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## Summary
The purpose of this overview is to increase clinician awareness of the genetic basis of hypertrophic cardiomyopathy (HCM) and the benefits of early diagnosis and management to individuals with genetic HCM.
The goals of this overview are the following.
### Goal 1.
Define HCM.
### Goal 2.
Identify the categories of HCM.
### Goal 3.
Provide the evaluation strategy for a proband with HCM to establish (when possible) the specific genetic cause.
### Goal 4.
Provide a basic view of genetic risk assessment of at-risk asymptomatic relatives of a proband with HCM to inform cardiac surveillance and to allow early detection and treatment of HCM to improve long-term outcome.
## Diagnosis
## Clinical Characteristics
## Differential Diagnosis
## Management
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Hypertrophic Cardiomyopathy Overview
|
None
| 25,300 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK1768/
| 2021-01-18T21:18:26 |
{"synonyms": []}
|
Familial candidiasis is an inherited tendency to develop infections caused by a type of fungus called Candida. Affected individuals typically have infections of the skin, the nails, and the moist lining of body cavities (mucous membranes). These infections are recurrent and persistent, which means they come back repeatedly and can last a long time. This pattern of infection is called chronic mucocutaneous candidiasis.
Candida is commonly present on the skin and on the mucous membranes, and in most people usually causes no health problems. However, certain medications (such as antibiotics and corticosteroids) and other factors can lead to occasional overgrowth of Candida (candidiasis) in the mouth (where it is known as thrush) or in the vagina. These episodes, commonly called yeast infections, usually last only a short time before being cleared by a healthy immune system.
Most people with familial candidiasis have chronic or recurrent yeast infections that begin in early childhood. Skin infections lead to a rash with crusty, thickened patches; when these patches occur on the scalp, they can cause loss of hair in the affected area (scarring alopecia). Candidiasis of the nails can result in thick, cracked, and discolored nails and swelling and redness of the surrounding skin. Thrush and gastrointestinal symptoms such as bloating, constipation, or diarrhea are common in affected individuals. Women with familial candidiasis can develop frequent vaginal yeast infections, and infants can have yeast infections on the skin that cause persistent diaper rash.
Depending on the genetic change involved in this condition, some affected individuals are at risk for developing systemic candidiasis, a more severe condition in which the infection spreads through the bloodstream to various organs including the brain and the meninges, which are the membranes covering the brain and spinal cord. Systemic candidiasis can be life-threatening.
Chronic or recurrent yeast infections can occur in people without familial candidiasis. Some individuals experience recurrent candidiasis as part of a general susceptibility to infections because their immune systems are impaired by a disease such as acquired immune deficiency syndrome (AIDS) or severe combined immunodeficiency (SCID), medications, or other factors. Other individuals have syndromes such as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) or autosomal dominant hyper-IgE syndrome (AD-HIES) that include a tendency to develop candidiasis along with other signs and symptoms affecting various organs and systems of the body.
## Frequency
Candida is present on the skin and mucous membranes of up to half the population at any given time, normally without creating health problems. The prevalence of the inherited susceptibility to Candida infections that characterizes familial candidiasis is unknown, but the condition is thought to be rare.
## Causes
Mutations in any of several genes have been identified in people with familial candidiasis. These genes include CARD9, IL17RC, STAT1, and others. The genes associated with familial candidiasis provide instructions for making proteins that are involved in immune system function.
When the immune system recognizes Candida, it generates cells called Th17 cells. These cells produce signaling molecules (cytokines) called the interleukin-17 (IL-17) family as part of an immune process called the IL-17 pathway. The IL-17 pathway creates inflammation, sending other cytokines and white blood cells that fight foreign invaders and promote tissue repair. In addition, the IL-17 pathway promotes the production of certain antimicrobial protein segments (peptides) that control growth of Candida on the surface of mucous membranes.
The gene mutations associated with familial candidiasis interfere with the IL-17 pathway in various ways. Mutations in several genes, including IL17RC, impair signaling in the IL-17 pathway. Mutations in other genes, including STAT1 and CARD9, are thought to block (inhibit) the activity of the pathway. Impairment of the IL-17 pathway diminishes the body's immune response to Candida, leading to the chronic or recurrent yeast infections that occur in people with familial candidiasis. Mutations in most of the genes associated with familial candidiasis cause chronic mucocutaneous candidiasis; only CARD9 gene mutations have also been known to lead to systemic candidiasis in some affected individuals.
### Learn more about the genes associated with Familial candidiasis
* CARD9
* IL17RC
* STAT1
Additional Information from NCBI Gene:
* CLEC7A
* IL17F
* IL17RA
* RORC
* TRAF3IP2
## Inheritance Pattern
Familial candidiasis can be inherited in different patterns. People with this disorder inherit a tendency to develop recurrent or chronic Candida infections, not the infections themselves. Familial candidiasis caused by mutations in some genes, including STAT1, is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Familial candidiasis caused by mutations other genes, such as CARD9 or IL17RC, 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
|
Familial candidiasis
|
c2751429
| 25,301 |
medlineplus
|
https://medlineplus.gov/genetics/condition/familial-candidiasis/
| 2021-01-27T08:25:32 |
{"gard": ["12313"], "mesh": ["C567779"], "omim": ["114580", "212050", "607644", "613108", "613956", "615527", "616445", "614162", "616622", "613953"], "synonyms": []}
|
A number sign (#) is used with this entry because of evidence that dominantly inherited inclusion body beta-thalassemia is caused by mutation in the beta-globin gene (HBB; 141900).
Clinical Features
Weatherall et al. (1973) observed what appeared to be a hitherto unreported type of congenital anemia in 6 members of an Irish family. Inherited as an autosomal dominant, it was characterized by moderate anemia, lifelong jaundice, cholelithiasis and splenomegaly, marked morphologic changes in the red cells (which were, however, well hemoglobinized), erythroid hyperplasia of the bone marrow with increased numbers of multinucleate red cell precursors, and the presence of large inclusion bodies in the normoblasts, both in the marrow and in the peripheral blood after splenectomy. There was an imbalance in globin chain synthesis with an excess of alpha-chain over beta-chain by a factor of 2 to 1. The authors postulated either an 'overproduction abnormality' of alpha-globin chain synthesis or a defect in cell division leading to an excess of genetic material per cell. The disorder appears to fall into the general category of congenital dyserythropoietic anemia. Subsequently, this kindred and 3 similarly affected ones, all of Anglo-Saxon origin, were considered by the Weatherall group to have a dominantly inherited inclusion body beta-thalassemia.
Stamatoyannopoulos et al. (1974) described this disorder in beta-thalassemia heterozygotes of a Swiss-French family and suggested that this condition be designated inclusion body beta-thalassemia.
Thein et al. (1990) studied the molecular basis of the dominantly inherited beta-thalassemia in the 4 families reported by Weatherall et al. (1973). They suggested that the phenotypic difference between this condition and the more common recessive form of beta-thalassemia lies mainly in the length and stability of the abnormal translation products that are synthesized and particularly in whether they are capable of binding heme and producing aggregations that are relatively resistant to proteolytic degradation.
Thein et al. (1990) provided a revised pedigree of the Irish family reported by Weatherall et al. (1973) and stated that all affected members had moderate anemia with splenomegaly, increased levels of Hb A2 and Hb F, and increased alpha/beta chain synthesis ratios. Two family members had undergone splenectomy. One individual had died and at autopsy was found to have extensive extramedullary hemopoiesis with marked erythroid hyperplasia of the bone marrow. There was also extensive hemosiderosis of the pancreas, kidneys, lymph nodes, ovaries, thyroid, and bronchus. The distribution of iron in this case occurred mainly in parenchymal tissues, which is typical of overload derived from excessive iron absorption rather than from transfusion. This pattern of iron overload together with the extensive extramedullary hemopoiesis was typical of a hematologic disorder characterized by ineffective hemopoiesis.
Molecular Genetics
In affected members of the Swiss-French family reported by Stamatoyannopoulos et al. (1974), Fei et al. (1989) identified a glu121-to-ter mutation in the HBB gene (E121X; 141900.0314). The E121X mutation was also identified in a sporadic patient of Greek-Polish descent (Kazazian et al., 1986) and in the 3 British families reported by Thein et al. (1990). Thein et al. (1990) found that the Irish family reported by Weatherall et al. (1973) had a complex rearrangement in the third exon of the HBB gene (141900.0520), the site of the E121X mutation.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE
|
c0005283
| 25,302 |
omim
|
https://www.omim.org/entry/603902
| 2019-09-22T16:12:34 |
{"doid": ["12241"], "mesh": ["D017086"], "omim": ["603902"], "orphanet": ["848", "231226"], "synonyms": ["Alternative titles", "DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE"]}
|
This article is about the presence of spheroid red blood cells. For the hereditary cause of this disorder, see Hereditary spherocytosis.
Spherocytosis
Spherocytosis seen in a peripheral blood smear from a patient with hereditary spherocytosis
SpecialtyHematology
Spherocytosis is the presence in the blood of spherocytes, i.e erythrocytes (red blood cells) that are sphere-shaped rather than bi-concave disk shaped as normal. Spherocytes are found in all hemolytic anemias to some degree. Hereditary spherocytosis and autoimmune hemolytic anemia are characterized by having only spherocytes.[1]
## Contents
* 1 Causes
* 2 Pathophysiology
* 3 Diagnosis
* 4 Treatment
* 5 See also
* 6 References
* 7 External links
## Causes[edit]
Spherocytes are found in immunologically-mediated hemolytic anemias and in hereditary spherocytosis, but the former would have a positive direct Coombs test and the latter would not. The misshapen but otherwise healthy red blood cells are mistaken by the spleen for old or damaged red blood cells and it thus constantly breaks them down, causing a cycle whereby the body destroys its own blood supply (auto-hemolysis). A complete blood count (CBC) may show increased reticulocytes, a sign of increased red blood cell production, and decreased hemoglobin and hematocrit. The term "non-hereditary spherocytosis" is occasionally used, albeit rarely.[2]
Lists of causes:[3]
* Warm autoimmune hemolytic anemia
* Cold autoimmune hemolytic anemia/paroxysmal cold hemoglobinuria
* Acute and delayed hemolytic transfusion reactions
* ABO hemolytic diseases of newborn/Rh hemolytic disease of newborn
* Hereditary spherocytosis
* Intravenous water infusion or drowning (fresh water)
* Hypophosphatemia
* Bartonellosis
* Snake bites
* Hyposplenism
* Rh-null phenotype
## Pathophysiology[edit]
Spherocytosis most often refers to hereditary spherocytosis. This is caused by a molecular defect in one or more of the proteins of the red blood cell cytoskeleton, including spectrin, ankyrin, Band 3, or Protein 4.2. Because the cell skeleton has a defect, the blood cell contracts to a sphere, which is its most surface tension efficient and least flexible configuration. Though the spherocytes have a smaller surface area through which oxygen and carbon dioxide can be exchanged, they in themselves perform adequately to maintain healthy oxygen supplies. However, they have a high osmotic fragility—when placed into water, they are more likely to burst than normal red blood cells. These cells are more prone to physical degradation.[citation needed]
In short, spherocytosis has an attribute of decreased cell deformability.[4]
## Diagnosis[edit]
Spherocytosis can be diagnosed in Peripheral blood film by seeing spherical red blood cells rather than biconcave. Because spherical red blood cells are more prone to lysis in water (because they lack some proteins in their cytoskeleton) there will be increased osmotic fragility on acidified glycerol lysis test.[citation needed]
## Treatment[edit]
Treatment may vary depending on the cause of the condition. In the case of hereditary spherocytosis, although research is ongoing, at this point there is no cure for the genetic defect that causes hereditary spherocytosis.[5] Current management focuses on interventions that limit the severity of the disease. Treatment options for this type of spherocytosis include:
* Splenectomy: As in non-hereditary spherocytosis, acute symptoms of anemia and hyperbilirubinemia indicate treatment with blood transfusions or exchanges and chronic symptoms of anemia and an enlarged spleen indicate dietary supplementation of folic acid and splenectomy,[6] the surgical removal of the spleen. Splenectomy is indicated for moderate to severe cases, but not mild cases.[7] To decrease the risk of sepsis, post-splenectomy spherocytosis patients require immunization against the influenza virus, encapsulated bacteria such as Streptococcus pneumoniae and meningococcus, and prophylactic antibiotic treatment. However, the use of prophylactic antibiotics, such as penicillin, remains controversial.[5]
* Partial splenectomy: Since the spleen is important for protecting against encapsulated organisms, sepsis caused by encapsulated organisms is a possible complication of splenectomy.[7] The option of partial splenectomy may be considered in the interest of preserving immune function. Research on outcomes is currently limited,[7] but favorable.[8]
* Surgical removal of the gallbladder may be necessary.[5]
## See also[edit]
* Anemia
* Blood
* Blood diseases
* Red blood cells
* Hereditary diseases
## References[edit]
1. ^ Robert S. Hillman; Kenneth A. Ault; Henry M. Rinder (2005). Hematology in clinical practice: a guide to diagnosis and management. McGraw-Hill Professional. pp. 146–. ISBN 978-0-07-144035-6. Retrieved 15 November 2010.
2. ^ Thoma J, Kutter D, Casel S, et al. (2005). "HbSC hemoglobinopathy suspected by chest x-ray and red blood cell morphology". Acta Clin Belg. 60 (6): 377–82. doi:10.1179/acb.2005.057. PMID 16502600. S2CID 43340793.
3. ^ Hirschmann, editors, Douglas C. Tkachuk, Jan V. (2007). Wintrobe's atlas of clinical hematology. Philadelphia, PA [etc.]: Lippincott Williams & Wilkins. ISBN 978-0781770231.CS1 maint: extra text: authors list (link)
4. ^ Mohandas, Narla; Gallagher, Patrick G. (2008-11-15). "Red cell membrane: past, present, and future". Blood. 112 (10): 3939–3948. doi:10.1182/blood-2008-07-161166. ISSN 0006-4971. PMC 2582001. PMID 18988878.
5. ^ a b c Anthony S. Fauci; Eugene Braunwald; Dennis L. Kasper; Stephen L. Hauser; Dan L. Longo; J. Larry Jameson; Joseph Loscalzo (2008). Harrison's principles of internal medicine (17th ed.). New York: McGraw-Hill Medical. pp. Chapter 106. ISBN 978-0071466332.
6. ^ Bolton-Maggs PH, Stevens RF, Dodd NJ, Lamont G, Tittensor P, King MJ (August 2004). "Guidelines for the diagnosis and management of hereditary spherocytosis". Br. J. Haematol. 126 (4): 455–74. doi:10.1111/j.1365-2141.2004.05052.x. PMID 15287938.
7. ^ a b c Bolton-Maggs, P. H. B.; Stevens, R. F.; Dodd, N. J.; Lamont, G.; Tittensor, P.; King, M. -J.; General Haematology Task Force of the British Committee for Standards in Haematology (2004). "Guidelines for the diagnosis and management of hereditary spherocytosis". British Journal of Haematology. 126 (4): 455–474. doi:10.1111/j.1365-2141.2004.05052.x. PMID 15287938.
8. ^ Buesing, K. L.; Tracy, E. T.; Kiernan, C.; Pastor, A. C.; Cassidy, L. D.; Scott, J. P.; Ware, R. E.; Davidoff, A. M.; Rescorla, F. J.; Langer, J. C.; Rice, H. E.; Oldham, K. T. (2011). "Partial splenectomy for hereditary spherocytosis: A multi-institutional review". Journal of Pediatric Surgery. 46 (1): 178–183. doi:10.1016/j.jpedsurg.2010.09.090. PMID 21238662.
## External links[edit]
* A picture of spherocytes from Medline
* Hereditary Spherocytosis from Medscape
* v
* t
* e
Blood film findings
Red blood cells
Size
* Anisocytosis
* Macrocytosis
* Microcytosis
Shape
* Poikilocytosis
* Membrane abnormalities
* Acanthocyte
* Codocyte
* Elliptocyte
* Hereditary elliptocytosis
* Spherocyte
* Hereditary spherocytosis
* Dacrocyte
* Echinocyte
* Schistocyte
* Degmacyte
* Sickle cell/drepanocyte
* Sickle cell disease
* Stomatocyte
* Hereditary stomatocytosis
Colour
* Anisochromia
* Hypochromic anemia
* Polychromasia
Inclusion bodies
* Developmental
* Howell–Jolly body
* Basophilic stippling
* Pappenheimer bodies
* Cabot rings
* Hemoglobin precipitation
* Heinz body
Other
* Red cell agglutination
* Rouleaux
White blood cells
Lymphocytes
* Reactive lymphocyte
* Smudge cell
* Russell bodies
Granulocytes
* Hypersegmented neutrophil
* Arneth count
* Pelger–Huët anomaly
* Döhle bodies
* Toxic granulation
* Toxic vacuolation
* Critical green inclusion
* Alder–Reilly anomaly
* Jordans' anomaly
* Birbeck granules
* Left shift
Other
* Auer rod
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Spherocytosis
|
c0553720
| 25,303 |
wikipedia
|
https://en.wikipedia.org/wiki/Spherocytosis
| 2021-01-18T19:09:53 |
{"wikidata": ["Q11181178"]}
|
BioPortal|website=Bioportal.bioontology.org|accessdate=9 July 2018}}</ref> refers to the state in the stomach where gastric acid levels are higher than the reference range. The combining forms of the name (chlor- \+ hydr-), referring to chlorine and hydrogen, are the same as those in the name of hydrochloric acid, which is the active constituent of gastric acid.
In humans, the normal pH is around 1 to 3, which varies throughout the day. The highest basal secretion levels are in the late evening (around 12 A.M. to 3 A.M.). Hyperchlorhydria is usually defined as having a pH less than 2. It has no negative consequences unless other conditions are also present such as gastroesophageal reflux disease (GERD).
## Causes[edit]
increased Gastrin production[citation needed]
## See also[edit]
* Achlorhydria
* Hypochlorhydria
## References[edit]
This article about a disease, disorder, or medical condition is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Hyperchlorhydria
|
c0151713
| 25,304 |
wikipedia
|
https://en.wikipedia.org/wiki/Hyperchlorhydria
| 2021-01-18T18:42:27 |
{"umls": ["C0151713"], "icd-10": ["K31.8"], "wikidata": ["Q3144117"]}
|
Rare disease
GFER syndrome
GFER syndrome is inherited via autosomal recessive manner
SymptomsCongenital cataracts, loss of motor abilities, development delay, degeneration of organs, sometimes hearing loss
CausesCaused by a mutation in the nuclear GFER gene
GFER Syndrome (also called GFER disease) is a rare mitochondrial disease. GFER was first reported in 2009[1] and since Exome sequencing became more available, few more cases were discovered.[2] In all known cases, the disease progresses with conditions that include: congenital cataracts, loss of motor abilities, development delay, degeneration of organs, sometimes hearing loss, etc.
## Contents
* 1 Cause
* 2 Mechanism
* 3 Treatment
* 4 References
## Cause[edit]
The disease is inherited in an autosomal recessive pattern and is caused by a mutation in the nuclear GFER gene (also called ALR; Erv1 homolog in yeast).
## Mechanism[edit]
The most major role of GFER is inside the mitochondria's IMS (it is imported into the mitochondria from the cytosol).
If we describe the normal pathway as follows:
1. Cysteine rich subtracts (CX3C, CX9C) which are in the cytosol enter into inter-membrane space via the TOM.
2. These subtracts are processed by Mia40 protein which folds them. In each fold an SS bond is formed and an electron is taken (through the H atom) into the Mia40. Only in the folded form these folded proteins can further enter to the mitochondria's matrix.
3. GFER takes the electron from Mia40 and transfer it to cytochrome c.
Otherwise, when the GFER does not take the electron:
1. ETC efficiency will decrease.
2. Mia40 will be "saturated" and will not be able to fold the subtracts. These unfolded proteins will not be able to enter the matrix and therefore:
1. The mitochondria will lack various building blocks and its ability to maintain itself will be hindered (e.g., It will not be able to produce cytochrome c oxidase and other building blocks for the ETC, maintenance, correction of errors and splitting).
2. The IMS will become bloated with partially folded proteins with structural damage. This damage may cause cytochrome c depletion and lead to apoptosis.
3. Mia40 and the partially folded protein may free their electrons, eventually, as free radical which hinders the mitochondria, including its DNA, until it cannot repair itself.
3. Mitochondrial unfolded protein response will be initiated.
GFER has a few more roles which may be affected, with dependence on the mutation type and location. These include:
* Mitochondrial fission regulation by inhibition of Drp1[3]
* GFER, acts as an augmentor of liver regeneration.
* GFER interacts with various protein as a regulator of cell apoptosis process.
## Treatment[edit]
Currently there is no curative treatment.
## References[edit]
1. ^ Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, et al. (May 2009). "The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency". American Journal of Human Genetics. 84 (5): 594–604. doi:10.1016/j.ajhg.2009.04.004. PMC 2681006. PMID 19409522.
2. ^ Nambot S, Gavrilov D, Thevenon J, Bruel AL, Bainbridge M, Rio M, et al. (August 2017). "Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data". Clinical Genetics. 92 (2): 188–198. doi:10.1111/cge.12985. PMID 28155230.
3. ^ Todd LR, Damin MN, Gomathinayagam R, Horn SR, Means AR, Sankar U (April 2010). "Growth factor erv1-like modulates Drp1 to preserve mitochondrial dynamics and function in mouse embryonic stem cells". Molecular Biology of the Cell. 21 (7): 1225–36. doi:10.1091/mbc.E09-11-0937. PMC 2847526. PMID 20147447.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
GFER Syndrome
|
None
| 25,305 |
wikipedia
|
https://en.wikipedia.org/wiki/GFER_Syndrome
| 2021-01-18T19:02:11 |
{"wikidata": ["Q55612180"]}
|
In 3 of 4 children of a nonconsanguineous marriage, Miller et al. (1975) described a disorder characterized by intermittent polyuria and hyperphosphatemia occurring either separately or together. The 3 children also had seizures. Clinical features of the hyperphosphatemia were irritability, refusal of solid food, vomiting and diarrhea, high-pitched cry, carpopedal spasm, and finally overt tetany and a spiking fever. The phosphorus was measured as high as 19.2 mg per dl.
GU \- Intermittent polyuria Neuro \- Seizures \- Irritability \- Carpopedal spasm \- Tetany Inheritance \- Autosomal recessive Misc \- Spiking fever Lab \- Hyperphosphatemia Voice \- High-pitched cry GI \- Refusal of solid food \- Vomiting \- Diarrhea ▲ 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
|
HYPERPHOSPHATEMIA, POLYURIA, AND SEIZURES
|
c1855922
| 25,306 |
omim
|
https://www.omim.org/entry/239350
| 2019-09-22T16:26:45 |
{"mesh": ["C565494"], "omim": ["239350"]}
|
A number sign (#) is used with this entry because of evidence that platelet-type bleeding disorder-17 (BDPLT17) is caused by heterozygous mutation in the GFI1B gene (604383) on chromosome 9q34.
Description
Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014).
Clinical Features
Quick and Hussey (1962) reported hereditary thrombasthenia-thrombocytopenia, which they differentiated from von Willebrand disease (see, e.g., 193400) by a negative tourniquet test and poor prothrombin consumption. Onset was in infancy with a hemophilia-like picture and prolonged bleeding time. Platelets were normal in number, and the disorder was not influenced by splenectomy.
Seip (1964) observed autosomal dominant transmission of hypoplastic thrombocytopenia in 2 families. Marrow preparations showed normal or increased megakaryocytes with little or no sign of active thrombopoiesis. No response to adrenal steroids or splenectomy was noted. Seip and Kjaerheim (1965) studied a mother and her only son. Symptoms and signs were present from birth. Bleeding time exceeded 30 minutes, and platelet counts varied from 60,000 to 120,000. Electron microscopy showed vacuoles in the platelets and some had abnormal granules.
Kurstjens et al. (1968) reported a large family in which 8 individuals in 3 generations had a bleeding disorder associated with thrombocytopenia and platelet dysfunction. Features included spontaneous epistaxis, gastrointestinal bleeding, bleeding after tooth extraction, frequent bruises, and hematomas. Females had menorrhagia and postpartum hemorrhaging. Splenectomy performed in 2 patients did not improve the thrombocytopenia. Light microscopy showed that a number of the platelets were unusually large, and electron microscopy showed small or absent alpha-granules within platelets. Patient platelets had decreased release of platelet factor-3. Platelet survival was normal. Bone marrow biopsy showed slightly increased number of abnormal megakaryocytes with irregular nuclei; signs of platelet production were virtually absent. Erythropoiesis and granulopoiesis were normal. Kurstjens et al. (1968) noted the phenotypic similarities to the disorder described by Quick and Hussey (1962). Monteferrario et al. (2014) restudied the family reported by Kurstjens et al. (1968). Patient blood smears showed a ghostlike, gray appearance of enlarged platelets, and electron microscopy showed a marked reduction in the number of alpha-granules within platelets. Platelets showed reduced platelet factor-4 (PF4; 173460) and decreased beta-thromboglobulin (see 121010). Bone marrow biopsy from 1 patient showed myelofibrosis, increased numbers of megakaryocytes that were pleomorphic in size and shape, and emperipolesis. Megakaryocytes had dysplastic features, including hypolobulation of the nucleus and multiple separated nuclei. The megakaryocytes were clustered along bone marrow sinuses and had stretched features.
Ardlie et al. (1976) reported a large family in which 10 individuals spanning 3 generations had a bleeding disorder due to congenital thrombocytopenic thrombopathy. The disorder was characterized by thrombocytopenia, morphologically abnormal platelets, prolonged bleeding time, platelet coagulant activity deficiency, and abnormal platelet aggregation. The patients' platelets adhered to collagen, but aggregation was reversible, and there was decreased release of platelet constituents. The deficiency of platelet coagulant activity caused a delay and decrease in the conversion of prothrombin to thrombin, which may have caused an unstable hemostatic plug. Stevenson et al. (2013) reported follow-up of the then 4-generation Caucasian family reported by Ardlie et al. (1976). Affected individuals had a bleeding disorder manifest as excessive bruising from childhood, epistaxis, and prolonged bleeding from cuts and superficial injuries. Bleeding also occurred after dental extraction and minor surgeries and trauma. All affected individuals had moderate thrombocytopenia, and peripheral blood smear showed large platelets and anisopoikilocytosis of red cells. Flow cytometry showed normal levels of platelet surface glycoproteins; however, SELP (173610) was significantly reduced after ADP activation compared to controls.
Ferreira et al. (2017) reported 2 patients with combined alpha-delta storage pool deficiency. The first patient was a 13-year-old boy who presented at birth with scalp petechiae, severe thrombocytopenia, and transient anemia with anisocytosis. He had numerous episodes of epistaxis and required platelet transfusions. Platelet size was normal. There were decreased alpha-granules and dense bodies. Bone marrow showed dysplastic megakaryocytes. The patient also had subglandular hypospadias requiring surgical repair and unilateral periventricular heterotopia. The second patient was an 8-year-old boy born to reportedly nonconsanguineous Mexican parents who presented with spontaneous petechiae at 3 months of age and was found to have thrombocytopenia. Bone marrow biopsy at 10 months showed megakaryocytes suggestive of idiopathic thrombocytopenic purpura, but he did not respond to intravenous immunoglobulins. He had spontaneous bruising, petechiae, and epistaxis and required platelet transfusions for surgery or prolonged bleeding. He had significantly decreased alpha-granules and virtually absent dense granules. He also presented with persistent patent ductus arteriosus.
Mapping
By linkage analysis in the family with thrombopathic thrombocytopenia reported by Kurstjens et al. (1968), Monteferrario et al. (2014) found linkage to a region on chromosome 9q34 (maximum lod score of 3.9). By linkage analysis of the family with thrombopathic thrombocytopenia reported by Ardlie et al. (1976), Stevenson et al. (2013) found linkage to a region on chromosome 9q34 (maximum lod score of 4.51).
Molecular Genetics
In affected members of a family with platelet-type bleeding disorder-17, originally reported by Kurstjens et al. (1968), Monteferrario et al. (2014) identified a heterozygous truncating mutation in the GFI1B gene (Q287X; 604383.0001). The mutation was found by linkage analysis followed by candidate gene sequencing. The surface expression of several platelet markers, including alpha-2-beta integrin (ITGA2B; 607759), was normal, but 5 of 6 affected individuals had a marked decrease in the expression of platelet glycoprotein Ib-alpha (CD42B, GP1BA; 606672). Patient platelets also showed increased expression of CD34 (142230). In vitro functional expression studies showed that the mutant protein lacked transcriptional repression activity and acted in a dominant-negative manner when coexpressed with the wildtype protein. Expression of the mutation in mouse bone marrow cells resulted in dysplastic megakaryocytes with hypolobulated nuclei, irregular contours, and multiple separated nuclei, similar to the features observed in patient cells. The findings indicated that GFI1B has an important role in megakaryopoiesis and normal platelet production.
In affected members of a large family with BDPLT17 originally reported by Ardlie et al. (1976), Stevenson et al. (2013) identified a heterozygous truncating mutation in the GFI1B gene (604383.0002). In vitro cellular functional expression assays showed that the mutant protein was unable to repress the transcription of the target gene TGFBR3 (600742) and of itself, even when expressed with wildtype GFI1B. Patient platelets had decreased levels of the alpha-granule-related protein P-selectin (SELP), with smaller reductions in ITGB3 (173470) and GP1BA, compared to controls. These findings were associated with decreased alpha-granules observed by electron microscopy in patient platelets.
Ferreira et al. (2017) reported 2 unrelated patients with combined alpha-delta storage pool deficiency. The first, a 13-year-old boy, had a de novo heterozygous nonsense mutation in the GFI1B gene (604383.0003). The second, an 8-year-old boy, was homozygous for a missense mutation in the GFI1B gene (604383.0004).
Inheritance
The transmission pattern of thrombopathic thrombocytopenia in the families reported by Kurstjens et al. (1968) and Ardlie et al. (1976) was consistent with autosomal dominant inheritance.
INHERITANCE \- Autosomal dominant \- Autosomal recessive (in 1 patient) HEAD & NECK Nose \- Epistaxis ABDOMEN Gastrointestinal \- Gastrointestinal bleeding SKIN, NAILS, & HAIR Skin \- Ecchymoses \- Petechiae HEMATOLOGY \- Increased bleeding tendency, moderate to severe \- Thrombocytopenia \- Enlarged platelets \- Gray platelets \- Platelets have decreased or absent alpha-granules \- Platelets have decreased dense bodies \- Variable reductions in platelet aggregation \- Bone marrow shows increased numbers of abnormal megakaryocytes \- Megakaryocytes have dysplastic features \- Megakaryocytes with hypolobulated nuclei or separated nuclei \- Megakaryocytes are abnormally stretched along bone marrow sinuses \- Myelofibrosis \- Emperipolesis \- Decreased platelet factor 4 \- Decreased beta-thromboglobulin \- Platelets have decreased expression of glycoprotein Ib-alpha (CD42B) \- Platelets have increased expression of CD34 \- Red cell anisopoikilocytosis (in some patients) MISCELLANEOUS \- Onset in childhood \- Variable severity \- Increased bleeding after surgery MOLECULAR BASIS \- Caused by mutation in the growth factor-independent 1B gene (GFI1B, 604383.0001 ) ▲ 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
|
BLEEDING DISORDER, PLATELET-TYPE, 17
|
c0272302
| 25,307 |
omim
|
https://www.omim.org/entry/187900
| 2019-09-22T16:32:42 |
{"doid": ["0111049"], "mesh": ["D055652"], "omim": ["187900"], "orphanet": ["721"], "synonyms": ["Alternative titles", "THROMBASTHENIA-THROMBOCYTOPENIA, HEREDITARY"]}
|
Congenital fibrosis of extraocular muscles (CFEOM) refers to a group of rare conditions that affect the normal development and function of the muscles that control eye movement and position. In general, people affected by these conditions are unable to move their eyes in certain directions and often have strabismus and/or droopy eyelids (ptosis); however, the severity of the condition and the associated signs and symptoms vary significantly by subtype. CFEOM can be caused by changes (mutations) in several genes, including KIF21A, TUBB3, PHOX2A, and TUBB2B. In some cases, the underlying genetic cause is unknown. CFEOM can be inherited in an autosomal dominant or autosomal recessive manner, depending on the subtype. Treatment is based on the signs and symptoms present in each person.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Congenital fibrosis of extraocular muscles
|
c1302995
| 25,308 |
gard
|
https://rarediseases.info.nih.gov/diseases/12590/congenital-fibrosis-of-extraocular-muscles
| 2021-01-18T18:01:09 |
{"mesh": ["C580012"], "orphanet": ["45358"], "synonyms": ["FEOM"]}
|
Congenital disorder
XK aprosencephaly
Other namesGarcia-Lurie syndrome,Aprosencephaly-atelencephaly syndrome
XK aprosencephaly (also called Garcia-Lurie syndrome, aprosencephaly, and aprosencephaly-atelencephaly syndrome) is an extremely rare congenital disorder characterized by the absence of the embryonic forebrain. Because the prosencephalon gives way to the cerebral cortex, survival with aprosencephaly is not possible outside utero. The external symptoms are similar to holoprosencephaly, a related disorder, including a smaller than normal head (microcephaly), small eyeballs (microphthalmia), a small mouth (microstomia), anal atresia (no anus), and abnormalities of the external genitalia, radius, nostrils, and pharynx (throat).[1]
## Contents
* 1 Presentation
* 2 Causes
* 3 Diagnosis
* 4 History
* 5 Terminology
* 6 References
## Presentation[edit]
There are many different symptoms that may indicate the presence of aprosencephaly. Patients typically have a smaller than normal skull, eyes, and mouth, termed microcephaly, microphthalmia, and microstomia. The eyes themselves may be closely separated (hypotelorism) or fused (cyclopia).[1][2]
Infants affected by aprosencephaly often have a variety of abnormalities in the bones of the forearm, hand, and foot (called pre-axial limb defects), including small or absent thumbs, small or absent big toe, small hands, and various malformations of the radius (the main bone in the forearm).[1][2][3]
Other associated symptoms include anal atresia, in which an infant is born without an anus, atrial septal defect (a hole between the top two chambers of the heart), ventricular septal defect (a hole between the bottom two chambers of the heart), and ambiguous genitalia.[1][2]
During pregnancy, too much amniotic fluid may be present, a condition called polyhydramnios.[1]
## Causes[edit]
No single cause is responsible for aprosencephaly. In 2005, it was found that autosomal recessive mutations of the SIX3 gene located on the short arm of chromosome 2 could result in aprosencephaly. Some cases were linked to trisomy 13, a disorder which also has a correlation with holoprosencephaly. [3][4]
## Diagnosis[edit]
The diagnosis of aprosencephaly is made clinically with the use of skeletal imaging, brain imaging, and autopsy.[3] Almost all fetuses with aprosencephaly naturally miscarry before the third trimester.[citation needed]
## History[edit]
A case of XK aprosencephaly was first reported in 1977, and was proposed as a genetic syndrome in 1988.[5][6] As of 2015, less than 10 cases of aprosencephaly are reported in the medical literature.[citation needed]
## Terminology[edit]
Aprosencephaly is named so by combining the Greek prefix a- (without, lacking) and -prosencephalon (the embryonic forebrain). The syndromic form is known as XK aprosencephaly, with 'X' and 'K' referring to the surnames of the first two patients described with aprosencephaly.[7]
## References[edit]
1. ^ a b c d e "XK aprosencephaly | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2019-01-23.
2. ^ a b c 1960–, Reardon, William (2008). The bedside dysmorphologist : classic clinical signs in human malformation syndromes and their diagnostic significance. Oxford: Oxford University Press. ISBN 9780199719822. OCLC 170654394.CS1 maint: numeric names: authors list (link)
3. ^ a b c "Orphanet: XK aprosencephaly syndrome". www.orpha.net. Retrieved 2019-01-23.
4. ^ Pasquier, L (2005). "First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations". Journal of Medical Genetics. 42 (1): e4. doi:10.1136/jmg.2004.023416. PMC 1735902. PMID 15635066.
5. ^ Garcia, C. A.; Duncan, C. (April 1977). "Atelencephalic microcephaly". Developmental Medicine and Child Neurology. 19 (2): 227–232. doi:10.1111/j.1469-8749.1977.tb07973.x. ISSN 0012-1622. PMID 870360.
6. ^ Townes, P. L.; Reuter, K.; Rosquete, E. E.; Magee, B. D. (March 1988). "XK aprosencephaly and anencephaly in sibs". American Journal of Medical Genetics. 29 (3): 523–528. doi:10.1002/ajmg.1320290308. ISSN 0148-7299. PMID 3287923.
7. ^ "OMIM Entry – 207770 – APROSENCEPHALY SYNDROME". Online Mendelian Inheritance in Man. Retrieved 2019-06-05.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
XK aprosencephaly
|
c0795952
| 25,309 |
wikipedia
|
https://en.wikipedia.org/wiki/XK_aprosencephaly
| 2021-01-18T18:37:55 |
{"gard": ["424"], "mesh": ["C536767"], "umls": ["C0795952", "C0431348"], "orphanet": ["3469"], "wikidata": ["Q42326498"]}
|
Levic et al. (1975) described this combination in a mother, 3 daughters and 2 sons of a Yugoslav family.
Neuro \- Mental retardation Eyes \- Progressive ophthalmoplegia Mouth \- Scrotal tongue 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
|
OPHTHALMOPLEGIA, PROGRESSIVE, WITH SCROTAL TONGUE AND MENTAL DEFICIENCY
|
c1833835
| 25,310 |
omim
|
https://www.omim.org/entry/165150
| 2019-09-22T16:37:07 |
{"mesh": ["C563498"], "omim": ["165150"], "orphanet": ["2743"]}
|
Postpartum chills is a physiological response that occurs within two hours of childbirth. It appears as uncontrollable shivering. It is seen in many women after delivery and can be unpleasant. It lasts for a short time. It is thought to be a result of a nervous system response. It may also be related to fluid shifts and the actual strenuous work of labor. It is considered a normal response and there is no accompanying fever. A fever would indicate an infection. Reassurance is all that is needed and for the mother to be kept warm. It has been described as a fairly common and normal occurrence.[1][2] It is thought to be possibly related to the environmental temperature.[3]
## References[edit]
1. ^ Ravid, Dorit; Gidoni, Yariv; Bruchim, Ilan; Shapira, Hava; Fejgin, Moshe (2001). "Postpartum chills phenomenon: Is it a feto-maternal transfusion reaction?". Acta Obstetricia et Gynecologica Scandinavica. 80 (2): 149–151. doi:10.1034/j.1600-0412.2001.080002149.x. ISSN 0001-6349.
2. ^ http://www.webmd.com/baby/tc/labor-delivery-and-postpartum-period-after-childbirth
3. ^ Harper, RG; Quintin, A; Kreynin, I; Brooks, GZ; Farahani, G; Lesser, M (November 1991). "Observations on the postpartum shivering phenomenon". The Journal of reproductive medicine. 36 (11): 803–7. PMID 1765959.
## Bibliography[edit]
* Henry, Norma (2016). RN maternal newborn nursing : review module. Stilwell, KS: Assessment Technologies Institute. ISBN 9781565335691.
* v
* t
* e
Pregnancy and childbirth
Planning
* Birth control
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Prenatal
Anatomy
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* Concomitant conditions
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* Sexual activity during pregnancy
Procedures
* Amniocentesis
* Cardiotocography
* Chorionic villus sampling
* Nonstress test
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Childbirth
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* Bradley method
* Hypnobirthing
* Lamaze
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* Doula
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* Midwife
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* Perinatal nurse
* Traditional birth attendant
Delivery
* Bloody show
* Childbirth positions
* Home birth
* Multiple birth
* Natural childbirth
* Pelvimetry / Bishop score
* Cervical dilation
* Cervical effacement
* Position
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Postpartum
Maternal
* Postpartum confinement
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* Doula
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* Monthly nurse
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Infant
* Adaptation to extrauterine life
* Child care
* Congenital disorders
Obstetric history
* Gravidity and parity
This article about a disorder arising in the perinatal period 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
|
Postpartum chills
|
None
| 25,311 |
wikipedia
|
https://en.wikipedia.org/wiki/Postpartum_chills
| 2021-01-18T18:41:21 |
{"wikidata": ["Q34861364"]}
|
Minor depressive disorder, also known as minor depression, is a mood disorder that does not meet the full criteria for major depressive disorder but at least two depressive symptoms are present for a long time. These symptoms can be seen in many different psychiatric and mental disorders, which can lead to more specific diagnoses of an individual's condition. However, some of the situations might not fall under specific categories listed in the Diagnostic and Statistical Manual of Mental Disorders. Minor depressive disorder is an example of one of these nonspecific diagnoses, as it is a disorder classified in the DSM-IV-TR under the category Depressive Disorder Not Otherwise Specified (DD-NOS).[1] The classification of NOS depressive disorders is up for debate. Minor depressive disorder as a term was never an officially accepted term, but was listed in Appendix B of the DSM-IV-TR. This is the only version of the DSM that contains the term, as the prior versions and the most recent edition, DSM-5, does not mention it.[2][3]
A person is considered to have minor depressive disorder if they experience 2 to 4 depressive symptoms, with one of them being either depressed mood or loss of interest or pleasure, during a 2-week period. The person must not have experienced the symptoms for 2 years and there must not have been one specific event that caused the symptoms to arise. Although not all cases of minor depressive disorder are deemed in need of treatment, some cases are treated similarly to major depressive disorder. This treatment includes cognitive behavioral therapy (CBT), anti-depressant medication, and combination therapy. A lot of research supports the notion that minor depressive disorder is an early stage of major depressive disorder, or that it is simply highly predictive of subsequent major depressive disorder.[2]
## Contents
* 1 Signs and symptoms
* 2 Treatment
* 3 History
* 4 References
## Signs and symptoms[edit]
Minor depressive disorder is very similar to major depressive disorder in the symptoms present. Generally, a person's mood is affected by thoughts and feelings of being sad or down on themself or by a loss of interest in nearly all activities. People can experience ups and downs in their life everyday where an event, action, stress or many other factors can affect their feelings on that day. However, depression occurs when those feelings of sadness persist for longer than a few weeks.[4]
A person is considered to have minor depressive disorder if they experience 2 to 4 depressive symptoms during a 2-week period. The Diagnostic and Statistical Manual of Mental Disorders lists the major depressive symptoms. Depressed mood most of the day and/or loss of interest or pleasure in normal activities must be experienced by the individual to be considered to have minor depressive disorder. Without either of these two symptoms, the disorder is not classified as minor depressive disorder. Other depressive symptoms include significant weight loss or weight gain without trying to diet (an increase/decrease in appetite can provide clues as well), insomnia or hypersomnia, psychomotor agitation or psychomotor retardation, fatigue or loss of energy, and feelings of worthlessness or excessive guilt.
All of these signs can compound on each other to create the last major symptom group of minor depressive disorder: thoughts of death, suicidal thoughts, plans to commit suicide, or a suicide attempt.[5]
Minor depressive disorder differs from major depressive disorder in the number of symptoms present with 5 or more symptoms necessary for a diagnosis of major depressive disorder. Both disorders require either depressed mood or loss of interest or pleasure in normal activities to be one of the symptoms and the symptoms need to be present for two weeks or longer. Symptoms also must be present for the majority of the length of a day and present for a majority of the days in the two-week period. Diagnosis can only occur if the symptoms cause "clinically significant distress or impairment".[1] Dysthymia consists of the same depressive symptoms, but its main differentiable feature is its longer-lasting nature as compared to minor depressive disorder. Dysthymia was replaced in the DSM-5 by persistent depressive disorder, which combined dysthymia with chronic major depressive disorder.[3]
## Treatment[edit]
Treatment of minor depressive disorder has not been studied as extensively as major depressive disorder. Although there are often similarities in the treatments used, there are also differences in what may work better for the treatment of minor depressive disorder. Some third-party payers do not pay to cover treatment for minor depressive disorder.[2]
The leading treatment techniques for minor depressive disorder are the use of antidepressants and therapy. Typically, patients with minor depression were treated by watchful waiting, prescribed antidepressants, and given brief supportive counseling, but Problem-Solving Treatment for Primary Care (PST-PC) is a Cognitive-Behavioral Therapy that has gained popularity. In one study, PST-PC and Paroxetine, an antidepressant, were shown to be equally effective in significantly reducing symptoms.[6] In another study, PST-PC was compared with the more typical care of the time and shown to reduce symptoms more quickly.[7] Although the use of antidepressants has been widely used, not all agree that it is an appropriate treatment for some minor depression disorder settings.[8]
Another alternative that has been researched is the use of St. John's wort (Hypericum perforatum). This herbal treatment has been studied by various groups with various results.[9] Some studies show evidence of the treatment being helpful to treat minor depression, but others show that it does no better than the placebo.[10][11]
## History[edit]
At its core, minor depressive disorder is the same illness as major depressive disorder with its symptoms being less pronounced. This ties its history closely to that of major depressive disorder. Depression in the past has largely been shrouded in mystery, as its causes and appropriate treatment were largely unknown. By the 1950s, it was clear that depression could be both a mental and largely physical disease, thus being able to be treated through both psychotherapy and medication. When the DSM-IV-TR was created and major depressive disorder was spelled out more clearly, there still seemed to be an uncategorized range of depression. People in this category did not have a complete set of symptoms in order to be diagnosed with major depression, but still were undoubtedly depressed. The DSM-IV-TR solution to this uncatergorized range of depression was to create Depressive Disorder Not Otherwise Specified (NOS). This group of not specified disorders included minor depressive disorder. In the recent switch to the current DSM-5, minor depressive disorder was dropped from the list of depression disorders.
With the disappearance of minor depressive disorder from the DSM-5, there has been confusion between dysthymic disorder, persistent depressive disorder, and minor depressive disorder. Dysthymic disorder was a subsection in the DSM-IV-TR under mood disorders. In the DSM-5, dysthymia is relabeled as "Persistent Depressive Disorder (Dysthymia)". There are differences between persistent depressive disorder and minor depressive disorder including: length of symptom presence, the number of symptoms present, and recurrent periods.[3] The diagnosis of minor depressive disorder has historically been harder to outline, which could have perhaps lead to the disappearance of the disorder. The DSM-IV-TR includes a statement detailing the difficulty of diagnosis, "symptoms meeting research criteria for minor depressive disorder can be difficult to distinguish from periods of sadness that are an inherent part of everyday life".[1]
## References[edit]
1. ^ a b c Diagnostic and Statistical Manual of Mental Disorders (PDF) (4th ed.). American Psychological Association. 1994. pp. 320–350. Archived from the original (PDF) on 16 December 2018. Retrieved 17 April 2016.
2. ^ a b c Fils, J. M.; Penick, E. C.; Nickel, E. J.; Othmer, E.; DeSouza, C.; Gabrielli, W. F.; Hunter, E. E. (2010). "Minor Versus Major Depression: A Comparative Clinical Study". The Primary Care Companion to the Journal of Clinical Psychiatry. 12 (1): PCC.08m00752. doi:10.4088/PCC.08m00752blu. PMC 2882809. PMID 20582293.
3. ^ a b c Diagnostic and Statistical Manual of Mental Disorders (PDF) (5th ed.). American Psychological Association. 2013. pp. 168–171. Retrieved 17 April 2016.
4. ^ "Depression" (PDF). National Institute of Mental Health. Archived from the original on July 27, 2011. Retrieved 18 April 2016.CS1 maint: unfit URL (link)
5. ^ Doe, John. "Checklist for Major Depression (based on DSM IV)" (PDF). alaap.org. Pediatric Practice, PC. Archived from the original (PDF) on 2 June 2016. Retrieved 18 April 2016.
6. ^ Barrett, J. E.; Williams, J. J.; Oxman, T.E.; Frank, E.; Katon, W.; Sullivan, M.; Sengupta, A. S. (2001). "Treatment of dysthymia and minor depression in primary care: A randomized trial in patients aged 18 to 59 years". The Journal of Family Practice. 50 (5): 405–412.
7. ^ Oxman, T. E.; Hegel, M. T.; Hull, J. G.; Dietrich, A. J. (2008). "Problem-solving treatment and coping styles in primary care for minor depression". Journal of Consulting and Clinical Psychology. 76 (6): 933–943. doi:10.1037/a0012617. PMC 2593861. PMID 19045962.
8. ^ Hegerl, U.; Schonknecht, P.; Mergl, R. (2012). "'Are antidepressants useful in the treatment of minor depression: A critical update of the current literature': Erratum". Current Opinion in Psychiatry. 25 (2): 163. doi:10.1097/YCO.0b013e328351053d.
9. ^ "Treatment for Minor Depression". National Institute of Mental Health. National Institutes of Health. Retrieved 18 April 2016.
10. ^ "St. John's Wort for Treating Depression". webmd. WebMD. Retrieved 18 April 2016.
11. ^ Rapaport, M. H.; Nierenberg, A. A.; Howland, R.; Dording, C.; Schettler, P. J.; Mischoulon, D. (2011). "The treatment of minor depression with St. John's wort or citalopram: Failure to show benefit over placebo". Journal of Psychiatric Research. 45 (7): 931–941. doi:10.1016/j.jpsychires.2011.05.001. PMC 3137264. PMID 21632064.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Minor depressive disorder
|
c0520675
| 25,312 |
wikipedia
|
https://en.wikipedia.org/wiki/Minor_depressive_disorder
| 2021-01-18T19:04:42 |
{"wikidata": ["Q774111"]}
|
Depressive personality disorder (also known as melancholic personality disorder) is a psychiatric diagnosis that denotes a personality disorder with depressive features.
Originally included in the American Psychiatric Association's DSM-II, depressive personality disorder was removed from the DSM-III and DSM-III-R.[1] Recently, it has been reconsidered for reinstatement as a diagnosis. Depressive personality disorder is currently described in Appendix B in the DSM-IV-TR as worthy of further study. Although no longer listed as a personality disorder, the diagnosis is included under the section “personality disorder not otherwise specified”.
While depressive personality disorder shares some similarities with mood disorders such as dysthymia, it also shares many similarities with personality disorders including avoidant personality disorder. Some researchers argue that depressive personality disorder is sufficiently distinct from these other conditions so as to warrant a separate diagnosis.
## Contents
* 1 Characteristics
* 2 Millon’s subtypes
* 3 DSM-5
* 3.1 Similarities to dysthymic disorder
* 3.2 Comorbidity with other disorders
* 4 References
* 5 Further reading
## Characteristics[edit]
This section needs additional citations for verification. Relevant discussion may be found on the talk page. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. (September 2012) (Learn how and when to remove this template message)
The DSM-IV defines depressive personality disorder as "a pervasive pattern of depressive cognitions and behaviors beginning by early adulthood and occurring in a variety of contexts."[1] Depressive personality disorder occurs before, during, and after major depressive episodes, making it a distinct diagnosis not included in the definition of either major depressive episodes or dysthymic disorder. Specifically, five or more of the following must be present most days for at least two years in order for a diagnosis of depressive personality disorder to be made:
* Usual mood is dominated by dejection, gloominess, cheerlessness, joylessness and unhappiness
* Self-concept centres on beliefs of inadequacy, worthlessness and low self-esteem
* Is critical, blaming and derogatory towards the self
* Is brooding and given to worry
* Is negativistic, critical and judgmental toward others
* Is pessimistic
* Is prone to feeling guilty or remorseful[1]
People with depressive personality disorder have a generally gloomy outlook on life, themselves, the past and the future. They are plagued by issues developing and maintaining relationships. In addition, studies have found that people with depressive personality disorder are more likely to seek psychotherapy than people with Axis I depression spectra diagnoses.
Recent studies have concluded that people with depressive personality disorder are at a greater risk of developing dysthymic disorder than a comparable group of people without depressive personality disorder.[2] These findings lead to the fact that depressive personality disorder is a potential precursor to dysthymia or other depression spectrum diagnoses. If included in the DSM-V, depressive personality disorder would be included as a warning sign for potential development of more severe depressive episodes.
Axis I disorders in subjects with and without depressive personality disorder[citation needed] Present (N=30) Absent (N=24)
Disorder N % N % pa[clarification needed]
Major depression
Current 12 40% 7 29% 0.57
Lifetime 25 83% 17 71% 0.33
Bipolar disorder
Current 2 7% 2 8% 1.00
Lifetime 2 7% 4 17% 0.39
Dysthymia
All types 11 37% 8 33% 1.00
Primary early onset 5 17% 5 21% 0.74
Any mood disorder
Current 20 67% 14 58% 0.58
Lifetime 28 93% 22 92% 1.00
Substance use disorders (lifetime) 11 37% 7 29% 0.77
Anxiety disorders (lifetime) 15 50% 11 46% 0.79
Somatoform disorders (lifetime) 2 7% 1 4% 1.00
Eating disorders (lifetime) 7 23% 1 4% 0.06
## Millon’s subtypes[edit]
Theodore Millon identified five subtypes of depression.[1][3] Any individual depressive may exhibit none, or one or more of the following:
Subtype Description Personality traits
Ill-humored depressive Including negativistic features Patients in this subtype are often hypochondriacal, cantankerous and irritable, and guilt-ridden and self-condemning. In general, ill-humored depressives are down on themselves and think the worst of everything.
Voguish depressive Including histrionic and narcissistic features Voguish depressives see unhappiness as a popular and stylish mode of social disenchantment, personal depression as self-glorifying, and suffering as ennobling. The attention from friends, family, and doctors is seen as a positive aspect of the voguish depressive’s condition.
Self-derogating depressive Including dependent features Patients who fall under this subtype are self-deriding, discrediting, odious, dishonorable, and disparage themselves for weaknesses and shortcomings. These patients blame themselves for not being good enough.
Morbid depressive Including schizoid and masochistic features Morbid depressives experience profound dejection and gloom, are highly lugubrious, and often feel drained and oppressed.
Restive depressive Including borderline and avoidant features Patients who fall under this subtype are consistently unsettled, agitated, wrought in despair, and perturbed. This is the subtype most likely to commit suicide in order to avoid all the despair in life.[1]
Not all patients with a depressive disorder fall into a subtype. These subtypes are multidimensional in that patients usually experience multiple subtypes, instead of being limited to fitting into one subtype category. Currently, this set of subtypes is associated with melancholic personality disorders. All depression spectrum personality disorders are melancholic and can be looked at in terms of these subtypes.
## DSM-5[edit]
### Similarities to dysthymic disorder[edit]
Much of the controversy surrounding the potential inclusion of depressive personality disorder in the DSM-5 stems from its apparent similarities to dysthymic disorder, a diagnosis already included in the DSM-IV. Dysthymic disorder is characterized by a variety of depressive symptoms, such as hypersomnia or fatigue, low self-esteem, poor appetite, or difficulty making decisions, for over two years, with symptoms never numerous or severe enough to qualify as major depressive disorder. Patients with dysthymic disorder may experience social withdrawal, pessimism, and feelings of inadequacy at higher rates than other depression spectrum patients. Early-onset dysthymia is the diagnosis most closely related to depressive personality disorder.[4]
The key difference between dysthymic disorder and depressive personality disorder is the focus of the symptoms used to diagnose. Dysthymic disorder is diagnosed by looking at the somatic senses, the more tangible senses. Depressive personality disorder is diagnosed by looking at the cognitive and intrapsychic symptoms. The symptoms of dysthymic disorder and depressive personality disorder may look similar at first glance, but the way these symptoms are considered distinguish the two diagnoses.
### Comorbidity with other disorders[edit]
Many researchers believe that depressive personality disorder is so highly comorbid with other depressive disorders, manic-depressive episodes and dysthymic disorder, that it is redundant to include it as a distinct diagnosis. Recent studies however, have found that dysthymic disorder and depressive personality disorder are not as comorbid as previously thought. It was found that almost two thirds of the test subjects with depressive personality disorder did not have dysthymic disorder, and 83% did not have early-onset dysthymia.[1]
The comorbidity with Axis I depressive disorders is not as high as had been assumed. An experiment conducted by American psychologists showed that depressive personality disorder shows a high comorbidity rate with major depression experienced at some point in a lifetime and with any mood disorders experienced at any point in a lifetime. A high comorbidity rate with these disorders is expected of many diagnoses. As for the extremely high comorbidity rate with mood disorders, it has been found that essentially all mood disorders are comorbid with at least one other, especially when looking at a lifetime sample size.[5]
## References[edit]
1. ^ a b c d e f Millon, T. (2006). Personality subtypes. Retrieved from http://millon.net/taxonomy/summary.htm Archived 2013-10-23 at the Wayback Machine
2. ^ Kwon, J. S.; Kim, Y. M.; Chang, C. G.; Park, B. J.; Kim, L; Yoon, D. J.; Han, W. S.; Lee, H. J.; Lyoo, I. K. (2000). "Three-year follow-up of women with the sole diagnosis of depressive personality disorder: Subsequent development of dysthymia and major depression". The American Journal of Psychiatry. 157 (12): 1966–72. doi:10.1176/appi.ajp.157.12.1966. PMID 11097962.
3. ^ Millon, Theodore, Personality Disorders in Modern Life, 2004
4. ^ University of Michigan Psychology Department, . (2006, January 20). Dysthymic disorder. Retrieved from http://www.med.umich.edu/depression/dysthymia.htm Archived 2010-02-27 at the Wayback Machine
5. ^ Nemeroff C.B. (2002). "Comorbidity of mood and anxiety disorders: the rule, not the expception?". American Journal of Psychiatry. 159 (1): 3–4. doi:10.1176/appi.ajp.159.1.3. PMID 11772680.
## Further reading[edit]
* Finnerty, Todd (2009). Depressive Personality Disorder: Understanding Current Trends in Research and Practice. Columbus, OH: WorldWideMentalHealth.com.
* Huprich, Steven K. (2009). What Should Become of Depressive Personality Disorder in DSM-V? Harvard Review of Psychiatry, 17:1,41-59.
* Millon, Theodore; Davis; Roger; Millon, Carrie (1997). MCMI-III Manual, 2nd edition. Minneapolis, MN: National Computer Systems.
* v
* t
* e
DSM personality disorders
DSM-III-R only
* Sadistic
* Self-defeating (masochistic)
DSM-IV only
Personality disorder not otherwise specified
Appendix B (proposed)
* Depressive
* Negativistic (passive–aggressive)
DSM-5
(Categorical
model)
Cluster A (odd)
* Paranoid
* Schizoid
* Schizotypal
Cluster B (dramatic)
* Antisocial
* Borderline
* Histrionic
* Narcissistic
Cluster C (anxious)
* Avoidant
* Dependent
* Obsessive-compulsive
DSM-5
Alternative hybrid categorical and dimensional model in Section III included to stimulate further research
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Depressive personality disorder
|
c0302874
| 25,313 |
wikipedia
|
https://en.wikipedia.org/wiki/Depressive_personality_disorder
| 2021-01-18T18:40:36 |
{"icd-10": ["F34.1"], "wikidata": ["Q5260921"]}
|
Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing 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
|
Linear atrophoderma of Moulin
|
c1274753
| 25,314 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140933
| 2021-01-23T17:40:55 |
{"umls": ["C1274753"], "icd-10": ["L90.8"]}
|
A rare disorder characterized by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Eng-Strom syndrome
|
c2931545
| 25,315 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1937
| 2021-01-23T18:47:12 |
{"mesh": ["C537603"], "omim": ["135950"], "umls": ["C2931545"], "icd-10": ["Q87.1"], "synonyms": ["Short stature-locking fingers syndrome"]}
|
For phenotypic information and evidence of genetic heterogeneity in this disorder, see ARVD1 (107970).
Mapping
The existence of a novel ARVD locus on chromosome 14, in addition to ARVD1 at 14q23-q24, was suggested by study of 3 small families by Severini et al. (1996). The 3 families were of various descent: Italian, Slovenian, and Belgian. There was a cumulative 2-point lod score of 3.26 for D14S252 with no recombination. With multipoint linkage analysis, a maximal cumulative lod score of 4.7 was obtained in a region between D14S252 and D14S257, mapping ARVD3 to 14q12-q22.
Cardiac \- Arrhythmogenic right ventricular cardiomyopathy \- Ventricular arrhythmias Lab \- Focal necrosis of right ventricular muscle cells \- T-wave inversion in the right precordial leads and late potentials in signal-averaging ECG Inheritance \- Autosomal dominant \- Heterogeneity ▲ 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
|
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 3
|
c1862511
| 25,316 |
omim
|
https://www.omim.org/entry/602086
| 2019-09-22T16:13:57 |
{"doid": ["0110072"], "mesh": ["C566254"], "omim": ["107970", "602086"], "orphanet": ["217656"], "synonyms": ["ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 3", "Familial isolated ARVD", "Familial isolated ARVC", "Alternative titles", "Familial isolated arrhythmogenic ventricular dysplasia", "Familial isolated arrhythmogenic ventricular cardiomyopathy", "Familial isolated arrhythmogenic right ventricular cardiomyopathy"], "genereviews": ["NBK1131"]}
|
Coffee three disease
Coffee wilt disease (tracheomycosis) is a common wilt that results in complete death of coffee trees it infects. This vascular disease is induced by the fungal pathogen known by its teleomorph Gibberella xylarioides (Fusarium xylarioides).[1] In 1927 coffee wilt disease was first observed in the Central African Republic where it developed slowly and went on to cause two epidemics between the 1930s and the 1960s. [2] Coffee wilt disease was first seen in Coffea excelsa.[3]
## Contents
* 1 Host
* 2 Symptoms and signs
* 3 Disease cycle
* 4 Importance
* 5 Management
* 6 References
## Host[edit]
Hosts of coffee wilt disease include Coffea arabica (Arabica coffee), Coffea canephora (Robusta coffee), Coffea liberica (Liberian coffee), and Coffea excelsa (Excelsa coffee)[4] Currently, the disease is limited to Eastern and Central Africa, however, studies have shown that most Coffea species are likely to be susceptible to the disease, which can potentially lead to more worldwide problems in the coffee industry.[4]
Robusta coffee tree infected by coffee wilt disease, credit The Mediae Company[5]
## Symptoms and signs[edit]
Due to the nature of coffee wilt disease, coffee plants often exhibit symptoms of disruption to vascular systems. [3] Internal symptoms are disturbances to conduction of water in the plant. External symptoms include loss of moisture on leaves, discoloration, leaf loss, dieback of the infected region, swelling of trunks, cracks in mature trees and lastly plant death.[2] Signs of coffee wilt disease include small blackish-brown perithecia caused by the sexual stage of the fungus, and cracks in the bark which cause an observable bluish-black stain on the wood.[2]
## Disease cycle[edit]
The fungal pathogen responsible for coffee wilt disease can exist on coffee trees as Gibberella xylarioides, the sexual or perfect stage, or as Fusarium xylarioides, the asexual or imperfect stage.[1] Coffee wilt disease is spread by wind-born ascospores during its sexual stage or splash-borne conidia,[1] where they land and can persist as a viable source of inoculum in the soil.[3] Infection occurs via penetration of wounds at the base of stems, mainly by the imperfect stage Fusarium xylarioides. Once the plant is infected, the fungus blocks the xylem system, which induces host responses that inevitably result in plant death.[2]
## Importance[edit]
Coffee is a major cash crop, with over 2.5 million people directly depending on its production and trade as a livelihood. For some countries, coffee accounts for 50% of primary foreign exchange, valued around 300–400 million dollars annually.[6] Reduced coffee production causes decline of revenue for some African countries,[2] which can also increase food insecurity and overall regression at grassroot level.[6] In 1945 coffee wilt disease destroyed most of Central Africa Republic's Excelsa plantations, resulting in the complete collapse of the crop.[3] This disease causes a threat for coffee growers around the globe as the disease reduces the quantity and quality of the coffee. Not only does this disease put an economic strain on countries that use coffee as a cash crop, but it also can lead to the rise of coffee prices for consumers everywhere.
## Management[edit]
Once a coffee plant is infected by coffee wilt disease, death is inevitable, making prevention the most beneficial for coffee growers.[2] Diagnosis of coffee wilt disease can be made by observing a blue-black staining after bark scraping. [2] Additionally, regular root inspections are an effective measure to catch the disease in the early stages. Once disease is found, destruction of the coffee plant by cutting it at the ground level and burning it stops the spread of the infection to other plants.[5] Restriction of movement for coffee plant, coffee husks mulch and planting materials are also useful.[7] Relocation of coffee production or replanting of resistant C. canephora germplasm, assist with combating future spread.[3] Preventive measures for coffee wilt disease infection are to avoid wounding of trees for example when removing control weeds, fertilizing soil or by grazing of any animals. Additionally, maintaining plants’ health by using inorganic fertilizer, manure or mulch to conserve moisture are some ways to decrease the risk of coffee wilt disease.[7]
## References[edit]
1. ^ a b c Hindorf, Holger; Omondi, Chrispine O. (2011-04-01). "A review of three major fungal diseases of Coffea arabica L. in the rainforests of Ethiopia and progress in breeding for resistance in Kenya". Journal of Advanced Research. 2 (2): 109–120. doi:10.1016/j.jare.2010.08.006. ISSN 2090-1232.
2. ^ a b c d e f g Flood, J. (2010). Coffee Wilt Disease. CABI. ISBN 978-1-84593-735-5.
3. ^ a b c d e Phiri, Noah; Baker, Peter (2009). "Coffee Wilt in Africa. Final technical report of the Regional Coffee Wilt Programme (2000-07)" (PDF). CABI.
4. ^ a b Girma, A.; Flood, Julie; Hindorf, H.; Bieysse, Daniel; Sarah, S.; Rutherford, Mike (2007). "Tracheomycosis (Gibberella xylarioides). A menace to world coffee production : Evidenced by cross inoculation of historical and current strains of the pathogen". 21st International Conference on Coffee Science, Montpellier (France), 11th - 15th September 2006. Retrieved 2019-12-11.
