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A number sign (#) is used with this entry because of evidence that stiff skin syndrome (SSKS) is caused by heterozygous mutation in the FBN1 gene (134797) on chromosome 15q21.
Description
Stiff skin syndrome is characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness (Loeys et al., 2010).
Patients with similar phenotypes involving stiff skin have been described; see, e.g., familial progressive scleroderma (181750), symmetric lipomatosis (151800), and congenital fascial dystrophy (228020).
Clinical Features
Esterly and McKusick (1971) described a disorder characterized by thickened and indurated skin of the entire body and limitation of joint mobility with flexion contractures. One patient they reported was a sporadic case but the other had an affected sister and mother. Syndesmodysplasic dwarfism (272450) and the Parana hard-skin syndrome (260530) bear similarities to this syndrome but are apparently distinct recessive entities. Singer et al. (1977) reported a family with transmission through at least 4 generations and father-son involvement.
Pichler (1968) described a father, daughter and son with flexion deformities of fingers and toes, limited motion of several other joints and the vertebral column, sclerodermatoid changes of the skin, and generalized increase in the consistence of otherwise slightly underdeveloped muscles. Suspected myosclerosis could not be confirmed by biopsy. The appearance of the affected son rather suggested that of pseudo-Hurler polydystrophy (252600) but no corneal changes were described and autosomal dominant inheritance seems likely.
Stevenson et al. (1984) described a kindred in which many members had stiff skin beginning in adulthood. The presence of symmetrical lipomatosis suggested to the authors that this is the disorder described in entry 151800.
Loeys et al. (2010) studied 4 families segregating autosomal dominant stiff skin syndrome with high penetrance, including a family with 10 affected individuals over 5 generations. All affected individuals displayed diffusely thick and hard skin from the time of birth and had developed joint contractures. Additional clinical features not previously described for stiff skin syndrome included cutaneous nodules that predominantly affected the distal interphalangeal joints, relative short stature, and diffuse entrapment neuropathy, with nerve injury and dysfunction due to local compression. None of the patients had skeletal, ocular, or cardiovascular findings of Marfan syndrome (MFS; 154700). However, Loeys et al. (2010) also examined a 14-year-old boy with a 'hybrid' phenotype, who had ocular lens dislocation, which is a cardinal manifestation of Marfan syndrome, glaucoma, retinal detachment, and tight skin with diffuse joint contracture. The boy, who was 1 of fraternal triplets, was considerably shorter than his unaffected brothers and displayed none of the skeletal or cardiovascular manifestations of MFS.
Pathogenesis
Loeys et al. (2010) performed pulse-chase analysis of dermal fibroblasts from patients with stiff skin syndrome and controls and found equivalent secretion of fibrillin-1 (FBN1; 134797); however, confocal immunofluorescence analysis of skin biopsies from the patients revealed increased deposition of both fibrillin-1 and elastin in the dermis relative to age- and gender-matched control samples. Microfibrillar bundles at the dermal-epidermal junction had a stubby appearance in the patients, without the deep projections into the underlying dermis seen in controls. In addition, dermal deposition of elastin was seen immediately adjacent to the epidermis in the patients, a zone that shows relative exclusion of elastin in controls. Trichrome staining of skin biopsies revealed a wide zone of increased collagen deposition in the papillary dermis of the patients relative to control samples. Loeys et al. (2010) suggested that pathogenic events in stiff skin syndrome alter the amount and architecture of microfibrillar deposits and are abnormally permissive for the association of fibrillin-1 and elastin at the dermal-epidermal junction.
Molecular Genetics
Loeys et al. (2010) sequenced the FBN1 gene (134797) in probands from 4 unrelated families with stiff skin syndrome and identified heterozygous missense mutations in each, all within exon 37 of the gene (see 134797.0050-134797.0053, respectively). Another patient who had a 'hybrid' phenotype of stiff skin syndrome with ectopia lentis was found to be heterozygous for a missense mutation in exon 38 of FBN1 (134797.0054). None of the mutations were found in more than 400 ethnically matched controls.
Nomenclature
Loeys et al. (2010) used the symbol SSS for stiff skin symbol; the symbol used here is SSKS because SSS is a well-established symbol for sick sinus syndrome (see 606467).
Animal Model
Gerber et al. (2013) generated 2 Fbn1-targeted mouse models of stiff skin syndrome, one harboring a W1572C mutation, which is equivalent to human W1570C (134797.0050 and 134797.0051), and the other harboring a D1545E mutation, which eliminates the RGD motif needed to mediate cell-matrix interactions by binding to cell surface integrins. Gerber et al. (2013) showed that mouse lines harboring these mutations recapitulated aggressive skin fibrosis that is prevented by integrin-modulating therapies and reversed by antagonism of the profibrotic cytokine transforming growth factor-beta (TGFB; 190180). Mutant mice showed skin infiltration of proinflammatory immune cells, including plasmacytoid dendritic cells, T helper cells, and plasma cells, as well as autoantibody production. These findings were normalized by integrin-modulating therapies or TGFB antagonism. Gerber et al. (2013) concluded that the results show that alterations in cell-matrix interactions are sufficient to initiate and sustain inflammatory and profibrotic programs and highlight new therapeutic strategies for systemic sclerosis (181750).
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature, relative (in some patients) SKELETAL \- Limited joint mobility Limbs \- Flexion contractures Hands \- Cutaneous nodules at distal interphalangeal joints (in some patients) SKIN, NAILS, & HAIR Skin \- Thick, indurated skin over entire body MUSCLE, SOFT TISSUES \- Lipodystrophy (in some patients) \- Muscle weakness (in some patients) NEUROLOGIC Peripheral Nervous System \- Diffuse entrapment neuropathy (in some patients) MOLECULAR BASIS \- Caused by mutation in the fibrillin-1 gene (FBN1, 134797.0050 ) ▲ 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
|
STIFF SKIN SYNDROME
|
c1861456
| 25,100 |
omim
|
https://www.omim.org/entry/184900
| 2019-09-22T16:34:10 |
{"mesh": ["C566112"], "omim": ["184900"], "orphanet": ["2833"]}
|
Central serous chorioretinopathy (pachychoroid stage II) with subretinal fluid (black triangle in the middle) and a markedly thickened, congested choroid (white arrowheads).
Pachychoroid disorders of the macula represent a group of diseases affecting the central part of the retina of the eye, the macula. Due to thickening and congestion of the highly vascularized layer underneath the macula, the choroid, damage to the retinal pigment epithelium and the retinal photoreceptor cells ensues. This leads to impaired vision. The best known representative of the pachychoroid disease spectrum, central serous chorioretinopathy, is the fourth most common cause of irreversible damage to the macula:.[1][2]
The term "pachychoroid" was first introduced in 2013 by David Warrow, Quan Hoang and K. Bailey Freund.[3]
## Contents
* 1 Disease mechanism
* 2 Types of pachychoroid disorders
* 2.1 Uncomplicated pachychoroid
* 2.2 Complicated pachychoroid
* 3 Classification
* 4 References
## Disease mechanism[edit]
The disease mechanisms are not completely understood. All pachychoroid disorders of the macula show choroidal thickening and congestion with increased blood vessel diameter, especially in the deep choroid (the so-called Haller's layer). This results in increased pressure from the deep choroid against the superficial choroid close to the retina, damaging the fine blood vessels (capillaries) needed to supply oxygen and nutrients to the retinal pigment epithelium and retina. Additionally, fluid can leak from these damaged vessels and accumulate under the retina.[1][2]
## Types of pachychoroid disorders[edit]
### Uncomplicated pachychoroid[edit]
If only choroidal thickening is observed, usually to values exceeding 350 or 300 µm, but no damage to the surrounding structures is detected, eyes are classified as having an uncomplicated pachychoroid. It is assumed that a large part of the population has a thickened choroid without other signs of disease. This includes mainly young and far-sighted people, as choroidal thickness decreases with age and increasing axial length of the eye causing near-sightedness (myopia).[2]
### Complicated pachychoroid[edit]
Within the complicated pachychoroid spectrum, diseases of the centre of the retina, the macula, are the most common.
* If the continuous congestion in the blood vessel system of the choroid causes pressure damage to its fine blood vessels (capillaries) and a continuous leakage of fluid in the direction of the adjacent Bruch's membrane and retinal pigment epithelium, the resulting damage in the pigment epithelium, which can be seen on funducsopy or retinal imaging, is referred to as pachychoroid pigment epitheliopathy (PPE). Patients with PPE usually have no symptoms.[3]
* If further damage to Bruch's membrane and the pigment epithelium causes fluid to accumulate under the retina, central serous chorioretinopathy (CCS) develops. In this stage, patients often have blurred vision and report a reduction in visual acuity with perception of a central "grey spot". In the majority of patients, spontaneous resolution of the subretinal fluid occurs within a few months, but recurs in up to 50% of cases. In some patients the fluid remains, making it a chronic disease; medical therapy or the application of various laser methods is possible.
* In about 25% of all patients with a chronic central serous chorioretinopathy, a proliferation of blood vessels from the choroid towards the retina can be detected (choroidal neovascularisation, CNV). CNV forms after an average of 17 years.[4] This stage is called pachychoroid neovasculopathy (PNV), [4] which can cause a massive reduction in vision due to bleeding and scarring of the macula.[5] Anti-VEGF therapy, which is injected directly into the eye (intravitreally), has proven to be an effective therapy in this case.
* If parts of the CNV vessel wall bulge outward, so-called aneurysms develop. This stage is called pachychoroidal aneurysmal type 1 CNV (PAT1), still widely referred to as polypoidal choroidal vasculopathy (PCV). This stage is the most aggressive one, causing irreversible vision loss due to a destruction of the macula, frequently involving retinal hemorrhage. Intense anti-VEGF-therapy, often in combination with a special laser treatment (photodynamic therapy) is effective to restore visual loss and/or slow visual decline.[6]
* In all stages, focal choroidal excavation may occur, which probably represents a contraction of the choroid due to scarring processes.[7]
Beyond the spectrum of pachychoroid disorders of the macula, pachychoroid phenotypes have also been described around the optic disc, causing fluid retention in the retina (peripapillary pachychoroid).
## Classification[edit]
The individual stages of the pachychoroid disease spectrum of the macula develop sequentially from the respective preliminary stage, and can partially recede with therapy. According to Siedlecki, Schworm and Priglinger, this disease continuum can be classified into four stages[8]
Pachychoroid spectrum disorders of the macula (after Siedlecki et al.[8])
0 Uncomplicated pachychoroid (UCP)
I Pachychoroid pigmentepitheliopathy (PPE)
II Central serous chorioretinopathy (CCS)
III Pachychoroid neovasculopathy (PNV)
a) with neurosensory detachment (=subretinal fluid)
b) without neurosensory detachment (no subretinal fluid)
IV Pachychoroid aneurysmal type 1 choroidal neovascularization (PAT1)
(also polypoidal choroidal vasculopathy, PCV)
## References[edit]
1. ^ a b Akkaya, Sezen (October 2018). "Spectrum of pachychoroid diseases". International Ophthalmology. 38 (5): 2239–2246. doi:10.1007/s10792-017-0666-4. ISSN 0165-5701. PMID 28766279. S2CID 4022900.
2. ^ a b c Cheung, Chui Ming Gemmy; Lee, Won Ki; Koizumi, Hideki; Dansingani, Kunal; Lai, Timothy Y. Y.; Freund, K. Bailey (January 2019). "Pachychoroid disease". Eye. 33 (1): 14–33. doi:10.1038/s41433-018-0158-4. ISSN 0950-222X. PMC 6328576. PMID 29995841.
3. ^ a b Warrow, David J.; Hoang, Quan V.; Freund, K. Bailey (September 2013). "Pachychoroid Pigment Epitheliopathy". Retina. 33 (8): 1659–1672. doi:10.1097/IAE.0b013e3182953df4. ISSN 0275-004X. PMID 23751942. S2CID 24713659.
4. ^ Mrejen, Sarah; Balaratnasingam, Chandrakumar; Kaden, Talia R.; Bottini, Alexander; Dansingani, Kunal; Bhavsar, Kavita V.; Yannuzzi, Nicolas A.; Patel, Samir; Chen, Kevin C.; Yu, Suqin; Stoffels, Guillaume (April 2019). "Long-term Visual Outcomes and Causes of Vision Loss in Chronic Central Serous Chorioretinopathy". Ophthalmology. 126 (4): 576–588. doi:10.1016/j.ophtha.2018.12.048. PMID 30659849.
5. ^ Pang, Claudine E.; Freund, K. Bailey (January 2015). "Pachychoroid Neovasculopathy". Retina. 35 (1): 1–9. doi:10.1097/IAE.0000000000000331. ISSN 0275-004X. PMID 25158945. S2CID 205645261.
6. ^ Koh, Adrian; Lee, Won Ki; Chen, Lee-Jen; Chen, Shih-Jen; Hashad, Yehia; Kim, Hakyoung; Lai, Timothy Y.; Pilz, Stefan; Ruamviboonsuk, Paisan; Tokaji, Erika; Weisberger, Annemarie (September 2012). "EVEREST STUDY: Efficacy and Safety of Verteporfin Photodynamic Therapy in Combination with Ranibizumab or Alone Versus Ranibizumab Monotherapy in Patients with Symptomatic Macular Polypoidal Choroidal Vasculopathy". Retina. 32 (8): 1453–1464. doi:10.1097/IAE.0b013e31824f91e8. ISSN 0275-004X. PMID 22426346. S2CID 22366167.
7. ^ Chung, Hyewon; Byeon, Suk Ho; Freund, K. Bailey (February 2017). "FOCAL CHOROIDAL EXCAVATION AND ITS ASSOCIATION WITH PACHYCHOROID SPECTRUM DISORDERS: A Review of the Literature and Multimodal Imaging Findings". Retina. 37 (2): 199–221. doi:10.1097/IAE.0000000000001345. ISSN 0275-004X. PMID 27749784. S2CID 38189051.
8. ^ a b Siedlecki, Jakob; Schworm, Benedikt; Priglinger, Siegfried G. (December 2019). "The Pachychoroid Disease Spectrum—and the Need for a Uniform Classification System". Ophthalmology Retina. 3 (12): 1013–1015. doi:10.1016/j.oret.2019.08.002. PMID 31810570.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Pachychoroid disorders of the macula
|
None
| 25,101 |
wikipedia
|
https://en.wikipedia.org/wiki/Pachychoroid_disorders_of_the_macula
| 2021-01-18T19:03:53 |
{"wikidata": ["Q90649724"]}
|
A number sign (#) is used with this entry because of evidence that familial atrial fibrillation-15 (ATFB15) is caused by homozygous mutation in the NUP155 gene (606694) on chromosome 5p13. One such family has been reported.
Description
Atrial fibrillation (AF) is a supraventricular tachyarrhythmia characterized by uncoordinated atrial activation with consequent deterioration of atrial mechanical function. It is the most common sustained cardiac rhythm disturbance, and its prevalence increases as the population ages. An estimated 70,000 strokes each year are caused by atrial fibrillation (summary by Oberti et al., 2004).
For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.
Clinical Features
Oberti et al. (2004) studied a large Uruguayan family segregating autosomal recessive atrial fibrillation that had early onset in the fetal stage and was associated with neonatal sudden death and, in some cases, ventricular tachyarrhythmias and waxing and waning cardiomyopathy. The proband was delivered by cesarean section at 36 weeks of pregnancy due to fetal tachycardia with a rate of 250 bpm and atrial fibrillation/flutter. Supraventricular tachyarrhythmias continued after delivery; echocardiogram at 2 days showed marked dilation of both atria and an ejection fraction of 52%. Electrophysiologic study at 1 month detected atrial fibrillation/flutter. After unsuccessful linear ablation of the left atrium, the patient underwent ablation of the atrioventricular node followed by placement of a permanent pacemaker because of the high frequency of sudden death in the family. At 2 months of age, only mild atrial dilation was observed, and the ejection fraction was borderline normal; at 4 months of age, the ejection fraction was 52%. The proband died suddenly at 15 months. He had 2 affected brothers; 1 was born with supraventricular tachycardia, and electrocardiography (ECG) at 24 days showed atrial flutter with a rate of 200 bpm. No structural heart abnormalities were detected by echocardiography at 24 days, but a later echocardiogram showed dilation of the left atrium and ventricle as well as decreased contractility with an ejection fraction of 43%; this brother died at 3 months of age. The proband's other brother was born with atrial tachycardia; echocardiography did not detect structural heart disease, and he died at 2 months of age. In another branch of the family, a female infant was born with atrial tachycardia, and cardioversion was performed at 20 days of age. An echocardiogram at age 1 month showed normal atrial and ventricular sizes. The infant died at 18 months of age. Her sister exhibited the typical features of AF on ECG, with absent or difficult-to-count P waves, fast atrial rate, and inconsistent R-R intervals; the QTc was 0.40 ms. Echocardiogram was normal at 15 months of age, and medical treatment appeared to maintain the patient in sinus rhythm with a heart rate of 125 bpm; however, she died suddenly at 19 months of age. All parents had a normal phenotype, and the sisters' mother and maternal grandmother had no structural cardiac anomalies on echocardiography.
