimuli and atrophy of small foot muscles have been observed in rare cases, indicating a mild chronic axonal sensory and motor peripheral neuropathy. In this instance motor and sensory nerve conduction velocities recorded from sural nerves and from peroneal nerves were normal, but the evoked sensory and motor action potential amplitudes were reduced.
Clinical observation has suggested that some individuals with CISS have decreased pain perception; preliminary data established with use of the laser-evoked potential technique suggest that functions of facial and hand cutaneous nociceptive and warmth pathways are normal in CRLF1-associated CISS [Testani et al 2016]. This deserves further study.
Developmentally abnormal autonomic innervation of sweat glands and skin adnexa was documented with immunohistochemical techniques in skin biopsies derived from individuals with CRLF1-associated CISS and Stüve-Wiedemann syndrome (STWS), who exhibited cold-induced sweating. Findings demonstrate persistence of noradrenergic innervation of sweat glands in the hyperhidrotic skin, indicating that sympathetic neurons innervating sweat glands failed to undergo postnatal cholinergic differentiation [Di Leo et al 2010, Melone et al 2014].
The following additional tests could be performed to explore further the possibility of impaired development of sensory and autonomic neurons:
* Study of nociceptive cutaneous Aδ and warmth C-fibers using CO2 laser-evoked potentials with recording from perioral, hand, and when possible lower leg
* Quantitative sensory testing (QSART)
* Nerve biopsies with morphometric analyses and ultrastructural evaluation
* Skin biopsy with quantitative analysis of sensory innervation
* Skin biopsy with immunohistochemical studies for the evaluation of autonomic innervation of sweat glands, arteriovenous anastomoses, and piloerector muscles
### Genotype-Phenotype Correlations
Clinical manifestations are stereotypic and seemingly identical in individuals with CRLF1 or CLCF1 pathogenic variants [Hahn et al 2010]. However, only three affected individuals with CLCF1 pathogenic variants from two families have so far been reported [Hahn et al 2006, Hahn et al 2010].
CRLF1 pathogenic variants are distributed throughout the entire gene. A large study by Piras et al [2014] found no correlation between phenotype and the type/localization of CRLF1 pathogenic variants.
### Nomenclature
The term “cold-induced sweating syndrome” was coined [Knappskog et al 2003] from the title of the Lancet report “cold-induced profuse sweating on back and chest” [Sohar et al 1978].
Following the demonstration of locus heterogeneity, the abbreviations CISS1 and CISS2 were introduced [Hahn et al 2006]. As CISS1 and CISS2 are clinically indistinguishable, the term “CISS” covers both disorders until a molecular diagnosis is made.
Survivors of infantile-onset Crisponi syndrome [Crisponi 1996] with time will develop CISS, substantiated by the demonstration of pathogenic variants in CRLF1 [Crisponi et al 2007, Dagoneau et al 2007] and in CLCF1 [Hahn et al 2010]. Thus, CISS and Crisponi syndrome are not “allelic disorders” [Crisponi et al 2007], but rather Crisponi syndrome is the infantile presentation of CISS [Hahn et al 2010].
### Prevalence
CRLF1-associated CISS has been observed in individuals originating from Europe, Turkey, the Middle East, India, Pakistan, East Asia, Australia, and North and Central America [Knappskog et al 2003, Hahn et al 2006, Crisponi et al 2007, Dagoneau et al 2007, Okur et al 2008, Thomas et al 2008, Di Leo et al 2010, Hahn et al 2010, Yamazaki et al 2010, Cosar et al 2011, Herholz et al 2011, Dessì et al 2012, Hakan et al 2012, Tüysüz et al 2013, Piras et al 2014]. CRLF1-associated CISS appears to be particularly prevalent in the Mediterranean region [Crisponi 1996, Crisponi et al 2007, Dagoneau et al 2007].
The majority of CRLF1 pathogenic variants are private. A few pathogenic variants were prevalent in unrelated individuals from certain geographic regions and likely derive from a founder effect (e.g., c.226T>G and c.676_677dupA in Sardania, c.708_709delinsT in Turkey, and c.713dupC in Spain, Turkey, the Roma population, and Central America) [Piras 2014, personal observation].
To date only three individuals with CLCF1-associated CISS have been reported [Hahn et al 2006, Hahn et al 2010].
## Differential Diagnosis
Stüve-Wiedemann syndrome (STWS) (OMIM 601559). In the infantile period, STWS shares clinical features with CISS [Jung et al 2010]. Although chondrodysplasia (manifest as congenital bowing of the long bones and decreased joint mobility) is the main characteristic of STWS, other findings include camptodactyly; severe sucking, swallowing, and feeding difficulties; episodic respiratory distress; episodes of hyperthermia; and sudden death. A few of the individuals with STWS who have survived the first year show persistent thermoregulatory difficulties and abnormal sweating [Gaspar et al 2008]. Cold-induced sweating (called paradoxic sweating) was reported in two unrelated individuals [Di Rocco et al 2003] and personally observed [Hahn, unpublished]. In their teens survivors may manifest dental decay and progressive kyphoscoliosis [Jung et al 2010]. STWS is associated with LIFR pathogenic variants and is inherited in an autosomal recessive manner.
Melone et al [2014] reported a 33-year-old female with features of STWS including cold-induced sweating, but without bowing of the long bones and complete chromosome 5 maternal isodisomy with an isozygous LIFR pathogenic variant (c.2170C>G, p.Pro724Ala). The proband’s mother was heterozygous for the c.2170C>G variant.
Jung et al [2010] reported several individuals with a typical STWS phenotype who did not have pathogenic variants in LIFR. Genetic heterogeneity for STWS is suggested.
Distal arthrogryposis type 2A and distal arthrogryposis type 2B. The intermittent facial muscle contraction and puckering of the lips of young children with Crisponi syndrome may bear some resemblance to distal arthrogryposis type DA2A (Freeman-Sheldon syndrome; OMIM 193700), caused by pathogenic variants in MYH3 and to distal arthrogryposis type DA2B (Sheldon-Hall syndrome; OMIM 601680), also caused by pathogenic variants in MYH3 in some individuals. However, puckering of the lips that gives this appearance is not evident in infants or older children when they are relaxed. While camptodactyly is a shared feature, microstomia is not present in Crisponi syndrome. Distal arthrogryposis type 2A and type 2B are inherited in an autosomal dominant manner.
Chong et al [2015] reported that in a subset of individuals with DA2A without pathogenic variants in MYH3, heterozygous pathogenic missense variants in NALCN (predicted to alter amino acid residues in or near the S5 and S6 pore-forming segments) were associated with congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD syndrome; OMIM 616266). Biallelic pathogenic variants in other regions of NALCN are associated with an autosomal recessive syndrome of severe infantile feeding difficulties, speech delay, hypotonia, and severe cognitive impairment (OMIM 615419) [Al-Sayed et al 2013, Fukai et al 2016]; the latter two features are not seen in CISS.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs of an individual diagnosed with cold-induced sweating syndrome (CISS/Crisponi syndrome), the following evaluations are recommended:
* Brain MRI. Usually normal, but may be done to evaluate for complicating features including a thin corpus callosum [Okur et al 2008] or small subcortical white matter lesions [Yamazaki et al 2010, Tüysüz et al 2013]
* Swallowing tests and esophageal manometry. May be helpful in assessing the safety of oral feeding
* EEG when seizures are observed or suspected
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
Infants require close monitoring in anticipation of episodes of laryngospasm with respiratory distress, bouts of hyperthermia (≤42º C [108° F]), seizures, and possible sudden death. Preparedness for appropriate countermeasures (e.g., supplemental oxygen, cooling blankets, antiepileptic drugs) is essential.
* An apnea monitor is recommended.
* Serial or continuous electroencephalogram (EEG) monitoring may be required during the first few weeks if seizures are observed. Anticonvulsants may be required.
* Nasogastric or gastrostomy tube feeding is indicated until at least age one year to overcome precarious feeding problems in infancy.
* Bracing, occupational therapy, or plastic surgery may be necessary to correct congenital finger and hand deformities.
* Surgical instrumentation or prolonged bracing may be required to correct a progressive thoracolumbar scoliosis.
Paradoxic sweating. Treatment should be reserved for adults and older children. The combined prescription of clonidine and amitriptyline can provide excellent and long-term symptom control.
* Clonidine. Episodes of cold-induced sweating are associated with a prominent increase in plasma noradrenaline. Clonidine, a central presynaptic α2-adrenoreceptor agonist, induces feedback inhibition of synaptic noradrenaline release. Oral clonidine, at starting doses of 0.05 mg to 0.1 mg twice daily, effectively reduces cold-induced sweating and is usually well tolerated. If there are no contraindications, the drug is maintained at the lowest dose required for acceptable symptom control.
* Before initiating a prescription of clonidine, check potential interactions with already prescribed medications.
* The beneficial effects of clonidine may lessen within a few weeks of starting the drug, due to habituation.
* A gradual increase in the daily dose of clonidine to tolerance (side effects: dry mouth, postural hypotension, sedation) or to a maximum of 0.1 mg four times daily may be required.
* If clonidine needs to be discontinued, the prescription should be phased out over four to six days; abrupt cessation of clonidine can lead to prominent hypertension.
* Amitriptyline, 10 mg orally at bedtime may be added to the prescription of clonidine when symptoms are not adequately controlled. The dose may need to be increased gradually to a maximum of 25 mg four times daily (taken together with clonidine).
* Moxonidine, prescribed at a maximum oral dose of 6 μg/kg/d, was shown to provide effective symptom relief in two teenage sibs with CISS [Herholz et al 2010]. Moxonidine was well tolerated in the short term; however, long-term observations are not yet available.
### Prevention of Primary Manifestations
See Treatment of Manifestations.
### Surveillance
Surveillance includes monitoring for evidence of scoliosis and its progression.
### Agents/Circumstances to Avoid
Affected individuals should avoid heat exposure and prolonged physical activity in a hot climate.
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Pregnancy Management
Females with CISS may conceive normally. No complications during pregnancy have been reported to date.
Treatments for cold-induced sweating (clonidine, amitriptyline, moxonidine) should be discontinued during pregnancy, as the potential for teratogenic effects on the fetus is not well studied and remains possible. The prescription of clonidine should not be discontinued abruptly; the drug should be phased out over four to six days.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[v]: View this template
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*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Cold-Induced Sweating Syndrome Including Crisponi Syndrome | None | 29,685 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK52917/ | 2021-01-18T21:33:52 | {"synonyms": []} |
Weinstein (1965) reported 3 families with multiple affected males in a pattern strongly suggesting X-linked recessive inheritance. In a later paper, Winkler and Weinstein (1970) described 2 families, each with 2 sisters with imperforate anus and/or ectopic anus (rectovaginal fistula). They then proposed autosomal recessive inheritance for some cases (see 207500). Bensen and Burton (1989) reported a family in which imperforate anus with or without hypospadias occurred in 4 males in 3 sibships of 2 generations, the males being connected through presumed carrier females. In addition, 1 male, the son of a sister of an affected male, had hypospadias only. Hearing loss was found in 3 of the 4 males with imperforate anus and in 2 of the presumptive carrier females.