5. ^ a b Pests and Diseases | Mpeke Town, retrieved 2019-12-11
6. ^ a b Hakiza, G. J.; Birikunzira, J. B. (2000-01-01). "Current research trends on coffee wilt disease tracheomycosis". Uganda Journal of Agricultural Sciences. 5 (1): 17–21–21. ISSN 2410-6909.
7. ^ a b "Coffee Wilt Disease (Tracheomycosis) A Major Disease In Eastern and Central Africa" (PDF).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Coffee wilt disease
|
None
| 25,317 |
wikipedia
|
https://en.wikipedia.org/wiki/Coffee_wilt_disease
| 2021-01-18T18:36:11 |
{"wikidata": ["Q78188915"]}
|
Transient hyperammonemia of the newborn
SpecialtyNeonatology
Transient hyperammonemia of the newborn (THAN) is an idiopathic disorder occasionally present in preterm newborns but not always symptomatic.[1] Continuous dialysis or hemofiltration have proven to be the most effective treatment.[1][2] Nutritional support and sodium benzoate have also been used to treat THAN.[2]
## Contents
* 1 Signs and symptoms
* 2 Pathophysiology
* 3 Diagnosis
* 3.1 Differentiating between UCED and THAN
* 4 Treatment
* 5 Prognosis
* 6 Epidemiology
* 7 References
* 8 External links
## Signs and symptoms[edit]
Hyperammonemia occurs when the body produces excess ammonia. This ammonia primarily exists as ammonium ion that has a concentration less than or around 35 μmol/L in normal referenced serum levels.[3] Excess ammonia is processed in the liver through the urea cycle to produce urea.[3] Excess ammonia can be produced by bacterial hydrolysis of intestinal compounds, purine nucleotide cycles, the transamination of amino acid in voluntary muscles, and other metabolic events of filtration organs(kidneys and liver).[3] In THAN, symptoms of hyperammonemia are observed within 24 hours of birth, and the causation of hyperammonemia must exclude urea cycle disorders. If the amount of ammonia entering the brain is increased, neurological disorders such as urea cycle enzyme deficiencies, Reye syndrome, seizures, and encephalopathies may occur.[3] The most common indicator of THAN is respiratory distress syndrome. In newborns with THAN, the primary cause is thought to be genetic, but it has not been narrowed down to one gene or locus so the exact cause remains unknown.[4] Observable CNS depression, comatose, metabolic acidosis, feeding difficulties, cyanosis, abnormal EEG, increased intraventricular hemorrhage, hypotonia, and irratibility are common symptoms of THAN. Individuals that develop hyperammonemia after birth are more likely to have hyperammonemia as a result in urea cycle enzyme deficiency (UCED).[4]
## Pathophysiology[edit]
The pathophysiology for this disorder is mostly unknown but there have been a few propositions for its origin. One study suggested that a transient platelet activation of the infant's portal system is responsible for this hyperammonemia.[5] Another study proposed that this occurs due to a shunting of blood away from the portal system of the liver through the ductus venosus directly into the systemic circulation. This causes the blood to skip the step of ammonia removal in the liver.[5]
## Diagnosis[edit]
Since the etiology is unconfirmed, diagnosis is generally accomplished when there is hyperammonemia present within 24–36 hours of birth and urea cycle defects can be excluded.[5] Organic acidemias and other metabolic errors must also be excluded. The diagnostic criteria for hyperammonemia is ammonia blood levels higher than 35 μmol/L. This is accomplished by observing urine ketones, organic acids, enzyme levels and activities, and plasma and urine amino acids.[5] Mild Transient Hyperammonemia is diagnosed when ammonia levels are between 40-50 μM, lasts for about 6–8 weeks, and has no related neurological problems. Severe Transient Hyperammonemia is diagnosed when ammonia levels are above 50 μM up to as much as 4000 μM. Severe Transient Hyperammonemia causes neurological problems as ammonia levels in the brain are too high, which can cause infant hyptotonia as well as neonatal seizures.[5] Severe Transient Hyperammonemia can also cause respiratory distress syndrome.[5] Chest x-rays may resemble hyaline membrane disease.[5]
### Differentiating between UCED and THAN[edit]
A study was done by Hudak to find the differences between transient hyperammonemia of the newborn (THAN) and urea cycle enzyme deficiency(UCED) on 33 THAN victims and 13 UCED victims.[6] Some of the clinical findings were not able to be measured in the THAN patients due to lack of equipment or lack of reported information in these 33 cases, so the numbers shown represent the number of positive clinical findings/out of the number cases in which the symptom could be observed or was documented. The results were as follows: Respiratory distress occurred in 22/23 of THAN patients and only in 0/13 of UCED patients.[6] Abnormal chest radiographs were found in 23/25 THAN victims, and 0/9 in UCED patients.[6] The gestational age was less than 36 weeks in 25/31 THAN patients, but only 1/13 UCED patients.[6] The birthweight was less than 2.5 kg in 27/31 THAN patients and in 2/12 UCED patients.[6] A coma that lasted 48 hours or longer occurred in 12/17 THAN patients but only occurred in 1/12 UCED patients.[6] Free ammonia (NH4+) levels greater than 1500 μM occurred in 17/29 THAN patients but only 1/13 UCED patients.[6]
## Treatment[edit]
Although the etiology is unconfirmed, transient hyperammonemia is known to be caused by increased levels of ammonia in the blood stream, as well as a failure of the urea cycle to convert enough of the ammonia into urea.[5] Since transamination of proteins is a leading producer of ammonia, protein restriction may be recommended as a therapy to reduce the symptoms of the episode. THAN can also be treated by avoiding amino acids in TPN or total parenteral nutrition or by giving a high caloric diet to limit catabolism of the tissues and therefore to minimize the breakdown of endogenous protein.[4] The most common treatments are dialysis (both peritoneal and hemodialysis), sodium benzoate, and arginine.[5] Sodium Benzoate combines with glycine to be excreted in the form of hippuric acid.[5] The goal of these treatments is to convert nitrogen to a compound that can be excreted more easily.[5]
## Prognosis[edit]
The mortality rate for THAN is relatively high unless immediate treatment is obtained.[5] The duration of hyperammonemia is directly correlated to morbidity as well as the associated neurological conditions.[5] After the first hyperammonemic episode, there is no increased risk for future hyperammonemic episodes, and normal protein consumption can be continued.[4]
## Epidemiology[edit]
Although this data may be underestimated as a result of misdiagnosis and failure to report illnesses in fatal cases, the current estimates are fairly representative of neonates with hyperammonemia.[3] The United States has an estimated frequency of UCED of 1 per 25,000 live births.[3] The international prevalence is between an estimated 1:8,000-1:44,000, varying widely by location.[3] In order for THAN to be diagnosed, urea cycle deficiencies must be excluded, and the diagnosis must be made within 24–36 hours of birth. In 1996, one study said that there were only a confirmed 33 cases of THAN worldwide in literature.[5] This study also admitted that at first they did not consider the possibility that the infant did not have a urea cycle deficiency.[5] The hospital that this case occurred in did not have equipment to measure urea cycle enzymes, so they confirmed the diagnosis post mortem with an autopsy.[5] Therefore, it is important to consider that many infants diagnosed with regular hyperammonemia, may have actually had THAN, but the urea cycle deficiency was not excluded and therefore did not meet the criteria for diagnosis.[7]
## References[edit]
1. ^ a b Stojanovic, Vesna D.; Doronjski, Aleksandra R.; Barisic, Nenad; Kovacevic, Branka B.; Pavlovic, Vesna S. (2010). "A case of transient hyperammonemia in the newborn transient neonatal hyperammonemia". Journal of Maternal-Fetal and Neonatal Medicine. 23 (4): 347–50. doi:10.3109/14767050903168457. PMID 19658037. S2CID 2493406.
2. ^ a b Chung, MY; Chen, CC; Huang, LT; Ko, TY; Lin, YJ (2005). "Transient hyperammonemia in a neonate". Acta Paediatrica Taiwanica. 46 (2): 94–6. PMID 16302587.
3. ^ a b c d e f g Crisan, E. "Hyperammonemia". Medscape. Retrieved November 2, 2012.
4. ^ a b c d Roth, K.S. "Genetics of Hyperammonemia". Medscape. Retrieved November 12, 2012.
5. ^ a b c d e f g h i j k l m n o p Krishnan, L.; Diwakar, K.K.; Patil, P.; Bhaskaranand, N. (1996). "Transient Hyperammonemia of Newborn". The Indian Journal of Pediatrics. 63 (1): 113–116. doi:10.1007/bf02823880. PMID 10829975.
6. ^ a b c d e f g Hudak, M.L.; Jones, M.D.; Brusilow, S.W. (1985). "Differentiation of transient hyperammonemia of the newborn". Journal of Pediatrics. 107 (5): 712–719. doi:10.1016/s0022-3476(85)80398-x. PMID 4056969.
7. ^ Ballard RA, Vinocur B, Reyocur B, Reynolds JW et al. Transient hyperammonemia of the preterm infant. N Engl J ed 1978; 299 : 920-925.
## External links[edit]
Classification
D
* ICD-10: P74.8
External resources
* Orphanet: 289877
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Transient hyperammonemia of the newborn
|
None
| 25,318 |
wikipedia
|
https://en.wikipedia.org/wiki/Transient_hyperammonemia_of_the_newborn
| 2021-01-18T18:41:38 |
{"orphanet": ["289877"], "synonyms": [], "wikidata": ["Q7834281"]}
|
## Description
Polyunsaturated fatty acids (PUFA), particularly those of the n-3 or omega-3 family, have been associated with decreased risk of cardiovascular and other chronic diseases (Tanaka et al., 2009).
Mapping
In a genomewide association study of plasma levels of 6 different polyunsaturated plasma fatty acids among 1,075 Italian men and women in the InCHIANTI study on aging, Tanaka et al. (2009) found evidence for an association with chromosome 11q12-q13.1 that contains genes encoding 3 fatty acid desaturases: FADS1 (606148), FADS2 (606149), and FADS3 (606150). The SNP with the most significant association was rs174537 near FADS1 in the analysis of arachidonic acid (AA; p = 5.95 x 10(-46)). Minor allele homozygotes had lower plasma AA compared to major allele homozygotes, and rs174537 accounted for 18.6% of the additive variance in AA concentrations. This SNP was also associated with levels of eicosadienoic acid (EDA; p = 6.78 x 10(-9)) and eicosapentaenoic acid (EPA; p = 1.07 x 10(-14)). Participants carrying the allele associated with higher AA, EDA, and EPA also had higher low-density lipoprotein cholesterol (LDLC) and total cholesterol levels. The effects of rs174537 were confirmed in an independent sample of 1,076 white men and women from the U.S. in the GOLDN study. Outside the FADS gene cluster, the strongest region of association mapped to chromosome 6 in the region encoding the ELOVL2 gene (611814). In this region, association was observed with EPA (rs953413; p = 1.1 x 10(-6)). These findings show that polymorphisms of genes encoding enzymes in the metabolism of PUFAs contribute to plasma concentrations of fatty acids.
Evolution
To determine the importance of genetic variability to fatty acid biosynthesis, Ameur et al. (2012) performed genomewide genotyping in 5,652 individuals and targeted resequencing in 960 individuals of the FADS region in 5 European population cohorts. The results showed that present-day humans have 2 common FADS haplotypes that differ dramatically in their ability to generate long-chain polyunsaturated fatty acids (LC-PUFAs). The more common haplotype, haplotype D, was associated with high lipid levels (p = 1 x 10(-65)), whereas the less common haplotype, haplotype A, was associated with low lipid levels (p = 1 x 10(-52)). In both the omega-3 and omega-6 pathways, haplotype D was strongly associated with lower levels of the precursors in fatty acid synthesis (linoleic acid and alpha-linoleic acid) and higher levels of eicosapentaenoic acid (EPA), gamma-linoleic acid (GLA), docosahexaenoic acid (DHA), and arachidonic acid (AA) (the products), indicating that this haplotype is more efficient in converting the precursors to LC-PUFAs. Individuals homozygous for haplotype D had 24% higher levels of DHA and 43% higher levels of AA than those homozygous for haplotype A. Analysis of the ratios of consecutive products in fatty acid synthesis showed that both the delta-5 and delta-6 desaturase steps are affected by the FADS haplotype. The 28 SNPs defining haplotypes A and D span a 38.9-kb region, including the promoter regions of FADS1 and FADS2. Estimated from the human genome diversity panel (HGDP), the geographic distributions of haplotypes A and D differ dramatically between continents. In African populations, haplotype A is essentially absent (1% of chromosomes), whereas in Europe, West, South, and East Asia, and Oceania, it occurs at a frequency of 25 to 50%. Among the 126 Native Americans included in HGDP, haplotype A accounts for 97% of chromosomes. The very high frequency of haplotype D in Africa and the high linkage disequilibrium in the FADS region indicated that this part of the genome has been subjected to positive selection. Haplotype A is the ancestral haplotype and haplotype D, which is associated with an increased FADS activity, is specific to humans and appeared on the lineage leading to modern humans approximately 255,000 years ago, well after the split from the common ancestor of humans and chimpanzees. Ameur et al. (2012) remarked that haplotype D is likely to have been advantageous to humans living in environments with a limited access to AA and DHA fatty acids, and this could explain the signature of positive selection seen for this haplotype in African populations. In the modern world, haplotype D has been associated with lifestyle-related diseases such as coronary artery disease.
Molecular Genetics
### Polymorphism in Indigenous Arctic Populations
Fumagalli et al. (2015) scanned the genomes of Inuit from Greenland for signatures of adaptation to low annual temperatures and diets rich in protein and omega-3 polyunsaturated fatty acids (PUFAs). They found the strongest signal in a cluster of fatty acid desaturases (FADS1, FADS2, and FADS3) that determine PUFA levels. The selected alleles (rs7115739, rs174570, rs74771917, rs3168072, and rs12577276) have been associated with multiple metabolic and anthropometric phenotypes and had large effect sizes for weight and height; Fumagalli et al. (2015) replicated the effect on height in Europeans. By analyzing membrane lipids, Fumagalli et al. (2015) found that the selected alleles modulate fatty acid composition, which may affect the regulation of growth hormones. Thus, Fumagalli et al. (2015) showed that the Inuit have genetic and physiologic adaptations to a diet rich in PUFAs.
To identify regions harboring candidate genes influencing extreme cold climate adaptation phenotypes, Cardona et al. (2014) genotyped 200 individuals from 10 indigenous Siberian populations for more than 700,000 SNPs and analyzed the results for signals of positive selection. The strongest selection signals mapped to a 3-Mb region on chromosome 11 (chr11:66-69 Mb) that contains the CPT1A gene (600528).
Following up on the work of Cardona et al. (2014), Clemente et al. (2014) showed that the P479L (rs80356779) variant of CPT1A (600528.0012) is under strong positive selection. They noted that the derived allele is associated with hypoketotic hypoglycemia and high infant mortality, yet occurs at high frequency in Canadian and Greenland Inuits and was also found at 68% frequency in their indigenous northeast Siberian sample, but was absent from other publicly available genomic databases. Clemente et al. (2014) provided evidence of one of the strongest selective sweeps reported in humans, which drove the P479L variant to high frequency in circum-Arctic populations within the last 6,000 to 23,000 thousand years despite associated deleterious consequences, possibly as a result of the selective advantage it originally provided to either a high-fat diet or a cold environment. The traditional diet of indigenous Arctic peoples consists largely of marine mammals and is thus rich in n-3 polyenoic fatty acids, which are known to increase the activity of CPT1A. In this context, a CPT1A activity decrease due to the P479L mutation could be protective against overproduction of ketone bodies.
Andersen and Hansen (2018) reviewed the genetics of metabolic traits in Greenlanders and noted that the strongest signal of positive selection reported in Greenlanders and Siberians is the FADS-CPT1A locus on chromosome 11 (PUFAQTL1). The T allele of the CPT1A variant P479L (rs80356779), encoding leu479, is fixed in the ancestral Inuit population, along with the rs174570 mapping to FADS2, even though approximately 7 Mb separates these 2 variants (Andersen et al., 2016). This unusual long-range linkage disequilibrium phenomenon makes it difficult to determine whether the FADS and CPT1A selection signatures represent the same signal or 2 independent signals. However, in Europeans, in whom the P479L variant is monomorphic, a signal of selection has been observed in the FADS locus. Andersen and Hansen (2018) noted that the Inuit-specific leu479 form of CPT1A had in cell studies been shown to have markedly reduced enzymatic function, but in combination with reduced sensitivity to malonyl-CoA inhibition. At fasting, this results in moderately reduced beta-oxidation, whereas in the postprandial state the reduced inhibitory sensitivity has a greater impact, as malonyl-CoA concentration is high. Hence, in cell studies, the enzymatic activity of CPT1A has been shown to be 3- to 4-fold higher postprandially in leu479 homozygotes compared to pro479 homozygotes, thereby possibly explaining the background for positive selection at this locus, as increased CPT1A activity favors utilization of fat as an energy source and thereby seems favorable for the Inuit living on a diet rich in 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
|
POLYUNSATURATED FATTY ACIDS PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1
|
c2748551
| 25,319 |
omim
|
https://www.omim.org/entry/612795
| 2019-09-22T16:00:35 |
{"omim": ["612795"]}
|
A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.
## Epidemiology
The overall prevalence of all CCMs has been estimated at 1/200 to 1/1,000 individuals. Familial cerebral cavernous malformation (FCCM) represents about 20% of all CCM cases with an estimated prevalence of 1/5,000 -1/10,000 and is therefore rare, contrarily to sporadic CCMs which are not. A strong founder effect has been found in Hispanic-American CCM families.
## Clinical description
Close to 60% of FCCM patients are symptomatic. FCCM usually manifests between 20 to 30 years of age, but clinical manifestations can occur at any age. Symptoms include seizures (40-70%), non-specific headaches (10-30%), progressive or transient focal neurologic deficits (35-50%), and/or cerebral hemorrhages (41%). FCCM patients most often present with multiple lesions, ranging from a few millimeters to a few centimeters in size. FCCMs occur predominantly in the brain, but have also been reported in the spinal cord, retina (5% of FCCM patients) and skin.
## Etiology
To date, mutations in three genes have been demonstrated to cause familial CCM; KRIT1, CCM2 and PDCD10, located on chromosome 7q21.2, 7p13, and 3q26.1 respectively, which encode proteins that, among their various functions, modulate junction formation between vascular endothelial cells.
## Diagnostic methods
Cerebral magnetic resonance imaging (MRI) revealing the CCM(s) is the gold standard investigation to diagnose CCM and should include a T2 gradient echo sequence which is highly sensitive for hemosiderin. MRI shows multiple lesions in most FCCM patients in contrast with sporadic cases who harbor only one lesion. The detection of multiple CCM lesions is therefore strongly suggestive of the genetic nature of the disease. Molecular screening of FCCM genes is sometimes useful to ascertain the diagnosis in patients showing atypical MRI lesions; however, in most cases, it is used for genetic counseling.
## Differential diagnosis
In cases presenting with atypical hemorrhagic MRI lesions, the differential diagnosis of FCCM includes multiple hemorrhagic metastases or hereditary cerebral hemorrhage with amyloidosis.
## Antenatal diagnosis
Prenatal diagnosis is possible. However, in practice, very few prenatal diagnoses are requested in this disease (mostly in families where several patients have been severely affected with CCMs in the basal ganglia or spinal cord or pons).
## Genetic counseling
FCCM is transmitted as an autosomal dominant trait with incomplete penetrance. Genetic counseling should be offered to the affected families informing them of the 50% risk of inheriting the mutated gene. Other important considerations in evaluating the genetic predisposition of CCMs include the number of lesions on the MRI brain scan, family history of CCM clinical characteristics, and the age of onset.
## Management and treatment
Regular check-ups, generally with an MRI once a year, are recommended after the discovery of a CCM, as additional asymptomatic lesions may appear with time. These MRI check-ups can be spaced to once every 5 years in the absence of intercurrent symptoms. Treatment of seizures and headaches is symptomatic. Lesions causing severe disabling seizures and/or focal neurologic deficits and/or cerebral hemorrhages call for surgical removal of lesions whenever possible. Acetylsalicylic acid, heparin and warfarin may increase the risk of hemorrhage.
## Prognosis
FCCM is an evolving condition with a strong correlation between the patient's age and the number of CCM lesions. The hemorrhagic event rate is estimated at 2-5% per lesion per year. Functional outcome is mostly conditioned by the location of CCM lesions, with brainstem and basal ganglia lesions having a worse prognosis. Available data suggest that in most patients the long-term prognosis is quite favorable with a preserved autonomy in 80% of 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
|
Familial cerebral cavernous malformation
|
c2931263
| 25,320 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=221061
| 2021-01-23T18:59:58 |
{"mesh": ["C536610"], "omim": ["116860", "603284", "603285"], "umls": ["C2931263"], "icd-10": ["Q28.3"], "synonyms": ["Familial brain cavernous angioma", "Familial cerebral cavernoma", "Hereditary brain cavernous angioma", "Hereditary cerebral cavernoma", "Hereditary cerebral cavernous malformation"]}
|
Mule spinners' cancer or mule-spinners' cancer was a cancer, an epithelioma of the scrotum. It was first reported in 1887 in a cotton mule spinner.[1] In 1926, a British Home Office committee strongly favoured the view that this form of cancer was caused by the prolonged action of mineral oils on the skin of the scrotum, and of these oils, shale oil was deemed to be the most carcinogenic. From 1911 to 1938, there were 500 deaths amongst cotton mule-spinners from cancer of the scrotum, but only three amongst wool mule spinners.[2]
Piecing a mule with the right hand in 1892, showing where the faller bar is in regards to the 12-year-old piecer's groin
## Contents
* 1 Introduction
* 2 Mule spinning
* 3 The cancer
* 4 Mineral oil and alternative theories
* 5 Home Office enquiry
* 5.1 Recommendations
* 6 See also
* 7 References
* 7.1 Notes
* 7.2 Bibliography
## Introduction[edit]
About 1900, there was a high incidence of scrotal cancer detected in former mule spinners. The cancer was limited to cotton mule spinners and did not affect woollen or condenser mule spinners. The cause was attributed to the blend of vegetable and mineral oils used to lubricate the spindles. The spindles, when running, threw out a mist of oil at crotch height, that was captured by the clothing of anyone piecing an end. In the 1920s, much attention was given to this problem. Mules had used this mixture from the 1880s, and cotton mules ran faster and hotter than the other mules, and needed more frequent oiling. The solution was to make it a statutory requirement to only use vegetable oil or white mineral oils, which were believed to be non-carcinogens. But by then, cotton mules had been superseded by the ring frame and the industry was contracting, therefore it was never established if these measures were effective.[3]
## Mule spinning[edit]
Main article: Spinning mule
A pair of 150-foot (46 m) long self-acting mules with 1320 spindles each would be tended by three employees: the minder or operative spinner, the big piecer, and the little piecer. The little piecer would start in the mulegate on his fourteenth birthday, and rise to the status of a minder. All these men worked barefoot, wearing white light cotton trousers. There were four basic tasks: creeling, doffing, cleaning and piecing.[4] Creeling and piecing would both be done while the mule was in motion. Creeling was about replacing the bobbins in the creel while piecing the old disappearing thread with the new; it was done from behind the mule. Piecing was about joining any ends that had broken. The piecer would catch the snarled fuzzy broken end at the top of the spindle in his right hand and pull out some clean thread and wrap it around the left forefinger. This would be pressed into clean roving emerging from the attenuating rollers, pulling the hand away when the two had twisted together. All this was done while walking back and forth with the carriage, contact being made using the three of four seconds when the piecer was close enough to lean over the frame and reach the rollers. At this moment, left arm and leg forward, his crotch was adjacent to the base of the spindles.[5]
## The cancer[edit]
This cancer was a manifestation of scrotal squamous cell carcinoma which had first been noted in 1775 by Sir Percival Pott in climbing boys or chimney sweepers. It was the first industrially related cancer to be identified and was originally called soot wart, then chimney sweeps cancer. He describes it:
> It is a disease which always makes it first attack on the inferior part of the scrotum where it produces a superficial, painful ragged ill-looking sore with hard rising edges ... in no great length of time it pervades the skin, dartos and the membranes of the scrotum, and seizes the testicle, which it inlarges [sic], hardens and renders truly and thoroughly distempered. Whence it makes its way up the spermatic process into the abdomen.
He comments on the life of the boys:
> The fate of these people seems peculiarly hard ... they are treated with great brutality ... they are thrust up narrow and sometimes hot chimnies, [sic] where they are bruised burned and almost suffocated; and when they get to puberty they become ... liable to a most noisome, painful and fatal disease.
The carcinogen was thought to be coal tar possibly containing some arsenic.[6][7]
When the first case of scrotal squamous cell carcinoma in a cotton worker in the Manchester Hospital records in 1887, shale oil had been used in the mills for 35 years. A heavier oil was used once a day on the carriage and wheels but a lighter oil was applied three to four times to the spindles. The heavier oil may come into contact with the minders' hands, but it was the lighter oil that was sprayed from the spindles and saturated the spinners' light cotton trousers at the level of the pubis and groins above the scrotum. Piecers would remove any heavy oil from their hands by wiping them on the trousers. Brockbank in his 1941 paper:
> In most men the bar is on a level with the pubis and groins above the scrotum. In a hot room the spinners in vest and overalls only perspire freely, and this must tend to wash off the natural grease on the skin and allow the oil to get onto it. In over 80% of the cases occur on the left side, this may be due to one or more of the following causes: firstly the left side hangs anatomically lower than the right, this will be more pronounced when the spinner is bending forward to piece with his left hand; perspiration from the lower part of the abdomen will then tend to run down the left side and the left side and less often the middle of the scrotum will come into contact with the left thigh and the oily trousers some hundreds of times a day.[1]
## Mineral oil and alternative theories[edit]
Leitch reported, in 1922, that he had painted mineral oil from shale onto mice, inducing carcinomas, while Henry reported, in 1926, that shale oil was used on the rapidly rotating spindles, which, due to centrifugal force, sprayed out. There were, however, skeptics. Alternative theories included those such as the spinners were more susceptible to this cancer because they wore less clothing than wool spinners, and, notably, there was the issue of lack of underpants. Dr. Robertson argued the cancer was caused by stretching while piecing. In stretching, abrasion was caused by upward pull and consequent tightening of overalls dragging on the scrotum. Others blamed it on the want of bodily cleanliness.
## Home Office enquiry[edit]
A Home Office enquiry was launched in March 1925 and reported back in 1926, with S. A. Henry of Manchester as secretary. It identified mineral oil as the prime cause and drew up a list of recommendations.
### Recommendations[edit]
Firstly that guards should be fitted along the faller bar of all mules; and
* Institution of experimental research into oils with a view to finding oils which are innocuous and at the same time suitable as lubricants
* Development of a non-splash type of spindle bearing, more particularly for new mules
* Prevention of oil splash from the spindles of existing mules by means of some form of guard, the type to be decided by a series of tests to be mutually agreed upon and arranged by the Masters' Federation and the operative spinners
* Periodic medical examination of the workers
* (a) To be tried at first on a voluntary basis, but, if unsuccessful in one year or at any subsequent period, to be made compulsory
* (b) To be performed at the factory
* (c) To take place at least every four months
* (d) To include every worker in the mule-spinning room who is 30 years of age and over
* (e) To be performed by three or four medical men appointed by the trade, with Home Office approval, for the whole area or failing this by special medical men appointed for suitable areas by the Home Office in conjunction with trade representatives, all workers in any given area to be examined by one man.
* Education by periodic distribution of leaflets in order direct attention to the importance of cleanliness and to the dangers of delay in securing early treatment
## See also[edit]
* Chimney sweeps' carcinoma
## References[edit]
### Notes[edit]
1. ^ a b Brockbank 1941
2. ^ Lee & McCann 1967, p. 148
3. ^ Catling 1986, p. 179
4. ^ Catling 1986, pp. 154, 160
5. ^ Catling 1986, p. 156
6. ^ Schwartz, Robert A. (2008). Skin Cancer: Recognition and Management (3 ed.). Wiley. p. 55. Retrieved 2011-05-02.
7. ^ Waldron 1983, p. 391
### Bibliography[edit]
* Catling, Harold (1986). The Spinning Mule. Preston: The Lancashire Library. ISBN 0-902228-61-7.
* Lee, W. R.; McCann, J. K. (1967). "Mule Spinners' Cancer and the Wool Industry". British Journal of Industrial Medicine. 24 (2): 148–51. doi:10.1136/oem.24.2.148. PMC 1008545. PMID 6071507.
* Brockbank, E. M. (1941). "Mule-Spinner's Cancer". BMJ. London. 1 (April 26th, 1941): 622–624. doi:10.1136/bmj.1.4190.622. PMC 2161739. PMID 20783633.
* Waldron, H. A. (1983). "A brief history of scrotal cancer". British Journal of Industrial Medicine. 40 (4): 390–401. doi:10.1136/oem.40.4.390. PMC 1009212. PMID 6354246.
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*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
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*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
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*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
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*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
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*[CPA]: cyproterone acetate
*[U.S.]: United States
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*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
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*[[*]]: Article is not yet available in this wiki.
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*[NSW DCR]: New South Wales District Court Reports
|
Mule spinners' cancer
|
None
| 25,321 |
wikipedia
|
https://en.wikipedia.org/wiki/Mule_spinners%27_cancer
| 2021-01-18T18:43:00 |
{"wikidata": ["Q6933902"]}
|
Axillary nerve palsy
SpecialtyEmergency medicine
Axillary nerve palsy is a neurological condition in which the axillary (also called circumflex) nerve has been damaged by shoulder dislocation. It can cause weak deltoid and sensory loss below the shoulder.[1] Since this is a problem with just one nerve, it is a type of Peripheral neuropathy called mononeuropathy.[2] Of all brachial plexus injuries, axillary nerve palsy represents only .3% to 6% of them.[3]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 3.1 Medical Tests
* 4 Treatment
* 5 References
* 6 Further reading
## Signs and symptoms[edit]
Axillary nerve palsy patients present themselves with differing symptoms. For instance, some axillary nerve palsy patients complain that they cannot bend their arm at the elbow, however no other pain or discomfort exists.[4] To further complicate diagnosis, onset of palsy can be delayed and may not be noticed until 12-24 hours after the trauma of shoulder region occurred.[5] Therefore it is important to recognize the symptoms, but also to realize that different people have various combinations of them.[citation needed]
Symptoms include:
* cannot bend arm at the elbow[4]
* deficiency of deltoid muscle function[6]
* different regions of skin around the deltoid area can lack sensation[6]
* unable to raise arm at the shoulder[7]
## Causes[edit]
Anatomically, damage to the axillary nerve or suppression of it causes the palsy.[5] This suppression, referred to as entrapment, causes the nerve pathway to become smaller and impulses cannot move through the nerve as easily.[2] Furthermore, if trauma causes damage to the myelin sheath, or injures the nerve another way, this will also reduce the ability of nerve impulse flow.[2]
Usually, an outside force is acting to suppress the nerve, or cause nerve damage.[2] Most commonly, shoulder dislocation or fractions in the shoulder can cause the palsy.[8] Contact sports such as football and hockey can cause the injury[9] Other cases have been caused by repeated crutch pressure or injuries accidentally caused by health professionals (iatrogenesis).[7] Furthermore, following an anterior shoulder operation; damage to the axillary nerve is possible and has been documented by various surgeons, thus causing axillary nerve palsy.[10] Other possible causes include: deep infection, pressure from a cast or splint, fracture of the humerus, or nerve disorders in which the nerves become inflamed.[2]
There are rare causes of axillary nerve palsy that do occur. For instance, axillary nerve palsy can occur after there is blunt trauma in the shoulder area without any sort of dislocation or fracture.[5] Examples of this blunt trauma may include: being hit by heavy an object, falling on shoulder, a strong blow while participating in boxing, or motor vehicle accidents.[5] Another rare cause of axillary nerve palsy can occur after utilizing a side birthing position. When the patient lies on their side for a strenuous amount of time, they can develop axillary nerve palsy. This rare complication of labor can occur due to the prolonged pressure on the axillary nerve while in a side-birth position.[4] Some patients who are diagnosed with nodular fasciitis may develop axillary nerve palsy if the location of the rapid growth is near the axilla.[11] In the case of Nodular Fasciitis, a fibrous band or the growth of a schwannoma can both press against the nerve, causing axillary nerve palsy.[11] An injury to the axillary nerve normally occurs from a direct impact of some sort to the outer arm, though it can result from injuring a shoulder via dislocation or compression of the nerve. The axillary nerve comes from the posterior cord of the brachial plexus at the coracoid process and provides the motor function to the deltoid and teres minor muscles. An EMG can be useful in determining if there is an injury to the axillary nerve. The largest numbers of axillary nerve palsies arise due to stretch injuries which are caused by blunt trauma or iatrogenesis. Axillary nerve palsy is characterized by the lack of shoulder abduction greater than 30 degrees with or without the loss of sense in the low two thirds of the shoulder. Normally the patients that have axillary nerve palsy are involved in blunt trauma and have a number of shoulder injuries. Surgery is not always required to solve the problem (information from: Midha, Rajiv, Zager, Eric. Surgery of Peripheral Nerves: A Case-Based Approach. Thieme Medical Publishers, Inc. 2008.)
## Diagnosis[edit]
### Medical Tests[edit]
A variety of methods may be used to diagnose axillary nerve palsy. The health practitioner may examine the shoulder for muscle atrophy of the deltoid muscle.[2] Furthermore, a patient can also be tested for weakness when asked to raise the arm.[2] The deltoid extension lag sign test is one way to evaluate the severity of the muscle weakness. During this test, the physician stands behind the patient and uses the patient's wrist to elevate the arm. Then, the patient is told to hold this position without the doctor's assistance. If the patient cannot hold this position on their own and an angular drop occurs, the angular lag is observed as an indicator of axillary nerve palsy. When the shoulder is at its maximum extension, only the posterior area of the deltoid muscle and the axillary nerve are working to raise the arm. Therefore, no other muscles can provide compensation, which allows the test to be an accurate measure of the axillary nerve’s dysfunction.[6]
Additional testing includes electromyography (EMG) and nerve conduction tests. However, these should not be done right after the injury because results will be normal. These tests must be executed weeks after the initial injury and onset of symptoms.[2] An MRI (magnetic resonance imaging) or X-Ray may also be done by a doctor.[2]
## Treatment[edit]
In many cases recovery happens spontaneously and no treatment is needed.[2] This spontaneous recovery can occur because distance between the injury location and the deltoid muscle is small.[7] Spontaneous recovery may take as long as 12 months.[5]
In order to combat pain and inflammation of nerves, medication may be prescribed.[2]
Surgery is an option, but it has mixed results within the literature and is usually avoided because only about half of people who undergo surgery see any positive results from it.[3] Some suggest that surgical exploration should be considered if no recovery occurs after 3 to 6 months.[9] Some surgical options include nerve grafting, neurolysis, or nerve reconstruction.[12] Surgery results are typically better for younger patients (under 25) and for nerve grafts less than six centimeters.[13]
For some, recovery does not occur and surgery is not possible. In these cases, most patients’ surrounding muscles can compensate, allowing them to gain a satisfactory range of motion back.[8] Physical therapy or Occupational therapy will help retrain and gain muscle tone back.[2]
## References[edit]
1. ^ Wilkinson, Iain; Lennox, Graham (2005). Essential Neurology (4th ed.). Wiley-Blackwell. p. 158. ISBN 978-1-4051-1867-5.
2. ^ a b c d e f g h i j k l MedlinePlus Encyclopedia: Axillary nerve dysfunction
3. ^ a b Tyagi, A.; Drake, J.; Midha, R.; Kestle, J. (2000). "Axillary Nerve Injuries in Children". Pediatric Neurosurgery. 32 (5): 226–9. doi:10.1159/000028942. PMID 10965267.
4. ^ a b c Ouchi, Nozomi; Suzuki, Shunji (2008). "Lateral axillary nerve palsy as a complication of labor". Journal of Maternal-Fetal and Neonatal Medicine. 21 (3): 217–8. doi:10.1080/14767050801927905. PMID 18297578.
5. ^ a b c d e Berry, Henry; Bril, Vera (1982). "Axillary nerve palsy following blunt trauma to the shoulder region: a clinical and electrophysiological review". Journal of Neurology, Neurosurgery, and Psychiatry. 45 (11): 1027–32. doi:10.1136/jnnp.45.11.1027. PMC 491640. PMID 7175526.
6. ^ a b c Hertel, R; Lambert, S.M; Ballmer, F.T (1998). "The deltoid extension lag sign for diagnosis and grading of axillary nerve palsy". Journal of Shoulder and Elbow Surgery. 7 (2): 97–9. doi:10.1016/S1058-2746(98)90217-8. PMID 9593085.
7. ^ a b c Schaumburg, Herbert H.; Berger, Alan R.; Thomas, Peter Kynaston (1992). Disorders of Peripheral Nerves. Philadelphia: F.A. Davis Company. p. 226. ISBN 978-0-8036-7734-0.
8. ^ a b Palmer, Simon; Ross, Alistair (1998). "Case report. Recovery of shoulder movement in patients with complete axillary nerve palsy". Annals of the Royal College of Surgeons of England. 80 (6): 413–5. PMC 2503143. PMID 10209411.
9. ^ a b Perlmutter, Gary S.; Apruzzese, William (1998). "Axillary Nerve Injuries in Contact Sports: Recommendations for Treatment and Rehabilitation". Sports Medicine. 26 (5): 351–61. doi:10.2165/00007256-199826050-00005. PMID 9858397.
10. ^ McFarland, Edward G.; Caicedo, Juan Carlos; Kim, Tae Kyun; Banchasuek, Prachan (2002). "Prevention of Axillary Nerve Injury in Anterior Shoulder Reconstructions: Use of a Subscapularis Muscle-Splitting Technique and a Review of the Literature". The American Journal of Sports Medicine. 30 (4): 601–6. doi:10.1177/03635465020300042101. PMID 12130416.
11. ^ a b Nishida, Yoshihiro; Koh, Shukuki; Fukuyama, Yoko; Hirata, Hitoshi; Ishiguro, Naoki (2010). "Nodular fasciitis causing axillary nerve palsy: A case report". Journal of Shoulder and Elbow Surgery. 19 (4): e1–4. doi:10.1016/j.jse.2009.10.023. PMID 20189836.
12. ^ Bonnard, C.; Anastakis, D. J.; Van Melle, G.; Narakas, A. O. (1999). "Isolated and combined lesions of the axillary nerve". The Journal of Bone and Joint Surgery. 81 (2): 212–7. doi:10.1302/0301-620X.81B2.8301. PMID 10204923.
13. ^ Wehbe, Joseph; Maalouf, Ghassan; Habanbo, Joseph; Chidiac, Rita Maria; Braun, Emanuel; Merle, Michel (2004). "Surgical treatment of traumatic lesions of the axillary nerve. A retrospective study of 33 cases". Acta Orthopaedica Belgica. 70 (1): 11–8. PMID 15055312.
## Further reading[edit]
* Midha, Rajiv; Zager, Eric, eds. (2008). Surgery of Peripheral Nerves: A Case-Based Approach. Thieme Medical Publishers. ISBN 978-0-86577-860-3.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Axillary nerve palsy
|
c2062709
| 25,322 |
wikipedia
|
https://en.wikipedia.org/wiki/Axillary_nerve_palsy
| 2021-01-18T18:42:28 |
{"icd-10": ["S44.3"], "wikidata": ["Q4830470"]}
|
Enamel-dentine fracture is a complete fracture of the tooth enamel and dentine without the exposure of the pulp. Pulp sensibility testing is recommended to confirm pulpal health. Treatment depends on how close the fracture is in relation to the pulp. If a tooth fragment is available, it can be bonded to the tooth. Otherwise, provisional treatment can be done, which the exposed dentine can be covered using glass ionomer cement or a more permanent treatment restoration using dental composite resin or other accepted restorative dental materials. If the exposed dentine is within 0.5mm of the pulp, clinically a pink appearance can be seen. This shows close proximity to the pulp. In this case, calcium hydroxide is used to place at the base and then covered with a material such as ionomer.[1]
## References[edit]
1. ^ "Dental Trauma Guide".
This dentistry article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Enamel-dentine fracture
|
c2945567
| 25,323 |
wikipedia
|
https://en.wikipedia.org/wiki/Enamel-dentine_fracture
| 2021-01-18T18:47:23 |
{"umls": ["C2945567"], "wikidata": ["Q48973578"]}
|
Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double vision. Over time, individuals with SCA6 may develop loss of coordination in their arms, tremors, and uncontrolled muscle tensing (dystonia).
Signs and symptoms of SCA6 typically begin in a person's forties or fifties but can appear anytime from childhood to late adulthood. Most people with this disorder require wheelchair assistance by the time they are in their sixties.
## Frequency
The worldwide prevalence of SCA6 is estimated to be less than 1 in 100,000 individuals.
## Causes
Mutations in the CACNA1A gene cause SCA6. The CACNA1A gene provides instructions for making a protein that forms a part of some calcium channels. These channels transport positively charged calcium atoms (calcium ions) across cell membranes. The movement of these ions is critical for normal signaling between nerve cells (neurons) in the brain and other parts of the nervous system. The CACNA1A gene provides instructions for making one part (the alpha-1 subunit) of a calcium channel called CaV2.1. CaV2.1 channels play an essential role in communication between neurons in the brain.
The CACNA1A gene mutations that cause SCA6 involve 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 4 to 18 times within the gene. In people with SCA6, the CAG segment is repeated 20 to 33 times. People with 20 repeats tend to experience signs and symptoms of SCA6 beginning in late adulthood, while people with a larger number of repeats usually have signs and symptoms from mid-adulthood.
An increase in the length of the CAG segment leads to the production of an abnormally long version of the alpha-1 subunit. This version of the subunit alters the location and function of the CaV2.1 channels. Normally the alpha-1 subunit is located within the cell membrane; the abnormal subunit is found in the cell membrane as well as in the fluid inside cells (cytoplasm), where it clusters together and forms clumps (aggregates). The effect these aggregates have on cell functioning is unknown. The lack of normal calcium channels in the cell membrane impairs cell communication between neurons in the brain. Diminished cell communication leads to cell death. Cells within the cerebellum, which is the part of the brain that coordinates movement, are particularly sensitive to the accumulation of these aggregates. Over time, a loss of cells in the cerebellum causes the movement problems characteristic of SCA6.
### Learn more about the gene associated with Spinocerebellar ataxia type 6
* CACNA1A
## 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.
As the altered CACNA1A gene is passed down from one generation to the next, the length of the CAG trinucleotide repeat often slightly increases. A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Spinocerebellar ataxia type 6
|
c0752124
| 25,324 |
medlineplus
|
https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-6/
| 2021-01-27T08:24:38 |
{"gard": ["10351"], "mesh": ["D020754"], "omim": ["183086"], "synonyms": []}
|
Chronic deciduitis
Other namesPlasma cell deciduitis
Micrograph of a chronic deciduitis, showing the characteristic plasma cells. H&E stain.
Chronic deciduitis is a type of long-lasting inflammation that arises in pregnancy and affects the endometrial stromal tissue (decidua).
It is associated with preterm labour.[1] The diagnosis rests primarily on the presence of plasma cells.[2]
* Intermed. mag.
* High mag.
## See also[edit]
* Chorioamnionitis
* Decidua
## References[edit]
1. ^ Edmondson, N.; Bocking, A.; Machin, G.; Rizek, R.; Watson, C.; Keating, S. (2009). "The prevalence of chronic deciduitis in cases of preterm labor without clinical chorioamnionitis". Pediatr Dev Pathol. 12 (1): 16–21. doi:10.2350/07-04-0270.1. PMID 18171100. S2CID 25693917.
2. ^ Khong, TY.; Bendon, RW.; Qureshi, F.; Redline, RW.; Gould, S.; Stallmach, T.; Lipsett, J.; Staples, A. (Mar 2000). "Chronic deciduitis in the placental basal plate: definition and interobserver reliability". Hum Pathol. 31 (3): 292–5. doi:10.1016/s0046-8177(00)80241-5. PMID 10746670.
## External links[edit]
Classification
D
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Chronic deciduitis
|
None
| 25,325 |
wikipedia
|
https://en.wikipedia.org/wiki/Chronic_deciduitis
| 2021-01-18T18:41:18 |
{"wikidata": ["Q5113966"]}
|
Cytomegalovirus retinitis
Other namesCMV retinitis
Fundus photograph of CMV retinitis
SpecialtyOphthalmology
SymptomsBlurred vision[1]
CausesBone marrow transplant, HIV/AIDS[1]
Diagnostic methodOphthalmologic exam, blood test[1]
MedicationAntivirals (oral or intraocular injection)[2]
Cytomegalovirus retinitis, also known as CMV retinitis, is an inflammation of the retina of the eye that can lead to blindness.[1] Caused by human cytomegalovirus, it occurs predominantly in people whose immune system has been compromised, 15-40% of those with AIDS.[3] There are different types of retinitis, such as retinitis pigmentosa (causes tunnel vision).[medical citation needed]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Mechanism
* 4 Diagnosis
* 5 Treatment
* 6 See also
* 7 References
* 8 Further reading
* 9 External links
## Signs and symptoms[edit]
The symptoms of cytomegalovirus retinitis have it usually starting in one eye (and also have the possibility of retinal detachment), presenting as:[1]
* Blurred vision
* Blind spots
* Specks in your vision
## Cause[edit]
Leukemia
Cytomegalovirus (a type of herpes virus) is what causes cytomegalovirus retinitis. Other types of herpes viruses include herpes simplex viruses and Epstein-Barr virus. Once an individual is infected with these viruses they stay in the body for life.[4] What triggers the virus to reactivate are the following (though CMV can also be congenital).[5]
* Leukemia
* AIDS
* Immunosuppressive chemotherapy
## Mechanism[edit]
Human cytomegalovirus (HCMV or CMV) is a DNA virus in the family Herpesviridae known for producing large cells with nuclear and cytoplasmic inclusions,[6] CMV infects around 40% of the population worldwide.[7]
Those areas infected by cytomegalovirus have cells evolve to necrosis, though inflammation within the retina is not great. Rhegmatogenous retinal detachments can occur following the development of holes in areas of healed retinitis (retina may be atrophic).[8][9] Proliferative vitreoretinopathy has been observed in cases of retinal detachment.[10]
## Diagnosis[edit]
PCR result, Gel electrophoresis
The diagnosis of CMV retinitis can be done via the following:[5][11]
* Ophthalmic screening frequency is based on CD4 count,(CD4 < 50 cells/mL, 0- 35% possibility of CMV retinitis)
* BUN
* CD8+ T-lymphocyte count
* CMV DNA capture ( polymerase chain reaction (PCR) test)
* DNA PCR ( ocular fluids)
* Viral load
* Complete blood count
## Treatment[edit]
Ganciclovir
In terms of the treatment of cytomegalovirus retinitis, oral valganciclovir, intravenous ganciclovir, IV foscarnet, and IV cidofovir are all efficient in the treatment of this condition. Also intravitreal injections, an injection of medicine into the vitreous near the retina, of foscarnet in concomitance with oral valganciclovir can be used for treatment as well.[12][2][13]
Often individuals with CMV retinitis will need surgery for either retinal detachment or intravitreal instillation of ganciclovir. Retinal detachment occurs in up to 29% of affected eyes, repair being most effective with endolaser and silicone oil endotamponade. Intravitreal ganciclovir implant has the benefit of less systemic toxicity. An adverse effect of this is retinal detachment (and vitreous hemorrhage), also there is no systemic beneficial effect for cytomegalovirus organ disease.[5]
## See also[edit]
* List of systemic diseases with ocular manifestations
* Progressive outer retinal necrosis
## References[edit]
1. ^ a b c d e "Cytomegalovirus retinitis : MedlinePlus Medical Encyclopedia". www.nlm.nih.gov. Retrieved 2016-03-14.
2. ^ a b "Inflammatory Retinal Diseases. Medical information | Patient". Patient. Retrieved 2016-03-16.
3. ^ V, Narendran; Kothari, Abhishek (2014-05-30). Principles and Practice of Vitreoretinal Surgery. JP Medical Ltd. p. 571. ISBN 9789351520979.
4. ^ "CMV | Overview | Cytomegalovirus and Congenital CMV Infection | CDC". www.cdc.gov. Retrieved 2016-03-16.
5. ^ a b c "CMV Retinitis Clinical Presentation: History, Physical, Causes". emedicine.medscape.com. Retrieved 2016-03-16.
6. ^ Kumar, Bhushan; Gupta, Somesh (2014-02-10). Sexually Transmitted Infections. Elsevier Health Sciences. p. 399. ISBN 9788131229781.
7. ^ Offermanns S, Rosenthal W (2008). Encyclopedia of Molecular Pharmacology (2nd ed.). Springer. pp. 437–438. ISBN 978-3-540-38916-3.
8. ^ "Rhegmatogenous Retinal Detachment Clinical Presentation: History, Physical, Causes". emedicine.medscape.com. Retrieved 2016-03-16.
9. ^ Cheeran, Maxim C.-J.; Lokensgard, James R.; Schleiss, Mark R. (2009-01-01). "Neuropathogenesis of Congenital Cytomegalovirus Infection: Disease Mechanisms and Prospects for Intervention". Clinical Microbiology Reviews. 22 (1): 99–126. doi:10.1128/CMR.00023-08. ISSN 0893-8512. PMC 2620634. PMID 19136436.
10. ^ Sadaka, Ama; Giuliari, Gian Paolo (2012-01-01). "Proliferative vitreoretinopathy: current and emerging treatments". Clinical Ophthalmology. 6: 1325–1333. doi:10.2147/OPTH.S27896. ISSN 1177-5467. PMC 3429288. PMID 22942638.
11. ^ Foster, C. Stephen; Vitale, Albert T. (2013-03-30). Diagnosis & Treatment of Uveitis. JP Medical Ltd. p. 449. ISBN 9789350255728.
12. ^ "Cytomegalovirus Disease | Adult and Adolescent OI Prevention and Treatment Guidelines | AIDSinfo". AIDSinfo. Retrieved 2016-03-16.
13. ^ "Intravitreal injection: MedlinePlus Medical Encyclopedia". www.nlm.nih.gov. Retrieved 2016-03-16.
## Further reading[edit]
* Ljungman, Per; Griffiths, Paul; Paya, Carlos (2002-04-15). "Definitions of Cytomegalovirus Infection and Disease in Transplant Recipients". Clinical Infectious Diseases. 34 (8): 1094–1097. doi:10.1086/339329. ISSN 1058-4838. PMID 11914998.
* Heiden, David; Ford, Nathan; Wilson, David; Rodriguez, William R; Margolis, Todd; Janssens, Bart; Bedelu, Martha; Tun, Nini; Goemaere, Eric (2007). "Cytomegalovirus Retinitis: The Neglected Disease of the AIDS Pandemic". PLOS Medicine. 4 (12): e334. doi:10.1371/journal.pmed.0040334. PMC 2100142. PMID 18052600.
* Campbell, Robert J; Chow, Benjamin; Victor, Gary; Kravcik, Steven; Hodge, William G (2001-01-01). "Treatment of CMV retinitis with intravitral ganciclovir in the HAART era". The Canadian Journal of Infectious Diseases. 12 (5): 300–304. doi:10.1155/2001/851845. ISSN 1180-2332. PMC 2094829. PMID 18159353.
## External links[edit]
* "Eye Implant Effective in Treating CMV Retinitis | National Eye Institute". nei.nih.gov. Retrieved 2016-03-17.
Classification
D
* ICD-10: B25.8, H30.9
* ICD-9-CM: 078.5
* MeSH: D017726
External resources
* MedlinePlus: 000665
* eMedicine: oph/701
Scholia has a topic profile for Cytomegalovirus retinitis.
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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
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*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
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*[m.]: married
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*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
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|
Cytomegalovirus retinitis
|
c0206178
| 25,326 |
wikipedia
|
https://en.wikipedia.org/wiki/Cytomegalovirus_retinitis
| 2021-01-18T19:04:52 |
{"gard": ["9531"], "mesh": ["D017726"], "umls": ["C0206178"], "icd-9": ["078.5"], "icd-10": ["H30.9", "B25.8"], "wikidata": ["Q4271835"]}
|
Vesicular pemphigoid
SpecialtyDermatology
Vesicular pemphigoid is a cutaneous condition, a clinical variant of bullous pemphigoid, characterized by a dermatitis herpetiformis-like presentation with grouped small tense blisters.[1]
## See also[edit]
* Bullosis diabeticorum
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 434. ISBN 978-1-4160-2999-1.
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Vesicular pemphigoid
|
None
| 25,327 |
wikipedia
|
https://en.wikipedia.org/wiki/Vesicular_pemphigoid
| 2021-01-18T18:32:49 |
{"wikidata": ["Q7923227"]}
|
A number sign (#) is used with this entry because of evidence that oblique facial clefting-1 (OBLFC1) is caused by heterozygous mutation in the SPECC1L gene (614140) on chromosome 22q11. One such patient has been reported.
Heterozygous mutation in the SPECC1L gene can also cause Opitz GBBB syndrome type II (GBBB2; 145410), which includes facial clefting as a feature.
Description
Oblique facial clefts are a rare form of orofacial clefting, comprising about 0.25% of all facial clefts. Two major types have been described classically: nasoocular and oroocular, the latter of which can be subdivided into oromedial-canthal and orolateral-canthal (summary by Dasouki et al., 1988).
Clinical Features
Dasouki et al. (1988) reported an 8-month-old girl with congenital bilateral oblique facial clefts. On each side of the face, a complete cleft extended from the lateral nostril to the medial canthus, consistent with an oromedial-canthal type of cleft. The cleft involved the lip, gingiva, and palate to the vomer bone. The corneae and sclerae were covered by cutaneous ectoderm and granulation tissue, and there were synechiae between this tissue and the eyelids. There was severe ocular hypoplasia and coloboma of the right eye. Brain imaging showed normal brain parenchyma. The rest of the physical examination was notable for 4 symmetric circumferential cutaneous folds on the arms and legs, deep palmar creases, and unilateral calcaneovarus foot deformity. However, the symmetric distribution of the facial clefts suggested that amniotic bands were unlikely to be causal. The patient had a type 4 Tessier cleft (Tessier, 1976; Saadi et al., 2011).
Saadi et al. (2011) reported a Brazilian infant with severe Tessier 4 clefting on the right and mild Tessier 7 clefting on the left. He had normal eyes and no other birth defects.
### Clinical Variability
Richieri-Costa and Gorlin (1994) described 4 patients with oblique facial clefts. Complex clefts of the face of this type had usually been considered a disruptive event resulting from amniotic bands. Three of them had clefts of Tessier type 5; the fourth had Tessier type 4 on the right and Tessier type 6 on the left. Limb abnormalities were present in 2 of the 4. The authors suggested that these cases represented a distinct autosomal recessive oculomaxillofacial dysplasia in light of the parental consanguinity, absence of chromosomal abnormalities, and normal relatives.
Inheritance
Although most reported cases of oblique facial clefting are sporadic (Saadi et al., 2011), 3 of 4 patients reported by Richieri-Costa and Gorlin (1994) were the products of first-cousin marriages, suggesting autosomal recessive inheritance.
Cytogenetics
In an 8-month-old girl with congenital bilateral oblique facial clefts, Dasouki et al. (1988) identified a balanced de novo reciprocal translocation t(1;22)(q21;q12) by karyotype analysis. Saadi et al. (2011) provided follow-up of the patient reported by Dasouki et al. (1988), and revised the translocation breakpoints to t(1;22)(q21.3;q11.23). Saadi et al. (2011) determined that the 22q11.23 breakpoint occurred within a 5-kb region in intron 14 of the SPECC1L gene, whereas there were no known genes within the 1q21 breakpoint region. Patient-derived lymphoblastoid cells showed SPECC1L haploinsufficiency at the RNA level. Cultured cells failed to form large clumps due to a defect in integrin-based cell adhesion and showed reduced numbers of F-actin microspikes and filopodia.
Molecular Genetics
In 1 of 23 patients with Tessier 4 oblique facial clefting, Saadi et al. (2011) identified a heterozygous de novo pathogenic missense mutation in the SPECC1L gene (Q415P; 614140.0001). The patient was of Brazilian origin. In vitro functional expression studies in human osteosarcoma cells showed that the mutant protein impaired the formation of stabilized acetylated alpha-tubulin-containing microtubules. Saadi et al. (2011) concluded that the orofacial clefting resulted from defects in the cells involved in the developing facial prominences; namely, impaired cell migration and adhesion due to an inability to reorganize actin properly.
INHERITANCE \- Autosomal dominant HEAD & NECK Face \- Orofacial clefting, oblique \- Oromedial-canthal clefting Eyes \- Coloboma (patient A) \- Ocular hypoplasia (patient A) Mouth \- Cleft lip \- Cleft palate SKELETAL Hands \- Deep palmar creases (patient A) Feet \- Calcaneovarus (patient A) MISCELLANEOUS \- De novo mutation \- Patient A had a balanced de novo reciprocal translocation t(1,22)(q21,q12) involving intron 14 of SPECC1L \- Two patients have been reported (last curated August 2017) MOLECULAR BASIS \- Caused by mutation in the sperm antigen with calponin homology and coiled-coil domains 1-like gene (SPECC1L, 614140.0001 ) ▲ 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
|
FACIAL CLEFTING, OBLIQUE, 1
|
c1838348
| 25,328 |
omim
|
https://www.omim.org/entry/600251
| 2019-09-22T16:16:25 |
{"mesh": ["C537736"], "omim": ["600251"], "orphanet": ["141258"], "synonyms": ["Alternative titles", "OCULOMAXILLOFACIAL DYSPLASIA WITH OBLIQUE FACIAL CLEFTS"]}
|
An example of shoe fetishism: model Eve Casini licking a high heel.
Shoe fetishism is the attribution of attractive sexual qualities to shoes or other footwear as a matter of sexual preference, or an alternative or complement to a relationship with a partner.[1][2] It has also been known as retifism, after the French novelist Nicolas-Edme Rétif (1734–1806), also known as Rétif de la Bretonne, who wrote a novel about it (presumably based on his own penchants) called Fanchette's Foot, which preference or penchant seems to have been if not "all the rage" at the time at least known to have been practiced or suffered by more than handsful of somewhat important individuals of that period (pre-Revolutionary France).
Individuals with shoe fetishism can be erotically interested in women's shoes.[3][4] Although shoes may appear to carry sexual connotations in mainstream culture (for example, women's shoes are commonly sold as being "sexy"), this opinion refers to an ethnographic or cultural context, and is likely not intended to be taken literally.[5] Another fetishism, which sometimes is seen as related to shoe fetishism, is boot fetishism.
## Contents
* 1 Prevalence
* 2 Popular culture
* 3 See also
* 4 References
## Prevalence[edit]
In order to determine the relative prevalences of different types of fetishes, scientists obtained a sample of at least 5,000 individuals worldwide from 381 discussion groups on the internet. The relative prevalences were estimated based on the number of groups devoted to a particular fetish, the number of individuals participating in the groups and the number of messages exchanged.[citation needed]
Using these measures, feet and shoes were found to be the most common target of preferences. This is consistent with an analysis of millions of search queries by users from the United States that were accidentally released during the AOL search data scandal.[6][unreliable source?] 64% of the sampled population that had a preference for an object associated with the body had a preference for shoes, boots, and other footwear.[7][8]
## Popular culture[edit]
In the 19th century, Central European students drank wine or Champagne from their lady's shoe or bootlet as a sign of devotion. The custom is noted in the opera of 1882, Der Bettelstudent, where Symon drinks Champagne from Laura's shoe at their wedding. In commemoration of this romantic tradition, the French shoe manufacturer Louboutin issued in 2009, a glass shaped like a woman's shoe, which was reviewed critically by the German daily, Die Welt.[9][10]
The Sex and the City episode, "La Douleur Exquise!", featured a shoe salesman with a shoe and foot fetish, who allowed Charlotte York to have expensive shoes for free simply for allowing him to assist her in trying on various pairs of open shoes whilst he openly complimented her on the state of her feet and offered her foot reflexology. The relationship came to an end when Charlotte figured out she had been getting discounts because she was letting him hold her feet and was further discomforted by the salesman obviously climaxing while assisting her with the sixth pair of the day.
The movie There's Something About Mary featured a former boyfriend of Mary, Dom "Woogie" Wooganowski, played by Chris Elliott, with a shoe fetish. He tried to steal her shoes.
In the animated comedy show Family Guy, the character Glenn Quagmire has a foot and shoe fetish, among other fetishes.
In the movie from 1993 in Spanish, The Bilingual Lover, written and directed by Vicente Aranda from an adaptation from a novel by Juan Marsé, shoe fetishism pervades the whole story.
In the movie from 1995, While You Were Sleeping, starring Sandra Bullock, the main character's landlord, played by Michael Rispoli, has a shoe fetish.
In the television series from 2000 in Japanese, Bus Stop, the main character, Musashi, has a strong interest in high heels, and at one point repairs a broken high heel for the woman he is pursuing.
## See also[edit]
* Human sexuality portal
* Boot fetishism
* Clothing fetish
* Foot fetishism
* Footjob
* Fuck-me shoes
* Lionel Bussey
* Sexual fetishism
## References[edit]
1. ^ World Health Organization, International Statistical Classification of Diseases and Related Health Problems, (2007), Chapter V, F65.0 Disorders of sexual preference.
2. ^ Peter Jerome Fagan. Contributor Paul R McHugh. Sexual Disorders: Perspectives on Diagnosis and Treatment. JHU Press. 2003. ISBN 0-8018-7527-7. p.78
3. ^ Weinberg, M. S.; Williams, C. J.; Calhan, C. (1994). "Homosexual foot fetishism". Archives of Sexual Behavior. 23 (6): 611–626. doi:10.1007/bf01541815. PMID 7872858.
4. ^ Weinberg, M. S.; Williams, C. J.; Calhan, C. (1995). ""If the shoe fits…": Exploring male homosexual foot fetishism". The Journal of Sex Research. 32: 17–27. doi:10.1080/00224499509551770.
5. ^ Pietz, William (1987) ‘The Problem of the Fetish II: The Origin of the Fetish’, RES: Journal of Anthropology and Aesthetics 13.
6. ^ AOL search data (archived link, April 4, 2009)
7. ^ Scorolli, C.; Ghirlanda, S.; Enquist, M.; Zattoni, S.; Jannini, E. A. (2007). "Relative prevalence of different fetishes". International Journal of Impotence Research. 19 (4): 432–437. doi:10.1038/sj.ijir.3901547. PMID 17304204.
8. ^ Dobson, Roger (2007). Heels are the world's No 1 fetish. The Independent Online Edition, "Archived copy". Archived from the original on 2008-05-20. Retrieved 2007-02-01.CS1 maint: archived copy as title (link), accessed February 2007.
9. ^ "Champagner aus einen Schuh trinken". Champagnerwelt.com. Retrieved 2013-06-15.
10. ^ "Kolumne: Inga Griese : Champagner nach Art des Schuh-Fetisch - Nachrichten Debatte - Kolumnen - Inga Griese - DIE WELT". Welt.de. 2011-11-23. Retrieved 2013-06-15.
* v
* t
* e
Sexual fetishism
Actions, states
* Aquaphilia
* Autassassinophilia
* Coprophilia
* Cuckold / Cuckquean
* Emetophilia
* Erotic hypnosis
* Erotic lactation
* Erotic spanking
* Exhibitionism
* Forced seduction
* Gaining and feeding
* Medical fetishism
* Omorashi
* Paraphilic infantilism (adult baby)
* Pregnancy
* Smoking
* Tickling
* Total enclosure
* Transvestic
* Tightlacing
* Tamakeri
* Urolagnia
* Vorarephilia
* Wet and messy fetishism
Body parts
* Armpit
* Breast
* Belly
* Buttocks
* Eyeball
* Fat
* Feet
* Hands
* Height
* Hair
* Legs
* Navels
* Noses
Clothing
* Boots
* Ballet boots
* Boot worship
* Thigh-high boots
* Clothing
* Corset
* Diapers
* Gloves
* Pantyhose
* Latex
* Rubber and PVC
* Shoes
* Spandex
* Underwear
* Uniforms
Objects
* Balloons
* Dolls
* Latex and PVC
* Robots
* Spandex
Controversial / illegal
* Lust murder
* Necrophilia
* Rape fantasy
* Zoophilia
Culture / media
* Artists
* Fetish art
* Fetish clubs
* Fashion
* Magazines
* Models
Race
* Asian sexual fetishism
* Ethnic pornography
* Sexual racism
Related topics
* BDSM
* FetLife
* International Fetish Day
* Kink
* Leather subculture
* Leather Pride flag
* Sexual roleplay
* Book
* Category
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Shoe fetishism
|
None
| 25,329 |
wikipedia
|
https://en.wikipedia.org/wiki/Shoe_fetishism
| 2021-01-18T18:38:12 |
{"wikidata": ["Q1651685"]}
|
A number sign (#) is used with this entry because Ritscher-Schinzel syndrome-1 (RTSC1) is caused by homozygous mutation in the KIAA0196 gene (WSHC5; 610657) on chromosome 8q24.
Description
The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have severe developmental delay (summary by Leonardi et al., 2001; Seidahmed et al., 2011).
### Genetic Heterogeneity of Ritscher-Schinzel Syndrome
See also RTSC2 (300963), caused by mutation in the CCDC22 gene (300859) on chromosome Xp11.