Mapping
Oberti et al. (2004) performed a genomewide scan in 36 members of a large Uruguayan family segregating autosomal recessive atrial fibrillation and obtained a peak 2-point lod score of 3.05 at marker D5S455 on chromosome 5p13 (theta = 0) using marker allele frequencies specific to the Uruguayan population. Fine mapping yielded a maximum multipoint lod score of 4.10 for a region spanned by 4 markers (D5S493, D5S426, D5S455, and D5S1998), and recombination events narrowed the disease locus to a 7.76-cM interval between D5S1506 and D5S1490. None of the 24 family members who were heterozygous carriers of the disease haplotype exhibited atrial fibrillation. Detailed analysis of ECG parameters in 19 heterozygous carriers and 5 noncarriers revealed a highly significant difference in P-wave duration between carriers and noncarriers (107 ms for carriers vs 85 ms for noncarriers; p = 0.0000122).
Zhang et al. (2008) restudied the Uruguayan family with autosomal recessive AF that was originally described by Oberti et al. (2004), into which a new affected male infant had been born. The maximum 2-point lod score increased to 4.04 in the expanded pedigree (theta = 0), and the maximum multipoint lod score increased to 4.40. Fine mapping restricted the 5p13 AF locus between the NPR3 (108962) and PTGER4 (601586) genes, and recombination events further defined the AF locus within a 5.75-Mb interval.
Molecular Genetics
In a large Uruguayan family segregating autosomal recessive AF mapping to chromosome 5p13, originally studied by Oberti et al. (2004), Zhang et al. (2008) analyzed candidate genes and identified a homozygous missense mutation in NUP155 (R391H; 606694.0001) that segregated fully with disease in the family and was not found in 1,700 controls.
### Exclusion Studies
In an Uruguayan family with neonatal-onset AF mapping to chromosome 5p13, Oberti et al. (2004) sequenced the candidate ion channel gene SLC1A3 (600111), but detected no mutations.
Animal Model
Zhang et al. (2008) generated a Nup155 knockout mouse line and observed that Nup155 +/- mice exhibited a sustained atrial fibrillation phenotype involving absence of discrete P waves and irregular R-R intervals on continuous telemetry electrocardiographic recordings. Electrophysiologic analysis of Nup155 +/- atrial myocytes showed a significantly shortened action potential duration compared to wildtype.
INHERITANCE \- Autosomal recessive CARDIOVASCULAR Heart \- Absent or difficult-to-count P waves on electrocardiogram (ECG) \- Fast atrial rate \- Inconsistent R-R intervals on ECG \- Atrial fibrillation \- Atrial flutter \- Ventricular tachyarrhythmias (in some patients) \- Atrial dilation (in some patients) \- Ventricular dilation (in some patients) \- Decreased ejection fraction (in some patients) \- Prolongation of P-wave on ECG in heterozygous carriers MISCELLANEOUS \- Arrhythmias detected prenatally (in some patients) \- Frequent neonatal sudden death \- Waxing and waning cardiomyopathy (in some patients) \- Based on 1 Uruguayan family (last curated April 2014) MOLECULAR BASIS \- Caused by mutation in the 155-kd nucleoporin gene (NUP155, 606694.0001 ) ▲ 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
|
ATRIAL FIBRILLATION, FAMILIAL, 15
|
c4014269
| 25,102 |
omim
|
https://www.omim.org/entry/615770
| 2019-09-22T15:51:01 |
{"doid": ["0050650"], "omim": ["615770", "608583"], "orphanet": ["334"], "synonyms": []}
|
Transcobalamin deficiency is a disorder that impairs the transport of cobalamin (also known as vitamin B12) within the body. Cobalamin is obtained from the diet; this vitamin is found in animal products such as meat, eggs, and shellfish. An inability to transport cobalamin within the body results in cells that lack cobalamin, which they need for many functions including cell growth and division (proliferation) and DNA production. The absence of cobalamin leads to impaired growth, a shortage of blood cells, and many other signs and symptoms that usually become apparent within the first weeks or months of life.
The first signs of transcobalamin deficiency are typically a failure to gain weight and grow at the expected rate (failure to thrive), vomiting, diarrhea, and open sores (ulcers) on the mucous membranes such as the lining inside the mouth. Neurological function is impaired in affected individuals, and they can experience progressive stiffness and weakness in their legs (paraparesis), muscle twitches (myoclonus), or intellectual disability.
People with transcobalamin deficiency often develop a blood disorder called megaloblastic anemia. Megaloblastic anemia results in a shortage of red blood cells, and the remaining red blood cells are abnormally large. Individuals with transcobalamin deficiency may also have a shortage of white blood cells (neutropenia), which can lead to reduced immune system function. Decreased cellular cobalamin can lead to a buildup of certain compounds in the body, resulting in metabolic conditions known as methylmalonic aciduria or homocystinuria.
## Frequency
The prevalence of transcobalamin deficiency is unknown. At least 45 affected individuals have been described in the medical literature.
## Causes
Mutations in the TCN2 gene cause transcobalamin deficiency. The TCN2 gene provides instructions for making a protein called transcobalamin. This protein attaches (binds) to cobalamin and transports the vitamin to cells throughout the body. Within cells, cobalamin helps certain enzymes carry out chemical reactions. Cobalamin plays a role in the processes that produce the building blocks of DNA (nucleotides) and break down various compounds such as fatty acids; these processes are needed for cell proliferation and the production of cellular energy.
Most TCN2 gene mutations that cause transcobalamin deficiency lead to a complete or near-complete lack (deficiency) of transcobalamin. Other TCN2 gene mutations result in a transcobalamin protein that cannot transport cobalamin to cells. The resulting lack of cobalamin within cells interferes with the functioning of certain enzymes, which impacts many cell activities. As a result, a wide range of signs and symptoms can develop including impaired growth, blood cell shortages, and neurological problems.
### Learn more about the gene associated with Transcobalamin deficiency
* TCN2
## 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
|
Transcobalamin deficiency
|
c0342701
| 25,103 |
medlineplus
|
https://medlineplus.gov/genetics/condition/transcobalamin-deficiency/
| 2021-01-27T08:24:38 |
{"gard": ["5239"], "omim": ["275350"], "synonyms": []}
|
A number sign (#) is used with this entry because of evidence that Fuchs endothelial corneal dystrophy-1 (FECD1) is caused by heterozygous mutation in the COL8A2 gene (120252) on chromosome 1p34.
Description
Fuchs endothelial corneal dystrophy (FECD) is a progressive, bilateral condition characterized by dysfunction of the corneal epithelium, leading to reduced vision. The prevalence of FECD has been estimated at about 5% among persons over the age of 40 years in the United States. The vision loss in patients with FECD results from a loss of corneal transparency associated with irregularity of inner corneal layers in early disease and edema of the cornea in advanced disease. Ultrastructural features of FECD include loss and attenuation of endothelial cells, with thickening and excrescences of the underlying basement membrane. These excrescences, called guttae, are the clinical hallmark of FECD and become more numerous with progression of the disease. As the endothelial layer develops confluent guttae in the central cornea, the cells are no longer able to keep the cornea dehydrated and clear (summary by Baratz et al., 2010).
### Genetic Heterogeneity of Fuchs Endothelial Corneal Dystrophy
More common, late-onset forms of FECD have been shown to be caused by mutation in the SLC4A11 gene (610206) on chromosome 20p13 (FECD4; 613268), in the ZEB1 gene (189909) on chromosome 10p11.2 (FECD6; 613270), and in the AGBL1 gene (615496) on chromosome 15q25 (FECD8; 615523).
Other loci for late-onset FECD have been identified on chromosomes 13pter-q12.13 (FECD2; 610158), 18q21.2-q21.32 (FECD3; 613267), 5q33.1-q35.2 (FECD5; 613269), and 9p (FECD7; 613271).
Clinical Features
Gottsch et al. (2005) restudied a family with early-onset Fuchs endothelial corneal dystrophy that had been reported by Magovern et al. (1979). They noted that the corneal guttae were small, rounded, and associated with the endothelial cell center, whereas the guttae seen in common FECD are larger, sharply peaked, and initially positioned at edges of endothelial cells. Affected family members were found to have a mutation in the COL8A2 gene (120252.0003). Among affected family members were children as young as 3 years. All who were in the early stages of the disease in 1979 had progressed to corneal decompensation, and several had undergone penetrating keratoplasty. Gottsch et al. (2005) noted that this natural history fit well with the early-onset family with a mutation in the COL8A2 gene (120252.0001) reported by Biswas et al. (2001) in which FECD was diagnosed in individuals from ages 21 to 48, and those in their 30s and 40s had advanced stages of the disease. The profile of age and disease severity for the FECD kindred restudied by Gottsch et al. (2005) suggested that disease onset occurred in infancy, compared with an average age of onset of 50 years estimated for 201 familial FECD patients in 62 other families in which mutations in COL8A2 were not found. The disorder progressed from early to late stages in 25 years, a rate similar to that estimated for the more common late-onset FECD. Gottsch et al. (2005) compared the sex distribution in their early-onset FECD kindred with that of 62 late-onset FECD pedigrees. There was an approximately 1:1 female:male ratio in the early-onset pedigree compared with a 2:1 ratio in the late-onset families.
Liskova et al. (2007) reported a 3-generation British family in which 4 individuals had Fuchs endothelial corneal dystrophy. A 79-year-old man was diagnosed with 'endothelial pathology' at 23 years of age; at age 75, he underwent left penetrating keratoplasty with cataract extraction and intraocular lens implantation. Histology of the cornea showed thickening of the Descemet membrane without cornea guttata; however, guttae were present in his right eye. The proband's 53-year-old daughter experienced visual deterioration in her mid-twenties due to bilateral corneal edema; she underwent right penetrating graft at 34 years of age, and left penetrating keratoplasty at age 41. Her affected son showed endothelial changes at age 9 years but still had 20/20 vision at age 18. Examination of the proband's asymptomatic 55-year-old son showed endothelial pleomorphism and guttae located both centrally and within the borders of endothelial cells.
Hecker et al. (2011) studied whether keratocyte populations were different in 11 corneas excised during penetrating keratoplasty for FECD corneas, 5 control corneas of eyes enucleated for choroidal melanoma, and 20 age-matched control corneas. By histology, the mean (SD) number of cells in a full-thickness column of stroma in FECD (12,215 (1394) cells) was less than in control corneas (15,628 (710) cells; p less than 0.001). The mean (SD) number of keratocytes in the anterior 10% of the corneal stroma with FECD (682 (274) cells) was less than in the control corneas measured using histology (1858 (404) cells; p less than 0.001) and by confocal microscopy (1481 (397) cells; p less than 0.001). Hecker et al. (2011) concluded that keratocytes were depleted by 54 to 63% in the anterior 10% of the stroma of corneas that required penetrating keratoplasty for FECD. They suggested that keratocyte loss might contribute to anterior stromal changes that persist and degrade vision after endothelial keratoplasty.
Wacker et al. (2015) determined anterior and posterior corneal wavefront higher-order aberrations (HOAs) in 108 eyes (62 subjects) with a range of severity of FECD and 71 normal eyes (38 subjects). Total anterior corneal HOAs were increased in moderate and advanced FECD compared with controls. Total posterior corneal HOAs were increased in mild, moderate, and advanced FECD compared with controls. Both anterior and posterior corneal backscatter were greater for all severities of FECD compared with controls. Wacker et al. (2015) suggested that early onset of HOAs in FECD might contribute to the persistence of HOAs and incomplete visual rehabilitation after endothelial keratoplasty.
Biochemical Features
Wang et al. (2007) described the histopathologic features of Descemet membrane (DM) obtained from FECD corneas undergoing Descemet stripping with endothelial keratoplasty (DSEK) and assessed the presence of advanced glycation end products (AGEs) and their receptors (RAGEs) in FECD endothelium and DM. Histopathologic assessment of specimens from FECD patients revealed thickening and nodularity of DM and loss of endothelial cells. Immunohistochemical staining of FECD DM for AGE, RAGE, and galactin-3 (AGE-R3) showed an abundance of AGEs in the anterior portion of DM, mild positivity for RAGE, and moderate positivity for AGE-R3. Wang et al. (2007) concluded that the presence of AGEs, RAGE, and AGE-R3 in DM and corneal endothelium of FECD patients supported a link between accumulation of advanced glycation end products, oxidative stress, and corneal endothelial cell apoptosis in the pathogenesis of FECD.
Azizi et al. (2011) compared susceptibility of FECD and normal corneal endothelial cells (CECs) to oxidative stress, and studied the mechanism of oxidative stress-induced apoptosis in FECD-affected endothelium. Immortalized normal and FECD human corneal endothelial cell lines were exposed to oxidative stress. FECD CECs were more susceptible to oxidative DNA damage and oxidative stress-induced apoptosis than normal cells. Increased activation of transcription factor p53 (191170) in FECD suggested to Azizi et al. (2011) that it was p53 that mediated cell death in susceptible CECs. Azizi et al. (2011) concluded that p53 plays a critical role in complex mechanisms regulating oxidative stress-induced apoptosis in FECD.
Molecular Genetics
Biswas et al. (2001) conducted a genomewide search of a 3-generation family with early-onset FECD and identified a critical region of 6 to 7 cM at chromosome 1p34.3-p32, which includes the COL8A2 (120252) gene. COL8A2 encodes a short-chain collagen which is a component of endothelial basement membranes and which represented a strong candidate gene. Analysis of its coding sequence defined a gln455-to-lys missense mutation (Q455K; 120252.0001) within the triple helical domain of the protein in this family. Mutation analysis in other patients demonstrated further missense substitutions in familial and sporadic cases of FECD, as well as in a single family with posterior polymorphous corneal dystrophy (PPCD2; 609140). The authors suggested that the underlying pathogenesis of FECD and PPCD2 may be related to disturbance of the role of type VIII collagen in influencing the terminal differentiation of the neural crest-derived corneal endothelial cell.
In affected members of the autosomal dominant kindred with early-onset Fuchs endothelial corneal dystrophy reported by Magovern et al. (1979), Gottsch et al. (2005) identified heterozygosity for a novel point mutation in the COL8A2 gene that resulted in a leu450-to-trp amino acid substitution (L450W; 120252.0003).
In affected members of a 3-generation British family with Fuchs endothelial corneal dystrophy, Liskova et al. (2007) identified heterozygosity for the L450W mutation in the COL8A2 gene.
Mok et al. (2009) screened the COL8A2 gene in 25 Korean FECD patients, including 15 patients from 6 pedigrees with early-onset disease and 10 unrelated patients, and identified heterozygosity for a missense mutation (Q455V; 120252.0004) in all familial FECD patients as well as in 2 of the sporadic cases. The mutation, which segregated with disease in all 6 pedigrees, was not found in 73 Korean controls without corneal disease. Diagnosis was made in the third or fourth decade of life in the probands from the FECD families. Slit-lamp examination of a mutation-positive patient from 1 family showed corneal guttae on the posterior corneal surface, with the coarse and distinct pattern characteristic of early-onset disease.
Population Genetics
Minear et al. (2013) analyzed the COL8A2, SLC4A11, and ZEB1 genes in 47 African American probands with FECD, but identified no causative variants. The authors concluded that variation in these genes does not appear to significantly contribute to the genetic risk or FECD in African Americans.
Animal Model
Jun et al. (2012) studied homozygous knockin 10-month-old mice carrying the Col8a2 Q455K mutation (120252.0001) and observed features strikingly similar to human disease, including progressive alterations in endothelial cell morphology, cell loss, and basement membrane guttae. Ultrastructural analysis showed the predominant effect to be dilated endoplasmic reticulum (ER), suggesting ER stress and unfolded protein response (UPR) activation. Immunohistochemistry, Western blot, QT-PCR, and TUNEL analyses supported UPR activation and UPR-associated apoptosis in the mutant corneal endothelium. Jun et al. (2012) concluded that the Q455K mutation in COL8A2 causes FECD through a mechanism involving the UPR and UPR-associated apoptosis.
Meng et al. (2013) generated knockin mice homozygous for the Col8a2 L450W mutation (120252.0003) and observed a milder corneal endothelial phenotype than that of the homozygous Q455K mice reported by Jun et al. (2012); however, both mutants exhibited the hallmarks of FECD, including reduced numbers of endothelial cells, presence of guttae, and variations in cell size as well as deviations from the normal hexagonal shape. In addition, both mutants showed upregulation of the UPR as evidenced by dilated rough ER and upregulation of UPR-associated genes and proteins. RT-PCR of corneal endothelial cells from L450W and Q455K mutant mice at 40 weeks revealed 2.1- and 5.2-fold upregulation of the autophagy marker Dram1 (610776), respectively. RT-PCR of human FECD endothelium of unknown genotype showed 10.4-fold upregulation of DRAM1 compared to autopsy controls. Meng et al. (2013) suggested that altered autophagy plays a role in FECD.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Early-onset corneal degeneration \- Central corneal endothelial guttata and folds \- Endothelial cell death with hypertrophy and polymorphism of surviving cells \- Corneal stromal edema \- Microcystic epithelial edema \- Dystrophy does not recur after penetrating keratoplasty \- Anterior and posterior wavefront higher-order aberrations \- Anterior and posterior corneal backscatter \- Incomplete symptom resolution after endothelial keratoplasty MISCELLANEOUS \- Usually sporadic \- Onset by 3rd or 4th decade (earlier onset rare) \- Greater expression in females \- Female to male ratio, 1:1 MOLECULAR BASIS \- Caused by mutation in the collagen type VIII alpha-2 gene (COL8A2, 120252.0001 ) ▲ 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
|
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1
|
c0016781
| 25,104 |
omim
|
https://www.omim.org/entry/136800
| 2019-09-22T16:40:54 |
{"doid": ["11555"], "mesh": ["D005642"], "omim": ["136800"], "orphanet": ["98974"], "synonyms": ["Alternative titles", "CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, EARLY-ONSET"]}
|
A rare acute myeloid leukemia characterized by primary differentiation to basophils. Microscopically, peripheral blood and bone marrow blasts contain coarse cytoplasmic basophilic granules which are positive with metachromatic staining (toluidine blue). Electron microscopy confirms that granules show features characteristic of basophil precursors. Mature basophils are usually sparse. Patients may present with manifestations related to bone marrow failure, as well as hepatosplenomegaly, cutaneous involvement, lytic lesions, and hyperhistaminemia. The disease is associated with a poor prognosis.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Acute basophilic leukemia
|
c0023437
| 25,105 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86849
| 2021-01-23T18:42:59 |
{"mesh": ["D015471"], "umls": ["C0023437"], "icd-10": ["C94.7"]}
|
## Summary
### Clinical characteristics.
IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end.