Inheritance \- X-linked GI \- Imperforate anus \- Ectopic anus \- Hypospadias Ears \- Hearing loss ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| ANUS, IMPERFORATE | c3495676 | 29,686 | omim | https://www.omim.org/entry/301800 | 2019-09-22T16:18:46 | {"doid": ["10488"], "mesh": ["D000071056"], "omim": ["301800"], "icd-10": ["Q42.3"], "orphanet": ["557"]} |
Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Metaphyseal acroscyphodysplasia | c1855243 | 29,687 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1240 | 2021-01-23T19:05:15 | {"gard": ["3519"], "mesh": ["C537350"], "omim": ["250215"], "umls": ["C1855243"], "icd-10": ["Q78.5"], "synonyms": ["Bellini syndrome", "Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome"]} |
Abortion in Poland is, as of 27 November 2020[update], legal only in cases of rape and incest, when the woman's life or health is at risk, or if the fetus is irreparably damaged.[1][2] On 22 October 2020, Poland's constitutional court ruled that abortion due to fetal defects was unconstitutional.[3] Massive protests followed the ruling.[4]
In 2016, with proposed legislation to completely outlaw abortion, 30,000 women went on strike and marched in cities across the country to protest the legislation, leading high-ranking politicians to distance themselves from the proposed law.[5] Just three days after the strike, lawmakers voted against the new law.[6]
Poland is one of the few countries in the world to largely outlaw abortion after decades of permissive legislation (during Communist rule). Polish women often seek abortion in neighbouring countries due to the strict restraints in their own country.[5] Poland's abortion law is one of the most restrictive in Europe, along with a group of other traditionally Catholic countries of the region (Malta, San Marino, Liechtenstein, Vatican, Monaco and Andorra).[7]
## Contents
* 1 Legal status
* 2 History
* 2.1 20th century
* 2.2 21st century
* 2.3 Current debate
* 3 2015–2016
* 3.1 Proposed abortion ban
* 3.2 Black Protest
* 4 2020
* 4.1 2020 Constitutional Tribunal ruling
* 5 Public opinion
* 6 Statistics
* 6.1 Legal abortions
* 6.2 Illegal abortions
* 6.3 Abortions abroad
* 7 See also
* 8 References
## Legal status[edit]
As of 27 November 2020, abortion is banned in Poland, except in the following circumstances:[8]
1. when the woman's life or health is endangered by the continuation of pregnancy.
2. when the pregnancy is a result of a criminal act.
3. when there is a high probability of a severe and irreversible fetal impairment.
The third case was ruled unconstitutional on 22 October 2020.[4] The ruling will take effect from the day of its publication in the Journal of Laws,[9] which had not happened as at 27 November 2020.[10]
Unlike in other countries where abortion is banned, women in Poland are not subject to a penalty for illegal termination of pregnancy; the medical personnel ordering and carrying out the abortion are subject to criminal penalties including imprisonment. Consent of a physician is required for circumstance (1) above, while abortions in view of circumstance (2) above must be certified by a prosecutor. Parental consent is always required if the woman seeking abortion is a minor.[11]
In addition, persuading a woman to carry out an illegal termination of her pregnancy is a criminal act.
## History[edit]
### 20th century[edit]
Until 1932, abortion was banned in Poland without exceptions. In that year, the new Penal Code legalised abortion only when there were medical reasons and, for the first time in Europe, when the pregnancy resulted from a criminal act.[12] Except during the German occupation during the Second World War, this law was in effect from 1932 to 1956. In Nazi Germany, which included territories of Poland 1939–1945, the penalties for abortion were increased, especially for providing an abortion to an "Aryan" woman. Abortion was permitted if the fetus was deformed or disabled.[13]
In 1956, the Sejm legalised abortion in cases where the woman was experiencing "difficult living conditions". The interpretation of the change in the law varied from a restrictive interpretation, in the late 1950s, to one in which abortion was allowed on request, in the 1960s and 1970s. It was not uncommon that women from countries where abortions were restricted, such as Sweden, travelled to Poland to carry out abortions which were accessible and affordable there.[13] The procedural requirements needed for obtaining a legal abortion were changed several times over the years, in 1956, 1959, 1969, 1981 and 1990.[14]
The most important change was that of 1990, after the end of Communist rule, when Ordinance of 30 April 1990 made access to abortion more difficult. A major change came in 1993, when the law was further tightened, removing entirely the "difficult living conditions" as a ground for abortions. As such, abortions could be legally obtained only in cases of serious threat to the life or health of the pregnant woman, as attested by two physicians, cases of rape or incest confirmed by a prosecutor, and cases in which prenatal tests, confirmed by two physicians, demonstrated that the fetus was seriously and irreversibly damaged.[14]
### 21st century[edit]
Almost all legal abortions in Poland are performed[when?] on the grounds of fetal defects.
In June 2011, Polish anti-abortion NGOs collected over 500,000 signatures for a proposed bill to ban abortion in Poland altogether. The bill, while rejected by a majority of the MPs, got enough support to be sent to a Sejm committee for further amendments. The move was criticised by two right-wing opposition parties, Law and Justice and Poland Comes First, which expressed their support for the bill. The left-wing Democratic Left Alliance pursues a pro-choice policy and was against the bill. The ruling Civic Platform, while considering itself in favour of the current legislation, was divided on the matter; more than 60 of the party's MPs voted in favour of the bill.[15]
Poland is one of Europe's most strongly Catholic countries, but there was no public pressure for this[clarification needed]. For years[quantify] opinion polls said a clear majority[data unknown/missing] of Poles opposed a more restrictive law.
Bishops and lay Catholic groups pressured the governing Law and Justice party to impose a stricter law. The party supports traditional Catholic values but changing it was problematic. There was opposition both in parliament and on the streets. In 2016 an estimated 100,000 people, mostly women, protested to block an attempt to tighten the law.[16]
Abortion rights advocates say those numbers reflect the restrictions already in effect, which make it all but impossible for Polish women to obtain a legal abortion, prompting them to seek an illegal abortion or to have an abortion abroad.
"In practice it takes weeks, sometimes months," to obtain a legal abortion, said Karolina Wieckiewicz, a lawyer and activist with the group Abortion Without Borders (Polish: Aborcja bez granic). "Some people decide to risk the battle in Poland; others look for alternatives."
Dunja Mijatovic, the human rights commissioner of the Council of Europe, which advocates for rights and democratic rule, noted that situation in criticizing the court decision.
Protest in Gdańsk against Poland's new abortion laws 24.10.2020
On 22 October 2020, Polish Constitutional Tribunal found that abortion in the case of severe fetal defects is inconsistent with Article 38 of the Polish Constitution.
The chief justice, Julia Przyłębska, said in a ruling that existing legislation – one of Europe's most restrictive – that allows for the abortion of malformed fetuses was incompatible with the constitution. After the ruling goes into effect, abortion will only be permissible in Poland in the case of rape, incest or a threat to the mother’s health and life, which make up only about 2% of legal terminations conducted in recent years.[17]
Support was expressed by Kaja Godek, who additionally supports the prohibition of abortion when conception occurs as a result of rape. The anti-abortion activist was asked on Radio Zet about the remaining cases of termination of pregnancy. The second option allows abortion if the pregnancy resulted from a prohibited act, such as rape (up to 12 weeks from conception). Godek stated, "I trust that this regulation will also be abolished, because we are for the full protection of life. A child conceived of rape is also a victim of rape. It has the right to conceive."[18]
### Current debate[edit]
Further information: Religion in Poland and Catholic Church in Poland
Poland is a country strongly influenced by Roman Catholicism, and religion often influences politics and social views. Abortion is a controversial topic in Polish politics. The question of an anti-abortion constitutional amendment was one of the reasons for the split in the Law and Justice (PiS) party and the creation of Prawica Rzeczypospolitej, led by Marek Jurek.[citation needed]
Law and Justice (PiS), is a national-conservative[19][20] political party in Poland. With 235 seats in the Sejm and 48 in the Senate, it is the largest party in the Polish parliament as of 2020[update].
## 2015–2016[edit]
### Proposed abortion ban[edit]
In September 2015, a civil initiative to introduce a complete ban on abortion was rejected in the Sejm. 178 of MPs backed the measure, while 206 voted against.[21]
In April 2016, Polish organizations proposed amended legislation to ban abortion in all cases except to save the woman's life.[22] The bill included penalties to abortion providers with up to five years of imprisonment.[23] The bill passed and was debated in Sejm, beginning 22 September 2016. The Sejm voted with majority in favour of continuing work on the bill.[24] A competing bill, proposing liberalisation of abortion laws and also supported by a civil initiative that succeeded in gathering the required number of signatures, was rejected outright in the same session of Sejm.[24] If the law had passed, Poland's abortion restrictions would have mirrored those of Malta and the Vatican, the two countries in Europe with the strongest restrictions on abortion.[25]
### Black Protest[edit]
Agnieszka Dziemianowicz-Bąk of the Razem National Board during the 2016 protests against a total ban on abortion
On 22 September 2016, on the day when the bill to ban abortion was debated in Sejm, the Razem party organized a demonstration called "Czarny Protest" ("Black Protest"), initiated by party member Małgorzata Adamczyk. This was part of a larger campaign, in which people published selfies in black clothing in social media, tagged #czarnyprotest (#blackprotest).[26] In the subsequent days, similar protests were being organized in other Polish cities, such as Wrocław, Łódź and Kraków. Thousands of people took part in the protests in various parts of Poland.[27][28] On 1 October 2016, a large protest also took place near the Sejm building, organized by Barbara Nowacka of Inicjatywa Polska, who had collected signatures under a citizens' bill to liberalize the Polish abortion law.[29]
On 3 October 2016, thousands of Polish women went on strike to oppose the proposed legislation for a total ban on abortion, called "Czarny Poniedziałek" ("Black Monday"), originally proposed in a Facebook post by Polish actress Krystyna Janda.[25][30] The women modeled their strike on the successful strike for women's rights in Iceland in 1975, refusing to attend school, work, or participate in domestic chores.[25] The pro abortion protesters marched in Warsaw, Gdańsk, Łódź, Wrocław, and Kraków, and demonstrators across Europe marched in solidarity.[2] Approximately 98,000 protestors showed up to decry the new bill.[5][31] Supporters of the new legislation held counterprotests and Catholic Masses to express alignment with the abortion ban.[2]
By 5 October 2016, politicians were distancing themselves from the proposed legislation.[5] On 6 October, lawmakers voted the bill down with plans to present a counterproposal from the government.[32]
In 2016, Foreign Policy magazine included Agnieszka Dziemianowicz-Bąk of the Razem party and Barbara Nowacka of Inicjatywa Polska, on its annual list of the 100 most influential global thinkers for their role in organizing protests against a total ban on abortion in Poland.[33] In 2018, Forbes magazine included Marcelina Zawisza on its annual European Forbes 30 Under 30 list in the "Law & Policy" category for her role as a co-founder of Razem and one of the organizers of "black protest".[34]
This protest inspired a similar event in Ireland, Strike 4 Repeal, to repeal the Ireland's Eight Amendment which bans abortion in nearly all cases.[35]
What was especially powerful about the Black Protest was the fact that there were events organized in smaller locations, too.[36]
The Polish Black Protests sparked protests in a number of cities cities internationally.[citation needed]
The protest activities included not only demonstrating in the streets but also (depending on the location) high school students strikes, men's support events, queer community solidarity events, sending letters, changing profile pictures in the social media, fundraising events, entrepreneurs support, doctoral students’ strike, prenatal testing, collective meditation, a running race, etc.