Clinical Features
Ritscher et al. (1987) reported the cases of 2 sisters who had brain malformation in the region of the posterior fossa and atrioventricular septal defect together with similar craniofacial anomalies. The craniofacial anomalies included macrocephaly, a prominent forehead and occiput, foramina parietalia, hypertelorism, downslanting palpebral fissures, depressed nasal bridge, narrow palate, and apparently low-set ears. One sister had a Dandy-Walker malformation (220200) with communicating hydrocephalus, aplasia of the posterior portion of the cerebellar vermis, and high insertion of the confluent sinus. In the other sister, a Dandy-Walker variant was found with aplasia of the cerebellar vermis and hypoplasia of the hemispheres, large cisterna magna, high insertion of the confluent sinus, but no hydrocephalus. Both sibs were mildly mentally retarded. The older sister had a complete atrioventricular canal and died after unsuccessful heart operation at 3.5 years of age. The younger sister had a successful heart operation on a cleft mitral valve and septum primum defect. The parents were normal and Ritscher et al. (1987) suggested autosomal recessive inheritance. Lauener et al. (1989) provided follow-up information on the surviving younger sister, who was found to have a humoral immunodeficiency with markedly reduced immunoglobulin levels, especially affecting IgG2 and IgG4 subclasses, and antipolysaccharide antibody formation. Although possibly only coincidence, the authors suggested that the immunodeficiency might be a manifestation of the syndrome.
Verloes et al. (1989) described an isolated case in a daughter of nonconsanguineous parents. The child showed wide fontanels and facial dysmorphism (evoking cleidocranial dysplasia), cerebellar vermis hypoplasia, aplasia of the first ribs, multifocal sternal ossification centers, and cardiac septal defects. Mims and Say (1989) reported a case. Gurrieri and Neri (1992) reported a case of a child who showed camptodactyly of the fifth finger and hypoplasia of terminal phalanges with microonychia. Hoo et al. (1994) described 2 unrelated patients. They emphasized the presence of high and prominent forehead, hypoplastic vermis and cyst of the posterior fossa with or without hydrocephalus, and an atrial or atrioventricular septal defect with or without other heart anomalies.
Marles et al. (1995) observed 3 male and 5 female Canadian children from 7 families with features they considered to represent the Ritscher-Schinzel syndrome. Three of the families were related. The parents of the 2 affected sibs were consanguineous, but the other 2 sets of parents in these 3 families were not, to the best of their knowledge. All parents and other sibs were clinically unaffected, with parental ages ranging from 21 to 33 years. In addition to a distinctive facial appearance, the affected children showed variable combinations of ocular colobomas, hypertelorism, macrocephaly, hand anomalies, congenital heart defects, structural CNS posterior fossa malformations, and mental retardation. Ocular coloboma occurred in 6 of the patients.
Among 162 non-Down syndrome cases of atrioventricular canal, Digilio et al. (1995) found 1 patient they considered to have the 3C (craniocerebellocardiac) syndrome.
Saraiva et al. (1995) described an affected female infant with facial dysmorphism, cerebellar hypoplasia, hydrocephaly, Dandy-Walker malformation, atrial septal defects, abnormal vertebral segmentation, and syndactyly of toes 4-5. In addition to these typical manifestations of the 3C syndrome, the patient also had glaucoma.
In an analysis of cardiovascular malformations (CVM) in the 3C syndrome, Lurie and Ferencz (1996) found at least 9 types of CVM in 24 cases, including 4 cases from the Baltimore-Washington infant study. The proportion of the different CVM forms were similar to that of the general population. They pointed out that the same is also true for many other syndromes of multiple congenital abnormalities (MCA), due either to aneuploidy or to mendelian mutation. They proposed the hypothesis that the basic mutation (or chromosome imbalance) affects cellular homeostasis and leads to the shifting of a threshold to the left. This allows the expression of some genes silent under normal conditions. Fraser (1996) pointed out that their observations drew attention to an important but underappreciated relationship, namely, that factors influencing susceptibility to specific malformations may act by influencing the normal developmental pattern. This idea is based on the multifactorial threshold model, which postulates that many genes and environmental factors interact to determine a continuous distribution of susceptibility (liability), which is separated by a threshold into discontinuous parts, i.e., affected and unaffected. In the view of Fraser (1996), the message of Lurie and Ferencz (1996) is that each embryo has specific constellations of genes that determine its liability to specific malformations; a major insult, such as a 3C mutant gene or an environmental teratogen, may destabilize several developmental systems; the type of malformation produced will depend on how the embryo's genes influence its particular set of developmental patterns and hence its susceptibilities. That may be why the same mutant gene causes different malformations in different embryos. Fraser (1996) suggested that if the above is true the (unexposed) near relatives of children with phenytoin-induced cleft lip may have an increased frequency of cleft lip, and likewise for valproate-induced neural tube defects. The frequency of cleft lip should be higher in sibs when Meckel syndrome (249000) patients have cleft lip than when they do not. A frequency of heart malformations should increase in the sibs of patients with any syndrome in which heart malformations sometimes, but not always, occur.
On review of previously reported cases and study of 2 new cases of Ritscher-Schinzel syndrome, Kosaki et al. (1997) demonstrated: (1) Although varying degrees of vermis hypoplasia are accompanied by hypotonia, delayed gross motor function improves with advancing age, leaving speech delay as the major neurodevelopmental handicap. (2) Two different types of cardiac anomalies occur: defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to complete AV canal, and/or conotruncal defects. (3) Postnatal growth deficiency was seen in most patients in whom longitudinal information was available. In their review of patients with vermis hypoplasia, Kosaki et al. (1997) identified a patient diagnosed as having Joubert syndrome (213300) who had most findings of the Ritscher-Schinzel syndrome, and several other patients diagnosed as having Dandy-Walker syndrome (220200) who likely also had Ritscher-Schinzel syndrome, suggesting that the latter disorder is more common than had been appreciated. Kosaki et al. (1997) suggested that careful search for the subtle facial changes characteristic of Ritscher-Schinzel syndrome as well as coloboma, cleft palate/bifid uvula, short neck, syndactyly, and hypoplasia of the nails is warranted when evaluating patients with Dandy-Walker malformation with or without clinical signs of Joubert syndrome.
Orstavik et al. (1998) described 3 sibs with this disorder, born to consanguineous Pakistani parents. All 3 children had atrial septal defects II and ventricular septal defects and died within 3 months. Two of them had a Dandy-Walker malformation, whereas 1 had only slightly dilated ventricles. One sib had anal atresia, and another a ventrally displaced anus.
Wheeler et al. (1999) stated that at least 20 individuals with this condition had been reported. They described a girl with the 3C syndrome who at the age of 13 years was the oldest patient reported. She had been followed since birth, allowing them to show the evolution of her phenotype. In addition, she had documented growth hormone deficiency. Wheeler et al. (1999) suggested that growth hormone deficiency should be considered as a possible cause of the short stature often seen in this condition.
Leonardi et al. (2001) reported 4 cases of the Ritscher-Schinzel syndrome and reviewed all reported cases. Of the 9 craniofacial anomalies commonly reported as part of the syndrome, they concluded that cleft palate and ocular coloboma are the most readily and objectively ascertainable. The other 7 craniofacial traits, however, are somewhat subjective, require expert interpretation, and are sometimes difficult to ascertain in a newborn or stillborn fetus. The 7 other traits are prominent forehead, prominent occiput, hypertelorism, downslanting palpebral fissures, low-set ears, depressed nasal bridge, and micrognathia. At least 4 of these were present in all cases that had a secure diagnosis of the syndrome. Leonardi et al. (2001) proposed the following criteria for the diagnosis of this syndrome in a chromosomally normal sporadic case: the presence of cardiac malformation other than isolated patent ductus arteriosus (see 607411), cerebellar malformation, and cleft palate or ocular coloboma, or 4 of the 7 more subjective traits.
Papadopoulou et al. (2005) reported a male child with 3C syndrome who, in addition to previously reported features, had Wormian bones of the skull, intraabdominal testes, and posterior embryotoxon.
Iyer and Smith (2005) described a patient with 3C syndrome. The female infant presented with the characteristic features of Dandy-Walker malformation of the brain, congenital cardiac defect, dysmorphic facies, and postnatal growth failure. She had gastroesophageal reflux and severe feeding difficulties which were still present at the age of 4 years. Despite her numerous medical problems, she demonstrated near-normal development.
Craft et al. (2010) reported 2 sibs, a girl and a boy, born of consanguineous Pakistani parents, with features reminiscent of 3C syndrome. Both had delayed psychomotor development and dysmorphic facial features, including downslanting palpebral fissures, prominent nasal bridge, micrognathia, and small head size. Both patients and an otherwise unaffected sister had flexion contractures of the fingers; the affected sister also had flexion contractures of the large joints and scoliosis. The affected sister had marked cerebellar vermis hypoplasia, ventricular septal defect, and mitral valve stenosis, but the affected brother did not have cardiac defect or abnormal findings on brain MRI. Neither had cleft palate/Robin sequence. Craft et al. (2010) noted that there is phenotypic variability in 3C syndrome, but also suggested some overlap with the phenotype (611961) in 2 sisters reported by Stevenson and Carey (2007).
Seidahmed et al. (2011) reported a consanguineous Saudi family in which 4 children had features consistent with the 3C syndrome, including global developmental delay, dysmorphic facial features, congenital heart malformation, and CNS anomalies, including Dandy-Walker malformation, hydrocephalus, and cerebellar vermis hypoplasia. Additional features in this family included sparse hair, camptodactyly, and renal anomalies, such as horseshoe kidney, renal agenesis, or dysplastic cystic kidney. However, 2 girls in the family who had no other features of the 3C syndrome also had genitourinary anomalies, suggesting that 2 different disorders may run in this highly consanguineous family.
Stevens and Lachman (2010) described 2 sibs, a stillborn male born at 27 weeks' gestation and a female born at 31 weeks' gestation who died at 7 days of age, with a phenotype characterized by Dandy-Waker malformation, congenital heart defects, joint contractures, genital hypoplasia, distinctive facial features, rhizomelic and mesomelic limb shortening, hooked clavicles, dumbbell femurs, and absent talus and calcaneus ossification. Because of the bone anomalies, Stevens and Lachman (2010) suggested that the phenotype in these sibs was different from other skeletal disorders with Dandy-Walker malformation, including Ritscher-Schinzel syndrome, and represented a previously undescribed autosomal recessive lethal skeletal dysplasia.
Elliott et al. (2013) reported 11 patients from the First Nation isolated population in northern Manitoba, Canada, with RTSC. Four of the patients had previously been reported by Marles et al. (1995). All patients had intellectual disability and dysmorphic facial features, including macrocephaly, brachycephaly, prominent forehead, low posterior hairline, wide and downslanting palpebral fissures, hypertelorism, and low-set ears. Three patients had ocular coloboma. Six patients had variable cardiac septal defects. Central nervous system abnormalities included Dandy-Walker malformation (4 patients), enlarged ventricles, hypoplasia of the cerebellar vermis, and increased cerebrospinal fluid in various brain regions.
Cytogenetics
DeScipio et al. (2005) noted considerable phenotypic overlap between chromosome 6pter-p24 deletion syndrome (612582) and 3C syndrome. They did not identify deletions of chromosome 6p in 7 additional unrelated patients with 3C syndrome, including the original family reported by Ritscher et al. (1987).
Inheritance
Stellingwerff et al. (2006) performed segregation analysis on 27 pedigrees with 3C syndrome selected from the literature. The results of 3 different methods were consistent with autosomal recessive inheritance. However, the authors emphasized that reporting of patients with 3C syndrome should include evaluation of chromosome 6p copy number, as subtelomeric chromosome 6p deletion has been associated with a similar phenotype (DeScipio et al., 2005).
The transmission pattern of Ritscher-Schinzel syndrome in the families reported by Marles et al. (1995) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 11 patients with Ritscher-Schinzel syndrome from an isolated community in northern Manitoba, Canada, Elliott et al. (2013) identified a homozygous splice site mutation in the KIAA0196 gene (610657.0004). The mutation was found by homozygosity mapping followed by candidate gene sequencing, and segregated with the disorder in the families. Four of the patients had previously been reported by Marles et al. (1995). Analysis of patient cells showed an 8-fold decrease in KIAA0196 mRNA compared to controls, suggesting that the mutant transcript may be subject to nonsense-mediated mRNA decay. Western blot analysis showed that the protein was reduced by 60% compared to controls.
Population Genetics
Marles et al. (1995) and Elliott et al. (2013) reported Ritscher-Schinzel syndrome in First Nation patients from an isolated, remote community in northern Manitoba, Canada. Eleven patients were found to carry the same homozygous splice site mutation in the KIAA0196 gene (610657.0004), consistent with a founder effect. Fifteen of 133 newborn blood spot samples from the same population were heterozygous for the mutation, indicating that 1 in 9 individuals from this region is a carrier of the disorder. This result predicted that 1 in 325 children in the next generation will have the Ritscher-Schinzel syndrome.
INHERITANCE \- Autosomal recessive GROWTH Other \- Intrauterine growth retardation HEAD & NECK Head \- Prominent occiput \- Brachycephaly Face \- Micrognathia \- Tall, broad forehead Ears \- Low-set ears Eyes \- Coloboma \- Hypertelorism \- Downslanting palpebral fissures Nose \- Depressed nasal bridge Mouth \- Cleft palate CARDIOVASCULAR Heart \- Ventricular septal defect \- Atrial septal defect \- Tetralogy of Fallot \- Double outlet right ventricle \- Hypoplastic left heart \- Aortic stenosis \- Pulmonic stenosis CHEST Ribs Sternum Clavicles & Scapulae \- Absent ribs ABDOMEN Gastrointestinal \- Anal atresia GENITOURINARY External Genitalia (Male) \- Hypospadias Kidneys \- Hydronephrosis SKELETAL Spine \- Hemivertebrae Hands \- Syndactyly SKIN, NAILS, & HAIR Hair \- Low posterior hairline NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Dandy-Walker malformation \- Cerebellar vermis hypoplasia \- Posterior fossa cysts \- Hydrocephalus \- Hypotonia ENDOCRINE FEATURES \- Adrenal hypoplasia \- Growth hormone deficiency PRENATAL MANIFESTATIONS Placenta & Umbilical Cord \- Single umbilical artery MOLECULAR BASIS \- Caused by mutation in the KIAA0196 gene (KIAA0196, 610657.0004 ) ▲ 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
|
RITSCHER-SCHINZEL SYNDROME 1
|
c0796137
| 25,330 |
omim
|
https://www.omim.org/entry/220210
| 2019-09-22T16:29:00 |
{"doid": ["0060571"], "mesh": ["C535313"], "omim": ["220210"], "orphanet": ["7"], "synonyms": ["Alternative titles", "CRANIOCEREBELLOCARDIAC DYSPLASIA", "3C SYNDROME", "DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT"]}
|
A number sign (#) is used with this entry because of evidence that this phenotype is caused by a mutation in the mitochondrial tRNA(Ile) gene (590045).
Clinical Features
Wilson et al. (2004) identified a Caucasian kindred (K129) ascertained through a proband with hypermagnesemia. Evaluation of her extended kindred revealed a high prevalence of hypomagnesemia, hypertension, and hypercholesterolemia. Wilson et al. (2004) performed a detailed clinical evaluation of 142 blood relatives in the kindred. Including the index case, 38 members had hypertension (blood pressure greater than 140/90 mm Hg or on treatment for hypertension), 33 had hypercholesterolemia (with total cholesterol greater than 200 mg/dl or on treatment for hypercholesterolemia), and 32 had clinically significant hypomagnesemia (range 0.8 to 1.7 mg/dl, normal 1.8 to 2.5 mg/dl). Hypomagnesemic individuals were distributed through 4 generations and 16 sibships, and both genders were affected; there was no significant effect of age on magnesium levels, and no hypomagnesemic subjects were taking magnesium-altering medications. All 32 members with hypomagnesemia were on the same maternal lineage. Affected fathers never transmitted the trait to their offspring (0 of 17 offspring), whereas affected mothers transmitted the trait to a high fraction of their offspring (16 of 21). Because of these features mitochondrial inheritance was deemed likely, with a chi square value of 49, p less than 10(-11). Members of the maternal lineage had a marked increase in urinary fractional excretion of magnesium (p = 0.0001); this effect was most pronounced among subjects with hypomagnesemia, establishing impaired renal magnesium absorption as the cause of hypomagnesemia in the K129 kindred. Hypokalemia due to inappropriate renal loss was also more frequently seen on the maternal lineage, predominantly among hypomagnesemic subjects. Urinary sodium excretion was equivalent in both groups. Hypertension also segregated with the maternal lineage. Thirty of 53 adults on the maternal lineage had blood pressure greater than 140/90 or were being treated with antihypertensive medication, versus 8 of 53 on the nonmaternal lineage (p less than 0.00001). The prevalence of hypertension on the maternal lineage showed a marked age dependence, increasing from 5% in subjects under age 30 (1 of 20) to 44% in those from age 30 to 50 (10 of 23 subjects), and to 95% in those over age 50 (19 of 20 subjects). Among adults age 18 to 60, maternal lineage increased systolic blood pressure by an average of 13 mm Hg and diastolic blood pressure by 5 mm Hg. On the maternal lineage, 24 of 46 had fasting total cholesterol greater than 200 or were being treated with cholesterol-lowering medication, versus 9 of 49 on the nonmaternal lineage (p = 0.0004). The relationship remained highly significant when the analysis was restricted to adults age 18 to 60. Quantitative analysis of total cholesterol among adults age 18 to 60 after adjustment for age, sex, and BMI revealed that maternal lineage increased total cholesterol by an average of 26 mg/dl. This increase was attributable to elevations in LDL and VLDL, with no effect on fasting HDL or triglycerides. In sum, of 45 adults on the maternal lineage who were evaluated for all 3 traits, 38 had 1 or more of hypertension, hypercholesterolemia, or hypomagnesemia, 26 had 2 or more, and 7 had all 3.
Wilson et al. (2004) carefully evaluated members of K129 for the presence of additional clinical phenotypes commonly associated with mitochondrial dysfunction. Prevalence of migraine headache, sensorineural hearing loss, and hypertrophic cardiomyopathy were increased on the maternal lineage. Measures of fasting HDL, triglycerides, insulin resistance, BMI, and diabetes mellitus were not significantly different between the 2 lineages. Immunohistochemistry of a skeletal muscle biopsy from a member of the maternal lineage revealed an increase in ragged-red fibers and subsarcolemmal succinate dehydrogenase staining, characteristic features of individuals carrying mitochondrial mutations. Electron microscopy demonstrated cytoplasmic lipid accumulation, increased glycogen stores, and dysmorphic mitochondrial cristae, further signs of mitochondrial dysfunction. In vivo nuclear magnetic resonance (NMR) spectroscopy of skeletal muscle in this patient demonstrated normal tricarboxylic acid cycle flux but reduced adenosine triphosphate production, suggesting impaired coupling of these processes.
Molecular Genetics
All affected individuals in the kindred K129 studied by Wilson et al. (2004) were found to have a thymidine-to-cytidine transition at nucleotide 4291 (590045.0007), which lies within the mitochondrial tRNA isoleucine gene. The mutation was found only on the maternal lineage in K129, did not appear among thousands of mitochondrial genomes previously sequenced, and was absent among 170 unrelated control individuals. The mutation was homoplasmic in all members of the maternal lineage regardless of phenotype, with the assay sufficiently sensitive to detect 1% heteroplasmy. Uridine at the position immediately 5-prime to the tRNA isoleucine anticodon is one of the most extraordinarily conserved bases in the biologic world. It is conserved in every sequenced isoleucine tRNA, including 242 different species of archaebacteria, eubacteria, unicellular and multicellular eukaryotes, animals, plants, chloroplasts, and mitochondria.
Wilson et al. (2004) commented that hypomagnesemia, hypertension, and hypercholesterolemia each showed approximately 50% penetrance among patients on the maternal lineage. The nearly stochastic distributions of these traits on the maternal lineage and the nonsignificant correlations among their quantitative values on the maternal lineage suggests that these are independent, pleiotropic effects of the mitochondrial mutation. Wilson et al. (2004) concluded that the results of this study suggest that loss of mitochondrial function with age could contribute to the characteristic age-related increase in blood pressure and to its clustering with hypercholesterolemia in the general population.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
HYPOMAGNESEMIA, HYPERTENSION, AND HYPERCHOLESTEROLEMIA, MITOCHONDRIAL
|
c1839021
| 25,331 |
omim
|
https://www.omim.org/entry/500005
| 2019-09-22T16:16:55 |
{"mesh": ["C564024"], "omim": ["500005"]}
|
In medicine, the Sister Mary Joseph nodule or more commonly node, also called Sister Mary Joseph sign, refers to a palpable nodule bulging into the umbilicus as a result of metastasis of a malignant cancer in the pelvis or abdomen.[1] Sister Mary Joseph nodules can be painful to palpation.[2]
A periumbilical mass is not always a Sister Mary Joseph nodule. Other conditions that can cause a palpable periumbilical mass include umbilical hernia, infection, and endometriosis. Medical imaging, such as abdominal ultrasound, may be used to distinguish a Sister Mary Joseph nodule from another kind of mass.[2]
Gastrointestinal malignancies account for about half of underlying sources (most commonly gastric cancer, colonic cancer or pancreatic cancer, mostly of the tail and body of the pancreas[3]), and men are even more likely to have an underlying cancer of the gastrointestinal tract. Gynecological cancers account for about 1 in 4 cases (primarily ovarian cancer and also uterine cancer). Nodules will also, rarely, originate from appendix cancer spillage and pseudomyxoma peritonei. Unknown primary tumors and rarely, urinary or respiratory tract malignancies can cause umbilical metastases.[4] How exactly the metastases reach the umbilicus remains largely unknown.[5] Proposed mechanisms for the spread of cancer cells to the umbilicus include direct transperitoneal spread, via the lymphatics which run alongside the obliterated umbilical vein, hematogenous spread, or via remnant structures such as the falciform ligament, median umbilical ligament, or a remnant of the vitelline duct.[6] Sister Mary Joseph nodule is associated with multiple peritoneal metastases and a poor prognosis.[7][6]
## History[edit]
Sister Mary Joseph Dempsey (born Julia Dempsey) was a Catholic nun and surgical assistant of William J. Mayo at St. Mary's Hospital in Rochester, Minnesota from 1890 to 1915.[8][9] She drew Mayo's attention to the phenomenon, and he published an article about it in 1928. The eponymous term Sister Mary Joseph nodule was coined in 1949 by Hamilton Bailey.[10][2]
## See also[edit]
* Virchow's node
## References[edit]
1. ^ Smyth, Elizabeth; Cunningham, David. "Pancreatic cancer". Harrison's Principles of Internal Medicine (19th ed.).
2. ^ a b c Debardeleben, J.; Cohen, M.; Rodgers, S. K. (2017). "Peritoneal Carcinomatosis Presenting as a Sister Mary Joseph Nodule". Ultrasound Quarterly. 33 (4): 300–302. doi:10.1097/RUQ.0000000000000314. PMID 29112635.
3. ^ Yendluri V, Centeno B, Springett G. Pancreatic cancer presenting as a Sister Mary Joseph's nodule: case report and update of the literature. Pancreas. 2007;34(1):161-4. PMID 17198200
4. ^ Galvañ VG. Sister Mary Joseph's nodule. Ann Intern Med. 1998; 128(5):410. PMID 9490607 Free full text
5. ^ Omura, T (April 2019). "Pancreatic cancer manifesting as Sister Mary Joseph nodule during follow up of a patient with type 2 diabetes mellitus: A case report". Geriatr Gerontol Int. 19 (4): 363–64. doi:10.1111/ggi.13602. PMID 30932308. S2CID 89620536.
6. ^ a b Cohen, DC. A Man With an Umbilical Ulcer. Medscape J Med. 2008;10(1):11.
7. ^ Harrison's Principles of Internal Medicine, 16th ed. page 241
8. ^ Dorland, William Alexander Newman (2011). Dorland's Illustrated Medical Dictionary (32 ed.). Elsevier Health Sciences. p. 1722. ISBN 9781416062578.
9. ^ Anderson, Bryan E. (29 March 2012). The Netter Collection of Medical Illustrations. Elsevier Health Sciences. p. 58. ISBN 9781455726646.
10. ^ H. Bailey: Demonstration of physical signs in clinical surgery. 11th edition, Baltimore, Williams & Wilkins, 1949, p 227.
* v
* t
* e
Symptoms and signs relating to the human digestive system or abdomen
Gastrointestinal
tract
* Nausea
* Vomiting
* Heartburn
* Aerophagia
* Pagophagia
* Dysphagia
* oropharyngeal
* esophageal
* Odynophagia
* Bad breath
* Xerostomia
* Hypersalivation
* Burping
* Wet burp
* Goodsall's rule
* Chilaiditi syndrome
* Dance's sign
* Aaron's sign
* Arapov's sign
* Markle sign
* McBurney's point
* Sherren's triangle
* Radiologic signs: Hampton's line
* Klemm's sign
Accessory
* liver: Councilman body
* Mallory body
* biliary: Boas' sign
* Courvoisier's law
* Charcot's cholangitis triad/Reynolds' pentad
* cholecystitis (Murphy's sign
* Lépine's sign
* Mirizzi's syndrome)
* Nardi test
Defecation
* Flatulence
* Fecal incontinence
* Encopresis
* Fecal occult blood
* Rectal tenesmus
* Constipation
* Obstructed defecation
* Diarrhea
* Rectal discharge
* Psoas sign
* Obturator sign
* Rovsing's sign
* Hamburger sign
* Heel tap sign
* Aure-Rozanova's sign
* Dunphy sign
* Alder's sign
* Lockwood's sign
* Rosenstein's sign
Abdomen
Pain
* Abdominal pain
* Acute abdomen
* Colic
* Baby colic
* Abdominal guarding
* Blumberg sign
Distension
* Abdominal distension
* Bloating
* Ascites
* Tympanites
* Shifting dullness
* Ascites
* Fluid wave test
Masses
* Abdominal mass
* Hepatosplenomegaly
* Hepatomegaly
* Splenomegaly
Other
* Jaundice
* Mallet-Guy sign
* Puddle sign
* Ballance's sign
* Aortic insufficiency
* Castell's sign
* Kehr's sign
* Cullen's sign
* Grey Turner's sign
Hernia
* Howship–Romberg sign
* Hannington-Kiff sign
Other
* Cupola sign
* Fothergill's sign
* Carnett's sign
* Sister Mary Joseph nodule
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Sister Mary Joseph nodule
|
c0878585
| 25,332 |
wikipedia
|
https://en.wikipedia.org/wiki/Sister_Mary_Joseph_nodule
| 2021-01-18T18:42:44 |
{"mesh": ["D058288"], "wikidata": ["Q1093872"]}
|
## Description
Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common degenerative spinal disorder that causes severe neurologic dysfunction in middle-aged and elderly populations. This ectopic ossification results in compression of the spinal cord and nerve root by the ossified ligament. Histologic studies of OPLL suggest that OPLL develops through a process of endochondral ossification (summary by Nakajima et al., 2016).
Clinical Features
OPLL can cause spinal-cord compression (Ono et al., 1977; Tsuyama, 1984). Patients with OPLL frequently present with a severe myelopathy that can lead to tetraparesis. X-ray examination detects OPLL in 0.7 to 2.0% of adult outpatients with cervical disorders (Firooznia et al., 1982); the observed incidence increases to 3.7% in patients over 50 years of age (Ohtsuka et al., 1987).
From a study of 55 Chinese patients with OPLL, Chen et al. (2016) noted that although the continuous and segmental subtypes had previously been found to be predominant, radiologic analysis in this cohort revealed the most predominant subtype to be local OPLL, present in 23 patients (41.8%), whereas the continuous subtype was present in only 5 (9.1%). In addition, the mixed subtype was present in 15 patients (25.5%) and the segmental subtype in 13 (23.6%).
Inheritance
Familial aggregation of OPLL was observed by Terayama (1989), who identified OPLL in 192 sibs of 636 patients.
Population Genetics
Koga et al. (1998) stated that OPLL is recognized as a common disorder among Japanese and throughout Asia. Estimates of its prevalence are in the range of 1.9 to 4.3%.
Mapping
Based on the finding of a mutation in the Npps gene (ENPP1; 173335) in the ttw mouse (see ANIMAL MODEL) by Okawa et al. (1998), Nakamura et al. (1999) examined genetic variations in the NPPS gene, which maps to chromosome 6q22-q23, in patients with OPLL. A total of 323 OPLL patients were screened by means of PCR/SSCP analysis covering all the exons and their surrounding introns, plus about 1.5 kb of the promoter region. They identified 10 nucleotide variations in the ENPP1 gene; 5 of the alterations caused amino acid substitutions, and 2 of them were found specifically in OPLL patients. Subsequently, Nakamura et al. (1999) performed an association study using these variations and found a significant association of OPLL with 1 allele: a deletion of T at a position 11 nucleotides upstream from the splice acceptor site of intron 20 (IVS20-11delT; 173335.0001). The proportion of individuals having this deletion was significantly higher (p = 0.0029) in OPLL patients than in controls, indicating that those who have this variation may be more susceptible to the abnormal ossification of the spinal ligaments.
Koga et al. (1998) identified a predisposing locus for OPLL on 6p, close to the HLA complex. The evidence for this localization was provided by a genetic linkage study of 91 affected sib pairs in 53 Japanese families. Significant evidence of linkage was found with D6S276, a marker lying close to the HLA complex (p = 0.000006). A candidate gene in this region, COL11A2 (120290), located at 6p21.3, was analyzed for the presence of molecular variants in affected probands. Of 19 distinct variants identified, 4 showed strong statistical associations with OPLL.
Among Japanese, in whom OPLL is a leading cause of myelopathy, causing ectopic bone formation in the paravertebral ligament, Maeda et al. (2001) found a male-specific association of a COL11A2 haplotype with OPLL.
Tanaka et al. (2003) performed a genomewide linkage study of 142 affected sib pairs to identify genetic loci related to OPLL. The best evidence of linkage was detected near marker D21S1903 on 21q22.3; the linkage region was therefore extensively investigated for linkage disequilibrium with SNPs covering 20 Mb. Haplotype analysis with 3 SNPs in the COL6A1 gene (120220) gave a single-point p value of 0.0000007.
In a case-control study of 711 Japanese individuals with OPLL and 896 controls, Horikoshi et al. (2006) found an association between an intronic SNP (rs2268624) in the TGFB3 gene (190230), which maps to chromosome 14q24, and OPLL. Previously reported associations of COL11A2, ENPP1, and TGFB1 (190180) with OPLL were not reproduced.
Nakajima et al. (2014) performed a genomewide association study in 1,130 Japanese patients with OPLL and 7,135 controls, followed by a replication study involving an independent set of 548 Japanese patients with OPLL and 6,469 controls. They identified 6 susceptibility loci for OPLL: 20p12.3 (rs2423294; p = 1.10 x 10(-13)); 8q23.1 (rs374810; p = 1.88 x 10(-13)); 12p11.22 (rs1979679; p = 4.34 x 10(-12)); 12p12.2 (rs11045000; p = 2.95 x 10(-11)); 8q23.3 (rs13279799; p = 1.28 x 10(-10)); and 6p21.1 (rs927485; p = 9.40 x 10(-9)).
Molecular Genetics
### Associations Pending Confirmation
In 55 Chinese patients with OPLL, Chen et al. (2016) performed targeted exome sequencing of 11 OPLL-associated genes and identified potentially pathogenic missense variants in 4 genes, including 3 in COL6A1, 2 in COL11A2, 2 in FGFR1 (136350), and 1 in BMP2 (112261).
Nakajima et al. (2016) studied the most significant OPLL-associated SNP at chromosome 8q23.1, rs374810, located in an apparent promoter region 116 bp upstream of the transcription start site of the RSPO2 gene (610575). Experiments in ATDC5 cells, a model for endochondral ossification, demonstrated that RSPO2 regulates early chondrocyte differentiation through canonical Wnt signaling. Analysis of cultured fibroblast mRNA from 61 normal controls showed that individuals carrying the risk allele 'C' (TC and CC genotypes) had significantly lower RSPO2 expression than those with a TT genotype. Nakajima et al. (2016) concluded that RSPO2 is a susceptibility gene for OPLL.
Animal Model
Twy ('tiptoe' walking Yoshimura) mouse is a naturally occurring mutant that exhibits ossification of the spinal ligaments similar to OPLL (Yamazaki et al., 1991). The trait is inherited as an autosomal recessive with almost complete penetrance. Ossification of the spinal ligaments occurs spontaneously at about 6 weeks of age and progresses relentlessly, resulting in severe motor paresis of limbs. The changes in the spinal ligaments closely resemble those of human OPLL. In the study of F2 progeny, Okawa et al. (1998) observed that heterotopic ossification occurs not only in the spinal ligaments but also in the joint capsules, tendon enthesis, chondral tissues, and peripheral ligaments. Okawa et al. (1998) mapped the twy gene within an interval of approximately 2.6 cM in the proximal portion of mouse chromosome 10, by a genome screen using microsatellite markers.
To elucidate the genetic basis of OPLL, studies were undertaken of the ttw ('tiptoe walking'; previously designated twy) mouse, a naturally occurring mutant that exhibits ossification of the spinal ligaments very similar to human OPLL. Using a positional candidate-gene approach, Okawa et al. (1998) determined that the ttw phenotype is caused by a nonsense mutation (gly568 to ter) in the Npps gene which encodes nucleotide pyrophosphatase (NPPS, or ENPP1; 173335). This enzyme regulates soft-tissue calcification and bone mineralization by producing inorganic pyrophosphate, a major inhibitor of calcification. The accelerated bone formation characteristic of ttw mice was thought to result from dysfunction of Npps caused by predicted truncation of the gene product, resulting in the loss of more than one-third of the native protein. The results provided novel insights into the mechanism of ectopic ossification and the etiology of human OPLL.
INHERITANCE \- Autosomal recessive SKELETAL \- Increased bone mineral density Spine \- Ectopic ossification of posterior longitudinal spinal ligament (cervical and thoracic spine) NEUROLOGIC Central Nervous System \- Spinal cord compression \- Myelopathy \- Hyperreflexia MISCELLANEOUS \- Common in Japan and other Asian populations \- Four types of OPLL - segmental (39%), continuous (27%), mixed (29%), other (5%) \- High incidence of diabetes mellitus noted in OPLL patients ▲ 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
|
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE
|
c1865343
| 25,333 |
omim
|
https://www.omim.org/entry/602475
| 2019-09-22T16:13:41 |
{"mesh": ["C537143"], "omim": ["602475"]}
|
## Description
Gastroesophageal reflux (GER) is characterized by the retrograde movement of stomach contents into the esophagus. In its most severe form, GER results in extensive tissue damage caused by acid reflux. In adolescents and adults, and even infrequently in children, chronic GER is associated with the risk of developing Barrett metaplasia (614266), a premalignant lesion of the esophageal mucosa (Hu et al., 2000). In turn, Barrett metaplasia is correlated with the development of adenocarcinoma of the esophagus (see 614266), estimated as the fifth most prevalent neoplasia in the Western world (Lagergren et al., 1999).
Mapping
To identify a genetic locus that cosegregates with a severe pediatric GER phenotype in families with multiple affected members, Hu et al. (2000) performed a genomewide scan using microsatellite markers spaced at an average interval of 8 cM. They studied affected and unaffected family members from 5 families having multiple affected members; in these families severe pediatric GER followed an autosomal dominant hereditary pattern with high penetrance. They mapped a locus for severe pediatric GER to a 13-cM region on chromosome 13q14 between microsatellite markers D13S171 and D13S263. A maximum multifamily 2-point lod score of 5.58 and a maximum multifamily multipoint lod score of 7.15 were obtained from D13S1253 at map position 35 cM when presumptively affected persons were modeled as unknown. A maximum multipoint score of 4.88 was obtained when presumptively affected persons were modeled as unaffected.
Hu et al. (2000) refined the localization of the GER locus to a 9-cM interval between D13S263 and CAGR1, thereby excluding HTR2A (182135) as a candidate gene.
Hu et al. (2004) refined the mapping of the so-called pediatric gastroesophageal reflux locus on 13q14 to within 20 kb of SNP160 or SNP168.
Oncology \- Adenocarcinoma of the esophagus risk about 10% Lab \- Columnar epithelium-lined distal esophagus GI \- Chronic ulcerating esophagitis \- Gastroesophageal reflux 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
|
GASTROESOPHAGEAL REFLUX
|
c0017168
| 25,334 |
omim
|
https://www.omim.org/entry/109350
| 2019-09-22T16:44:29 |
{"doid": ["8534"], "mesh": ["D005764"], "omim": ["109350"], "icd-9": ["530.81"], "icd-10": ["K21", "K21.9"], "synonyms": ["Alternative titles", "GASTROESOPHAGEAL REFLUX DISEASE", "GASTROESOPHAGEAL REFLUX, PEDIATRIC"]}
|
For a discussion of autoimmunity, see 109100. See also vitiligo (606579).
Mapping
Alkhateeb et al. (2002) estimated that, in 23% of cases, vitiligo is associated with other autoimmune disorders, particularly autoimmune thyroid disease, pernicious anemia (170900), systemic lupus erythematosus (152700), and Addison disease (240200); Spritz et al. (2004) pointed to association with adult-onset insulin-dependent diabetes mellitus (IDDM; 222100). Linkage studies have identified a susceptibility locus for autoimmune disease including vitiligo on 1p (AIS1; 607836), on chromosome 7 (AIS2; 608391), and on chromosome 17 (SLEV1; 606579). In an extended study with a cohort of 102 multiplex families with vitiligo, Spritz et al. (2004) identified a locus of susceptibility to autoimmune disease including vitiligo on chromosome 8 and designated it AIS3.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3
|
c1842112
| 25,335 |
omim
|
https://www.omim.org/entry/608392
| 2019-09-22T16:07:53 |
{"omim": ["608392"], "synonyms": ["Alternative titles", "VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 4", "AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 8-RELATED"]}
|
A primary bone dysplasia with micromelia characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.
## Epidemiology
Hypochondroplasia estimated incidence is 1/50,000. The exact prevalence is unknown.
## Clinical description
Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly. Radiologic features include shortening of long bones with mild metaphyseal flare; narrowing of the inferior lumbar interpedicular distances; short, broad femoral neck; and squared, shortened ilia. The skeletal features are very similar to those seen in achondroplasia but tend to be milder. Medical complications common to achondroplasia (e.g., spinal stenosis, tibial bowing, obstructive apnea) occur less frequently in hypochondroplasia. Children usually present as toddlers or school-age children with decreased growth velocity leading to short stature and limb disproportion. However, some more severe cases are detected prenatally, at birth or in early infancy. Other features also become more prominent over time.
## Etiology
The disorder is caused by mutations in the fibroblast growth factor receptor-3 gene (FGFR3; 4p16.3).
## Diagnostic methods
Hypochondroplasia is diagnosed by the recognition of characteristic clinical and radiologic findings that remain controversial. DNA-based testing is possible and about 70% of affected individuals are heterozygous for a pathogenic variant in FGFR3. The most frequent variant is NM_000142.4:c.1620C>A; p.Asn540Lys (p.N540K), which accounts for approximately 60% of affected individuals.
## Differential diagnosis
Hypochondroplasia closely resembles achondroplasia (also caused by variants in the FGFR3 gene). Differential diagnosis also includes mild forms of mesomelic dwarfism, mild forms of spondyloepiphyseal-metaphyseal dysplasias, Leri-Weill dyschondrosteosis, Pseudohypoparathyroidism and pseudopseudohypoparathyroidism.
## Genetic counseling
The disorder is transmitted in an autosomal dominant manner. Genetic counseling should be proposed to individuals having the disease-causing variant informing them that there is 50% risk of passing the variant to offspring.
## Management and treatment
Management of short stature in hypochondroplasia is influenced by parental expectations and concerns; one approach is to address these concerns rather than trying to treat the child. Laminectomy relieves symptoms of spinal stenosis; about 70% of individuals experience relief of symptoms following decompression without laminectomy. Developmental milestones are followed closely during early childhood so that cognitive impairments are addressed with special educational programs. Epilepsy is treated in the standard fashion.
## Prognosis
Final adult height varies between 132 and 147 cm and life expectancy is normal.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Hypochondroplasia
|
c0410529
| 25,336 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=429
| 2021-01-23T17:14:38 |
{"gard": ["6724"], "mesh": ["C562937"], "omim": ["146000"], "umls": ["C0410529"], "icd-10": ["Q77.4"]}
|
Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Late-onset retinal degeneration
|
c1854065
| 25,337 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=67042
| 2021-01-23T18:15:14 |
{"gard": ["4357"], "mesh": ["C565309"], "omim": ["605670"], "umls": ["C1854065"], "synonyms": ["Autosomal dominant late-onset retinal degeneration", "LORD"]}
|
Part of a series on
Discrimination
General forms
* Age
* Class (Caste)
* Physical Disability
* Education
* Economic
* Employment
* Genetics
* Hair texture
* Height
* Housing
* Language
* Looks
* Race / Ethnicity / Nationality
* Rank
* Religion
* Sanity
* Sex
* Sexual orientation
* Size
* Skin color
Specific forms
Social
* Acephobia
* Adultism
* Amatonormativity
* Anti-albinism
* Anti-autism
* Anti-homelessness
* Anti-intellectualism
* Anti-intersex
* Anti-left handedness
* Anti-Masonry
* Antisemitism (Judeophobia)
* Aporophobia
* Audism
* Biphobia
* Clannism
* Cronyism
* Drug use
* Elitism
* Ephebiphobia
* Fatism
* Gerontophobia
* Heteronormativity
* Heterosexism
* HIV/AIDS stigma
* Homophobia
* Leprosy stigma
* Lesbophobia
* Misandry
* Misogyny
* Nepotism
* Pedophobia
* Perpetual foreigner
* Pregnancy
* Reverse
* Sectarianism
* Supremacism
* Black
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* Transphobia
* Non-binary
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Religious
* Ahmadiyya
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* post–Cold War era
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* Persecution
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* Persecution
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* Persecution
* LDS or Mormon
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Ethnic/national
* African
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* Western
Manifestations
* Blood libel
* Bullying
* Compulsory sterilization
* Counter-jihad
* Cultural genocide
* Defamation
* Democide
* Disability hate crime
* Dog-whistle politics
* Eliminationism
* Ethnic cleansing
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* Ethnic hatred
* Ethnic joke
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* Forced conversion
* Freak show
* Gay bashing
* Gendercide
* Genital modification and mutilation
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* examples
* Glass ceiling
* Hate crime
* Hate group
* Hate speech
* online
* Homeless dumping
* Indian rolling
* Lavender scare
* LGBT hate crimes
* Lynching
* Mortgage
* Murder music
* Occupational segregation
* Persecution
* Pogrom
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* Religious persecution
* Religious terrorism
* Religious violence
* Religious war
* Scapegoating
* Segregation academy
* Sex-selective abortion
* Slavery
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* Victimisation
* Violence against women
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Policies
* Age of candidacy
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* Nonpersons
* Numerus clausus (as religious or racial quota)
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* Segregation
* age
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* Sodomy law
* State atheism
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* Voter suppression
Countermeasures
* Affirmative action
* Anti-discrimination law
* Cultural assimilation
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* Diversity training
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* Feminism
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* Hate speech laws by country
* Human rights
* Intersex rights
* LGBT rights
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* Multiculturalism
* Nonviolence
* Racial integration
* Reappropriation
* Self-determination
* Social integration
* Toleration
Related topics
* Allophilia
* Anti-cultural, anti-national, and anti-ethnic terms
* Bias
* Christian privilege
* Civil liberties
* Cultural assimilation
* Dehumanization
* Diversity
* Ethnic penalty
* Eugenics
* Internalized oppression
* Intersectionality
* Male privilege
* Masculism
* Medical model of disability
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* Multiculturalism
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* Oppression
* Police brutality
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* Polyculturalism
* Power distance
* Prejudice
* Prisoner abuse
* Racial bias in criminal news
* Racism by country
* Religious intolerance
* Second-generation gender bias
* Snobbery
* Social exclusion
* Social model of disability
* Social stigma
* Stereotype
* threat
* The talk
* White privilege
* v
* t
* e
Aporophobia (from the Spanish aporofobia, and this from the Ancient Greek ἄπορος (á-poros), without resources, indigent, poor, and φόβος (phobos), fear)[1][2] is fear of poverty and of poor people. It is the disgust and hostility toward poor people, without resources or who are helpless.[3]
The concept of aporophobia was coined in the 1990s[4][5] by the philosopher Adela Cortina, professor of Ethics and Political Philosophy at the University of Valencia,[6] to differentiate this attitude from xenophobia, which only refers to the rejection of foreigners, and racism, which is discrimination by ethnic groups. The difference between aporophobia and xenophobia or racism is that socially there is no discrimination or marginalization of immigrants or members of other ethnic groups when these people have assets, economic resources and/or social and media relevance.[4][7][8]
> The aporophobia consists, therefore, in a feeling of fear and in an attitude of rejection of the poor, the lack of means, the helpless. Such feeling and such attitude are acquired.[4]
## See also[edit]
* Society portal
* Anti-Romanyism
* Economic discrimination
* NIMBY
* Social cleansing
* Slum clearance
* White flight
* Hostile architecture
## References[edit]
1. ^ Fundéu BBVA (18 December 2014). "Aporofobia, neologismo válido". fundeu.es. Retrieved 5 July 2016.
2. ^ Guerrero, Gloria. «Aporofobia, f.», Martes Neológico, Instituto Cervantes. Retrieved 20 September 2016.
3. ^ «El Imán pide a la RAE que acepte el término aporofobia.» La Voz de Galicia. 31 de agosto de 2008. Retrieved 21 December 2014.
4. ^ a b c Martínez Navarro, Emilio. “Aporofobia”, en: Jesús Conill (coord.): Glosario para una sociedad intercultural, Valencia, Bancaja, 2002, pp. 17-23.
5. ^ Cortina, Adela (7 March 2000). "Aporofobia". El País. Retrieved 11 April 2017.
6. ^ Lascuráin, Javier (Fundéu BBVA). «'Aporofobia': la historia de una palabra nacida para cambiar la realidad.» Fundéu BBVA. Retrieved 29 December 2014.
7. ^ Cortina, Adela (1996). Ética. Madrid: Santillana.
8. ^ Pérez Oliva, Milagros (10 May 2017). "Cortina: "Lo que molesta de los inmigrantes es que sean pobres"". El País. Retrieved 21 December 2017.
## Bibliography[edit]
Look up aporophobia in Wiktionary, the free dictionary.
* Cortina, Adela (2017). Aporofobia, el rechazo al pobre. Barcelona: Paidós. (in Spanish).
This article about poverty, or other related issues is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
This sociology-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
|
Aporophobia
|
None
| 25,338 |
wikipedia
|
https://en.wikipedia.org/wiki/Aporophobia
| 2021-01-18T18:59:33 |
{"wikidata": ["Q5701611"]}
|
Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.
## Epidemiology
Reticular dysgenesis accounts for less than 2% of all SCID cases. The annual incidence has been estimated at 1/3,000,000-1/5,000,000. Both males and females are affected, and consanguinity has been noted in several families.
## Clinical description
The disease presents earlier than other forms of SCID, at birth or early in the neonatal period, with signs of sepsis, failure to thrive, diarrhea, fever, recurrent infections including upper respiratory tract infections, oral candidiasis, perianal infections and abscesses, and bilateral sensorineural deafness. Despite recurrent infections, no significant lymphoid or tonsillar tissue is evident. Hemoglobin levels are usually within reference ranges at birth, but patients may develop anemia secondary to sepsis and chronic illness.
## Etiology
Reticular dysgenesis is characterized by profound neutropenia and T and natural killer (NK) cell lymphocytopenia, and is caused by mutations in the AK2 gene (1p34). The resulting deficiency in adenylate kinase 2 causes increased apoptosis of myeloid and lymphoid precursors. However, patients without this mutation have been observed implying an alternative cause. An imbalance of growth factor independent-1 transcription repressor (Gfi-1) and/or Gfi-1b has been proposed.
## Diagnostic methods
Diagnosis is based on evidence of sensorineural deafness in combination with evidence of a marked reduction of T and NK cell counts when compared to age-matched healthy controls. Materno-fetal engraftment is usually present.
## Differential diagnosis
Differential diagnosis includes all other forms of SCID.
## Antenatal diagnosis
Prenatal diagnosis can be performed in families where there is a family history and where the genetic mutation has been identified.
## Genetic counseling
Transmission is autosomal recessive.
## Management and treatment
The only curative treatment for this disease is allogenic hematopoietic stem cell transplantation.
## Prognosis
Without treatment, patients die from septicemia within days 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
|
Reticular dysgenesis
|
c0272167
| 25,339 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=33355
| 2021-01-23T18:54:28 |
{"gard": ["8625"], "mesh": ["C538361"], "omim": ["267500"], "umls": ["C0272167", "C1282908"], "icd-10": ["D81.0"], "synonyms": ["AK2 deficiency", "Congenital aleukocytosis", "De Vaal disease", "Generalized hematopoietic hypoplasia", "SCID with leukopenia", "Severe combined immunodeficiency with leukopenia"]}
|
Necrotizing sialometaplasia
SpecialtyENT surgery
Necrotizing sialometaplasia (NS) is a benign, ulcerative lesion, usually located towards the back of the hard palate. It is thought to be caused by ischemic necrosis (death of tissue due to lack of blood supply) of minor salivary glands in response to trauma. Often painless, the condition is self-limiting and should heal in 6–10 weeks.
Although entirely benign and requiring no treatment, due to its similar appearance to oral cancer, it is sometimes misdiagnosed as malignant. Therefore, it is considered an important condition, despite its rarity.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 Epidemiology
* 7 History
* 8 Notes
* 9 References
* 10 External links
## Signs and symptoms[edit]
The condition most commonly is located at the junction of the hard and soft palate.[1] However, the condition may arise anywhere minor salivary glands are located.[nb 1] It has also been occasionally reported to involve the major salivary glands.[2][3] It may be present only on one side, or both sides.[1] The lesion typically is 1–4 cm in diameter.[4]
Initially, the lesion is a tender, erythematous (red) swelling. Later, in the ulcerated stage, the overlying mucosa breaks down to leave a deep, well-circumscribed ulcer which is yellow-gray in color and has a lobular base.[1]
There is usually only minor pain,[1] and the condition is often entirely painless. There may be prodromal symptoms similar to flu before the appearance of the lesion.[4]
## Causes[edit]
The exact cause of the condition is unknown.[4][5] There is most evidence to support vascular infarction and ischemic necrosis of salivary gland lobules as a mechanism for the condition.[6] Experimentally, local anaesthetic injections and tying of the arteries is reported to trigger the development of tissue changes similar to NS in lab rats.[6] Factors which are thought to cause this ischemia are listed below, however sometimes there is no evident predisposing factor or initiating event.[6]
* Trauma[4] e.g. during intubation,[6] or surgical procedures[6]
* Local anesthetic injection[4]
* Smoking[4]
* Alcohol[6]
* Diabetes mellitus[4]
* Vascular disease,[4] (e.g. arteriosclerosis)[5]
* Pressure from a dental prosthesis[4]
* Allergy[5]
* Bulimia[2]
* Infection[6]
* Ionizing radiation[6]
## Diagnosis[edit]
Differentiation between this and SCC would be based on a history of recent trauma or dental treatment in the area.
Immunohistochemistry may aid the diagnosis. If the lesion is NS, there will be focal to absent immunoreactivity for p53, low immunoreactivity for MIB1 (Ki-67), and the presence of 4A4/p63\- and calponin-positive myoepithelial cells.[2]
## Treatment[edit]
No surgery is required.[4]
## Prognosis[edit]
Healing is prolonged, and usually takes 6–10 weeks.[1] The ulcer heals by secondary intention.[7]
## Epidemiology[edit]
The condition is rare.[8][9] The typical age range of those affected by the condition is about 23–66 years of age.[4] It usually occurs in smokers.[9] The male to female ratio has been reported as 1.95:1,[5] and 2.31:1.[10]
## History[edit]
NS was first reported by Abrams et al. in 1973.[11][6]
## Notes[edit]
1. ^ Minor salivary glands are found in most mucosal surfaces in the mouth, apart from the front third of the hard palate, the front third of the dorsal surface of the tongue, and the attached gingiva. (see Hupp et al. 2013, p.395)
## References[edit]
1. ^ a b c d e Regezi JA; Scuibba JJ; Jordan RCK (2012). Oral pathology : clinical pathologic correlations (6th ed.). St. Louis, Mo.: Elsevier/Saunders. p. 191. ISBN 978-1-4557-0262-6.
2. ^ a b c Carlson, DL (May 2009). "Necrotizing sialometaplasia: a practical approach to the diagnosis". Archives of Pathology & Laboratory Medicine. 133 (5): 692–8. doi:10.1043/1543-2165-133.5.692. PMID 19415943.
3. ^ Tsuji, T; Nishide, Y; Nakano, H; Kida, K; Satoh, K (2014). "Imaging findings of necrotizing sialometaplasia of the parotid gland: case report and literature review". Dentomaxillofacial Radiology. 43 (6): 20140127. doi:10.1259/dmfr.20140127. PMC 4141672. PMID 24850145.
4. ^ a b c d e f g h i j k Hupp JR; Tucker MR; Ellis E (19 March 2013). Contemporary Oral and Maxillofacial Surgery (6th ed.). Elsevier Health Sciences. pp. 412–414. ISBN 978-0-323-22687-5.
5. ^ a b c d Schmidt-Westhausen, A; Philipsen, HP; Reichart, PA (1991). "[Necrotizing sialometaplasia of the palate. Literature report of 3 new cases]". Deutsche Zeitschrift für Mund-, Kiefer- und Gesichts-Chirurgie. 15 (1): 30–4. PMID 1814663.
6. ^ a b c d e f g h i Barnes L (2008). Surgical pathology of the head and neck (3rd ed.). New York: Informa Healthcare. pp. 491–493. ISBN 9780849390234.
7. ^ Imbery, TA; Edwards, PA (July 1996). "Necrotizing sialometaplasia: literature review and case reports". Journal of the American Dental Association. 127 (7): 1087–92. doi:10.14219/jada.archive.1996.0334. PMID 8754467.
8. ^ Janner, SF; Suter, VG; Altermatt, HJ; Reichart, PA; Bornstein, MM (May 2014). "Bilateral necrotizing sialometaplasia of the hard palate in a patient with bulimia: a case report and review of the literature". Quintessence international (Berlin, Germany : 1985). 45 (5): 431–7. doi:10.3290/j.qi.a31543. PMID 24634907.
9. ^ a b Scully C (2013). Oral and maxillofacial medicine: the basis of diagnosis and treatment (3rd ed.). Edinburgh: Churchill Livingstone. p. 405. ISBN 9780702049484.
10. ^ Jainkittivong, A; Sookasam, M; Philipsen, HP (1989). "Necrotizing sialometaplasia: review of 127 cases". The Journal of the Dental Association of Thailand. 39 (1): 11–6. PMID 2699611.
11. ^ Abrams, AM; Melrose, RJ; Howell, FV (July 1973). "Necrotizing sialometaplasia. A disease simulating malignancy". Cancer. 32 (1): 130–5. doi:10.1002/1097-0142(197307)32:1<130::aid-cncr2820320118>3.0.co;2-8. PMID 4716764.
## External links[edit]
Classification
D
* ICD-10: K11.8
* MeSH: D012797
* DiseasesDB: 31434
External resources
* eMedicine: derm/656
* 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]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Necrotizing sialometaplasia
|
c0037033
| 25,340 |
wikipedia
|
https://en.wikipedia.org/wiki/Necrotizing_sialometaplasia
| 2021-01-18T19:07:50 |
{"mesh": ["D012797"], "umls": ["C0037033"], "wikidata": ["Q6985741"]}
|
Michaelsson and Ros (1971) described a delayed heat urticaria, limited to the area of contact, in a 48-year-old female, 2 of her 3 children, 1 of her 2 sisters, and 4 of the latter's 5 children. Repeated heat exposure showed a decrease in response. Local pretreatment with lidocaine completely inhibited whealing. Oral antihistamines lessened the urticarial response. A higher percentage of basophils were degranulated in vitro in the experimental subject than in the controls. Acetylcholine as an allergen was postulated.
Inheritance \- Autosomal dominant Skin \- Delayed heat urticaria at contact area ▲ 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
|
URTICARIA, FAMILIAL LOCALIZED HEAT
|
c1860551
| 25,341 |
omim
|
https://www.omim.org/entry/191950
| 2019-09-22T16:32:10 |
{"mesh": ["C566011"], "omim": ["191950"]}
|
Chronic diarrhea of infancy
Other namesToddler's diarrhea
SpecialtyPediatrics
Chronic diarrhea (alternate spelling: diarrhoea) of infancy, also called toddler's diarrhea, is a common condition typically affecting up to 1.7 billion children between ages 6–30 months worldwide every year, usually resolving by age 4.[1][2] According to the World Health Organization (WHO), diarrheal disease is the second greatest cause of death in children 5 years and younger. Diarrheal disease takes the lives of 525,000 or more children per year.[2] Diarrhea is characterized as the condition of passing of three or more loose or watery bowel movements within a day sometimes with undigested food visible. Diarrhea is separated into three clinical categories; acute diarrhea may last multiple hours or days, acute bloody diarrhea, also known as dysentery, and finally, chronic or persistent diarrhea which lasts 2–4 weeks or more.[2] There is normal growth with no evidence of malnutrition in the child experiencing persistent diarrhea. In chronic diarrhea there is no evidence of blood in the stool and there is no sign of infection. The condition may be related to irritable bowel syndrome.[1] There are various tests that can be performed to rule out other causes of diarrhea that don't fall under the chronic criteria, including blood test, colonoscopy, and even genetic testing.[3][4] Most acute or severe cases of diarrhea have treatment guidelines revolving around prescription or non prescription (also known as over the counter or OTC) medications based on the cause, but the treatment protocols for chronic diarrhea focus on replenishing the body with lost fluids and electrolytes, because there typically isn't a treatable cause.[5]
## Contents
* 1 Signs and Symptoms
* 1.1 Complications
* 2 Cause
* 3 Diagnosis
* 3.1 Diagnostic Tests
* 3.1.1 Genetic Testing
* 4 Treatment and Management
* 5 Epidemiology
* 6 References
## Signs and Symptoms[edit]
Toddler's diarrhea is characterized by three or more watery stools per day that persist for 2–4 weeks or more.[2][6] Newborns and infants may normally have soft and frequent stools; however, any noticeable changes in stool frequency or form (i.e. watery) can indicate toddler's diarrhea.[7] Other symptoms may include chills, fever, abdominal pain or cramping, nausea, and/or vomiting.[6] Undigested food and/or mucus may also be observed in stools.[8] More serious symptoms may include bloody stools, weight loss, greasy stools, and/or severe abdominal pain.[9]
Aside from these signs and symptoms, infants and children present as healthy individuals with appropriate weight gain (considering sufficient calorie intake), active lifestyles, and normal appetites.[10][11]
### Complications[edit]
Possible complications associated with toddler's diarrhea include malabsorption and dehydration.
Malabsorption affects the small intestine and results in the impaired absorption of important nutrients from an infant or child's diet, leading to malnutrition. Malabsorption is indicated by symptoms of bloating, appetite changes, weight loss, and/or gas.[6]
Dehydration occurs when there is not enough fluid intake to compensate for increased loss of fluid and electrolytes that may result from chronic diarrhea.[7] Dehydration is indicated by symptoms of thirst, absence of tears when crying, infrequent urination, dry mouth, and/or decreased energy.[6]
## Cause[edit]
Diarrhea happens when the amount of fluids absorbed in the intestine does not match the amount secreted. The imbalance can be achieved in two ways: an excess of secretion or a lack of absorption. Thus, diarrhea can be categorized into secretory diarrhea, an excess of secretion, or osmotic diarrhea which is a lack of absorption. Usually both categories are present in chronic diarrhea of infants.[12]
Secretory diarrhea can be caused by either infectious or non-infectious agents. Infectious agents include bacteria, viruses, and protozoans while non-infectious agents can be hormones, neurotransmitters, cytokines, and others. Osmotic diarrhea occurs when nutrients that are not absorbed exists in the intestines, typically due to damage to the intestines. The nutrients that are unable to be absorbed in the intestines draws water to itself.[12]
Some factors that lead to chronic diarrhea of infancy:[9]
* Underdeveloped digestive system, nutrients do not spend adequate time in the digestive tract for water to be absorbed which leads to diarrhea.[9]
* Imbalanced Diet - a diet that has excess fiber and/or a lack of fat, fat can slow down the digestion process and prolong the amount of time nutrients spend in the tract which increases absorption. Fiber can lead to diarrhea because it shortens the amount of time food spends in the intestines, decreasing absorption.[9]
* Inability to absorb carbohydrates
The specific source of chronic diarrhea typically depends on the age of the infant/child. Diarrhea is uncommon for newborns; consequently, its presence in newborns could indicate a congenital disorder which would need hospitalization. Rare causes of chronic diarrhea in young children include a group of genetic mutations known as "congenital diarrhea and enteropathies" (CODEs). This group of genetic disorders usually presents in the first weeks of birth as severe and debilitating diarrhea and can lead to malabsorption, growth failure, and difficulty feeding.[13] CODEs are rare genetic changes to a single gene that affects the lining of the intestine or changes to the immune system that also affects the cell function of important nutrient and electrolyte transporters in the intestine such as Cl−/HCO3− mutation.[13]
Otherwise, socioeconomic factors and access to treatment/healthcare play a significant part in developing chronic diarrhea as an infant. For instance, leading causes of chronic diarrhea in developing countries are infections of the intestine. In developed countries, chronic diarrhea has a diverse range of causes such as chronic infection of the intestines, autoimmune enteropathy, and inability to absorb nutrients via celiac disease, food sensitivities, etc.[12]
From age 0–30 days, typical causes are:[12]
* Abetalipoproteinemia, a condition caused by a genetic mutation that creates abnormal absorption of fats and some vitamins.[14][15]
* Acrodermatitis enteropathica, a condition in which the intestine cannot absorb zinc.[16]
* Autoimmune enteropathy, a rare condition in which the intestines are perceived as a foreign threat by the immune system and are attacked leading to irritation and inflammation.[17][18]
* Microvillous inclusion disease, a condition caused by a genetic mutation leading to severe diarrhea because intestinal cells did not have normal development and thus the intestines are not able to absorb nutrients properly.[19][20]
* Congenital chloride diarrhea, a lifelong condition caused by a genetic mutation that leads to diarrhea with a high concentration of chloride.[21]
* Congenital sodium diarrhea, a genetic disorder caused by mutations in electrolyte transporters that disrupt the transport of Na+ across the intestine and results in high levels of Na+ greater than 145 mM in the stool.[13]
* Congenital short-bowel syndrome, a condition in which a portion of the small intestine is absent or not functioning properly leading to decreased absorption of both fluids and nutrients.[22]
* Congenital lactase deficiency, a condition caused by a genetic mutation in which the body cannot digest lactose properly.[23]
* Glucose-galactose malabsorption, a genetic disorder caused by changes in a protein critical for the transport of glucose and galactose across the intestine which leads to impaired glucose/galactose absorption, dehydration, and severe diarrhea in young children.[13][24] Typically, the severe diarrhea improves with a diet low in glucose/galactose and the tolerability to glucose/galactose improves with age.[13][25]
* Hirschsprung's disease (HSCR), a gut motility disorder characterized by a lack of nerve cells in the large intestine which are needed to move the stool through the digestive tract.[26][27] In infants, HSCR typically presents when a newborn is unable to pass the first feces, or meconium within 48 hours of birth.[26] Other symptoms include blockage of the intestine, fever, rapid release of stool and flatulence upon rectal examination, and may present with diarrhea in infants.[26][27]
* Intestinal pseudo-obstruction (IPO), a gut motility disorder characterized by the inability to contract intestinal walls with symptoms similar to intestinal obstruction but lack a distinguishable cause of obstruction.[28][29] Signs and symptoms include abdominal pain, dilated or enlarged bowel, constipation and may include diarrhea.[28] Although rare in infants, IPO is a type of congenital disorder that may present with diarrhea in infants.[30]
* Primary bile acid malabsorption, a gut defect in the reabsorption of bile acids in the small intestine which results in increased levels of bile acids in the colon leading to watery diarrhea and bloating.[31]
* Chronic infection of C. difficile, G. lamblia
* C. difficile - bacteria that can be the source of diarrhea.[32]
* G. lamblia - a parasite that can be the source diarrhea.[33]
From 1–12 months, typical causes of chronic diarrhea are the following:
* Acrodermatitis enteropathica, a condition in which the intestine cannot absorb zinc.[16]
* Cystic fibrosis, a condition caused by a genetic mutation that can lead to injury to the body's organs including the lungs and those in the digestive system.[34][35]
* Apple juice and pear nectar, the digestive tract of children have difficulty absorbing significant quantities of sugars and carbohydrates which certain fruit juices can have.[9][12]
* Celiac Disease, a disorder in which there is an immune response to eating gluten which can eventually cause damage to the small intestine over time and impedes absorption.[36][37]
* Food allergy.[12]
Most instances of chronic diarrhea in infancy are caused by infectious and post infectious disease of the intestine as well as food sensitivities or allergies.[38]
## Diagnosis[edit]
Diagnosis of toddler's diarrhea involves the evaluation of history of present illness, any relevant past medical history, and physical examination to determine any causative factors to inform treatment regimens and further recommendations.[39]
Evaluation of history of present illness includes:[39]
* Stool characterization (i.e. appearance, consistency, frequency, etc.)