Individuals with VWS show one or more of the following anomalies:
* Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip
* Cleft lip (CL)
* Cleft palate (CP)
Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often as CP only.
* Submucous cleft palate (SMCP)
The PPS phenotype includes the following:
* CL±P
* Fistulae of the lower lip
* Webbing of the skin extending from the ischial tuberosities to the heels
* In males: bifid scrotum and cryptorchidism
* In females: hypoplasia of the labia majora
* Syndactyly of fingers and/or toes
* Anomalies of the skin around the nails
* A characteristic pyramidal fold of skin overlying the nail of the hallux (almost pathognomonic)
* In some non-classic forms of PPS: filiform synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon)
In both VWS and PPS, growth and intelligence are normal.
### Diagnosis/testing.
Diagnosis of VWS and PPS is based on clinical findings. Detection of a heterozygous pathogenic variant in IRF6 confirms the diagnosis in approximately 72% of individuals with the Van der Woude syndrome phenotype and approximately 97% of individuals with the popliteal pterygium syndrome phenotype.
### Management.
Treatment of manifestations: Supportive/symptomatic treatment may include surgery, pediatric dentistry, orthodontia, speech therapy, feeding and hearing evaluation, physical therapy, and orthopedic care.
Prevention of secondary complications: Timely treatment of otitis media due to eustachian tube dysfunction to prevent secondary hearing loss; evaluations by a speech-language pathologist can aid in determining if speech therapy or other interventions are appropriate for a child with secondary hearing loss.
Surveillance: Parameters for surveillance for cleft lip and/or cleft palate have been published by the American Cleft Palate-Craniofacial Association.
### Genetic counseling.
IRF6-related disorders are inherited in an autosomal dominant manner. Most individuals diagnosed with an IRF6-related disorder have an affected parent; however, penetrance is incomplete and de novo mutation has been reported. The risk to the sibs of the proband depends on the genetic status of the proband's parents. If a parent of the proband is affected or has an IRF6 pathogenic variant, the risk to the sibs of inheriting the pathogenic variant is 50%. Prenatal diagnosis for pregnancies at increased risk is possible using molecular genetic testing if the pathogenic variant has been identified in an affected family member. Prenatal ultrasound examination may detect a cleft lip with/without cleft palate in some fetuses later in the second trimester, but it is much less likely to detect an isolated cleft palate or lip pits.
## Diagnosis
IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end.
Van der Woude syndrome. To make the diagnosis of Van der Woude syndrome, at least one of the following three findings must be present:
* Lip pits* in combination with one of the following:
* Cleft lip with or without cleft palate (CL±P)
* Cleft palate (CP)
* Submucous cleft palate (SMCP)
* Lip pits* alone and a first-degree relative with CL±P, CP, or SMCP
* CL±P, CP, or SMCP and a first-degree relative with lip pits*
* Lip pits must be paramedian on the lower lip, and can include mounds with a sinus tract leading from a mucous gland of the lip.
Note:
(1) In families in which lip pits are present in at least one family member, molecular genetic testing of IRF6 is appropriate.
(2) Presence of cleft lip (CL) or cleft lip and palate (CL+P) together with cleft palate only (CP) in the same family should also suggest VWS and should prompt a close search for lip pits and consideration of molecular genetic testing even if lip pits are not found; see (3).
(3) Since lip pits are not present in 15% of persons with VWS, it is possible that some individuals with a de novo IRF6 pathogenic variant will not have lip pits or a family member with lip pits.
(4) Most individuals with Van der Woude syndrome have normal psychomotor development. Presence of psychomotor disabilities may be seen in rare individuals with Van der Woude syndrome or popliteal pterygium syndrome. However, psychomotor delay (observed in multiple family members in only one of >350 reported families studied) may be the result of an unrelated cause [Sander et al 1994].
Popliteal pterygium syndrome. To make the diagnosis of popliteal pterygium syndrome, an individual must have (1) the lip and/or palate anomalies listed for Van der Woude syndrome and (2) one or more of the following:
* Popliteal pterygia
* Syndactyly
* Abnormal external genitalia
* Ankyloblepharon
* Pyramidal skin on the hallux
* A spectrum of intraoral adhesions, the most severe of which is complete syngnathia
### Confirming the Diagnosis
The diagnosis of an IRF6-related disorder is confirmed by detection of a heterozygous pathogenic variant in IRF6 (Table 1).
One genetic testing strategy is to perform sequential molecular genetic testing.
1.
Sequence analysis of exons 1 through 8 and the coding region of exon 9 of IRF6 should be performed first.
2.
If sequence analysis of IRF6 does not yield a pathogenic variant, deletion/duplication analysis of IRF6 can be considered.
3.
If molecular genetic testing of IRF6 does not yield a pathogenic variant, sequence analysis followed by deletion/duplication analysis of GRHL3 should be considered (see Differential Diagnosis).
4.
If no pathogenic variant is identified in IRF6 or GRHL3, sequence analysis of MCS9.7, the enhancer element located 9.7 kb upstream of the transcriptional start site of IRF6 [Fakhouri et al 2014] can be considered.
An alternative genetic testing strategy is use of a multigene panel that includes IRF6 and other genes of interest (see Differential Diagnosis). Note: The genes included and the methods used in multigene panels vary by laboratory and are likely to change over time.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
### Table 1.
Summary of Molecular Genetic Testing Used in IRF6-Related Disorders
View in own window
Gene 1PhenotypeMethodProportion of Probands with a Pathogenic Variant Detectable by Method
IRF6VWSSequence analysis 2~72% 3
Deletion/duplication analysis 4<2% (7/448) 5
PPSSequence analysis 2~97% 6
Deletion/duplication analysis 4Unknown 7
1\.
See Table A. Genes and Databases for chromosome locus and protein. See Molecular Genetics for information on allelic variants detected in this gene.
2\.
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.
3\.
Sequence analysis of IRF6 (exons 1-9) detects pathogenic variants in approximately 68% of individuals with VWS [de Lima et al 2009]. Pathogenic variants in exons 3, 4, 7, and 9 account for 80% of known VWS-causing variants (N=307) [de Lima et al 2009].
4\.
Testing that identifies exon or whole-gene deletions/duplications not detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.
5\.
Whole- and partial-gene deletions have been found in fewer than 2% (7/448) of families with VWS [Sander et al 1994, Schutte et al 1999, Kayano et al 2003, Osoegawa et al 2008, Tan et al 2008, de Lima et al 2009]. The frequency of deletions smaller than 10 kb is unknown.
6\.
Sequence analysis of exon 4 of the IRF6 coding region detects pathogenic variants in approximately 72% of individuals with PPS [de Lima et al 2009]. Additional sequencing of the entire coding region of IRF6 detects pathogenic variants in approximately 97% of individuals with PPS (N=37) [de Lima et al 2009].
7\.
Unknown, but likely rare, pathogenic variants were identified on sequence analysis in 36 of 37 individuals with PPS [de Lima et al 2009].
## Clinical Characteristics
### Clinical Description
The craniofacial features of Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) form a continuum such that it is often difficult to distinguish between mildly affected individuals with PPS and those with VWS [Bixler et al 1973, Soekarman et al 1995, Lees et al 1999, Kondo et al 2002].
#### Van der Woude Syndrome
Individuals with VWS show one or more of the following anomalies: congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip; cleft lip (CL); cleft palate (CP); or submucous cleft palate (SMCP) [Van der Woude 1954].
Van der Woude [1954] observed that 27% of the offspring of affected parents had lip fistulae alone and 21% had fistulae associated with CL and/or CP. Burdick et al [1985] gathered information on 864 affected individuals from 164 families. In this population, 44% had lip pits only, 37% had cleft lip (with/without lip pits and with/without cleft palate), 16% had cleft palate only (with/without lip pits), and 3% had no apparent phenotype. Overall, lip pits were observed in 86% of affected individuals.
The ratio of cleft lip with or without cleft palate (CL±P) to "CP only" is about two to one in individuals with VWS [Burdick et al 1985]. Of note, this is the same relative proportion as in the general population.
The IRF6-related disorders are especially interesting as there are very few single-gene disorders or genetic syndromes in which individuals from the same family have both types of clefting (i.e., one family member having cleft palate alone and another having cleft lip and palate). This type of mixed clefting can also occur with mutation of MSX1 [van den Boogaard et al 2000], TP63, and FGFR1 and can be seen in individuals with 22q11.2 deletion syndrome, fetal alcohol syndrome, Kabuki syndrome, and CHARGE syndrome (see Differential Diagnosis).
The sex ratio is nearly equal in VWS for CP and CL±P, as well as for the presence of lip pits. It was also noted that CL±P and CP co-occur both vertically and horizontally in pedigrees. Forty percent of families with at least three affected individuals have both forms of clefting; in those, 75% have both forms of clefting in sibs.
Non-classic forms of the VWS phenotype have been described [Soricelli et al 1966, Ranta & Rintala 1983, Ranta et al 1983, Schinzel & Klausler 1986, Burdick et al 1987, Gorlin et al 1990, Kantaputra et al 2002]; features include:
* Conical elevations (CE) of the lip
* Single unilateral lip pits
* Bulges located below the vermilion border
* Hypodontia
* Submucous cleft
* Bifid uvula
* Ankyloglossia
* Limb abnormalities
* Hirschsprung disease
* Hearing loss
Growth and intelligence are normal. An exception is a family in which affected individuals had developmental disabilities and a large contiguous gene deletion that spans IRF6 [Sander et al 1994]. Rarely developmental delay may be presumed to be unrelated in a family that also segregates VWS [Zechi-Ceide et al 2007]. In two other families, individuals with large deletions had normal intelligence [Schutte et al 1999, Kayano et al 2003]. In one of the latter cases, the deletion was even larger than that described by Sander et al [1994], suggesting that developmental delay in the family of Sander et al [1994] is not related to deletion of IRF6.
In another small study, Jones et al [2010] found that following surgery for their clefts, eight (47%) of 17 individuals with VWS had wound complications compared to 13 (19%) of 68 individuals with nonsyndromic cleft lip and/palate (NSCLP).
#### Popliteal Pterygium Syndrome
The PPS phenotype includes cleft lip and/or palate (91%-97% of individuals); fistulae of the lower lip (45.6% [Froster-Iskenius 1990]); webbing of the skin extending from the ischial tuberosities to the heels, bifid scrotum and cryptorchidism in males, hypoplasia of the labia majora in females, syndactyly of fingers and/or toes, and anomalies of the skin around the nails [Lewis 1948, Rintala et al 1970]. A characteristic pyramidal fold of skin overlying the nail of the hallux is almost pathognomonic.
Growth and intelligence are normal.
Non-classic forms of the PPS phenotype have been described [Leck & Aird 1984, Froster-Iskenius 1990, Puvabanditsin et al 2003, Matsuzawa et al 2010]. These include:
* Filiform synechiae connecting the upper and lower jaws (syngnathia) and/or the upper and lower eyelids (ankyloblepharon);
* Spina bifida occulta.
### Genotype-Phenotype Correlations
Van der Woude syndrome. Whole-gene deletions and nearly all protein truncation variants cause a VWS phenotype. Missense variants that cause VWS are evenly divided between the two protein domains encoded in exons 3, 4, and 7-9. Two pathogenic missense variants at arginine 84, p.Arg84Gly [Item et al 2005] and p.Arg84Pro [de Lima et al 2009], are found only in individuals with VWS, suggesting that p.Arg84Gly and p.Arg84Pro affect IRF6 function differently from p.Arg84His and p.Arg84Cys, which are seen most commonly in PPS.
Popliteal pterygium syndrome. Most missense variants that cause PPS are located in exon 4.
It appears likely that certain pathogenic variants (p.Arg84His, p.Arg84Cys) are more apt to cause PPS than VWS. A cluster of pathogenic missense variants in the DNA binding domain that are predicted to directly contact the DNA are more commonly seen in families with PPS (p<0.01); these include p.Trp60, p.Lys66, p.Gln82, p.Arg84, and p.Lys89. However, families may include individuals with features of only VWS and other members with the additional features of PPS.
### Penetrance
IRF6-related disorders have high, but incomplete, penetrance.
Van der Woude syndrome. Additional studies have supported Van der Woude's observation of dominant inheritance with variable expressivity and high, but incomplete, penetrance [Cervenka et al 1967, Janku et al 1980, Shprintzen et al 1980, Burdick et al 1985]. In the most current and extensive literature review of VWS [Burdick et al 1985], a citation list search and manual search of Index Medicus starting from 1965 revealed data on 864 affected individuals in 164 families reported since Demarquay [1845] first observed VWS. Based on these data, penetrance was estimated at 92% [Burdick et al 1985].
Lip pit phenotype. The penetrance of the lip pit phenotype is estimated at 86%.
### Nomenclature
The following terms were used in the original description of Van der Woude syndrome by Anne Van der Woude [1954], but are no longer used:
* Congenital pits of the lower lip
* Fistula labii inferioris congenital
* Congenital fistulae of the lower lip
Current nomenclature is "lip pits," "lip eminences," or more inclusively "lip abnormalities."
### Prevalence
Van der Woude syndrome. VWS represents the most common single-gene cause of cleft lip and cleft palate, accounting for about 2% of all individuals with CL+P [Cohen & Bankier 1991, Murray et al 1997] or roughly one in 35,000 to one in 100,000 in the European and Asian populations [Cervenka et al 1967, Rintala & Ranta 1981, Burdick 1986].
Popliteal pterygium syndrome. A prevalence of approximately one in 300,000 has been suggested [Froster-Iskenius 1990].
## Differential Diagnosis
Pits of the lower lip similar to those seen in VWS also occur in the following disorders:
* VWS2 (Van der Woude syndrome, locus 2) (OMIM 606713) is defined as VWS caused by a heterozygous pathogenic variant in GRHL3. Wong et al [2001] described a Finnish family in which ten of 11 affected family members had cleft palate (CP) and one had cleft lip and palate (CLP); only one of the 11 affected individuals clinically examined had lip pits. Two of the affected individuals had a "wave-like" lower lip in addition to CP. Although the authors suggested that this could be a novel finding of VWS, linkage to IRF6 at 1q32-q41 was excluded (multipoint LOD scores < -13.0 for markers across this region). The locus was subsequently mapped to a 30-cM region on the short arm of chromosome 1 in 1p32-p36 [Koillinen et al 2001]. Peyrard-Janvid et al [2014] identified a heterozygous pathogenic variant in GRHL3 in this Finnish family. Subsequently, they sequenced 44 more individuals with clinical features of VWS who lacked a pathogenic variant in IRF6 and found a pathogenic variant in seven of these families. Thus, pathogenic variants in GRHL3 appear to account for 17% of individuals with clinical features of VWS who lack a pathogenic variant in IRF6 and approximately 5% of all cases of VWS. In these eight families with VWS2, Peyrard-Janvid et al [2014] observed the full range of VWS-associated orofacial clefts and lip pits. However, affected individuals were more likely to have cleft palate, less likely to have cleft lip, and less likely to have lip pits.
* Bartsocas-Pappas syndrome (BPS) (also known as popliteal pterygium syndrome, lethal type) (OMIM 263650) is characterized by cutaneous webbing across one or more major joints, cleft lip and/or palate, syndactyly, genital hypoplasia, ankyloblepharon, syngnathia, and ectodermal defects including alopecia, absent eyelashes and eyebrows, and brittle nails. The diagnosis is based on clinical findings. BPS is autosomal recessive and caused by pathogenic variants in RIPK4 [Kalay et al 2012, Mitchell et al 2012].
* Kabuki syndrome (KS) (also known as Kabuki make-up syndrome or Niikawa syndrome) is characterized by typical facial features (elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild to moderate intellectual disability, and postnatal growth deficiency. Forty percent of individuals with Kabuki syndrome have a high-arched or cleft palate [Burke & Jones 1995]. Several individuals with KS who have lower-lip pits have been identified [Matsumura et al 1992, Franceschini et al 1993, Kokitsu-Nakata et al 1999, Makita et al 1999]. In particular, Makita et al [1999] reported a five-year-old Japanese girl with both the KS and VWS clinical phenotypes. No microdeletions or single nucleotide variants involving IRF6 were observed [Makita et al 1999, Kondo et al 2002]. The diagnosis is primarily established by clinical findings. KS is caused by pathogenic variants in KMT2D (formerly MLL2) or KDM6A.