Symbols of the protest included umbrellas and coat hangers. Specific weather conditions on 3 October 2016 contributed to establishing a symbol of the latest women's protests in Poland. It was raining during that day but still, thousands of people attended events, bringing their umbrellas to demonstrations to protect themselves from the rain. It also had its symbolic dimension - crowds visually changed into a sea of umbrellas which embodied the purpose of the Black Protest - protecting women from proposed legislation that would restrict their reproductive rights. Coat hangers were brought to the demonstrations as a symbol of the simplest and most primitive instrument that could be used for conducting abortion. Earlier in 2016 (in April), coat hangers were also sent by citizens to the contemporary Prime Minister of Poland, Beata Szydło, as a protest against her support for the abortion ban.[37]
However, though social media has empowered Polish women, for some it has led to being ostracized by family members or colleagues, and has even cost them their careers. Among the most mediatized instances was that of Ewa Wnorowska, an educator in Zabrze who has dedicated her life to helping students at a school for children with disabilities. On the day of the first Black Protest, as the movement in support of women's rights in Poland became known, she took a photograph with eleven other colleagues, all wearing black, to show solidarity with the cause. Unbeknownst to her at the time of posting, the photograph gained national traction; it was being splashed over Polish newspapers, social media, and debated far and wide. One of her male colleagues reposted the image with inflammatory comments, and lodged a formal complaint in front of the Disciplinary Board of Education against her.[38] Since then, Human Rights Watch published a 75-page report in February 2019 titled "'The Breath of the Government on My Back': Attacks on Women's Rights in Poland," which has found that government agencies have dragged employees who support women's rights protests or collaborate with women's rights groups before disciplinary hearings and threatened their jobs. The report argued that these were not exceptional cases. A climate of fear arose in Poland, where cases like Wnorowska's were used to show ordinary people that speaking out against the government has consequences.
Although the strikes did not result in a complete reversal of anti-abortion laws in Poland, it brought the conversation of women's reproductive rights to national attention. Thousands of women wore black in solidarity with the cause.[39] Moreover, the protest succeeded in deterring the government from passing a proposed law that would restrict all abortions.[40]
## 2020[edit]
### 2020 Constitutional Tribunal ruling[edit]
2020 Polish protests in Kraków
Main article: October 2020 Polish protests
On 22 October 2020, the Constitutional Tribunal, consisting mainly of judges appointed by the ruling party Law and Justice (PiS), declared the law authorising abortions for malformed fetuses to be unconstitutional, effectively banning most of the small number of official abortions carried out in Poland.[41] Street protests by people opposed to the ruling took place on 22 October, and in 60 Polish towns on the night of 23 October, and again on 24 October, in the town centres, in front of PiS offices, and in front of the office of religious administrations.[4] On 25 October, protesters staged sit-ins in Catholic churches, disrupting Sunday Mass in several cities, including Katowice and Poznań.[42]
On 23 October, the prime minister Mateusz Morawiecki issued an order for the Military Gendarmerie to help the civilian police in the "protection of safety and public order" starting from 28 October 2020 (a nationwide women's strike is scheduled for that day[43]). The official reason for the order was the COVID-19 pandemic in Poland.[44] TVN24 commented that the order was issued during the women's rights protests. The Polish Ministry of Defence stated on Twitter that the Military Gendarmerie's policing role was "standard" and unrelated to the women's rights protests.[45]
UN independent human rights experts criticize the Poland court’s ruling for a near complete ban on abortions on the grounds of fatal or severe foetal impairment. They also called the Polish authorities to respect the rights of men and women protesting against the court's ruling.[46]
On 30 October 2020, about 100,000 people took to the streets of Warsaw in a protest against the Polish authorities over the ruling on abortion rights.[47]
## Public opinion[edit]
Belief that abortion is appropriate (Feb 2014 CBOS poll)[48]
answers %
Inappropriate
65
Appropriate
27
Don't know
8
Support for abortion on request (Nov 2014 CBOS poll)[49]
answers %
Oppose
55
Support
37
Neutral
8
Support for abortion on request (Apr 2019 Kantar poll)[50]
up to the 12th week of pregnancy
answers %
Oppose
35
Support
58
Neutral
7
Support for abortion in Poland (Oct 2020 Kantar poll)[51]
answers %
Should be illegal
11
Only in certain circumstances
62
On demand
22
Don't know
5
In a 2014 poll on abortion by the CBOS Public Opinion Research Center, 65% of Poles viewed abortion as immoral and unacceptable and only 27% viewed it as acceptable, a drop of 4% compared to an older poll from 2009.[48] In a CBOS poll from February 2014, more than half of the participants (55%) opposed the right to abortion on request. Furthermore, 71% of the participants believed abortion on request was inappropriate. At the same time, over one-third (37%) thought that abortion should be permitted.[49]
Surveys indicate a conservative turn in the 1990s. Although the supporters of legal abortion prevailed, the difference continuously narrowed. In 2006, when the discussion about introducing a constitutional ban on abortion was publicly conducted, the opponents of legal abortion were for the first time more numerous than supporters of abortion rights. At present the proportions have returned to 2007 levels, when both groups were about equal in size.
Most Poles accept abortion in cases when it is legal under current law. The support for abortion rights when mother's life is in danger is almost universal (87%). Over three-quarters of respondents think that it should be available for women whose pregnancy threatens their health (78%), or was caused by rape or incest (78%). Three-fifths (60%) support the right to abortion if it is known that the child would be handicapped.[citation needed]
The support for legal abortion in cases when it is currently banned is much lower. About a quarter think that it should be legal if the woman is in a difficult material (26%) or personal (23%) situation. Almost one in five respondents (18%) think abortion should be legal if a woman does not want to have a child.[52]
A poll from 2013 showed that 49% of Poles support current legislation on abortion, 34% think it should be liberalised and 9% think it should be more restrictive.[53]
A CBOS poll from 2013 found that 75% of Poles think abortion is "always wrong and can never be justified". Only 7% thought there was "nothing wrong with it and could always be justified".[54]
In a Pew Research poll from 2017, 8% of Polish respondents believed abortion should be legal in all cases and 33% that it should be legal in most cases. On the other hand, 38% believed that it should be illegal in most cases and 13% that it should be illegal in all cases.[55]
In a poll from 2019, 58% of respondents said that "Women in Poland should have the right to abortion on demand up to the 12th week of pregnancy", 35% was against and 7% of respondents had no opinion on that topic.[50]
A poll undergone during the first week of the October-November 2020 Polish protests found that 22% of respondents support abortion on demand to the 12th week of preganancy, 62% support it only in certain circumstances, 11% support making abortion fully illegal while 5% are undecided.[51]
## Statistics[edit]
### Legal abortions[edit]
The Polish Ministry of Health publishes yearly official data on legal abortions and their reasons. The number has been stable over the years, between 1,000 and 2,000. In 2019, there were 1110 legal abortions, 1074 of them were for cases of fetal defects. Among these, 271 were for Down's syndrome without other anomalies, and 60 cases were for Patau syndrome or Edward's syndrome without other anomalies.[56]
### Illegal abortions[edit]
Estimates vary as to how many illegal abortions are carried out each year.
The Federation for Women and Family Planning [pl], a feminist NGO, gives a range between 80,000 and 200,000 abortions,[57] and about a quarter of all Polish women had terminated a pregnancy. The Public Opinion Research Center has the same estimate[citation needed].
The BBC also reported estimates of illegal abortions per year ranging between 10,000 and 150,000, compared to only 1,000–2,000 legal abortions.[58][59]
Another way to guess the number of illegal abortions in Poland is to look at worldwide behavior and trends. According to Sedgh, Singh, Henshaw and Bankole in a 2012 article published in The Lancet,[60] drawing on various reports, the number of fertile women (aged 15–44) who undergo an abortion ranges between about 10 to 40 abortions per 1000 women, for the 2000s, "in all regions of the world, regardless of the status of abortion laws"; this would imply lower to upper estimates of yearly abortions by Polish women of about 75,000 to 300,000.
### Abortions abroad[edit]
Many Polish doctors refuse to perform lawful abortions due to being conscientious objectors,[61] while other doctors face justice if they assist an illegal abortion.
A 2010 study[citation needed] that estimated at between 80,000 and 200,000 pregnancy terminations each year, said that 10 to 15% seek their abortion abroad.[57]
For those women going abroad, Germany, Slovakia, and the Czech Republic are among the more popular destinations for abortions, with the UK, Austria, and Ukraine other countries women travel to for abortions.[62][63]
## See also[edit]
* Tysiąc v. Poland
* P. and S. v. Poland
## References[edit]
1. ^ "Poland: Nationwide protests against further restrictions to abortion". www.amnesty.org.
2. ^ a b c "Polish Women Hold 'Black Monday' Strike To Protest Proposed Abortion Ban". Retrieved 5 October 2016.
3. ^ Warsaw, Staff and agencies in (22 October 2020). "Poland rules abortion due to fetal defects unconstitutional". the Guardian.
4. ^ a b c Szczęśniak, Agata (24 October 2020). "'Boję się żyć w Polsce', 'Nasza godność, wasza podłość'. Tak protestuje Polska" ['I'm afraid to live in Poland', 'Our dignity, your disgrace'. Thus Poland protests]. OKO.press (in Polish). Archived from the original on 25 October 2020. Retrieved 25 October 2020.