* Time frame and duration (important for differentiation between acute and chronic diarrhea)
* Food/drink allergies or restrictions (e.g. lactose intolerance)
* Medications, especially antibiotics
* Infection exposure (e.g. travel)
Evaluation of past medical history includes:[39]
* Family history
* Conditions such as inflammatory bowel disease, cystic fibrosis, and celiac disease
Physical examination involves:[39]
* Abdominal examination (tenderness, distention, and/or bowel sounds)
* Genital examination (rashes, anal fissures, and/or ulcerative lesions)
* General assessment and vital signs (any signs of dehydration such as tachycardia and low blood pressure)
* Examination of extremities and head (any signs of dehydration such as dry mucous membranes and skin turgor)
### Diagnostic Tests[edit]
The following tests can also be performed to assist in the diagnosis of toddler's diarrhea and evaluation of any associated complications/underlying conditions:[6][4]
* Stool tests provide further information about bleeding, infectious agents, and/or anatomical problems.
* Blood tests allow assessment of inflammatory markers and/or other criterion for causative diseases.
* X-rays provide evaluations of any problems that may originate in the gastrointestinal tract/liver/etc.
* Upper endoscopy or colonoscopy allows visualization of the gastrointestinal tract to assess location of inflammation.
* Breath hydrogen tests are utilized to determine lactose, fructose, and/or sucrose intolerance. Small intestinal bacterial overgrowth (SIBO) may also be indicated by this test.
#### Genetic Testing[edit]
Most commonly, chronic diarrhea in infants and children are classified as acquired diarrhea, identified with the general diagnostic tests mentioned above. The other classification of chronic diarrhea, congenital diarrheas and enteropathies (CODEs), are rare diagnoses of exclusion. With recent advances in genome sequencing, the addition of targeted genetic testing to diagnostic algorithms has been proposed to allow faster diagnoses and earlier treatment of CODEs.[13] While certain genes and mutations have been associated with various CODEs, further research and studies are necessary to support the role of diagnostic genetic testing.[3]
## Treatment and Management[edit]
According to doctors of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), treating the cause of chronic diarrhea in infants is primarily through diet (e.g. avoiding foods their bodies don't tolerate such as gluten, lactose, fructose, and sucrose).[40][41][42] Dietary fiber and fat can be increased and fluid intake, especially fruit juice intake, decreased. With these considerations, NIDDK doctors recommend that children consume a normal balanced diet based on their age to avoid malnutrition or growth restriction.[1][43]
Non-prescription medications such as loperamide are not recommended by the Centers for Disease Control and Prevention for children below 6 years of age as they don't address the underlying cause of the condition.[39][43] According to Benjamin Ortiz, M.D., a pediatrician in the Food and Drug Administration's Office of Pediatric Therapeutics, bismuth subsalicylate is not recommended in children below 12 years of age because its contents, including magnesium, aluminum, and bismuth, are not readily cleared from their bodies, making them more susceptible to harm.[44]
Studies have shown that certain probiotic preparations such as Lactobacillus rhamnosus (a bacterium) and Saccharomyces boulardii (a yeast) may be effective at reducing the duration and severity of diarrhea in acute settings as a result of gastroenteritis, while other studies have found that the use of probiotics doesn't have an effect on the length of diarrhea in toddlers.[45][46][47]
While treatments for chronic diarrhea of infancy aren't clear cut, it is crucial to address the complications of dehydration that may arise from chronic diarrhea with the American Academy of Pediatrics (AAP) guidelines recommendation of oral rehydration therapy (ORT).[5] Oral rehydration solution (ORS), recommended by both AAP and the World Health Organization (WHO), must be composed of 50-90mEq/L sodium and 2% glucose or other complex carbohydrates.[39] ORS is easily found in the US because it is available without a prescription. The typical amount of ORS administered is 50mL/kg over a 4 hour time period for mild dehydration and 100mL/kg over a 4 hour time period for moderate dehydration with an extra 10mL/kg for every loose stool. Repeat this administration regimen for as long as the signs and symptoms of dehydration continue.[48] It is important to take measures early on to maintain hydration. Along with ORT, WHO recommends a 10-14 day course of 20 mg zinc tablet supplementation, stating it will shorten the length of diarrhea and potentially improving harmful outcomes.[2]
The NIDDK recommends a visit to the doctor when a child experiences stools containing pus or blood (black, tarry, or coffee ground-like appearance), signs of dehydration, diarrhea longer that 24 hours, or a fever of 102 degrees or more.[44]
## Epidemiology[edit]
Diarrheal illness in children accounts for 1.5 to 2.5 million deaths per year worldwide.[39] It is responsible for the secondary cause of mortality among children less than 5 years of age surpassing the combined childhood deaths from malaria, measles, and AIDS.[49][50] In 2009, the World Health Organization (WHO)/United Nations International Children's Emergency Fund (UNICEF) reported 2.5 billion cases of diarrhea in children less than 5 years old.[49] More than half of the cases occurred in Africa and South Asia. It is estimated that Africa and South Asia comprise more than 80% of deaths from diarrhea in children.[49] In fact, about 75% of the childhood deaths from diarrhea come from only 15 countries.[49] According to the World Health Organization (WHO), the proportion of deaths attributable to diarrheal illness among children less than 5 years of age was 13.2% in 2002.[51] Half of these childhood deaths were due to chronic diarrheal causes.
Worldwide, studies estimate that diarrheal illness affects 3 to 20% of children under the age of 5 with an incidence of 2.7 episodes of diarrhea per child-year.[52][53] Developing nations experience higher burden of disease and mortality from chronic diarrhea in children compared to developed nations.[49] In the United States, it is reported that 15 to 20% of young children have an episode of acute diarrhea each year. Compared to worldwide estimates, the United States has a lower incidence rate of chronic diarrhea in young children reported at 0.18 episodes per child year.[54] In pediatrics, diarrhea is a common complaint making up 9% of U.S. hospital visits for children less than 5 years old.[39] In contrast to resource-poor nations, resource-rich nations such as the United States experience less chronic diarrhea severity. In the United States, approximately a quarter of chronic diarrhea cases in young children seek medical care and less than 1% of cases are hospitalized.[54][55]
## References[edit]
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2. ^ a b c d e "Diarrhoeal Disease". 2017. Retrieved 2020-08-02.
3. ^ a b Canani RB, Castaldo G, Bacchetta R, Martín MG, Goulet O (May 2015). "Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies". Nature Reviews. Gastroenterology & Hepatology. 12 (5): 293–302. doi:10.1038/nrgastro.2015.44. PMC 7599016. PMID 25782092. S2CID 205488551.
4. ^ a b "Diarrhea in Children". American College of Gastroenterology. 2012. Retrieved 2020-07-31.
5. ^ a b "Oral Rehydration Therapy for Diarrhea: An Example of Reverse Transfer of Technology". 1997. Retrieved 2020-08-01.
6. ^ a b c d e "Symptoms & Causes of Chronic Diarrhea in Children | NIDDK". National Institute of Diabetes and Digestive and Kidney Diseases. 2017. Retrieved 2020-07-30.
7. ^ a b "Diarrhea in infants: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 2020-07-28.
8. ^ "Persistent Diarrhea & Malabsorption". www.nationwidechildrens.org. Retrieved 2020-08-02.
9. ^ a b c d e "Toddler's Diarrhea | Riley Children's Health". www.rileychildrens.org. Retrieved 2020-08-02.
10. ^ "Toddler's Diarrhea" (PDF). 2010. Retrieved 2020-08-02.
11. ^ "Toddler's Diarrhea | Pediatrics Clerkship | The University of Chicago". pedclerk.bsd.uchicago.edu. Retrieved 2020-08-02.
12. ^ a b c d e f Pezzella V, De Martino L, Passariello A, Cosenza L, Terrin G, Berni Canani R (November 2013). "Investigation of chronic diarrhoea in infancy". Early Human Development. Selected Proceedings of Neonatal Update 2013. 89 (11): 893–7. doi:10.1016/j.earlhumdev.2013.08.007. PMID 24021917.
13. ^ a b c d e f Thiagarajah JR, Kamin DS, Acra S, Goldsmith JD, Roland JT, Lencer WI, et al. (June 2018). "Advances in Evaluation of Chronic Diarrhea in Infants". Gastroenterology. 154 (8): 2045–2059.e6. doi:10.1053/j.gastro.2018.03.067. PMC 6044208. PMID 29654747.
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15. ^ Reference, Genetics Home. "Abetalipoproteinemia". Genetics Home Reference. Retrieved 2020-08-02.
16. ^ a b "Acrodermatitis enteropathica | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2020-08-02.
17. ^ "Autoimmune Enteropathy | Nicklaus Children's Hospital". www.nicklauschildrens.org. Retrieved 2020-08-02.
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19. ^ "Microvillus Inclusion Disease | Boston Children's Hospital". www.childrenshospital.org. Retrieved 2020-08-02.
20. ^ Reference, Genetics Home. "Microvillus inclusion disease". Genetics Home Reference. Retrieved 2020-08-02.
21. ^ "Congenital chloride diarrhea | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2020-08-03.
22. ^ "Short Bowel Syndrome In Children". Cleveland Clinic. Retrieved 2020-08-03.
23. ^ Reference, Genetics Home. "Lactose intolerance". Genetics Home Reference. Retrieved 2020-08-03.
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26. ^ a b c "Hirschsprung's disease | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2020-08-04.
27. ^ a b Cher J, Wu C, Adams S (2019). "Hirschsprung-Associated Enterocolitis". Gastrointestinal Diseases and their Associated Infections. Elsevier. pp. 237–247. doi:10.1016/b978-0-323-54843-4.00017-9. ISBN 978-0-323-54843-4.
28. ^ a b "Intestinal pseudo-obstruction". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Retrieved 2020-08-04.
29. ^ Mok CC (January 2016). "Gastrointestinal, hepatic, and pancreatic disorders in systemic lupus erythematosus.". Systemic Lupus Erythematosus. Academic Press. pp. 391–401. doi:10.1016/b978-0-12-801917-7.00044-9. ISBN 978-0-12-801917-7.Mok, Chi Chiu (2016), "Gastrointestinal, Hepatic, and Pancreatic Disorders in Systemic Lupus Erythematosus", Systemic Lupus Erythematosus, Elsevier, pp. 391–401
30. ^ Gosemann JH, Puri P (October 2011). "Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome". Pediatric Surgery International. 27 (10): 1041–6. doi:10.1007/s00383-011-2954-9. PMID 21792650. S2CID 27499683.
31. ^ Wilcox C, Turner J, Green J (May 2014). "Systematic review: the management of chronic diarrhoea due to bile acid malabsorption". Alimentary Pharmacology & Therapeutics. 39 (9): 923–39. doi:10.1111/apt.12684. PMID 24602022. S2CID 12016216.
32. ^ CDC (2020-03-27). "Could you have deadly diarrhea (C. diff)?". Centers for Disease Control and Prevention. Retrieved 2020-08-03.
33. ^ "Giardia | Parasites | CDC". www.cdc.gov. 2019-06-24. Retrieved 2020-08-03.
34. ^ "Cystic fibrosis - Symptoms and causes". Mayo Clinic. Retrieved 2020-08-02.
35. ^ Reference, Genetics Home. "Cystic fibrosis". Genetics Home Reference. Retrieved 2020-08-02.
36. ^ "Celiac disease - Symptoms and causes". Mayo Clinic. Retrieved 2020-08-02.
37. ^ "Celiac Disease | NIDDK". National Institute of Diabetes and Digestive and Kidney Diseases. Retrieved 2020-08-02.
38. ^ Sherman PM, Mitchell DJ, Cutz E (January 2004). "Neonatal enteropathies: defining the causes of protracted diarrhea of infancy". Journal of Pediatric Gastroenterology and Nutrition. 38 (1): 16–26. doi:10.1097/00005176-200401000-00007. PMID 14676590. S2CID 28752178.
39. ^ a b c d e f g h "Diarrhea in Children - Pediatrics". Merck Manuals Professional Edition. 2020. Retrieved 2020-07-27.
40. ^ "Perspectives in Clinical Gastroenterology and Hepatology". 2017. Retrieved 2020-07-30.
41. ^ "Treatment for Chronic Diarrhea in Children". 2017. Retrieved 2020-07-30.
42. ^ "Celiac Disease". 2016. Retrieved 2020-07-31.
43. ^ a b "Gastroenteritis-Gastrointestinal Disorders". 2020. Retrieved 2020-07-20.
44. ^ a b "How to Treat Diarrhea in Infants and Young Children". 2011. Retrieved 2011-07-28.
45. ^ Guarino A, Lo Vecchio A, Canani RB (January 2009). "Probiotics as prevention and treatment for diarrhea". Current Opinion in Gastroenterology. 25 (1): 18–23. doi:10.1097/MOG.0b013e32831b4455. PMID 19114770. S2CID 24139117.
46. ^ Roggero P, Volpe C, Ceccatelli MP, Lambri A, Giuliani MG, Donattini T, et al. (April 1990). "[Crystalline lactulose and oral preparations of micro-organisms for the treatment of chronic aspecific diarrhea in children. A controlled clinical study]". Minerva Pediatrica. 42 (4): 147–50. PMID 2115970.
47. ^ "Probiotics Not Helpful for Young Children with Diarrhea". 2018. Retrieved 2020-08-01.
48. ^ "Diarrhea in Children". 2020. Retrieved 2020-07-31.
49. ^ a b c d e UNICEF. World Health Organization. (2009). Diarrhoea : why children are still dying and what can be done. UNICEF, World Health Organization. ISBN 978-92-806-4462-3. OCLC 779899584.
50. ^ "Diarrhoeal disease". www.who.int. Retrieved 2020-07-31.
51. ^ Abba K, Sinfield R, Hart CA, Garner P (June 2009). "Pathogens associated with persistent diarrhoea in children in low and middle income countries: systematic review". BMC Infectious Diseases. 9 (1): 88. doi:10.1186/1471-2334-9-88. PMC 2709113. PMID 19515227.
52. ^ Walker CL, Rudan I, Liu L, Nair H, Theodoratou E, Bhutta ZA, et al. (April 2013). "Global burden of childhood pneumonia and diarrhoea". Lancet. 381 (9875): 1405–1416. doi:10.1016/S0140-6736(13)60222-6. PMC 7159282. PMID 23582727.
53. ^ Kosek M, Bern C, Guerrant RL (2003). "The global burden of diarrhoeal disease, as estimated from studies published between 1992 and 2000". Bulletin of the World Health Organization. 81 (3): 197–204. PMC 2572419. PMID 12764516.
54. ^ a b Vernacchio L, Vezina RM, Mitchell AA, Lesko SM, Plaut AG, Acheson DW (July 2006). "Characteristics of persistent diarrhea in a community-based cohort of young US children". Journal of Pediatric Gastroenterology and Nutrition. 43 (1): 52–8. doi:10.1097/01.mpg.0000228094.74207.39. PMID 16819377. S2CID 23752489.
55. ^ Malek MA, Curns AT, Holman RC, Fischer TK, Bresee JS, Glass RI, et al. (June 2006). "Diarrhea- and rotavirus-associated hospitalizations among children less than 5 years of age: United States, 1997 and 2000". Pediatrics. 117 (6): 1887–92. doi:10.1542/peds.2005-2351. PMID 16740827. S2CID 43726240.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Chronic diarrhea of infancy
|
c0473132
| 25,342 |
wikipedia
|
https://en.wikipedia.org/wiki/Chronic_diarrhea_of_infancy
| 2021-01-18T19:04:50 |
{"mesh": ["D003968"], "umls": ["C0473132"], "wikidata": ["Q5113970"]}
|
Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the cardiovascular, gastrointestinal, respiratory and central nervous systems. Cleft lip and palate have been reported in rare cases.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Diprosopus
|
c0266731
| 25,343 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1681
| 2021-01-23T18:31:26 |
{"gard": ["1876"], "synonyms": ["Craniofacial duplication", "Diprosopia"]}
|
Gonzalez-del Angel et al. (1992) described a girl and her mother with delayed intramembranous ossification of the cranial vault. The 11-month-old daughter had a large ossification defect involving parietal bones, squamous portion of temporal bones, and interparietal region of the occipital bone, while the mother showed a completely ossified cranial vault with flat posterior parietal region and prominent occiput. The 2 had a similar face characterized by frontal bossing, hypertelorism, downward slant of palpebral fissures, flat nasal bridge, and short midface. The mother had had a soft skull vault during infancy which progressively became hard without treatment. Her facial appearance at age 1 year was similar to that of her child. Radiographs of the skull showed more evident sagittal and lambdoid sutures than expected for a 31-year-old person. No other skeletal abnormalities were found. Gonzalez-del Angel et al. (1992) concluded that this disorder is distinct from the cranium bifidum/parietal foramina entity (168500).
Cargile et al. (2000) reported a second family with delayed membranous cranial ossification, segregating in this instance with an apparently balanced reciprocal translocation between chromosomes 2 and 3. The propositus had low-set ears, proptosis, and a soft skull at birth. A radiographic survey of the skeleton showed markedly decreased ossification of the cranial bones and no other skeletal abnormalities. The mother and maternal grandmother had brachycephaly, hypertelorism, and a history of a soft skull at birth. All 3 had the translocation t(2;3)(p15;q12). Two phenotypically normal sibs of the mother had a normal karyotype.
INHERITANCE \- Autosomal dominant HEAD & NECK Head \- Frontal bossing Face \- Short midface \- Tall forehead Ears \- Low-set ears Eyes \- Hypertelorism \- Downslanting palpebral fissures Nose \- Flat nasal bridge SKELETAL Skull \- Prominent frontal bones \- Lack of ossification in the superior portion of the frontal, parietal, and occipital bones NEUROLOGIC Central Nervous System \- Normal development LABORATORY ABNORMALITIES \- Translocation (2,3)(p15,q12) (in one family) MISCELLANEOUS \- Ossification occurs spontaneously during childhood \- Two mother and child pairs have been reported (last curated July 2015) ▲ 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
|
MEMBRANOUS CRANIAL OSSIFICATION, DELAYED
|
c1835030
| 25,344 |
omim
|
https://www.omim.org/entry/155980
| 2019-09-22T16:38:30 |
{"mesh": ["C563592"], "omim": ["155980"], "orphanet": ["3034"]}
|
A number sign (#) is used with this entry because of evidence that X-linked spinocerebellar ataxia-1 (SCAX1) is caused by mutation in the ATP2B3 gene (300014) on chromosome Xq28. One such family has been reported.
Description
SCAX1 is an X-linked recessive neurologic disorder characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia (summary by Bertini et al., 2000).
### Genetic Heterogeneity of X-linked Spinocerebellar Ataxia
X-linked recessive spinocerebellar ataxia (SCAX) is a clinically and genetically heterogeneous disorder. See also SCAX2 (302600), SCAX3 (301790), SCAX4 (301840), and SCAX5 (300703).
Clinical Features
Shokeir (1970) described 3 kindreds in which a total of 16 affected individuals had cerebellar ataxia transmitted in an X-linked recessive pattern of inheritance. In 1 family, onset of lower limb weakness, unsteady gait, and incoordination occurred between 16 and 20 years of age, followed by dysarthria and nystagmus. The disorder was rapidly progressive until about age 30 years and later became stable. The proband, a 62-year-old man, also had lower limb spasticity with extensor plantar responses. There were no skeletal deformities or sensory deficits. Affected males in the second family were born of a father-daughter union, although a maternal uncle and great-uncle were reportedly affected. The proband in this family had onset at age 18 of progressive incoordination, dysarthria, dysmetria, nystagmus, tremor, and mild spasticity. The third family had a similar onset and disease course; 1 of the affected persons in this family was a female with the XO Turner syndrome, consistent with X-linked recessive inheritance. The disease did not seem to affect life span, and intelligence was unimpaired.
The propositus of the family studied by Bertini et al. (2000) was first evaluated at age 1 year for delayed motor development. Hypotonia, mild dysphagia, and delayed motor development were noted from birth. At the age of 4 years, he showed action tremor of the upper limbs and slow eye movements, but no pyramidal signs. Brain MRI at age 2 years was normal, but at age 3 years showed global atrophy of the cerebellum. A maternal uncle had had a similar course since birth and had been similarly delayed in achieving psychomotor skills. When examined at age 36 years, he showed moderate dysarthria, unsteady gait with truncal and locomotor ataxia, intention tremor, and limitation of vertical gaze with slow conjugate eye movements. Brain MRI showed severe global atrophy of the cerebellar vermis and hemispheres.
Mapping
Illarioshkin et al. (1996) mapped a locus for X-linked recessive congenital ataxia in a Russian family to a large genetic interval (54 cM) on Xp11.21-q24. In an Italian family with clinical features very similar to those in the Russian pedigree, Bertini et al. (2000) performed a linkage study that narrowed the interval by 24 cM. Exclusion of the interval between DXS990 and DXS424 left 2 critical regions: one of 10 cM at Xq23-q24 and a second of 20 cM at Xp11.21-q21.3.
Heterogeneity
### Clinical Heterogeneity
Young et al. (1987) reported a family in which 3 boys, 2 full brothers and a half brother, presented with marked delay in motor milestones, severe limb and truncal ataxia, nystagmus, speech delay and moderate global retardation. Inheritance was most consistent with X-linked recessive.
Lutz et al. (1989) described apparent X-linked inheritance of a relatively pure cerebellar degeneration. Clinical features included infantile onset, cerebellar ataxia, very slow progression, mental retardation, and cerebellar degeneration with involvement of the olive and pons demonstrated by neuroimaging techniques.
In describing a Turkish family with ataxia combined with spastic diplegia in 7 males, Apak et al. (1989) pointed out the confusing state of the nosology of X-linked (spino)cerebellar ataxia/spastic paraplegia. The family they reported showed onset of nystagmus in infancy, with ataxia and pyramidal signs noted at age 2 to 3 years. The patients were never able to walk. Dysarthria, orthopedic impairment, and mild mental retardation appeared later as the disorder progressed. Death occurred in the third or fourth decade from infections. The features did not agree completely with any previously reported X-linked disorders.
Molecular Genetics
In the boy and his uncle with X-linked spinocerebellar ataxia-1 originally reported by Bertini et al. (2000), Zanni et al. (2012) identified a mutation in the ATP2B3 gene (G1107D; 300014.0001). The mutation was identified by X-exome sequencing and confirmed by Sanger sequencing. In vitro functional expression studies showed that the mutant protein had decreased extrusion of intracellular calcium compared to wildtype, suggesting that the disorder resulted from defective calcium homeostasis in neurons.
History
A kindred with X-linked inheritance of what the authors thought was probably 'Friedreich ataxia' was reported by Turner and Roberts (1938). Onset was at about 5 years of age and the victim was bedfast by about 20 years. The first carrier female in the kindred was of English extraction. Brandenberg (1910) described 4 males with 'Friedreich ataxia' in 3 generations of a family, related through females in a pattern consistent with X-linkage.
INHERITANCE \- X-linked recessive HEAD & NECK Eyes \- Strabismus \- Slow eye movements MUSCLE, SOFT TISSUES \- Hypotonia, neonatal NEUROLOGIC Central Nervous System \- Delayed motor development \- Cerebellar ataxia \- Dysarthria \- Difficulty standing independently \- Action tremor \- Intention tremor \- Cerebellar atrophy MISCELLANEOUS \- Onset at birth \- Nonprogressive disorder \- One family with a confirmed pathogenic ATP2B3 mutation has been reported (last curated December 2012) MOLECULAR BASIS \- Caused by mutation in the plasma membrane Ca(2+)-transporting ATPase 3 gene (ATP2B3, 300014.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
SPINOCEREBELLAR ATAXIA, X-LINKED 1
|
c0796205
| 25,345 |
omim
|
https://www.omim.org/entry/302500
| 2019-09-22T16:18:42 |
{"mesh": ["C563134"], "omim": ["302500"], "orphanet": ["1175"], "synonyms": ["Alternative titles", "OPCA, X-LINKED", "OLIVOPONTOCEREBELLAR ATROPHY, X-LINKED"]}
|
Burkland and Juzek (1966) reported cancer of the right ureter in mother and son.
GU \- Cancer of ureter 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
|
URETER, CANCER OF
|
c0153619
| 25,346 |
omim
|
https://www.omim.org/entry/191600
| 2019-09-22T16:32:10 |
{"doid": ["11819"], "mesh": ["D014516"], "omim": ["191600"], "icd-9": ["189.2"], "icd-10": ["C66"]}
|
## Clinical Features
Jubinsky et al. (2006) reported 3 sibs, born of nonconsanguineous Mexican parents, with holoprosencephaly (HPE), recurrent infections, and increased peripheral blood monocytes. All had microcephaly, dysmorphic facies, severe developmental delay, failure to thrive, and brachydactyly. The clinical courses were complicated by multiple recurrent respiratory and skin infections associated with peripheral blood monocytosis with abnormal morphology. Brain imaging and postmortem examination showed agenesis of the corpus callosum, interhemispheric cyst, lobar HPE, and other brain anomalies. The patients died of sepsis at ages 6 years, 8 months, and 4.5 years, respectively. Mutation analyses of genes known to be involved in HPE (see 236100) were negative. Since a previous infant born of a different father was also reportedly affected, the authors suggested a maternally transmitted autosomal dominant trait that may involve a defect in the monocyte/glial cell population.
INHERITANCE \- Autosomal dominant GROWTH Other \- Failure to thrive HEAD & NECK Head \- Microcephaly \- Brachycephaly Face \- Sloping forehead \- Dysmorphic facies Ears \- Narrow ear lobes \- Abnormal pinnae Eyes \- Epicanthal folds CHEST Breasts \- Inverted nipples GENITOURINARY External Genitalia (Male) \- Micropenis Internal Genitalia (Male) \- Cryptorchidism SKELETAL Hands \- Brachydactyly \- Tapering fingers Feet \- Brachydactyly SKIN, NAILS, & HAIR Skin \- Recurrent skin infections NEUROLOGIC Central Nervous System \- Holoprosencephaly \- Interhemispheric cysts \- Agenesis of the corpus callosum \- Mental retardation, severe IMMUNOLOGY \- Recurrent infections \- Monocytosis \- Abnormally large monocytes with vacuoles \- Monocytes show impaired motility LABORATORY ABNORMALITIES \- Increased peripheral blood monocytes MISCELLANEOUS \- Early death due to sepsis ▲ 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
|
HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS
|
c1853187
| 25,347 |
omim
|
https://www.omim.org/entry/610680
| 2019-09-22T16:04:13 |
{"mesh": ["C538328"], "omim": ["610680"]}
|
Climber's finger is one of the most common climbing injuries within the sport of rock climbing. It is an overuse injury that usually manifests in a swollen middle or ring finger due to a damaged flexor tendon pulley, normally the A2 or A4 pulley. It is particularly common after a repeated utilization of small holds.[1] Continued climbing on an injured finger may result in increased downtime in order to recover.[2]
## Contents
* 1 Treatment
* 2 References
## Treatment[edit]
Management of tendon injuries in the fingers is to follow the RICE method.[2][3][4]
* Immediately cease climbing and any other activity that puts stress on the injured finger. Consult a doctor if there is noticeable "bowstringing" on the flexor tendon or if you are unsure about the nature of the injury.
* There are different theories out there for the preferred line of approach. Some argue for the use of NSAIDs and ice for visible swelling only.
* Light massage can be used to increase blood flow to the injured area, aiding recovery. Massage tools such as acupressure rings can be beneficial in the same way.
* Use of collagen supplements may help the tendons recover faster by providing much needed building block nutrients.
* When the pain and swelling is gone (depending of the grade of the injury, 1–4 weeks), begin with an active healing process – containing squeezing putty clay or a stress ball. Combine this with mild exercise, such as finger flexions, to ensure your finger will heal properly and better prepared for future stress. The use of heating pads and cold water baths are also mentioned in several sources in order to increase blood flow. Use this therapy for about twice as long as the previous resting period (2–8 weeks) before gradually returning, with the utmost care, to climbing.
* Gradually return to climbing while using prophylactic taping every time you climb, and spend the first weeks climbing relatively easy routes with big holds, good footholds and keep your sessions short and stay away from overhangs and campus areas/boards.
* Return to full-force climbing if easy climbing yields no pain. Continue taping (it will also serve as a mental note of the previous injury) and avoid tweaky crimps and pockets for several months, since complete tendon healing can take 100 days or more.
## References[edit]
1. ^ Preston, Dayton. "Rock Climbing Reaching New Heights". Hughston health alert. Retrieved 12 January 2011.
2. ^ a b Hörst, Eric J (2008). "Finger Tendon Pulley Injury". Nicros. Archived from the original on September 30, 2011. Retrieved 12 January 2011.
3. ^ Roseborrough, Aimee; Roseborrough, Kyle (2009). "Fingers and Pulleys". Retrieved 12 January 2011.
4. ^ Schöffl, Volker; Schöffl, I. (2007). "Finger pain in rock climbers: reaching the right differential diagnosis and therapy". J Sports Med Phys Fitness. 47 (1): 70–8. PMID 17369801.
This climbing-related article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
This ligament-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
|
Climber's finger
|
None
| 25,348 |
wikipedia
|
https://en.wikipedia.org/wiki/Climber%27s_finger
| 2021-01-18T18:40:30 |
{"wikidata": ["Q5133655"]}
|
Ectopia cordis
SpecialtyCardiology
Cardiothoracic surgery
Medical genetics
Ectopia cordis (Greek: "away / out of place" \+ Latin: "heart") or ectopic heart is a congenital malformation in which the heart is abnormally located either partially or totally outside of the thorax. The ectopic heart can be found along a spectrum of anatomical locations, including the neck, chest, or abdomen. In most cases, the heart protrudes outside the chest through a split sternum.[1]
## Contents
* 1 Pathology
* 2 Diagnosis
* 3 Treatment
* 4 Prognosis
* 5 Epidemiology
* 6 References
* 7 External links
## Pathology[edit]
Ectopia cordis results from a failure of proper maturation of midline mesoderm and ventral body wall formation during embryonic development.[2] The exact etiology remains unknown, but abnormalities in the lateral body wall folds are believed to be involved. Normally, the lateral body walls are responsible for fusion at the midline to form the ventral wall. Corruption of this process may underlie ectopia cordis.[3]
Defective ventral body wall formation yields a heart unprotected by the pericardium, sternum, or skin. Other organs may also have formed outside the skin, as well. Many cases of ectopia cordis have associated congenital heart defects, in which the heart has failed to properly form.
Defects more commonly associated with ectopia cordis include:[1][2][4]
* Intracardiac defects
* Atrial septal defect
* Ventricular septal defect
* Tetralogy of Fallot
* Tricuspid atresia
* Double outlet right ventricle
* Non-cardiac malformations
* Pentalogy of Cantrell
* Omphalocele
* Anterior diaphragmatic hernia
* Cleft palate
## Diagnosis[edit]
The Diagnosis of ectopia cordis is found with a routine ultrasound as early as the first trimester or the beginning of the second trimester.[citation needed]
## Treatment[edit]
Due to the rarity and rapid postpartum mortality of ectopia cordis, limited treatment options have been developed. Only some successful surgeries have been performed as of now,[5][6] and the mortality rate remains high.
## Prognosis[edit]
The prognosis of ectopia cordis depends on classification according to three factors:[1]
1. Location of the defect
* Cervical
* Thoracic
* Thoracoabdominal
* Abdominal
2. Extent of the cardiac displacement
3. Presence or absence of intracardiac defects
Some studies have suggested a better prognosis with surgery in cases of thoracoabdominal ectopia cordis or less severe pentalogy of Cantrell. In general, the prognosis for ectopia cordis is poor—most cases result in death shortly after birth due to infection, hypoxemia, or cardiac failure.[4]
## Epidemiology[edit]
The occurrence of ectopia cordis is 8 per million births.[2] It is typically classified according to location of the ectopic heart, which includes:
* Cervical
* Thoracic
* Thoracoabdominal
* Abdominal
Thoracic and thoraco-abdominal ectopia cordis constitute the vast majority of known cases.[1]
## References[edit]
1. ^ a b c d Park, Myung K (2008). Park: Pediatric Cardiology for Practitioners. Mosby/Elsevier. p. 322. ISBN 978-0-323-04636-7.
2. ^ a b c Amato J, Douglas W, Desai U, Burke S (2000). "Ectopia cordis". Chest Surg Clin N Am. 10 (2): 297–316, vii. PMID 10803335.
3. ^ Sadler TW (2010). "The embryologic origin of ventral body wall defects". Semin Pediatr Surg. 19 (3): 209–14. doi:10.1053/j.sempedsurg.2010.03.006. PMID 20610194.
4. ^ a b Bernstein, Daniel (2011). Kliegman: Nelson Textbook of Pediatrics. Elsevier. p. 1599. ISBN 978-1-4377-0755-7.
5. ^ Walsh, Fergus (2017-12-13). "Baby has heart put back inside chest". BBC News.
6. ^ "Girl born with heart outside chest (4) - English". ANSA.it. 2020-05-27. Retrieved 2020-05-27.
## External links[edit]
Classification
D
* ICD-10: Q24.8
* ICD-9-CM: 746.87
* MeSH: D054083
External resources
* Orphanet: 448270
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Ectopia cordis
|
c0013580
| 25,349 |
wikipedia
|
https://en.wikipedia.org/wiki/Ectopia_cordis
| 2021-01-18T19:09:38 |
{"mesh": ["D054083"], "umls": ["C0013580"], "icd-9": ["746.87"], "icd-10": ["Q24.8"], "orphanet": ["448270"], "wikidata": ["Q1356194"]}
|
Ring chromosome 18 is a rare chromosome abnormality in which the ends (arms) of chromosome 18 join together to form a ring shape. When a ring chromosome forms, genetic material can be lost from either arm or both arms, causing various signs and symptoms. While most people with ring chromosome 18 have the ring chromosome in all of their body cells, some people also have some body cells with normal chromosomes (this is called mosaicism). People with ring chromosome 18 mosaicism may have milder symptoms.
Depending on the amount of genetic material lost and which genes are involved, signs and symptoms that may be present in a person with ring chromosome 18 include ear and hearing abnormalities, abnormally-developed feet or hands, genital abnormalities in males, an increased risk to develop juvenile rheumatoid arthritis, holoprosencephaly, developmental delays, learning difficulties, short stature, and/or various birth defects.
Ring chromosome 18 usually occurs sporadically (by chance) during the formation of egg or sperm cells or shortly after the egg and sperm join together. Occasionally, it is inherited from a parent (typically the mother). A chromosome test of the parents can help determine whether it was inherited and whether future children have an increased chance to have a chromosome abnormality. Treatment for ring chromosome 18 depends on the signs and symptoms present in each person.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Ring chromosome 18
|
c2931809
| 25,350 |
gard
|
https://rarediseases.info.nih.gov/diseases/6077/ring-chromosome-18
| 2021-01-18T17:57:53 |
{"mesh": ["C538304"], "umls": ["C2931809"], "orphanet": ["1442"], "synonyms": ["Chromosome 18 ring", "Ring 18", "R18"]}
|
Neonatal hemochromatosis
Neonatal hemochromatosis is inherited in an autosomal recessive manner
Neonatal Hemochromatosis is a rare and severe liver disease of unknown origin, though research suggests that it may be alloimmune condition. Its characteristics are similar to hereditary hemochromatosis, where iron deposition causes damage to the liver and other organs and tissues.
## Contents
* 1 Causes
* 2 Diagnosis
* 2.1 Differential diagnosis
* 3 Treatment
* 4 References
* 5 Further reading
* 6 External links
## Causes[edit]
The causes of neonatal hemochromatosis are still unknown, but recent research has led to the hypothesis that it is an alloimmune disease. Evidence supporting this hypothesis includes the high rate among siblings (>80%). This evidence along with other research indicates that neonatal hemochromatosis could be classified as a congenital alloimmune hepatitis.[1]
## Diagnosis[edit]
### Differential diagnosis[edit]
The condition is sometimes confused with juvenile hemochromatosis, which is a hereditary hemochromatosis caused by mutations of a gene called hemojuvelin. While the symptoms and outcomes for these two diseases are similar, the causes appear to be different.[citation needed]
## Treatment[edit]
Effective treatment of the disease has been confined to liver transplants. Success has also been reported with an antioxidant chelation cocktail, though its effectiveness cannot be confirmed. Based on the alloimmune cause hypothesis, a new treatment involving high-dose immunoglobulin to pregnant mothers who have had a previous pregnancy with a confirmed neonatal hemochromatosis outcome, has provided very encouraging results.[2]
## References[edit]
1. ^ Whitington PF (August 2007). "Neonatal hemochromatosis: a congenital alloimmune hepatitis". Semin Liver Dis. 27 (3): 243–250. CiteSeerX 10.1.1.562.7251. doi:10.1055/s-2007-985069. PMID 17682971.
2. ^ Whitington PF, Hibbard JU (November 6–12, 2004). "High-dose immunoglobulin during pregnancy for recurrent neonatal haemochromatosis". The Lancet. 364 (9446): 1690–8. doi:10.1016/S0140-6736(04)17356-X. PMID 15530630. S2CID 25829660.
## Further reading[edit]
* Andrews N (1999). "Disorders of iron metabolism". New England Journal of Medicine. 341 (26): 1986–95. doi:10.1056/NEJM199912233412607. PMID 10607817. link
## External links[edit]
* Hemachromatosis page at the National Center for Biotechnology Information
Classification
D
* ICD-10: E83.1
* OMIM: 231100
* MeSH: C536394 C536394, C536394
* DiseasesDB: 34508
External resources
* Orphanet: 446
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Neonatal hemochromatosis
|
c0268059
| 25,351 |
wikipedia
|
https://en.wikipedia.org/wiki/Neonatal_hemochromatosis
| 2021-01-18T18:33:31 |
{"gard": ["7172"], "mesh": ["C536394"], "umls": ["C0268059"], "orphanet": ["446"], "wikidata": ["Q1627324"]}
|
Chitayat et al. (1990) reported 2 brothers with renal hypophosphatemia, intracerebral calcifications, and short distal phalanges. The children presented with recurrent dental abscesses. One had premature closure of the anterior fontanel. Biochemical findings included hypophosphatemia and elevated serum alkaline phosphatase with normal serum calcium levels. Blood levels of parathyroid hormone and vitamin D were normal. Measures of tubular reabsorption of phosphate gave low values. Both parents had normal serum phosphate and brain CT scan.
HEENT \- Intracerebral calcifications \- Premature anterior fontanel closure \- Recurrent dental abscesses GU \- Renal hypophosphatemia \- Tubular phosphate reabsorption low Inheritance \- Autosomal recessive Lab \- Hypophosphatemia \- Elevated serum alkaline phosphatase \- Normal serum calcium \- Normal blood parathyroid hormone and vitamin D Skel \- Short distal phalanges ▲ 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
|
HYPOPHOSPHATEMIA, RENAL, WITH INTRACEREBRAL CALCIFICATIONS
|
c1855809
| 25,352 |
omim
|
https://www.omim.org/entry/241519
| 2019-09-22T16:26:34 |
{"mesh": ["C565478"], "omim": ["241519"]}
|
A number sign (#) is used with this entry because hereditary angioedema types I and II are caused by heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1; 606860) on chromosome 11q. HAE caused by homozygous mutation in the C1NH gene has also been reported.
Another type of hereditary angioedema, HAE type III (610618), is caused by mutation in the gene encoding coagulation factor XII (F12; 610619) on chromosome 5q.
Description
Hereditary angioedema (HAE) is an autosomal dominant disorder characterized by episodic local subcutaneous edema and submucosal edema involving the upper respiratory and gastrointestinal tracts. There are 2 classic types of the disorder. In type I, representing 85% of patients, serum levels of C1NH are less than 35% of normal (Cicardi and Agostoni, 1996; Bowen et al., 2001). In type II, the levels are normal or elevated, but the protein is nonfunctional. The 2 types are clinically indistinguishable.
See 300145 for a discussion of angioedema induced by ACE inhibitors.
Zuraw (2008) provided a detailed review of the clinical features, management, and pathogenesis of hereditary angioedema.
Clinical Features
Edema of the larynx and other portions of the airways is the most fearsome feature of this disorder. Visceral involvement with abdominal pain can lead to unnecessary laparotomy (Weinstock et al., 1987; Waytes et al., 1996).
Weinstock et al. (1987) described a family in which lifelong abdominal pain was the only manifestation of hereditary angioedema. A 40-year-old man, 2 of his brothers, his mother, and his daughter were affected. In addition to abdominal pain, nausea, diarrhea, and vomiting occurred, but there were no cutaneous, oropharyngeal, or respiratory manifestations. Barium studies during painful attacks showed transient intestinal wall edema.
In rare patients the deficiency is acquired, with symptoms first emerging well into adulthood. Jackson et al. (1986), Alsenz et al. (1987), and Malbran et al. (1988) described patients with acquired C1 inhibitor deficiency resulting from anti-C1NH autoantibodies. These patients had no evidence of an underlying disease, followed a benign course, and showed variable responses to therapy. Frigas (1989) described a patient with acquired C1 inhibitor deficiency who had no evidence of underlying disease 11 years after onset.
Muhlemann et al. (1987) found an increased frequency of thyroglobulin antibodies and thyroid microsomal antibodies in patients with hereditary angioedema. They reported the occurrence of systemic lupus erythematosus and glomerulonephritis in patients with this disorder.
Perricone et al. (1992) concluded that polycystic ovaries (PCO syndrome; 184700) or multifollicular ovaries occur with unusually high frequency in women with HANE. Weidenbach et al. (1993) reported a 25-year-old woman, with no family history of the disorder, in whom infectious mononucleosis appeared to precipitate the acute onset of HAE.
Yakushiji et al. (2007) reported a 35-year-old woman who presented with rapid onset of severe numbness and weakness of all 4 extremities. Detailed laboratory investigations revealed decreased serum levels of several complement components, including C2, C4, C1q, and C1INH. Nerve conduction studies indicated a sensorimotor axonal peripheral neuropathy. Peripheral nerve biopsies showed enlarged nerves with vasculitis and lymphocytic infiltration; most of the proliferating capillaries were strongly positive for anti-C1q, consistent with activation of the classic complement pathway. There was also a decrease of myelinated fibers and axonal degeneration. The patient's asymptomatic mother and sister were also found to have decreased serum C1INH, prompting the diagnosis of HAE, which was confirmed by genetic analysis. Yakushiji et al. (2007) noted that vasculitic neuropathy had not previously been described in patients with HAE.
### Association with Lymphoproliferative Disorders
Angioedema due to acquired C1 inhibitor deficiency has been associated with benign or malignant B-cell lymphoproliferative disorders such as chronic lymphocytic leukemia, multiple myeloma, or essential cryoglobulinemia (Gelfand et al., 1979) and is due not to defective synthesis but to markedly increased catabolism of the C1 inhibitor protein. Frigas (1989) reported a patient with angioedema associated with a B-cell lymphoproliferative disorder that became evident 9 months after C1NH deficiency was diagnosed.
Diagnosis
Laurent et al. (1988) showed that sonographic demonstration of fluid in the abdomen in association with an attack of abdominal pain could be used in diagnosis.
### Prenatal Diagnosis
Stoppa-Lyonnet et al. (1987) suggested that unique familial variants of the C1NH gene may be used for prenatal or early diagnosis of the disease. In 1 subject in an affected family, the C1 inhibitor level determined at birth in cord blood was inconclusive. Later the measurement showed a level in agreement with the diagnosis predicted by DNA analysis.
Biochemical Features
Three types of C1 esterase inhibitor were described by Rosen et al. (1971) in different families with angioneurotic edema. Immunologically, one group had levels of inhibitor (an alpha-2 neuraminoglycoprotein) 17.5% of normal, a second group had levels 111% of normal, and a third group represented by affected persons in a single kindred had levels more than 400% of normal. Although immunologically identical, the three types of inhibitor differed in electrophoretic and other characteristics from the normal and from each other.
Pathogenesis
From immunofluorescence studies, Johnson et al. (1971) concluded that deficient hepatic synthesis of C1 inhibitor is the basis of the deficiency in plasma inhibitor.
Cicardi et al. (1982) reported on 104 cases in 31 families. In 22%, functionally defective C1 esterase inhibitor was present (HANE type II). In 78%, both antigen levels and functional activity of C1 esterase inhibitor were low (HANE type I).
Quastel et al. (1983) studied the catabolism of C1 inhibitor in HANE I. The fact that serum concentrations of a structurally normal C1 inhibitor is 5 to 31% of normal rather than the 50% expected in heterozygotes is explained, the authors suggested, by the presence of only one functional gene and increased catabolism of the protein. On the basis of in vivo turnover studies, Quastel et al. (1983) suggested that there is activation of C1 or other protease systems in which this protein acts as an inhibitor. This, in turn, could lead to consumption of normal C1 inhibitor that falls below normal.
Although the hepatocyte is the main site of synthesis of the inhibitor, cultured human peripheral blood monocytes also synthesize and secrete this protein. Cicardi et al. (1987) found that in the supernatant of such cells, the inhibitor was present at levels of about 20% of normal, whereas intracellular reduction approached 50%. The Northern blot analysis showed inhibitor mRNA to be present at about half-normal concentrations. One of the patients showed a genetically abnormal mRNA (1.9 kb) in addition to the normal mRNA (2.1 kb).
To ascertain the mechanism for decreased synthesis of C1 inhibitor in certain patients with type I HANE, Kramer et al. (1993) studied expression of C1NH in fibroblasts in which the mutant and wildtype mRNA and protein could be distinguished because of deletion of exon 7 (606860.0001). In the mutant cells, the amount of wildtype mRNA was expressed at 52% of normal, whereas the mutant mRNA was 27% of normal. Rates of synthesis of both wildtype and mutant proteins were lower than predicted from the mRNA levels. There was no evidence of increased C1NH protein catabolism. Thus, there appear to be multiple levels of control of C1NH synthesis in type I HANE. Pretranslational regulation results in less than 50% of the mutant truncated 1.9-kb mRNA; translational regulation results in decreased synthesis of both wildtype and mutant proteins. These data suggested a transinhibition of wildtype C1NH translation by mutant mRNA and/or protein.
In an editorial, Cicardi and Agostoni (1996) used an instructive diagram to demonstrate the pathophysiology of hereditary angioedema.
Inheritance
A considerable number of kindreds with angioneurotic edema transmitted in a typical autosomal dominant pattern have been described. In the family studied by Trigg (1961), about twice as many males as females were affected. A family studied by Donaldson and Rosen (1964) had previously been reported by Heiner and Blitzer (1957). Cohen (1961) described a family with many cases in 5 generations. Although reported as giant urticaria, the same family was studied by Rosen et al. (1965) and shown to have a defect in a component of complement. Agostoni and Cicardi (1992) pointed out that in more than 20% of those with hereditary angioedema, the mutations are de novo and therefore there is no family history of the disease.
Verpy et al. (1996) found a homozygous mutation (606860.0013) in a promoter for the C1NH gene in 2 affected members of a family. In this family, homozygosity correlated with low C1 inhibitor levels and severe HANE. In contrast, heterozygotes for this mutation had C1 inhibitor within the normal range, although often at its lower level, and were free of angioedema attacks. These results suggest autosomal recessive inheritance of this mutation. Other patients with HAE caused by homozygous mutation in the C1NH gene have been reported (see, e.g., 606860.0015 and 606860.0017 reported by Blanch et al., 2006 and Bafunno et al., 2013, respectively).
Mapping
Theriault et al. (1989, 1990) used in situ hybridization to map the human C1 inhibitor gene (606860) to chromosome 11q11-q13.1.
Clinical Management
Nzeako et al. (2001) and Winkelstein and Colten (1989) reviewed the clinical features and therapy of HANE.
Spaulding (1960) and Dennehy (1970) described apparently effective prophylaxis with testosterone, and Frank et al. (1972) reported that epsilon aminocaproic acid is efficacious in treatment. The therapeutic benefit of Danazol, an 'impeded' androgen, is of interest from the point of view of the basic defect in this disorder (Gelfand et al., 1976). Danazol also raises the levels of the deficient protein in alpha-1-antitrypsin deficiency (Gadek et al., 1980) and in hemophilias A and B (Gralnick and Rick, 1983). Cicardi et al. (1982) found concentrates of C1 inhibitor to be effective and without side effects in the treatment of severe acute attacks. Androgen derivatives were useful for long-term prophylaxis.
Sheffer et al. (1988) reported that stanozolol is a safe and effective agent. Borum and Howard (1998) stated that prophylactic therapy with attenuated androgens or antifibrinolytic agents is useful, and that plasma concentrate of C1NH is the treatment of choice in an acute episode.
Waytes et al. (1996) concluded that infusions of vapor-heated C1 inhibitor concentrate are a safe and effective means of both preventing attacks of hereditary angioedema and treating acute attacks. The concentrate was vapor-heated to inactivate hepatitis and human immunodeficiency viruses.
Zuraw et al. (2010) conducted 2 randomized trials to evaluate nanofiltered C1 inhibitor concentrate with placebo for treatment of an acute attack of angioedema. A total of 68 subjects (35 in the C1 inhibitor group and 33 in the placebo group) were given 1 or 2 intravenous injections of the study drug (1,000 units each). The primary endpoint was the time to the onset of unequivocal relief. In this study, the median time to the onset of unequivocal relief from an attack was 2 hours in the subjects treated with C1 inhibitor concentrate but longer than 4 hours in those given placebo (P = 0.02). The second study was a crossover trial involving 22 subjects with hereditary angioedema that compared prophylactic twice-weekly injections of nanofiltered C1 inhibitor concentrate (1,000 units) with placebo during two 12-week periods. The primary endpoint was the number of attacks of angioedema per period, with each subject acting as his or her own control. In this study, the number of attacks per 12-week period was 6.26 with C1 inhibitor concentrate given as prophylaxis, as compared with 12.73 with placebo (P less than 0.001); the subjects who received the C1 inhibitor concentrate also had significant reductions in both the severity and the duration of attacks, in the need for open-label rescue therapy, and in the total number of days with swelling.
Cicardi et al. (2010) performed a double-blind, placebo-controlled clinical trial in which patients with hereditary angioedema presenting with an acute attack were randomly assigned in a 1-to-1 ratio to receive subcutaneous ecallantide at a dose of 30 mg or placebo. Patients were evaluated using treatment outcome scores and change from baseline in the mean symptom complex severity score. The primary endpoint was the treatment outcome score 4 hours after study-drug administration. A total of 71 of the 72 patients completed the trial. The median treatment outcome score at 4 hours was 50.0 in the ecallantide group and 0.0 in the placebo group (interquartile range (IQR), 0.0 to 100.0 in both groups; P = 0.004). The median change in the mean symptom complex severity score at 4 hours was -1.00 (IQR, -1.50 to 0.00) with ecallantide, versus -0.50 (IQR, -1.00 to 0.00) with placebo (P = 0.01). The estimated time to significant improvement was 165 minutes with ecallantide versus more than 240 minutes with placebo (P = 0.14). There were no deaths, treatment-related serious adverse events, or withdrawals owing to adverse events.
Cicardi et al. (2010) described 2 double-blind, randomized, multicenter trials in which they evaluated the effect of icatibant, a selective bradykinin B2 receptor (113503) antagonist, in patients with hereditary angioedema presenting with cutaneous or abdominal attacks. In the For Angioedema Subcutaneous Treatment (FAST)-1 trial, patients received either icatibant or placebo; in FAST-2, patients received either icatibant or oral tranexamic acid, at a dose of 3 g daily for 2 days. Icatibant was given once, subcutaneously, at a dose of 30 mg. The primary endpoint was the median time to clinically significant relief of symptoms. A total of 56 and 74 patients underwent randomization in the FAST-1 and FAST-2 trials, respectively. The primary endpoint was reached in 2.5 hours with icatibant versus 4.6 hours with placebo in the FAST-1 trial (P = 0.14) and in 2.0 hours with icatibant versus 12.0 hours with tranexamic acid in the FAST-2 trial (P less than 0.001). In the FAST-1 study, 3 recipients of icatibant and 13 recipients of placebo needed treatment with rescue medication. The median time to first improvement of symptoms, as assessed by patients and by investigators, was significantly shorter with icatibant in both trials. No icatibant-related serious adverse events were reported.
In an accompanying editorial to the articles by Zuraw et al. (2010), Cicardi et al. (2010), and Cicardi et al. (2010), Morgan (2010) suggested that the existence of several agents available to treat hereditary angioedema will significantly improve survival for affected individuals.
Wuillemin (2011) commented on the studies of Zuraw et al. (2010), Cicardi et al. (2010), and Cicardi et al. (2010) and noted the availability of a pasteurized C1 inhibitor preparation in several European countries. He also mentioned the successful experience in Switzerland of C1 inhibitor concentrate self-administration, with regular practical training, for hereditary angioedema patients, and concluded that self-administration leads to better medical outcome and enhanced quality of life. Zuraw (2011) concurred. Morgan (2011) noted that guidelines and requirements for possession and self-administration of C1 inhibitor would exclude many patients, including children, and that practitioners fear that drug use would escalate as patients treat minor swellings or false prodromes. He suggested that the Swiss experience might provide reassurance about these matters, and that available data should be disseminated.
Referring to the studies of Cicardi et al. (2010) and Cicardi et al. (2010), Giavina-Bianchi et al. (2011) stated that the registration in only a few countries of formulations of C1 esterase-inhibitor concentrate is not an adequate justification to use a placebo comparison drug, and called for studies comparing icatibant and ecallantide with C1 esterase-inhibitor concentrate. Cicardi and Banerji (2011) replied that since their studies were performed in accordance with both the Declaration of Helsinki and expert consensus, they considered them ethically acceptable.
To test the efficacy and safety of lanadelumab, a fully human monoclonal antibody that selectively inhibits active plasma kallikrein, in prevention of hereditary angioedema attacks, Banerji et al. (2018) conducted a phase 3 randomized, double-blind, parallel-group, placebo-controlled clinical trial at 41 sites in Canada, Europe, Jordan, and the US for 26 weeks in 125 patients aged 12 years and older (mean age 40.7 years). All 3 lanadelumab treatment regimens produced significantly significant reductions in the mean attack rate, number of attacks requiring acute treatment, and number of moderate or severe attacks compared with placebo. A total of 38.1% of patients treated with lanadelumab were attack-free over the entire treatment period. The majority (93.3%) of adverse events were related to the injection site. Banerji et al. (2018) concluded that their results supported the use of lanadelumab as a prophylactic therapy for hereditary angioedema.
### Management in Pregnancy
Chappatte and De Swiet (1988) gave an account of pregnancy in 2 patients with HANE. They suggested that prophylaxis against attacks should not be used during pregnancy and that severe attacks should be treated with purified C1NH concentrate.
Cox and Holdcroft (1995) discussed the management of pregnancy and delivery in a 20-year-old primiparous woman with a history of type I HAE first diagnosed at age 12. She had been treated with an attenuated androgen in low dose (danazol and then amicar), which raised her C1 esterase inhibitor level and controlled her symptoms. Danazol rendered the patient oligomenorrheic. Since it is also teratogenic (Duck and Katayama, 1981), it was withdrawn under hospital observation when she decided to start a family. The recurrent symptoms were controlled with intravenous administration of C1 esterase inhibitor. Vaginal delivery in HAE may be impeded by perineal edema and abdominal pain may obscure obstetric disorders. In this case, successful spontaneous vaginal delivery was achieved using prophylactic C1 esterase inhibitor and epidural analgesia.
Molecular Genetics
Stoppa-Lyonnet et al. (1987) studied DNA from multiple members of 2 families with hereditary angioedema and from 6 unrelated patients. Their results indicated that a defective structural gene was responsible for the disease. In a patient with type I HANE, Ariga et al. (1989) found a deletion in exon 7 (606860.0001) of the C1NH gene. In 2 unrelated families with HANE type II, Levy et al. (1990) demonstrated a G-to-A change in codon 436 of the C1NH gene, resulting in an alanine-to-threonine residue change (606860.0002).
Patients with HANE type I appear to have a deletion of the C1 inhibitor gene or a truncated transcript because of a stop codon, whereas patients with HANE type II have a single base substitution. The 2 forms are clinically indistinguishable.
Guarino et al. (2006) reported 2 brothers with type I hereditary angioedema in whom they identified heterozygosity for a nonsense mutation in the C1NH gene (606860.0014). Clinical and laboratory findings of both parents and relatives were normal. The mutation occurred on the maternally transmitted chromosome, but was not detected in DNA derived from the mother's buccal cells, urinary cells, hair roots, or cultured fibroblasts, suggesting that the mother was a true gonadal mosaic.
History
Quincke (1882) first described (and named) angioneurotic edema. Osler (1888), while in Philadelphia, was first to describe the hereditary form.
Dennehy (1970) called attention to the fact that Nathaniel Hawthorne was apparently familiar with this disorder for in his 'House of the Seven Gables' he described a family with members who gurgled in the throat and chest when excited and who would sometimes die this way, ever since a curse to choke on blood had been placed on 1 of their ancestors. Dennehy (1970) interpreted the following passage as an indication that Hawthorne recognized that a hereditary disease, not a curse, was responsible for the deaths: 'This mode of death has been an idiosyncrasy with his family, for generations past....Old Maule's prophecy was probably founded on a knowledge of this physical predisposition in the Pyncheon race.'
Six years before Quincke (1882) introduced the term angioneurotic edema, Milton (1876) described 1 of his patients with angioedema in the following words: 'So soon as ever she came into the room I recognized the affection, for there lay, across the face from temple to temple, an oblong tumor almost closing both eyes.'
Robson et al. (1979) demonstrated that HANE is not linked to HLA or PGM1 on chromosome 6 and not linked to C6, which had not been assigned. Linkage to markers on 1p (Rh), 4q (MNSs), 9q (ABO), 16q (Hp), and 7 (Km) was also excluded. Furthermore, HANE was not linked to Gm. Linkage to HLA was excluded by Eggert et al. (1982). In family linkage studies, Olaisen et al. (1985) obtained 'a clear hint' that the HANE locus may be distal to F13A (134570) on 6p; the maximum lod score with F13A was 1.0 at a recombination fraction of 10%.
INHERITANCE \- Autosomal dominant \- Autosomal recessive RESPIRATORY Nasopharynx \- Pharyngeal edema Larynx \- Laryngeal edema ABDOMEN \- Abdominal pain Gastrointestinal \- Intestinal edema \- Diarrhea \- Vomiting SKIN, NAILS, & HAIR Skin \- Erythema marginatum MUSCLE, SOFT TISSUES \- Episodic, nonpruritic, nonurticarial, nonpitting edema NEUROLOGIC Peripheral Nervous System \- Peripheral axonal neuropathy, distal, vasculitic \- Sural nerve biopsy shows axonal degeneration \- Impaired sensation of all modalities, distal LABORATORY ABNORMALITIES \- C1 esterase inhibitor deficiency \- Low level of C4 and C2 MISCELLANEOUS \- Symptoms typically begin in childhood \- Prevalence estimated at 1 in 50,000 \- Highly variable frequency and severity of attacks \- Trauma, anxiety, and/or stress can precipitate or aggravate edema \- Laryngeal edema can result in asphyxiation \- Associated with increased frequency of autoimmune diseases \- Several patients with homozygous C1NH mutations have been reported (see 606860.0013 ) MOLECULAR BASIS \- Caused by mutation in the C1 esterase inhibitor gene (C1NH, 106100.0001 ) ▲ Close
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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
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*[SSRIs]: Selective serotonin reuptake inhibitors
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*[TCAs]: Tricyclic antidepressants
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*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
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*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
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*[DSMA]: Distal spinal muscular atrophies
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*[hCG]: human chorionic gonadotropin
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*[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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*[CFUs]: Colony-forming units
*[nm]: nanometer
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*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
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ANGIOEDEMA, HEREDITARY, TYPE I
|
c0398775
| 25,353 |
omim
|
https://www.omim.org/entry/106100
| 2019-09-22T16:45:03 |
{"doid": ["14735"], "omim": ["106100"], "orphanet": ["100050", "100051", "91378"], "synonyms": ["Alternative titles", "ANGIONEUROTIC EDEMA, HEREDITARY", "C1 ESTERASE INHIBITOR, DEFICIENCY OF"]}
|
A number sign (#) is used with this entry because von Willebrand disease (VWD) type 3 is caused by homozygous or compound heterozygous mutation in the gene encoding von Willebrand factor (VWF; 613160), which maps to chromosome 12p13.
Description
Von Willebrand disease is a bleeding disorder resulting from a defect in platelet aggregation due to defects in the von Willebrand factor protein. Type 3 von Willebrand disease, which is inherited as an autosomal recessive disorder, is associated with a severe quantitative defect or virtual absence of VWF in plasma, a prolonged bleeding time, and more severe bleeding tendencies compared to the other types of VWD. Type 3 accounts for about 1% of patients with VWD. Bleeding usually starts in infancy and can include epistaxis, recurrent mucocutaneous bleeding, bleeding after surgery, and hemarthroses. Since VWF also serves as a carrier protein for coagulation factor VIII (F8; 300841), affected individuals also have very low levels of plasma F8, resembling hemophilia A (306700) (summary by Zhang et al. (1992, 1993); reviews by Sadler et al., 2006 and Lillicrap, 2009).
For a general description and a classification of the types of von Willebrand disease, see VWD type 1 (193400).
Clinical Features
Von Willebrand (1926, 1931) discovered a hemorrhagic condition in persons living on the Aland Islands in the Sea of Bothnia between Sweden and Finland and called it 'pseudohemophilia.' (See 300600 for another Aland Island disease.) The main difference from classic hemophilia was prolonged bleeding time. Major clinical problems were gastrointestinal, urinary, and uterine bleeding; hemarthroses were rare, but present. Nyman et al. (1981) followed up on the kindred originally reported by von Willebrand (1926). Zhang et al. (1993) described patients descended from the original family reported by von Willebrand (1926). Only heterozygotes were found surviving. The proposita was a 5-year-old girl, who later bled to death during her fourth menstrual period. She had a normal coagulation time, but the bleeding time was prolonged, despite a normal platelet count. All but 1 of her 11 sibs had bleeding symptoms, as did both of her parents, who were third cousins, and many members of her family on both sides. Four of the proband's sisters had died of uncontrolled bleeding in early childhood; 3 died from gastrointestinal bleeding and 1 from bleeding after she bit her tongue in a fall. The predominant symptoms were bleeding from mucous membranes, such as from the nose, the gingivae after tooth extractions, the uterus, and the gastrointestinal tract. In contrast to hemophilia, hemarthroses seemed to be rare. All 5 of the girls who died from uncontrolled bleeding were probably homozygotes.
Zimmerman et al. (1979) studied the factor VIII abnormalities in patients with severe recessive von Willebrand disease from 8 families. In 5 families, the parents were first or second cousins. Heterozygous parents had normal to moderately decreased factor VIII-related antigen. A qualitative abnormality of the trace quantities of factor VIII-related antigen was demonstrated in 5 of 6 patients, with absence or relative decrease of the larger, less anodal forms. In addition, 5 different patterns were observed, each suggesting a different molecular abnormality. The findings indicated that severe von Willebrand disease is allelic to the dominant forms of the disorders, with different mutations responsible for the defect.
Berliner et al. (1986) observed a relatively high incidence of severe autosomal recessive VWD type 3 in Israel, especially among Arabs. In 15 obligate carriers of type 3 disease, mean levels of factor VIII clotting activity, of von Willebrand factor, and of ristocetin cofactor were significantly higher than the corresponding mean values in 31 symptomatic and 12 asymptomatic VWD type 1 patients, and in turn lower than the values observed in 30 healthy subjects. Ristocetin cofactor was the best criterion for discrimination of type 3 carriers, normals, and type 1 patients.
Other Features
Sramek et al. (2004) studied atherosclerotic lesions in the carotid and femoral arteries of 47 individuals with type 3 VWD and 84 healthy controls and found no difference in intima-media thickness, proportion with atherosclerotic plaques, or thickness of plaques. There was no effect of VWF treatment on intima-media or plaque thickness in VWD patients. Sramek et al. (2004) concluded that VWF does not play a substantial role in human atherogenesis.
Inheritance
Von Willebrand disease is inherited as an autosomal recessive trait (Lillicrap, 2009).
Autosomal recessive inheritance of VWD was described by several authors, including Veltkamp and van Tilburg (1974), Holmberg (1974), Sultan et al. (1975), Ruggeri et al. (1976), and Ingram (1978). Sultan et al. (1975) noted that the phenotype can be as severe as that observed in hemophilia. Many of the patients were born of consanguineous parents. In some instances, heterozygous parents showed minor laboratory abnormalities in the absence of clinical features of the disorder.
Clinical Management
In a review of VWD, James and Lillicrap (2008) noted that VWD type 3 is associated with the development of anti-VWF alloantibodies after exposure to therapeutic VWF concentrates, representing an important issue in the clinical management of this subtype.
Population Genetics
Lillicrap (2009) stated that VWD type 3 varies in incidence from frequencies of 1 per 500,000 to 1 per million in many Western countries, to figures as high as 6 per million in countries where consanguineous marriages are more frequent.
Sutherland et al. (2009) identified a recurrent 8.6-kb deletion of exons 4 and 5 of the VWF gene (613160.0038) in Caucasian British patients with VWD type 3 and VWD type 1 (193400). The deletion was not found in VWD patients of Asian origin, and haplotype analysis confirmed a founder effect in the white British population.
Molecular Genetics
Ngo et al. (1988) studied the genomic DNA from 10 affected persons from 6 families with severe von Willebrand disease, characterized by undetectable or trace quantities of VWF in plasma and tissue stores. Four patients from 1 family showed complete homozygous deletion of the VWF gene. Gene dosage analysis was consistent with heterozygous deletion in both of the asymptomatic parents and in 4 asymptomatic sibs. A second family had complete heterozygous deletion of the VWF gene in the proband and in 1 asymptomatic parent, suggesting that a different type of genetic abnormality was inherited from the other parent, consistent with compound heterozygosity. Alloantibodies to VWF after treatment developed only in the kindred with homozygous deletions.