* Branchiooculofacial syndrome (BOFS) is characterized by: branchial (cervical [90%] or infra- or supra-auricular [60%]) skin defects that range from barely perceptible thin skin or hair patch to erythematous "hemangiomatous" lesions to large weeping erosions; ocular anomalies that can include microphthalmia, anophthalmia, coloboma, and nasolacrimal duct stenosis/atresia; and facial anomalies that can include ocular hypertelorism or telecanthus, broad nasal tip, upslanted palpebral fissures, cleft lip or prominent philtral pillars that give the appearance of a repaired cleft lip (formerly called "pseudocleft lip") with or without cleft palate, upper lip pits and lower facial weakness (asymmetric crying face or partial 7th cranial nerve weakness). Malformed and prominent pinnae and hearing loss from inner ear and/or petrous bone anomalies are common. Intellect is usually normal. The diagnosis is based on clinical findings. TFAP2A is the only gene in which pathogenic variants are currently known to cause BOFS.
* Isolated CLP. Ranta & Rintala [1983] examined the lower lips of 397 children with CP, 518 with CL+P, and 1000 with no cleft phenotype. In addition to lip pits in these groups, 39.3% of CP, 0.8% of CL+P, and 0.7% of noncleft cases had conical elevations (CE) of the lower lip [Ranta & Rintala 1983]. The finding was interesting in that the familial occurrence of clefts among those in the CP group with CE (30%) was statistically higher than in those without them (20.7%). In addition, the incidence of hypodontia was significantly higher among 251 children with CP and CE (40%) than in those without them (25%) [Ranta et al 1983]. In all, 56% of children with CP had an associated hypodontia or CE phenotype. It is unknown how many of these may represent an IRF6-related disorder.
* Mixed clefting (cleft lip with or without cleft palate (CL±P) and CP only). The mixed clefting seen in IFR6-related disorders can also occur in MSX1-related disorders [van den Boogaard et al 2000], TP63-related disorders (e.g., ankyloblepharon-ectodermal defects-cleft lip/palate syndrome), FGFR1-related disorders (e.g., isolated gonadotropin-releasing hormone deficiency), 22q11.2 deletion syndrome, fetal alcohol syndrome [Shaw & Lammer 1999], and CHARGE syndrome.
Although lip pits are absent in these disorders, they lack sufficient additional features to exclude VWS without lip pits [van den Boogaard et al 2000, Dodé et al 2003, Jezewski et al 2003]. Thus, these disorders should be considered in evaluating any family in which multiple members have orofacial clefts.
* Ankyloblepharon (or eyelid synechiae) present at birth is seen occasionally in PPS. These may also be seen in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Rapp-Hodgkin syndrome (OMIM 129400), ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 1 (OMIM 129900), curly hair-ankyloblepharon-nail dysplasia syndrome (OMIM 214350), and trisomy 18.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with an IRF6-related disorder, the following evaluations are recommended if they have not already been completed:
* In individuals diagnosed with VWS: evaluation for the characteristic features of PPS: knee contractures with webbing behind the knee, genital anomalies, syndactyly of the toes, and the pyramidal skin-fold on the nail of the hallux. Based on the findings referral to the following specialists may be considered:
* Orthopedic surgery
* Urology
* Plastic surgery
* Feeding and hearing evaluation
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
Individuals with a cleft lip and/or palate should be evaluated and treated by a multidisciplinary team of specialists. The American Cleft Palate-Craniofacial Association [2009] has published parameters for evaluation and treatment of patients with cleft lip/palate or other craniofacial anomalies that can guide treatment of these patients. Click here for full text.
Management is supportive/symptomatic.
* Cleft lip. Management is surgical, dental, and orthodontic.
* Cleft palate. In addition to surgery, dentistry, and orthodontics, speech therapy and audiologic evaluation are usually needed. Otolaryngology evaluation is needed for management of middle ear effusions.
* Lip pits. Surgery may be indicated for cosmetic purposes or for lip function. The lip pits may be connected to mucous-secreting glands and may be excised for this.
* Eyelid and oral synechiae (ankyloblepharon and syngnathia, respectively) may require surgical excision.
* Syngnathia often requires emergent release due to feeding and respiratory concerns and may require tracheotomy.
* Popliteal pterygium. Management involves physical therapy and surgical and orthopedic intervention, as necessary.
* Syndactyly may require surgery.
* Abnormal genitalia may require surgery especially in the presence of cryptorchidism. The genital anomalies may result in infertility.
### Prevention of Secondary Complications
Timely treatment of otitis media secondary to eustachian tube dysfunction related to cleft palate is indicated to prevent secondary hearing loss. Some individuals may have pressure-equalizing tubes placed.
Evaluations by a speech-language pathologist can aid in determining if speech therapy or other interventions are appropriate for a child with secondary hearing loss.
### Surveillance
The following surveillance guidelines are adapted from the American Cleft Palate-Craniofacial Association [2009] parameters for evaluation and treatment of patients with cleft lip/palate or other craniofacial anomalies. Click here for full text.
Neonatal period and infancy
* Weekly assessment of nutritional intake and weight gain during the first month of life
* Otolaryngologic evaluation
* Audiologic evaluation
* Assessment of prelinguistic speech-language development
* Dental evaluation
* Consultation with other specialists as applicable
Longitudinal evaluation and treatment
* Audiologic evaluation as soon as possible in a neonate and again at the time of an infant's first visit to a cleft clinic. The timing and frequency of follow-up evaluations should be based on the individual's history of ear disease or hearing loss. Evaluations should be carried out routinely through adolescence.
* Dental evaluation at an infant's first visit to the cleft clinic and within six months of the first tooth erupting, no later than age 12 months. Routine dental evaluation should continue throughout life.
* Otolaryngologic evaluation at an infant's first visit to the cleft clinic and within the first six months of life. These evaluations should continue throughout adolescence.
* Speech-language pathology evaluation at an infant's first visit to the cleft clinic to provide parents with information about speech and language development. By age six months, infants should be seen for assessment of prelinguistic speech-language development. During the first two years of life, children should be evaluated at least twice, and then at least annually until age six years. After age six years, evaluations should be at least annually until after adenoid involution, and then at least every two years until dental and skeletal maturity.
* Consultation with other specialists as applicable
### Evaluation of Relatives at Risk
Offspring and/or sibs of an affected individual should be clinically examined for evidence of cleft palate including submucous cleft, lip abnormalities (pits or mounds), and the pyramidal skin-fold on the nail of the hallux, given the variable expressivity and incomplete penetrance of VWS and PPS.
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
IRF6-Related Disorders
|
None
| 25,106 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK1407/
| 2021-01-18T21:18:04 |
{"synonyms": []}
|
## Description
Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding (Kuzniecky et al., 1993).
PMG may be a feature of other conditions as well (see, e.g., 300643).
Clinical Features
Kuzniecky et al. (1993) studied 31 patients with a congenital neurologic syndrome characterized by pseudobulbar palsy, cognitive deficits, and bilateral perisylvian abnormalities on imaging studies. All patients had diplegia of the facial, pharyngeal, and masticatory muscles, of variable severity. Some patients had slight dysarthria, while others were unable to speak. Mental retardation, ranging from mild to severe, was present in 85% of patients. Epilepsy was present in 27 (87%) and commonly consisted of atypical absence, atonic/tonic, tonic-clonic seizures, and, less frequently, partial attacks. Seizures were poorly controlled in 55%. Magnetic resonance imaging (MRI) showed bilateral perisylvian cortical malformations consistent with polymicrogyria, confirmed at necropsy. Improvement in the seizures accompanied the division of the corpus callosum in several patients. There was no instance of parental consanguinity. Epilepsy was present in the sib of 1 patient. In 2 families the syndrome occurred in more than 1 person; in 1 family monozygotic male twins were both affected (Graff-Radford et al. (1986)), and in another family a brother and sister were affected and a deceased maternal uncle was probably affected. Present in all patients and considered essential criteria were oropharyngoglossal dysfunction, dysarthria, and bilateral perisylvian malformations on imaging.
Hattori et al. (1996) reported the first case in a Japanese child, a 9-year-old boy. He had oropharyngoglossal dysfunction and severe dysarthria. MRI of the brain disclosed bilateral perisylvian malformations suggesting polymicrogyria. He also showed mental retardation, epilepsy, and poor motor skills. The clinical manifestations of pseudobulbar palsy, congenital facio-pharyngo-glosso-masticatory diplegia represented developmental Foix-Chavany-Marie syndrome, or bilateral anterior opercular syndrome, resulting from bilateral opercular lesions.
Jansen and Andermann (2005) reviewed the clinical and radiologic features as well as the genetics of the various forms of polymicrogyria.
Brandao-Almeida et al. (2008) reported the clinical features of 31 patients with CBPS, including 22 patients from 6 families. Fourteen patients had bilateral involvement of the sylvian fissure cortex, whereas 15 had bilateral posterior perisylvian polymicrogyria. One patient had normal imaging, but had dyslexia and fathered 2 children with dyslexia and PMG. Six patients with diffuse PMG had generalized tonic-clonic seizures, and 17 patients, including 13 with diffuse PMG, had pseudobulbar signs. Twenty-five patients had delayed language development, 10 with dyslexia. Most patients did not have global cognitive deficits. Inheritance patterns in familial cases were heterogeneous. Adverse prenatal events were associated with nonfamilial cases.
Clark and Neville (2008) noted that there is significant phenotypic overlap between PMG and Worster-Drought syndrome (185480) and that the disorders may be part of a phenotypic spectrum.
Pathogenesis
Nongenetic causes of PMG are recognized, including intrauterine cytomegalovirus infection (Barkovich and Lindan, 1994) and placental perfusion failure often related to twinning (Baker et al., 1996). In addition, a severe and unlayered form of PMG is a prominent feature of Zellweger syndrome (see 214100).
Inheritance
Familial recurrence of PMG in a pattern consistent with X-linked inheritance was reported by Borgatti et al. (1999) and Guerreiro et al. (2000). In some families, only males have PMG, whereas, in others, individuals of both sexes are affected but with more severe expression in males. Further support for an X-linked locus for PMG came from a study group of 220 patients with PMG referenced by Villard et al. (2002) in which 60% were males and in which males were generally more severely affected than females.
Mapping
Villard et al. (2002) investigated 5 families containing a total of 12 severely affected males and 1 mildly affected female. They demonstrated linkage to a region at the distal end of Xq between marker DXS8103 and Xqter, i.e., in the Xq28 region.
### Genetic Heterogeneity
Santos et al. (2008) reported a family in which 8 members, including 5 males and 3 females, had bilateral polymicrogyria inherited in an X-linked dominant pattern. Overall, the males showed a more severe pattern of brain involvement both on MRI scan and in clinical phenotype compared to the females. Linkage analysis yielded a maximum 2-point lod score of 2.06 at markers DXS1205 and DXS1227 on chromosome Xq27.2-q27.3. Multipoint lod scores delineated a 13-cM candidate region between markers DXS1205 and DXS8043. All 8 patients with MRI findings had the affected haplotype, but neurologic and language evaluations were variable. In addition, 1 asymptomatic individual carried at least part of the affected haplotype, suggesting incomplete penetrance. Santos et al. (2008) noted that this candidate locus was centromeric to and did not overlap with that reported by Villard et al. (2002), suggesting genetic heterogeneity.
INHERITANCE \- X-linked dominant NEUROLOGIC Central Nervous System \- Pseudobulbar palsy \- Cognitive deficits \- Facial, pharyngeal, and masticatory muscle diplegia \- Dysarthria \- Speech and language disorders \- Dyslexia \- Atypical absence, atonic/tonic, or tonic-clonic seizures \- Polymicrogyria \- Bilateral perisylvian cortical malformations on MRI MISCELLANEOUS \- Extremely variable phenotype ▲ 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
|
POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED
|
c1845668
| 25,107 |
omim
|
https://www.omim.org/entry/300388
| 2019-09-22T16:20:24 |
{"mesh": ["C536658"], "omim": ["300388"], "orphanet": ["268940", "98889"], "synonyms": ["PMGX", "BPP", "Alternative titles", "PERISYLVIAN SYNDROME, CONGENITAL BILATERAL"], "genereviews": ["NBK1329"]}
|
A number sign (#) is used with this entry because of evidence that inclusion body myopathy with Paget disease and frontotemporal dementia-2 (IBMPFD2) is caused by heterozygous mutation in the HNRNPA2B1 (600124) gene on chromosome 7p15. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of IBMPFD, see IBMPFD1 (167320).
Clinical Features
Waggoner et al. (2002) reported a family in which autosomal dominant early-onset Paget disease of bone was associated with a scapuloperoneal type of muscular dystrophy (SPMD). Muscle histology was nonspecific. CPK levels were elevated in active forms of the disorder. PDB in this family presented primarily in the long bones and progressed to the spine and other bones.
Kim et al. (2013) studied a family (family 1, previously studied by Waggoner et al. (2002)) who manifested dominantly inherited degeneration affecting muscle, bone, brain, and motor neurons that was clinically indistinguishable from IBMPFD caused by mutation in the VCP gene (601023). The father in this pedigree had behavioral changes, weakness, muscle atrophy, and progressive skeletal abnormalities. At autopsy he was diagnosed with frontotemporal dementia, inclusion body myopathy, and Paget disease of the bone. He had 8 children, 4 of whom were affected. All had myopathy and Paget disease of the bone, with onset of slowly progressive weakness and skeletal abnormalities in their twenties. Two had cognitive impairment and 2 had motor neuron dysfunction. Muscle biopsies from one of the offspring (II5) manifesting disease in all organ systems showed atrophic fibers, central nuclei, and rimmed vacuoles characteristic of inclusion body myopathy. Whereas in normal muscle HNRNPA2B1 expression is exclusively nuclear, analysis of muscle tissue from this patient showed that the HNRNPA2B1 cleared from many nuclei and accumulated in cytoplasmic inclusions in approximately 10% of fibers. This patient also showed TDP43 (605078) pathology consisting of nuclear clearance and cytoplasmic inclusions, consistent with observations in VCP-related and sporadic inclusion body myopathy.
Molecular Genetics
By molecular analyses in a family with Paget disease of bone and progressive degeneration of muscle, brain, and motor neurons, Waggoner et al. (2002) excluded all known loci for PDB, SPMD, facioscapulohumeral muscular dystrophy, ALS, Bethlem myopathy, limb-girdle muscular dystrophy, and the critical region for LGMD or hereditary inclusion body myopathy/PDB on chromosome 9p21.1-q12 (IBMPFD1; 167320). In the family described by Waggoner et al. (2002) (family 1) with inclusion body myopathy, Paget disease of the bone, and frontotemporal dementia, Kim et al. (2013) excluded mutation in the VCP gene. By exome sequencing and linkage analysis, Kim et al. (2013) identified an aspartic acid-to-valine substitution at codon 290 of HNRNPA2B1 (600124.0001) that cosegregated with disease. The evolutionarily conserved aspartic acid at this position is centered in a motif conserved in multiple human paralogs of the HNRNPA/B family.
By sequencing coding exons of the HNRNPA2B1 gene, Le Ber et al. (2014) failed to identify pathogenic mutations in a cohort of 17 unrelated French patients with sporadic or familial occurrence of multiple system proteinopathy manifest as frontotemporal lobar degeneration (FTLD) and/or amyotrophic lateral sclerosis (ALS) that segregated with Paget disease of bone (PDB), and/or inclusion body myositis (IBM). No mutations were found in 60 probands with FTLD or FTLD/ALS. By sequencing the prion-like domain of the HNRNPA2B1 gene, Seelen et al. (2014) also failed to identify any nonsynonymous mutations in 135 patients with familial ALS, 1,084 patients with sporadic ALS, 68 patients with familial FTLD, 74 patients with sporadic FTLD, and 31 patients with sporadic IBM. A splice site mutation (c.695A-G) was found in 1 patient with familial FTD, but functional studies and segregation analysis were not performed. All patients were from the Netherlands. The findings of both studies suggested that mutations in HNRNPA2B1 are a very rare cause of this spectrum of diseases.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2
|
c1833662
| 25,108 |
omim
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https://www.omim.org/entry/615422
| 2019-09-22T15:52:12 |
{"doid": ["0050881"], "mesh": ["C563476"], "omim": ["615422"], "orphanet": ["52430"], "synonyms": ["Alternative titles", "MULTISYSTEM PROTEINOPATHY 2"], "genereviews": ["NBK1476"]}
|
Disorder characterized by deposits of hydroxyapatite in any tendon of the body
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Calcific tendinitis
Other namescalcific/calcifying/calcified/calcareous tendinitis/tendonitis/tendinopathy, tendinosis calcarea, hydroxyapatite deposition disease (HADD), calcific periarthritis
A plain X ray of the shoulder showing calcific tendinitis
SpecialtyRheumatology
SymptomsPain of the shoulder exacerbated by overhead activities
DurationSelf-limiting, typically resolves in 6-9 months
Risk factorsDiabetes, hypothyroidism
Diagnostic methodX-ray
TreatmentPhysiotherapy, sub-acromial injection with steroids, extracorporeal shockwave therapy, surgical excision
MedicationNSAIDs, analgesics
Calcific tendinitis is a form of tendinitis, a disorder characterized by deposits of hydroxyapatite (a crystalline calcium phosphate) in any tendon of the body, but most commonly in the tendons of the rotator cuff (shoulder), causing pain and inflammation. The condition is related to and may cause adhesive capsulitis ("frozen shoulder").