5. ^ a b c d Davies, Christian (5 October 2016). "Polish government signals U-turn on total abortion ban". The Guardian. ISSN 0261-3077. Retrieved 5 October 2016.
6. ^ "Polish women hail victory in abortion standoff and seek more". The Big Story. Retrieved 6 October 2016.
7. ^ Radu, Sintia (24 May 2018). "Abortion Not Allowed in These European Countries". U.S. News & World Report. Retrieved 28 October 2020.
8. ^ Abortion Policies: A Global Review. United Nations Publications. 2002. ISBN 92-1-151365-0.
9. ^ "The Constitution of the Republic of Poland". Article 190, Act of 2 April 1997.
10. ^ https://www.canberratimes.com.au/story/7030975/brussels-and-poland-clash-on-abortion/
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19. ^ Hloušek, Vít; Kopeček, Lubomír (2010), Origin, Ideology and Transformation of Political Parties: East-Central and Western Europe Compared, Ashgate, p. 196
20. ^ Nodsieck, Wolfram, "Poland", Parties and Elections in Europe, retrieved 28 March 2012
21. ^ "Sejm rejects citizens' initiative to ban abortion". WBJ. Archived from the original on 9 October 2016. Retrieved 6 October 2016.
22. ^ "No exceptions". The Economist. 16 April 2016. ISSN 0013-0613. Retrieved 5 October 2016.
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24. ^ a b "Polnisches Parlament will Abtreibungen komplett verbieten". The Huffington Post. Archived from the original on 7 October 2016. Retrieved 6 October 2016.
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26. ^ PTWP. "Zaostrzenie prawa aborcyjnego? Czarny protest Partii Razem - sejm-rząd Wydarzenia". www.parlamentarny.pl. Retrieved 19 July 2017.
27. ^ "#CzarnyProtest we Wrocławiu". 25 September 2016. Retrieved 19 July 2017.
28. ^ Makarewicz, Nicole. "Czarny protest na Rynku Głównym w Krakowie. "Piekło kobiet trwa" [ZDJĘCIA, WIDEO]". Retrieved 19 July 2017.
29. ^ "'Czarny protest' przed Sejmem" ['Black protest' in front of the Sejm]. Puls Biznesu (in Polish). 1 October 2016. Archived from the original on 13 November 2020. Retrieved 13 November 2020.
30. ^ "Janda wezwała kobiety do strajku i się zaczęło. Dziesiątki tysięcy osób skrzykują się na Facebooku". Retrieved 19 July 2017.
31. ^ Polska, Grupa Wirtualna (4 October 2016). ""Czarny protest". Manifestacje w wielu miastach w Polsce. Ile osób wzięło udział w demonstracjach?". Retrieved 19 July 2017.
32. ^ "Polnisches Parlament kippt völliges Abtreibungsverbot". Die Presse. 6 October 2016. Retrieved 19 July 2017.
33. ^ "Foreign Policy's Annual List of the 100 Top Global Thinkers". Foreign Policy. Retrieved 12 December 2016.
34. ^ "Marcelina Zawisza". Forbes. 22 January 2018. Retrieved 22 January 2018.
35. ^ Edwards, Elaine; Flaherty, Rachel (8 March 2017). "Thousands march against Eighth Amendment in Dublin". The Irish Times.
36. ^ "Ogólnopolski Strajk Kobiet". www.facebook.com. Retrieved 7 July 2020.
37. ^ Polska, Wirtualna. "Wirtualna Polska - Wszystko co ważne - www.wp.pl". www.wp.pl (in Polish). Retrieved 7 July 2020.
38. ^ "Witness: Supporting Women's Rights in Poland Could End Your Career". Human Rights Watch. 6 February 2019. Retrieved 7 July 2020.
39. ^ "Polish women strike against abortion ban". BBC News. 3 October 2016. Retrieved 7 July 2020.
40. ^ "Polish Women Hold 'Black Monday' Strike To Protest Proposed Abortion Ban". NPR.org. Retrieved 7 July 2020.
41. ^ "Statista: Number of legal abortions reported in Poland from 1994 to 2019, by reason".
42. ^ Ptak, Alicja; Stezycki, Kuba (26 October 2020). "Polish protesters disrupt church services over near-total abortion ban". Thomson Reuters. Archived from the original on 26 October 2020. Retrieved 26 October 2020.
43. ^ "Środa wolna od pracy? Kolejny dzień protestu przeciw wyrokowi Trybunału Konstytucyjnego". bankier.pl. 26 October 2020.
44. ^ Mateusz, Morawiecki (23 October 2020). "Zarządzenie Nr 180 Prezesa Rady Ministrów z dnia 23 października 2020 r." [Decree No 180 of the President of the Council of Ministers of 23 October 2020] (PDF). government of Poland. Archived (PDF) from the original on 26 October 2020. Retrieved 26 October 2020.
45. ^ "Żandarmeria Wojskowa skierowana do pomocy policji. Ministerstwo obrony: to standardowe działania" [Military Gendarmerie ordered to help the police. Ministry of Defence: it's a standard procedure]. TVN24 (in Polish). 26 October 2020. Archived from the original on 26 October 2020. Retrieved 26 October 2020.
46. ^ "Poland 'slammed the door shut' on legal and safe abortions: Human rights experts". UN News. Retrieved 27 October 2020.
47. ^ "Pro-choice supporters hold biggest-ever protest against Polish government". The Guardian. Retrieved 30 October 2020.
48. ^ a b Rafał Boguszewski (February 2014). "RELIGIJNOŚĆ A ZASADY MORALNE" (PDF) (in Polish). CBOS. Retrieved 6 July 2015.
49. ^ a b Natalia Hipsz (November 2014). "PRAWO A MORALNOŚĆ – OPINIE O ZACHOWANIACH KONTROWERSYJNYCH SPOŁECZNIE" (PDF) (in Polish). CBOS. Retrieved 6 July 2015.
50. ^ a b "Sondaż: Rośnie poparcie dla aborcji na żądanie do 12. tygodnia ciąży". newsweek.pl. 17 April 2019.
51. ^ a b "Sondaż: orzeczenie Trybunału Konstytucyjnego w sprawie aborcji popiera 13 procent pytanych". TVN24 (in Polish). Retrieved 28 October 2020.
52. ^ http://www.cbos.pl/PL/publikacje/public_opinion/2010/07_2010.pdf
53. ^ INTERIA.PL. "CBOS: Większość Polaków popiera obecne prawo dotyczące aborcji". Retrieved 19 July 2017.
54. ^ Rafał Boguszewski (August 2013). "Wartości i normy" (PDF) (in Polish). CBOS. Retrieved 6 July 2015.
55. ^ "Central and Eastern Europe | Final Topline | Religious Belief and National Belonging in Central and Eastern Europe" (PDF). Pew Research Center. Retrieved 28 October 2020.
56. ^ Zakolska, Olga (18 August 2020). "Oficjalne dane o legalnej aborcji w Polsce: 1110 zabiegów przerwania ciąży w 2019 r." [Official data on legal abortion in Poland: 1110 abortion operations in 2019]. Puls Medyczny (in Polish). Archived from the original on 31 October 2020. Retrieved 31 October 2020.
57. ^ a b Hirvonen, Ewa (28 November 2017). "Polish Abortion Tourism" (PDF). Laurea University of Applied Sciences. Archived (PDF) from the original on 11 November 2020. Retrieved 11 November 2020.
58. ^ "Poland's tussle over abortion ban". 6 October 2016. Retrieved 19 July 2017 – via www.bbc.com.
59. ^ "Stop this crackdown on abortion in Poland". 21 September 2016. Retrieved 19 July 2017 – via The Guardian.
60. ^ Sedgh, G.; Singh, S.; Shah, I.H.; Åhman, E.; Henshaw, S.K.; Bankole, A. (2012). "Induced abortion: Incidence and trends worldwide from 1995 to 2008" (PDF). The Lancet. 379 (9816): 625–32. doi:10.1016/S0140-6736(11)61786-8. PMID 22264435. S2CID 27378192. Archived (PDF) from the original on 6 February 2012. "Because few of the abortion estimates were based on studies of random samples of women, and because we did not use a model-based approach to estimate abortion incidence, it was not possible to compute confidence intervals based on standard errors around the estimates. Drawing on the information available on the accuracy and precision of abortion estimates that were used to develop the subregional, regional, and worldwide rates, we computed intervals of certainty around these rates (webappendix). We computed wider intervals for unsafe abortion rates than for safe abortion rates. The basis for these intervals included published and unpublished assessments of abortion reporting in countries with liberal laws, recently published studies of national unsafe abortion, and high and low estimates of the numbers of unsafe abortion developed by WHO."
61. ^ https://www.nytimes.com/aponline/2016/10/06/world/europe/ap-eu-poland-abortion.html?_r=0[dead link]
62. ^ Shubert, Atika; Mortensen, Antonia (23 March 2018). "As Poland mulls new abortion bill, women head to Germany". CNN. Retrieved 28 October 2020.
63. ^ Cocotas, Alex (30 November 2017). "How Poland's far-right government is pushing abortion underground". The Guardian. Retrieved 28 October 2020.
* v
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Abortion in Europe
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Abortion in Poland | None | 29,688 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Poland | 2021-01-18T18:28:03 | {"wikidata": ["Q4668484"]} |
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term).
## Epidemiology
Prevalence is unknown. Annual incidence at birth of glycogenosis due to G6P deficiency is around 1/100,000. Type a is the more frequent type, affecting about 80% of patients.
## Clinical description
The disease may manifest at birth by enlarged liver or, more commonly, between the ages of three to four months by symptoms of fast-induced hypoglycemia (tremors, seizures, cyanosis, and apnea). Patients present disturbed glucose homeostasis usually characterized by poor tolerance to fasting, significant hepatomegaly (sometimes eight to ten cm below the right costal margin), growth retardation (short stature and delayed puberty), generally improved by an appropriate diet, osteopenia and, in some cases, osteoporosis, round doll-like facial appearance with full cheeks, mild hypotonia, nephromegaly, and platelet dysfunction that may lead to frequent epistaxis. Diarrhea may be encountered. Late complications are hepatic (adenomas with rare but possible transformation into hepatocellular carcinoma) and renal (glomerular hyperfiltration leading to proteinuria and sometimes to renal failure), but also include anemia, sometimes severe, and a risk of hypoglycemic brain damage. Pulmonary hypertension has been reported in few cases.