In a patient with severe type 3 von Willebrand disease, Peake et al. (1990) found a homozygous 2.3-kb deletion in the VWF gene which included exon 42; a novel 182-bp insertion was found between the breakpoints. The patient had an alloantibody inhibitor to VWF. The insertion was detected by PCR amplification both in the patient's DNA and in his carrier relatives.
In patients with VWD type 3, Zhang et al. (1992, 1992, 1992) identified homozygous or compound heterozygous mutations in the VWF gene (see, e.g., 613160.0015-613160.0017). Some heterozygous family members had a less severe phenotype, consistent with VWD type 1.
Zhang et al. (1993) found that the original family with VWD reported by von Willebrand (1926) carried a common 1-bp deletion in the VWF gene (613160.0021).
Eikenboom et al. (1998) reviewed families with recessive VWD type 3 from northern Italy. Several mutations located throughout the gene were identified, indicating diverse molecular defects (see, e.g., C2362F, 613160.0034).
Genotype/Phenotype Correlations
Shelton-Inloes et al. (1987) found a correlation between the development of alloantibodies to VWF and the nature of the genetic lesion in VWD. Alloantibodies to VWF have been described only in the severe type 3 disease. Shelton-Inloes et al. (1987) studied 19 patients with severe recessive VWD type 3 by Southern blotting with probes encompassing the full 9 kb of the VWF cDNA. Two presumably unrelated patients with type 3 who had large deletions within the VWF gene were the only ones among those studied who developed inhibitory alloantibodies to VWF.
INHERITANCE \- Autosomal recessive HEAD & NECK Nose \- Epistaxis SKELETAL \- Hemarthrosis may occur SKIN, NAILS, & HAIR Skin \- Easy bruising HEMATOLOGY \- Prolonged bleeding time \- Mucocutaneous bleeding \- Prolonged bleeding after surgery or trauma \- Menorrhagia LABORATORY ABNORMALITIES \- Severely decreased antigen levels of VWF and factor VIII MISCELLANEOUS \- Most severe type of von Willebrand disease MOLECULAR BASIS \- Caused by mutation in the von Willebrand factor gene (VWF, 613160.0015 ) ▲ 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
|
VON WILLEBRAND DISEASE, TYPE 3
|
c1264041
| 25,354 |
omim
|
https://www.omim.org/entry/277480
| 2019-09-22T16:21:12 |
{"doid": ["0111054"], "mesh": ["D056729"], "omim": ["277480"], "orphanet": ["166096", "903"], "synonyms": ["Alternative titles", "VON WILLEBRAND DISEASE, TYPE III", "VWD, TYPE 3"], "genereviews": ["NBK7014"]}
|
A rare inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome (GBS).
## Epidemiology
Overall annual incidence of GBS is estimated at between 1/91,000 and 1/55,000. AIDP accounts for around 90% of GBS cases in Europe and North America and thus the term GBS is often synonymous with AIDP in Western countries. The disease occurs in patients of all ages and men are affected about 1.5 times more often than women.
## Clinical description
The clinical course of AIDP is divided into three phases. The first phase (lasting a few weeks) is characterized by rapidly progressive muscle weakness (usually appearing first in the feet and progressing upwards). It is symmetrical and may cause acute neuromuscular paralysis. Sensory disturbances (tingling and numbness), intense pains, and cramps may also occur. Other sites involved may include the respiratory muscles (leading to acute respiratory failure, with 20-30% of patients needing mechanical ventilation), the deglutition muscles (leading to life-threatening aspiration) and the eye muscles (leading to ophthalmoplegia). Deep-tendon reflexes may be decreased or absent. During the second phase (variable duration), symptoms become stable but other manifestations (cardiac arrhythmias, hyper/hypotension and gastric dysmotility) may occur. During the third (recovery) phase, lasting a few months or longer, symptoms slowly regress. Many patients have residual findings (weakness, sensory disturbances, fatigue or pain) for many months or even years.
## Etiology
In the majority of cases, an infectious disease precedes the onset of limb weakness, with Campylobacter jejuni infection being the most frequent initiating event. Cytomegalovirus, Epstein-Barr virus, Mycoplasma pneumoniae, and Haemophilus influenza have also been implicated. Onset of AIDP has also been reported after vaccination and surgical intervention. Although the exact pathological mechanisms remain to be discovered, AIDP is associated with activated macrophage infiltration of myelin sheaths, leading to myelin damage and demyelination. Other immunological mechanisms are also likely to play a role.
## Diagnostic methods
Diagnosis is based on the clinical picture and can be difficult to establish. Lumbar puncture and cerebrospinal fluid (CSF) examination should be performed and electromyography can be helpful for confirming the diagnosis and identifying the GBS subtype: AIDP, or the axonal (AMAN, AMSAN) forms (see these terms).
## Differential diagnosis
The differential diagnosis is wide and includes drug-induced neuropathy, critical illness polyneuropathy, carcinomatosis, metabolic disturbances, acute rhabdomyolysis, and cord and spinal nerve root compression or inflammation. Porphyria, vasculitis, diphtheria,, myasthenia gravis, botulism, polymyositis, dermatomyositis, brainstem encephalitis, meningitis, transverse myelitis, poliomyelitis (see these terms) as well as vitamin B1 deficiency may also be considered.
## Management and treatment
Optimal care from a multidisciplinary team providing intensive-care facilities is essential for management. Treatment consists of rapid administration of intravenous immunoglobulin (IVIg) or plasma exchange. Physiotherapy and rehabilitation are important.
## Prognosis
GBS patients have a variable prognosis: it is estimated that around 50% of patients recover completely or have only minor sequelae, 20% are unable to walk after 6 months and 3% die. Multiple clinical, electrophysiological, serological and laboratory factors have been identified as predictors of a poor outcome. Fatigue and endurance intolerance may persist for years.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Acute inflammatory demyelinating polyradiculoneuropathy
|
c0393819
| 25,355 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98916
| 2021-01-23T18:58:50 |
{"mesh": ["D020277"], "omim": ["139393"], "umls": ["C1963929"], "icd-10": ["G61.0"], "synonyms": ["AIDP", "Acute idiopathic demyelinating polyneuropathy", "Acute inflammatory polyneuropathy", "GBS, acute inflammatory demyelinating polyradiculoneuropathic form", "Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form"]}
|
Abortion doping refers to the rumoured practice of purposely inducing pregnancy for athletic performance-enhancing benefits, then aborting the pregnancy. While allegations have been made regarding the practice, there is no proof that it has ever been done.
## Contents
* 1 Potential physical benefits
* 2 Allegations
* 3 Legality
* 4 See also
* 5 References
## Potential physical benefits[edit]
Hormonal and other changes in pregnancy affect physical performance. In the first three months it is known that a woman’s body produces a natural surplus of red blood cells, which are well supplied with oxygen-carrying hemoglobin, in order to support the growing fetus.[1] Other potential advantages are obtained from the surge in hormones that pregnancy induces, predominantly progesterone and estrogen, but also testosterone, which could increase muscle strength. Increases in hormones like relaxin, which loosens the hip joints to prepare for childbirth, may have a performance-enhancing effect on joint mobility.[1] However it is also argued that the advantages would be outweighed by the drawbacks of morning sickness and fatigue, both of which are common in early pregnancy.[2]
## Allegations[edit]
Western media outlets began accusing Soviet countries of abortion doping as early as the 1956 Summer Olympics, and allegations were raised again at the 1964 Summer Olympics.[2] Rumours of abortion doping continued throughout the 1970s and 1980s, predominately aimed at East German athletes.[1] In 1988, Prince Alexandre de Merode, then vice-president of the International Olympic Committee (IOC), supported stories that Eastern European athletes were getting artificially inseminated in an attempt to boost athletic performance and then aborting two to three months later. Merode said he knew a Swiss doctor who was performing the procedure; however, it was never proven.[3] In 1988, Finnish doctor Risto Erkola told the Sunday Mirror "Now that drug testing is routine, pregnancy is becoming the favourite way of getting an edge on competition". Erkola's comment is frequently cited in discussions on abortion doping.[2] According to the fact-checking website Snopes.com, media reports following this claim were skeptical of it, and there was no evidence that Erkola had any first-hand knowledge of the practice. Dr Peter Larkins, then an official of the Australian Sports Medicine Association, also challenged the claim,[2] though Greg Whyte, Professor of applied sport and exercise science at Liverpool John Moores University, has said the East German allegations are plausible.[1]
In 1994, Olga Karasyova, who won a Gold medal in gymnastics at the 1968 Summer Olympics, was reported to have given an interview with German television station RTL Television as well as a Russian newspaper. The interviews quoted her as stating that abortion doping was widespread among Soviet athletes in the 1970s, and that girls as young as 14 were being forced to have sex with their coaches. Karasyova, however, later said the person who had given the interviews was an imposter, and she successfully sued the Russian newspaper for defamation.[2][4][5] Despite her legal victory, the original interviews attributed to her continue to be reported as facts by some third parties.[2]
A 2017 article by Snopes.com categorises abortion doping as "unproven", concluding that the practice is confirmed only by the dubious interview with Karasyova, is "buttressed by speculative science, and are largely amplified in recent years by anti-abortion groups". Snopes accuse anti-abortion groups of selective reporting and using poorly sourced arguments when writing articles about the subject.[2] Multiple sources have concluded there is no proof that abortion doping has ever actually been done.[1][3]
## Legality[edit]
While abortion doping is officially banned under United States Olympic rules, there is no ban on getting pregnant.[6] If an athlete was accused of abortion doping, she could simply argue that the pregnancy was not induced for the temporary physiological benefits. The procedure was determined not to be illegal by the IOC.[7]
## See also[edit]
* Blood doping
## References[edit]
1. ^ a b c d e Bee, Peta (September 14, 2009). "Sportswomen benefit from pregnancy". The Times. Archived from the original on May 28, 2010. Retrieved April 29, 2010.
2. ^ a b c d e f g Kasprak, Alex (December 5, 2017). "Is 'Abortion Doping' a Real Practice?". Snopes.com. Archived from the original on 2018-04-02. Retrieved 2018-04-02.
3. ^ a b Greer, Germaine (May 6, 2007). "It's time for the pregnant Olympics". Guardian.com. Archived from the original on 2018-04-02. Retrieved 2016-12-13.
4. ^ Golubev, Vladimir (March 7, 2001). "Олимпийская чемпионка разоблачает двойника". Viperson (in Russian). Archived from the original on 2018-04-03. Retrieved 2018-04-03.
5. ^ "Olga Karasyova". Sports Reference LLC. Archived from the original on 2013-02-03. Retrieved 2018-04-03.
6. ^ Webb, Royce. "Fahrenheit 755: Baseball Gets Hammered, or The Thrill of Victory, and the Agony of Da Fetus". ESPN. Archived from the original on 2018-04-02. Retrieved 2018-09-30.
7. ^ Mikkleson, Barbara (September 8, 2007). "Abortion Doping". Snopes.com. Archived from the original on 2013-02-02. Retrieved 2009-11-27.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Abortion doping
|
None
| 25,356 |
wikipedia
|
https://en.wikipedia.org/wiki/Abortion_doping
| 2021-01-18T18:53:43 |
{"wikidata": ["Q4668438"]}
|
A rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic 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
|
Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
|
c2699747
| 25,357 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=364033
| 2021-01-23T16:53:10 |
{"icd-10": ["D47.9"], "synonyms": ["Systemic EBV+ T-cell LPD of childhood", "Systemic EBV-positive T-cell lymphoproliferative disease of childhood"]}
|
## Description
Colloid cysts of the third ventricle are benign tumors that may lie dormant and be found incidentally at autopsy or on CT or MRI examination. By contrast, in some cases they may cause severe, acute obstruction to the flow of cerebrospinal fluid, leading to coma and death. More commonly, they present as recurrent headaches, ataxia, nausea and vomiting, depression, memory loss, and emotional lability, all of which are associated with chronic hydrocephalus. Symptomatic colloid cysts are seen most commonly in middle life, but they also occur in childhood and old age (summary by Partington and Bookalil, 2004).
Inheritance
Partington and Bookalil (2004) described a father and daughter with colloid cysts of the third ventricle. They stated that inheritance is likely autosomal dominant. In a review of 9 previously reported examples of familial occurrence, they noted that Akins et al. (1996) described an affected father and son and that Ibrahim et al. (1986) and Ahmed and Stanworth (2002) reported identical twins with colloid cysts of the third ventricle. Familial cases were also reported by Bengtson et al. (1990), Vandertop et al. (1995), Mathiesen et al. (1997), Stoodley et al. (1999), Nader-Sepahi and Hamlyn (2000), and Socin et al. (2002).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
COLLOID CYSTS OF THIRD VENTRICLE
|
c0266481
| 25,358 |
omim
|
https://www.omim.org/entry/609363
| 2019-09-22T16:06:13 |
{"mesh": ["C535966"], "omim": ["609363"], "synonyms": ["Alternative titles", "NEUROEPITHELIAL CYSTS OF THIRD VENTRICLE"]}
|
Posterior cortical atrophy
Other namesBiparietal Alzheimer disease
Lobes of the human brain
SpecialtyNeurology
Posterior cortical atrophy (PCA), also called Benson's syndrome, is a rare form of dementia which is considered a visual variant or an atypical variant of Alzheimer's disease (AD).[1][2][3] The disease causes atrophy of the posterior part of the cerebral cortex, resulting in the progressive disruption of complex visual processing.[4] PCA was first described by D. Frank Benson in 1988.[5][6]
PCA usually affects people at an earlier age than typical cases of Alzheimer's disease, with initial symptoms often experienced in people in their mid-fifties or early sixties.[4] This was the case with writer Terry Pratchett (1948-2015), who went public in 2007 about being diagnosed with PCA.[7] In rare cases, PCA can be caused by dementia with Lewy bodies and Creutzfeldt–Jakob disease.[6][4]
## Contents
* 1 Symptoms
* 1.1 Connection to Alzheimer's disease
* 2 Diagnosis
* 3 Treatment
* 4 References
* 5 External links
## Symptoms[edit]
The main symptom resulting from posterior cortical atrophy is a decrease in visuospatial and visuoperceptual capabilities, since the area of atrophy involves the occipital lobe responsible for visual processing.[8] The atrophy is progressive; early symptoms include difficulty reading, blurred vision, light sensitivity, issues with depth perception, and trouble navigating through space.[9][10] Additional symptoms include apraxia, a disorder of movement planning, alexia, an impaired ability to read, and visual agnosia, an object recognition disorder.[11] In the two-streams hypothesis damage to the ventral, or “what” stream, of the visual system, located in the temporal lobe, leads to the symptoms related to general vision and object recognition deficits; damage to the dorsal, or “where/how” stream, located in the parietal lobe, leads to PCA symptoms related to impaired movements in response to visual stimuli, such as navigation and apraxia.[11][10]
The dorsal stream (green) runs through the parietal lobe, and the ventral stream (purple) runs through the temporal lobe. Both streams originate in the occipital lobe (blue) located posteriorly.
As neurodegeneration spreads, more severe symptoms emerge, including the inability to recognize familiar people and objects, trouble navigating familiar places, and sometimes visual hallucinations.[8][9] In addition, difficulty may be experienced in making guiding movements towards objects, and a decline in literacy skills including reading, writing, and spelling may develop.[9][12][13] Furthermore, if neural death spreads into other anterior cortical regions, symptoms similar to Alzheimer's disease, such as memory loss, may result.[9][12] In PCA where there is significant atrophy in one hemisphere of the brain hemispatial neglect may result – the inability to see stimuli on one half of the visual field.[10] Anxiety and depression are also common symptoms.[14]
### Connection to Alzheimer's disease[edit]
Studies have shown that PCA may be a variant of Alzheimer's disease (AD), with an emphasis on visual deficits.[2][11] Although in primarily different, but sometimes overlapping, brain regions, both involve progressive neural degeneration, as shown by the loss of neurons and synapses, and the presence of neurofibrillary tangles and senile plaques in affected brain regions; this eventually leads to dementia in both diseases.[15][16] In PCA there is more cortical damage and gray matter (cell body) loss in posterior regions, especially in the occipital, parietal, and temporal lobes, whereas in Alzheimer’s there is typically more damage in the prefrontal cortex and hippocampus.[12][15][17] PCA tends to impair working memory and anterograde memory, while leaving episodic memory intact, whereas in AD there is typically impaired episodic memory, suggesting some differences still lie in the primary areas of cortical damage.[9][15]
Over time, however, atrophy in PCA may spread to regions that are commonly damaged in AD, leading to shared AD symptoms such as deficits in memory, language, learning, and cognition.[11][12][15][16] Although PCA has an earlier onset, a diagnosis with Alzheimer’s is often made, suggesting that the degeneration has simply migrated anteriorly to other cortical brain regions.[8][11]
There is no standard definition of PCA and no established diagnostic criteria, so it is not possible to know how many people have the condition. Some studies have found that about 5 percent of people diagnosed with Alzheimer’s disease have PCA. However, because PCA often goes unrecognized, the true percentage may be as high as 15 percent. Researchers and physicians are working to establish a standard definition and diagnostic criteria for PCA.[18]
PCA may also be correlated with Lewy body disease, Creutzfeldt–Jakob disease, Bálint's syndrome, and Gerstmann syndrome.[9][10][19] In addition, PCA may result in part from mutations in the presenilin 1 gene (PSEN1).[10]
## Diagnosis[edit]
The cause of PCA is unknown, and there are no fully accepted diagnostic criteria for the disease.[2][10] This is partially due to the gradual onset of PCA symptoms, their variety, the rare nature of the disease, and the younger age of onset typically 50–60 years.[20] In 2012, the first international conference on PCA was held in Vancouver, Canada. Continued research and testing will hopefully result in accepted and standardized criteria for diagnosis.[10]
PCA is often initially misdiagnosed as an anxiety disorder or depression. It has been suggested that depression or anxiety may resut from the symptoms of decreased visual function, and the progressive nature of the disease. Early visual impairments have often led to a referral to an ophthalmologist, which can result in unnecessary cataract surgery.[20]
Due to the lack of biomarkers for PCA, neuropsychological examinations are advised.[21] Neuroimaging can also assist in the diagnosis of PCA.[20] For PCA and AD neuroimaging is carried out using MRI scans, single-photon emission computed tomography, and positron emission tomography (PET scans).[22] Neuroimages are often compared to those of people with AD to assist diagnosis. Due to the early onset of PCA in comparison to AD, images taken at the early stages of the disease will vary from brain images in AD. At this early stage brain atrophy will be shown to be more centrally located in the right posterior lobe and occipital gyrus, while AD brain images show the majority of atrophy in the medial temporal cortex. This variation within the images will assist in early diagnosis of PCA; however, as the years go on the images will become increasingly similar, due to the majority of PCA also developing to AD later in life because of continued brain atrophy.[10][23] A key aspect found through brain imaging of PCA patients is a loss of grey matter (collections of neuronal cell bodies) in the posterior and occipital temporal cortices within the right hemisphere.[24]
For some people with PCA, neuroimaging may not give a clear diagnosis; therefore, careful observation in relation to PCA symptoms can also assist in the diagnosis.[20] The variation and lack of organized clinical testing has led to continued difficulties and delays in the diagnosis of PCA.[10]
## Treatment[edit]
Specific and accepted treatment for PCA has yet to be discovered; this may be due to the rarity and variations of the disease.[10][25] At times people with PCA are treated with AD treatments such as, cholinesterase inhibitors, donepezil, rivastigmine,galantamine, and memantine.[10] Antidepressant drugs have also provided some positive effects.[20]
Other treatments such as occupational therapy, or help with adapting to visual changes may help.[10][20] People with PCA and their caregivers are likely to have different needs than the more typical cases of Alzheimer's disease, and may benefit from specialized support groups, or other groups for young people with dementia. No study to date has been definitive to provide accepted conclusive analysis on treatment options.[20]
## References[edit]
1. ^ Schott JM, Crutch SJ (February 2019). "Posterior Cortical Atrophy". Continuum (Minneap Minn). 25 (1): 52–75. doi:10.1212/CON.0000000000000696. PMC 6548537. PMID 30707187.
2. ^ a b c "Visual variant of Alzheimer's disease - EyeWiki". eyewiki.aao.org. Retrieved 2017-11-07.
3. ^ Nestor PJ, Caine D, Fryer TD, Clarke J, Hodges JR (2003). "The topography of metabolic deficits in posterior cortical atrophy (the visual variant of Alzheimer's disease) with FDG-PET". J Neurol Neurosurg Psychiatry. 74 (11): 1521–1529. doi:10.1136/jnnp.74.11.1521. PMC 1738241. PMID 14617709.
4. ^ a b c "Posterior Cortical Atrophy". UCSF Memory and Aging Center. University of California, San Francisco. Retrieved 2011-10-22.
5. ^ Benson DF, Davis RJ, Snyder BD (July 1988). "Posterior Cortical Atrophy". Archives of Neurology. 45 (7): 789–793. doi:10.1001/archneur.1988.00520310107024. PMID 3390033.
6. ^ a b "Posterior Cortical Atrophy". Martinos Center for Biomedical Imaging. Harvard University. 2009-01-19. Retrieved 2011-10-22.
7. ^ "Terry Pratchett pledges $1 million to Alzheimer's research". Alzheimer's Research Trust. 2011-07-29.
8. ^ a b c Mendez, Mario; Mehdi Ghajarania; Kent Perryman (14 June 2002). "Posterior cortical atrophy: Clinical characteristics and differences compared to Alzheimer's disease". Dementia and Geriatric Cognitive Disorders. 14 (1): 33–40. doi:10.1159/000058331. PMID 12053130.
9. ^ a b c d e f Crutch, Sebastian; Manja Lehmann; Jonathan Schott; Gil Rabinovici; Martin Rosser; Nick Fox (February 2012). "Posterior Cortical Atrophy" (PDF). The Lancet Neurology. 11 (2): 170–178. doi:10.1016/s1474-4422(11)70289-7. PMC 3740271. PMID 22265212.
10. ^ a b c d e f g h i j k l Borruat, François-Xavier (18 October 2013). "Posterior Cortical Atrophy: Review of the Recent Literature" (PDF). Neuro-Ophthalmology. 13 (12): 406. doi:10.1007/s11910-013-0406-8. PMID 24136454.
11. ^ a b c d e Goenthals, Maartin; Patrick Santens (20 February 2001). "Posterior cortical atrophy. Two case reports and a review of the literature". Clinical Neurology and Neurosurgery. 103 (2): 115–119. doi:10.1016/s0303-8467(01)00114-7.
12. ^ a b c d Crutch SJ, Schott JM, Rabinovici GD, Boeve BF, Cappa SF, Dickerson BC, Dubois B, Graff-Radford NR, Krolak-Salmon P, Lehmann M, Mendez MF, Pijnenburg Y, Ryan NS, Scheltens P, Shakespeare T, Tang-Wai DF, van der Flier WM, Bain L, Carrillo MC, Fox NC (Jul 2013). "Shining a light on posterior cortical atrophy". Alzheimer's & Dementia. 9 (4): 463–5. doi:10.1016/j.jalz.2012.11.004. PMID 23274153.
13. ^ Tsunoda, Ayami; Shuji Iritani; Norio Ozaki (17 March 2011). "Presenile dementia diagnosed as posterior cortical atrophy". Psychogeriatrics. 11 (3): 171–176. doi:10.1111/j.1479-8301.2011.00366.x. PMID 21951958.
14. ^ Crutch, Sebastian; Manja Lehmann; Jonathan Schott; Gil Rabinovici; Martin Rosser; Nick Fox (February 2012). "Posterior cortical atrophy". The Lancet Neurology. 11 (2): 170–178. doi:10.1016/s1474-4422(11)70289-7. PMC 3740271. PMID 22265212.
15. ^ a b c d Kennedy, Jonathan; Manja Lehmann; Magdalena J. Sokolska; Hilary Archer; Elizabeth K. Warrington; Nick C. Fox; Sebastian J. Crutch (25 October 2011). "Visualizing the emergence of posterior cortical atrophy". Neurocase: The Neural Basis of Cognition. 18 (3): 248–257. doi:10.1080/13554794.2011.588180. PMID 22026812.
16. ^ a b Hof, Patrick; Brent Vogt; Constantin Bouras; John Morrison (December 1997). "Atypical Form of Alzheimer's Disease with Prominent Posterior Cortical Atrophy: a Review of Lesion Distribution and Circuit Disconnection in Cortical Visual Pathways". Vision Res. 37 (24): 3609–3625. doi:10.1016/s0042-6989(96)00240-4. PMID 9425534.
17. ^ Tsunoda, Ayami; Shuji Iritani; Norio Ozaki (17 March 2011). "Presenile dementia diagnosed as posterior cortical atrophy". Psychogeriatrics. 11 (171–176): 171–176. doi:10.1111/j.1479-8301.2011.00366.x. PMID 21951958.
18. ^ "Posterior Cortical Atrophy | Signs, Symptoms, & Diagnosis". Dementia. Retrieved 2016-07-25.
19. ^ Nagaratnam, Nages; Kujan Nagaratnam; Daniel Jolley; Allan Ting (6 June 2001). "Dementia following posterior cortical atrophy—a descriptive clinical case report". Archives of Gerontology and Geriatrics. 33 (2): 179–190. doi:10.1016/s0167-4943(01)00179-0.
20. ^ a b c d e f g Crutch, Sebastian J.; Manja Lehmann; Jonathan M. Schott; Gil D. Rabinovici; Martin N. Rossor; Nick C. Fox (February 2012). "Posterior Cortical Atrophy". The Lancet Neurology. 11 (2): 170–178. doi:10.1016/s1474-4422(11)70289-7. PMC 3740271. PMID 22265212.
21. ^ Croisile, MD. Bernard; Alexis Brice (September 2004). "Benson's syndrome or Posterior Cortical Atrophy" (PDF). Orphanet Encyclopedia. Retrieved 11 November 2013.
22. ^ Goldstein, Martin A.; Iliyan Ivanov; Michael E. Silverman (May 2011). "Posterior Cortical Atrophy: An Exemplar for Renovating Diagnostic Formulation in Neurosychiaty". Comprehensive Psychiatry. 52 (3): 326–333. doi:10.1016/j.comppsych.2010.06.013. PMID 21497228.
23. ^ Möller C, van der Flier WM, Versteeg A, Benedictus MR, Wattjes MP, Koedam EL, Scheltens P, Barkhof F, Vrenken H (Feb 2014). "Quantitative Regional Validation of the Visual Rating Scale for Posterior Cortical Atrophy". European Radiology. 24 (2): 397–404. doi:10.1007/s00330-013-3025-5. PMID 24092044.
24. ^ Migliaccio R, Agosta F, Toba MN, Samri D, Corlier F, de Souza LC, Chupin M, Sharman M, Gorno-Tempini ML, Dubois B, Filippi M, Bartolomeo P (November 2012). "Brain Networks in Posterior Cortical Atrophy: A Single Case Tractography Study and Literature Review". Cortex. 48 (10): 1298–1309. doi:10.1016/j.cortex.2011.10.002. PMC 4813795. PMID 22099855.
25. ^ Caine, Diana (2004). "Posterior Cortical Atrophy: A Review of the Literature". Neurocase. 10 (5): 382–385. doi:10.1080/13554790490892239. PMID 15788276.
## External links[edit]
* Posterior Cortical Atrophy support from the Dementia Research Centre
Classification
D
* ICD-10: G31.1
External resources
* Orphanet: 54247
* v
* t
* e
Diseases of the nervous system, primarily CNS
Inflammation
Brain
* Encephalitis
* Viral encephalitis
* Herpesviral encephalitis
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* Encephalitis lethargica
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movement disorders
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Dementia
* Tauopathy
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* Early-onset
* Primary progressive aphasia
* Frontotemporal dementia/Frontotemporal lobar degeneration
* Pick's
* Dementia with Lewy bodies
* Posterior cortical atrophy
* Vascular dementia
Mitochondrial disease
* Leigh syndrome
Demyelinating
* Autoimmune
* Inflammatory
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* For more detailed coverage, see Template:Demyelinating diseases of CNS
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paroxysmal
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* For more detailed coverage, see Template:Epilepsy
Headache
* Migraine
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* For more detailed coverage, see Template:Headache
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* TIA
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* For more detailed coverage, see Template:Cerebrovascular diseases
Other
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* For more detailed coverage, see Template:Sleep
CSF
* Intracranial hypertension
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* Intracranial hypotension
Other
* Brain herniation
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Both/either
Degenerative
SA
* Friedreich's ataxia
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* UMN only:
* Primary lateral sclerosis
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* SMALED1
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* SMA-PCH
* SMA-PME
* Progressive muscular atrophy
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* Fazio–Londe
* Infantile progressive bulbar palsy
* both:
* Amyotrophic lateral sclerosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Posterior cortical atrophy
|
c4275079
| 25,359 |
wikipedia
|
https://en.wikipedia.org/wiki/Posterior_cortical_atrophy
| 2021-01-18T19:00:54 |
{"orphanet": ["54247"], "synonyms": ["Benson syndrome", "Biparietal Alzheimer disease", "PCA"], "wikidata": ["Q2869816"]}
|
Cole-Carpenter syndrome
Autosomal recessive pattern is the inheritance manner of this condition
SpecialtyMedical genetics
Cole-Carpenter syndrome is a rare autosomal recessive medical condition in humans.[1] It is characterised by dysmorphic features and a tendency to fractures.
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Pathogensis
* 4 Diagnosis
* 4.1 Differential diagnosis
* 5 Treatment
* 6 History
* 7 References
## Signs and symptoms[edit]
This condition is usually diagnosed in infancy.
Features of this condition include[citation needed]
* Short trunk
* Poor growth
* Hydrocephalus
* Multiple fractures
* Craniofacial abnormalities
* Multisutural craniosynostosis
* Ocular proptosis
* Marked frontal bossing
* Midface hypoplasia
* Micrognathia
## Genetics[edit]
There are three forms of this syndrome.
Type 1 has mutations in the protein disulfide-isomerase (P4HB) gene located on the long arm of chromosome 17 (17q25).[2]
Type 2 have mutations in the protein transport protein Sec24D (SEC24D) gene located on the long arm of chromosome 4 (4q26).[3]
A third type has been described with a mutation in the cartilage associated protein (CRTAP) located on the short arm of chromosome 3 (3p22.3).[4]
Clinically these forms are very similar and are best differentiated by gene sequencing.
## Pathogensis[edit]
Protein disulfide-isomerase is involved in the hydroxylation of proline residues in preprocollagen. Protein transport protein Sec24D is a protein involved in vesicle transport. How mutations in the gene cause disease is not yet clear. Cartilage associated protein is involved in post translation modifications of collagen.[citation needed]
## Diagnosis[edit]
The diagnosis may be suspected on the basis of the constellation of clinical features. It is made by sequencing the P4HB, SEC24D and CRTAP genes.[citation needed]
### Differential diagnosis[edit]
* Pfeiffer syndrome
* Osteogenesis imperfecta
* Osteoglophonic dwarfism
## Treatment[edit]
There is no specific treatment for this condition currently known and management of its various features is the norm.[citation needed]
## History[edit]
This condition was first described in 1987.[1]
## References[edit]
1. ^ a b Cole DEC, Carpenter, TO (1987) Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta. J Pediat 110: 76-80
2. ^ Rauch F, Fahiminiya S, Majewski J, Carrot-Zhang J, Boudko S, Glorieux F, Mort JS, Bächinger HP, Moffatt P (2015) Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. Am J Hum Genet 96(3):425-431. doi: 10.1016/j.ajhg.2014.12.027
3. ^ Garbes L, Kim K, Rieß A, Hoyer-Kuhn H, Beleggia F, Bevot A, Kim MJ, Huh YH, Kweon HS, Savarirayan R, Amor D, Kakadia PM, Lindig T, Kagan KO, Becker J, Boyadjiev SA, Wollnik B, Semler O, Bohlander SK9, Kim J13, Netzer C (2015) Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. Am J Hum Genet 96(3):432-439 doi: 10.1016/j.ajhg.2015.01.002. Epub 2015 Feb 12.
4. ^ Balasubramanian M, Pollitt RC, Chandler KE, Mughal MZ, Parker MJ, Dalton A, Arundel P, Offiah AC, Bishop NJ (2015) CRTAP mutation in a patient with Cole-Carpenter syndrome. Am J Med Genet A 167A(3):587-91. doi: 10.1002/ajmg.a.36916
Classification
D
* OMIM: 112240
* MeSH: C535963 C535963, C535963
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Cole-Carpenter syndrome
|
c1862178
| 25,360 |
wikipedia
|
https://en.wikipedia.org/wiki/Cole-Carpenter_syndrome
| 2021-01-18T19:09:34 |
{"gard": ["1425"], "mesh": ["C535963"], "umls": ["C1862178"], "orphanet": ["2050"], "wikidata": ["Q21127479"]}
|
Condition in which there are elevated levels of the fluoride ion in the body
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Find sources: "Fluoride toxicity" – news · newspapers · books · scholar · JSTOR (June 2014)
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Fluoride toxicity
Other namesFluoride poisoning
SpecialtyEmergency medicine, toxicology
Fluoride toxicity is a condition in which there are elevated levels of the fluoride ion in the body. Although fluoride is safe for dental health at low concentrations, sustained consumption of large amounts of soluble fluoride salts is dangerous. Referring to a common salt of fluoride, sodium fluoride (NaF), the lethal dose for most adult humans is estimated at 5 to 10 g (which is equivalent to 32 to 64 mg elemental fluoride/kg body weight).[1][2][3] Ingestion of fluoride can produce gastrointestinal discomfort at doses at least 15 to 20 times lower (0.2–0.3 mg/kg or 10 to 15 mg for a 50 kg person) than lethal doses.[4] Although it is helpful topically for dental health in low dosage, chronic ingestion of fluoride in large amounts interferes with bone formation. In this way, the most widespread examples of fluoride poisoning arise from consumption of ground water that is abnormally fluoride-rich.[5]
## Contents
* 1 Recommended levels
* 2 Toxicity
* 2.1 Chronic
* 2.2 Acute
* 3 Occurrence
* 3.1 Organofluorine compounds
* 3.1.1 Fluoride in toothpaste
* 3.1.2 Fluoride in drinking water
* 4 Effects
* 4.1 Brain
* 4.2 Bones
* 4.3 Kidney
* 4.4 Teeth
* 4.5 Thyroid
* 4.6 Effects on aquatic organisms
* 5 Mechanism
* 6 References
* 7 External links
## Recommended levels[edit]
For optimal dental health, the World Health Organization recommends a level of fluoride from 0.5 to 1.0 mg/L (milligrams per liter), depending on climate.[6] Fluorosis becomes possible above this recommended dosage. As of 2015, the United States Health and Human Services Department recommends a maximum of 0.7 milligrams of fluoride per liter of water – updating and replacing the previous recommended range of 0.7 to 1.2 milligrams issued in 1962. The new recommended level is intended to reduce the occurrence of dental fluorosis while maintaining water fluoridation.[7]
## Toxicity[edit]
### Chronic[edit]
Geographical areas associated with groundwater having over 1.5 mg/L of naturally occurring fluoride, which is above recommended levels.[8]
In India an estimated 60 million people have been poisoned by well water contaminated by excessive fluoride, which is dissolved from the granite rocks. The effects are particularly evident in the bone deformities of children. Similar or larger problems are anticipated in other countries including China, Uzbekistan, and Ethiopia.[5]
### Acute[edit]
Historically, most cases of acute fluoride toxicity have followed accidental ingestion of sodium fluoride based insecticides or rodenticides.[9] Currently, in advanced countries, most cases of fluoride exposure are due to the ingestion of dental fluoride products.[10] Other sources include glass-etching or chrome-cleaning agents like ammonium bifluoride or hydrofluoric acid,[11][12] industrial exposure to fluxes used to promote the flow of a molten metal on a solid surface, volcanic ejecta (for example, in cattle grazing after an 1845–1846 eruption of Hekla and the 1783–1784 flood basalt eruption of Laki), and metal cleaners. Malfunction of water fluoridation equipment has happened several times, including a notable incident in Alaska.[4]
## Occurrence[edit]
### Organofluorine compounds[edit]
Twenty percent of modern pharmaceuticals contain fluorine.[13] These organofluorine compounds are not sources of fluoride poisoning.[citation needed] The carbon–fluorine bond is too strong to release fluoride.[citation needed]
#### Fluoride in toothpaste[edit]
Children may experience gastrointestinal distress upon ingesting excessive amounts of flavored toothpaste. Between 1990 and 1994, over 628 people, mostly children, were treated after ingesting too much fluoride-containing toothpaste. "While the outcomes were generally not serious," gastrointestinal symptoms appear to be the most common problem reported.[14] However given the low concentration of fluoride present in dental products, this is potentially due to consumption of other major components.
#### Fluoride in drinking water[edit]
Around one-third of the world's population drinks water from groundwater resources. Of this, about 10 percent, approximately 300 million people, obtains water from groundwater resources that are heavily contaminated with arsenic or fluoride.[15] These trace elements derive mainly from leaching of minerals.[16] Maps are available of locations of potential problematic wells via the Groundwater Assessment Platform (GAP).[17]
## Effects[edit]
Excess fluoride consumption has been studied as a factor in the following:
### Brain[edit]
Some research has suggested that high levels of fluoride exposure may adversely affect neurodevelopment in children, but the evidence is of insufficient quality to allow any firm conclusions to be drawn.[18]
### Bones[edit]
Whilst fluoridated water is associated with decreased levels of fractures in a population,[19] toxic levels of fluoride have been associated with a weakening of bones and an increase in hip and wrist fractures. The U.S. National Research Council concludes that fractures with fluoride levels 1–4 mg/L, suggesting a dose-response relationship, but states that there is "suggestive but inadequate for drawing firm conclusions about the risk or safety of exposures at [2 mg/L]".[20]:170
Consumption of fluoride at levels beyond those used in fluoridated water for a long period of time causes skeletal fluorosis. In some areas, particularly the Asian subcontinent, skeletal fluorosis is endemic. It is known to cause irritable-bowel symptoms and joint pain. Early stages are not clinically obvious, and may be misdiagnosed as (seronegative) rheumatoid arthritis or ankylosing spondylitis.[21]
### Kidney[edit]
Fluoride induced nephrotoxicity is kidney injury due to toxic levels of serum fluoride, commonly due to release of fluoride from fluorine-containing drugs, such as methoxyflurane.[22][23][24]
Within the recommended dose, no effects are expected, but chronic ingestion in excess of 12 mg/day are expected to cause adverse effects, and an intake that high is possible when fluoride levels are around 4 mg/L.[20]:281 Those with impaired kidney function are more susceptible to adverse effects.[20]:292
The kidney injury is characterised by failure to concentrate urine, leading to polyuria, and subsequent dehydration with hypernatremia and hyperosmolarity. Inorganic fluoride inhibits adenylate cyclase activity required for antidiuretic hormone effect on the distal convoluted tubule of the kidney. Fluoride also stimulates intrarenal vasodilation, leading to increased medullary blood flow, which interferes with the counter current mechanism in the kidney required for concentration of urine.
Fluoride induced nephrotoxicity is dose dependent, typically requiring serum fluoride levels exceeding 50 micromoles per liter (about 1 ppm) to cause clinically significant renal dysfunction,[25] which is likely when the dose of methoxyflurane exceeds 2.5 MAC hours.[26][27] (Note: "MAC hour" is the multiple of the minimum alveolar concentration (MAC) of the anesthetic used times the number of hours the drug is administered, a measure of the dosage of inhaled anesthetics.)
Elimination of fluoride depends on glomerular filtration rate. Thus, patients with chronic kidney disease will maintain serum fluoride for longer period of time, leading to increased risk of fluoride induced nephrotoxicity.
### Teeth[edit]
The only generally accepted adverse effect of fluoride at levels used for water fluoridation is dental fluorosis, which can alter the appearance of children's teeth during tooth development; this is mostly mild and usually only an aesthetic concern. Compared to unfluoridated water, fluoridation to 1 mg/L is estimated to cause fluorosis in one of every 6 people (range 4–21), and to cause fluorosis of aesthetic concern in one of every 22 people (range 13.6–∞).[19]
### Thyroid[edit]
Fluoride's suppressive effect on the thyroid is more severe when iodine is deficient, and fluoride is associated with lower levels of iodine.[clarification needed][28] Thyroid effects in humans were associated with fluoride levels 0.05–0.13 mg/kg/day when iodine intake was adequate and 0.01–0.03 mg/kg/day when iodine intake was inadequate.[20]:263 Its mechanisms and effects on the endocrine system remain unclear.[20]:266
Testing on mice shows that the medication gamma-Aminobutyric acid (GABA) can be used to treat fluoride toxicity of the thyroid and return normal function.[29]
### Effects on aquatic organisms[edit]
Fluoride accumulates in the bone tissues of fish and in the exoskeleton of aquatic invertebrates. The mechanism of fluoride toxicity in aquatic organisms is believed to involve the action of fluoride ions as enzymatic poisons. In soft waters with low ionic content, invertebrates and fishes may suffer adverse effects from fluoride concentration as low as 0.5 mg/L. Negative effects are less in hard waters and seawaters, as the bioavailability of fluoride ions is reduced with increasing water hardness[30] Seawater contains fluoride at a concentration of 1.3 mg/L.[31]
## Mechanism[edit]
Like most soluble materials, fluoride compounds are readily absorbed by the stomach and intestines, and excreted through the urine. Urine tests have been used to ascertain rates of excretion in order to set upper limits in exposure to fluoride compounds and associated detrimental health effects.[32] Ingested fluoride initially acts locally on the intestinal mucosa, where it forms hydrofluoric acid in the stomach.
## References[edit]
1. ^ Gosselin, RE; Smith RP; Hodge HC (1984). Clinical toxicology of commercial products. Baltimore (MD): Williams & Wilkins. pp. III–185–93. ISBN 978-0-683-03632-9.
2. ^ Baselt, RC (2008). Disposition of toxic drugs and chemicals in man. Foster City (CA): Biomedical Publications. pp. 636–40. ISBN 978-0-9626523-7-0.
3. ^ IPCS (2002). Environmental health criteria 227 (Fluoride). Geneva: International Programme on Chemical Safety, World Health Organization. p. 100. ISBN 978-92-4-157227-9.
4. ^ a b Bradford D. Gessner; Michael Beller; John P. Middaugh; Gary M. Whitford (13 January 1994). "Acute fluoride poisoning from a public water system". New England Journal of Medicine. 330 (2): 95–99. doi:10.1056/NEJM199401133300203. PMID 8259189.
5. ^ a b Pearce, Fred (2006). When the Rivers Run Dry: Journeys Into the Heart of the World's Water Crisis. Toronto: Key Porter. ISBN 978-1-55263-741-8.
6. ^ WHO Expert Committee on Oral Health Status and Fluoride Use. Fluorides and oral health [PDF]. 1994.
7. ^ "Archive-It - News Releases".
8. ^ National Health and Medical Research Council (Australia). A systematic review of the efficacy and safety of fluoridation [PDF]. 2007 [Retrieved 2009-10-13]. ISBN 1-86496-415-4. Summary: Yeung CA. A systematic review of the efficacy and safety of fluoridation. Evid Based Dent. 2008;9(2):39–43. doi:10.1038/sj.ebd.6400578. PMID 18584000.
9. ^ Nochimson G. (2008). Toxicity, Fluoride. eMedicine. Retrieved 2008-12-28.
10. ^ Augenstein WL, Spoerke DG, Kulig KW, et al. (November 1991). "Fluoride ingestion in children: a review of 87 cases". Pediatrics. 88 (5): 907–12. PMID 1945630.
11. ^ Wu ML, Deng JF, Fan JS (November 2010). "Survival after hypocalcemia, hypomagnesemia, hypokalemia and cardiac arrest following mild hydrofluoric acid burn". Clinical Toxicology. 48 (9): 953–5. doi:10.3109/15563650.2010.533676. PMID 21171855. S2CID 11635168.
12. ^ Klasaer AE, Scalzo AJ, Blume C, Johnson P, Thompson MW (December 1996). "Marked hypocalcemia and ventricular fibrillation in two pediatric patients exposed to a fluoride-containing wheel cleaner". Annals of Emergency Medicine. 28 (6): 713–8. doi:10.1016/S0196-0644(96)70097-5. PMID 8953969.
13. ^ Emsley J (2011). Nature's Building Blocks: An A-Z Guide to the Elements. Oxford University Press. p. 178. ISBN 9780199605637.
14. ^ Jay D. Shulman; Linda M. Wells (1997). "Acute Fluoride Toxicity from Ingesting Home-use Dental Products in Children, Birth to 6 Years of Age". Journal of Public Health Dentistry. 57 (3): 150–158. doi:10.1111/j.1752-7325.1997.tb02966.x. PMID 9383753.
15. ^ Eawag (2015). Geogenic Contamination Handbook – Addressing Arsenic and Fluoride in Drinking Water. C. A. Johnson, A. Bretzler (eds.), Swiss Federal Institute of Aquatic Science and Technology (Eawag), Duebendorf, Switzerland.
16. ^ Rodríguez-Lado L, Sun G, Berg M, Zhang Q, Xue H, Zheng Q, Johnson CA (2013). "Groundwater arsenic contamination throughout China". Science. 341 (6148): 866–868. Bibcode:2013Sci...341..866R. doi:10.1126/science.1237484. PMID 23970694. S2CID 206548777.CS1 maint: multiple names: authors list (link)
17. ^ Groundwater Assessment Platform (GAP).
18. ^ Choi AL, Sun G, Zhang Y, Grandjean P (2012). "Developmental fluoride neurotoxicity: a systematic review and meta-analysis". Environ. Health Perspect. (Systematic review & Meta-analysis). 120 (10): 1362–8. doi:10.1289/ehp.1104912. PMC 3491930. PMID 22820538.
19. ^ a b McDonagh, Marian S.; Whiting, Penny F; Wilson, Paul M.; et al. (7 October 2000). "Systematic review of water fluoridation". BMJ. 321 (7265): 855–859. doi:10.1136/bmj.321.7265.855. PMC 27492. PMID 11021861.
20. ^ a b c d e National Research Council (2006). Fluoride in Drinking Water: A Scientific Review of EPA's Standards. Washington, DC: National Academies Press. doi:10.17226/11571. ISBN 978-0-309-10128-8. Lay summary (PDF) – NRC (September 24, 2008).. See also CDC's statement on this report.
21. ^ Gupta R, Kumar AN, Bandhu S, Gupta S (2007). "Skeletal fluorosis mimicking seronegative arthritis". Scand. J. Rheumatol. 36 (2): 154–5. doi:10.1080/03009740600759845. PMID 17476625. S2CID 39441582.
22. ^ Cousins MJ, Skowronski G, Plummer JL (November 1983). "Anaesthesia and the kidney". Anaesth Intensive Care. 11 (4): 292–320. doi:10.1177/0310057X8301100402. PMID 6359948.
23. ^ Baden JM, Rice SA, Mazze RI (March 1982). "Deuterated methoxyflurane anesthesia and renal function in Fischer 344 rats". Anesthesiology. 56 (3): 203–206. doi:10.1097/00000542-198203000-00009. PMID 7059030.
24. ^ Mazze RI (June 1976). "Methoxyflurane nephropathy". Environ Health Perspect. 15: 111–119. doi:10.1289/ehp.7615111. PMC 1475154. PMID 1001288.
25. ^ Cousins MJ, Greenstein LR, Hitt BA, Mazze RI (1976). "Metabolism and renal effect of enflurane in man". Anesthesiology. 44 (1): 44–53. doi:10.1097/00000542-197601000-00009. PMID 1244774. S2CID 22903804.
26. ^ Van Dyke R (1973). "Biotransformation of volatile anesthetics with special emphasis on the role of metabolism in the toxicity of anesthetics". Can Anaesth Soc J. 20 (1): 21–33. doi:10.1007/BF03025562. PMID 4571972.
27. ^ White AE, Stevens WC, Eger EI II, Mazze RI, Hitt BA (1979). "Enflurane and methoxyflurane metabolism at anesthetic and at subanesthetic concentrations". Anesth Analg. 58 (3): 221–224. doi:10.1213/00000539-197905000-00011. PMID 572159. S2CID 36094568.
28. ^ Strunecká A, Strunecký O, Patocka J (2002). "Fluoride plus aluminum: useful tools in laboratory investigations, but messengers of false information" (PDF). Physiol Res. 51 (6): 557–64. PMID 12511178.
29. ^ Yang H, Xing R, Liu S, Yu H, Li P (February 1, 2016). "γ-Aminobutyric acid ameliorates fluoride-induced hypothyroidism in male Kunming mice". Life Sci. 146: 1–7. doi:10.1016/j.lfs.2015.12.041. PMID 26724496.
30. ^ Camargo, Julio A. (January 2003). "Fluoride toxicity to aquatic organisms: a review". Chemosphere. 50 (3): 251–264. Bibcode:2003Chmsp..50..251C. doi:10.1016/S0045-6535(02)00498-8. PMID 12656244.
31. ^ Joseph A. Cotruvo. "Desalination Guidelines Development for Drinking Water: Background" (PDF). Retrieved January 26, 2015.
32. ^ Baez, J.; Baez, Martha X.; Marthaler, Thomas M. (2000). "Urinary fluoride excretion by children 4–6 years old in a south Texas community". Revista Panamericana de Salud Pública. 7 (4): 242–248. doi:10.1590/s1020-49892000000400005. PMID 10846927.
## External links[edit]
Classification
D
* ICD-10: T59.5
* MeSH: D005458
* DiseasesDB: 29228
External resources
* eMedicine: emerg/181
* v
* t
* e
* Poisoning
* Toxicity
* Overdose
History of poison
Inorganic
Metals
Toxic metals
* Beryllium
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* Silver
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Dietary minerals
* Chromium
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* Copper
* Iron
* Manganese
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Metalloids
* Arsenic
Nonmetals
* Sulfuric acid
* Selenium
* Chlorine
* Fluoride
Organic
Phosphorus
* Pesticides
* Aluminium phosphide
* Organophosphates
Nitrogen
* Cyanide
* Nicotine
* Nitrogen dioxide poisoning
CHO
* alcohol
* Ethanol
* Ethylene glycol
* Methanol
* Carbon monoxide
* Oxygen
* Toluene
Pharmaceutical
Drug overdoses
Nervous
* Anticholinesterase
* Aspirin
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* Benzodiazepines
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Cardiovascular
* Digoxin
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Vitamin poisoning
* Vitamin A
* Vitamin D
* Vitamin E
* Megavitamin-B6 syndrome
Biological1
Fish / seafood
* Ciguatera
* Haff disease
* Ichthyoallyeinotoxism
* Scombroid
* Shellfish poisoning
* Amnesic
* Diarrhetic
* Neurotoxic
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Other vertebrates
* amphibian venom
* Batrachotoxin
* Bombesin
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* birds / quail
* Coturnism
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Arthropods
* Arthropod bites and stings
* bee sting / bee venom
* Apamin
* Melittin
* scorpion venom
* Charybdotoxin
* spider venom
* Latrotoxin / Latrodectism
* Loxoscelism
* tick paralysis
Plants / fungi
* Cinchonism
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* Lathyrism
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* Mushrooms
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1 including venoms, toxins, foodborne illnesses.
* Category
* Commons
* WikiProject
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Fluoride toxicity
|
c0016325
| 25,361 |
wikipedia
|
https://en.wikipedia.org/wiki/Fluoride_toxicity
| 2021-01-18T18:56:58 |
{"mesh": ["D005458"], "icd-10": ["T59.5"], "wikidata": ["Q3074499"]}
|
## Clinical Features
Dolamore (1925) described a case of persistent deciduous canines with absence of permanent successors in father and son. Gruneberg (1936) described the same in 7 members of 3 generations of a German Jewish family.
Inheritance
Male-to-male transmission in the family reported by Dolamore (1925) indicates autosomal dominant inheritance.
Inheritance \- Autosomal dominant Teeth \- Absent permanent canines \- Persistent deciduous canines ▲ 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
|
CANINE TEETH, ABSENCE OF UPPER PERMANENT
|
c1861899
| 25,362 |
omim
|
https://www.omim.org/entry/114600
| 2019-09-22T16:43:54 |
{"omim": ["114600"]}
|
## Description
Autoimmune polyendocrine syndrome type II (APS2), or Schmidt syndrome, is characterized by the presence of autoimmune Addison disease in association with either autoimmune thyroid disease or type I diabetes mellitus, or both. Chronic candidiasis is not present. APS2 may occur at any age and in both sexes, but is most common in middle-aged females and is very rare in childhood (summary by Betterle et al., 2004).
See 240300 for a phenotypic description of autoimmune polyendocrine syndrome type I (APS1).
Clinical Features
Carpenter et al. (1964) reviewed the literature on Schmidt syndrome and reported 15 new cases. Of the 15, 10 also had diabetes mellitus, 13 had circulating antibodies against thyroid tissue, and 9 had antibodies against adrenal tissue.
Phair et al. (1965) reported 2 patients with diabetes mellitus in whom Addison disease and myxedema developed 3 and 16 years after the onset of diabetes, respectively. In a sib of 1 of the patients, adrenal insufficiency preceded diabetes mellitus by 15 years. In the 2 cases tested, antibodies against the adrenal were demonstrable. One also had antithyroid antibodies, and the other had antibodies against the parathyroid in spite of clinically normal parathyroid function.
Anderson et al. (1980) reported 3 brothers who were found to have Schmidt syndrome with clinically apparent adrenal and thyroid hypofunction. Age at onset ranged from 18 to 38 years. Three of their sibs, although clinically normal, had notable levels of circulating antiadrenal and antithyroid antibodies. Various other autoimmune disorders were detected in the sibship, including pernicious anemia, vitiligo, and alopecia.
Butler et al. (1984) studied an Indiana kindred in which various manifestations of Schmidt syndrome occurred over 4 generations. Features included hypo- and hyperthyroidism, insulin-dependent diabetes mellitus, Addison disease, noninsulin-dependent diabetes, and pernicious anemia.
Lechuga-Gomez et al. (1988) described a 26-year-old woman in whom APS type II was diagnosed 3 years after the acute onset of insulin-dependent diabetes mellitus.
Meyerson et al. (1988) reviewed the clinical, immunologic, and genetic features of Schmidt syndrome. Slightly over half of the patients present initially with insulin-dependent diabetes mellitus.
Schmidt syndrome can be associated with interstitial myositis, an inflammatory myopathy which can be pathologically distinguished from idiopathic polymyositis and inclusion body myositis (IBM). Heuss et al. (1995) concluded that perifascicular denervation is a characteristic feature of this interstitial myositis by virtue of exclusive perifascicular expression of the leu19 antigen.
Eisenbarth and Gottlieb (2004) compared the features of 3 autoimmune polyendocrine syndromes: autoimmune polyendocrine syndrome type I (240300), autoimmune polyendocrine syndrome type II, or Schmidt syndrome, and X-linked polyendocrinopathy with immune dysfunction and diarrhea (304790).
Mapping
Eisenbarth et al. (1978) found evidence of an association of HLA-B8 (see HLA-B, 142830) with the polyglandular failure syndrome in 3 generations of a family. The 10 unaffected individuals did not have B8, and only 1 of 7 members with B8 escaped the syndrome.
Butler et al. (1984) found no linkage between HLA-B8 and Schmidt syndrome in a 4-generation kindred.
Maclaren and Riley (1986) found that autoimmune Addison disease was strongly associated with HLA-DR3 and -DR4 (see HLA-DRA, 142860); relative risks were 6.0, 4.6, and 26.5 for DR3, DR4, and DR3/DR4, respectively. This is similar to the findings for insulin-dependent diabetes. Patients with type I autoimmune polyglandular syndrome did not show the association.
In the majority of cases, Addison disease is a component of an autoimmune polyendocrine syndrome, or APS (Gambelunghe et al., 1999). The major histocompatibility complex class I chain-related MICA (600169) and MICB (602436) genes are located on chromosome 6 between the HLA-B and the B-associated transcript (see 142560) genes. Gambelunghe et al. (1999) evaluated the association of APS2-Addison disease with both MICA and MICB gene polymorphism in 28 autoimmune (21-hydroxylase autoantibody-positive) Addison disease patients and in 75 healthy subjects from central Italy. The authors concluded that susceptibility to autoimmune Addison disease is linked to the MICA microsatellite allele 5.1 and that both MICA5.1 and HLA-DR3/DQ2 (see HLA-DQ, 146880) are necessary to confer increased genetic risk for Addison disease.
Inheritance
The transmission pattern of APS2 in the family reported by Butler et al. (1984) was consistent with autosomal dominant inheritance.
In a review, Betterle et al. (2002) noted that APS2 often occurs in many generations of the same family in an autosomal dominant pattern with incomplete penetrance.
Population Genetics
Betterle et al. (2004) stated that APS2 is a rare disorder, being described in about 1.4 to 4.5 per 100,000 individuals.
Hair \- Alopecia Eyes \- Cataracts \- Keratoconjunctivitis \- Band keratopathy Immunology \- Chronic candidiasis of mucosa, skin and nails \- Candidal granuloma \- Thymoma \- Thymic dysplasia Lab \- Association of HLA-B8 \- T-lymphocyte deficiency Inheritance \- Autosomal recessive vs. autosomal dominant or multifactorial Endocrine \- Hypothyroidism \- Hyperthyroidism \- Insulin- dependent diabetes mellitus \- Addison disease \- Adrenal failure \- Noninsulin-dependent diabetes \- Pernicious anemia \- Myxedema Neuro \- Tetany \- Seizures Resp \- Laryngitis \- Chronic pulmonary disease GI \- Pancreatic insufficiency \- Steatorrhea \- Chronic hepatitis \- Cirrhosis \- Splenic agenesis Heme \- Iron deficiency anemia ▲ 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
|
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II
|
c0085860
| 25,363 |
omim
|
https://www.omim.org/entry/269200
| 2019-09-22T16:22:28 |
{"doid": ["0050168"], "mesh": ["D016884"], "omim": ["269200"], "icd-10": ["E31.0"], "orphanet": ["3143"], "synonyms": ["Alternative titles", "SCHMIDT SYNDROME", "DIABETES MELLITUS, ADDISON DISEASE, MYXEDEMA", "POLYGLANDULAR AUTOIMMUNE SYNDROME, TYPE II", "PGA II", "POLYENDOCRINE AUTOIMMUNE SYNDROME, TYPE II", "APS II"]}
|
## Description
Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).
For a discussion of genetic heterogeneity of cutaneous malignant melanoma (CMM), see 155600.
Mapping
It is estimated that 10% of CMM cases have an inherited predisposition. Although mutations in 2 genes, CDKN2A (600160) and CDK4 (123829), confer an increased risk of CMM, they account for only 20 to 25% of families with multiple cases of CMM. To localize additional loci involved in CMM susceptibility, Gillanders et al. (2003) performed a genomewide scan for linkage in 49 Australian pedigrees containing at least 3 CMM cases in which CDKN2A and CDK4 involvement had been excluded. The highest 2-point parametric lod score, 1.82 at theta of 0.2, was obtained at D1S2726, which maps to chromosome 1p22. A parametric lod score of 4.65 at theta of 0.0 and a nonparametric lod score of 4.19 were found at D1S2779 in 9 families selected for early age of onset. Additional typing yielded 7 adjacent markers with lod scores greater than 3 in this subset. Analysis of 33 additional multiplex families with CMM from several continents provided further evidence for linkage to the 1p22 region, again strongest in families with the earliest mean age at diagnosis. The highest lod score, 6.43, was obtained at D1S2779 and occurred when the 15 families with the earliest stages of onset were included. Gillanders et al. (2003) concluded that a novel CMM susceptibility locus, designated CMM4, is located at chromosome 1p22.
Critical recombinants in linked families studied by Gillanders et al. (2003) localized the CMM4 locus to a 15-Mb region between D1S430 and D1S2664. To map the locus more finely, Walker et al. (2004) performed studies to assess allelic loss across the region in a panel of melanomas from 1p22-linked families, sporadic melanomas, and melanoma cell lines. In 80% of familial melanomas they found loss of heterozygosity (LOH) within the region, with the smallest region of overlapping deletions (SRO) between D1S207 and D1S435, a region of approximately 9 Mb. From this high frequency of LOH, Walker et al. (2004) concluded that the susceptibility locus is a tumor suppressor.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4
|
c2314896
| 25,364 |
omim
|
https://www.omim.org/entry/608035
| 2019-09-22T16:08:25 |
{"doid": ["8923"], "omim": ["608035"], "orphanet": ["618"]}
|
A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.
## Epidemiology
Annual incidence is estimated at around 1/1,000,000. The syndrome affects males and females equally.
## Clinical description
AD-HIES typically first manifests with neonatal rash but it affects the immune system, connective tissue, skeleton, and dental development, with variations in severity. Eczema, recurrent skin abscesses, pneumonia with pneumatocele formation, mucocutaneous candidiasis, elevated serum IgE levels, and eosinophilia are the most common features of immune deficiency/dysregulation. Severe recurrent respiratory infections that may lead to chronic respiratory insufficiency are frequent. A distinctive facial appearance is described (rough skin, facial asymmetry, a prominent forehead, deep-set eyes, broad nasal bridge and a fleshy nasal tip, prognathism), along with midline anomalies. Recurrent pathological fractures occur in about 50% of patients (long bones and ribs). Scoliosis of varying degrees of severity is seen in more than 60%. Anomalies of dentinogenesis are a consistent feature. Reduced resorption of primary tooth roots may lead to prolonged retention of primary teeth, which in turn prevents the appropriate eruption of permanent teeth. Vascular features (coronary and aortic aneurysms, thrombosis of the cerebellar artery and congenital patent ductus venosus) have also been reported. Ocular complications may include xanthelasmas, giant chalasias, eyelid nodules, strabismus, and retinal detachment with complicated cataracts. There is also an increased risk of autoimmune and lymphoproliferative diseases.
## Etiology
In 70% of patients, the phenotype is associated with heterozygous mutations of the signal transducer and activator of transcription 3 gene (STAT3; 17q21.31). STAT3 plays a key role in the signal transduction of a broad range of cytokines (control of infections caused by fungi and extracellular bacteria). The etiology in the remaining 30% is unknown.
## Diagnostic methods
The diagnostic hallmark is increased serum immunoglobulin E (IgE) levels exceeding 2000 U/ml, often higher than 5000 U/ml. A clinical scoring sheet has been defined to assess the probability of diagnosis. Total IgE concentration > 1000 IU/ml and weighted score of clinical features > 30 indicates AD-HIES due to STAT3 deficiency, and a dominant-negative heterozygous mutation in STAT3 provides a definitive diagnosis.
## Differential diagnosis
The differential diagnosis should include cystic fibrosis and chronic granulomatous disease (see these terms), as well as severe atopic dermatitis and HIV-infection. A clinically distinct autosomal recessive hyper-IgE syndrome has also been described (AR-HIES; see this term).
## Antenatal diagnosis
Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutation in the family is known.
## Genetic counseling
The majority of AD-HIES cases are caused by de novo mutations and are therefore sporadic but autosomal dominant transmission is characteristic for STAT3 mutations.
## Management and treatment
The therapeutic approach involves prevention and management of infections with long-term administration of systemic antibiotics and antifungals. Lung abscesses may require surgery but possible complications require close attention. The role of hematopoietic stem cell transplantation (HSCT) has to be evaluated further.
## Prognosis
Although HIES is associated with significant morbidity and mortality, adequate care, close monitoring, and patient compliance improve the prognosis and can lead to survival of 50 years of age or over.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Autosomal dominant hyper-IgE syndrome
|
c2936739
| 25,365 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2314
| 2021-01-23T18:32:59 |
{"gard": ["6800"], "mesh": ["D007589"], "omim": ["147060"], "umls": ["C2936739", "C3489795", "C3887645"], "icd-10": ["D82.4"], "synonyms": ["AD-HIES", "Autosomal dominant HIES", "Autosomal dominant hyperimmunoglobulin E syndrome", "Buckley syndrome", "Hyperimmunoglobulin E syndrome type 1", "Hyperimmunoglobulin E-recurrent infection syndrome", "Job syndrome", "STAT3 deficiency"]}
|
A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-2C (CMD2C) is caused by homozygous or compound heterozygous mutation in the PPCS gene (609853) on chromosome 1p34.
Description
CMD2C is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years. Affected individuals exhibit reduction in coenzyme A (CoA) levels. Some severely affected children die in the first few years of life (Iuso et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy (CMD), see 115200.
Clinical Features
Iuso et al. (2018) studied a consanguineous Arab Muslim family (family B) in which 4 sibs had dilated cardiomyopathy of variable severity. The oldest sib presented at age 2 years with asthma-like symptoms, but was diagnosed with CMD only at age 20 years, at which time he had an ejection fraction (EF) of 44%. Cardiac MRI/MRA showed a mildly dilated left ventricle (LV), with moderate to severe decrease in function of both ventricles. His 10-year-old brother presented at 4 months of age with hypovolemic shock and seizures after 2 days of vomiting. Echocardiogram showed LV contractility in the low-normal range and a small patent ductus arteriosus. Cardiac MRI/MRA at age 10 years showed dilated LV with moderately decreased function (EF, 37%). Two younger sibs had normal echocardiograms in the first year of life, but presented with severe dilated cardiomyopathy at ages 2 years and 3 years, respectively, and died despite intensive treatment.
### Clinical Variability
Iuso et al. (2018) reported a German girl, born to healthy nonconsanguineous parents (family A), who presented in the first few hours after birth with oxygen desaturation and bradycardia and required ventilatory support. She had severe muscular hypotonia as well as minor dysmorphic features, including cutis laxa, abnormally placed thumbs, abnormal dermatoglyphics, hypoplastic labia minora, and hypoplastic toenails. Over the course of several hospitalizations, evaluation revealed severe dilated cardiomyopathy and pulmonary artery hypertension. She died of multiorgan failure at 3 months of age.