Calcific tendinitis most often occurs in females aged 30 to 60 years and occurs in 3–10% of the general population.[1][2] Calcifications are usually located within the supraspinatus tendon (80% of cases), followed by the infraspinatus (15% of cases) and subscapularis (5% of cases) tendons, but can be present in any tendon,[3] and they are present in 5% or more of asymptomatic shoulders in healthy adults.[4]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 4.1 Medications
* 4.2 Physical therapy
* 4.3 Ultrasound guided percutaneous irrigation
* 4.4 Extracorporeal shock wave therapy
* 4.5 Surgery
* 4.6 Other
* 5 References
* 6 External links
## Signs and symptoms[edit]
Around 50% of individuals with calcific tendinitis have symptoms. Symptoms include pain or weakness in the shoulder and often leads to decreased active range of motion. If the condition is chronic, muscle atrophy and scapular dyskinesia can occur.[5]
Pain is often aggravated by elevation of the arm above shoulder level or by lying on the shoulder. Pain may awaken the patient from sleep. Other complaints may be stiffness, snapping, catching, or weakness of the shoulder.
## Cause[edit]
Three main theories have emerged in an attempt to explain the mechanisms involved in tendon calcification.[6] The first theory is the theory of reactive calcification and involves an active cell-mediated process, usually followed by spontaneous resorption by phagocytosing multinucleated cells showing a typical osteoclast phenotype. The second theory suggests that calcium deposits are formed by a process resembling endochondral ossification. The mechanism involves regional hypoxia, which transforms tenocytes into chondrocytes. The third theory involves ectopic bone formation from metaplasia of mesenchymal stem cells normally present in tendon tissue into osteogenic cells. As no single theory is satisfactory to explain all cases, calcific tendinopathy is currently believed to be multifactorial.[6]
Risk factors that increase the chance of developing calcific tendinitis include; hormonal disorders, like diabetes and hypothyroidism, autoimmune disorders, like rheumatoid arthritis, and metabolic disorders that also cause kidney stones, gallstones, and gout. Occupations that consist of repetitive overhead lifting, such as athletes or construction workers, do not seem to significantly increase the likelihood of developing calcific tendinitis.[5]
## Diagnosis[edit]
An x-ray showing calcific deposits in the area of the tendons of the rotator cuff muscles
The calcific deposits are visible on X-ray as discrete lumps or cloudy areas. The deposits look cloudy on X-ray if they are in the process of reabsorption, and this is also when they cause the most pain. The deposits are crystalline when in their resting phase and like toothpaste in the reabsorptive phase. However, poor correlation exists between the appearance of a calcific deposit on plain X-rays and its consistency on needling. Ultrasound is also useful to depict calcific deposits and closely correlates with the stage of disease.[6]
## Treatment[edit]
When treating calcific tendinitis, the focus is initially upon symptom relief including the use of oral anti-inflammatories, analgesics, glucocorticoid injections, and physical therapy. Aspiration can be implemented[7] to decrease the amount of calcium deposits in the tissue, as well as to reduce the pain and improve function.[8] Usually it improves without specific treatment.[9] Treatments of calcific tendinitis may include physiotherapy, nonsteroidal anti-inflammatory drugs (NSAIDs), or corticosteroid injections.[9] If these do not work, extracorporeal shockwave therapy or surgery may be considered.[9]
Research has found conservative treatment consisting of Physical Therapy, NSAIDS, and steroid injections to be successful in managing 60-80% of cases, such that symptoms did not continue after 6 months. However, it is possible the high success rate is due to the natural progression of the disease.[5]
### Medications[edit]
Analgesics and NSAIDs are useful to a limited extent. They can be used to relieve pain for 7-14 days, but can cause gastrointestinal, cardiovascular, and renal complications if NSAIDS are used long term.[5] Corticosteroid injections may be useful when the shoulder is acutely inflamed but otherwise are not generally useful except for the temporary relief of pain.
### Physical therapy[edit]
Physical therapy combines stretching and strengthening of the area to reduce pain and work on range of motion and function. Physical therapy can further work to reduce symptoms with iontophoresis, deep transverse friction massage, laser therapy, or hyperthermia. [5]
Electroanalgesia, ice therapy, and heat offer symptomatic relief. The benefit of ultrasound in calcific tendinitis is debated; most studies are negative but a study by Ebenbichler et al. (1999)[10] showed resolution of deposits and clinical improvement. Improving the biomechanics of the shoulder will reduce the tension on the fault muscles allowing a decrease in symptoms. Improved biomechanics are thought to reduce the amount of calcification that occurs especially in the case of the supraspinatus where it can be caused from repetitive compression against the acromion.
### Ultrasound guided percutaneous irrigation[edit]
Ultrasound guided percutaneous irrigation (US-PICT) uses sonographic guidance to aspirate and remove calcium deposits while also increasing the vascular supply by causing microtrauma in the area. The technique is followed by a steroid injection to control pain and inflammation. US-PICT removes much of the calcium deposit, and the newly increased vasculature helps to reabsorb whatever calcium is left over. For both short term and long term management, US-PICT has been shown to be 90% successful one year post treatment, and has shown to reduce pain by around 55%. Complications are rare, but most common is bursitis.[5]
### Extracorporeal shock wave therapy[edit]
In those with calcific tendinitis of the shoulder, high energy extracorporeal shockwave therapy may be useful;[11] it is not useful in other types of tendinitis.[12]
Extra corporeal shockwave therapy (ESWT) can reduce the calcium deposits significantly, thus contributing to decreased pain and increased function. There are different kinds of ESWT. High-energy focused extra corporeal shockwave therapy has been shown to yield the most results when compared with other forms of electrotherapy. Low-energy extra corporeal shockwave therapy, ultrasound and transcutaneous electrical nerve stimulation (TENS) are less likely to break apart the calcium deposits. However, ESWT requires multiple sessions to treat calcific tendinitis and may be quite costly in some countries. [13]
### Surgery[edit]
Surgery is only recommended once 6 months of conservative, non-operative treatment has failed to reduce symptoms. Surgery is arthroscopic and involves calcification removal with or without acromioplasty of the shoulder.[14] Additionally, debate remains over whether a complete removal of the deposits is necessary, or if equal pain relief can be obtained from a partial removal of calcium deposits.[5]
Removing the deposits either with open shoulder surgery or arthroscopic surgery are both difficult operations, but with high success rates (around 90%). About 10% require re-operation. If the deposit is large, then frequently the patient will require a rotator cuff repair to fix the defect left in the tendon when the deposit is removed or to reattach the tendon to the bone if the deposit was at the tendon insertion into the bone.
### Other[edit]
In studies, acetic acid iontophoresis combined with ultrasound provided no better clinical results or shrinkage of the calcific deposits than did no treatment. Platelet-rich plasma (PRP) is blood plasma that has been enriched with platelets. It has not been well studied in calcific tendinitis.[9]
Under local anesthetic, the calcific deposits can be mechanically broken up by puncturing them repeatedly with a needle and then aspirating the calcific material with the help of a sluice of saline. Ultrasound can be used to help localize the deposit and to visualize the needle entering the deposit in real time. Available evidence does not suggest a benefit over usual treatments.[15]
## References[edit]
1. ^ (2020). .In: Achar, Suraj A. & Taylor, Kenneth S. (eds.) , 5-Minute Sports Medicine Consult, The. 3rd Edition. Two Commerce Square, 2001 Market Street, Philadelphia, PA 19103 USA:Lippincott Williams & Wilkins; Retrieved from: Books@Ovid database.
2. ^ "Evaluation and Management of Calcific Tendinitis". Clinical Advisor. 20 December 2016. Retrieved 12 March 2018.
3. ^ Schneider D, Hirsch M. Acute calcific tendonitis of dorsal interosseous muscles of the hand: uncommon site of a frequent disease. https://doi.org/10.4081/reumatismo.2017.950
4. ^ Serafini, Giovanni; Sconfienza, Luca M.; Lacelli, Francesca; Silvestri, Enzo; Aliprandi, Alberto; Sardanelli, Francesco (July 2009). "Rotator Cuff Calcific Tendonitis: Short-term and 10-year Outcomes after Two-Needle US-guided Percutaneous Treatment— Nonrandomized Controlled Trial". Radiology. 252 (1): 157–164. doi:10.1148/radiol.2521081816. PMID 19561254.
5. ^ a b c d e f g Bechay, Joseph; Lawrence, Cassandra; Namdari, Surena (2020-01-01). "Calcific tendinopathy of the rotator cuff: a review of operative versus nonoperative management". The Physician and Sportsmedicine. 0 (3): 241–246. doi:10.1080/00913847.2019.1710617. ISSN 0091-3847. PMID 31893972. S2CID 209539198.
6. ^ a b c Arend CF. Ultrasound of the Shoulder. Master Medical Books, 2013. Free chapter on US evaluation of calcific rotator cuff tendinopathy available at ShoulderUS.com
7. ^ (2020). .In: Achar, Suraj A. & Taylor, Kenneth S. (eds.) , 5-Minute Sports Medicine Consult, The. 3rd Edition. Two Commerce Square, 2001 Market Street, Philadelphia, PA 19103 USA:Lippincott Williams & Wilkins; Retrieved from: Books@Ovid database.
8. ^ Wu, Yi-Cheng; Tsai, Wen-Chung; Tu, Yu-Kung; Yu, Tung-Yang (2017-08-01). "Comparative Effectiveness of Nonoperative Treatments for Chronic Calcific Tendinitis of the Shoulder: A Systematic Review and Network Meta-Analysis of Randomized Controlled Trials". Archives of Physical Medicine and Rehabilitation. 98 (8): 1678–1692.e6. doi:10.1016/j.apmr.2017.02.030. ISSN 0003-9993. PMID 28400182.
9. ^ a b c d Carcia, CR; Scibek, JS (March 2013). "Causation and management of calcific tendonitis and periarthritis". Current Opinion in Rheumatology. 25 (2): 204–9. doi:10.1097/bor.0b013e32835d4e85. PMID 23370373. S2CID 36809845.
10. ^ Ebenbichler GR, Erdogmus CB, Resch KL, et al. (May 1999). "Ultrasound therapy for calcific tendinitis of the shoulder". N. Engl. J. Med. 340 (20): 1533–8. doi:10.1056/NEJM199905203402002. PMID 10332014.
11. ^ Saithna, Adnan; Jenkinson, Emma; Boer, Ronald; Costa, Matt L; Drew, Steve (October 2009). "Is extracorporeal shockwave therapy for calcifying tendinitis of the rotator cuff associated with a significant improvement in the Constant-Murley score? A systematic review". Current Orthopaedic Practice. 20 (5): 566–571. doi:10.1097/BCO.0b013e3181a5e53d. ISSN 1940-7041. S2CID 71440030.
12. ^ Bannuru, RR; Flavin, NE; Vaysbrot, E; Harvey, W; McAlindon, T (Apr 15, 2014). "High-energy extracorporeal shock-wave therapy for treating chronic calcific tendinitis of the shoulder: a systematic review". Annals of Internal Medicine. 160 (8): 542–9. doi:10.7326/m13-1982. PMID 24733195. S2CID 6164436.
13. ^ Wu, Yi-Cheng; Tsai, Wen-Chung; Tu, Yu-Kung; Yu, Tung-Yang (2017-08-01). "Comparative Effectiveness of Nonoperative Treatments for Chronic Calcific Tendinitis of the Shoulder: A Systematic Review and Network Meta-Analysis of Randomized Controlled Trials". Archives of Physical Medicine and Rehabilitation. 98 (8): 1678–1692.e6. doi:10.1016/j.apmr.2017.02.030. ISSN 0003-9993. PMID 28400182.
14. ^ (2020). .In: Achar, Suraj A. & Taylor, Kenneth S. (eds.) , 5-Minute Sports Medicine Consult, The. 3rd Edition. Two Commerce Square, 2001 Market Street, Philadelphia, PA 19103 USA:Lippincott Williams & Wilkins; Retrieved from: Books@Ovid database.
15. ^ Vignesh, KN; McDowall, A; Simunovic, N; Bhandari, M; Choudur, HN (January 2015). "Efficacy of ultrasound-guided percutaneous needle treatment of calcific tendinitis". AJR. American Journal of Roentgenology. 204 (1): 148–52. doi:10.2214/ajr.13.11935. PMID 25539250.
## External links[edit]
* eMedicine on Calcific Tendonitis
* Extracorporeal shock wave therapy (subscription required)
Classification
D
* ICD-10: M65.2, M75.3
* ICD-9-CM: 727.82
* v
* t
* e
Soft tissue disorders
Capsular joint
Synoviopathy
* Synovitis/Tenosynovitis
* Calcific tendinitis
* Stenosing tenosynovitis
* Trigger finger
* De Quervain syndrome
* Transient synovitis
* Ganglion cyst
* osteochondromatosis
* Synovial osteochondromatosis
* Plica syndrome
* villonodular synovitis
* Giant-cell tumor of the tendon sheath
Bursopathy
* Bursitis
* Olecranon
* Prepatellar
* Trochanteric
* Subacromial
* Achilles
* Retrocalcaneal
* Ischial
* Iliopsoas
* Synovial cyst
* Baker's cyst
* Calcific bursitis
Noncapsular joint
Symptoms
* Ligamentous laxity
* Hypermobility
Enthesopathy/Enthesitis/Tendinopathy
upper limb
* Adhesive capsulitis of shoulder
* Impingement syndrome
* Rotator cuff tear
* Golfer's elbow
* Tennis elbow
lower limb
* Iliotibial band syndrome
* Patellar tendinitis
* Achilles tendinitis
* Calcaneal spur
* Metatarsalgia
* Bone spur
other/general:
* Tendinitis/Tendinosis
Nonjoint
Fasciopathy
* Fasciitis: Plantar
* Nodular
* Necrotizing
* Eosinophilic
Fibromatosis/contracture
* Dupuytren's contracture
* Plantar fibromatosis
* Aggressive fibromatosis
* Knuckle pads
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
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Calcific tendinitis
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c0158303
| 25,109 |
wikipedia
|
https://en.wikipedia.org/wiki/Calcific_tendinitis
| 2021-01-18T18:56:58 |
{"umls": ["C0158303"], "wikidata": ["Q1522871"]}
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Mastectomy specimen containing a very large cancer of the breast (in this case, an invasive ductal carcinoma).
The relationship between alcohol and breast cancer is clear: drinking alcoholic beverages, including wine, beer, or liquor, is a risk factor for breast cancer, as well as some other forms of cancer.[1][2][3] Drinking alcohol causes more than 100,000 cases of breast cancer worldwide every year.[3]
The International Agency for Research on Cancer has declared that there is sufficient scientific evidence to classify alcoholic beverages a Group 1 carcinogen that causes breast cancer in women.[2] Group 1 carcinogens are the substances with the clearest scientific evidence that they cause cancer, such as smoking tobacco.
A woman drinking an average of two units of alcohol per day has 8% higher risk of developing breast cancer than a woman who drinks an average of one unit of alcohol per day.[4] Even light consumption of alcohol – one to three drinks per week – increases the risk of breast cancer.[3]
Heavy drinkers are also more likely to die from breast cancer than non-drinkers and light drinkers.[3][5] Also, the more alcohol a woman consumes, the more likely she is to be diagnosed with a recurrence after initial treatment.[5]
## Contents
* 1 Mechanism
* 2 In daughters of drinking mothers
* 3 Light and moderate drinking
* 4 Recurrence
* 5 In men
* 6 Epidemiology
* 7 References
* 8 External links
## Mechanism[edit]
The mechanisms of increased breast cancer risk by alcohol are not clear, and may be:
* Increased estrogen and androgen levels[6]
* Enhanced mammary gland susceptibility to carcinogenics[6]
* Increased mammary DNA damage[6]
* Greater metastatic potential of breast cancer cells[6]
Their magnitude likely depends on the amount of alcohol consumed.[6]
Susceptibility to the breast cancer risk of alcohol may also be increased by other dietary factors, (e.g. folate deficiency), lifestyle habits (including use of hormone replacement therapy), or biological characteristics (e.g. as hormone receptor expression in tumor cells).[6]
## In daughters of drinking mothers[edit]
Studies suggest that drinking alcohol during pregnancy may affect the likelihood of breast cancer in daughters. "For women who are pregnant, ingestion of alcohol, even in moderation, may lead to elevated circulating oestradiol levels, either through a reduction of melatonin or some other mechanism. This may then affect the developing mammary tissue such that the lifetime risk of breast cancer is raised in their daughters."[7]
## Light and moderate drinking[edit]
Light drinking is one to three alcoholic drinks per week, and moderate drinking is about one drink per day. Both light and moderate drinking is associated with a higher risk of being diagnosed with breast cancer.[3][8] However, the increased risk caused by light drinking is small compared to heavy drinking.
## Recurrence[edit]
Drinking or not drinking alcohol does not solely determine whether breast cancer will recur after treatment.[5] However, the more a woman drinks, the more likely the cancer is to recur.[5]
## In men[edit]
In men, breast cancer is rare, with an incidence of fewer than one case per 100,000 men.[9] Population studies have returned mixed results about excessive consumption of alcohol as a risk factor. One study suggests that alcohol consumption may increase risk at a rate of 16% per 10g daily alcohol consumption.[10] Others have shown no effect at all, though these studies had small populations of alcoholics.[11]
## Epidemiology[edit]
Worldwide, alcohol consumption causes approximately 144,000 women to be diagnosed with breast cancer each year.[3] Approximately 38,000 women die from alcohol-induced breast cancer each year.[3] About 80% of these women were heavy or moderate drinkers.[3]
## References[edit]
1. ^ Hayes, J.; Richardson, A.; Frampton, C. (November 2013). "Population attributable risks for modifiable lifestyle factors and breast cancer in New Zealand women". Internal Medicine Journal. 43 (11): 1198–1204. doi:10.1111/imj.12256. ISSN 1445-5994. PMID 23910051. S2CID 23237732.