## Etiology
The disease is due to a dysfunction in the G6P system, a key step in glycemia regulation. Type a is due to mutations in the G6PC gene (17q21), which cause a deficit of the catalytic subunit G6P-alpha expressed in the liver, kidney and intestine. Many mutations have been identified, illustrating the allelic heterogeneity of the condition.
## Genetic counseling
Transmission is autosomal recessive.
## Management and treatment
Management is similar in both types of glycogenosis due to G6P deficiency (see this term).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia | c0017920 | 29,689 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79258 | 2021-01-23T19:04:36 | {"mesh": ["D005953"], "omim": ["232200"], "umls": ["C0017920", "C2919796"], "icd-10": ["E74.0"], "synonyms": ["G6P deficiency type 1a", "GSD due to G6P deficiency type 1a", "GSD due to G6P deficiency type Ia", "GSD type 1a", "GSDIa", "Glycogen storage disease due to G6P deficiency type Ia", "Glycogen storage disease type 1a", "Glycogenosis due to glucose-6-phosphatase deficiency type 1a", "Glycogenosis due to glucose-6-phosphatase deficiency type Ia", "Glycogenosis type Ia"]} |
Familial HDL deficiency is a condition characterized by low levels of high-density lipoprotei% (HDL) in the blood. HDL is a molecule that transports cholesterol and certain fats called phospholipids through the bloodstream from the body's tissues to the liver. Once in the liver, cholesterol and phospholipids are redistributed to other tissues or removed from the body. HDL is often referred to as "good cholesterol" because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. People with familial HDL deficiency may develop cardiovascular disease at a relatively young age, often before age 50.
Severely reduced levels of HDL in the blood is a characteristic feature of a related disorder called Tangier disease. People with Tangier disease have additional signs and symptoms, such as disturbances in nerve function; enlarged, orange-colored tonsils; and clouding of the clear covering of the eye (corneal clouding). However, people with familial HDL deficiency do not have these additional features.
## Frequency
Familial HDL deficiency is a rare disorder, although the prevalence is unknown.
## Causes
Mutations in the ABCA1 gene or the APOA1 gene cause familial HDL deficiency. The proteins produced from these genes work together to remove cholesterol and phospholipids from cells.
The ABCA1 gene provides instructions for making a protein that removes cholesterol and phospholipids from cells by moving them across the cell membrane. The movement of these substances across the membrane is enhanced by another protein called apolipoprotein A-I (apoA-I), which is produced by the APOA1 gene. Once outside the cell, the cholesterol and phospholipids combine with apoA-I to form HDL. ApoA-I also triggers a reaction that converts cholesterol to a form that can be fully integrated into HDL and transported through the bloodstream.
ABCA1 gene mutations and some APOA1 gene mutations prevent the release of cholesterol and phospholipids from cells. Other mutations in the APOA1 gene reduce the protein's ability to stimulate the conversion of cholesterol. These ABCA1 and APOA1 gene mutations decrease the amount of cholesterol or phospholipids available to form HDL, resulting in low levels of HDL in the blood. A shortage (deficiency) of HDL is believed to increase the risk of cardiovascular disease.
### Learn more about the genes associated with Familial HDL deficiency
* ABCA1
* APOA1
## Inheritance Pattern
Familial HDL deficiency is inherited in an autosomal dominant pattern, which means an alteration in one copy of either the ABCA1 or the APOA1 gene in each cell is sufficient to cause the disorder. People with alterations in both copies of the ABCA1 gene develop the related disorder Tangier disease.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Familial HDL deficiency | c2931838 | 29,690 | medlineplus | https://medlineplus.gov/genetics/condition/familial-hdl-deficiency/ | 2021-01-27T08:25:24 | {"gard": ["2872"], "mesh": ["C538394"], "omim": ["604091"], "synonyms": []} |
Franceschini et al. (2004) observed 2 male sibs with features suggestive of Meckel syndrome (see MKS; 249000), including occipital encephalocele, polycystic kidneys, and polydactyly, but who also had short, incurved distal long bones and triradiate acetabula. The latter feature had not previously been reported in MKS, nor had it been seen with occipital encephalocele. Franceschini et al. (2004) noted that although short and bowed limbs are seen in about 15% of MKS cases (Majewski et al., 1983), the severity, bilaterality, and absolute symmetry of lower limb malformations in both sibs and the association with triradiate acetabula suggested a distinct syndrome.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| CEREBRORENODIGITAL SYNDROME WITH LIMB MALFORMATIONS AND TRIRADIATE ACETABULA | c0265215 | 29,691 | omim | https://www.omim.org/entry/609345 | 2019-09-22T16:06:12 | {"omim": ["609345"], "orphanet": ["564"]} |
A number sign (#) is used with this entry because of evidence that Lichtenstein-Knorr syndrome (LIKNS) is caused by homozygous mutation in the SLC9A1 gene (107310) on chromosome 1p36. One such family has been reported.
Description
Lichtenstein-Knorr syndrome is an autosomal recessive neurologic disorder characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia. Features usually develop in childhood or young adulthood (summary by Guissart et al., 2015).
Clinical Features
Heras Perez et al. (1986) reported a 5-generation family in which 8 individuals had severe progressive deafness and ataxia. Affected individuals had deafness beginning in infancy and were completely deaf by age 20 years; ataxia began in adolescence and resulted in loss of ability to walk at approximately age 30. The phenotype was consistent with Lichtenstein-Knorr syndrome.
Barbieri et al. (1986) reported a 43-year-old man who developed progressive and complete sensorineural hearing loss at age 25 and progressive cerebellar ataxia at age 30. Features of cerebellar ataxia included marked dysarthria, dizziness, and broad-based unsteady gait. Vibration sense was slightly impaired, and reflexes and muscle tone were slightly decreased. There was no family history of a similar disorder. Brain imaging showed cerebellar atrophy. Barbieri et al. (1986) concluded that the phenotype was most consistent with Lichtenstein-Knorr disease.
Striano et al. (1989) reported a 12-year-old girl, born of unrelated parents, who developed rapidly progressive sensorineural hearing loss at age 7 years. Around the same time, she developed progressive gait disturbances resulting in frank ataxia. Additional features included action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Cognitive development was normal. Brain MRI showed thickening of the gray matter in the cortex and basal ganglia, reduction in the supra- and infratentorial white matter, and a hypoplastic corpus callosum.
Guissart et al. (2015) reported 3 sibs, born of consanguineous Turkish parents, with early-onset cerebellar ataxia and deafness. All patients had normal early development, but walking was delayed until ages ranging from 18 months to 5 years with aid. They later showed gait and limb ataxia with dysdiadochokinesis and dysmetria. Upper and lower limb areflexia suggested a peripheral neuropathy. Severe to profound sensorineural deafness was diagnosed between 12 and 20 months, and 2 patients showed lack of language and response on auditory-evoked stimulation. Brain imaging was normal in 1 patient, but showed very mild vermian atrophy in the other. One patient developed an episode of clonic jerks suggestive of seizures at age 14 years, but EEG was normal. The only male sib had delayed puberty and short stature at age 16.
Inheritance
The transmission pattern of LIKNS in the families reported by Heras Perez et al. (1986) and Guissart et al. (2015) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 3 sibs, born of consanguineous Turkish parents, with Lichtenstein-Knorr syndrome, Guissart et al. (2015) identified a homozygous missense mutation in the SLC9A1 gene (G305R; 107310.0001). The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Transfection of the mutation into Chinese hamster ovary cells showed that it caused reduced expression of the mutant protein (about 33% of control levels). The mutant protein was hypoglycosylated, did not localize properly to the cell surface, and had only about 2% residual activity compared to wildtype. Exome sequencing of the SLC9A1 gene in 172 additional patients with ataxia or deafness did not identify any further mutations.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature (1 patient) HEAD & NECK Ears \- Sensorineural deafness, postnatal, profound Eyes \- Nystagmus (in some patients) NEUROLOGIC Central Nervous System \- Delayed motor development \- Cerebellar ataxia \- Gait ataxia \- Limb ataxia \- Dysmetria \- Dysdiadochokinesis \- Dysarthria \- Action tremor \- Cerebellar atrophy (in some patients) Peripheral Nervous System \- Areflexia, upper and lower limbs MISCELLANEOUS \- Variable onset, from infancy to young adulthood \- Progressive disorder \- Two Chinese sibs with an SLC9A1 mutation who did not have deafness have been reported (last curated May 2019) MOLECULAR BASIS \- Caused by mutation in the solute carrier family 9, member 1 gene (SLC9A1, 107310.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| LICHTENSTEIN-KNORR SYNDROME | c4225383 | 29,692 | omim | https://www.omim.org/entry/616291 | 2019-09-22T15:49:15 | {"doid": ["0080065"], "omim": ["616291"], "orphanet": ["448251"], "synonyms": ["Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome", "SCAR19", "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 19", "Alternative titles", "Lichtenstein-Knorr syndrome"]} |
Mesoblastic nephroma
SpecialtyOncology, obstetrics and gynaecology, urology
Congenital mesoblastic nephroma, while rare, is the most common kidney neoplasm diagnosed in the first three months of life and accounts for 3-5% of all childhood renal neoplasms.[1][2] This neoplasm is generally non-aggressive and amenable to surgical removal. However, a readily identifiable subset of these kidney tumors has a more malignant potential and is capable of causing life-threatening metastases. Congenital mesoblastic nephroma was first named as such in 1967 but was recognized decades before this as fetal renal hamartoma or leiomyomatous renal hamartoma.[3]
## Contents
* 1 Presentation
* 2 Tumor pathology
* 3 Genetics
* 4 Diagnosis
* 5 Treatment
* 6 References
* 7 External links
## Presentation[edit]
Congenital mesoblastic nephroma typically (76% of cases) presents as an abdominal mass which is detected prenatally (16% of cases) by ultrasound or by clinical inspection (84% of cases) either at birth or by 3.8 years of age (median age ~1 month). The neoplasm shows a slight male preference. Concurrent findings include hypertension (19% of cases), polyhydramnios (i.e. excess of amniotic fluid in the amniotic sac) (15%), hematuria (11%), hypercalcemia (4%), and elevated serum levels of the kidney-secreted, hypertension-inducing enzyme, renin (1%). Congenital anomalies have been reported in 11 patients: 6 with genitourinary anomalies, 2 with gastrointestinal anomalies, 1 with hydrocephalus, and 1 with the Beckwith–Wiedemann syndrome. The vast majority of patients present with localized (i.e. non-metastatic) disease.[1][4] Most patients' disease is classified at presentation as stage I or II (i.e. localized), few patients present with stage III (i.e. locally advanced/infiltrating), and virtually no patients present with stage IV (metastases present or V (i.e. tumors in both kidneys) disease (see staging of renal cancer).[1]
## Tumor pathology[edit]
Congenital Mesoblastic nephroma is a malignant tumorous growth of the kidney's mesenchyme (i.e. connective tissue cells). Histologic examination of these tumors provides critical information on their prognoses. This examination divides congenital mesoblastic nephroma into three types:
* 1) The classic type occurs in ~39% of patients. Its tissues show interlaced spindle-shaped smooth muscle cells evidencing low mitotic activity with no evidence of tumor encapsulation; and infiltration into and entrapment of normal kidney tissue.[1]
* 2) The cellular type occurs in ~42% of patients.[1] Its tissues show densely packed fibrosarcoma-like cells evidencing high rates of mitosis, less infiltration of normal kidney tissue, and multiple areas of hemorrhage and cysts.[1][3]
* 3) The mixed type occurs in ~19% of patients. It shows a mixture of the classic and cellular types in different areas of the neoplasm.[1]
## Genetics[edit]
A study conducted in 1998 found that congenital mesoblastic nephroma tissues taken from some patients contained an acquired mutation, the ETV6-NTRK3 fusion gene. This gene results from a translocation of genetic material from the ETV6 gene located on the short arm (designated p) of chromosome 12 at position p13.2 (i.e. 12p13.2) to the NTRK3 gene located on the long arm (designated q) of chromosome 15 at position q25.3 (i.e. 15q25.3). This ETV6-NTRK3 gene fusion is notated as t(12;15)(p13;q25) and consists of the 5' end of ETV6 fused to the 3' end of NTRK3.[3] In consequence, the chimeric protein product of this gene lacks ETV6 protein's transcription factor activity while having NTRK3 protein's tyrosine kinase in an unregulated and continuously active form. Either event can drive the malignant growth of cells but in most cases the chimeric protein's tyrosine kinase activity appears responsible for doing so.[5] Based on a limited number of genetic studies (a total of 65 patients), the ETY6-NTRK3 fusion gene appears to occur in most cases of the cellular and some cases of the mixed but no cases of the classical types of congenital mesolastic nephroma.[1][3][6] However, a more recent study of 19 patients detected the fused gene in all 8 cases of cellular, 5 of 6 cases of mixed, and 0 of 5 cases of classic mesoblastic nephroma. This suggests that expression of this fused gene may be more common in cellar and mixed mesoblastic nephroma than previously appreciated.[3]
Trisomy, i.e. pathological presence of an extra chromosome, also occurs in these neoplasms. Trisomy of chromosome 11 (e.g. trisomy 11) appears to be the most commonly found trisomy in this disease, being detected in 7 of 13 genetically studied cases.[1] Individual case reports have also found trisomy 8 (9 cases), 17 (4 cases), 20 (4 cases), 7 (3 cases), 10 (3 cases), 18 (2 cases), 2 (2 cases), and 9 (2 cases) associated with the disease.[1][3] The contribution of these trisomies to the development of mesoblastic nephroma is unclear.