Clinical Management
Iuso et al. (2018) provided oral pantethine supplementation to 2 affected brothers from a consanguineous Arab Muslim family (family B) with dilated cardiomyopathy due to a homozygous missense mutation in the PPCS gene (see MOLECULAR GENETICS). The 20-year-old brother showed mild improvement in exertional dyspnea, with increase in EF from 36 to 48%. His 10-year-old brother remained stable on treatment, with symptoms of heart failure upon exertion and an EF of 45%. The authors suggested that treatment earlier in the clinical course might result in more significant improvement.
Molecular Genetics
By whole-exome sequencing (WES) in a consanguineous Arab-Muslim family (family B) in which 4 sibs had CMD, Iuso et al. (2018) identified homozygosity for a missense mutation in the PPCS gene (E233V; 609853.0001) that segregated fully with disease and was not found in the gnomAD database. WES in a German girl (family A) who died at age 3 months with severe cardiomyopathy, muscular hypotonia, and dysmorphic features, revealed compound heterozygosity for a missense mutation (A180P; 609853.0002) and a 15-bp deletion (609853.0003) in the PPCS gene. Biochemical analysis showed a significant reduction in CoA levels in fibroblasts from all affected individuals, which was rescued by reintroducing wildtype PPCS. The lowest level of CoA was observed in the German girl, who also exhibited extracardiac features; the authors suggested that the presence of the completely inactive A180P PPCS allele, as shown in yeast viability studies, determined the more severe phenotype in that patient.
INHERITANCE \- Autosomal recessive CARDIOVASCULAR Heart \- Dilated cardiomyopathy \- Increased left ventricular end-diastolic volume \- Reduced left ventricular contractility \- Reduced ejection fraction Vascular \- Pulmonary artery hypertension METABOLIC FEATURES \- Low coenzyme A levels in patient fibroblasts \- Normal serum levels of free carnitine \- Relatively low levels of long chain acylcarnitines (C16, C18) \- Normal serum levels of pantothenic acid LABORATORY ABNORMALITIES \- Elevated serum lactate MISCELLANEOUS \- Onset within first few years of life \- Variable severity \- Fatal in some children \- Severe muscular hypotonia and dysmorphic features were also reported in 1 patient MOLECULAR BASIS \- Caused by mutation in the phosphopantothenoylcysteine synthetase gene (PPCS, 609853.0001 ) ▲ 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
|
CARDIOMYOPATHY, DILATED, 2C
|
c0340427
| 25,366 |
omim
|
https://www.omim.org/entry/618189
| 2019-09-22T15:43:11 |
{"mesh": ["C536231"], "omim": ["618189"], "orphanet": ["154"]}
|
## Clinical Features
Machin et al. (1987) described a fetus with laryngeal atresia and anterior encephalocele and limb deformities including flexion deformities of the wrists and hips, bilateral syndactyly of the fingers, and bilateral camptodactyly of the toes. In addition, the baby had a horseshoe kidney.
Kalache et al. (2001) described a fetus with features similar to those found by Machin et al. (1987), including an anterior encephalocele with a bony defect of the frontal bones and parietal bones, laryngeal atresia due to a cartilaginous plug occluding the larynx, and bilateral radial aplasia with a short right humerus and 3 metacarpals but only 2 sets of phalanges, resulting in 2-fingered hands on both sides. There was bilateral tibial aplasia and the feet had 5 metatarsals on the right and 4 on the left. Five phalanges were present on the right but only 2 on the left. There was syndactyly of all 4 toes on the right and the first 2 on the left. In addition, there were short palpebral fissures. The pancreas was enlarged. Gross examination of the brain showed an unlayered cortex suggesting agyria. Kalache et al. (2001) suggested that the similarities between their case and that of Machin et al. (1987) justified the combination of laryngeal atresia, anterior encephalocele, and limb anomalies into a recognizable spectrum of anomalies.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
LARYNGEAL ATRESIA, ENCEPHALOCELE, AND LIMB DEFORMITIES
|
c1846721
| 25,367 |
omim
|
https://www.omim.org/entry/607132
| 2019-09-22T16:09:40 |
{"mesh": ["C564620"], "omim": ["607132"], "synonyms": ["Alternative titles", "LEL"]}
|
A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-5 (CSS5) is caused by heterozygous mutation in the SMARCE1 gene (603111) on chromosome 17q21.
Description
Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
Clinical Features
Wieczorek et al. (2013) reported a 3-year-old girl (patient K2442) with Coffin-Siris syndrome. She had delayed psychomotor development with intellectual disability and absent speech, poor overall growth with short stature and microcephaly (-4.6 SD), and dysmorphic facial features, including coarse facies, low frontal hairline, thick eyebrows, long eyelashes, flat nasal bridge, broad nose with thick anteverted nares, large mouth, thick lower vermilion, short philtrum, abnormal ears, and sparse scalp hair. Additional features included hypoplasia of the distal phalanges with nail hypoplasia, atrial septal defect, and dextropositio cordis. Brain imaging showed small cerebellum, Dandy-Walker malformation, and abnormal corpus callosum. Wieczorek et al. (2013) reviewed the clinical features in a patient with CSS5 originally reported by Tsurusaki et al. (2012): that patient also had severe intellectual disability, the typical craniofacial gestalt, microcephaly, short stature, feeding difficulties, and congenital heart defects. Both patients had long and slender fingers and all toenails were dystrophic and hypoplastic. One of the patients had seizures.
Molecular Genetics
In a Japanese patient with CSS5, Tsurusaki et al. (2012) identified a de novo heterozygous missense mutation in the SMARCE1 gene (Y73C; 603111.0001). The mutation was found by exome sequencing; functional studies of the variant were not performed.
Wieczorek et al. (2013) identified a de novo heterozygous missense mutation affecting the same codon as the mutation identified by Tsurusaki et al. (2012) (Y73S; 603111.0006) in a 3-year-old girl with CSS5. The mutation was found by whole-exome sequencing; functional studies of the variant were not performed. The patient was 1 of 46 individuals with a clinical diagnosis of CSS who underwent sequencing, suggesting that SMARCE1 mutations are not common in this disorder.
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature Other \- Intrauterine growth retardation \- Poor overall growth HEAD & NECK Head \- Microcephaly Face \- Coarse facial features Ears \- Abnormal ears Eyes \- Thick eyebrows \- Long eyelashes Nose \- Broad nose \- Flat nasal bridge \- Thick anteverted alae nasi Mouth \- Large mouth \- Thin upper vermilion \- Thick lower vermilion CARDIOVASCULAR Heart \- Congenital heart defect \- Atrial septal defect ABDOMEN Gastrointestinal \- Poor feeding SKELETAL Hands \- Long, slender fingers \- Hypoplasia of the distal phalanges Feet \- Hypoplasia of the distal phalanges SKIN, NAILS, & HAIR Nails \- Hypoplastic toenails \- Dystrophic toenails Hair \- Low frontal hairline \- Sparse scalp hair NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Intellectual disability \- Seizures (1 patient) \- Cerebellar hypoplasia \- Hypoplasia of the corpus callosum \- Dandy-Walker malformation MISCELLANEOUS \- Two unrelated patients have been reported (last curated May 2016) MOLECULAR BASIS \- Caused by mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily E, member 1 gene (SMARCE1, 603111.0001 ) ▲ 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
|
COFFIN-SIRIS SYNDROME 5
|
c0265338
| 25,368 |
omim
|
https://www.omim.org/entry/616938
| 2019-09-22T15:47:27 |
{"mesh": ["C536436"], "omim": ["616938"], "orphanet": ["1465"]}
|
A rare autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma.
## Epidemiology
Estimated prevalence varies geographically: 1/5,000 in the USA, about 1/3,000 in the UK in adults. Adult-onset represents 85-90% of MG forms in Europe and USA. The male:female sex ratio is 1:3 in patients below 40 years of age, equal in those aged 40 to 50, and about 1.5:1 in elderly patients.
## Clinical description
Patients typically present with ocular symptoms, specifically diplopia and unilateral or bilateral ptosis. About 15% of patients with ocular signs do not progress to generalized myasthenia. Within 2 to 3 years of initial manifestations, a majority of patients (about 80%) develop generalized fluctuating muscle weakness, worsening with exertion and improving with rest. Symptoms, often exacerbated at the end of the day, include fatigue, dysphagia, dysphonia, exertional dyspnea or orthopnea; in severe cases difficulty chewing, choking, and nasal regurgitation may be observed. Upper limb weakness is more common than lower limb weakness. Head drop, expressionless face, and neck pain may also be found. In severe cases, a myasthenic crisis may develop, involving acute respiratory failure requiring mechanical ventilation and nasogastric tube feeding. Myasthenic crisis occurs in about 20% of affected patients, mainly in the absence of treatment. 10-15% of patients have associated thymoma, which is malignant in most cases, and more than 50% of young patients (especially females) present a thymic follicular hyperplasia.
## Etiology
The exact pathogenesis is not known, but MG is mediated by circulating antibodies to various muscle receptors, including acetylcholine receptor (AChR), muscle-specific receptor tyrosine kinase (MuSK), and low density lipoprotein receptor-related protein 4 (LRP4). The thymus is thought to trigger antibody production in the form with anti-AChR antibodies. The disorder can also be drug-induced.
## Diagnostic methods
The diagnosis is suspected on the basis of fluctuating muscle weakness. A thorough history to identify this pattern is essential. Easy fatigability is a classic sign. Applying ice to the eye in patients with ptosis (ice test) leads to improvement of the condition in most patients. The diagnosis can be confirmed through specific laboratory tests for antibodies to AChR or to MuSK, present in 85% and about 6% of patients, respectively. Some patients display antibodies to LRP4. Antibody-negative cases are however found. Radiography, computed tomography (CT) or magnetic resonance imaging (MRI) are required to detect thymoma or thymic follicular hyperplasia.
## Differential diagnosis
Differential diagnoses include congenital MG, Lambert-Eaton myasthenic syndrome, ALS, mitochondrial myopathy, botulism and polymyositis (see these terms).
## Management and treatment
The vast majority of MG patients respond well to treatment. A wide range of drugs can be used to control the disease symptoms and to suppress autoimmune response. These include acetylcholinesterase inhibitors (patients with AChR antibodies), immunosuppressants such as oral steroids, azathioprine, mycophenolate mofetil, methotrexate, and tacrolimus. Ciclosporin and cyclophosphamide have been used, as well as rituximab in severe cases. Myasthenic crisis and rapid deterioration can be treated with intravenous immunoglobulins (IVIg) and plasmapheresis. Thymectomy is indicated for young patients with anti-AChR antibodies, and for patients with thymoma.
## Prognosis
The natural course of MG is gradual improvement but rare severe cases may be life-threatening. The overall prognosis with treatment is however excellent.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Adult-onset myasthenia gravis
|
None
| 25,369 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=391490
| 2021-01-23T18:16:54 |
{"icd-10": ["G70.0"], "synonyms": ["Adult-onset acquired myasthenia", "Adult-onset autoimmune myasthenia gravis"]}
|
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Spastic paraplegia-nephritis-deafness syndrome
|
c2931667
| 25,370 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2820
| 2021-01-23T18:16:40 |
{"gard": ["2342"], "mesh": ["C537937"], "omim": ["182690"], "umls": ["C2931667"], "synonyms": ["Fitzsimmons-Walson-Mellor syndrome", "Spastic paraplegia-nephritis-hearing loss syndrome"]}
|
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Low frustration tolerance" – news · newspapers · books · scholar · JSTOR (December 2016) (Learn how and when to remove this template message)
Low frustration tolerance (LFT), or "short-term hedonism," is a concept utilized to describe the inability to tolerate unpleasant feelings or stressful situations. It stems from the feeling that reality should be as wished, and that any frustration should be resolved quickly and easily. People with low frustration tolerance experience emotional disturbance when frustrations are not quickly resolved.[1] Behaviors are then directed towards avoiding frustrating events which, paradoxically, leads to increased frustration and even greater mental stress.
In REBT, the opposite construct is "high frustration tolerance".
## Contents
* 1 History
* 2 Types of hedonism
* 3 Stress
* 4 Implications
* 5 Reducing LFT
* 6 LFT Scale
* 7 Increasing tolerance
* 8 See also
* 9 References
* 10 External links
## History[edit]
The concept was originally developed by psychologist Albert Ellis who theorized that low frustration tolerance is an evaluative component in dysfunctional and irrational beliefs. His theory of REBT proposes that irrational beliefs and the avoidance of stressful situations is the origin of behavioral and emotional problems. As humans, we tend to seek for instant gratification to avoid pain, ignoring the fact that evading a situation now, will make it more problematic later.[1]
## Types of hedonism[edit]
* Inferential hedonism: People's desires are regarding their own hedonic states of pleasure and pain.
* Reinforcement Hedonism: The content of a person's desire, is reinforced because of the pleasure that imagining the specific desire brings.[2]
## Stress[edit]
According to REBT, the way we perceive stressful situations plays a role in how we experience stress. Stress exists as part of the nervous system of humans, and it affects humans' well-being when the degree of stress exceeds their capacity of managing the situation either temporarily or permanently.[1]
## Implications[edit]
LFT has been suggested as a main cause of procrastination. According to Dr. Sarah Edelman, LFT causes us to avoid difficult to endure situations and sometimes to avoid them altogether. This can be a problem because 'achieving many of the things that are important and worthwhile requires us to take actions that involve some discomfort.'[3] Avoiding difficult situations and tasks can also prevent us from dealing constructively with problems, such as ending unpleasant relationships, improving unhealthy lifestyles, and moving on from dissatisfying jobs. Moreover, tasks perceived as boring, difficult or demanding of greater effort, are said to make a person more likely to procrastinate.[4]
## Reducing LFT[edit]
In REBT, reducing irrational beliefs and increasing rational beliefs can reduce LFT. This cognitive restructuring allows a modification of dysfunctional thinking and acting, and allows people to change thoughts of great distress like:
* "Existing conditions must be changed to give me what I like, otherwise I can't stand it and I can't be happy at all!"
* "I must have immediate gratification and have to have it, or else I can't stand it and my life is awful"
* "I can't stand hassles"
Into more rational and less exaggerated thoughts like:
* "I don't like existing conditions"
* "I would like immediate gratification"
* "I find hassles and frustrations inconvenient"[1]
## LFT Scale[edit]
The frustration discomfort scale (FDS), a multidimensional measure for LFT, was developed using REBT theories. These dimensions were labelled in four categories:[5]
1. Emotional intolerance, involving intolerance of emotional distress.
2. Entitlement, involving intolerance of unfairness and frustrated gratification.
3. Discomfort intolerance, involving intolerance of difficulties and hassles.
4. Achievement, involving intolerance of frustrated achievement goals.
## Increasing tolerance[edit]
Ellis said the path to tolerance consisted of many roads, including unconditional self-acceptance, unconditional other-acceptance and unconditional life-acceptance.[6]
## See also[edit]
* Frustration–aggression hypothesis
## References[edit]
1. ^ a b c d Ellis, Albert; Gordon, Jack; Neenan, Michael (2001). SAGE Books - Stress Counselling: A Rational Emotive Behaviour Approach. doi:10.4135/9781446217696. ISBN 9780826455987.
2. ^ Justin, Garson (2015). "Two types of psychological hedonism". Studies in History and Philosophy of Biological and Biomedical Sciences: 7–14.
3. ^ Edelman, Sarah (2002). Change your thinking : positive and practical ways to overcome stress, negative emotions and self-defeating behaviour using CBT. Sydney: ABC Books. ISBN 978-0733310188.
4. ^ Harrington, Neil (2005). "It's too difficult! Frustration intolerance beliefs and procrastination". Personality and Individual Differences. 39 (5): 873–883. doi:10.1016/j.paid.2004.12.018.
5. ^ Harrington, Neil (2005). "The Frustration Discomfort Scale: Development and Psychometric Properties". Clinical Psychology & Psychotherapy. 12 (5): 374–387. doi:10.1002/cpp.465.
6. ^ The Road To Tolerance, Albert Ellis, 2004, Prometheus Books, Conclusion (p211)
## External links[edit]
* REBT Network -- Albert Ellis and Rational Emotive Behavior Therapy
* The Albert Ellis Institute
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Low frustration tolerance
|
c0548883
| 25,371 |
wikipedia
|
https://en.wikipedia.org/wiki/Low_frustration_tolerance
| 2021-01-18T19:01:00 |
{"umls": ["C0548883"], "wikidata": ["Q3054130"]}
|
Clear cell renal cell carcinoma is a cancer of the kidney. The name "clear cell" refers to the appearance of the cancer cells when viewed with a microscope.[5258] Clear cell renal cell carcinoma occurs when cells in the kidney quickly increase in number, creating a lump (mass). Though the exact cause of clear cell renal cell carcinoma is unknown, smoking, the excessive use of certain medications, and several genetic predisposition conditions (such as von Hippel Lindau syndrome) may contribute to the development of this type of cancer. Treatment often begins with surgery to remove as much of the cancer as possible, and may be followed by radiation therapy, chemotherapy, biological therapy, or targeted therapy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Clear cell renal cell carcinoma
|
c0279702
| 25,372 |
gard
|
https://rarediseases.info.nih.gov/diseases/9574/clear-cell-renal-cell-carcinoma
| 2021-01-18T18:01:16 |
{"mesh": ["D002292"], "synonyms": ["Clear cell RCC", "Cystic-multilocular variant", "Clear-cell metastatic renal cell carcinoma (subtype)"]}
|
Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Multifocal choroiditis
|
c1533060
| 25,373 |
gard
|
https://rarediseases.info.nih.gov/diseases/9824/multifocal-choroiditis
| 2021-01-18T17:58:55 |
{"mesh": ["C537374"], "umls": ["C1533060"], "synonyms": []}
|
Klatskin tumor is an extra-hepatic cholangiocarcinoma (CCA, see this term) arising in the junction of the main right or left hepatic ducts to form the common hepatic duct.
## Epidemiology
The prevalence is unknown.
## Clinical description
Klatskin tumors occur in the hepatic duct bifurcation, usually presenting in the 5th to 7th decade of life and are seen slightly more frequently in males (1.3:1 male to female ratio). Patients are usually asymptomatic until advanced stages of the disease where jaundice is the principle manifestation. Abdominal pain, weight loss and malaise are other manifestations experienced by some patients. Metastasis to regional lymph nodes is frequent. It can spread from the pericholedochal nodes in the hepatoduodenal ligament to the posteriorsuperior area around the pancreatic head, common hepatic artery and portal vein.
## Etiology
In 90% of cases Klatskin tumors occur sporadically but certain risk factors have been associated with the disease. Risk factors include primary sclerosing cholangitis (see this term), secondary sclerosing cholangitis, chronic typhoid carriage, parasitic infections (with Opisthochis viverrini and Clonorchis sinensis), exposure to thorotrast (x-ray contrast medium) and choledochal cysts, all of which cause chronic biliary inflammation.
## Diagnostic methods
Diagnosis is suspected on clinical and laboratory findings. Serum carbohydrate antigen (CA) 19-9 is a glycoprotein tumor marker found to be elevated in most cases of Klatskin tumors. Increased levels of alkaline phosphate (ALP), conjugated bilirubin and gamma-glutamyl transpeptidase (GGT) are also noted. Abdominal imaging, visualization of the biliary tree and biopsies of the lesion are necessary to make the diagnosis. Endosonography (EUS) guided fine needle aspiration (FNA) of hilar lymph nodes is the most useful tool in the diagnosis and staging of Klatskin tumors. Brush cytology and percutaneous biopsies have a low sensitivity for diagnosis. Ultrasound, and contrast enhanced helical computerized computed tomography (CT) can be used in visualizing the extent of disease.
## Differential diagnosis
Autoimmune cholangitis and primary biliary non-Hodgkin's lymphoma are differential diagnoses of Klatskin tumors.
## Management and treatment
Relief of biliary blockage and resection of disease are the main goals of treatment. As Klatskin tumors are typically resistant to chemotherapy and radiotherapy, surgical resection of the tumor is the only curative treatment but it is not always an option in those patients with widespread metastasis. Surgical resection involves a liver resection with caudate lobectomy in order to achieve a higher chance of negative resection margins. Palliative treatment involves the placement of plastic or metallic biliary stents. Percutaneous transhepatic catheters provide the best access for palliation of inoperable Klatskin tumors. Unresectable Klatskin tumors are treated with radiotherapy and/or chemotherapy. Gemcitabine combined with cisplatin therapy has been recognized as a standard treatment for unresectable biliary tract cancers including Klatskin tumors.
## Prognosis
As Klatskin tumors are often only discovered at an advanced stage, the prognosis is quite poor with five year survival rates after surgery ranging from 25-30% and 0% in unresectable tumors.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Klatskin tumor
|
c0206702
| 25,374 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99978
| 2021-01-23T18:29:40 |
{"gard": ["10175"], "mesh": ["D018285"], "umls": ["C0206702"], "icd-10": ["C24.0"], "synonyms": ["Hilar CCA", "Hilar cholangiocarcinoma"]}
|
A number sign (#) is used with this entry because X-linked periventricular heterotopia (PVNH1) is caused by mutation in the gene encoding filamin-A (FLNA; 300017) on chromosome Xq28.
Description
Periventricular nodular heterotopia is a disorder of neuronal migration in which neurons fail to migrate appropriately from the ventricular zone to the cortex during development, resulting in the formation of nodular brain tissue lining the ventricles. Most affected individuals with the X-linked form are female, while hemizygous males tend to die in utero. Affected females usually present with epilepsy, but have normal intelligence. Additional features include defects of the cardiovascular system, such as patent ductus arteriosus, bicuspid aortic valve, and dilation of the sinuses of Valsalva or the thoracic aorta (summary by Fox et al., 1998). Several patients with PVNH and mutations in the FLNA gene have been reported with a spectrum of connective tissue abnormalities characterized by combinations of vascular, cardiac, cutaneous, and joint-related symptoms (summary by Reinstein et al., 2013).
### Genetic Heterogeneity of Periventricular Nodular Heterotopia
Periventricular nodular heterotopia is a genetically heterogeneous condition: see also PVNH2 (608097), caused by mutation in the ARFGEF2 gene (605371) on chromosome 20q13; PVNH3 (608098), associated with anomalies of 5p; PVNH5 (612881), associated with deletions of chromosome 5q; PVNH6 (615544), caused by mutation in the ERMARD gene (615532) on chromosome 6q27; PVNH7 (617201), caused by mutation in the NEDD4L gene (606384) on chromosome 18q21; and PVNH8 (618185), caused by mutation in the ARF1 gene (103180) on chromosome 1q42.
The form of PVNH that was previously designated the Ehlers-Danlos variant (PVNH4) is now considered to be the same as X-linked PVNH1.
Clinical Features
Kamuro and Tenokuchi (1993) described periventricular heterotopic nodules in a 13-year-old girl, her 34-year-old mother, and her 60-year-old grandmother. The mother had suffered from epileptic seizures since she was 15 years old, but the daughter and grandmother were seizure-free. All 3 showed multiple uncalcified nodules on the lateral ventricular walls on CT. On magnetic resonance imaging (MRI), the intensity of the nodules were the same as that of the cerebral gray matter, suggesting heterotopia, and no other cerebral abnormalities were observed. Extensive examinations failed to show signs of tuberous sclerosis (191100). Kamuro and Tenokuchi (1993) suggested that periventricular nodular heterotopia in this family represented a unique form of migration disorder inherited as a dominant. In a Japanese family, Oda et al. (1993) described a mother and 2 daughters, half sisters, in whom MRI demonstrated multiple bilateral subependymal nodules that were of the same intensity as gray matter. The mother and the younger of the 2 sisters had seizures. None of the patients showed signs of tuberous sclerosis.
The confusion of bilateral periventricular nodular heterotopia with tuberous sclerosis was indicated by the cases reported by Jardine et al. (1996). Tuberous sclerosis was the initial diagnosis in a mother and daughter. The daughter presented with partial seizures at the age of 8 months. CT showed uncalcified periventricular nodules, which on MRI were ovoid, almost contiguous, of gray matter density, and did not enhance with gadolinium. Brain imaging of the asymptomatic mother yielded similar results. Absence of severe mental retardation, extracranial hamartomas, and depigmented patches distinguishes familial bilateral periventricular nodular heterotopia from tuberous sclerosis. Jardine et al. (1996) used the symbol FNH for this disorder and suggested that it is inherited as an X-linked dominant with lethality in males. This was based on the fact that 16 females from 5 families had been reported. Partial and secondary generalized seizures were the most common presenting feature, although some affected adults were seizure free. Seizures starting in infancy had not been reported before the report by Jardine et al. (1996).
Eksioglu et al. (1996) discussed the genetics and biology of this disorder, which can be diagnosed unambiguously on MRI. The lesions form continuous bands throughout the periventricular region, and may appear as beads on a string. Histologic studies revealed that the nodules consist of highly differentiated neurons oriented in multiple directions that have failed to migrate into the developing cerebral cortex. Remarkably, most females with the disorder show normal intelligence but suffer from seizures and various extra-CNS manifestations, especially relating to the vascular system.
Puche et al. (1998) identified a family in which the mother had epilepsy and the oldest daughter had epilepsy and mental retardation. Both patients showed subcortical laminar heterotopia on MRI. The youngest son presented a severe encephalopathy with early-onset seizures, and was found to have lissencephaly on MRI.
Using PET and fMRI imaging to study a woman with genetically confirmed PVNH1, Lange et al. (2004) found that the ectopic nodular periventricular cortical tissue was functionally active and integrated into motor circuits.
Jefferies et al. (2010) reported an 18-month-old girl with periventricular nodular heterotopia who also had mild cardiac defects. Echocardiogram showed a redundant and unobstructed pulmonary valve, a cleft in the anterior leaflet of the mitral valve with mitral regurgitation, and a patent foramen ovale with mild left-to-right shunting. There was no evidence of a persistent patent ductus arteriosus. Genetic analysis identified a heterozygous truncating mutation in the FLNA gene (W2632X; 300017.0034). Jefferies et al. (2010) noted that other cardiac defects, such as patent ductus arteriosus, bicuspid aortic valve, and dilation of the sinuses of Valsalva, had been reported in patients with X-linked periventricular heterotopia, and that myxomatous valvular disease (XMVD; 314400) was also associated with FLNA mutations, but emphasized that the findings in this patient had not previously been reported.
A relationship between Ehlers-Danlos syndrome (EDS; see 130000) and periventricular heterotopia was suggested by 2 single-case reports (Cupo et al., 1981; Thomas et al., 1996). In both instances the affected females showed focal seizures, irregular collagen fibrils, and aneurysms of the sinuses of Valsalva. Agenesis of the posterior corpus callosum, enlarged cisterna magna, panacinar emphysema, and myocardial infarction were observed in either one but not both individuals. Sheen et al. (2005) pointed out that many of the same clinical and radiologic features seen in these 2 case reports can sometimes be encountered in X-linked PVNH due to FLNA mutations. For example, most individuals with known FLNA mutations are female, present with seizures, and more variably, have vascular anomalies including aortic aneurysm, patent ductus arteriosus, and bicuspid aortic valve.
Sheen et al. (2005) reported 2 familial cases and 9 sporadic cases of periventricular heterotopia with the additional features of joint hypermobility and the development of aortic dilatation in early adulthood. MRI typically demonstrated bilateral PVNH, indistinguishable from the PVNH due to FLNA mutations.
Reinstein et al. (2013) reported a cohort of 11 males and females with both hypomorphic and null mutations in the FLNA gene who manifested a wide spectrum of connective tissue and vascular anomalies that was broader than that previously described. They suggested that these anomalies are not part of a separate entity (previously designated an Ehlers-Danlos variant of PVNH) but variable expressions of PVNH1 for which all patients with this disorder should be evaluated.
### Periventricular Nodular Heterotopia With Frontometaphyseal Dysplasia
In a girl with PVNH in combination with frontometaphyseal dysplasia (304120), a skeletal dysplasia of the otopalatodigital (OPD) spectrum, Zenker et al. (2004) identified a de novo 7315C-A transversion in exon 45 of the FLNA gene (300017.0014), resulting in 2 aberrant transcripts. Zenker et al. (2004) proposed that the dual phenotype was caused by 2 functionally different, aberrant filamin A proteins and therefore represented an exceptional case of allelic gain-of-function and loss-of-function phenotypes due to a single mutation event.
### Affected Males
Most patients with bilateral periventricular nodular heterotopia (BPNH) are female and have epilepsy as a sole clinical manifestation of their disease. Males with PVNH are rare and may present with mental retardation and congenital anomalies in addition to epilepsy. The disorder in 3 boys with PVNH, cerebellar hypoplasia, severe mental retardation, epilepsy, and syndactyly was designated the BPNH/MR syndrome (Fink et al., 1997).
Guerrini and Dobyns (1998) described a 'new' syndrome of BPNH with frontonasal malformation and mild mental retardation in 2 unrelated boys, aged 8 and 5.5 years. Both had a broad nasal root, hypertelorism, and a widow's peak. The 5.5-year-old patient had several additional features of Aarskog syndrome (100050), including shawl scrotum and cryptorchidism. The combination of widow's peak and shawl scrotum has also been reported in autosomal dominant Teebi hypertelorism (145420), autosomal recessive Aarskog-like faciodigitogenital syndrome (227330), and X-linked Aarskog-Scott syndrome (305400). Mild mental retardation is infrequently found in frontonasal dysplasia (136760), as is micropenis, which was present in the 5.5-year-old patient of Guerrini and Dobyns (1998). In addition to their novel BPNH/frontonasal dysplasia syndrome and the previously reported BPNH/MR syndrome, Guerrini and Dobyns (1998) referred to the association of BPNH with congenital nephrosis (251300), with short gut and intestinal malrotation (Nezelof et al., 1976), and with agenesis of the corpus callosum (Vles et al. (1990, 1993)).
Guerrini et al. (2004) reported 4 families in which males were affected by PVNH caused by FLN1 mutations. In 2 families, missense mutations causing mild phenotypes were transmitted from a mother to son and from a father to daughter, respectively. Both mutations occurred in nonconserved residues. One patient was a 3-year-old boy with mildly delayed milestones, bilateral nodules, cerebellar hypoplasia, and patent ductus arteriosus. In the second family, the proband was a 49-year-old Japanese man with normal cognition who developed seizures at age 38 years. Brain MRI showed an isolated unilateral nodule, and cardiovascular examination showed aortic insufficiency. Interestingly, his affected daughter had a more severe phenotype. In a third family, an affected man was somatic mosaic for the FLN1 mutation, and in a fourth family, a truncating mutation led to early postnatal death in a boy. The man with somatic mosaicism had borderline cognition, bilateral nodules, seizures and aortic aneurysm; he did not transmit the mutation to his daughter. The findings indicated that PVNH in men caused by FLN1 mutations can occur with variable severity and results from different genetic mechanisms.
Inheritance
X-linked periventricular heterotopia is inherited in an X-linked dominant pattern. Eksioglu et al. (1996) noted that in all 4 pedigrees they studied, the disorder was inherited as a dominant trait with full penetrance in females. The male offspring of affected females were normal, but there was a shortage of male offspring and an excess of spontaneous abortions, suggesting that males with the hemizygous mutation die during early embryogenesis (Eksioglu et al., 1996).
Jardine et al. (1996) noted that there was a high frequency of spontaneous abortions in a family reported by Huttenlocher et al. (1994), which was compatible with X-linked dominant inheritance with lethality in males.
Sporadic nodular heterotopia has also been described (Raymond et al., 1994), but the sporadic form was distinguished from the presumably X-linked form by occurrence in males, later seizure onset, and fewer nodules.
### Somatic Mosaicism
Parrini et al. (2004) reported 2 unrelated mildly affected PVNH patients with somatic mosaicism for mutations in the FLNA gene. The first individual was a 28-year-old woman with no family history of neurologic disorders who had generalized seizures since age 14 years and thin noncontiguous heterotopic nodules on MRI. Heart ultrasonography and clotting studies were normal. Mutation analysis identified a mutation in the FLNA gene that was present in approximately 17% of her DNA. The patient's daughter did not carry the mutation. The second individual was a 49-year-old man with no family history of neurologic disorders. At age 15 years, he developed complex partial seizures with secondary generalization that were resistant to treatment. A brain MRI prior to surgery for an aortic aneurysm showed classical bilateral PVNH and cerebellar hypoplasia. Cognitive level was borderline. Mutation analysis identified a mutation in the FLNA gene that was present in 42% of blood-derived DNA and 69% of hair-derived DNA. The patient's unaffected daughter did not inherit the mutation. Parrini et al. (2004) noted that somatic mosaicism has been reported in patients with neuronal migration disorders due to mutations in the DCX (300121) and LIS1 (601545) genes, and concluded that the mild phenotypes in these 2 cases and the phenotypic heterogeneity of PVNH in general resulted from somatic mosaicism.
Mapping
Walsh et al. (1995) mapped familial nodular heterotopia to Xq28 by linkage analysis in one family. Since the L1CAM gene (308840), a neural cell adhesion molecule, is located in the same region, Jardine et al. (1996) suggested that it is a candidate gene for nodular heterotopia. Eksioglu et al. (1996) reported that NHBP is closely linked to markers in distal Xq28; the maximum 2-point lod score was 4.7 at theta = 0 between NHBP and F8C (300841). NHBP maps to a physical region encompassing 7 Mb on Xq28. Eksioglu et al. (1996) noted that candidate genes within this region include L1CAM and the alpha-3 subunit of the gamma-aminobutyric acid receptor (305660).
Fink et al. (1997) reported that high-resolution chromosomal analysis revealed a subtle abnormality of Xq28 in 1 of 3 boys with BPNH/MR syndrome. Fluorescence in situ hybridization (FISH) with cosmids and YACs from Xq28 further characterized this abnormality as a 2.25- to 3.25-Mb inverted duplication. No abnormality of Xq28 was detected by G-binding or FISH in the other 2 boys. These data supported the linkage assignment of BPNH to Xq28 and narrowed the critical region to the distal 2.25 to 3.25 Mb of Xq28. A gene-dosage model for BPHN/MR is supported by observations in boys with the X-Y(Xq) syndrome (Lahn et al., 1994). The X-Y(Xq) syndrome results from aberrant meiotic exchange between Xq and Yq in the fathers, which produces translocation of a portion of distal Xq28 to the Y chromosome inherited by each boy. In 3 of 8 boys with the X-Y(Xq) syndrome, Lahn et al. (1994) found a large duplication of the distal 4 Mb of Xq28, including all of the loci duplicated in the BPNH patient. Fink et al. (1997) noted that the 2 syndromes share many clinical manifestations, including severe mental retardation, microcephaly, aphasia, seizures, hypotonia, and short stature, but they noted that no syndactyly or BPNH was described in the boys reported by Lahn et al. (1994).
Molecular Genetics
In patients with X-linked periventricular nodular heterotopia, Fox et al. (1998) identified heterozygous mutations in the FLNA gene (300017.0001-300017.0015). The FLNA encodes an actin-crosslinking phosphoprotein that transduces ligand-receptor binding into actin reorganization, and which is required for locomotion of many cell types. Fox et al. (1998) demonstrated a previously unrecognized high level of expression of FLN1 in the developing cortex. The findings indicated that FLN1 is required for neuronal migration to the cortex. The lethality of the mutant in males suggested that it is essential for embryogenesis and has a function in developing nonneural tissues.
Hehr et al. (2006) reported a boy with periventricular nodular heterotopia, craniofacial features, and severe constipation who carried a mutation in the FLNA gene (300017.0024). Hehr et al. (2006) noted that the initial working diagnosis made in this patient was cerebrofrontofacial syndrome (see 243310). Unger et al. (2007) suggested that the patient reported by Hehr et al. (2006) may have had FG syndrome-2 (FGS2; 300321), given his constipation and dysmorphic facial features. Unger et al. (2007) identified a FLNA mutation (300017.0028) in a patient with FGS2.
In 3 patients with periventricular heterotopia with features of EDS, Sheen et al. (2005) identified heterozygous mutations in the FLNA gene (300017.0017-300017.0019). One pedigree with no detectable exonic FLNA mutation demonstrated positive linkage to the FLNA locus on Xq28, and an affected member of this family had no detectable FLNA protein.
In 3 female patients from a 3-generation Spanish family with periventricular heterotopia, Gomez-Garre et al. (2006) identified heterozygosity for a missense mutation in the FLNA gene (300017.0021). In addition to bilateral nodular heterotopia on brain MRI, the main clinical findings in the affected females were hyperextensible skin and joint hypermobility, initially suggesting a diagnosis of EDS type III (130020). However, additional clinical findings such as scoliosis, hyperlordosis or pectum excavatum, high-arched palate, and subarachnoid hemorrhage in 1 patient and visceral hernias in 2 exceeded the typical features of EDS type III.
Genotype/Phenotype Correlations
After mutations in FLN1 were identified in periventricular heterotopia, Fox et al. (1998) reviewed clinical histories of patients and discovered a number of additional congenital anomalies common to patients with FLN1 mutations. For example, 3 of 11 affected females (showing 3 distinct mutations) were born with patent ductus arteriosus requiring surgical correction. In addition, 3 of 11 females with periventricular heterotopia suffered strokes at young ages, whereas unaffected females in the same pedigree showed none. One affected female and the male carrying the Xq28 duplication had shortened digits, with the male also showing syndactyly and clinodactyly. Other CNS malformations included decreased size of the corpus callosum and a cerebellar anomaly described as an enlarged cisterna magna or cerebellar cyst, but may represent cerebellar hypoplasia. A high incidence of patent ductus arteriosus was found in other patients in whom FLN1 mutations had not yet been determined. In the pedigree reported by Huttenlocher et al. (1994), a male offspring of an affected female who carried the disease-linked haplotype was born alive but died from severe systemic bleeding and organ failure 3 days later. On postmortem examination, there was severe arrest of myeloid and erythroid differentiation in bone marrow and lymphoid depletion of the thymus.
Moro et al. (2002) reported 7 affected females from 2 families with BPNH segregating 2 novel mutations in the FLN1 gene. Affected females in both families showed the classic clinical phenotype with mild mental retardation and epilepsy. However, affected females in the family harboring a partially functional missense mutation (300017.0008) showed a milder anatomic phenotype with few asymmetric, noncontiguous nodules on MRI, and gave birth to 5 presumably affected boys who died within a few days to several weeks or months of life. Family 2 harbored a small deletion leading to complete inactivation of the protein. Moro et al. (2002) noted that differences in the severity of the ventricular heterotopia do not strictly correspond to variations in overall clinical expression of the disorder.
INHERITANCE \- X-linked dominant CARDIOVASCULAR Heart \- Bicuspid aortic valve Vascular \- Patent ductus arteriosus \- Dilation of the sinuses of Valsalva \- Dilation of the thoracic aorta NEUROLOGIC Central Nervous System \- Seizures, refractory to treatment \- Imaging shows noncalcified subependymal periventricular heterotopic nodules of gray matter \- Mental retardation, mild (in some patients) \- Strokes due to coagulopathy \- Neuronal migration disorder HEMATOLOGY \- Coagulopathy MISCELLANEOUS \- Prenatal or perinatal lethality in hemizygous males \- Often confused with tuberous sclerosis ( 191000 ) \- Otopalatodigital syndrome type I (OPD1, 311300 ) is an allelic disorder \- Otopalatodigital syndrome type II (OPD2, 304120 ) is an allelic disorder \- Frontometaphyseal dysplasia (FMD, 305620 ) is an allelic disorder \- Melnick-Needles syndrome (MNS, 309350 ) is an allelic disorder MOLECULAR BASIS \- Caused by mutation in the filamin A gene (FLNA, 300017.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
PERIVENTRICULAR NODULAR HETEROTOPIA 1
|
c1868720
| 25,375 |
omim
|
https://www.omim.org/entry/300049
| 2019-09-22T16:20:56 |
{"doid": ["0050454"], "mesh": ["D054091"], "omim": ["300049"], "orphanet": ["98892", "2149"], "synonyms": ["Alternative titles", "HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT", "HETEROTOPIA, FAMILIAL NODULAR", "NODULAR HETEROTOPIA, BILATERAL PERIVENTRICULAR", "HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT", "PERIVENTRICULAR NODULAR HETEROTOPIA 4, FORMERLY"], "genereviews": ["NBK1213", "NBK1393"]}
|
Concrescence
SpecialtyDentistry
Concrescence is a condition of teeth where the cementum overlying the roots of at least two teeth join together. It usually involves only two teeth. The most commonly involved teeth are upper second and third molars.[1] The prevalence rate is 0.04%.[2]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 5 References
* 6 External links
## Signs and symptoms[edit]
* Occlusion problems causing cheek biting and traumatic ulcers.[2]
* Involved teeth may have difficulty erupting or may not erupt completely.[2]
* May possibly cause localized periodontal destruction due to aetiological factors.[3]
* May cause fracture of the tuberosity or floor of the maxillary sinus.[citation needed]
## Cause[edit]
This condition arises as the result of traumatic injury or overcrowding of teeth.[2] True concrescence occurs during root formation phase, whereas acquired concrescence occurs after the radicular phase of development is complete.[1]
## Diagnosis[edit]
It is difficult to diagnose clinically. Radiographs taken at different angles can aid detection of concrescence.[2] Histological examination for extracted teeth could confirm diagnosis.[1]
## Treatment[edit]
If the condition is not affecting the patient, no treatment is needed. Concrescence teeth could be reshaped and replaced with full crowns. However, if the teeth are having recurrent problems, non-restorable or pain, extraction should be considered.[1][2][3]
## References[edit]
1. ^ a b c d Gunduz, K; Sumer, M; Sumer, A P; Gunhan, O (2006). "Concrescence of a mandibular third molar and a supernumerary fourth molar: Report of a rare case". British Dental Journal. 200 (3): 141–2. doi:10.1038/sj.bdj.4813191. PMID 16474352.
2. ^ a b c d e f Fernandes, A; Sar Dessai, G (1999). "Endodontic Miscellany: Concrescence - a case report" (PDF). Endodontology. 11: 65–6.
3. ^ a b Venugopal, Sanjay; Smitha, BV; Saurabh, Sprithyani (2013). "Paramolar concrescence and periodontitis". Journal of Indian Society of Periodontology. 17 (3): 383–6. doi:10.4103/0972-124X.115647. PMC 3768192. PMID 24049342.
## External links[edit]
Classification
D
* ICD-10: K00.2
* ICD-9-CM: 520.2
Look up concrescence in Wiktionary, the free dictionary.
* v
* t
* e
Developmental tooth disease/tooth abnormality
Quantity
* Anodontia/Hypodontia
* Hyperdontia
Shape and size
* Concrescence
* Fusion
* Gemination
* Dens evaginatus/Talon cusp
* Dens invaginatus
* Enamel pearl
* Macrodontia
* Microdontia
* Taurodontism
* Supernumerary roots
Formation
* Dilaceration
* Regional odontodysplasia
* Turner's hypoplasia
* Enamel hypoplasia
* Ectopic enamel
Other hereditary
* Amelogenesis imperfecta
* Dentinogenesis imperfecta
* Dentin dysplasia
* Regional odontodysplasia
Other
* Dental fluorosis
* Tooth impaction
This article about a disease, disorder, or medical condition is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Concrescence
|
c0266031
| 25,376 |
wikipedia
|
https://en.wikipedia.org/wiki/Concrescence
| 2021-01-18T19:03:51 |
{"icd-9": ["520.2"], "icd-10": ["K00.2"], "wikidata": ["Q5159028"]}
|
For other uses of "EDMD", see Everybody Draw Mohammed Day.
Emery–Dreifuss muscular dystrophy
FHL1 is one of the genes where mutations occur that in turn cause Emery–Dreifuss muscular dystrophy.
SpecialtyNeurology
SymptomsMuscle weakness[1]
CausesMutations in the EMD, LMNA genes(as well as others)[2]
Diagnostic methodCT scan, EKG[3]
TreatmentOrthopedic surgery, Pacemaker if needed[1]
Emery–Dreifuss muscular dystrophy is a condition that mainly affects muscles used for movement, such as skeletal muscles and also affects the cardiac muscle, it is named after Alan Eglin H. Emery and Fritz E. Dreifuss.[4][5]
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Diagnosis
* 3.1 Classification
* 4 Treatment
* 5 See also
* 6 References
* 7 Further reading
* 8 External links
## Signs and symptoms[edit]
Symptoms of EDMD begin in teenage years with toe-walking, rigid spine, face weakness, hand weakness and calf hypertrophy.[1] Among other signs/symptoms of Emery–Dreifuss muscular dystrophy are:[3][6]
* Muscle weakness EDMD can affect the shoulders and lower legs
* Cardiac involvement can affect an individuals heart rate (bradycardia, palpitations)
* Contractures of the muscles occurs slowly, eventually leading to the need for orthopedics (walker, cane)
## Genetics[edit]
Protein LMNA
Protein EMD
Mutations in the EMD, LMNA, and several other genes cause the various types of Emery–Dreifuss muscular dystrophy.[2] The EMD and LMNA genes provide instructions for making proteins that are components of the nuclear envelope, which surrounds the nucleus in cells. The nuclear envelope regulates the movement of molecules into and out of the nucleus, and researchers believe it may play a role in regulating the activity of certain genes.[medical citation needed]
Type OMIM Gene Description
EDMD1 310300 EMD This gene provides instructions for making a protein called emerin, a transmembrane protein of the inner nuclear membrane which appears to be essential for the normal function of skeletal and cardiac muscle. Most EMD mutations prevent the production of any functional emerin.[7][8]
EDMD2, EDMD3 181350 LMNA Emery–Dreifuss muscular dystrophy also results from mutations in the LMNA gene. This gene provides instructions for making two very similar proteins, lamin A and lamin C. Most of the LMNA mutations that cause this condition result in the production of an altered version of these proteins.[9][10]
EDMD4 612998 SYNE1 Here one finds that muscle cells indicate loss of nuclear envelope consistency, additionally the affected individual experiences cerebellar ataxia at approximately 30 years of age.[11][12]
EDMD5 612999 SYNE2 In SYNE2 we see a transition in said gene, that results in T89M as a result of a substitution. Via fluorescent in-situ hybridization the gene is located at chromosome 14q23[13]
EDMD6 300696 FHL1 This x-linked type of EDMD is had via mutations in the FHL1 gene, where protein gels (Western blots) indicate less band expression, with mutations in exon 5–8 on the gene[14][15]
EDMD7 614302 TMEM43 Heterozygous[16]
## Diagnosis[edit]
The diagnosis of Emery–Dreifuss muscular dystrophy can be established via single-gene testing or genomic testing, and clinically diagnosed via the following exams/methods:[3]
* CAT scan
* Serum CK analysis
* EKG
* Echocardiogram
* Electromyogram
* Immunodetection
### Classification[edit]
The types of Emery–Dreifuss muscular dystrophy are distinguished by their pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive.[3]
* Autosomal dominant Emery–Dreifuss muscular dystrophy individuals experience heart problems with weakness (and wasting) of skeletal muscles and Achilles tendon contractures.[17]
* X-linked Emery–Dreifuss muscular dystrophy is the result of the EMD gene, with cardiac involvement.[18]
* Autosomal recessive individuals with this type of the disorder demonstrate cardiac issues, such as arrhythmia. Individuals who acquire EDMD via the autosomal recessive route have an incidence of 1 in 300,000.[19][20]
## Treatment[edit]
The treatment (management) of Emery–Dreifuss muscular dystrophy can be done via several methods, however secondary complications should be considered in terms of the progression of EDMD, therefore cardiac defibrillators may be needed at some point by the affected individual. Other possible forms of management and treatment are the following:[3][20]
ACE inhibitor
* Orthopaedics
* Surgery
* Monitor/treat any cardiac issues
* Medication (beta-blockers, ACE inhibitors)
* Respiratory aid
* Physical therapy
## See also[edit]
* Laminopathies
* Noncompaction cardiomyopathy
## References[edit]
1. ^ a b c "Emery–Dreifuss Muscular Dystrophy Clinical Presentation: History, Causes". emedicine.medscape.com. Retrieved 2016-05-20.
2. ^ a b Brown SC, Piercy RJ, Muntoni F, Sewry CA (December 2008). "Investigating the pathology of Emery–Dreifuss muscular dystrophy". Biochem. Soc. Trans. 36 (Pt 6): 1335–8. doi:10.1042/BST0361335. PMID 19021551. S2CID 20787699.
3. ^ a b c d e Bonne, Gisèle; Leturcq, France; Ben Yaou, Rabah (1993-01-01). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.). Emery–Dreifuss Muscular Dystrophy. Seattle (WA): University of Washington, Seattle. PMID 20301609.update 2015
4. ^ "Emery-Dreifuss muscular dystrophy".
5. ^ Emery AE, Dreifuss FE (1966). "Unusual type of benign x-linked muscular dystrophy". J. Neurol. Neurosurg. Psychiatry. 29 (4): 338–42. doi:10.1136/jnnp.29.4.338. PMC 1064196. PMID 5969090.
6. ^ "Muscular Dystrophies – An Overview. Information and advice | Patient". Patient. Retrieved 2016-05-20.
7. ^ Reference, Genetics Home. "EMD". Genetics Home Reference. Retrieved 19 May 2016.
8. ^ "OMIM Entry – * 300384 – EMERIN; EMD". www.omim.org. Retrieved 19 May 2016.
9. ^ Reference, Genetics Home. "LMNA". Genetics Home Reference. Retrieved 19 May 2016.
10. ^ "OMIM Entry – * 150330 – LAMIN A/C; LMNA". www.omim.org. Retrieved 19 May 2016.
11. ^ Dupré, Nicolas; Gros-Louis, François; Bouchard, Jean-Pierre; Noreau, Anne; Rouleau, Guy A. (1 January 1993). "SYNE1 Deficiency". SYNE1-Related Autosomal Recessive Cerebellar Ataxia. GeneReviews. University of Washington, Seattle. Retrieved 10 May 2016., update 2011
12. ^ "OMIM Entry – * 608441 – SPECTRIN REPEAT-CONTAINING NUCLEAR ENVELOPE PROTEIN 1; SYNE1". www.omim.org. Retrieved 19 May 2016.
13. ^ "OMIM Entry – * 608442 – SPECTRIN REPEAT-CONTAINING NUCLEAR ENVELOPE PROTEIN 2; SYNE2". www.omim.org. Retrieved 19 May 2016.
14. ^ "OMIM Entry – * 300163 – FOUR-AND-A-HALF LIM DOMAINS 1; FHL1". www.omim.org. Retrieved 19 May 2016.
15. ^ "OMIM Entry – # 300696 – MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA". omim.org. Retrieved 19 May 2016.
16. ^ "OMIM Entry #614302 EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7". omim.org. Retrieved 29 August 2017.
17. ^ "OMIM Entry – # 181350 – EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2". www.omim.org. Retrieved 2016-05-19.
18. ^ "OMIM Entry – # 310300 – EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1". www.omim.org. Retrieved 2016-05-19.
19. ^ "OMIM Entry – # 616516 – EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE; EDMD3". www.omim.org. Retrieved 2016-05-19.
20. ^ a b RESERVED, INSERM US14 – ALL RIGHTS. "Orphanet: Emery Dreifuss muscular dystrophy". www.orpha.net. Retrieved 20 May 2016.
## Further reading[edit]
* Manila, S.; Recan, D.; Sewry, C. A.; Hoeltzenbein, M.; Llense, S.; Leturcq, F.; Deburgrave, N.; Barbot, J.-C.; Man, Nguyen thi (1998-05-01). "Mutations in Emery–Dreifuss Muscular Dystrophy and their Effects on Emerin Protein Expression". Human Molecular Genetics. 7 (5): 855–864. doi:10.1093/hmg/7.5.855. ISSN 0964-6906. PMID 9536090.
* Ziat, Esma; Bertrand, Anne T. (2015-01-01). "FHL1 protein isoforms in Emery–Dreifuss muscular dystrophy". Orphanet Journal of Rare Diseases. 10 (2): O18. doi:10.1186/1750-1172-10-S2-O18. ISSN 1750-1172. PMC 4652543.
## External links[edit]
Classification
D
* ICD-10: G71.0
* ICD-9-CM: 359.1
* OMIM: 181350 310300 616516 614302
* MeSH: D020389
* DiseasesDB: 31705
* SNOMED CT: 129620000
External resources
* eMedicine: neuro/513
* GeneReviews: Emery–Dreifuss Muscular Dystrophy
* Orphanet: 261
Scholia has a topic profile for Emery–Dreifuss muscular dystrophy.
* v
* t
* e
Muscular dystrophy
Types
* Congenital
* Dystrophinopathy
* Becker's
* Duchenne
* Distal
* Emery-Dreifuss
* Facioscapulohumeral
* Limb-girdle muscular dystrophy
* Calpainopathy
* Myotonic
* Oculopharyngeal
National/International Organizations
* Muscular Dystrophy Association (USA)
* Muscular Dystrophy Canada
* Myotonic Dystrophy Foundation
* Muskelsvindfonden (Denmark)
National/International Events
* MDA Muscle Walk (USA)
* Labor Day Telethon (defunct; USA/Canada)
* Décrypthon (France)
* Grøn Koncert (Denmark)
Clinical trials
* Stamulumab (MYO-029)
Category
* v
* t
* e
Diseases of muscle, neuromuscular junction, and neuromuscular disease
Neuromuscular-
junction disease
* autoimmune
* Myasthenia gravis
* Lambert–Eaton myasthenic syndrome
* Neuromyotonia
Myopathy
Muscular dystrophy
(DAPC)
AD
* Limb-girdle muscular dystrophy 1
* Oculopharyngeal
* Facioscapulohumeral
* Myotonic
* Distal (most)
AR
* Calpainopathy
* Limb-girdle muscular dystrophy 2
* Congenital
* Fukuyama
* Ullrich
* Walker–Warburg
XR
* dystrophin
* Becker's
* Duchenne
* Emery–Dreifuss
Other structural
* collagen disease
* Bethlem myopathy
* PTP disease
* X-linked MTM
* adaptor protein disease
* BIN1-linked centronuclear myopathy
* cytoskeleton disease
* Nemaline myopathy
* Zaspopathy
Channelopathy
Myotonia
* Myotonia congenita
* Thomsen disease
* Neuromyotonia/Isaacs syndrome
* Paramyotonia congenita
Periodic paralysis
* Hypokalemic
* Thyrotoxic
* Hyperkalemic
Other
* Central core disease
Mitochondrial myopathy
* MELAS
* MERRF
* KSS
* PEO
General
* Inflammatory myopathy
* Congenital myopathy
* v
* t
* e
X-linked disorders
X-linked recessive
Immune
* Chronic granulomatous disease (CYBB)
* Wiskott–Aldrich syndrome
* X-linked severe combined immunodeficiency
* X-linked agammaglobulinemia
* Hyper-IgM syndrome type 1
* IPEX
* X-linked lymphoproliferative disease
* Properdin deficiency
Hematologic
* Haemophilia A
* Haemophilia B
* X-linked sideroblastic anemia
Endocrine
* Androgen insensitivity syndrome/Spinal and bulbar muscular atrophy
* KAL1 Kallmann syndrome
* X-linked adrenal hypoplasia congenita
Metabolic
* Amino acid: Ornithine transcarbamylase deficiency
* Oculocerebrorenal syndrome
* Dyslipidemia: Adrenoleukodystrophy
* Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency
* Pyruvate dehydrogenase deficiency
* Danon disease/glycogen storage disease Type IIb
* Lipid storage disorder: Fabry's disease
* Mucopolysaccharidosis: Hunter syndrome
* Purine–pyrimidine metabolism: Lesch–Nyhan syndrome
* Mineral: Menkes disease/Occipital horn syndrome
Nervous system
* X-linked intellectual disability: Coffin–Lowry syndrome
* MASA syndrome
* Alpha-thalassemia mental retardation syndrome
* Siderius X-linked mental retardation syndrome
* Eye disorders: Color blindness (red and green, but not blue)
* Ocular albinism (1)
* Norrie disease
* Choroideremia
* Other: Charcot–Marie–Tooth disease (CMTX2-3)
* Pelizaeus–Merzbacher disease
* SMAX2
Skin and related tissue
* Dyskeratosis congenita
* Hypohidrotic ectodermal dysplasia (EDA)
* X-linked ichthyosis
* X-linked endothelial corneal dystrophy
Neuromuscular
* Becker's muscular dystrophy/Duchenne
* Centronuclear myopathy (MTM1)
* Conradi–Hünermann syndrome
* Emery–Dreifuss muscular dystrophy 1
Urologic
* Alport syndrome
* Dent's disease
* X-linked nephrogenic diabetes insipidus
Bone/tooth
* AMELX Amelogenesis imperfecta
No primary system
* Barth syndrome
* McLeod syndrome
* Smith–Fineman–Myers syndrome
* Simpson–Golabi–Behmel syndrome
* Mohr–Tranebjærg syndrome
* Nasodigitoacoustic syndrome
X-linked dominant
* X-linked hypophosphatemia
* Focal dermal hypoplasia
* Fragile X syndrome
* Aicardi syndrome
* Incontinentia pigmenti
* Rett syndrome
* CHILD syndrome
* Lujan–Fryns syndrome
* Orofaciodigital syndrome 1
* Craniofrontonasal dysplasia
* v
* t
* e
Cytoskeletal defects
Microfilaments
Myofilament
Actin
* Hypertrophic cardiomyopathy 11
* Dilated cardiomyopathy 1AA
* DFNA20
* Nemaline myopathy 3
Myosin
* Elejalde syndrome
* Hypertrophic cardiomyopathy 1, 8, 10
* Usher syndrome 1B
* Freeman–Sheldon syndrome
* DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
* May–Hegglin anomaly
Troponin
* Hypertrophic cardiomyopathy 7, 2
* Nemaline myopathy 4, 5
Tropomyosin
* Hypertrophic cardiomyopathy 3
* Nemaline myopathy 1
Titin
* Hypertrophic cardiomyopathy 9
Other
* Fibrillin
* Marfan syndrome
* Weill–Marchesani syndrome
* Filamin
* FG syndrome 2
* Boomerang dysplasia
* Larsen syndrome
* Terminal osseous dysplasia with pigmentary defects
IF
1/2
* Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1
* Striate palmoplantar keratoderma 3
* Epidermolytic hyperkeratosis
* IHCM
* KRT2E (Ichthyosis bullosa of Siemens)
* KRT3 (Meesmann juvenile epithelial corneal dystrophy)
* KRT4 (White sponge nevus)
* KRT5 (Epidermolysis bullosa simplex)
* KRT8 (Familial cirrhosis)
* KRT10 (Epidermolytic hyperkeratosis)
* KRT12 (Meesmann juvenile epithelial corneal dystrophy)
* KRT13 (White sponge nevus)
* KRT14 (Epidermolysis bullosa simplex)
* KRT17 (Steatocystoma multiplex)
* KRT18 (Familial cirrhosis)
* KRT81/KRT83/KRT86 (Monilethrix)
* Naegeli–Franceschetti–Jadassohn syndrome
* Reticular pigmented anomaly of the flexures
3
* Desmin: Desmin-related myofibrillar myopathy
* Dilated cardiomyopathy 1I
* GFAP: Alexander disease
* Peripherin: Amyotrophic lateral sclerosis
4
* Neurofilament: Parkinson's disease
* Charcot–Marie–Tooth disease 1F, 2E
* Amyotrophic lateral sclerosis
5
* Laminopathy: LMNA
* Mandibuloacral dysplasia
* Dunnigan Familial partial lipodystrophy
* Emery–Dreifuss muscular dystrophy 2
* Limb-girdle muscular dystrophy 1B
* Charcot–Marie–Tooth disease 2B1
* LMNB
* Barraquer–Simons syndrome
* LEMD3
* Buschke–Ollendorff syndrome
* Osteopoikilosis
* LBR
* Pelger–Huet anomaly
* Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
Microtubules
Kinesin
* Charcot–Marie–Tooth disease 2A
* Hereditary spastic paraplegia 10
Dynein
* Primary ciliary dyskinesia
* Short rib-polydactyly syndrome 3
* Asphyxiating thoracic dysplasia 3
Other
* Tauopathy
* Cavernous venous malformation
Membrane
* Spectrin: Spinocerebellar ataxia 5
* Hereditary spherocytosis 2, 3
* Hereditary elliptocytosis 2, 3
Ankyrin: Long QT syndrome 4
* Hereditary spherocytosis 1
Catenin
* APC
* Gardner's syndrome
* Familial adenomatous polyposis
* plakoglobin (Naxos syndrome)
* GAN (Giant axonal neuropathy)
Other
* desmoplakin: Striate palmoplantar keratoderma 2
* Carvajal syndrome
* Arrhythmogenic right ventricular dysplasia 8
* plectin: Epidermolysis bullosa simplex with muscular dystrophy
* Epidermolysis bullosa simplex of Ogna
* plakophilin: Skin fragility syndrome
* Arrhythmogenic right ventricular dysplasia 9
* centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)
Related topics: Cytoskeletal proteins
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Emery–Dreifuss muscular dystrophy
|
c0410189
| 25,377 |
wikipedia
|
https://en.wikipedia.org/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy
| 2021-01-18T18:34:44 |
{"gard": ["6329"], "mesh": ["D020389"], "umls": ["C0410189"], "icd-9": ["359.1", "359.0"], "orphanet": ["261"], "wikidata": ["Q1335642"]}
|
Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Osteopetrosis-hypogammaglobulinemia syndrome
|
c2676766
| 25,378 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=178389
| 2021-01-23T17:52:01 |
{"gard": ["10106"], "mesh": ["C567354"], "omim": ["612301"], "umls": ["C2676766"], "icd-10": ["Q78.2"], "synonyms": ["Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia", "Autosomal recessive osteopetrosis type 7"]}
|
Pulmonary-renal syndrome (PRS) is a rare medical syndrome in which respiratory failure involving bleeding in the lungs and kidney failure (glomerulonephritis) occur.[1] PRS is associated with a high rate of morbidity and death.[1] The term was first used by Goodpasture in 1919 to describe the association of respiratory and kidney failure.[1]
## Contents
* 1 Causes
* 2 Diagnosis
* 2.1 Differential diagnosis
* 3 Treatment
* 4 References
## Causes[edit]
Pulmonary-renal syndromes are most commonly caused by an underlying autoimmune disease. PRS is most commonly due to ANCA-associated vasculitides (e.g., granulomatosis with polyangiitis) or due to anti-basement membrane diseases (e.g., Goodpasture's syndrome). Granulomatosis with polyangiitis usually presents with nasopharyngeal involvement as well, whereas Goodpasture's will not. Microscopic polyangiitis is the most common cause of pulmonary-renal syndrome.[citation needed]
Other causes include systemic lupus erythematosus, eosinophilic granulomatosis with polyangiitis, microscopic polyangiitis, dermatomyositis, polymyositis, mixed connective tissue disease, poststreptococcal glomerulonephritis, rheumatoid arthritis, and systemic sclerosis.[1] Less common causes also include IgA vasculitis and cryoglobulinemic vasculitis.
Other etiologies include toxic injury such as paraquat poisoning, infection with hantavirus, leptospirosis, or legionella, or vascular, as seen in nephrotic syndrome when a renal vein thrombosis embolizes to the lungs.
## Diagnosis[edit]
### Differential diagnosis[edit]
Cardiogenic shock can mimic a pulmonary renal syndrome and lead to coughing up blood due to pulmonary edema and kidney failure from inadequate blood flow.[1]
## Treatment[edit]
Treatment is primarily by corticosteroids and immunosuppressive medications like cyclophosphamide, methotrexate, and azathioprine. Plasmapheresis can be used in some circumstances.[citation needed]
## References[edit]
1. ^ a b c d e West, SC; Arulkumaran, N; Ind, PW; Pusey, CD (May 2013). "Pulmonary-renal syndrome: a life threatening but treatable condition". Postgraduate Medical Journal (Review). 89 (1051): 274–83. doi:10.1136/postgradmedj-2012-131416. PMID 23349383.
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* v
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* common allergies include: Milk
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* * IgM
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* Autoimmune hemolytic anemia
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This article about a medical condition affecting the respiratory system is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
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
|
Pulmonary-renal syndrome
|
c0403529
| 25,379 |
wikipedia
|
https://en.wikipedia.org/wiki/Pulmonary-renal_syndrome
| 2021-01-18T18:58:32 |
{"mesh": ["D019867"], "wikidata": ["Q7259514"]}
|
Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Pontocerebellar hypoplasia type 7
|
c3554226
| 25,380 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=284339
| 2021-01-23T17:19:53 |
{"omim": ["614969"], "icd-10": ["Q04.3"], "synonyms": ["PCH7", "Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome"]}
|
A number sign (#) is used with this entry because of evidence that nephronophthisis-9 can be caused by homozygous mutation in the NEK8 gene (609799) on chromosome 17q11.
Description
Nephronophthisis (NPHP) is an autosomal recessive kidney disease that leads to kidney cyst formation and progressive renal failure. NPHP is the most frequent genetic cause of end-stage renal failure in the first 3 decades of life (summary by Otto et al., 2008).
For a general description and a discussion of genetic heterogeneity of NPHP, see NPHP1 (256100).
Clinical Features
Otto et al. (2008) reported a Kurdish patient, born of consanguineous parents, with nephronophthisis. The patient had end-stage renal failure at age 3 years with microcysts on renal biopsy. There was no ocular involvement.