2. ^ a b Alcohol consumption and ethyl carbamate International Agency for Research on Cancer Working Group on the Evaluation of Carcinogenic Risks to Humans (2007: Lyon, France) ISBN 9789283212966
3. ^ a b c d e f g h Shield, Kevin D.; Soerjomataram, Isabelle; Rehm, Jürgen (June 2016). "Alcohol Use and Breast Cancer: A Critical Review". Alcoholism, Clinical and Experimental Research. 40 (6): 1166–1181. doi:10.1111/acer.13071. ISSN 1530-0277. PMID 27130687.
4. ^ Non-Technical Summary Archived 24 July 2006 at the Wayback Machine Committee on Carcinogenicity of Chemicals in Food Consumer Products and the Environment (COC)
5. ^ a b c d Gou, YJ; Xie, DX; Yang, KH; Liu, YL; Zhang, JH; Li, B; He, XD (2013). "Alcohol Consumption and Breast Cancer Survival: A Meta-analysis of Cohort Studies". Asian Pacific Journal of Cancer Prevention. 14 (8): 4785–90. doi:10.7314/APJCP.2013.14.8.4785. PMID 24083744. "Although our meta-analysis showed alcohol drinking was not associated with increased breast cancer mortality and recurrence, there seemed to be a dose-response relationship of alcohol consumption with breast cancer mortality and recurrence and alcohol consumption of >20 g/d was associated with increased breast cancer mortality."
6. ^ a b c d e f Singletary KW, Gapstur SM (2001). "Alcohol and breast cancer: review of epidemiologic and experimental evidence and potential mechanisms". JAMA. 286 (17): 2143–51. doi:10.1001/jama.286.17.2143. PMID 11694156.
7. ^ Stevens RG, Hilakivi-Clarke L (2001). "Alcohol exposure in utero and breast cancer risk later in life". Alcohol and Alcoholism. 36 (3): 276–7. doi:10.1093/alcalc/36.3.276. PMID 11373268.
8. ^ Zhang SM, Lee IM, Manson JE, Cook NR, Willett WC, Buring JE (March 2007). "Alcohol consumption and breast cancer risk in the Women's Health Study". Am J Epidemiol. 165 (6): 667–76. doi:10.1093/aje/kwk054. PMID 17204515.
9. ^ Male Breast Cancer
10. ^ Guénel, P.; Cyr, D.; Sabroe, S.; Lynge, E.; Merletti, F.; Ahrens, W.; Baumgardt-Elms, C.; Ménégoz, F.; Olsson, H.; Paulsen, S.; Simonato, L.; Wingren, G. (August 2004). "Alcohol drinking may increase risk of breast cancer in men: a European population-based case-control study". Cancer Causes & Control. 15 (6): 571–580. doi:10.1023/B:CACO.0000036154.18162.43. ISSN 0957-5243. PMID 15280636. S2CID 23750821.
11. ^ Brinton, A.; Richesson, A.; Gierach, L.; Lacey Jr, R.; Park, Y.; Hollenbeck, R.; Schatzkin, A. (October 2008). "Prospective evaluation of risk factors for male breast cancer". Journal of the National Cancer Institute. 100 (20): 1477–1481. doi:10.1093/jnci/djn329. ISSN 0027-8874. PMC 2720728. PMID 18840816.
## External links[edit]
* UK: Committee on Carcinogenicity of Chemicals in Food, Consumer Products Consumption of alcoholic beverages and risk of breast cancer
* UK: Committee on Carcinogenicity of Chemicals in Food, Consumer Products Evidence for association between consumption of alcoholic beverages and breast cancer
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Alcohol and breast cancer
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None
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https://en.wikipedia.org/wiki/Alcohol_and_breast_cancer
| 2021-01-18T18:44:21 |
{"wikidata": ["Q4713249"]}
|
Wolff–Parkinson–White syndrome
Other namesWPW pattern, Ventricular pre-excitation with arrhythmia, auriculoventricular accessory pathway syndrome[1][2]
A characteristic "delta wave" (arrow) seen in a person with Wolff–Parkinson–White syndrome. Note the short PR interval.
SpecialtyCardiology
SymptomsAbnormally fast heartbeat, palpitations, shortness of breath, lightheadedness, loss of consciousness[1][2]
ComplicationsCardiomyopathy, stroke, sudden cardiac death[2]
Usual onsetBirth[1]
CausesAccessory pathway in the heart[1]
Diagnostic methodElectrocardiogram shows a short PR interval and a wide QRS complex from a delta wave[3]
TreatmentWatchful waiting, medications, radiofrequency catheter ablation[4][5]
PrognosisWithout symptoms 0.5% (children), 0.1% (adults) risk of death per year[5]
Frequency0.2%[1]
Wolff–Parkinson–White syndrome (WPWS) is a disorder due to a specific type of problem with the electrical system of the heart which has resulted in symptoms.[2][3] About 40% of people with the electrical problem never develop symptoms.[5] Symptoms can include an abnormally fast heartbeat, palpitations, shortness of breath, lightheadedness, or syncope.[1] Rarely, cardiac arrest may occur.[1] The most common type of irregular heartbeat that occurs is known as paroxysmal supraventricular tachycardia.[1]
The cause of WPW is typically unknown.[2] A small number of cases are due to a mutation of the PRKAG2 gene which may be inherited from a person's parents in an autosomal dominant fashion.[2] The underlying mechanism involves an accessory electrical conduction pathway between the atria and the ventricles.[1] It is associated with other conditions such as Ebstein anomaly and hypokalemic periodic paralysis.[1] Diagnosis is typically when an electrocardiogram (ECG) show a short PR interval and a delta wave.[3] It is a type of pre-excitation syndrome.[3]
WPW syndrome is treated with either medications or radiofrequency catheter ablation.[4] It affects between 0.1 and 0.3% in the population.[1] The risk of death in those without symptoms is about 0.5% per year in children and 0.1% per year in adults.[5] In those without symptoms ongoing observation may be reasonable.[5] In those with WPW complicated by atrial fibrillation, cardioversion or the medication procainamide may be used.[6] The condition is named after Louis Wolff, John Parkinson, and Paul Dudley White who described the ECG findings in 1930.[3]
## Contents
* 1 Signs and symptoms
* 2 Pathophysiology
* 2.1 Bundle of Kent
* 3 Diagnosis
* 3.1 Risk stratification
* 4 Treatment
* 4.1 Medications
* 4.2 Radiofrequency catheter ablation
* 5 History
* 6 Notable cases
* 7 See also
* 8 References
* 9 External links
## Signs and symptoms[edit]
People with WPW are usually asymptomatic when not having a fast heart rate. However, individuals may experience palpitations, dizziness, shortness of breath, or infrequently syncope (fainting or near fainting) during episodes of supraventricular tachycardia. WPW is also associated with a very small risk of sudden death due to more dangerous heart rhythm disturbances.[7]
## Pathophysiology[edit]
Graphic representation of the electrical conduction system of the human heart
Transmission of a cardiac action potential through the conduction system of the normal human heart
Electrical activity in the normal human heart begins when a cardiac action potential arises in the sinoatrial (SA) node, which is located in the right atrium. From there, the electrical stimulus is transmitted via internodal pathways to the atrioventricular (AV) node. After a brief delay at the AV node, the stimulus travels through the bundle of His to the left and right bundle branches and then to the Purkinje fibers and the endocardium at the apex of the heart, then finally to the ventricular myocardium.[citation needed]
The AV node serves an important function as a "gatekeeper", limiting the electrical activity that reaches the ventricles. In situations where the atria generate excessively rapid electrical activity (such as atrial fibrillation or atrial flutter), the AV node limits the number of signals conducted to the ventricles. For example, if the atria are electrically activated at 300 beats per minute, half those electrical impulses may be blocked by the AV node, so that the ventricles are stimulated at only 150 beats per minute – resulting in a pulse of 150 beats per minute. Another important property of the AV node is that it slows down individual electrical impulses. This is manifested on the electrocardiogram as the PR interval (the time from electrical activation of the atria to electrical activation of the ventricles), which is usually shortened to less than 120 milliseconds in duration.[citation needed]
Individuals with WPW have an accessory pathway that communicates between the atria and the ventricles, in addition to the AV node. This accessory pathway is known as the bundle of Kent. This accessory pathway does not share the rate-slowing properties of the AV node, and may conduct electrical activity at a significantly higher rate than the AV node. For instance, in the example above, if an individual had an atrial rate of 300 beats per minute, the accessory bundle may conduct all the electrical impulses from the atria to the ventricles, causing the ventricles to contract at 300 beats per minute. Extremely rapid heart rates such as this may result in hemodynamic instability or cardiogenic shock. In some cases, the combination of an accessory pathway and abnormal heart rhythms can trigger ventricular fibrillation, a leading cause of sudden cardiac death.[citation needed]
WPW may be associated with PRKAG2, a protein kinase enzyme encoded by the PRKAG2 gene.[8]
### Bundle of Kent[edit]
Graphic representation of the bundle of Kent in Wolff–Parkinson–White syndrome
The bundle of Kent is an abnormal extra or accessory conduction pathway between the atria and ventricles that is present in a small percentage (between 0.1 and 0.3%) of the general population.[9][10][11] This pathway may communicate between the left atrium and the left ventricle, in which case it is termed a "type A pre-excitation", or between the right atrium and the right ventricle, in which case it is termed a "type B pre-excitation".[12] Problems arise when this pathway creates an electrical circuit that bypasses the AV node. The AV node is capable of slowing the rate of conduction of electrical impulses to the ventricles, whereas the bundle of Kent lacks this capability. When an aberrant electrical connection is made via the bundle of Kent, tachydysrhythmias may therefore result.[citation needed]
## Diagnosis[edit]
One beat from a rhythm strip in V2 demonstrating characteristic findings in Wolff–Parkinson–White syndrome: Note the characteristic delta wave (above the blue bar), the short PR interval (red bar) of 80 ms, and the long QRS complex (blue bar plus green bar) at 120 ms.
WPW is commonly diagnosed on the basis of the electrocardiogram in an asymptomatic individual. In this case, it is manifested as a delta wave, which is a slurred upstroke in the QRS complex that is associated with a short PR interval. The short PR interval and slurring of the QRS complex are reflective of the impulse making it to the ventricles early (via the accessory pathway) without the usual delay experienced in the AV node.[citation needed]
If a person with WPW experiences episodes of atrial fibrillation, the ECG shows a rapid polymorphic wide-complex tachycardia (without torsades de pointes). This combination of atrial fibrillation and WPW is considered dangerous, and most antiarrhythmic drugs are contraindicated.[citation needed]
When an individual is in normal sinus rhythm, the ECG characteristics of WPW are a short PR interval (less than 120 milliseconds in duration), widened QRS complex (greater than 120 milliseconds in duration) with slurred upstroke of the QRS complex, and secondary repolarization changes (reflected in ST segment-T wave changes).[citation needed]
In individuals with WPW, electrical activity that is initiated in the SA node travels through the accessory pathway, as well as through the AV node to activate the ventricles via both pathways. Since the accessory pathway does not have the impulse slowing properties of the AV node, the electrical impulse first activates the ventricles via the accessory pathway, and immediately afterwards via the AV node. This gives the short PR interval and slurred upstroke of the QRS complex known as the delta wave.[citation needed]
In case of type A pre-excitation (left atrioventricular connections), a positive R wave is seen in V1 ("positive delta") on the precordial leads of the electrocardiogram, while in type B pre-excitation (right atrioventricular connections), a predominantly negative delta wave is seen in lead V1 ("negative delta").[12]
People with WPW may have more than one accessory pathway – in some cases, as many as eight abnormal pathways have been found. This has been seen in individuals with Ebstein's anomaly.[citation needed]
Wolff–Parkinson–White syndrome is sometimes associated with Leber's hereditary optic neuropathy, a form of mitochondrial disease.[13]
### Risk stratification[edit]
12 lead electrocardiogram of an individual with Wolff–Parkinson–White syndrome
WPW carries a small risk of sudden death, presumably due to rapidly conducted atrial fibrillation causing ventricular fibrillation. While the overall risk is approximately 2.4 per 1000 person years, the risk in an individual is dependent on the properties of the accessory pathway causing pre-excitation.[7]
A higher risk accessory pathway may be suggested by a history of syncope, but risk stratification is best performed by assessing how frequently a pathway can conduct impulse to the ventricles, usually via programmed electrical stimulation (PES) in the cardiac electrophysiology laboratory. This is an invasive but generally low-risk procedure during which the atria are stimulated to try to induce tachycardia. If a tachycardia involving the accessory pathway can be triggered, the cardiologist can then assess how rapidly the accessory pathway is able to conduct. The faster it can conduct, the higher the likelihood the accessory pathway can conduct fast enough to trigger a lethal tachycardia.[citation needed]
High-risk features that may be present during PES include an effective refractory period of the accessory pathway less than 250 ms, multiple pathways, septal location of pathway, and inducibility of supraventricular tachycardia (AVRT, atrial fibrillation). Individuals with any of these high-risk features are generally considered at increased risk for SCD or symptomatic tachycardia, and should be treated accordingly (i.e.: catheter ablation).[14]
It is unclear whether invasive risk stratification (with PES) is necessary in the asymptomatic individual.[15] While some groups advocate PES for risk stratification in all individuals under 35 years old, others only offer it to individuals who have history suggestive of a tachydysrhythmia, since the incidence of sudden cardiac death is so low (less than 0.6% in some reports).[11][16][17]
Other methods of risk stratification include observing the ventricular rate during spontaneous atrial fibrillation on a 12-lead ECG. RR intervals of less than 250 ms suggest a higher risk pathway. During exercise testing, abrupt loss of pre-excitation as heart rate increases also suggest a lower risk pathway.[7] However, this approach is hampered by the normal improvement in AV node conduction during exercise which can also mask pre-excitation despite ongoing conduction down the accessory pathway.[18]
## Treatment[edit]
People with WPW who are experiencing tachydysrhythmias may require synchronized electrical cardioversion if they are demonstrating severe signs or symptoms (for example, low blood pressure or lethargy with altered mental status). If they are relatively stable, medication may be used.[citation needed]
### Medications[edit]
People with atrial fibrillation and rapid ventricular response may be treated with amiodarone[19] or procainamide[20] to stabilize their heart rate. Procainamide and cardioversion are accepted treatments for conversion of tachycardia found with WPW.[21] Amiodarone in atrial fibrillation with WPW, is linked to ventricular fibrillation, and thus may be worse than procainamide.[19]
AV node blockers should be avoided in atrial fibrillation and atrial flutter with WPW or history of it; this includes adenosine, diltiazem, verapamil, other calcium channel blockers, and beta blockers.[22] They can exacerbate the syndrome by blocking the heart's normal electrical pathway (therefore favoring 1:1 atrial to ventricle conduction through the pre-excitation pathway, potentially leading to unstable ventricular arrhythmias).[citation needed]
### Radiofrequency catheter ablation[edit]
The definitive treatment of WPW is the destruction of the abnormal electrical pathway by radiofrequency catheter ablation. This procedure is performed by cardiac electrophysiologists. Radiofrequency catheter ablation is not performed in all individuals with WPW because inherent risks are involved in the procedure. When performed by an experienced electrophysiologist, radiofrequency ablation has a high success rate.[23] Findings from 1994 indicate success rates of as high as 95% in people treated with radiofrequency catheter ablation for WPW.[24] If radiofrequency catheter ablation is successfully performed, the condition is generally considered cured. Recurrence rates are typically less than 5% after a successful ablation.[23] The one caveat is that individuals with underlying Ebstein's anomaly may develop additional accessory pathways during progression of their disease.[citation needed]
## History[edit]
The bundle of Kent is eponymously named for British physiologist Albert Frank Stanley Kent (1863–1958), who described lateral branches in the atrioventricular groove of the monkey heart (erroneously believing these constituted the normal atrioventricular conduction system).[25][26]
In 1915, Frank Norman Wilson (1890–1952) became the first to describe the condition later called Wolff–Parkinson–White syndrome.[27] Alfred M. Wedd (1887–1967) was the next to describe the condition in 1921.[28] Cardiologists Louis Wolff (1898–1972), John Parkinson (1885–1976) and Paul Dudley White (1886–1973) are credited with the definitive description of the disorder in 1930.[29]
## Notable cases[edit]
* LaMarcus Aldridge, American basketball player[30]
* Michael Cera, Canadian actor[31]
* Nathan Eagleton, former Australian rules football player[32]
* Jeff Garlin, American actor, writer, and comedian[33]
* Quentin Groves, American football player who died of a heart attack at age 32[34]
* Dan Hardy, British UFC welterweight fighter,[35] turned analyst and commentator
* Mitch Hurwitz, American television writer and producer, creator of Arrested Development[33]
* Jessie J, British musician[36]
* Marilyn Manson, American musician, painter, and actor[37]
* Meat Loaf, American musician[38]
* Michael Rupp, American ice hockey player[39]
* Montel Vontavious Porter, professional wrestler[40]
* Michael Montgomery, American football player[41]
* Claire Dunphy, Modern Family Character [42]
## See also[edit]
* Re-entry ventricular arrhythmia
## References[edit]
1. ^ a b c d e f g h i j k Reference, Genetics Home (March 2017). "Wolff-Parkinson-White syndrome". Genetics Home Reference. Archived from the original on 27 April 2017. Retrieved 30 April 2017.