## Diagnosis[edit]
Diagnosis of mesoblastic nephroma and its particular type (i.e. classic, mixed, or cellular) is made by histological examination of tissues obtained at surgery. Besides its histological appearance, various features of this disease aid in making a differential diagnosis that distinguish it from the following childhood neoplasms:
* Wilms tumor is the most common childhood kidney neoplasm, representing some 85% of cases. Unlike mesoblastic nephroma, <2% of Wilms tumor patients present at under 3 months of age and most present in patients of >3 years of age. Bilateral kidney tumors, concurrent birth defects, and/or metastatic disease at presentation favor a diagnosis of Wilms tumor.[4]
* congenital infantile sarcoma is a rare aggressive sarcoma typically presenting in the lower extremities, head, or neck of infants during their first year of life. The histology, association with the ETV6-NRTK3 fusion gene along with certain chromosome trisomies, and the distribution of markers for cell type (i.e. cyclin D1 and Beta-catenin) within this tumor are the same as those found in cellular mesoblastic nephroma. Mesoblastic nephroma and congenital infantile sarcoma appear to be the same diseases with mesoblastic lymphoma originating in the kidney and congenital infantile sarcoma originating in non-renal tissues.[3][4][7][8]
* Rhabdoid tumor, which accounts for 5-10% of childhood kidney neoplasms, occurs predominantly in children from 1 to 2 years of age. Unlike mesoblastic nephroma, rhabdoid tumors may present with tumors in other tissues including in ~13% of cases, the brain. Rhabdoid tumors have a distinctive histology and abnormalities (i.e. loss of heterozygosity, single nucleotide polymorphism, and deletions) in chromosome 22.[9]
* Clear cell sarcoma of the kidney, which is responsible for 5-10% of childhood pediatric tumors, occurs predominantly in children from 2 to 3 years of age. Unlike mesoblastic nephroma, clear cell sarcoma of the kidney presents with metastasis, particularly to bone, in 5-6% of cases; it histology is diverse and has been mistaken for mesoblastic nephroma. One chromosomal translocations t,(10;17)(q22;p13), has been repeatedly reported to be associated with clear cell sarcoma of the kidney.[10][11]
* Infantile myofibromatosis is a fibrous tumor of infancy and childhood most commonly presenting during the first 2 years of life as a single subcutaneous nodule of the head and neck region or less commonly as multiple lesions of skin, muscle, bone, and in ~33% of these latter cases, visceral organs. All of these lesions have an excellent prognosis and can regress spontaneously except for those in which there is visceral involvement where the prognosis is poor.[12] While infantile myofibromatosis and classic mesoblastic nephroma have been suggested to be the same diseases because of their very similar histology, studies on the distribution of cell-type markers (i.e. cyclin D1 and Beta-catenin) indicate that they have different cellular origins.[3][4]
## Treatment[edit]
Based on a survey of >800, surgical removal of the entire involved kidney plus the peri-renal fat appeared curative for the majority of all types of mesoblastic nephroma; the patient overall survival rate was 94%. Of the 4% of non-survivors, half were due to surgical or chemotherapeutic treatments. Another 4% of these patients suffered relapses, primarily in the local area of surgery rare cases of relapse due to lung or bone metastasis.. About 60% of these recurrent cases had a complete remission following further treatment. Recurrent disease was treated with a second surgery, radiation, and/or chemotherapy that often vincristine and actinomycin treatment.[1] Removal of the entire afflicted kidney plus the peri-renal fat appears critical to avoiding local recurrences. In general, patients who were older than 3 months of age at diagnosis or had the cellular form of the disease, stage III disease, or involvement of renal lymph nodes had a higher recurrence rate. Among patients with these risk factors, only those with lymph node involvement are recommended for further therapy.[4]
It has been suggested that mesoblastic nephroma patients with lymph node involvement or recurrent disease might benefit by adding the ALK inhibitor, crizotinib, or a tyrosine kinase inhibitor, either larotrectinib or entrectinib, to surgical, radiation, and/or chemotherapy treatment regimens. These drugs inhibit NTRK3's tyrosine kinase activity.[1] Crizotinib has proven useful in treating certain cases of acute lymphoblastic leukemia that are associated with the ETV6-NTRK3 fusion gene while larotrectinib and entrectinib have been useful in treating various cancers (e.g. a metastatic sarcoma, papillary thyroid cancer, non-small-cell lung carcinoma, gastrointestinal stromal tumor, mammary analog secretory carcinoma, and colorectal cancer) that are driven by mutated, overly active tyrosine kinases. Relevant to this issue, a 16-month-old girl with infantile fibrosarcoma harboring the ETV6–NTRK3 fusion gene was successfully treated with larotrectinib.[1][13] The success of these drugs, however, will likely depend on the relative malignancy-promoting roles of ETV6-NTRK3 protein's tyrosine kinase activity, the lose of ETV6-related transcription activity accompanying formation of ETV6-NTRK3 protein, and the various trisomy chromosomes that populate mesoblastic nephroma.
## References[edit]
1. ^ a b c d e f g h i j k l m Gooskens SL, Houwing ME, Vujanic GM, Dome JS, Diertens T, Coulomb-l'Herminé A, Godzinski J, Pritchard-Jones K, Graf N, van den Heuvel-Eibrink MM (2017). "Congenital mesoblastic nephroma 50 years after its recognition: A narrative review". Pediatric Blood & Cancer. 64 (7): e26437. doi:10.1002/pbc.26437. PMID 28124468. S2CID 22681362.
2. ^ Lamb MG, Aldrink JH, O'Brien SH, Yin H, Arnold MA, Ranalli MA (2017). "Renal Tumors in Children Younger Than 12 Months of Age: A 65-Year Single Institution Review". Journal of Pediatric Hematology/Oncology. 39 (2): 103–107. doi:10.1097/MPH.0000000000000698. PMID 27820132. S2CID 40223322.
3. ^ a b c d e f g h El Demellawy D, Cundiff CA, Nasr A, Ozolek JA, Elawabdeh N, Caltharp SA, Masoudian P, Sullivan KJ, de Nanassy J, Shehata BM (2016). "Congenital mesoblastic nephroma: a study of 19 cases using immunohistochemistry and ETV6-NTRK3 fusion gene rearrangement". Pathology. 48 (1): 47–50. doi:10.1016/j.pathol.2015.11.007. PMID 27020209.
4. ^ a b c d e Wang ZP, Li K, Dong KR, Xiao XM, Zheng S (2014). "Congenital mesoblastic nephroma: Clinical analysis of eight cases and a review of the literature". Oncology Letters. 8 (5): 2007–2011. doi:10.3892/ol.2014.2489. PMC 4186628. PMID 25295083.
5. ^ Kar A, Gutierrez-Hartmann A (2013). "Molecular mechanisms of ETS transcription factor-mediated tumorigenesis". Critical Reviews in Biochemistry and Molecular Biology. 48 (6): 522–43. doi:10.3109/10409238.2013.838202. PMC 4086824. PMID 24066765.
6. ^ Anderson J, Gibson S, Sebire NJ (2006). "Expression of ETV6-NTRK in classical, cellular and mixed subtypes of congenital mesoblastic nephroma". Histopathology. 48 (6): 748–53. doi:10.1111/j.1365-2559.2006.02400.x. PMID 16681692. S2CID 36404121.
7. ^ Ud Din N, Minhas K, Shamim MS, Mushtaq N, Fadoo Z (2015). "Congenital (infantile) fibrosarcoma of the scalp: a case series and review of literature". Child's Nervous System. 31 (11): 2145–9. doi:10.1007/s00381-015-2824-1. PMID 26206116. S2CID 25198570.