Molecular Genetics
In 1 of 188 patients with nephronophthisis, Otto et al. (2008) identified a homozygous mutation in the NEK8 gene (609799.0001). NEK8 mutations were not identified in 400 additional patients with NPHP, indicating that NEK8 mutations are a very rare cause of the disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
NEPHRONOPHTHISIS 9
|
c0687120
| 25,381 |
omim
|
https://www.omim.org/entry/613824
| 2019-09-22T15:57:18 |
{"doid": ["0111120"], "omim": ["613824"], "orphanet": ["655"], "genereviews": ["NBK368475"]}
|
Not to be confused with Aortic dissection.
Abdominal aortic aneurysm
Other namesTriple-A
CT reconstruction image of an abdominal aortic aneurysm (white arrows)
SpecialtyVascular surgery
SymptomsNone, abdominal, back, or leg pain[1][2]
Usual onsetOver 50 years old males[1]
Risk factorsSmoking, high blood pressure, other heart or blood vessel diseases, family history, Marfan syndrome[1][3][4]
Diagnostic methodMedical imaging (abdominal aorta diameter > 3 cm)[1]
PreventionNot smoking, treating risk factors[1]
TreatmentSurgery (open surgery or endovascular aneurysm repair)[1]
Frequency~5% (males over 65 years)[1]
Deaths168,200 aortic aneurysms (2015)[5]
Abdominal aortic aneurysm (AAA or triple A)[6] is a localized enlargement of the abdominal aorta such that the diameter is greater than 3 cm or more than 50% larger than normal.[1] They usually cause no symptoms, except during rupture.[1] Occasionally, abdominal, back, or leg pain may occur.[2] Large aneurysms can sometimes be felt by pushing on the abdomen.[2] Rupture may result in pain in the abdomen or back, low blood pressure, or loss of consciousness, and often results in death.[1][7]
AAAs occur most commonly in those over 50 years old, in men, and among those with a family history.[1] Additional risk factors include smoking, high blood pressure, and other heart or blood vessel diseases.[3] Genetic conditions with an increased risk include Marfan syndrome and Ehlers-Danlos syndrome.[4] AAAs are the most common form of aortic aneurysm.[4] About 85% occur below the kidneys with the rest either at the level of or above the kidneys.[1] In the United States, screening with abdominal ultrasound is recommended for males between 65 and 75 years of age with a history of smoking.[8] In the United Kingdom and Sweden, screening all men over 65 is recommended.[1][9] Once an aneurysm is found, further ultrasounds are typically done on a regular basis.[2]
Not smoking is the single best way to prevent the disease.[1] Other methods of prevention include treating high blood pressure, treating high blood cholesterol, and not being overweight.[1] Surgery is usually recommended when the diameter of an AAA grows to >5.5 cm in males and >5.0 cm in females.[1] Other reasons for repair include the presence of symptoms and a rapid increase in size, defined as more than one centimeter per year.[2] Repair may be either by open surgery or endovascular aneurysm repair (EVAR).[1] As compared to open surgery, EVAR has a lower risk of death in the short term and a shorter hospital stay, but may not always be an option.[1][10][11] There does not appear to be a difference in longer-term outcomes between the two.[12] Repeat procedures are more common with EVAR.[13]
AAAs affect 2-8% of males over the age of 65.[1] Rates among women are one-fourth as high.[1] In those with an aneurysm less than 5.5 cm, the risk of rupture in the next year is below 1%.[1] Among those with an aneurysm between 5.5 and 7 cm, the risk is about 10%, while for those with an aneurysm greater than 7 cm the risk is about 33%.[1] Mortality if ruptured is 85% to 90%.[1] During 2013, aortic aneurysms resulted in 168,200 deaths, up from 100,000 in 1990.[5][14] In the United States AAAs resulted in between 10,000 and 18,000 deaths in 2009.[4]
## Contents
* 1 Signs and symptoms
* 1.1 Complications
* 2 Causes
* 3 Pathophysiology
* 4 Diagnosis
* 4.1 Classification
* 4.2 Differential diagnosis
* 5 Prevention
* 6 Screening
* 7 Management
* 7.1 Conservative
* 7.2 Medication
* 7.3 Surgery
* 7.3.1 Open repair
* 7.3.2 Endovascular repair
* 7.4 Rupture
* 8 Prognosis
* 9 Epidemiology
* 10 History
* 11 Society and culture
* 12 Research
* 12.1 Risk assessment
* 12.2 Experimental models
* 12.3 Prevention and treatment
* 13 References
* 14 External links
## Signs and symptoms[edit]
Abdominal aortic aneurysm location
The vast majority of aneurysms are asymptomatic. However, as abdominal aortic aneurysms expand, they may become painful and lead to pulsating sensations in the abdomen or pain in the chest, lower back, or scrotum.[15]
### Complications[edit]
The complications include rupture, peripheral embolization, acute aortic occlusion, and aortocaval (between the aorta and inferior vena cava) or aortoduodenal (between the aorta and the duodenum) fistulae. On physical examination, a palpable and pulsatile abdominal mass can be noted. Bruits can be present in case of renal or visceral arterial stenosis.[16]
The signs and symptoms of a ruptured AAA may include severe pain in the lower back, flank, abdomen or groin. A mass that pulses with the heart beat may also be felt.[7] The bleeding can lead to a hypovolemic shock with low blood pressure and a fast heart rate. This may lead to brief passing out.[7] The mortality of AAA rupture is as high as 90 percent. 65 to 75 percent of patients die before they arrive at the hospital and up to 90 percent die before they reach the operating room.[17] The bleeding can be retroperitoneal or into the abdominal cavity. Rupture can also create a connection between the aorta and intestine or inferior vena cava.[18] Flank ecchymosis (appearance of a bruise) is a sign of retroperitoneal bleeding, and is also called Grey Turner's sign.[16][19]
## Causes[edit]
The exact causes of the degenerative process remain unclear. There are, however, some hypotheses and well-defined risk factors.[20]
* Tobacco smoking: More than 90% of people who develop an AAA have smoked at some point in their lives.[21]
* Alcohol and hypertension: The inflammation caused by prolonged use of alcohol and hypertensive effects from abdominal edema which leads to hemorrhoids, esophageal varices, and other conditions, is also considered a long-term cause of AAA.
* Genetic influences: The influence of genetic factors is high. AAA is four to six times more common in male siblings of known patients, with a risk of 20–30%.[22] The high familial prevalence rate is most notable in male individuals.[23] There are many hypotheses about the exact genetic disorder that could cause higher incidence of AAA among male members of the affected families. Some presumed that the influence of alpha 1-antitrypsin deficiency could be crucial, while other experimental works favored the hypothesis of X-linked mutation, which would explain the lower incidence in heterozygous females. Other hypotheses of genetic causes have also been formulated.[16] Connective tissue disorders, such as Marfan syndrome and Ehlers-Danlos syndrome, have also been strongly associated with AAA.[18] Both relapsing polychondritis and pseudoxanthoma elasticum may cause abdominal aortic aneurysm.[24]
* Atherosclerosis: The AAA was long considered to be caused by atherosclerosis, because the walls of the AAA frequently carry an atherosclerotic burden. However, this hypothesis cannot be used to explain the initial defect and the development of occlusion, which is observed in the process.[16]
* Other causes of the development of AAA include: infection, trauma, arteritis, and cystic medial necrosis.[18]
## Pathophysiology[edit]
A plate from Gray's Anatomy with yellow lines depicting the most common infrarenal location of the AAA
3D file showing an aortic aneurysm
The most striking histopathological changes of the aneurysmatic aorta are seen in the tunica media and intima layers. These changes include the accumulation of lipids in foam cells, extracellular free cholesterol crystals, calcifications, thrombosis, and ulcerations and ruptures of the layers. Adventitial inflammatory infiltrate is present.[18] However, the degradation of the tunica media by means of a proteolytic process seems to be the basic pathophysiologic mechanism of AAA development. Some researchers report increased expression and activity of matrix metalloproteinases in individuals with AAA. This leads to elimination of elastin from the media, rendering the aortic wall more susceptible to the influence of blood pressure.[16] Other reports have suggested the serine protease granzyme B may contribute to aortic aneurysm rupture through the cleavage of decorin, leading to disrupted collagen organization and reduced tensile strength of the adventitia.[25][26] There is also a reduced amount of vasa vasorum in the abdominal aorta (compared to the thoracic aorta); consequently, the tunica media must rely mostly on diffusion for nutrition, which makes it more susceptible to damage.[27]
Hemodynamics affect the development of AAA, which has a predilection for the infrarenal aorta. The histological structure and mechanical characteristics of the infrarenal aorta differ from those of the thoracic aorta. The diameter decreases from the root to the aortic bifurcation, and the wall of the infrarenal aorta also contains a lesser proportion of elastin. The mechanical tension in the abdominal aortic wall is therefore higher than in the thoracic aortic wall. The elasticity and distensibility also decline with age, which can result in gradual dilatation of the segment. Higher intraluminal pressure in patients with arterial hypertension markedly contributes to the progression of the pathological process.[18] Suitable hemodynamic conditions may be linked to specific intraluminal thrombus (ILT) patterns along the aortic lumen, which in turn may affect AAA's development.[28]
## Diagnosis[edit]
An abdominal aortic aneurysm is usually diagnosed by physical exam, abdominal ultrasound, or CT scan. Plain abdominal radiographs may show the outline of an aneurysm when its walls are calcified. However, the outline will be visible on Xray in less than half of all aneurysms. Ultrasonography is used to screen for aneurysms and to determine the size of any present. Additionally, free peritoneal fluid can be detected. It is noninvasive and sensitive, but the presence of bowel gas or obesity may limit its usefulness. CT scan has a nearly 100% sensitivity for an aneurysm and is also useful in preoperative planning, detailing the anatomy and possibility for endovascular repair. In the case of suspected rupture, it can also reliably detect retroperitoneal fluid. Alternative less often used methods for visualization of an aneurysm include MRI and angiography.
An aneurysm ruptures if the mechanical stress (tension per area) exceeds the local wall strength; consequently, peak wall stress (PWS)[29] and peak wall rupture risk (PWRR)[30] have been found to be more reliable parameters than diameter to assess AAA rupture risk. Medical software allows computing these rupture risk indices from standard clinical CT data and provides a patient-specific AAA rupture risk diagnosis.[31] This type of biomechanical approach has been shown to accurately predict the location of AAA rupture.[32]
* Aortic measurement on abdominal ultrasonography in the axial plane between the outer margins of the aortic wall.[33]
* Ultrasonography in the sagittal plane, showing axial plane measure (dashed red line), as well as maximal diameter (dotted yellow line) which is preferred.
* A ruptured AAA with an open arrow marking the aneurysm and the closed arrow marking the free blood in the abdomen
* Sagittal CT image of an AAA
* Biomechanical AAA rupture risk prediction
* An axial contrast-enhanced CT scan demonstrating an abdominal aortic aneurysm of 4.8 by 3.8 cm
* The faint outline of the calcified wall of an AAA as seen on plain X-ray
* Abdominal aortic aneurysms (3.4 cm)
* An aortic aneurysm as seen on CT with a small area of remaining blood flow
* Play media
Ultrasound showing a previously repaired AAA that is leaking with flow around the graft[34]
* Ultrasonography of an aneurysm with a mural thrombus.
### Classification[edit]
Size classification Ectatic or
mild dilatation >2.0 cm and <3.0 cm[35]
Moderate 3.0 - 5.0 cm[35]
Large or severe >5.0[35] or 5.5[36] cm
Abdominal aortic aneurysms are commonly divided according to their size and symptomatology. An aneurysm is usually defined as an outer aortic diameter over 3 cm (normal diameter of the aorta is around 2 cm),[37] or more than 50% of normal diameter.[38] If the outer diameter exceeds 5.5 cm, the aneurysm is considered to be large.[36] Ruptured AAA should be suspected in any older (age >60) person with collapse, unexplained low blood pressure, or sudden-onset back or abdominal pain. Abdominal pain, shock, and a pulsatile mass is only present in a minority of cases. Although an unstable person with a known aneurysm may undergo surgery without further imaging, the diagnosis will usually be confirmed using CT or ultrasound scanning.
The suprarenal aorta normally measures about 0.5 cm larger than the infrarenal aorta.[39]
### Differential diagnosis[edit]
Aortic aneurysm rupture may be mistaken for the pain of kidney stones, or muscle related back pain.[7]
## Prevention[edit]
* Smoking cessation
* Treatment of hypertension
## Screening[edit]
The U.S. Preventive Services Task Force (USPSTF) recommends a single screening abdominal ultrasound for abdominal aortic aneurysm in males age 65 to 75 years who have a history of smoking.[40] Among this group who does not smoke screening may be selective.[40] It is unclear if screening is useful in women who have smoked and the USPSTF recommend against screening in women who have never smoked.[8][41]
In the United Kingdom the NHS AAA Screening Programme invites men in England for screening during the year they turn 65. Men over 65 can contact the programme to arrange to be screened.[42]
In Sweden one time screening is recommended in all males over 65 years of age.[1][9] This has been found to decrease the risk of death from AAA by 42% with a number needed to screen of just over 200.[41] In those with a close relative diagnosed with an aortic aneurysm, Swedish guidelines recommend an ultrasound at around 60 years of age.[43]
Australia has no guideline on screening.[44]
Repeat ultrasounds should be carried out in those who have an aortic size greater than 3.0 cm.[45] In those whose aorta is between 3.0 and 3.9 cm this should be every three years, if between 4.0 and 4.4 cm every two years, and if between 4.5 and 5.4 cm every year.[45]
## Management[edit]
The treatment options for asymptomatic AAA are conservative management, surveillance with a view to eventual repair, and immediate repair. Two modes of repair are available for an AAA: open aneurysm repair, and endovascular aneurysm repair (EVAR). An intervention is often recommended if the aneurysm grows more than 1 cm per year or it is bigger than 5.5 cm.[46] Repair is also indicated for symptomatic aneurysms.
### Conservative[edit]
Conservative management is indicated in people where repair carries a high risk of mortality and in patients where repair is unlikely to improve life expectancy. The mainstay of the conservative treatment is smoking cessation.
Surveillance is indicated in small asymptomatic aneurysms (less than 5.5 cm) where the risk of repair exceeds the risk of rupture.[46] As an AAA grows in diameter, the risk of rupture increases. Surveillance until an aneurysm has reached a diameter of 5.5 cm has not been shown to have a higher risk as compared to early intervention.[47][48]
### Medication[edit]
No medical therapy has been found to be effective at decreasing the growth rate or rupture rate of asymptomatic AAAs.[1] Blood pressure and lipids should, however, be treated per usual.[37]
### Surgery[edit]
The threshold for repair varies slightly from individual to individual, depending on the balance of risks and benefits when considering repair versus ongoing surveillance. The size of an individual's native aorta may influence this, along with the presence of comorbidities that increase operative risk or decrease life expectancy. Evidence, however, does not usually support repair if the size is less than 5.5 cm.[46]
#### Open repair[edit]
Main article: Open aortic surgery
Open repair is indicated in young patients as an elective procedure, or in growing or large, symptomatic or ruptured aneurysms. The aorta must be clamped off during the repair, denying blood to the abdominal organs and sections of the spinal cord; this can cause a range of complications. It is essential to make the critical part of the operation fast, so the incision is typically made large enough to facilitate the fastest repair. Recovery after open AAA surgery takes significant time. The minimums are a few days in intensive care, a week total in the hospital and a few months before full recovery.
#### Endovascular repair[edit]
Abdominal aortic endoprosthesis, CT scan, original aneurysm marked in blue
Main article: Endovascular aneurysm repair
Endovascular repair first became practical in the 1990s and although it is now an established alternative to open repair, its role is yet to be clearly defined. It is generally indicated in older, high-risk patients or patients unfit for open repair. However, endovascular repair is feasible for only a proportion of AAAs, depending on the morphology of the aneurysm. The main advantages over open repair are that there is less peri-operative mortality, less time in intensive care, less time in hospital overall and earlier return to normal activity. Disadvantages of endovascular repair include a requirement for more frequent ongoing hospital reviews, and a higher chance of further procedures being required. According to the latest studies, the EVAR procedure does not offer any benefit for overall survival or health-related quality of life compared to open surgery, although aneurysm-related mortality is lower.[49][50][51][52] In patients unfit for open repair, EVAR plus conservative management was associated with no benefit, more complications, subsequent procedures and higher costs compared to conservative management alone.[53] Endovascular treatment for paraanastomotic aneurysms after aortobiiliac reconstruction is also a possibility.[54] A 2017 Cochrane review found tentative evidence of no difference in outcomes between endovascular and open repair of ruptured AAA in the first month.[55]
### Rupture[edit]
In those with aortic rupture of the AAA, treatment is immediate surgical repair. There appears to be benefits to allowing permissive hypotension and limiting the use of intravenous fluids during transport to the operating room.[56]
## Prognosis[edit]
AAA Size (cm) Growth rate (cm/yr)[57] Annual rupture risk (%)[58]
3.0-3.9 0.39 0
4.0-4.9 0.36 0.5-5
5.0-5.9 0.43 3-15
6.0-6.9 0.64 10-20
>=7.0 \- 20-50
Although the current standard of determining rupture risk is based on maximum diameter, it is known that smaller AAAs that fall below this threshold (diameter<5.5 cm) may also rupture, and larger AAAs (diameter>5.5 cm) may remain stable.[59][60] In one report, it was shown that 10–24% of ruptured AAAs were less than 5 cm in diameter.[60] It has also been reported that of 473 non-repaired AAAs examined from autopsy reports, there were 118 cases of rupture, 13% of which were less than 5 cm in diameter. This study also showed that 60% of the AAAs greater than 5 cm (including 54% of those AAAs between 7.1 and 10 cm) never experienced rupture.[61] Vorp et al. later deduced from the findings of Darling et al. that if the maximum diameter criterion were followed for the 473 subjects, only 7% (34/473) of cases would have succumbed to rupture prior to surgical intervention as the diameter was less than 5 cm, with 25% (116/473) of cases possibly undergoing unnecessary surgery since these AAAs may never have ruptured.[61]
Alternative methods of rupture assessment have been recently reported. The majority of these approaches involve the numerical analysis of AAAs using the common engineering technique of the finite element method (FEM) to determine the wall stress distributions. Recent reports have shown that these stress distributions have been shown to correlate to the overall geometry of the AAA rather than solely to the maximum diameter.[62][63][64] It is also known that wall stress alone does not completely govern failure as an AAA will usually rupture when the wall stress exceeds the wall strength. In light of this, rupture assessment may be more accurate if both the patient-specific wall stress is coupled together with patient-specific wall strength. A non-invasive method of determining patient-dependent wall strength was recently reported,[65] with more traditional approaches to strength determination via tensile testing performed by other researchers in the field.[66][67][68] Some of the more recently proposed AAA rupture-risk assessment methods include: AAA wall stress;[29][69][70] AAA expansion rate;[71] degree of asymmetry;[64] presence of intraluminal thrombus (ILT);[72] a rupture potential index (RPI);[73][74] a finite element analysis rupture index (FEARI);[75] biomechanical factors coupled with computer analysis;[76] growth of ILT;[77] geometrical parameters of the AAA;[78] and also a method of determining AAA growth and rupture based on mathematical models.[79][80]
The post-operative mortality for an already ruptured AAA has slowly decreased over several decades but remains higher than 40%.[81] However, if the AAA is surgically repaired before rupture, the post-operative mortality rate is substantially lower: approximately 1-6%.[82]
## Epidemiology[edit]
The occurrence of AAA varies by ethnicity. In the United Kingdom the rate of AAA in Caucasian men older than 65 years is about 4.7%, while in Asian men it is 0.45%.[83] It is also less common in individuals of African, and Hispanic heritage.[1] They occur four times more often in men than women.[1]
There are at least 13,000 deaths yearly in the U.S. secondary to AAA rupture.[1] The peak number of new cases per year among males is around 70 years of age, the percentage of males affected over 60 years is 2–6%. The frequency is much higher in smokers than in non-smokers (8:1), and the risk decreases slowly after smoking cessation.[84] In the U.S., the incidence of AAA is 2–4% in the adult population.[16]
Rupture of the AAA occurs in 1–3% of men aged 65 or more, the mortality is 70–95%.[36]
## History[edit]
The first historical records about AAA are from Ancient Rome in the 2nd century AD, when Greek surgeon Antyllus tried to treat the AAA with proximal and distal ligature, central incision and removal of thrombotic material from the aneurysm. However, attempts to treat the AAA surgically were unsuccessful until 1923. In that year, Rudolph Matas (who also proposed the concept of endoaneurysmorrhaphy), performed the first successful aortic ligation on a human.[85] Other methods that were successful in treating the AAA included wrapping the aorta with polyethene cellophane, which induced fibrosis and restricted the growth of the aneurysm. Endovascular aneurysm repair was first performed in the late 1980s and has been widely adopted in the subsequent decades. Endovascular repair was first used for treating a ruptured aneurysm in Nottingham in 1994.[86]
## Society and culture[edit]
Theoretical physicist Albert Einstein was operated on for an abdominal aortic aneurysm in 1949 by Rudolph Nissen, who wrapped the aorta with polyethene cellophane. Einstein's aneurysm ruptured on April 13, 1955. He declined surgery, saying, "I want to go when I want. It is tasteless to prolong life artificially. I have done my share, it is time to go. I will do it elegantly." He died five days later at age 76.[87]
Actress Lucille Ball died April 26, 1989 from an abdominal aortic aneurysm. At the time of her death, she was in Cedars-Sinai Medical Center recovering from emergency surgery performed just six days earlier because of a dissecting aortic aneurysm near her heart. Ball was at increased risk, as she had been a heavy smoker for decades.[88]
Musician Conway Twitty died in June 1993 from an abdominal aortic aneurysm, aged 59, two months before the release of what would be his final studio album, Final Touches.
Actor George C. Scott died in 1999 from a ruptured abdominal aortic aneurysm at age 71.
In 2001 former presidential candidate Bob Dole underwent surgery for an abdominal aortic aneurysm in which a team led by vascular surgeon Kenneth Ouriel inserted a stent graft:[89]
> Ouriel said that the team inserted a Y-shaped tube through an incision in Dole's leg and placed it inside the weakened portion of the aorta. The aneurysm will eventually contract around the stent, which will remain in place for the rest of Dole's life.[89]
— Associated Press
Actor Robert Jacks, who played Leatherface in Texas Chainsaw Massacre: The Next Generation, died from an abdominal aneurysm on August 8, 2001, just one day shy of his 42nd birthday. His father also died from the same cause when Robert was a child.
Actor Tommy Ford died of abdominal aneurysm in October 2016 at 52 years old.[90]
## Research[edit]
### Risk assessment[edit]
There have been many calls for alternative approaches to rupture risk assessment over the past number of years, with many believing that a biomechanics-based approach may be more suitable than the current diameter approach. Numerical modeling is a valuable tool to researchers allowing approximate wall stresses to be calculated, thus revealing the rupture potential of a particular aneurysm. Experimental models are required to validate these numerical results and provide a further insight into the biomechanical behavior of the AAA. In vivo, AAAs exhibit a varying range of material strengths[91] from localised weak hypoxic regions[92] to much stronger regions and areas of calcifications.[93]
Finding ways to predict future AAA growth is seen as a research priority.[94]
### Experimental models[edit]
Experimental models can now be manufactured using a novel technique involving the injection-moulding lost-wax manufacturing process to create patient-specific anatomically correct AAA replicas.[95] Work has also focused on developing more realistic material analogues to those in vivo, and recently a novel range of silicone-rubbers was created allowing the varying material properties of the AAA to be more accurately represented.[96] These rubber models can also be used in a variety of experimental situations, from stress analysis using the photoelastic method[97] to determining whether the locations of rupture experimentally correlate with those predicted numerically.[98] New endovascular devices are being developed that are able to treat more complex and tortuous anatomies.[99]
### Prevention and treatment[edit]
An animal study showed that removing a single protein prevents early damage in blood vessels from triggering a later-stage, complications. By eliminating the gene for a signaling protein called cyclophilin A (CypA) from a strain of mice, researchers were able to provide complete protection against abdominal aortic aneurysm.[100]
Other recent research identified Granzyme B (GZMB) (a protein-degrading enzyme) to be a potential target in the treatment of abdominal aortic aneurysms. Elimination of this enzyme in mice models both slowed the progression of aneurysms and improved survival.[101][102]
## References[edit]
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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
## External links[edit]
Classification
D
* ICD-10: I71.3, I71.4
* ICD-9-CM: 441.3, 441.4
* OMIM: 100070
* MeSH: D017544
* DiseasesDB: 792
External resources
* MedlinePlus: 000162
* eMedicine: med/3443 emerg/27 radio/1
* Cochrane Peripheral Vascular Diseases Review Group
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Abdominal aortic aneurysm
|
c0162871
| 25,382 |
wikipedia
|
https://en.wikipedia.org/wiki/Abdominal_aortic_aneurysm
| 2021-01-18T18:36:49 |
{"gard": ["9181"], "mesh": ["D017544"], "umls": ["C0162871"], "icd-9": ["441.3", "441.4"], "icd-10": ["I71.3", "I71.4"], "wikidata": ["Q2256736"]}
|
The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.
## Epidemiology
The syndrome affects predominantly males. The prevalence in the general population is not known.
## Clinical description
Patients present tall stature, long hyper-extensible fingers and toes, short halluces and long second toes. Patients have mild to moderate intellectual disability. Craniofacial features include long forehead, long narrow face, maxillary hypoplasia, small mandible, long nose with high and narrow nasal bridge, short and deep philtrum, thin upper lip and highly arched palate. The marfanoid stature becomes evident after puberty. In adulthood, patients are tall but height is in the normal range. A hypernasal voice and generalized hypotonia are often present. Secondary sexual development and testicular size are normal. Behavioral features include emotional instability, hyperactivity and shyness. Psychiatric disorders such as psychotic disturbances with hallucinatory visions and sounds, and schizophrenia can be present.
## Etiology
The Lujan-Fryns syndrome is a developmental disorder of genetic origin. In the original Lujan family, a novel missense mutation in the mediator complex subunit 12, MED12 gene (Xq13) was found as the cause of Lujan-Fryns syndrome. Defects in this gene also cause FG syndrome (see this term). In some cases, mutations in the UPF3B gene (Xq25-q26) and in the ZDHHC9 gene (Xq26.1) have been reported in XLMR with marfanoid habitus.
## Diagnostic methods
Diagnosis is based on the clinical manifestations and can be confirmed by the presence of the missense mutation in the MED12 gene. However, the frequency of the presence of a mutation in patients with the clinical diagnosis of Lujan-Fryns syndrome is not known.
## Differential diagnosis
Differential diagnosis includes the fragile X syndrome (molecular analysis of the FMR-1 gene), Marfan syndrome (cardiac and ophthalmologic examination) (see these terms), and homocystinuria (biochemical analysis). Lujan-Fryns syndrome should be considered in the differential diagnosis of schizophrenia.
## Antenatal diagnosis
There is currently no specific prenatal test for this condition. However, prenatal diagnosis for at-risk pregnancies first requires identification of the mutations in the family. Molecular analysis of the MED12 gene in chorionic villus samples is possible.
## Genetic counseling
Genetic counseling, based on the X-linked mode of inheritance, should be offered to patients with a prior identified MED12 gene mutation.
## Management and treatment
There is no specific treatment for this condition. Patients require specialized education and psychological follow-up. Psychiatric disorders (psychosis) should be diagnosed as early as possible.
## Prognosis
Data on life expectancy are not available as most reports describe patients in adolescence and young adulthood. Special attention should be given to comorbidity and behavioral problems.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
X-linked intellectual disability with marfanoid habitus
|
c0796022
| 25,383 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=776
| 2021-01-23T17:30:55 |
{"gard": ["3307"], "mesh": ["C537724"], "omim": ["300676", "300799", "309520"], "umls": ["C0796022"], "icd-10": ["Q87.8"], "synonyms": ["Lujan syndrome", "Lujan-Fryns syndrome"]}
|
Abnormal shortness of the upper arms and thighs
Rhizomelia refers to either a disproportion of the length of the proximal limb, such as the shortened limbs of achondroplasia, or some other disorder of the hip or shoulder.
According to Stedman's medical dictionary "rhizomelic" means "relating to hip or shoulder joints", while "micromelic" means "having disproportionately short or small limbs".[1]
## See also[edit]
* Amelia (birth defect)
* Rhizomelic chondrodysplasia punctata
## References[edit]
1. ^ "Archived copy". Archived from the original on 2007-04-28. Retrieved 2007-04-26.CS1 maint: archived copy as title (link)
## External links[edit]
* Photo (click on link under "Pattern of Shortening")
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
|
Rhizomelia
|
c1866730
| 25,384 |
wikipedia
|
https://en.wikipedia.org/wiki/Rhizomelia
| 2021-01-18T18:46:22 |
{"wikidata": ["Q7320759"]}
|
Termination of pregnancy in Mississippi, United States
Abortion in Mississippi is legal[citation needed]. 36% of adults said in a poll by the Pew Research Center that abortion should be legal in all or most cases.
The number of abortion clinics have been declining in recent years, going from thirteen in 1982 to eight in 1992 to one since 2006 with that number remaining level as of 2019. There were 2,303 legal abortions in 2014, and 2,613 in 2015. Most women went out of state to get a legal abortion.
## Contents
* 1 Terminology
* 2 Context
* 3 History
* 3.1 Legislative history
* 3.2 Ballot box history
* 3.3 Judicial history
* 3.4 Clinic history
* 4 Statistics
* 5 Women's abortion experiences
* 6 Abortion rights views and activities
* 6.1 Organizations
* 6.2 Funding
* 6.3 Protests
* 7 Anti-abortion rights views and activities
* 7.1 Activities
* 7.2 Violence
* 8 Footnotes
* 9 References
## Terminology[edit]
Main article: Abortion
The abortion debate most commonly relates to the "induced abortion" of an embryo or fetus at some point in a pregnancy, which is also how the term is used in a legal sense.[note 1] Some also use the term "elective abortion", which is used in relation to a claim to an unrestricted right of a woman to an abortion, whether or not she chooses to have one. The term elective abortion or voluntary abortion describes the interruption of pregnancy before viability at the request of the woman, but not for medical reasons.[1]
Anti-abortion advocates tend to use terms such as "unborn baby", "unborn child", or "pre-born child",[2][3] and see the medical terms "embryo", "zygote", and "fetus" as dehumanizing.[4][5] Both "pro-choice" and "pro-life" are examples of terms labeled as political framing: they are terms which purposely try to define their philosophies in the best possible light, while by definition attempting to describe their opposition in the worst possible light. "Pro-choice" implies that the alternative viewpoint is "anti-choice", while "pro-life" implies the alternative viewpoint is "pro-death" or "anti-life".[6] The Associated Press encourages journalists to use the terms "abortion rights" and "anti-abortion".[7]
## Context[edit]
See also: Abortion in the United States
Free birth control correlates to teenage girls having a fewer pregnancies and fewer abortions. A 2014 New England Journal of Medicine study found such a link. At the same time, a 2011 study by Center for Reproductive Rights and Ibis Reproductive Health also found that states with more abortion restrictions have higher rates of maternal death, higher rates of uninsured pregnant women, higher rates of infant and child deaths, higher rates of teen drug and alcohol abuse, and lower rates of cancer screening.[8] The study singled out Oklahoma, Mississippi and Kansas as being the most restrictive states that year, followed by Arkansas and Indiana for second in terms of abortion restrictions, and Florida, Arizona and Alabama in third for most restrictive state abortion requirements.[8]
According to a 2017 report from the Center for Reproductive Rights and Ibis Reproductive Health, states that tried to pass additional constraints on a women's ability to access legal abortions had fewer policies supporting women's health, maternal health and children's health. These states also tended to resist expanding Medicaid, family leave, medical leave, and sex education in public schools.[9] In 2017, Georgia, Ohio, Missouri, Louisiana, Alabama and Mississippi have among the highest rates of infant mortality in the United States.[9] In 2017, Mississippi had an infant mortality rate of 8.6 deaths per 1,000 live births.[9] Medicaid expansion under the Affordable Care Act was rejected by Alabama, Georgia, Mississippi and Missouri. Consequently, poor women in the typical age range to become mothers had a gap in coverage for prenatal care. According to Georgetown University Center for Children and Families research professor Adam Searing, "The uninsured rate for women of childbearing age is nearly twice as high in states that have not expanded Medicaid. [...] That means a lot more women who don't have health coverage before they get pregnant or after they have their children. [...] If states would expand Medicaid coverage, they would improve the health of mothers and babies and save lives."[9] According to the 2018 Premature Birth Report Cards, Louisiana, Mississippi and Alabama were all given an F.[9] According to the 2018 America's Health Rankings produced by United Health Foundation, Mississippi ranked 32nd in the country when it came to maternal mortality.[9] A 2018 March of Dimes report said the preterm birth rate among African American women in Mississippi was much higher, 44% higher, than women of all other races in the state.[9]
Poor women in the United States had problems paying for menstrual pads and tampons in 2018 and 2019. Almost two-thirds of American women could not pay for them. These were not available through the federal Women, Infants, and Children Program (WIC).[10] Lack of menstrual supplies has an economic impact on poor women. A study in St. Louis found that 36% had to miss days of work because they lacked adequate menstrual hygiene supplies during their period. This was on top of the fact that many had other menstrual issues including bleeding, cramps and other menstrual induced health issues.[10] This state was one of a majority that taxed essential hygiene products like tampons and menstrual pads as of November 2018.[11][12][13][14]
## History[edit]
In recent years, white women have played a major role in helping Republican male anti-abortion rights candidates get elected. In 2018, around 84% of white women voted for Republican senate candidate and not for Democratic senatorial candidate Democrat Democrat Mike Espy. 93% of black women voted for Espy.[15] One of the biggest groups of women who oppose legalized abortion in the United States are southern white evangelical Christians. These women voted overwhelming for Trump, with 80% of these voters supporting him at the ballot box in 2016. In November 2018, during US House exit polling, 75% of southern white evangelical Christian women indicated they supported Trump and only 20% said they voted for Democratic candidates.[15]
### Legislative history[edit]
Fetal heartbeat bills by state, including time limit without exceptions marked:
Heartbeat bill passed (to go into effect)
Law partially passed by state legislature
Law blocked by court order
By the end of the 1800s, all states in the Union except Louisiana had therapeutic exceptions in their legislative bans on abortions.[16] In the 19th century, bans by state legislatures on abortion were about protecting the life of the mother given the number of deaths caused by abortions; state governments saw themselves as looking out for the lives of their citizens.[16]
In 1966, the Mississippi legislature made abortion legal in cases of rape.[17] By the end of 1972, Mississippi allowed abortion in cases of rape or incest only and Alabama and Massachusetts allowed abortions only in cases where the woman's physical health was endangered. In order to obtain abortions during this period, women would often travel from a state where abortion was illegal to states where it was legal.[18] Mississippi passed a parental consent law in the early 1990s. This law impacted when minors sought abortions, resulting in an increase of 19% for abortions sought after 12 weeks.[19][20]
On February 27, 2006, Mississippi's House Public Health Committee voted to approve a ban on abortion, but that bill died after the House and Senate failed to agree on compromise legislation.[21] The state was one of 23 states in 2007 to have a detailed abortion-specific informed consent requirement.[22] Mississippi, Nebraska, North Dakota and Ohio all had statutes in 2007 that required specific informed consent on abortion but also, by statute, allowed medical doctors performing abortions to disassociate themselves with the anti-abortion materials they were required to provide to their female patients.[23] By law, abortion providers in Alabama, Louisiana and Mississippi were required to perform ultrasounds before providing women with ultrasounds, even in situations like in the first trimester where an ultrasound has no medical necessity.[23] Some states, such as Alaska, Mississippi, West Virginia, Texas, and Kansas, have passed laws requiring abortion providers to warn patients of a link between abortion and breast cancer, and to issue other scientifically unsupported warnings.[24][25][23] On November 8, 2011, the Personhood amendment, to define personhood as beginning "at the moment of fertilization, cloning, or the functional equivalent thereof," was rejected by 55 percent of voters.[26][27]
In 2013, state Targeted Regulation of Abortion Providers (TRAP) law applied to medication induced abortions and private doctor offices in addition to abortion clinics.[28] The state legislature was one of five states nationwide that tried, and failed, to pass a fetal heartbeat bill in 2013. Only North Dakota successfully passed such a law but it was later struck down by the courts.[27] In 2013, the state was one of five where the legislature introduced a bill that would have banned abortion in almost all cases. It did not pass. They tried and failed again in 2015, 2017 and 2018, where they were one of five, one of six, and one in eleven respectively.[29] The state legislature was one of four states nationwide that tried, and failed, to pass a fetal heartbeat bill in 2012.[27] In 2012, the Mississippi State Legislature passed a law that required abortion clinics to have doctors on staff with hospital admitting privileges. This almost led to the closure of the state's only abortion clinic.[30]
The state legislature was one of eight states nationwide that tried, and failed, to pass a fetal heartbeat bill in 2017.[27] In 2018, the Mississippi House passed a bill that outlawed abortion after 15 weeks.[31] The state had a law on the books in August 2018 that would be triggered if Roe v. Wade was overturned.[32] In 2018, three heartbeat bills were filed in Mississippi; all of which died in committee.[33][34][35][27] In 2017, three heartbeat bills were filed in Mississippi; all of which died in committee.[36][37][38] In 2014, Sen. Joey Fillingane, filed a heartbeat bill in the Mississippi State Senate.[39] The bill died in committee.[40] In 2013, HB 6, was introduced in January and died in committee on February 5, 2013.[41] Another fetal heartbeat bill filed in 2019, HB 529 by Robert Foster died the House Judiciary A Committee on February 5, 2019.[42] Three fetal heartbeat bills were filed in the Mississippi Legislature in January 2019.[43] SB 2116, by Sen. Angela Burks Hill was referred to the Public Health and Welfare Committee on January 11, 2019.[44] HB 732, by Rep. Chris Borwn was referred to the Public Health and Human Services Committee on January 17, 2019.[45] After passing out of their respective committees on February 5, 2019,[43] both SB 2116 and HB 732, were passed out of the Mississippi Senate and Mississippi House on February 13, 2019.[46] On March 19, 2019, the Senate concurred in the House amendments to SB 2116,[47] and on March 22, 2019 the fetal heartbeat bill was signed into law by Mississippi Governor Phil Bryant.[48]
In 2020, a law was enacted in Mississippi banning abortions based on the sex, race, or genetic abnormality of the fetus.[49]
### Ballot box history[edit]
In the 2011 election season, Mississippi placed an amendment on the ballot that redefine how the state viewed abortion. The personhood amendment defined personhood as "every human being from the moment of fertilization, cloning or the functional equivalent thereof". If passed, it would have been illegal to get an abortion in the state.[50]
### Judicial history[edit]
The US Supreme Court's decision in 1973's Roe v. Wade ruling meant the state could no longer regulate abortion in the first trimester.[16] On July 11, 2012, a Mississippi federal judge ordered an extension of his temporary order to allow the state's only abortion clinic to stay open. The order will stay in place until U.S. District Judge Daniel Porter Jordan III can review newly drafted rules on how the Mississippi Department of Health will administer a new abortion law. The law in question came into effect on July 1, 2012.[51] On March 20, 2018, a federal district court in Mississippi enacted a temporary, 10-day ban of the enforcement of a new state law that prohibits the performance of an abortion once the gestational age of the fetus is greater than 15 weeks.[52][53][54]
### Clinic history[edit]
See also: Abortion clinic
Total number of abortion clinics by year in Mississippi.
In the 1980s, there were around a dozen operating abortion clinics in the state.[30] Between 1982 and 1992, the number of abortion clinics in the state decreased by five, going from thirteen in 1982 to eight in 1992.[55] Since around 2006, Jackson Women's Health has been the only operating abortion clinic in Mississippi.[30] In 2010, the color of the building changed from beige to hot pink after the building was acquired by a new owner.[30]
In 2012, Jackson Women's Health almost closed as a result of a new state law being passed that required the clinic to have medical staff with hospital admitting privileges. None of the hospitals in Jackson wanted to give the qualified OB-GYNs on staff at the clinic those privileges. They were only saved at the last minute after a judge ruled in their favor.[30] In 2014, there was still only one abortion clinics in Mississippi.[56] 99% of the counties in the state did not have an abortion clinic. That year, 91% of women in the state aged 15 – 44 lived in a county without an abortion clinic.[57] Around 90% of Jackson Women's Health services were abortion related in 2017. They saw around 30 to 40 patients per week.[30] In 2017, there was one Planned Parenthood clinics in a state with a population of 694,045 women aged 15 – 49 of which 0 offered abortion services.[32] North Dakota, Wyoming, Mississippi, Louisiana and Kentucky were the only five states as of July 21, 2017 not to have a Planned Parenthood clinic that offered abortion services.[32] In May 2019, there was still only one abortion clinic in the state.[58] The state was one of six states in that position.[59]
## Statistics[edit]
In the period between 1972 and 1974, the state had an illegal abortion mortality rate per million women aged 15 – 44 of between 0.1 and 0.9.[60] In 1990, 289,000 women in the state faced the risk of an unintended pregnancy.[55] In 2010, the state had zero publicly funded abortions.[61] In 2014, 36% of adults said in a poll by the Pew Research Center that abortion should be legal in all or most cases.[62] 59% of people in Alabama said abortion should be "illegal in all or most cases."[63] According to a 2014 Public Religion Research Institute (PRRI) study, 60% of white women, the same percentage as white men, in the state believed that abortion be illegal in all or most cases.[15] In 2017, medical and surgical abortions were split at around 50% each.[30]
Number of reported abortions, abortion rate and percentage change in rate by geographic region and state in 1992, 1995 and 1996[64] Census division and state Number Rate % change 1992–1996
1992 1995 1996 1992 1995 1996
Total 1,528,930 1,363,690 1,365,730 25.9 22.9 22.9 –12
East South Central 54,060 44,010 46,100 14.9 12 12.5 –17
Alabama 17,450 14,580 15,150 18.2 15 15.6 –15
Kentucky 10,000 7,770 8,470 11.4 8.8 9.6 –16
Mississippi 7,550 3,420 4,490 12.4 5.5 7.2 –42
Tennessee 19,060 18,240 17,990 16.2 15.2 14.8 –8
Number, rate, and ratio of reported abortions, by reporting area of residence and occurrence and by percentage of abortions obtained by out-of-state residents, US CDC estimates Location Residence Occurrence % obtained by
out-of-state residents
Year Ref
No. Rate^ Ratio^^ No. Rate^ Ratio^^
Mississippi 7,550 12.4 1992 [64]
Mississippi 3,420 5.5 1995 [64]
Mississippi 4,490 7.2 1996 [64]
Mississippi 5,104 8.5 132 2,303 3.8 59 3.6 2014 [65]
Mississippi 4,699 7.8 122 2,613 4.4 68 5.1 2015 [66]
Mississippi 4,708 7.9 124 2,569 4.3 68 6.3 2016 [67]
^number of abortions per 1,000 women aged 15–44; ^^number of abortions per 1,000 live births
## Women's abortion experiences[edit]
Mississippi local Laurie Bertram Roberts had an abortion after already having several children. During an ultrasound, she discovered that the fetus was not viable; she had two options: wait to miscarry or have an abortion. She said of reaching this point, "I realized then I'm not actually better or different. [...] I was sitting in the waiting room with all of these women who were just as scared as me. None of us looked like we wanted to be there. Some looked ready to get it over with. Life brought us to be at this spot, on this day, and it wasn't a value judgment."[58]
## Abortion rights views and activities[edit]
Women's March in Jackson, Mississippi, USA in 2017.
### Organizations[edit]
Mississippi Reproductive Freedom Fund assists women, primarily African American women, who need financial assistance to pay for an abortion by providing such assistance. It was founded by Laurie Bertram Roberts.[58]
### Funding[edit]
After Mississippi passed abortion restrictions in 2019, Mississippi Reproductive Freedom Fund received a huge number of donations in the course of a single week totaling more than US$14,000.[68]
### Protests[edit]
Women from the state participated in marches supporting abortion rights as part of a #StoptheBans movement in May 2019.[69]
## Anti-abortion rights views and activities[edit]
### Activities[edit]
During the 1980s and 1990s, anti-abortion rights activists would move around, protesting at different clinics around Jackson; they did not always protest at the same clinic on a day in and day out basis.[30]
In 2017, Jackson Women's Health had around 10 protesters outside their clinic on a daily basis.[30]
### Violence[edit]
The Jackson Women's Health has been robbed several times. It also has had anti-abortion rights activists vandalize their cameras and their generator.[30]
## Footnotes[edit]
1. ^ According to the Supreme Court's decision in Roe v. Wade:
> (a) For the stage prior to approximately the end of the first trimester, the abortion decision and its effectuation must be left to the medical judgement of the pregnant woman's attending physician. (b) For the stage subsequent to approximately the end of the first trimester, the State, in promoting its interest in the health of the mother, may, if it chooses, regulate the abortion procedure in ways that are reasonably related to maternal health. (c) For the stage subsequent to viability, the State in promoting its interest in the potentiality of human life may, if it chooses, regulate, and even proscribe, abortion except where it is necessary, in appropriate medical judgement, for the preservation of the life or health of the mother.
Likewise, Black's Law Dictionary defines abortion as "knowing destruction" or "intentional expulsion or removal".
## References[edit]
1. ^ Watson, Katie (20 Dec 2019). "Why We Should Stop Using the Term "Elective Abortion"". AMA Journal of Ethics. 20: E1175-1180. doi:10.1001/amajethics.2018.1175. PMID 30585581. Retrieved 17 May 2019.
2. ^ Chamberlain, Pam; Hardisty, Jean (2007). "The Importance of the Political 'Framing' of Abortion". The Public Eye Magazine. 14 (1).
3. ^ "The Roberts Court Takes on Abortion". New York Times. November 5, 2006. Retrieved January 18, 2008.
4. ^ Brennan 'Dehumanizing the vulnerable' 2000
5. ^ Getek, Kathryn; Cunningham, Mark (February 1996). "A Sheep in Wolf's Clothing – Language and the Abortion Debate". Princeton Progressive Review.
6. ^ "Example of "anti-life" terminology" (PDF). Archived from the original (PDF) on 2011-07-27. Retrieved 2011-11-16.
7. ^ Goldstein, Norm, ed. The Associated Press Stylebook. Philadelphia: Basic Books, 2007.
8. ^ a b Castillo, Stephanie (2014-10-03). "States With More Abortion Restrictions Hurt Women's Health, Increase Risk For Maternal Death". Medical Daily. Retrieved 2019-05-27.
9. ^ a b c d e f g "States pushing abortion bans have highest infant mortality rates". NBC News. Retrieved 2019-05-25.
10. ^ a b Mundell, E.J. (January 16, 2019). "Two-Thirds of Poor U.S. Women Can't Afford Menstrual Pads, Tampons: Study". US News & World Report. Retrieved May 26, 2019.
11. ^ Larimer, Sarah (January 8, 2016). "The 'tampon tax,' explained". The Washington Post. Archived from the original on December 11, 2016. Retrieved December 10, 2016.
12. ^ Bowerman, Mary (July 25, 2016). "The 'tampon tax' and what it means for you". USA Today. Archived from the original on December 11, 2016. Retrieved December 10, 2016.
13. ^ Hillin, Taryn. "These are the U.S. states that tax women for having periods". Splinter. Retrieved 2017-12-15.
14. ^ "Election Results 2018: Nevada Ballot Questions 1-6". KNTV. Retrieved 2018-11-07.
15. ^ a b c Brownstein, Ronald (2019-05-23). "White Women Are Helping States Pass Abortion Restrictions". The Atlantic. Retrieved 2019-05-26.
16. ^ a b c Buell, Samuel (1991-01-01). "Criminal Abortion Revisited". New York University Law Review. 66: 1774–1831.
17. ^ Tyler, C. W. (1983). "The public health implications of abortion". Annual Review of Public Health. 4: 223–258. doi:10.1146/annurev.pu.04.050183.001255. ISSN 0163-7525. PMID 6860439.
18. ^ Kliff, Sarah (January 22, 2013). "CHARTS: How Roe v. Wade changed abortion rights". The Washington Post.
19. ^ Adolescence, Committee On (2017-02-01). "The Adolescent's Right to Confidential Care When Considering Abortion". Pediatrics. 139 (2): e20163861. doi:10.1542/peds.2016-3861. ISSN 0031-4005. PMID 28115537.
20. ^ Henshaw, Stanley K. (May 1995). "The Impact of Requirements for Parental Consent on Minors' Abortions in Mississippi". Family Planning Perspectives. 27 (3): 120–122. doi:10.2307/2136110. ISSN 0014-7354. JSTOR 2136110.
21. ^ MacIntyre, Krystal. "Mississippi abortion ban bill fails as legislators miss deadline for compromise", Jurist News Archive (2006-03-28). Retrieved 2007-01-23.
22. ^ "State Policy On Informed Consent for Abortion" (PDF). Guttmacher Policy Review. Fall 2007. Retrieved May 22, 2019.
23. ^ a b c "State Abortion Counseling Policies and the Fundamental Principles of Informed Consent". Guttmacher Institute. 2007-11-12. Retrieved 2019-05-22.
24. ^ "Do abortions cause breast cancer? Kansas State House Abortion Act invokes shaky science for political gain". Slate Magazine. Retrieved 28 June 2015.
25. ^ "Misinformed Consent: The Medical Accuracy of State-Developed Abortion Counseling Materials". 25 October 2006.
26. ^ Curry, Tom. MSNBC.com ""Archived copy". Archived from the original on 2011-11-09. Retrieved 2011-11-09.CS1 maint: archived copy as title (link)". Retrieved 2011-11-9.
27. ^ a b c d e Lai, K. K. Rebecca (2019-05-15). "Abortion Bans: 8 States Have Passed Bills to Limit the Procedure This Year". The New York Times. ISSN 0362-4331. Retrieved 2019-05-24.
28. ^ "TRAP Laws Gain Political Traction While Abortion Clinics—and the Women They Serve—Pay the Price". Guttmacher Institute. 2013-06-27. Retrieved 2019-05-27.
29. ^ Tavernise, Sabrina (2019-05-15). "'The Time Is Now': States Are Rushing to Restrict Abortion, or to Protect It". The New York Times. ISSN 0362-4331. Retrieved 2019-05-24.
30. ^ a b c d e f g h i j McCann, Allison (May 23, 2017). "Seven states have only one remaining abortion clinic. We talked to the people keeping them open". Vice News. Retrieved 2019-05-23.
31. ^ "State legislatures see flurry of activity on abortion bills". PBS NewsHour. 2018-02-03. Retrieved 2019-05-26.
32. ^ a b c "Here's Where Women Have Less Access to Planned Parenthood". Retrieved 2019-05-23.
33. ^ "MS HB226 - 2018 - Regular Session". LegiScan.
34. ^ "MS SB2143 - 2018 - Regular Session". LegiScan.
35. ^ "MS HB1509 - 2018 - Regular Session". LegiScan.
36. ^ "MS HB1198 - 2017 - Regular Session". LegiScan.
37. ^ "MS SB2562 - 2017 - Regular Session". LegiScan.
38. ^ "MS SB2584 - 2017 - Regular Session". LegiScan.
39. ^ "2014 Regular Session - Senate Bill 2807". Mississippi Legislative Bill Status System. Retrieved February 9, 2019.
40. ^ "MS SB2807 - 2014 - Regular Session". LegiScan.
41. ^ "MS HB6 - 2013 - Regular Session". LegiScan.
42. ^ "2019 Regular Session - House Bill 529". Mississippi Legislative Bill Status System. Retrieved February 9, 2019.
43. ^ a b Ulmer, Sarah (February 5, 2019). "House and Senate pass HeartBeat bills out of Committee". Yall Politics. Retrieved February 9, 2019.
44. ^ "2019 Regular Session - Senate Bill 2116". Mississippi Legislative Bill Status System. Retrieved February 9, 2019.
45. ^ "2019 Regular Session - House Bill 732". Mississippi Legislative Bill Status System. Retrieved February 9, 2019.
46. ^ Wagster Pettus, Emily (February 13, 2019). "Mississippi advances ban on abortion after fetal heartbeat". The Washington Post. Retrieved February 14, 2019. "The Republican-controlled Mississippi House and Senate passed separate bills Wednesday to ban most abortions once a fetal heartbeat is detected, about six weeks into pregnancy."
47. ^ "Fetal heartbeat bill heads to governor". WTOK 11 (ABC). March 19, 2019. Retrieved March 19, 2019.
48. ^ Singman, Brooke (March 22, 2019). "Mississippi Gov. Bryant signs 'heartbeat bill,' enacting one of strictest abortion laws in nation". Fox News. Retrieved March 23, 2019.
49. ^ "Mississippi bans abortion on sex, race, genetic disability". www.catholicnewsagency.com.
50. ^ "Mississippi 'Personhood' Amendment Vote Fails". Huffington Post. November 8, 2011.
51. ^ Phillips, Rich. "Judge lets Mississippi's only abortion clinic stay open -- for now". CNN.
52. ^ Shimabukuro, Jon O. (April 10, 2018). Mississippi Court Halts Enforcement of New Abortion Law (PDF). Washington, DC: Congressional Research Service. Retrieved 18 April 2018.
53. ^ Ly, Laura. "Judge temporarily blocks 15-week abortion ban in Mississippi". CNN. Retrieved 2018-06-30.
54. ^ Smith, Kate (May 13, 2019). "A pregnant 11-year-old rape victim in Ohio would no longer be allowed to have an abortion under new state law". CBS News. Retrieved May 14, 2019.
55. ^ a b Arndorfer, Elizabeth; Michael, Jodi; Moskowitz, Laura; Grant, Juli A.; Siebel, Liza (December 1998). A State-By-State Review of Abortion and Reproductive Rights. DIANE Publishing. ISBN 9780788174810.
56. ^ Gould, Rebecca Harrington, Skye. "The number of abortion clinics in the US has plunged in the last decade — here's how many are in each state". Business Insider. Retrieved 2019-05-23.
57. ^ businessinsider (2018-08-04). "This is what could happen if Roe v. Wade fell". Business Insider (in Spanish). Retrieved 2019-05-24.
58. ^ a b c "When it comes to abortion, conservative women aren't a monolith". USA Today. Retrieved 2019-05-26.
59. ^ Holly Yan. "These 6 states have only 1 abortion clinic left. Missouri could become the first with zero". CNN. Retrieved 2019-06-02.
60. ^ Cates, Willard; Rochat, Roger (March 1976). "Illegal Abortions in the United States: 1972–1974". Family Planning Perspectives. 8 (2): 86–92. doi:10.2307/2133995. JSTOR 2133995. PMID 1269687.
61. ^ "Guttmacher Data Center". data.guttmacher.org. Retrieved 2019-05-24.
62. ^ "Views about abortion by state - Religion in America: U.S. Religious Data, Demographics and Statistics". Pew Research Center. Retrieved 2019-05-23.
63. ^ Jr, Perry Bacon (2019-05-16). "Three Reasons There's A New Push To Limit Abortion In State Legislatures". FiveThirtyEight. Retrieved 2019-05-26.
64. ^ a b c d "Abortion Incidence and Services in the United States, 1995–1996". Guttmacher Institute. 2005-06-15. Retrieved 2019-06-02.
65. ^ Jatlaoui, Tara C. (2017). "Abortion Surveillance — United States, 2014". MMWR. Surveillance Summaries. 66 (24): 1–48. doi:10.15585/mmwr.ss6624a1. ISSN 1546-0738. PMID 29166366.
66. ^ Jatlaoui, Tara C. (2018). "Abortion Surveillance — United States, 2015". MMWR. Surveillance Summaries. 67 (13): 1–45. doi:10.15585/mmwr.ss6713a1. ISSN 1546-0738. PMC 6289084. PMID 30462632.
67. ^ Jatlaoui, Tara C. (2019). "Abortion Surveillance — United States, 2016". MMWR. Surveillance Summaries. 68. doi:10.15585/mmwr.ss6811a1. ISSN 1546-0738.
68. ^ Pesce, Nicole Lyn. "Abortion bans are spurring donations to Planned Parenthood, the National Organization for Women, and more". MarketWatch. Retrieved 2019-05-27.
69. ^ Bacon, John. "Abortion rights supporters' voices thunder at #StopTheBans rallies across the nation". USA Today. Retrieved 2019-05-25.
Abortion in the United States by state
States
* Alabama
* Alaska
* Arizona
* Arkansas
* California
* Colorado
* Connecticut
* Delaware
* Florida
* Georgia
* Hawaii
* Idaho
* Illinois
* Indiana
* Iowa
* Kansas
* Kentucky
* Louisiana
* Maine
* Maryland
* Massachusetts
* Michigan
* Minnesota
* Mississippi
* Missouri
* Montana
* Nebraska
* Nevada
* New Hampshire
* New Jersey
* New Mexico
* New York
* North Carolina
* North Dakota
* Ohio
* Oklahoma
* Oregon
* Pennsylvania
* Rhode Island
* South Carolina
* South Dakota
* Tennessee
* Texas
* Utah
* Vermont
* Virginia
* Washington
* West Virginia
* Wisconsin
* Wyoming
Federal district
Washington, D.C.
Insular areas
* American Samoa
* Guam
* Northern Mariana Islands
* Puerto Rico
* U.S. Virgin Islands
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Abortion in Mississippi
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None
| 25,385 |
wikipedia
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https://en.wikipedia.org/wiki/Abortion_in_Mississippi
| 2021-01-18T18:58:58 |
{"wikidata": ["Q64876930"]}
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Combined periodontic-endodontic lesions are localized, circumscribed areas of bacterial infection originating from either dental pulp, periodontal tissues surrounding the involved tooth or teeth or both.[1]
## Cause[edit]
Periapical readiograph of lower right teeth, showing a large carious lesion in the distal of the lower right second molar. The same tooth also has an extensive periodontal defect. At this stage, without further information, it is difficult to tell which process has occurred first and lead to the death of the pulp.
Combined periodontic-endodontic lesions take the form of abscesses and can originate from either or both of two distinct locations[1] and may be informally subclassified as follows:
1. Endo-Perio: infection from the pulp tissue within a tooth may spread into the bone immediately surrounding the tip, or apex, or the tooth root, forming a periapical abscess. This infection may then proliferate coronally to communicate with the margin of the alveolar bone and the oral cavity by spreading through the periodontal ligament.
2. Perio-Endo: infection from a periodontal pocket may proliferate via accessory canals into the root canal of the affected tooth, leading to pulpal inflammation. Accessory canals may not be big enough to allow bacterial penetration, periodontal disease must reach the apex to induce an endodontic lesion.
Neither the prognosis, treatment nor expected treatment outcome depend on the source of the infection.[2]
A combined lesion may also be the result of a fractured tooth.
## Treatment[edit]
Treatment includes conventional endodontic therapy followed by conventional periodontal therapy. If the lesion is deemed too severe for treatment, the involved tooth may require extraction.
## References[edit]
1. ^ a b American Academy of Periodontology (May 2000). "Parameter on acute periodontal diseases. American Academy of Periodontology" (PDF). J. Periodontol. 71 (5 Suppl): 863–6. doi:10.1902/jop.2000.71.5-S.863. PMID 10875694. Archived from the original (PDF) on 2010-11-28.
2. ^ American Academy of Periodontology (1999). "Consensus report: Periodontic-Endodontic Lesions". Ann. Periodontol. 4 (1): 90. doi:10.1902/annals.1999.4.1.90.
* 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
Acquired tooth disease
Hard tissues
* Caries (tooth decay)
* Attrition
* Abrasion
* Erosion
* Hypercementosis
* tooth resorption (External resorption, Internal resorption, Root resorption)
Pulp/periapical (Endodontal)
Pulpal
* External resorption
* Internal resorption
* Irreversible pulpitis
* Reversible pulpitis
* Pulp necrosis
* Pink tooth of Mummery
Periapical
* Acute apical periodontitis
* Chronic apical periodontitis
* Combined periodontic-endodontic lesions
* Fistula
* Periapical abscess
* Phoenix abscess
* Vertical root fracture
Ungrouped
* Pulpitis
* Radicular cyst
* Periapical abscess
Gingiva/periodontal
(Periodontal)
* Gingivitis
* Periodontitis (Chronic periodontitis)
* Periodontal disease
Bone cyst
* Dentigerous cyst
* Calcifying odontogenic cyst
* Glandular odontogenic cyst
Other
* Cracked tooth syndrome
To be grouped
from periodontology
Diagnoses
* Chronic periodontitis
* Localized aggressive periodontitis
* Generalized aggressive periodontitis
* Periodontitis as a manifestation of systemic disease
* Necrotizing periodontal diseases
* Abscesses of the periodontium
* Combined periodontic-endodontic lesions
Pathogenesis
* A. actinomycetemcomitans
* Capnocytophaga sp.
* F. nucleatum
* P. gingivalis
* P. intermedia
* T. forsythia
* T. denticola
Pathologic entities
* Calculus
* Edentulism
* Fremitus
* Furcation defect
* Gingival enlargement
* Gingival pocket
* Gingivitis
* Horizontal bony defect
* Linear gingival erythema
* Occlusal trauma
* Periodontal pocket
* Periodontal disease
* Periodontitis
* Plaque
* Recession
* Vertical bony defect
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Combined periodontic-endodontic lesions
|
None
| 25,386 |
wikipedia
|
https://en.wikipedia.org/wiki/Combined_periodontic-endodontic_lesions
| 2021-01-18T18:48:18 |
{"wikidata": ["Q2151923"]}
|
Circumvallate placent
SpecialtyObstetrics
Circumvallate placenta is a placental morphological abnormality, a subtype of placenta extrachorialis in which the fetal membranes (chorion and amnion) "double back" on the fetal side around the edge of the placenta.[1] After delivery, a circumvallate placenta has a thick ring of membranes on its fetal surface.[2]
The fetal surface is divided into a central depressed zone surrounded by a thickened white ring which is incomplete. The ring is situated at varying distance from the margin of the placenta. The ring is composed of a double fold of amnion and chorion with degenerated decidua vera and fibrin in between. Vessels radiate from the cord insertion as far as the ring and then disappear from the view. Complete circumvallate placenta occurs in approximately 1% of pregnancies.[1] It is diagnosed prenatally by medical ultrasonography, although one 1997 study of prenatal ultrasounds found that "of the normal placentas, 35% were graded as probably or definitely circumvallate by at least one sonologist," and "all sonologists misgraded the case of complete circumvallation as normal."[1] The condition is associated with perinatal complications such as placental abruption, oligohydramnios, abnormal cardiotocography, preterm birth, and miscarriage.[3]
## References[edit]
1. ^ a b c Harris, Robert D; Wells, Wendy A; Black, William C; Chertoff, Jocelyn D; Poplack, Steven P; Sargent, Steven K; Crow, Harte C (1997). "Accuracy of Prenatal Sonography for Detecting Circumvallate Placenta". American Journal of Roentgenology. 168 (6): 1603–8. doi:10.2214/ajr.168.6.9168736. PMID 9168736.
2. ^ Yetter, Joseph F (1998). "Examination of the Placenta". American Family Physician. 57 (5): 1045–54. PMID 9518951.
3. ^ Suzuki, Shunji (2007). "Clinical significance of pregnancies with circumvallate placenta". Journal of Obstetrics and Gynaecology Research. 34 (1): 51–4. doi:10.1111/j.1447-0756.2007.00682.x. PMID 18226129.
## External links[edit]
Classification
D
* ICD-10: O43.1
* DiseasesDB: 2726
* v
* t
* e
Pathology of pregnancy, childbirth and the puerperium
Pregnancy
Pregnancy with
abortive outcome
* Abortion
* Ectopic pregnancy
* Abdominal
* Cervical
* Interstitial
* Ovarian
* Heterotopic
* Embryo loss
* Fetal resorption
* Molar pregnancy
* Miscarriage
* Stillbirth
Oedema, proteinuria and
hypertensive disorders
* Gestational hypertension
* Pre-eclampsia
* HELLP syndrome
* Eclampsia
Other, predominantly
related to pregnancy
Digestive system
* Acute fatty liver of pregnancy
* Gestational diabetes
* Hepatitis E
* Hyperemesis gravidarum
* Intrahepatic cholestasis of pregnancy
Integumentary system /
dermatoses of pregnancy
* Gestational pemphigoid
* Impetigo herpetiformis
* Intrahepatic cholestasis of pregnancy
* Linea nigra
* Prurigo gestationis
* Pruritic folliculitis of pregnancy
* Pruritic urticarial papules and plaques of pregnancy (PUPPP)
* Striae gravidarum
Nervous system
* Chorea gravidarum
Blood
* Gestational thrombocytopenia
* Pregnancy-induced hypercoagulability
Maternal care related to the
fetus and amniotic cavity
* amniotic fluid
* Oligohydramnios
* Polyhydramnios
* Braxton Hicks contractions
* chorion / amnion
* Amniotic band syndrome
* Chorioamnionitis
* Chorionic hematoma
* Monoamniotic twins
* Premature rupture of membranes
* Obstetrical bleeding
* Antepartum
* placenta
* Circumvallate placenta
* Monochorionic twins
* Placenta accreta
* Placenta praevia
* Placental abruption
* Twin-to-twin transfusion syndrome
Labor
* Amniotic fluid embolism
* Cephalopelvic disproportion
* Dystocia
* Shoulder dystocia
* Fetal distress
* Locked twins
* Nuchal cord
* Obstetrical bleeding
* Postpartum
* Pain management during childbirth
* placenta
* Placenta accreta
* Preterm birth
* Postmature birth
* Umbilical cord prolapse
* Uterine inversion
* Uterine rupture
* Vasa praevia
Puerperal
* Breastfeeding difficulties
* Low milk supply
* Cracked nipples
* Breast engorgement
* Childbirth-related posttraumatic stress disorder
* Diastasis symphysis pubis
* Postpartum bleeding
* Peripartum cardiomyopathy
* Postpartum depression
* Postpartum psychosis
* Postpartum thyroiditis
* Puerperal fever
* Puerperal mastitis
Other
* Concomitant conditions
* Diabetes mellitus
* Systemic lupus erythematosus
* Thyroid disorders
* Maternal death
* Sexual activity during pregnancy
* Category
This article about a disorder arising in the perinatal period 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
|
Circumvallate placenta
|
c0266770
| 25,387 |
wikipedia
|
https://en.wikipedia.org/wiki/Circumvallate_placenta
| 2021-01-18T18:42:44 |
{"umls": ["C0266770"], "icd-10": ["O43.1"], "wikidata": ["Q5121779"]}
|
Bremer et al. (1976) described a female infant (the offspring of a probably incestuous mating of a mentally retarded mother) who was a typical 'collodion baby.' The skin cleared, but retarded development and floppiness with edema of the dorsum of the hands and feet later became evident. The mother was said to have shown similar features as a baby. The urine showed alpha-ketoadipicacid (COOH-CH(O)-(CH2)3-COOH). The infant's fibroblasts showed a defect in degradation of alpha-ketoadipicacid. The mother also secreted this substance in the urine. This may be an instance of pseudodominance. See aminoadipicaciduria (204750).