2. ^ a b c d e f "Wolff-Parkinson-White syndrome". rarediseases.info.nih.gov. 31 December 2012. Archived from the original on 21 April 2017. Retrieved 30 April 2017.
3. ^ a b c d e Bhatia, A; Sra, J; Akhtar, M (March 2016). "Preexcitation Syndromes". Current Problems in Cardiology. 41 (3): 99–137. doi:10.1016/j.cpcardiol.2015.11.002. PMID 26897561.
4. ^ a b Liu, A; Pusalkar, P (29 June 2011). "Asymptomatic Wolff-Parkinson-White syndrome: incidental ECG diagnosis and a review of literature regarding current treatment". BMJ Case Reports. 2011: bcr0520114192. doi:10.1136/bcr.05.2011.4192. PMC 3128358. PMID 22693197.
5. ^ a b c d e Kim, SS; Knight, BP (May 2017). "Long term risk of Wolff-Parkinson-White pattern and syndrome". Trends in Cardiovascular Medicine. 27 (4): 260–68. doi:10.1016/j.tcm.2016.12.001. PMID 28108086.
6. ^ Simonian, SM; Lotfipour, S; Wall, C; Langdorf, MI (October 2010). "Challenging the superiority of amiodarone for rate control in Wolff-Parkinson-White and atrial fibrillation". Internal and Emergency Medicine. 5 (5): 421–26. doi:10.1007/s11739-010-0385-6. PMID 20437113. S2CID 25283602.
7. ^ a b c Brugada, Josep; Katritsis, Demosthenes G.; Arbelo, Elena; Arribas, Fernando; Bax, Jeroen J.; Blomström-Lundqvist, Carina; Calkins, Hugh; Corrado, Domenico; Deftereos, Spyridon G.; Diller, Gerhard-Paul; Gomez-Doblas, Juan J. (2019-08-31). "2019 ESC Guidelines for the management of patients with supraventricular tachycardiaThe Task Force for the management of patients with supraventricular tachycardia of the European Society of Cardiology (ESC)". European Heart Journal. 41 (5): 655–720. doi:10.1093/eurheartj/ehz467. ISSN 1522-9645. PMID 31504425.
8. ^ Gollob MH (January 2008). "Modulating phenotypic expression of the PRKAG2 cardiac syndrome". Circulation. 117 (2): 134–35. doi:10.1161/CIRCULATIONAHA.107.747345. PMID 18195183.
9. ^ Rosner MH, Brady WJ, Kefer MP, Martin ML (1999). "Electrocardiography in the patient with the Wolff–Parkinson–White syndrome: diagnostic and initial therapeutic issues". American Journal of Emergency Medicine. 17 (7): 705–14. doi:10.1016/S0735-6757(99)90167-5. PMID 10597097.
10. ^ Sorbo MD, Buja GF, Miorelli M, Nistri S, Perrone C, Manca S, Grasso F, Giordano GM, Nava A (1995). "The prevalence of the Wolff–Parkinson–White syndrome in a population of 116,542 young males". Giornale Italiano di Cardiologia (in Italian). 25 (6): 681–87. PMID 7649416.
11. ^ a b Munger TM, Packer DL, Hammill SC, Feldman BJ, Bailey KR, Ballard DJ, Holmes DR, Gersh BJ (1993). "A population study of the natural history of Wolff–Parkinson–White syndrome in Olmsted County, Minnesota, 1953–1989". Circulation. 87 (3): 866–73. doi:10.1161/01.CIR.87.3.866. PMID 8443907.
12. ^ a b americanheart.org Atrial and Ventricular Depolarization Changes Archived 2010-09-17 at the Wayback Machine Last updated 11/24/2008.
13. ^ Mashima Y, Kigasawa K, Hasegawa H, Tani M, Oguchi Y (1996). "High incidence of pre-excitation syndrome in Japanese families with Leber's hereditary optic neuropathy". Clinical Genetics. 50 (6): 535–37. doi:10.1111/j.1399-0004.1996.tb02732.x. PMID 9147893. S2CID 11057255.
14. ^ Pappone C, Santinelli V, Manguso F, Augello G, Santinelli O, Vicedomini G, Gulletta S, Mazzone P, Tortoriello V, Pappone A, Dicandia C, Rosanio S (2003). "A randomized study of prophylactic catheter ablation in asymptomatic patients with the Wolff–Parkinson–White syndrome". New England Journal of Medicine. 349 (19): 1803–11. doi:10.1056/NEJMoa035345. PMID 14602878.
15. ^ Campbell RM, Strieper MJ, Frias PA, Collins KK, Van Hare GF, Dubin AM (2003). "Survey of current practice of pediatric electrophysiologists for asymptomatic Wolff–Parkinson–White syndrome". Pediatrics. 111 (3): e245–47. doi:10.1542/peds.111.3.e245. PMID 12612279. Archived from the original on 2011-01-30.
16. ^ Fitzsimmons PJ, McWhirter PD, Peterson DW, Kruyer WB (2001). "The natural history of Wolff–Parkinson–White syndrome in 228 military aviators: a long-term follow-up of 22 years". American Heart Journal. 142 (3): 530–36. doi:10.1067/mhj.2001.117779. PMID 11526369.
17. ^ John Kenyon. Wolff–Parkinson–White Syndrome and the Risk of Sudden Cardiac Death. Doctors Lounge Website. Available at: "Wolff-Parkinson-White Syndrome and the Risk of Sudden Cardiac Death". Archived from the original on 2010-10-10. Retrieved 2010-10-07..
18. ^ Josephson, Mark E. (2015). Josephson's clinical cardiac electrophysiology : techniques and interpretations. Preceded by: Josephson, Mark E. (Fifth ed.). Baltimore, MD. ISBN 978-1496326614. OCLC 938434294.[page needed]
19. ^ a b Simonian, SM; Lotfipour, S; Wall, C; Langdorf, MI (October 2010). "Challenging the superiority of amiodarone for rate control in Wolff-Parkinson-White and atrial fibrillation". Internal and Emergency Medicine. 5 (5): 421–26. doi:10.1007/s11739-010-0385-6. PMID 20437113. S2CID 25283602.
20. ^ Fengler BT, Brady WJ, Plautz CU (June 2007). "Atrial fibrillation in the Wolff–Parkinson–White syndrome: ECG recognition and treatment in the ED". Am J Emerg Med. 25 (5): 576–83. doi:10.1016/j.ajem.2006.10.017. PMID 17543664.
21. ^ Ritchie JV, Juliano ML, Thurman RJ. "23: ECG Abnormalities". In Knoop KJ, Stack LB, Storrow AB, Thurman RJ (eds.). The Atlas of Emergency Medicine, 3e.
22. ^ Wald DA (2009). "Resuscitation". In Lex J (ed.). Emergency Medicine Q&A (3rd ed.). McGraw–Hill. p. 4. ISBN 978-0-7216-5944-2.
23. ^ a b Pappone C, Lamberti F, Santomauro M, Stabile G, De Simone A, Turco P, Pannain S, Loricchio ML, Rotunno R, Chiariello M (1993). "Ablation of paroxysmal tachycardia in Wolff–Parkinson–White syndrome". Cardiologia (in Italian). 38 (12 Suppl 1): 189–97. PMID 8020017.
24. ^ Thakur RK, Klein GJ, Yee R (September 1994). "Radiofrequency catheter ablation in patients with Wolff-Parkinson-White syndrome". CMAJ. 151 (6): 771–76. PMC 1337132. PMID 8087753.
25. ^ Kent AFS (1893). "Researches on the structure and function of the mammalian heart". Journal of Physiology. 14 (4–5): 233–54. doi:10.1113/jphysiol.1893.sp000451. PMC 1514401. PMID 16992052.
26. ^ Kent AFS (1914). "A conducting path between the right auricle and the external wall of the right ventricle in the heart of the mammal". Journal of Physiology. 48: 57.
27. ^ Wilson FN (1915). "A case in which the vagus influenced the form of the ventricular complex of the electrocardiogram". Archives of Internal Medicine. 16 (6): 1008–27. doi:10.1001/archinte.1915.00080060120009.
28. ^ Wedd AM (1921). "Paroxysmal tachycardia, with reference to nomotropic tachycardia and the role of the extrinsic cardiac nerves". Archives of Internal Medicine. 27 (5): 571–90. doi:10.1001/archinte.1921.00100110056003.
29. ^ Wolff L, Parkinson J, White PD (1930). "Bundle-branch block with short P-R interval in healthy young people prone to paroxysmal tachyardia". American Heart Journal. 5 (6): 685–704. doi:10.1016/S0002-8703(30)90086-5.
30. ^ "Aldridge out with Wolff–Parkinson–White Syndrome". ESPN.com. Associated Press. 2007-04-10. Archived from the original on 2012-11-05. Retrieved 2007-04-10.
31. ^ Hedegaard, Erik (19 August 2010). "Michael Cera: Nerdchild in the Promised Land". Rolling Stone. Archived from the original on 27 February 2015. Retrieved 11 March 2015.
32. ^ Landsberger S (April 17, 2008). "Courageous dog all heart". Archived from the original on December 22, 2008. Retrieved 2008-04-17.
33. ^ a b "By The Way, in conversation with Jeff Garlin podcast episode #5". Archived from the original on 2013-03-11.
34. ^ "Quentin Groves, ex-Jaguars draft pick out of Auburn, passes away at 32". FOX Sports. October 15, 2016. Archived from the original on October 16, 2016.
35. ^ John Joe O'Regan (2013-03-22). "Dan Hardy "has wolf heart"". Fighters Only. Archived from the original on 2013-03-23. Retrieved 2013-05-10.
36. ^ "Jessie J Shares Battle With Heart Disease". International Business Times. November 21, 2014. Archived from the original on July 1, 2015.
37. ^ "Archived copy". Archived from the original on 2014-07-02. Retrieved 2014-12-05.CS1 maint: archived copy as title (link)
38. ^ "Meat Loaf recalls stage collapse". BBC News. 2003-11-28. Archived from the original on 2009-01-11. Retrieved 2007-04-17.
39. ^ Chere R (2008-09-25). "New Jersey Devils' Rupp has been in teammate Tallackson's shoes". NJ.com. Archived from the original on 2008-12-05. Retrieved 2008-11-21.
40. ^ "MVP Interview". IGN. 2007-05-24. Archived from the original on 2007-10-13. Retrieved 2007-10-06.
41. ^ "Archived copy". Archived from the original on 2015-04-02. Retrieved 2015-03-27.CS1 maint: archived copy as title (link)
42. ^ https://www.usatoday.com/story/life/tv/2018/09/14/which-modern-family-character-die/1300690002/
## External links[edit]
* Wolff–Parkinson–White syndrome at Curlie
* Genetics Home Reference:Wolff-Parkinson-White syndrome (United States National Library of Medicine, Bethesda, Maryland)
Classification
D
* ICD-10: I45.6
* ICD-9-CM: 426.7
* OMIM: 194200
* MeSH: D014927
* DiseasesDB: 14186
External resources
* MedlinePlus: 000151
* eMedicine: emerg/644 med/2417
* Patient UK: Wolff–Parkinson–White syndrome
* v
* t
* e
Cardiovascular disease (heart)
Ischaemic
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* Cardiac fibrosis
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* v
* t
* e
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GTP-binding protein regulators
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Guanine nucleotide exchange factor
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Monomeric
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See also intracellular signaling peptides and proteins
Authority control
* NDL: 00576080
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
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*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
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*[COL]: Colombia
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*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Wolff–Parkinson–White syndrome
|
c0032915
| 25,111 |
wikipedia
|
https://en.wikipedia.org/wiki/Wolff%E2%80%93Parkinson%E2%80%93White_syndrome
| 2021-01-18T18:44:41 |
{"gard": ["7897"], "mesh": ["D014927", "D011226"], "umls": ["C0264897", "C0032915"], "orphanet": ["907"], "wikidata": ["Q925092"]}
|
"Head rush" redirects here. For the television science series, see Head Rush (TV series).
Orthostatic hypotension
Other namesOrthostasis, postural, positional hypotension
SpecialtyCardiology, Neurology
Symptomssymptoms that are worse when sitting or standing and improve when lying down, including lightheadedness, vertigo, tinnitus, slurred speech, confusion, coathanger pain in neck and shoulders, grayed or blurred vision, severe fatigue, fainting or near fainting
Complicationscumulative brain damage, sudden death from falls
Diagnostic methodin-office (lay down for at least 20 minutes, take BP; stand for 3 minutes, take BP), or tilt-table testing by an autonomic specialist
Treatmentidentify and treat causes (medications, dehydration), midodrine, compression garments, bed tilting
Prognosisdepends on frequency, severity, and underlying cause; neurogenic orthostatic hypotension is a chronic, debilitating, and often progressively fatal condition[1]
Orthostatic hypotension, also known as postural hypotension,[2] is a medical condition wherein a person's blood pressure drops when standing up or sitting down. The drop in blood pressure may be sudden (vasovagal orthostatic hypotension), within 3 minutes (classic orthostatic hypotension) or gradual (delayed orthostatic hypotension).[3] It is defined as a fall in systolic blood pressure of at least 20 mm Hg or diastolic blood pressure of at least 10 mm Hg when a person assumes a standing position. It occurs predominantly by delayed (or absent) constriction of the lower body blood vessels, which is normally required to maintain an adequate blood pressure when changing position to standing. As a result, blood pools in the blood vessels of the legs for a longer period and less is returned to the heart, thereby leading to a reduced cardiac output and inadequate blood flow to the brain.
Very mild occasional orthostatic hypotension is common and can occur briefly in anyone, although it is prevalent in particular among the elderly and those with known low blood pressure. Severe drops in blood pressure can lead to fainting, with a possibility of injury. Moderate drops in blood pressure can cause confusion/inattention, delirium, and episodes of ataxia. Chronic orthostatic hypotension is associated with cerebral hypoperfusion that may accelerate the pathophysiology of dementia.[4] Whether it is a causative factor in dementia is unclear. [5]
There are numerous possible causes for orthostatic hypotension, such as certain medications (e.g. alpha blockers), autonomic neuropathy, decreased blood volume, multiple system atrophy, and age-related blood vessel stiffness.
Apart from addressing the underlying cause, orthostatic hypotension may be treated with a recommendation to increase salt and water intake (to increase the blood volume), wearing compression stockings, and sometimes medication (fludrocortisone, midodrine or others). Salt loading (dramatic increases in salt intake) must be supervised by a doctor, as this can cause severe neurological problems if done too aggressively.
## Contents
* 1 Signs and symptoms
* 1.1 Associated diseases
* 2 Causes
* 2.1 Medication
* 2.2 Other factors
* 3 Mechanism
* 4 Diagnosis
* 4.1 Definition
* 4.2 Subcategories
* 5 Management
* 5.1 Lifestyle changes
* 5.2 Medications
* 6 Prognosis
* 7 See also
* 8 References
* 9 External links
## Signs and symptoms[edit]
Orthostatic hypotension is characterized by symptoms that occur after standing (from lying or sitting), particularly when this is done rapidly. Many report lightheadedness (a feeling that one might be about to faint), sometimes severe. With chronic orthostatic hypotension, the condition and its effects may worsen even as fainting and many other symptoms become less frequent. Generalized weakness or tiredness may also occur. Some also report difficulty concentrating, blurred vision, tremulousness, vertigo, anxiety, palpitations (awareness of the heartbeat), unsteadiness, feeling sweaty or clammy, and sometimes nausea. A person may look pale.[6] Some people may experience severe orthostatic hypotension with the only symptoms being confusion or extreme fatigue. Chronic severe orthostatic hypotension may present as fluctuating cognition/delirium.