8. ^ Walther C, Nilsson J, von Steyern FV, Wiebe T, Bauer HC, Nord KH, Gisselsson D, Domanski HA, Mandahl N, Mertens F (2013). "Cytogenetic and single nucleotide polymorphism array findings in soft tissue tumors in infants". Cancer Genetics. 206 (7–8): 299–303. doi:10.1016/j.cancergen.2013.06.004. PMID 23938179.
9. ^ Jackson EM, Sievert AJ, Gai X, Hakonarson H, Judkins AR, Tooke L, Perin JC, Xie H, Shaikh TH, Biegel JA (2009). "Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors". Clinical Cancer Research. 15 (6): 1923–30. doi:10.1158/1078-0432.CCR-08-2091. PMC 2668138. PMID 19276269.
10. ^ Gooskens SL, Furtwängler R, Vujanic GM, Dome JS, Graf N, van den Heuvel-Eibrink MM (2012). "Clear cell sarcoma of the kidney: a review". European Journal of Cancer. 48 (14): 2219–26. doi:10.1016/j.ejca.2012.04.009. PMID 22579455.
11. ^ Alavi S, Khoddami M, Yazdi MK, Dehghanian P, Esteghamati S (2013). "Clear cell sarcoma of the kidney misdiagnosed as mesoblastic nephroma: a case report and review of the literature". ecancermedicalscience. 7: 311. doi:10.3332/ecancer.2013.311. PMC 3634723. PMID 23634181.
12. ^ "Childhood Soft Tissue Sarcoma Treatment (PDQ®): Health Professional Version". PDQ Cancer Information Summaries. National Cancer Institute (US). 2002.
13. ^ Laetsch TW, Nagasubramanian R, Casanova M (2017). "Targeting NTRK fusions for the treatment of congenital mesoblastic nephroma". Pediatric Blood & Cancer. 65 (1): e26593. doi:10.1002/pbc.26593. PMID 28440051.
## External links[edit]
Classification
D
* ICD-O: 8960/1
* MeSH: D018201
* SNOMED CT: 307604008
* Congenital mesoblastic nephroma entry in the public domain NCI Dictionary of Cancer Terms
This article incorporates public domain material from the U.S. National Cancer Institute document: "Dictionary of Cancer Terms".
* v
* t
* e
Connective/soft tissue tumors and sarcomas
Not otherwise specified
* Soft-tissue sarcoma
* Desmoplastic small-round-cell tumor
Connective tissue neoplasm
Fibromatous
Fibroma/fibrosarcoma:
* Dermatofibrosarcoma protuberans
* Desmoplastic fibroma
Fibroma/fibromatosis:
* Aggressive infantile fibromatosis
* Aponeurotic fibroma
* Collagenous fibroma
* Diffuse infantile fibromatosis
* Familial myxovascular fibromas
* Fibroma of tendon sheath
* Fibromatosis colli
* Infantile digital fibromatosis
* Juvenile hyaline fibromatosis
* Plantar fibromatosis
* Pleomorphic fibroma
* Oral submucous fibrosis
Histiocytoma/histiocytic sarcoma:
* Benign fibrous histiocytoma
* Malignant fibrous histiocytoma
* Atypical fibroxanthoma
* Solitary fibrous tumor
Myxomatous
* Myxoma/myxosarcoma
* Cutaneous myxoma
* Superficial acral fibromyxoma
* Angiomyxoma
* Ossifying fibromyxoid tumour
Fibroepithelial
* Brenner tumour
* Fibroadenoma
* Phyllodes tumor
Synovial-like
* Synovial sarcoma
* Clear-cell sarcoma
Lipomatous
* Lipoma/liposarcoma
* Myelolipoma
* Myxoid liposarcoma
* PEComa
* Angiomyolipoma
* Chondroid lipoma
* Intradermal spindle cell lipoma
* Pleomorphic lipoma
* Lipoblastomatosis
* Spindle cell lipoma
* Hibernoma
Myomatous
general:
* Myoma/myosarcoma
smooth muscle:
* Leiomyoma/leiomyosarcoma
skeletal muscle:
* Rhabdomyoma/rhabdomyosarcoma: Embryonal rhabdomyosarcoma
* Sarcoma botryoides
* Alveolar rhabdomyosarcoma
* Leiomyoma
* Angioleiomyoma
* Angiolipoleiomyoma
* Genital leiomyoma
* Leiomyosarcoma
* Multiple cutaneous and uterine leiomyomatosis syndrome
* Multiple cutaneous leiomyoma
* Neural fibrolipoma
* Solitary cutaneous leiomyoma
* STUMP
Complex mixed and stromal
* Adenomyoma
* Pleomorphic adenoma
* Mixed Müllerian tumor
* Mesoblastic nephroma
* Wilms' tumor
* Malignant rhabdoid tumour
* Clear-cell sarcoma of the kidney
* Hepatoblastoma
* Pancreatoblastoma
* Carcinosarcoma
Mesothelial
* Mesothelioma
* Adenomatoid tumor
* v
* t
* e
Tumors of the urinary and genital systems
Kidney
Glandular and epithelial neoplasm
* Renal cell carcinoma
* Renal oncocytoma
Mixed tumor
* Wilms' tumor
* Mesoblastic nephroma
* Clear-cell sarcoma of the kidney
* Angiomyolipoma
* Cystic nephroma
* Metanephric adenoma
by location
* Renal medullary carcinoma
* Juxtaglomerular cell tumor
* Renal medullary fibroma
Ureter
* Ureteral neoplasm
Bladder
* Transitional cell carcinoma
* Squamous-cell carcinoma
* Inverted papilloma
Urethra
* Transitional cell carcinoma
* Squamous-cell carcinoma
* Adenocarcinoma
* Melanoma
Other
* Malignant fibrous histiocytoma
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Mesoblastic nephroma | c0206628 | 29,693 | wikipedia | https://en.wikipedia.org/wiki/Mesoblastic_nephroma | 2021-01-18T19:05:14 | {"mesh": ["D018201"], "umls": ["C0206628"], "wikidata": ["Q6821415"]} |
A rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by blood phenylalanine (Phe) concentrations of 120-600 micromol/L with or without clinical manifestations of impaired cognitive function, and behavioral and developmental disorders.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Mild hyperphenylalaninemia | None | 29,694 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79651 | 2021-01-23T17:45:00 | {"icd-10": ["E70.1"], "synonyms": ["Mild HPA", "Non-PKU HPA", "mHPA"]} |
A number sign (#) is used with this entry because of evidence that Seckel syndrome-4 (SCKL4) is caused by homozygous mutation in the CENPJ gene (609279) on chromosome 13q12. One such family has been reported.
Homozygous mutations in the CENPJ gene can also cause primary microcephaly-6 (MCPH6; 608393).
Description
Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features (Faivre et al., 2002).
For a general description and a discussion of genetic heterogeneity of Seckel syndrome, see 210600.
Clinical Features
Al-Dosari et al. (2010) described a consanguineous Saudi family in which several members had clinical features of Seckel syndrome. The proposita had intrauterine growth retardation (IUGR), severe failure to thrive, microcephaly, receding chin, high forehead, prominent nasal spine, hypoplastic alae nasi, and low-set ears; she did not have cognitive and motor development delay or skeletal anomalies. Her sister had IUGR, microcephaly, and the same facial features, but her skeletal survey showed 11 ribs and steep acetabular roof. The sibs had 3 cousins who had short stature, microcephaly, and the same facial features but only 1 of them had intellectual impairment.
Inheritance
Consanguinity and affected sibs in the family with Seckel syndrome reported by Al-Dosari et al. (2010) were consistent with autosomal recessive inheritance.
Mapping
By homozygosity mapping and linkage analysis in a Saudi family with Seckel syndrome, Al-Dosari et al. (2010) mapped the locus for the disorder to chromosome 13q12 (maximum lod of 3.4).
Molecular Genetics
In affected members of a Saudi family segregating Seckel syndrome, Al-Dosari et al. (2010) identified a homozygous splicing mutation in the last nucleotide of intron 11 of the CENPJ gene (IVS11-1G-C; 609279.0004). The mutation fully segregated with the phenotype in the family and was not found in 96 Saudi controls. Reverse transcription revealed that this splice junction mutation completely abolishes the consensus splice acceptor site and decreases the efficiency of the 2 adjacent acceptor sites, leading to segregation of 3 different transcripts.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature Weight \- Low weight Other \- Intrauterine growth retardation (IUGR) HEAD & NECK Head \- Microcephaly \- High forehead Ears \- Low-set ears Nose \- Prominent nasal spine \- Hypoplastic alae nasi Mouth \- Receding chin CHEST Ribs Sternum Clavicles & Scapulae \- 11 pairs of ribs SKELETAL Pelvis \- Steep acetabular roof NEUROLOGIC Central Nervous System \- Intellectual impairment (rare) MOLECULAR BASIS \- Caused by mutation in the centromeric protein J gene (CENPJ, 609279.0004 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| SECKEL SYNDROME 4 | c0265202 | 29,695 | omim | https://www.omim.org/entry/613676 | 2019-09-22T15:58:00 | {"doid": ["0070010"], "omim": ["613676"], "orphanet": ["808"]} |
Bowel-associated dermatosis–arthritis syndrome
Other namesBowel bypass syndrome and Intestinal bypass arthritis–dermatitis syndrome
Pustules and crusts around the elbows in a patient with Crohn's disease and bowel-associated dermatosis-arthritis syndrome (BADAS)
SpecialtyDermatology
Bowel-associated dermatosis–arthritis syndrome (BADAS), is a complication of jejunoileal bypass surgery consisting of flu-like symptoms (fever, malaise), multiple painful joints (polyarthralgia), muscle aches (myalgia) and skin changes. It has been reported to occur in up to 20% of patients who had jejunoileal bypass surgery, a form of obesity surgery that is rarely performed today.[1]
An excessive immune response to gut bacteria is thought to cause BADAS. Antibiotics have been used successfully to treat the condition (including tetracyclines, macrolides, metronidazole and fluoroquinolones). Corticosteroids are an alternative. Surgical repair of the normal bowel transit, where possible, can be effective.
BADAS has later been reported in patients with inflammatory bowel disease,[1] diverticulitis[2] and following resection of the stomach (gastrectomy). BADAS has also been reported following biliopancreatic diversion (a form of bariatric surgery, also known as Scopinaro procedure),[3] and in one case, BADAS occurred in a patient with acute appendicitis.[4] Since "bowel bypass syndrome" is not applicable to these cases, the term BADAS was coined by Jorizzo and co-authors in 1984.[1]
## Contents
* 1 Symptoms and signs
* 2 Mechanism
* 3 Diagnosis
* 4 See also
* 5 References
## Symptoms and signs[edit]
Crusts around the ankles and feet in the same patient as above
The most typical skin changes are a red patch (erythematous macula) with a central vesicle or pustule that heals without scarring. This maculopapular rash can recur every 4–6 weeks and predominantly affect the upper chest and arms. Erythema nodosum-like skin lesions can affect the legs. When a skin biopsy is examined under the microscope, there can be signs of a neutrophilic dermatosis. The joint pains in BADAS are typically episodic, migratory and affecting multiple joints. They can affect the small joints (e.g. interphalangeal joints of the fingers) and there can be associated tenosynovitis, but there is no erosion or deformation in the long term.