INHERITANCE \- Autosomal recessive RESPIRATORY Lung \- Bronchiectasis due to chronic upper respiratory tract infections CHEST External Features \- Barrel chest SKELETAL Hands \- Clubbed fingers SKIN, NAILS, & HAIR Skin \- Neonatal collodion skin MUSCLE, SOFT TISSUES \- Edema of dorsum of hands and feet \- Hypotonia NEUROLOGIC Central Nervous System \- Mental retardation, moderate to severe \- Delayed motor development \- Seizures LABORATORY ABNORMALITIES \- Alpha-ketoadipic aciduria \- Alpha-hydroxyadipic aciduria \- Alpha-aminoadipic aciduria ▲ 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
|
KETOADIPICACIDURIA
|
c1855626
| 25,388 |
omim
|
https://www.omim.org/entry/245130
| 2019-09-22T16:26:04 |
{"mesh": ["C565453"], "omim": ["245130"]}
|
Acquired hemolytic anemia
SpecialtyHematology
Acquired hemolytic anemia can be divided into immune and non-immune mediated forms of hemolytic anemia.
## Contents
* 1 Immune
* 2 Non-immune
* 3 Drug induced hemolysis
* 4 References
* 5 External links
## Immune[edit]
Immune mediated hemolytic anaemia (direct Coombs test is positive)
* Autoimmune hemolytic anemia
* Warm antibody autoimmune hemolytic anemia
* Idiopathic
* Systemic lupus erythematosus (SLE)
* Evans' syndrome (antiplatelet antibodies and hemolytic antibodies)
* Cold antibody autoimmune hemolytic anemia
* Idiopathic cold hemagglutinin syndrome
* Infectious mononucleosis and mycoplasma (atypical) pneumonia
* Paroxysmal cold hemoglobinuria (rare)
* Alloimmune hemolytic anemia
* Hemolytic disease of the newborn (HDN)
* Rh disease (Rh D)
* ABO hemolytic disease of the newborn
* Anti-Kell hemolytic disease of the newborn
* Rhesus c hemolytic disease of the newborn
* Rhesus E hemolytic disease of the newborn
* Other blood group incompatibility (RhC, Rhe, Kidd, Duffy, MN, P and others)
* Alloimmune hemolytic blood transfusion reactions (i.e., from a non-compatible blood type)
* Drug induced immune mediated hemolytic anemia
* Penicillin (high dose)
* Methyldopa
## Non-immune[edit]
Non-immune mediated hemolytic anemia (direct Coombs test is negative)
* Drugs (i.e., some drugs and other ingested substances lead to hemolysis by direct action on RBCs, e.g., ribavirin )
* Toxins (e.g., snake venom; plant poisons such as aesculin)
* Trauma
* Mechanical (from heart valves, extensive vascular surgery, microvascular disease, repeated mechanical vascular trauma)
* Microangiopathic hemolytic anemia (a specific subtype with causes such as TTP, HUS, DIC and HELLP syndrome)
* Infections (Note: Direct Coombs test is sometimes positive in hemolytic anemia due to infection)
* Malaria
* Babesiosis
* Sepsis
* Membrane disorders
* Paroxysmal nocturnal hemoglobinuria (rare acquired clonal disorder of red blood cell surface proteins)
* Liver disease
## Drug induced hemolysis[edit]
Drug induced hemolysis has large clinical relevance. It occurs when drugs actively provoke red blood cell destruction. It can be divided in the following manner:
* Drug-induced autoimmune hemolytic anemia
* Drug-induced nonautoimmune hemolytic anemia
A total of four mechanisms are usually described, but there is some evidence that these mechanisms may overlap.[1]
## References[edit]
1. ^ Wright MS (1999). "Drug-induced hemolytic anemias: increasing complications to therapeutic interventions". Clin Lab Sci. 12 (2): 115–8. PMID 10387489.
## External links[edit]
Classification
D
* ICD-10: D59
* ICD-9-CM: 283
* v
* t
* e
Diseases of red blood cells
↑
Polycythemia
* Polycythemia vera
↓
Anemia
Nutritional
* Micro-: Iron-deficiency anemia
* Plummer–Vinson syndrome
* Macro-: Megaloblastic anemia
* Pernicious anemia
Hemolytic
(mostly normo-)
Hereditary
* enzymopathy: Glucose-6-phosphate dehydrogenase deficiency
* glycolysis
* pyruvate kinase deficiency
* triosephosphate isomerase deficiency
* hexokinase deficiency
* hemoglobinopathy: Thalassemia
* alpha
* beta
* delta
* Sickle cell disease/trait
* Hereditary persistence of fetal hemoglobin
* membrane: Hereditary spherocytosis
* Minkowski–Chauffard syndrome
* Hereditary elliptocytosis
* Southeast Asian ovalocytosis
* Hereditary stomatocytosis
Acquired
AIHA
* Warm antibody autoimmune hemolytic anemia
* Cold agglutinin disease
* Donath–Landsteiner hemolytic anemia
* Paroxysmal cold hemoglobinuria
* Mixed autoimmune hemolytic anemia
* membrane
* paroxysmal nocturnal hemoglobinuria
* Microangiopathic hemolytic anemia
* Thrombotic microangiopathy
* Hemolytic–uremic syndrome
* Drug-induced autoimmune
* Drug-induced nonautoimmune
* Hemolytic disease of the newborn
Aplastic
(mostly normo-)
* Hereditary: Fanconi anemia
* Diamond–Blackfan anemia
* Acquired: Pure red cell aplasia
* Sideroblastic anemia
* Myelophthisic
Blood tests
* Mean corpuscular volume
* normocytic
* microcytic
* macrocytic
* Mean corpuscular hemoglobin concentration
* normochromic
* hypochromic
Other
* Methemoglobinemia
* Sulfhemoglobinemia
* Reticulocytopenia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Acquired hemolytic anemia
|
c0002879
| 25,389 |
wikipedia
|
https://en.wikipedia.org/wiki/Acquired_hemolytic_anemia
| 2021-01-18T18:44:01 |
{"mesh": ["D000743"], "umls": ["C0002879"], "icd-9": ["283"], "icd-10": ["D59"], "orphanet": ["182047"], "wikidata": ["Q4674774"]}
|
Transmissible mink encephalopathy (TME) is a rare sporadic disease that affects the central nervous system of ranch-raised adult mink. It is a transmissible spongiform encephalopathy, caused by proteins called prions.[1]
## Contents
* 1 Clinical signs
* 2 Diagnosis
* 3 History
* 4 See also
* 5 References
## Clinical signs[edit]
This illness has a minimum incubation period of 7 months with a maximum of 12 months. This disease results in mortality of adult animals.[2]
Clinical signs of TME include the characteristic behavioural changes such as confusion, loss of cleanliness, and aimless circling. An affected animal shows signs of weight loss, might develop matted fur, hindquarter ataxia, and its tail arched over its back. Seizures may very rarely occur. Near-death stages include the animal showing signs of drowsiness and unresponsiveness.
## Diagnosis[edit]
Currently, no tests are available to detect signs of this illness in live animals. However, veterinary pathologists can confirm this illness by microscopic examination of the brain tissue in animals suspected to have died of this disease, where they expect to detect areas of distinct sponge-like formations, or by the identification of the prion protein in these tissue samples.
## History[edit]
Transmissible mink encephalopathy was first noticed in 1947 on a mink farm in the United States, in Brown County, Wisconsin, but the disease was not reported in the scientific literature until 1965.[3] The most recent outbreak occurred in 1985, on a farm in the town of Stetsonville, also in Wisconsin.[4] Outbreaks of TME have also occurred in Canada, Finland, Germany, and the former Soviet Union.[5]
## See also[edit]
* Creutzfeldt–Jakob disease
* Kuru
* Scrapie
## References[edit]
* Stanley B. Prusiner, Prion Biology and Diseases, second edition, 2004, United States of America
1. ^ "Phenotypic Similarity of Transmissible Mink Encephalopathy in Cattle and L-type Bovine Spongiform Encephalopathy in a Mouse Model". CDC.
2. ^ "Transmissible Mink Encephalopathy" (pdf). Centre for Food Security and Public Health. October 2008.
3. ^ Liberski, PP; Sikorska, B; Guiroy, D; Bessen, RA (2009). "Transmissible mink encephalopathy - review of the etiology of a rare prion disease". Folia Neuropathologica. 47 (2): 195–204. PMID 19618341.
4. ^ Imran, Muhammad; Mahmood, Saqib (1 November 2011). "An overview of animal prion diseases". Virology Journal. 8: 493. doi:10.1186/1743-422X-8-493. PMC 3228711. PMID 22044871.
5. ^ Mathiason, Candace K. (2017). "Scrapie, CWD, and transmissible mink encephalopathy". Progress in Molecular Biology and Translational Science. 150: 267–292. doi:10.1016/bs.pmbts.2017.07.009. PMID 28838664.
* v
* t
* e
Prion diseases and transmissible spongiform encephalopathy
Prion diseases
in humans
inherited/PRNP:
* fCJD
* Gerstmann–Sträussler–Scheinker syndrome
* Fatal familial insomnia
sporadic:
* sCJD
* Sporadic fatal insomnia
* Variably protease-sensitive prionopathy
acquired/
transmissible:
* iCJD
* vCJD
* Kuru
Prion diseases
in other animals
* Bovine spongiform encephalopathy
* Camel spongiform encephalopathy
* Scrapie
* Chronic wasting disease
* Transmissible mink encephalopathy
* Feline spongiform encephalopathy
* Exotic ungulate encephalopathy
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Transmissible mink encephalopathy
|
c0276640
| 25,390 |
wikipedia
|
https://en.wikipedia.org/wiki/Transmissible_mink_encephalopathy
| 2021-01-18T19:04:11 |
{"wikidata": ["Q3657255"]}
|
## Summary
### Clinical characteristics.
Tyrosine hydroxylase (TH) deficiency is associated with a broad phenotypic spectrum. Based on severity of symptoms/signs as well as responsiveness to levodopa therapy, clinical phenotypes caused by pathogenic variants in TH are divided into (1) TH-deficient dopa-responsive dystonia (the mild form of TH deficiency), (2) TH-deficient infantile parkinsonism with motor delay (the severe form), and (3) TH-deficient progressive infantile encephalopathy (the very severe form).
* In individuals with TH-deficient dopa-responsive dystonia (DYT5b, DYT-TH), onset is between age 12 months and 12 years; initial symptoms are typically lower-limb dystonia and/or difficulty in walking. Diurnal fluctuation of symptoms (worsening of the symptoms toward the evening and their alleviation in the morning after sleep) may be present.
* In most individuals with TH-deficient infantile parkinsonism with motor delay, onset is between age three and 12 months. In contrast to TH-deficient DRD, motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor).
* In individuals with TH-deficient progressive infantile encephalopathy, onset is before age three to six months. Fetal distress is reported in most. Affected individuals have marked delay in motor development, truncal hypotonia, severe hypokinesia, limb hypertonia (rigidity and/or spasticity), hyperreflexia, oculogyric crises, ptosis, intellectual disability, and paroxysmal periods of lethargy (with increased sweating and drooling) alternating with irritability.
### Diagnosis/testing.
The diagnosis of TH deficiency is established in a proband by identification of biallelic pathogenic variants in TH by molecular genetic testing.
### Management.
Treatment of manifestations:
* All individuals with TH-deficient DRD demonstrate complete responsiveness of symptoms to levodopa (with a decarboxylase inhibitor).
* Individuals with TH-deficient infantile parkinsonism with motor delay demonstrate a marked response to levodopa. However, in contrast to TH-deficient DRD, the responsiveness is generally not complete and/or it takes several months or even years before the full effects of treatment become established. Some individuals are hypersensitive to levodopa and prone to side effects (i.e., dopa-induced dyskinesias which develop at initiation of levodopa treatment).
* Individuals with TH-deficient progressive infantile encephalopathy are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias.
Prevention of primary manifestations: Levodopa therapy from early infancy may prevent manifestations of some symptoms and signs in TH-deficient infantile parkinsonism with motor delay; however, no levodopa trials in the early postnatal period of infants with this type of TH deficiency and biallelic TH pathogenic variants have been reported.
Prevention of secondary complications: Side effects associated with levodopa (e.g., gastroesophageal reflux, vomiting, significant suppression of appetite) may be ameliorated with dose adjustment and supportive intervention.
Surveillance: Examination by a movement disorder specialist in pediatric or adult neurology at least several times yearly.
Agents/circumstances to avoid: The prokinetic agent Reglan® and other related antidopaminergic agents.
Evaluation of relatives at risk: Sibs of affected individuals should be examined for mild dystonic and/or parkinsonian symptoms or unexplained gait disorders. It is appropriate to evaluate the older and younger sibs of a proband in order to identify as early as possible those who would benefit from treatment.
### Genetic counseling.
TH deficiency is inherited in an autosomal recessive manner. Heterozygotes (carriers) are generally asymptomatic. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal diagnosis for pregnancies at increased risk are possible if both TH pathogenic variants in a family are known.
## Diagnosis
Tyrosine hydroxylase (TH) deficiency is associated with a wide phenotypic spectrum. Based on severity of symptoms and signs as well as responsiveness to levodopa therapy, the three clinical phenotypes attributable to pathogenic variants in TH are: TH-deficient dopa-responsive dystonia (DYT5b, DYT-TH ; the mild form of TH deficiency); TH-deficient infantile parkinsonism with motor delay (the severe form); and TH-deficient progressive infantile encephalopathy (the very severe form).
Since clinical suspicion is a key to the diagnosis of TH deficiency, physicians should be aware of this broad phenotypic spectrum.
### Suggestive Findings
The diagnosis of TH deficiency should be suspected in an individual with the following clinical and laboratory features.
Clinical
* Lower-limb dystonia
* Generalized dystonia
* Other forms of dystonia
* Postural and/or rest tremor
* Slowness of movements
* Rigidity in affected limbs
* Postural instability
* Diurnal fluctuation (worsening of the symptoms toward the evening and their alleviation in the morning after sleep)
* Hypokinesia
* Truncal hypotonia
* Developmental motor delay
* Hyperreflexia
* Spasticity in affected limbs
* Extensor plantar responses
* The striatal toe
* Myoclonic jerks
* Oculogyric crises
* Bilateral ptosis
* Intellectual disability
* Autonomic disturbances
* Fetal distress
* Feeding difficulties
* Growth retardation (head circumference, height, and/or weight)
* Dystonic crises
* Lethargy-irritability crises
Laboratory (cerebrospinal fluid)
* Reduced homovanillic acid (HVA)
* Normal 5-hydroxyindoleacetic acid (5-HIAA)
* Reduced HVA/5-HIAA ratio
* Reduced 3-methoxy-4-hydroxy-phenylethyleneglycol (MHPG; a metabolite of noradrenaline)
* Normal total biopterin (BP) (most of which exists as tetrahydrobiopterin [BH4])
* Normal total neopterin (NP) (the by-products of the GTP cyclohydrolase 1 [GTPCH1] reaction)
This pattern of CSF neurotransmitter metabolites and pterins supports the clinical diagnosis of TH deficiency [Bräutigam et al 1998, Furukawa et al 1998a, Furukawa & Kish 1999, Wevers et al 1999, Willemsen et al 2010].
If CSF pterin analysis reveals low BP and NP levels, GTPCH1-deficient disorders (including GTPCH1-deficient dopa-responsive dystonia; see Differential Diagnosis) should be considered; reduced levels of BP and NP have been confirmed in autopsied brains with GTPCH1 dysfunction [Furukawa et al 1999, Furukawa et al 2002].
### Establishing the Diagnosis
The diagnosis of TH deficiency is established in a proband by identification of biallelic pathogenic variants in TH (see Table 1).
Molecular genetic testing approaches can include single-gene testing, use of a multigene panel, and more comprehensive genomic testing:
* Single-gene testing. Sequence analysis of TH is performed first and followed by gene-targeted deletion/duplication analysis if only one or no pathogenic variant is found.
* A multigene panel that includes TH and other genes of interest (see Differential Diagnosis) may also be considered. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
* More comprehensive genomic testing (when available) including exome sequencing, mitochondrial sequencing, and genome sequencing may be considered. Such testing may provide or suggest a diagnosis not previously considered (e.g., mutation of a different gene or genes that results in a similar clinical presentation).
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 1.
Molecular Genetic Testing Used in Tyrosine Hydroxylase Deficiency
View in own window
Gene 1MethodNumber of Probands with Pathogenic Variant(s) 2 Detected by Method
THSequence analysis 373 individuals 4, 5
Gene-targeted deletion/duplication analysis 61 individual 7
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
Note that sequence variants in the TH promoter region have been associated with TH deficiency at c.-69, c.-70, and c.-71 [Ribasés et al 2007, Verbeek et al 2007, Ormazabal et al 2011, Stamelou et al 2012, Ortez et al 2015]. Detection of these variants is dependent on the design of the sequencing assay.
5\.
See references in Clinical Description and Molecular Genetics.
6\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
7\.
Ormazabal et al [2011]
## Clinical Characteristics
### Clinical Description
Tyrosine hydroxylase (TH) deficiency is associated with a wide phenotypic spectrum. Based on the severity of symptoms and signs as well as responsiveness to levodopa therapy, the three clinical phenotypes from mildest to most severe are: TH-deficient dopa-responsive dystonia (DRD) (DYT5b, DYT-TH); TH-deficient infantile parkinsonism with motor delay; and TH-deficient progressive infantile encephalopathy (see Table 2). In addition, several atypical severe forms have been recognized.
None of the symptoms and signs of TH deficiency improve without proper treatment with levodopa (see Management).
#### Mild Form: TH-Deficient DRD (DYT5b, DYT-TH)
Clinical features of more than 15 individuals with molecularly confirmed TH-deficient DRD have been reported [Castaigne et al 1971, Rondot & Ziegler 1983, Rondot et al 1992, Knappskog et al 1995, Lüdecke et al 1995, Swaans et al 2000, Furukawa et al 2001, Furukawa et al 2004b, Schiller et al 2004, Verbeek et al 2007, Wu et al 2008, Willemsen et al 2010, Haugarvoll & Bindoff 2011, Yeung et al 2011, Sun et al 2014, Yan et al 2017].
The perinatal and postnatal periods are normal. Early psychomotor development is normal. Onset of symptoms is generally between ages 12 months and 12 years. Initial symptoms are usually lower-limb dystonia and/or difficulty in walking. In general, gradual progression to generalized dystonia occurs. Bradykinesia and tremor (mainly postural) can be observed. A variable degree of rigidity is detected in affected limbs. There is a tendency to fall. Without treatment individuals with TH-deficient DRD become wheelchair bound.
In addition to dystonic and parkinsonian elements, many affected individuals have some clinical features suggestive of pyramidal signs (hyperreflexia, spasticity, and/or extensor plantar responses). Plantar responses become flexor after beginning levodopa therapy, suggesting that the previous findings may be consistent with a dystonic phenomenon (the striatal toe) rather than a Babinski response.
Intellect is not impaired in individuals with TH-deficient DRD. Of note, Schiller et al [2004] reported one individual with TH-deficient DRD and mild cognitive impairment attributed to Rh incompatibility.
In rare instances, sustained upward ocular deviations (oculogyric crises) are observed.
Diurnal fluctuation of symptoms (worsening of the symptoms toward the evening and their alleviation in the morning after sleep) has been reported in approximately one third of individuals with TH-deficient DRD (a much lower incidence than observed in GTP cyclohydrolase 1-deficient dopa-responsive dystonia).
DRD is characterized by a dramatic and sustained response to relatively low doses of levodopa [Nygaard 1993, Furukawa 2004]. All individuals with TH-deficient DRD demonstrate complete responsiveness of symptoms to levodopa therapy. (Note: The term "levodopa therapy," without further specification, is herein used to indicate oral administration of levodopa with a decarboxylase inhibitor.) Such an excellent response in the absence of any motor adverse effects of chronic levodopa therapy (e.g., wearing-off and on-off phenomena and dopa-induced dyskinesias) for more than 30 years has been confirmed in at least five individuals with TH-deficient DRD [Swaans et al 2000, Schiller et al 2004].
#### Severe Form: TH-Deficient Infantile Parkinsonism with Motor Delay
Approximately 50 individuals with molecularly confirmed TH-deficient infantile parkinsonism with motor delay have been reported [Lüdecke et al 1996, Bräutigam et al 1998, Surtees & Clayton 1998, van den Heuvel et al 1998, Wevers et al 1999, de Rijk-Van Andel et al 2000, Grattan-Smith et al 2002, Yeung et al 2006, Ribasés et al 2007, Verbeek et al 2007, Clot et al 2009, Doummar et al 2009, Pons et al 2010, Willemsen et al 2010, Haugarvoll & Bindoff 2011, Najmabadi et al 2011, Ormazabal, et al 2011, Yeung et al 2011, Chi et al 2012, Giovanniello et al 2012, Pons et al 2013, Ortez et al 2015, Zhang et al 2017].
In general, the pregnancies of affected individuals are uncomplicated. Perinatal and early postnatal periods are usually normal. Onset in most children is between ages three and 12 months. In contrast to TH-deficient DRD, in this severe form, motor milestones are overtly delayed in infancy.
All affected individuals demonstrate truncal hypotonia as well as parkinsonian symptoms and signs (e.g., hypokinesia, rigidity of extremities, tremor). Although dystonia is recognized in most, it tends to be less prominent. Brisk deep tendon reflexes, spasticity, and/or extensor plantar responses are frequently detected. Deep tendon reflexes have been reported to be normal or reduced in some.
Oculogyric crises are often observed. Ptosis and other features of mild autonomic dysfunction can be observed. Intellectual disability is found in many of the affected individuals.
Typical diurnal fluctuation of symptoms is not observed in most individuals with TH-deficient infantile parkinsonism with motor delay. Of note, diurnal variation of axial hypotonia but not of limb dystonia has been described in one affected individual [Clot et al 2009, Doummar et al 2009].
Individuals with TH-deficient infantile parkinsonism with motor delay demonstrate a marked response to levodopa. However, in contrast to TH-deficient DRD, the responsiveness is generally not complete and/or it takes several months or even years for the full effects of treatment to become established. For example, four individuals reported by de Rijk-Van Andel et al [2000] still had clumsy gait and intellectual impairment four to five years after beginning levodopa therapy. One child, who had received levodopa from age six months, showed motor and speech delay at age three years [Lüdecke et al 1996]; when examined at age four years, this child was reported to have no developmental delay and no neurologic abnormalities [Surtees & Clayton 1998].
Some affected individuals are hypersensitive to levodopa (combined with a decarboxylase inhibitor) and are prone to intolerable side effects (e.g., severe dopa-induced dyskinesias which develop at initiation of levodopa treatment); because of this hypersensitivity, such individuals require very low initial doses of levodopa [Clot et al 2009, Doummar et al 2009, Yeung et al 2011].
#### Very Severe Form: TH-Deficient Progressive Infantile Encephalopathy
More than 15 individuals with molecularly confirmed TH-deficient progressive infantile encephalopathy have been reported [Bräutigam et al 1999, de Lonlay et al 2000, Dionisi-Vici et al 2000, Janssen et al 2000, Häussler et al 2001, Hoffmann et al 2003, Møller et al 2005, Zafeiriou et al 2009, Willemsen et al 2010, Yeung et al 2011, Chi et al 2012, Szentiványi et al 2012, Pons et al 2013, Tristán-Noguero et al 2016, Leuzzi et al 2017].
The onset of TH-deficient progressive infantile encephalopathy is before age three to six months. Fetal distress is reported in most; infants may demonstrate feeding difficulties, hypotonia, and/or growth retardation affecting head circumference, height, and/or weight from birth. Determining the age of onset is sometimes difficult because of complicated perinatal events.
Affected individuals have marked delay in motor development, truncal hypotonia, severe hypokinesia, limb hypertonia (rigidity and/or spasticity), hyperreflexia with extensor plantar responses, oculogyric crises, bilateral ptosis, intellectual disability, and paroxysmal periods of lethargy (with increased sweating and drooling) alternated with irritability – referred to as "lethargy-irritability crises" [Willemsen et al 2010].
In general, dystonia is not a prominent clinical feature of TH-deficient progressive infantile encephalopathy; however, in the most severely affected infants, dystonic crises (every 4-5 days) have been reported [Zafeiriou et al 2009, Willemsen et al 2010]. Other abnormal involuntary movements (tremor and/or myoclonic jerks) can be observed in some.
Although autonomic disturbances occur, especially in the periods of lethargy-irritability crises, the clinical characteristics of impaired production of peripheral catecholamines (e.g., abnormalities in the maintenance of blood pressure) are not present [Hoffmann et al 2003, Willemsen et al 2010].
Usually, typical diurnal fluctuation of symptoms is not recognized in TH-deficient progressive infantile encephalopathy.
Individuals with TH-deficient progressive infantile encephalopathy are extremely sensitive to levodopa therapy; thus, treatment with levodopa is often limited by intolerable dyskinesias. Some develop severe dyskinesias even at doses of 0.2 to 1.5 mg/kg/day levodopa (combined with a decarboxylase inhibitor); no or only minimal improvement can be detected in these individuals [de Lonlay et al 2000, Hoffmann et al 2003, Zafeiriou et al 2009]. Two such individuals died at ages 2.5 years and nine years [Hoffmann et al 2003, Willemsen et al 2010].
### Table 2.
Characteristics of the Three Phenotypes of TH Deficiency
View in own window
Clinical PhenotypeSeverityAge at OnsetEffect of Levodopa
TH-deficient dopa-responsive dystoniaMild12 mos-12 yrsDramatic & sustained
TH-deficient infantile parkinsonism with motor delaySevere3-12 mosIncomplete 1
TH-deficient progressive infantile encephalopathyVery severe<3-6 mosLittle to none 2
1\.
Effect is generally incomplete, or levodopa treatment takes months/years to achieve full effect.
2\.
Levodopa treatment is often limited by intolerable dopa-induced dyskinesias which develop at initiation of the therapy.
#### Atypical Severe Forms
TH-deficient myoclonus-dystonia. Stamelou et al [2012] reported three sibs with severe TH deficiency who presented with truncal hypotonia, developmental motor delay, generalized dystonia, and prominent myoclonic jerks in infancy. The proband in this family had a normal birth but was floppy with poor head control at age six months. After beginning levodopa treatment at age 13 years, all of her symptoms (including cognitive dysfunction) markedly improved. She could walk some steps with help but had generalized dystonia, choreoathetoid movements, slowing in finger-tapping, and myoclonic jerks even five years after starting levodopa therapy.
TH deficiency with a biphasic clinical course. Giovanniello et al [2007] reported one individual with moderate-severe TH deficiency showing a biphasic course. Psychomotor development was normal in early infancy. In the second year of life he demonstrated toe-walking, frequent falls, and developmental language delay. At age 11 years, he developed involuntary movements over the course of a few months. When examined at age 13 years, he had generalized choreoathetosis, myoclonic jerks, expressionless face, dysarthria, gaze paresis, oculogyric crises, and borderline intellectual function. He showed hypersensitivity to levodopa and could be treated only with very low doses.
TH deficiency with exacerbation by viral infections. Diepold et al [2005] reported one individual with developmental psychomotor delay, truncal hypotonia, parkinsonism, and dystonic posturing of the hands. These symptoms were induced and/or exacerbated by viral infections (e.g., exanthema subitum, an active infection of Epstein-Barr virus). Although he demonstrated a remarkable response to levodopa, this individual still had truncal hypotonia and developmental delay six months after starting levodopa treatment.
#### Neuroimaging
In all individuals with TH-deficient DRD and in most individuals with TH-deficient infantile parkinsonism with motor delay, brain MRI is normal. Brain MRI demonstrated no abnormalities in the basal ganglia of two individuals with TH-deficient DRD even 38 and 43 years after onset of the disorder [Schiller et al 2004].
In individuals with TH-deficient progressive infantile encephalopathy, brain MRI often reveals mild-moderate cerebral and/or cerebellar atrophy. In one individual with this very severe form, no abnormalities were observed on two brain MRIs in the first year of life; however, the third brain MRI at age 2.5 years showed periventricular white matter changes and symmetric high signal abnormalities in the superior cerebellar peduncles and dorsal pons [Zafeiriou et al 2009].
#### Neurochemistry
In a 16-week-old miscarried human fetus found to be heterozygous for TH variants p.Arg328Trp and p.Thr399Met, protein levels of dopaminergic markers (including TH) in the mesencephalon and pons were reported to be lower than those in an age-matched control fetus [Tristán-Noguero et al 2016]. The same TH pathogenic variants were identified in her sister, who developed TH-deficient progressive infantile encephalopathy [Møller et al 2005].
### Genotype-Phenotype Correlations
Individuals who are homozygous or compound heterozygous for a single-nucleotide variant in the promoter region of TH have not developed the very severe form of TH deficiency [Ribasés et al 2007, Verbeek et al 2007, Ormazabal et al 2011, Stamelou et al 2012, Ortez et al 2015].
No additional genotype-phenotype correlations have been identified in individuals with TH deficiency.
### Penetrance
Penetrance appears to be complete in individuals with biallelic TH pathogenic variants.
In contrast to autosomal dominant GTPCH1-deficient DRD [Furukawa et al 1998b, Segawa et al 2003], there is no predominance of clinically affected females in autosomal recessive TH-deficient DRD.
### Prevalence
The prevalence of TH deficiency has not been clearly documented. DRD has been reported to account for an estimated 5%-10% of primary dystonia in childhood or adolescence [Nygaard et al 1988].
### Nomenclature
DYT5b and DYT-TH are other designations for TH-deficient dopa-responsive dystonia (see Dystonia Overview).
## Differential Diagnosis
The major differential diagnoses for tyrosine hydroxylase (TH) deficiency include several types of dystonia, early-onset parkinsonism, cerebral palsy or spastic paraplegia, and primary and secondary deficiencies of CSF neurotransmitter metabolites.
Dystonia. For a differential diagnosis of dystonia, see Dystonia Overview.
GTP cyclohydrolase 1-deficient dopa-responsive dystonia (GTPCH1-deficient DRD, DYT5a, DYT-GCH1) is characterized by childhood-onset dystonia and a dramatic and sustained response to low doses of oral administration of levodopa. The average age of onset is approximately six years. This disorder typically presents with gait disturbance caused by foot dystonia, later development of parkinsonism, and diurnal fluctuation of symptoms. In general, gradual progression to generalized dystonia is observed. More than 80% of individuals with DRD have pathogenic variants in GCH1 (which encodes GTPCH1) [Furukawa et al 2013]. Brain and CSF concentrations of total biopterin (BP) and total neopterin (NP) are low in GTPCH1-deficient DRD (see Suggestive Findings, Laboratory). When the phenotypes associated with GTPCH-deficient DRD and TH-deficient DRD overlap significantly, the two disorders can be distinguished by molecular genetic testing and the pattern of CSF pterins and neurotransmitter metabolites. GTPCH1-deficient DRD is inherited in an autosomal dominant manner with incomplete penetrance.
DYT1 early-onset isolated dystonia (DYT1, DYT-TOR1A) is characterized by childhood or adolescent onset of dystonic muscle contractions causing posturing of a foot, leg, or arm. The dystonia is first apparent with specific actions such as writing or walking. Over time, the contractions frequently become evident with less specific actions and spread to other body regions. No other neurologic abnormalities are present, except for postural arm tremor. Disease severity varies considerably even within the same family. A heterozygous GAG deletion in TOR1A is identified in most affected individuals. DYT1 is inherited in an autosomal dominant manner with reduced penetrance.
Early-onset parkinsonism. Individuals with early-onset parkinsonism responding to levodopa, especially those with onset before age 20 years, often develop gait disturbance attributable to foot dystonia as the initial symptom. Thus, early in the disease course, clinical differentiation between individuals with early-onset parkinsonism with dystonia and individuals with DRD is difficult. The most reliable clinical distinction between early-onset parkinsonism and DRD is the subsequent occurrence of motor-adverse effects of chronic levodopa therapy (e.g., wearing-off and on-off phenomena and dopa-induced dyskinesias) in early-onset parkinsonism. Under optimal doses, individuals with DRD on long-term levodopa treatment do not develop these complications. However, this is a retrospective difference. An investigation of the nigrostriatal dopaminergic terminals by positron emission tomography (PET) or single photon emission computed tomography (SPECT) can differentiate early-onset parkinsonism (markedly reduced) from DRD (normal or near normal) [Furukawa & Kish 2015]. Cerebrospinal fluid concentration of BP is reduced and NP is normal in early-onset parkinsonism [Furukawa et al 1996], including the autosomal recessive form caused by PRKN pathogenic variants (see Parkin Type of Early-Onset Parkinson Disease and Parkinson Disease Overview).
Cerebral palsy or spastic paraplegia. Some individuals with DRD are initially diagnosed as having cerebral palsy or spastic paraplegia [Tassin et al 2000, Furukawa et al 2001, Grimes et al 2002]. Dystonic extension of the big toe (the striatal toe), which occurs spontaneously or is induced by plantar stimulation, may be misinterpreted as an extensor plantar response (see Hereditary Spastic Paraplegia Overview).
Primary deficiencies of CSF neurotransmitter metabolites include autosomal recessive BH4-related enzyme deficiencies (so-called BH4 deficiencies, including recessively inherited GTPCH1 deficiency). Individuals with recessively inherited BH4 deficiencies develop BH4-dependent hyperphenylalaninemia in the first six months of life; an exception is sepiapterin reductase deficiency (SRD) (in which BH4 is synthesized through the salvage pathway in peripheral tissue). Individuals with autosomal recessive BH4 deficiencies typically present with severe neurologic dysfunction (e.g., psychomotor retardation, convulsions, microcephaly, swallowing difficulties, hypersomnia, cognitive impairment, truncal hypotonia, limb hypertonia, paroxysmal stiffening, involuntary movements, oculogyric crises); diurnal fluctuation of symptoms and dystonia partially responding to levodopa can be seen in some, especially those with SRD [Hanihara et al 1997, Furukawa & Kish 1999, Bonafé et al 2001, Furukawa 2004, Neville et al 2005, Abeling et al 2006, Roze et al 2006, Arrabal et al 2011, Dill et al 2012, Friedman et al 2012, Marras et al 2012]. In contrast to individuals with TH deficiency and GTPCH1-deficient DRD, oral administration of both levodopa and 5-hydroxytryptophan is necessary for individuals with SRD because of dopamine and serotonin deficits [Friedman 2016, Furukawa et al 2016]. Arrabal et al [2011] reported one family with a strikingly mild phenotype (without motor and cognitive delay) of SRD associated with compound heterozygous pathogenic variants in SPR (which encodes SR). Even in this family, an affected family member showed markedly decreased levels of HVA and 5-HIAA in CSF. BH4 treatment and neurotransmitter replacement therapy (levodopa and 5-hydroxytriptophan) are indispensable for those with other autosomal recessive BH4-related enzyme deficiencies.
Sepiapterin reductase deficiency (SRD). The phenotypic spectrum of SRD, which ranges from significant motor and cognitive deficits to only minimal findings, has not been completely elucidated. Clinical features in the majority of affected individuals include motor and speech delay, axial hypotonia, dystonia, weakness, and oculogyric crises; individuals with SRD can show some diurnal fluctuation and sleep benefit. Other common features include parkinsonian symptoms and signs (tremor, bradykinesia, masked face, limb rigidity), hyperreflexia, intellectual disability, psychiatric and/or behavioral abnormalities, autonomic dysfunction, and sleep disturbances (hypersomnolence, difficulty initiating or maintaining sleep, and drowsiness). SRD is inherited in an autosomal recessive manner.
Secondary deficiencies of CSF neurotransmitter metabolites have been observed in other neurodegenerative disorders including spinocerebellar ataxia type 2, neuronal ceroid-lipofuscinosis, Menkes kinky hair disease (see ATP7A-Related Copper Transport Disorders), and in association with hypoxic ischemic encephalopathy.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with tyrosine hydroxylase (TH) deficiency, the following are recommended if they have not already been completed:
* Clinical examination to assess the severity of motor disturbances
* Evaluation for associated psychiatric symptoms or cognitive impairments
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
In individuals with TH deficiency, initial use of a levodopa (combined with a decarboxylase inhibitor) dose of 0.5-3 mg/kg (body weight)/day, divided into three to six doses, has been recommended [Willemsen et al 2010, Yeung et al 2011, Pons et al 2013]. Nevertheless, it is possible that even at the lowest initial dosage recommended (i.e., 0.5 mg/kg/day), some individuals with the very severe form of TH deficiency (see Table 2) will develop intolerable dyskinesias [Zafeiriou et al 2009, Pons et al 2013].
When tolerated, the dose of levodopa can be increased gradually. However, with the exception of those with mild TH-deficient DRD (see Table 2), it is often difficult to increase levodopa doses smoothly in affected individuals due to the risk of developing severe dyskinesias. In such individuals, combined administration of levodopa and selegiline (a monoamine oxidase B inhibitor, which inhibits dopamine degradation) has been recommended [Dionisi-Vici et al 2000, Häussler et al 2001, Willemsen et al 2010, Yeung et al 2011, Leuzzi et al 2017].
As reported in compound heterozygotes for GCH1 pathogenic variants [Furukawa et al 2004a], amantadine (an N-methyl-D-aspartate receptor antagonist) can suppress dopa-induced dyskinesias, which develop at initiation of levodopa therapy, in some individuals with TH deficiency [Pons et al 2013].
Mild form (TH-deficient DRD). Individuals demonstrate complete responsiveness of symptoms to levodopa treatment. Such an excellent response without any motor adverse effects of chronic levodopa therapy for more than 30 years has been confirmed in some individuals with TH-deficient DRD [Swaans et al 2000, Schiller et al 2004].
Severe form (TH-deficient infantile parkinsonism with motor delay). Individuals show a marked response to levodopa. However, in contrast to TH-deficient DRD, the responsiveness is generally not complete and/or it takes several months or even years before full effects of treatment become established. Some individuals with the severe form of TH deficiency are hypersensitive to levodopa and are prone to intolerable dyskinesias at initiation of levodopa therapy; this hypersensitivity necessitates use of very low initial doses of levodopa [Grattan-Smith et al 2002, Yeung et al 2006, Clot et al 2009, Doummar et al 2009, Yeung et al 2011].
Very severe form (TH-deficient progressive infantile encephalopathy). Individuals are extremely sensitive to levodopa. Accordingly, treatment with levodopa is often limited by severe dyskinesias. Some individuals with the very severe form of TH deficiency develop intolerable dyskinesias even at doses of 0.2 to 1.5 mg/kg/day levodopa and no or only minimal improvement is observed [de Lonlay et al 2000, Hoffmann et al 2003, Zafeiriou et al 2009].
### Prevention of Primary Manifestations
As described in Treatment of Manifestations, appropriate levodopa therapy can reverse symptoms and signs of TH-deficient DRD; thus, levodopa treatment from early infancy may not be required to prevent disease manifestations in this mild form of TH deficiency.
Levodopa therapy from early infancy may prevent manifestations of some symptoms and signs in TH-deficient infantile parkinsonism with motor delay; however, no levodopa trials in the early postnatal period of infants with this type of TH deficiency and biallelic TH pathogenic variants have been reported.
### Prevention of Secondary Complications
Additional side effects associated with peak-dose levodopa include gastroesophageal reflux, vomiting, or significant suppression of appetite leading to poor growth. Although these problems may be most evident in the first few weeks of onset of levodopa treatment, close monitoring of symptoms and ongoing adjustment of levodopa dosing in conjunction with appropriate supportive intervention as needed help in management.
### Surveillance
Examination by a movement disorder specialist in pediatric or adult neurology at least several times yearly is recommended.
### Agents/Circumstances to Avoid
The prokinetic agent Reglan®, commonly used for treatment of bowel dysmotility, is contraindicated in individuals with TH deficiency because of its antidopaminergic activity. Use of Reglan® or related antidopaminergic agents, including some antipsychotic medications, could result in a dystonic crisis.
### Evaluation of Relatives at Risk
It is appropriate to evaluate the older and younger sibs of a proband in order to identify as early as possible those who would benefit from prompt initiation of treatment.
Evaluations include:
* Clinical examination to identify mild dystonic and/or parkinsonian symptoms or unexplained gait disorders;
* Molecular genetic testing if the TH pathogenic variants have been identified in the family.
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
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*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
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*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
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*[NPD]: Narcissistic Personality Disorder
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*[OCPD]: Obsessive-Compulsive Personality Disorder
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*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
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*[NSW DCR]: New South Wales District Court Reports
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Tyrosine Hydroxylase Deficiency
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c2673535
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gene_reviews
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https://www.ncbi.nlm.nih.gov/books/NBK1437/
| 2021-01-18T20:51:58 |
{"mesh": ["C537537"], "synonyms": []}
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Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, commonly known as PLOSL, is a progressive disorder that affects the bones and brain. "Polycystic lipomembranous osteodysplasia" refers to cyst-like bone changes that can be seen on x-rays. "Sclerosing leukoencephalopathy" describes specific changes in the brain that are found in people with this disorder.
The bone abnormalities associated with PLOSL usually become apparent in a person's twenties. In most affected individuals, pain and tenderness in the ankles and feet are the first symptoms of the disease. Several years later, broken bones (fractures) begin to occur frequently, particularly in bones of the ankles, feet, wrists, and hands. Bone pain and fractures are caused by thinning of the bones (osteoporosis) and cyst-like changes. These abnormalities weaken bones and make them more likely to break.
The brain abnormalities characteristic of PLOSL typically appear in a person's thirties. Personality changes are among the first noticeable problems, followed by a loss of judgment, feelings of intense happiness (euphoria), a loss of inhibition, and poor concentration. These neurologic changes cause significant problems in an affected person's social and family life. As the disease progresses, it causes a severe decline in thinking and reasoning abilities (dementia). Affected people ultimately become unable to walk, speak, or care for themselves. People with this disease usually live only into their thirties or forties.
## Frequency
PLOSL is a very rare condition. It was first reported in the Finnish population, where it has an estimated prevalence of 1 to 2 per million people. This condition has also been diagnosed in more than 100 people in the Japanese population. Although affected individuals have been reported worldwide, PLOSL appears to be less common in other countries.
## Causes
Mutations in the TREM2 gene or the TYROBP gene (also called DAP12) can cause PLOSL. The proteins produced from these two genes work together to activate certain kinds of cells. These proteins appear to be particularly important in osteoclasts, which are specialized cells that break down and remove (resorb) bone tissue that is no longer needed. These cells are involved in bone remodeling, which is a normal process that replaces old bone tissue with new bone. The TREM2 and TYROBP proteins are also critical for the normal function of microglia, which are a type of immune cell in the brain and spinal cord (central nervous system). Although these proteins play essential roles in osteoclasts and microglia, their exact function in these cells is unclear.
Mutations in the TREM2 or TYROBP gene disrupt normal bone growth and lead to progressive brain abnormalities in people with PLOSL. Researchers believe that the bone changes seen with this disorder are related to malfunctioning osteoclasts, which are less able to resorb bone tissue during bone remodeling. In the central nervous system, TREM2 or TYROBP mutations cause widespread abnormalities of microglia. Researchers are working to determine how these abnormalities lead to the progressive neurological problems associated with PLOSL.
### Learn more about the genes associated with Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
* TREM2
* TYROBP
## 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
|
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
|
c1857316
| 25,392 |
medlineplus
|
https://medlineplus.gov/genetics/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy/
| 2021-01-27T08:25:08 |
{"gard": ["9921"], "mesh": ["C536329"], "omim": ["221770"], "synonyms": []}
|
A number sign (#) is used with this entry because of evidence that ataxia-oculomotor apraxia-4 (AOA4) is caused by homozygous or compound heterozygous mutation in the PNKP gene (605610) on chromosome 19q13.
Description
Ataxia-oculomotor apraxia-4 is an autosomal recessive neurologic disorder characterized by onset of dystonia and ataxia in the first decade. Additional features include oculomotor apraxia and peripheral neuropathy. Some patients may show cognitive impairment. The disorder is progressive, and most patients become wheelchair-bound in the second or third decade (summary by Bras et al., 2015).
For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (208920).
Clinical Features
Bras et al. (2015) reported 11 patients from 8 unrelated families of Portuguese descent with ataxia-oculomotor apraxia. The age at onset ranged from 1 to 9 years, and most patients presented with prominent dystonia that attenuated with time. Additional features included ataxia, oculomotor apraxia, and peripheral neuropathy with decreased vibration sense and areflexia. The disorder was rapidly progressive, and most patients became wheelchair-bound in the second or third decade due to severe muscle weakness and atrophy. Seven patients showed cognitive impairment, including 2 with dementia. Brain imaging showed cerebellar atrophy in all patients. Laboratory studies showed increased alpha-fetoprotein (104150) and cholesterol in only some patients.
Inheritance
The transmission pattern of AOA4 in the families reported by Bras et al. (2015) was consistent with autosomal recessive inheritance.
Population Genetics
Bras et al. (2015) concluded that AOA4 is the most common form of AOA among the Portuguese.
Molecular Genetics
In 11 patients from 8 unrelated Portuguese families with autosomal recessive ataxia-oculomotor apraxia-4, Bras et al. (2015) identified homozygous or compound heterozygous mutations in the PNKP gene (see, e.g., 605610.0002 and 605610.0005-605610.0008). The mutations, which were found by a combination of homozygosity mapping and exome sequencing, segregated with the disorder in all families with available samples. Functional studies of the variants were not performed.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Oculomotor apraxia MUSCLE, SOFT TISSUES \- Distal muscle weakness and atrophy NEUROLOGIC Central Nervous System \- Ataxia \- Dystonia \- Tetraplegia \- Cognitive impairment (in some patients) \- Cerebellar atrophy Peripheral Nervous System \- Peripheral neuropathy \- Impaired vibration sense \- Areflexia LABORATORY ABNORMALITIES \- Increased alpha-fetoprotein (in some patients) \- Increased cholesterol (in some patients) MISCELLANEOUS \- Onset in first decade (range 1 to 9 years) \- Rapidly progressive \- Most patients become wheelchair-bound in the second or third decades \- High prevalence among individuals of Portuguese descent MOLECULAR BASIS \- Caused by mutation in the polynucleotide kinase 3-prime phosphatase gene (PNKP, 605610.0002 ) ▲ 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
|
ATAXIA-OCULOMOTOR APRAXIA 4
|
c4225397
| 25,393 |
omim
|
https://www.omim.org/entry/616267
| 2019-09-22T15:49:27 |
{"omim": ["616267"], "orphanet": ["459033"], "synonyms": ["AOA4"]}
|
Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.
## Epidemiology
Prevalence is estimated at about 1/4,700. Thyroid dysgenesis causes 85% of permanent congenital hypothyroidism (see this term) in iodine-sufficient countries. Thyroid dysgenesis occurs in three major forms: thyroid ectopy, athyreosis and thyroid hypoplasia (see these terms). Thyroid ectopy causes two-thirds of thyroid dysgenesis while athyreosis and thyroid hypoplasia account for the other third. Thyroid ectopy is twice as common in females as in males.
## Clinical description
Clinical manifestations of thyroid dysgenesis are often subtle or not present at birth, probably as a result of trans-placental passage of some maternal thyroid hormone or due to some residual infant thyroid hormone production. Goiter is always absent. More specific symptoms and signs do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment thyroid dysgenesis results in severe intellectual deficit and short stature. Thyroid ectopy refers to an ectopic location of the thyroid gland, while thyroid athyreosis refers to the complete absence of thyroid tissue and thyroid hypoplasia refers to underdevelopment of the thyroid. Thyroid dysgenesis may also occur as thyroid hemiagenesis (see this term), where half of the gland is missing. In the majority of cases thyroid hemiagenesis is asymptomatic.
## Etiology
Around 2% of cases have been shown to be familial and may be caused by mutations in the FOXE1, NKX2-1, NKX2-5 or PAX8 genes (9q22, 14q13, 5q34 and 2q12-q14). Mutations that result in complete inactivation of the TSHR gene (14q31) can present with athyreosis or thyroid hypoplasia.
## Diagnostic methods
In countries with newborn screening programs (with either a primary thyroxine (T4)-follow-up TSH or primary TSH test), infants are diagnosed after detection by screening tests. Diagnosis should be confirmed by elevated serum TSH level and low T4 or free T4 level. The type of thyroid dysgenesis can be determined using thyroid radionuclide uptake and scan and thyroid ultrasonography. Genetic testing can also be used.
## Differential diagnosis
Differential diagnoses include other forms of congenital hypothyroidism (see this term), which can be excluded by evidence on imaging studies of the absence or underdevelopment of the thyroid gland.
## Antenatal diagnosis
Genetic counseling and antenatal diagnosis can be offered in families where a genetic defect has been identified.
## Genetic counseling
Thyroid dysgenesis is generally thought to be sporadic. However, recent evidence points to the possibility of a genetic component.
## Management and treatment
It is not necessary to know the underlying etiology when initiating hormone treatment. Levothyroxine is the treatment of choice; the recommended starting dose is 10-15mcg/kg/day. The immediate goals of treatment are to raise the serum T4 above 130 nmol/L (10 ug/dL) as rapidly as possible; with these starting doses, serum TSH usually normalizes in 2-4 weeks. Frequent laboratory monitoring in infancy is essential to ensure optimal neurocognitive outcome. Serum TSH and T4 or free T4 should be measured every 1-2 months in the first 6 months of life, every 3 months between 6 months and 3 years of age, and 4 weeks after any dose change.
## Prognosis
The prognosis of infants started on treatment early is excellent, with IQs similar to sibling or classmate controls. Lower neurocognitive outcomes may occur in those infants started after more than 30 days of age, on lower l-thyroxine doses than currently recommended, and in those infants with more severe hypothyroidism.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Congenital hypothyroidism due to developmental anomaly
|
None
| 25,394 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=95711
| 2021-01-23T17:04:40 |
{"icd-10": ["E03.1"], "synonyms": ["Primary congenital hypothyroidism due to developmental anomaly"]}
|
A rare, primary combined T and B cell immunodeficiency characterized by early-onset of recurrent, invasive viral and bacterial infections associated with T and B cell lymphopenia, functional defects in T and B cells, poor antibody response and thrombocytopenia. Depending on the type of infectious agent, variable clinical manifestations commonly include recurrent pneumonia, bronchiolitis, otitis media, meningoencephalitis, colitis, and diarrhea, leading to fatal multiorgan failure in severe 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
|
DOCK2 deficiency
|
c4225328
| 25,395 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=447737
| 2021-01-23T17:58:33 |
{"gard": ["12653"], "omim": ["616433"], "icd-10": ["D81.8"]}
|
Leber hereditary optic neuropathy (LHON) is a condition characterized by vision loss. Vision loss is typically the only symptom of LHON. Some families with additional signs and symptoms have been reported and are said to have "LHON plus", a condition which includes vision loss, tremors, and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). Some affected individuals develop features similar to multiple sclerosis. LHON is caused by mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes. LHON has a mitochondrial pattern of inheritance; however, there are many cases in which there are no other cases of LHON in the family. Treatment is supportive and may include visual aids. There is ongoing research for more effective treatment.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Leber hereditary optic neuropathy
|
c0917796
| 25,396 |
gard
|
https://rarediseases.info.nih.gov/diseases/6870/leber-hereditary-optic-neuropathy
| 2021-01-18T17:59:29 |
{"mesh": ["D029242"], "omim": ["535000"], "umls": ["C0917796"], "orphanet": ["104"], "synonyms": ["Leber’s disease", "Optic atrophy, Leber type", "Leber optic atrophy", "LHON"]}
|
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a rare disorder that affects the brain. It is part of a group of disorders known as leukodystrophies. Leukodystrophies are diseases that affect the white matter of the brain. The white matter contains nerve fibers (axons), surrounded by a type of sheath or covering called myelin (a fatty, white colored substance) that allows the transmission of impulses or communication among brain cells (neurons).
LTBL is characterized by changes in specific parts of the brain including the cerebellum, thalamus and brainstem. These changes can be seen by brain imaging exams (MRI). High levels of lactate in the blood and in the cerebral spinal fluid are also seen.
There are basically two forms of the disease based on severity of symptoms and age of onset:
* A mild disease, with onset around 6 months of age, characterized by the loss of acquired skills (psychomotor regression), muscle stiffness (spasticity), irritability and seizures. These symptoms often improve during the toddler years.
* A severe disease with symptoms that start in newborns and include brain and liver problems. Symptoms generally do not improve with age.
LTBL is caused by changes (mutations) in the EARS2 gene. Mutations in this gene decrease the amount of a specific mitochondrial enzyme needed for proper mitochondrial function (mitochondria are cell structures that convert the energy from food into a form that cells can use), and therefore, LTBL is also considered a type of mitochondrial disorder. It is inherited in an autosomal recessive pattern. There is still no cure for this disease. Treatment is typically supportive based on presenting symptoms.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Leukoencephalopathy with thalamus and brainstem involvement and high lactate
|
c3554079
| 25,397 |
gard
|
https://rarediseases.info.nih.gov/diseases/13381/leukoencephalopathy-with-thalamus-and-brainstem-involvement-and-high-lactate
| 2021-01-18T17:59:26 |
{"omim": ["614924"], "orphanet": ["314051"], "synonyms": ["Combined oxidative phosphorylation deficiency 12", "Combined oxidative phosphorylation defect type 12", "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome", "LTBL", "COXPD12"]}
|
Acquired C1 esterase inhibitor deficiency
Other namesAcquired angioedema
SpecialtyHematology
Acquired C1 esterase inhibitor deficiency presents with symptoms indistinguishable from hereditary angioedema, but generally with onset after the fourth decade of life.[1]:153
C4 levels are low and C3 levels are normal.[2]
## See also[edit]
* Hereditary Angioedema
* Wheal response
* Urticaria
* Skin lesion
* 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. ^ Markovic SN, Inwards DJ, Frigas EA, Phyliky RP (January 2000). "Acquired C1 esterase inhibitor deficiency". Ann. Intern. Med. 132 (2): 144–50. doi:10.7326/0003-4819-132-2-200001180-00009. PMID 10644276.
## External links[edit]
Classification
D
* ICD-10: D84.1 (ILDS D84.112)
* MeSH: C538173
External resources
* eMedicine: article/104888
* v
* t
* e
Lymphoid and complement disorders causing immunodeficiency
Primary
Antibody/humoral
(B)
Hypogammaglobulinemia
* X-linked agammaglobulinemia
* Transient hypogammaglobulinemia of infancy
Dysgammaglobulinemia
* IgA deficiency
* IgG deficiency
* IgM deficiency
* Hyper IgM syndrome (1
* 2
* 3
* 4
* 5)
* Wiskott–Aldrich syndrome
* Hyper-IgE syndrome
Other
* Common variable immunodeficiency
* ICF syndrome
T cell deficiency
(T)
* thymic hypoplasia: hypoparathyroid (Di George's syndrome)
* euparathyroid (Nezelof syndrome
* Ataxia–telangiectasia)
peripheral: Purine nucleoside phosphorylase deficiency
* Hyper IgM syndrome (1)
Severe combined
(B+T)
* x-linked: X-SCID
autosomal: Adenosine deaminase deficiency
* Omenn syndrome
* ZAP70 deficiency
* Bare lymphocyte syndrome
Acquired
* HIV/AIDS
Leukopenia:
Lymphocytopenia
* Idiopathic CD4+ lymphocytopenia
Complement
deficiency
* C1-inhibitor (Angioedema/Hereditary angioedema)
* Complement 2 deficiency/Complement 4 deficiency
* MBL deficiency
* Properdin deficiency
* Complement 3 deficiency
* Terminal complement pathway deficiency
* Paroxysmal nocturnal hemoglobinuria
* Complement receptor deficiency
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
|
Acquired C1 esterase inhibitor deficiency
|
c2931758
| 25,398 |
wikipedia
|
https://en.wikipedia.org/wiki/Acquired_C1_esterase_inhibitor_deficiency
| 2021-01-18T18:59:58 |
{"gard": ["8605"], "mesh": ["C538173"], "umls": ["C2931758"], "icd-10": ["D84.1"], "orphanet": ["91385"], "wikidata": ["Q4674768"]}
|
Fibrolamellar hepatocellular carcinoma
Other namesFHCC
Micrograph of fibrolamellar hepatocarcinoma showing the characteristic laminated fibrosis between the tumor cells with a low NC ratio. H&E stain.
SpecialtyOncology
Fibrolamellar hepatocellular carcinoma (FHCC) is a rare form of hepatocellular carcinoma (HCC) that typically affects young adults and is characterized, under the microscope, by laminated fibrous layers interspersed between the tumour cells. Approximately 200 new cases are diagnosed worldwide each year.[1]
## Contents
* 1 Cause
* 2 Pathology
* 3 Diagnosis
* 4 Treatment
* 5 Epidemiology
* 6 History
* 7 Additional images
* 8 References
* 9 External links
## Cause[edit]
A recent study showed the presence of the DNAJB1-PRKACA chimeric transcript (resulting from a 400kb somatic deletion on chromosome 19) in 100% of the FHCCs examined (15/15)[2] This gene fusion has been confirmed in a second study.[3]
## Pathology[edit]
The histopathology of FHCC is characterized by laminated fibrous layers, interspersed between the tumor cells. Cytologically, the tumor cells have a low nuclear to cytoplasmic ratio with abundant eosinophilic cytoplasm. Tumors are non-encapsulated, but well circumscribed, when compared to conventional HCC (which typically has an invasive border).[citation needed]
## Diagnosis[edit]
Due to lack of symptoms, until the tumor is sizable, this form of cancer is often advanced when diagnosed. Symptoms include vague abdominal pain, nausea, abdominal fullness, malaise and weight loss. They may also include a palpable liver mass.[4] Other presentations include jaundice, ascites, fulminant liver failure, encephalopathy, gynecomastia (males only), thrombophlebitis of the lower limbs, recurrent deep vein thrombosis, anemia and hypoglycemia.[citation needed]
The usual markers for liver disease – aspartate aminotransferase, alanine aminotransferase and alkaline phosphatase – are often normal or only slightly elevated. FHCC often does not produce alpha fetoprotein (AFP), a widely used marker for conventional hepatocellular carcinoma. It is associated with elevated neurotensin levels.[citation needed]
Diagnosis is normally made by imaging (ultrasound, CT or MRI) and biopsy[citation needed]
## Treatment[edit]
In FHCC, plasma neurotensin and serum vitamin B12 binding globulin are commonly increased and are useful in monitoring the disease and detecting recurrence.[citation needed]
FHCC can often be surgically removed. Liver resection is the optimal treatment and may need to be performed more than once, since this disease has a very high recurrence rate. Due to such recurrence, periodic follow-up medical imaging (CT or MRI) is necessary.[citation needed]
As the tumor is quite rare, there is no standard chemotherapy regimen. Radiotherapy has been used but data is limited concerning its use. The survival rate for fibrolamellar HCC largely depends on whether (and to what degree) the cancer has metastasized, i.e. spread to the lymph nodes or other organs. Distant spread (metastases), significantly reduces the median survival rate. Five year survival rates vary between 40–90%.[citation needed]
## Epidemiology[edit]
FHCC accounts for 1–10% of primary liver cancers.[5] It typically has a young age at presentation (20–40 years: mean age ~27 years[6]) when compared to conventional HCC. Unlike the more common HCC, patients most often do not have coexistent liver disease such as cirrhosis.
## History[edit]
This disease was first described by Hugh Edmondson in a 14-year-old female with no underlying liver disease.[7] The name fibrolamellar hepatocellular carcinoma was coined by Craig et al. in 1980.[8] It was not recognised as a distinct form of cancer by the WHO until 2010.[9]
## Additional images[edit]
* Intermed. mag.
* High mag.
## References[edit]
1. ^ "Teen Makes Genetic Discovery of Her Own Rare Cancer".
2. ^ Honeyman JN, Simon EP, Robine N, Chiaroni-Clarke R, Darcy DG, Lim II, Gleason CE, Murphy JM, Rosenberg BR, Teegan L, Takacs CN, Botero S, Belote R, Germer S, Emde AK, Vacic V, Bhanot U, LaQuaglia MP, Simon SM (28 February 2014). "Detection of a Recurrent DNAJB1-PRKACA Chimeric Transcript in Fibrolamellar Hepatocellular Carcinoma". Science. 343 (6174): 1010–4. Bibcode:2014Sci...343.1010H. doi:10.1126/science.1249484. PMC 4286414. PMID 24578576.
3. ^ Dinh TA, Vitucci EC, Wauthier E, Graham RP, Pitman WA, Oikawa T, Chen M, Silva G, Greene KG, Torbenson MS, Reid LM, Sethupathy P (2017) Comprehensive analysis of The Cancer Genome Atlas reveals a unique gene and non-coding RNA signature of fibrolamellar carcinoma. Sci Rep 7:44653. doi: 10.1038/srep44653
4. ^ Yen, JB.; Chang, KW. (2009). "Fibrolamellar hepatocellular carcinoma- report of a case". Chang Gung Med J. 32 (3): 336–9. PMID 19527614.
5. ^ Lafaro KJ, Pawlik TM (2015) Fibrolamellar hepatocellular carcinoma: current clinical perspectives. J Hepatocell Carcinoma 2:151–157 doi: 10.2147/JHC.S75153
6. ^ Stipa F, Yoon SS, Liau KH, et al. (March 2006). "Outcome of patients with fibrolamellar hepatocellular carcinoma". Cancer. 106 (6): 1331–8. doi:10.1002/cncr.21703. PMID 16475212.
7. ^ Edmondson HA (1956) Differential diagnosis of tumors and tumor-like lesions of liver in infancy and childhood. AMA J Dis Child 91(2):168–186
8. ^ Craig JR, Peters RL, Edmondson HA, Omata M. Fibrolamellar carcinoma of the liver: a tumor of adolescents and young adults with distinctive clinico-pathologic features. Cancer 46(2):372–379
9. ^ Bosman FT (2010) World Health Organization. WHO Classification of Tumours of the Digestive System. 4th ed. Lyon: International Agency for Research on Cancer
## External links[edit]
Classification
D
* ICD-10: C22.0
* ICD-9-CM: 155
* ICD-O: M8171/3
* MeSH: C537258
* DiseasesDB: 34518
External resources
* eMedicine: med/787
* v
* t
* e
Digestive system neoplasia
GI tract
Upper
Esophagus
* Squamous cell carcinoma
* Adenocarcinoma
Stomach
* Gastric carcinoma
* Signet ring cell carcinoma
* Gastric lymphoma
* MALT lymphoma
* Linitis plastica
Lower
Small intestine
* Duodenal cancer
* Adenocarcinoma
Appendix
* Carcinoid
* Pseudomyxoma peritonei
Colon/rectum
* Colorectal polyp: adenoma, hyperplastic, juvenile, sessile serrated adenoma, traditional serrated adenoma, Peutz–Jeghers
Cronkhite–Canada
* Polyposis syndromes: Juvenile
* MUTYH-associated
* Familial adenomatous/Gardner's
* Polymerase proofreading-associated
* Serrated polyposis
* Neoplasm: Adenocarcinoma
* Familial adenomatous polyposis
* Hereditary nonpolyposis colorectal cancer
Anus
* Squamous cell carcinoma
Upper and/or lower
* Gastrointestinal stromal tumor
* Krukenberg tumor (metastatic)
Accessory
Liver
* malignant: Hepatocellular carcinoma
* Fibrolamellar
* Hepatoblastoma
* benign: Hepatocellular adenoma
* Cavernous hemangioma
* hyperplasia: Focal nodular hyperplasia
* Nodular regenerative hyperplasia
Biliary tract
* bile duct: Cholangiocarcinoma
* Klatskin tumor
* gallbladder: Gallbladder cancer
Pancreas
* exocrine pancreas: Adenocarcinoma
* Pancreatic ductal carcinoma
* cystic neoplasms: Serous microcystic adenoma
* Intraductal papillary mucinous neoplasm
* Mucinous cystic neoplasm
* Solid pseudopapillary neoplasm
* Pancreatoblastoma
Peritoneum
* Primary peritoneal carcinoma
* Peritoneal mesothelioma
* Desmoplastic small round cell tumor
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Fibrolamellar hepatocellular carcinoma
|
c0334287
| 25,399 |
wikipedia
|
https://en.wikipedia.org/wiki/Fibrolamellar_hepatocellular_carcinoma
| 2021-01-18T18:41:40 |
{"gard": ["9396"], "mesh": ["C537258"], "umls": ["C0334287"], "icd-9": ["155"], "icd-10": ["C22.0"], "orphanet": ["401920"], "wikidata": ["Q5446468"]}
|
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