Diarrhea may also occur.[5]
## Mechanism[edit]
Immune complexes are thought to cause blood vessel damage, attracting neutrophils into the skin and synovium in BADAS.[6] These antigen-antibody complexes are thought to be caused by excessive exposure to bacterial antigens (especially peptidoglycans).[7] Bacterial overgrowth appears to be a frequent underlying condition. These antibodies possibly stimulate migration of neutrophils into the affected joints and skin. The effect of antibacterial therapy supports a role for bacteria in the disease mechanism (pathogenesis).
## Diagnosis[edit]
This section is empty. You can help by adding to it. (May 2018)
## See also[edit]
* Sweet's syndrome-like dermatosis
* List of cutaneous conditions
## References[edit]
1. ^ a b c Jorizzo JL, Apisarnthanarax P, Subrt P, et al. (March 1983). "Bowel-bypass syndrome without bowel bypass. Bowel-associated dermatosis-arthritis syndrome". Arch. Intern. Med. 143 (3): 457–61. doi:10.1001/archinte.143.3.457. PMID 6830382.
2. ^ Brouard MC, Chavaz P, Borradori L (January 2004). "Acute pustulosis of the legs in diverticulitis with sigmoid stenosis: an overlap between bowel-associated dermatosis-arthritis syndrome and pustular pyoderma gangrenosum". J Eur Acad Dermatol Venereol. 18 (1): 89–92. doi:10.1111/j.1468-3083.2004.00712.x. PMID 14678541.
3. ^ Slater GH, Kerlin P, Georghiou PR, Fielding GA (January 2004). "Bowel-associated dermatosis-arthritis syndrome after biliopancreatic diversion". Obes Surg. 14 (1): 133–5. doi:10.1381/096089204772787446. PMID 14980049.
4. ^ Prpić-Massari L, Kastelan M, Brajac I, Cabrijan L, Zamolo G, Massari D (August 2007). "Bowel-associated dermatosis-arthritis syndrome in a patient with appendicitis". Med. Sci. Monit. 13 (8): CS97–100. PMID 17660731.
5. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
6. ^ Jorizzo JL, Schmalstieg FC, Dinehart SM, et al. (April 1984). "Bowel-associated dermatosis-arthritis syndrome. Immune complex-mediated vessel damage and increased neutrophil migration". Arch. Intern. Med. 144 (4): 738–40. doi:10.1001/archinte.144.4.738. PMID 6712372.
7. ^ Ely PH (June 1980). "The bowel bypass syndrome: a response to bacterial peptidoglycans". J. Am. Acad. Dermatol. 2 (6): 473–87. doi:10.1016/S0190-9622(80)80148-4. PMID 7400404.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Bowel-associated dermatosis–arthritis syndrome | None | 29,696 | wikipedia | https://en.wikipedia.org/wiki/Bowel-associated_dermatosis%E2%80%93arthritis_syndrome | 2021-01-18T19:02:36 | {"wikidata": ["Q4950790"]} |
Trotter and Danforth (1922) estimated a frequency of 27% in women. Obviously the frequency in man is not determinable. They found a correlation of about 0.8 between mother and daughter and suggested autosomal dominant inheritance.
Hair \- Facial hypertrichosis Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| FACIAL HYPERTRICHOSIS | c1851400 | 29,697 | omim | https://www.omim.org/entry/134000 | 2019-09-22T16:41:16 | {"mesh": ["C565029"], "omim": ["134000"]} |
Metabolic myopathies are myopathies that result from defects in biochemical metabolism that primarily affect muscle. They are generally genetic defects that interfere with muscle's ability to create energy. At the cellular level, metabolic myopathies lack some kind of enzyme that prevent the chemical reactions necessary to create adenosine triphosphate (ATP). This prevents the muscle cells from being able to function properly and disrupts communication between joints and bones.[1] Some people with a metabolic myopathy never develop symptoms due to the body's ability to produce enough ATP through alternative pathways. In the event more ATP is needed from the affected pathway, the lack of it becomes an issue and symptoms develop. People with a metabolic myopathy often experience symptoms such as progressive muscle weakness, fatigue, pain and cramping after exercise, and considerable breakdown of muscle tissue.[1] The degree of symptoms varies greatly from person to person and is dependent on the severity of enzymatic defect. In extreme cases it can lead to the cause of Rhabdomyolysis.[2]
## Contents
* 1 Types
* 2 Diagnosis
* 3 Treatment
* 4 References
* 5 External links
## Types[edit]
Metabolic myopathies are generally caused by an inherited genetic mutation. This mutation has an autosomal recessive inheritance pattern making it fairly rare to inherit, but it can also be caused by a random genetic mutation. Metabolic myopathies are named after the pathway in which the defective enzyme or a lack of enzymes is present. This causes the underproduction of adenosine triphosphate (ATP) and affects the muscles in different parts of the body.[3] The three main categories of diseases are listed below.
* Glycogen storage diseases\- defect in sugar metabolism
* Lipid storage disorder\- defect in fat processing
* Mitochondrial myopathy\- defect in mitochondrial enzyme
## Diagnosis[edit]
The symptoms of a metabolic myopathy can be easily confused with the symptoms of another disease. In most cases, a Muscle biopsy is necessary for an accurate diagnosis of the cause of muscle weakness. A blood test can be done under normal circumstances to test for genetic differences and signs of tissue breakdown, or with an added cardio portion that can indicate if muscle breakdown is occurring. An electromyography is sometimes taken in order to rule out other disorders if the cause of fatigue is unknown.[3] Differentiating between different types of metabolic myopathies can be difficult due to the similar symptoms of each type such as Myoglobinuria and exercise intolerance. It has to be determined whether the patient has fixed or exercise induced manifestations, and if exercise related what kind of exercise, before extensive exercise related lab testing is done to determine the underlying cause. [4]
## Treatment[edit]
Metabolic Myopathies have varying levels of symptoms, being most severe when developed during infancy. Those who do not develop a form of a metabolic myopathy until they are in their young adult or adult life tend to have more treatable symptoms that can be helped with a change in diet and exercise.[2] Depending on what enzyme is affected, a high-protein or low-fat diet may be recommended along with mild exercise. It is important for people with metabolic myopathies to consult with their doctors for a treatment plan in order to prevent acute muscle breakdowns while exercising that lead to the release of muscle proteins into the bloodstream that can cause kidney damage.[3]
## References[edit]
1. ^ a b "Metabolic Myopathies". www.rheumatology.org. Retrieved 2019-11-19.
2. ^ a b "Metabolic Myopathies - Signs and Symptoms". Muscular Dystrophy Association. 2015-12-18. Retrieved 2019-11-19.
3. ^ a b c "Metabolic Myopathy". www.hopkinsmedicine.org. Retrieved 2019-11-19.
4. ^ Berardo, Andres; DiMauro, Salvatore; Hirano, Michio (March 2010). "A Diagnostic Algorithm for Metabolic Myopathies". Current Neurology and Neuroscience Reports. 10 (2): 118–126. doi:10.1007/s11910-010-0096-4. ISSN 1528-4042. PMC 2872126. PMID 20425236.
## External links[edit]
* Metabolic Myopathies \- eMedicine
* v
* t
* e
Diseases relating to the peripheral nervous system
Mononeuropathy
Arm
median nerve
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* Iliopsoas
* Synovial cyst
* Baker's cyst
* Calcific bursitis
Noncapsular joint
Symptoms
* Ligamentous laxity
* Hypermobility
Enthesopathy/Enthesitis/Tendinopathy
upper limb
* Adhesive capsulitis of shoulder
* Impingement syndrome
* Rotator cuff tear
* Golfer's elbow
* Tennis elbow
lower limb
* Iliotibial band syndrome
* Patellar tendinitis
* Achilles tendinitis
* Calcaneal spur
* Metatarsalgia
* Bone spur
other/general:
* Tendinitis/Tendinosis
Nonjoint
Fasciopathy
* Fasciitis: Plantar
* Nodular
* Necrotizing
* Eosinophilic
Fibromatosis/contracture
* Dupuytren's contracture
* Plantar fibromatosis
* Aggressive fibromatosis
* Knuckle pads
This article about an endocrine, nutritional, or metabolic disease is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
This article about a disease of musculoskeletal and connective tissue is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| Metabolic myopathy | c0270984 | 29,698 | wikipedia | https://en.wikipedia.org/wiki/Metabolic_myopathy | 2021-01-18T18:53:16 | {"umls": ["C0270984"], "orphanet": ["98486"], "wikidata": ["Q6822345"]} |
A number sign (#) is used with this entry because autosomal dominant cutis laxa-2 (ADCL2) is caused by heterozygous mutation in the fibulin-5 gene (FBLN5; 604580) on chromosome 14q32.
Homozygous mutation in FBLN5 can cause an autosomal recessive form of cutis laxa (ARCL1A; 219100).
Description
Cutis laxa is a connective tissue disorder characterized by loose skin and variable internal organ involvement resulting from a paucity of elastic fibers (summary by Markova et al., 2003).
For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ADCL1 (123700).
Clinical Features
Markova et al. (2003) described an African American female patient with autosomal dominant cutis laxa. Extensive folding and redundant skin on the abdomen and arms were present shortly after birth. No signs of internal organ involvement were noted. Echocardiography and electrocardiography revealed mitral valve regurgitation. The parents were unaffected. At reexamination at age 11 years the patient was noted no have slightly hyperextensible skin, which demonstrated wrinkling on the back of the hands and the wrists, and slightly accentuated excessive skin folds on the abdomen. The cutaneous manifestations were noted to have improved significantly. The patient developed scoliosis.
Molecular Genetics
In a patient with autosomal dominant cutis laxa, Markova et al. (2003) identified a 483-bp duplication in the FBLN5 gene (604580.0002). A dominant-negative effect of the mutation was 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-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
| CUTIS LAXA, AUTOSOMAL DOMINANT 2 | c0268350 | 29,699 | omim | https://www.omim.org/entry/614434 | 2019-09-22T15:55:24 | {"doid": ["0070136"], "mesh": ["C562627"], "omim": ["614434"], "orphanet": ["90348"], "genereviews": ["NBK5201"]} |
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