### Associated diseases[edit]
The disorder may be associated with Addison's disease, atherosclerosis (build-up of fatty deposits in the arteries), diabetes, pheochromocytoma, porphyria,[7] and certain neurological disorders, including autoimmune autonomic ganglionopathy, multiple system atrophy and other forms of dysautonomia. It is also associated with Ehlers–Danlos syndrome and anorexia nervosa. It is also present in many patients with Parkinson's disease or Lewy body dementia resulting from sympathetic denervation of the heart or as a side-effect of dopaminomimetic therapy. This rarely leads to fainting unless the person has developed true autonomic failure or has an unrelated heart problem.[citation needed]
Another disease, dopamine beta hydroxylase deficiency, also thought to be underdiagnosed, causes loss of sympathetic noradrenergic function and is characterized by a low or extremely low levels of norepinephrine, but an excess of dopamine.[8]
Quadriplegics and paraplegics also might experience these symptoms due to multiple systems' inability to maintain a normal blood pressure and blood flow to the upper part of the body.[citation needed]
## Causes[edit]
Some causes of orthostatic hypotension include: neurodegenerative disorders, low blood volume (e.g. caused by dehydration, bleeding, or the use of diuretics), drugs that cause vasodilation, other types of drugs (notably, narcotics and marijuana, discontinuation of vasoconstrictors, prolonged bed rest (immobility), significant recent weight loss, anemia,[9] or recent bariatric surgery.[10]
### Medication[edit]
Tetrahydrocannabinol
Orthostatic hypotension can be a side-effect of certain antidepressants, such as tricyclics[11] or monoamine oxidase inhibitors (MAOIs).[12] Marijuana and tetrahydrocannabinol can on occasion produce marked orthostatic hypotension.[13] Alcohol can potentiate orthostatic hypotension to the point of syncope.[14] Orthostatic hypotension can also be a side effect of alpha-1 blockers (alpha1 adrenergic blocking agents). Alpha1 blockers inhibit vasoconstriction normally initiated by the baroreceptor reflex upon postural change and the subsequent drop in pressure.[15]
### Other factors[edit]
Patients prone to orthostatic hypotension are the elderly, post partum mothers, and those having been on bedrest. People suffering from anorexia nervosa and bulimia nervosa often suffer from orthostatic hypotension as a common side-effect. Consuming alcohol may also lead to orthostatic hypotension due to its dehydrating effects.[citation needed]
## Mechanism[edit]
Orthostatic hypotension happens when gravity causes blood to pool in the lower extremities, which in turn compromises venous return, resulting in decreased cardiac output and subsequent lowering of arterial pressure. For example, changing from a lying position to standing loses about 700 ml of blood from the thorax, with a decrease in systolic and diastolic blood pressures.[16] The overall effect is an insufficient blood perfusion in the upper part of the body.[citation needed]
Normally, a series of cardiac, vascular, neurologic, muscular, and neurohumoral responses occur quickly so the blood pressure does not fall very much. One response is a vasoconstriction (baroreceptor reflex), pressing the blood up into the body again. (Often, this mechanism is exaggerated and is why diastolic blood pressure is a bit higher when a person is standing up, compared to a person in the horizontal position.) Therefore, some factor that inhibits one of these responses and causes a greater than normal fall in blood pressure is required. Such factors include low blood volume, diseases, and medications.[citation needed]
## Diagnosis[edit]
Orthostatic hypotension can be confirmed by measuring a person's blood pressure after lying flat for 5 minutes, then 1 minute after standing, and 3 minutes after standing.[17] Orthostatic hypotension is defined as a fall in systolic blood pressure of at least 20 mmHg or in the diastolic blood pressure of at least 10 mmHg between the supine reading and the upright reading. In addition, the heart rate should also be measured for both positions. A significant increase in heart rate from supine to standing may indicate a compensatory effort by the heart to maintain cardiac output. A related syndrome, postural orthostatic tachycardia syndrome (POTS), is diagnosed when there is at least a 30 bpm increase in heart rate with little or no change on blood pressure. A tilt table test may also be performed.[18]
### Definition[edit]
Orthostatic hypotension (or postural hypotension) is a drop in blood pressure upon standing. One definition (AAFP) calls for a systolic blood pressure decrease of at least 20 mm Hg or a diastolic blood pressure decrease of at least 10 mm Hg within three minutes of standing.[19] A common first symptom is lightheadedness upon standing, possibly followed by more severe symptoms: narrowing or loss of vision, dizziness, weakness, and even syncope (fainting).
### Subcategories[edit]
Orthostatic hypotension can be subcategorized into three groups: initial, 'classic', and delayed.[20][21][22]
Initial orthostatic hypotension is frequently characterized by a systolic blood pressure decrease of ≥40 mmHg or diastolic blood pressure decrease of ≥20 mmHg within 15 seconds of standing.[20] Blood pressure then spontaneously and rapidly returns to normal, so the period of hypotension and symptoms is short (<30 s).[20] Only continuous beat-to-beat BP measurement during an active standing-up maneuver can document this condition.[20]
'Classic' orthostatic hypotension is frequently characterized by a systolic blood pressure decrease of ≥20 mmHg or diastolic blood pressure decrease of ≥10 mmHg between 30 seconds and 3 min of standing.[21]
Delayed orthostatic hypotension is frequently characterized a sustained systolic blood pressure decrease of ≥20 mm Hg or a sustained diastolic blood pressure decrease ≥10 mm Hg beyond 3 minutes of standing or upright tilt table testing.[22]
## Management[edit]
### Lifestyle changes[edit]
Apart from treating underlying reversible causes (e.g., stopping or reducing certain medications, treating autoimmune causes), there are a number of measures that can improve the symptoms of orthostatic hypotension and prevent episodes of syncope. Even small increases in the blood pressure may be sufficient to maintain blood flow to the brain on standing.[21]
In people who do not have a diagnosis of high blood pressure, drinking 2–3 liters of fluid a day and taking 10 grams of salt can improve symptoms, by maximizing the amount of fluid in the bloodstream.[21] Another strategy is keeping the head of the bed slightly elevated. This reduces the return of fluid from the limbs to the kidneys at night, thereby reducing nighttime urine production and maintaining fluid in the circulation.[21] Various measures can be used to improve the return of blood to the heart: the wearing of compression stockings and exercises ("physical counterpressure manoeuvres" or PCMs) that can be undertaken just before standing up (e.g., leg crossing and squatting).[21]
### Medications[edit]
The medication midodrine can benefit people with orthostatic hypotension,[21][23] The main side-effect is piloerection ("goose bumps").[23] Fludrocortisone is also used, although based on more limited evidence.[21]
A number of other measures have slight evidence to support their use indomethacin, fluoxetine, dopamine antagonists, metoclopramide, domperidone, monoamine oxidase inhibitors with tyramine (can produce severe hypertension), oxilofrine, potassium chloride, and yohimbine.[24]
## Prognosis[edit]
Orthostatic hypotension may cause accidental falls.[25] It is also linked to an increased risk of cardiovascular disease, heart failure, and stroke.[26] There is also observational data suggesting that orthostatic hypotension in middle age increases the risk of eventual dementia and reduced cognitive function.[27]
## See also[edit]
* Orthostatic intolerance
* Orthostatic hypertension
* Postural orthostatic tachycardia syndrome
* Vasovagal response
## References[edit]
1. ^ Arnold, Amy C.; Raj, Satish R. (December 2017). "Orthostatic Hypotension: A Practical Approach to Investigation and Management". Canadian Journal of Cardiology. 33 (12): 1725–1728. doi:10.1016/j.cjca.2017.05.007. PMC 5693784. PMID 28807522.
2. ^ "Orthostatic hypotension" at Dorland's Medical Dictionary
3. ^ "Orthostatic Hypotension Information Page | National Institute of Neurological Disorders and Stroke". www.ninds.nih.gov. Retrieved 2017-03-26.
4. ^ Hase Y, Polvikoski TM, Firbank MJ, Craggs LJ, Hawthorne E, Platten C, Stevenson W, Deramecourt V, Ballard C, Kenny RA, Perry RH, Ince P, Carare RO, Allan LM, Horsburgh K, Kalaria RN (January 2020). "Small vessel disease pathological changes in neurodegenerative and vascular dementias concomitant with autonomic dysfunction". Brain Pathology. 30 (1): 191–202. doi:10.1007/s10072-014-1686-8. PMID 31357238.
5. ^ Sambati L, Calandra-Buonaura G, Poda R, Guaraldi P, Cortelli P (June 2014). "Orthostatic hypotension and cognitive impairment: a dangerous association?". Neurol. Sci. 35 (6): 951–7. doi:10.1007/s10072-014-1686-8. PMID 24590841.
6. ^ Kasper DL, Fauci AS, Hauser SL, Longo DL, James JL, Loscalzo J (2015). Harrison's principles of internal medicine. 2 (19th ed.). New York: McGraw-Hill Medical Publishing Division. p. 2639. ISBN 978-0-07-180215-4.
7. ^ Sim M, Hudon R (October 1979). "Acute intermittent porphyria associated with postural hypotension". Canadian Medical Association Journal. 121 (7): 845–6. PMC 1704473. PMID 497968.
8. ^ Robertson D, Garland EM (September 2003). "Dopamine Beta-Hydroxylase Deficiency". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). GeneReviews. University of Washington, Seattle. PMID 20301647 – via NCBI Bookshelf.
9. ^ "What Causes Hypotension? -". National Heart, Lung, and Blood Institute (NHLBI). U.S. National Institutes of Health. Retrieved 27 March 2017.
10. ^ Christou GA, Kiortsis DN (March 2017). "The effects of body weight status on orthostatic intolerance and predisposition to noncardiac syncope". Obesity Reviews. 18 (3): 370–379. doi:10.1111/obr.12501. PMID 28112481.
11. ^ Jiang W, Davidson JR (November 2005). "Antidepressant therapy in patients with ischemic heart disease". American Heart Journal. 150 (5): 871–81. doi:10.1016/j.ahj.2005.01.041. PMID 16290952.
12. ^ Delini-Stula A, Baier D, Kohnen R, Laux G, Philipp M, Scholz HJ (March 1999). "Undesirable blood pressure changes under naturalistic treatment with moclobemide, a reversible MAO-A inhibitor--results of the drug utilization observation studies". Pharmacopsychiatry. 32 (2): 61–7. doi:10.1055/s-2007-979193. PMID 10333164.
13. ^ Jones RT (November 2002). "Cardiovascular system effects of marijuana". Journal of Clinical Pharmacology. 42 (S1): 58S–63S. doi:10.1002/j.1552-4604.2002.tb06004.x. PMID 12412837.
14. ^ Narkiewicz K, Cooley RL, Somers VK (February 2000). "Alcohol potentiates orthostatic hypotension : implications for alcohol-related syncope". Circulation. 101 (4): 398–402. doi:10.1161/01.CIR.101.4.398. PMID 10653831.
15. ^ Shea MJ, Thompson AD. "Orthostatic Hypotension". Merck Manual.
16. ^ Idiopathic Orthostatic Hypotension and other Autonomic Failure Syndromes at eMedicine
17. ^ "Measurement of lying and standing blood pressure: A brief guide for clinical staff". RCP London. 2017-01-13. Retrieved 2019-09-23.
18. ^ Natale, A., Akhtar, M., Jazayeri, M., Dhala, A., Blanck, Z., Deshpande, S., et al. (1995). Provocation of Hypotension During Head-Up Tilt Testing in Subjects With No History of Syncope or Presyncop. American Heart Association, (92), 54-58. doi: 10.1161/01.CIR.92.1.54; url: http://circ.ahajournals.org/content/92/1/54.full
19. ^ Bradley JG, Davis KA (December 2003). "Orthostatic hypotension". American Family Physician. 68 (12): 2393–8. PMID 14705758.
20. ^ a b c d Wieling W, Krediet CT, van Dijk N, Linzer M, Tschakovsky ME (February 2007). "Initial orthostatic hypotension: review of a forgotten condition". Clinical Science. 112 (3): 157–65. doi:10.1042/CS20060091. PMID 17199559.
21. ^ a b c d e f g h Moya A, Sutton R, Ammirati F, Blanc JJ, Brignole M, Dahm JB, Deharo JC, Gajek J, Gjesdal K, Krahn A, Massin M, Pepi M, Pezawas T, Ruiz Granell R, Sarasin F, Ungar A, van Dijk JG, Walma EP, Wieling W (November 2009). "Guidelines for the diagnosis and management of syncope (version 2009)". European Heart Journal. 30 (21): 2631–71. doi:10.1093/eurheartj/ehp298. PMC 3295536. PMID 19713422.
22. ^ a b Gibbons CH, Freeman R (July 2006). "Delayed orthostatic hypotension: a frequent cause of orthostatic intolerance". Neurology. 67 (1): 28–32. doi:10.1212/01.wnl.0000223828.28215.0b. PMID 16832073.
23. ^ a b Izcovich A, González Malla C, Manzotti M, Catalano HN, Guyatt G (September 2014). "Midodrine for orthostatic hypotension and recurrent reflex syncope: A systematic review". Neurology. 83 (13): 1170–7. doi:10.1212/WNL.0000000000000815. PMID 25150287.
24. ^ Logan IC, Witham MD (September 2012). "Efficacy of treatments for orthostatic hypotension: a systematic review". Age and Ageing. 41 (5): 587–94. doi:10.1093/ageing/afs061. PMID 22591985.
25. ^ Romero-Ortuno R, Cogan L, Foran T, Kenny RA, Fan CW (April 2011). "Continuous noninvasive orthostatic blood pressure measurements and their relationship with orthostatic intolerance, falls, and frailty in older people" (PDF). Journal of the American Geriatrics Society. 59 (4): 655–65. doi:10.1111/j.1532-5415.2011.03352.x. hdl:2262/57382. PMID 21438868.
26. ^ Ricci F, Fedorowski A, Radico F, Romanello M, Tatasciore A, Di Nicola M, Zimarino M, De Caterina R (July 2015). "Cardiovascular morbidity and mortality related to orthostatic hypotension: a meta-analysis of prospective observational studies". European Heart Journal. 36 (25): 1609–17. doi:10.1093/eurheartj/ehv093. PMID 25852216.
27. ^ Rawlings A, Juraschek S, Heiss G, Hughes T, Meyer M, Selvin E, Sharrett AR, Windham BG, Gottesman R (March 2017). Orthostatic Hypotension is Associated With 20-year Cognitive Decline and Incident Dementia: the Atherosclerosis Risk in Communities (ARIC) Study (PDF). Epidemiology and Prevention / Lifestyle and Cardiometabolic Health 2017 Scientific Sessions. Portland, Oregon. Archived from the original (PDF) on 2017-03-15. Retrieved 2017-03-14.
## External links[edit]
Classification
D
* ICD-10: I95.1
* ICD-9-CM: 458.0
* MeSH: D007024
* DiseasesDB: 10470
* Orthostatic hypotension at Curlie
* v
* t
* e
Diseases of the autonomic nervous system
General
* Dysautonomia
* Autonomic dysreflexia
* Autonomic neuropathy
* Pure autonomic failure
Hereditary
* Hereditary sensory and autonomic neuropathy
* Familial dysautonomia
* Congenital insensitivity to pain with anhidrosis
Orthostatic intolerance
* Orthostatic hypotension
* Postural orthostatic tachycardia syndrome
Other
* Horner's syndrome
* Multiple system atrophy
* v
* t
* e
Cardiovascular disease (vessels)
Arteries, arterioles
and capillaries
Inflammation
* Arteritis
* Aortitis
* Buerger's disease
Peripheral artery disease
Arteriosclerosis
* Atherosclerosis
* Foam cell
* Fatty streak
* Atheroma
* Intermittent claudication
* Critical limb ischemia
* Monckeberg's arteriosclerosis
* Arteriolosclerosis
* Hyaline
* Hyperplastic
* Cholesterol
* LDL
* Oxycholesterol
* Trans fat
Stenosis
* Carotid artery stenosis
* Renal artery stenosis
Other
* Aortoiliac occlusive disease
* Degos disease
* Erythromelalgia
* Fibromuscular dysplasia
* Raynaud's phenomenon
Aneurysm / dissection /
pseudoaneurysm
* torso: Aortic aneurysm
* Abdominal aortic aneurysm
* Thoracic aortic aneurysm
* Aneurysm of sinus of Valsalva
* Aortic dissection
* Aortic rupture
* Coronary artery aneurysm
* head / neck
* Intracranial aneurysm
* Intracranial berry aneurysm
* Carotid artery dissection
* Vertebral artery dissection
* Familial aortic dissection
Vascular malformation
* Arteriovenous fistula
* Arteriovenous malformation
* Telangiectasia
* Hereditary hemorrhagic telangiectasia
Vascular nevus
* Cherry hemangioma
* Halo nevus
* Spider angioma
Veins
Inflammation
* Phlebitis
Venous thrombosis /
Thrombophlebitis
* primarily lower limb
* Deep vein thrombosis
* abdomen
* Hepatic veno-occlusive disease
* Budd–Chiari syndrome
* May–Thurner syndrome
* Portal vein thrombosis
* Renal vein thrombosis
* upper limb / torso
* Mondor's disease
* Paget–Schroetter disease
* head
* Cerebral venous sinus thrombosis
* Post-thrombotic syndrome
Varicose veins
* Gastric varices
* Portacaval anastomosis
* Caput medusae
* Esophageal varices
* Hemorrhoid
* Varicocele
Other
* Chronic venous insufficiency
* Chronic cerebrospinal venous insufficiency
* Superior vena cava syndrome
* Inferior vena cava syndrome
* Venous ulcer
Arteries or veins
* Angiopathy
* Macroangiopathy
* Microangiopathy
* Embolism
* Pulmonary embolism
* Cholesterol embolism
* Paradoxical embolism
* Thrombosis
* Vasculitis
Blood pressure
Hypertension
* Hypertensive heart disease
* Hypertensive emergency
* Hypertensive nephropathy
* Essential hypertension
* Secondary hypertension
* Renovascular hypertension
* Benign hypertension
* Pulmonary hypertension
* Systolic hypertension
* White coat hypertension
Hypotension
* Orthostatic hypotension
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Orthostatic hypotension
|
c0020651
| 25,112 |
wikipedia
|
https://en.wikipedia.org/wiki/Orthostatic_hypotension
| 2021-01-18T18:48:05 |
{"mesh": ["D007024"], "umls": ["C0020651"], "icd-9": ["458.0"], "icd-10": ["I95.1"], "wikidata": ["Q7104966"]}
|
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
|
c1855788
| 25,113 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2269
| 2021-01-23T18:34:21 |
{"gard": ["292"], "mesh": ["C537364"], "omim": ["242510"], "umls": ["C1855788"], "synonyms": ["Jagell-Holmgren-Hofer syndrome"]}
|
A number sign (#) is used with this entry because of evidence that Jansen-de Vries syndrome (JDVS) is caused by heterozygous mutation in the PPM1D gene (605100) on chromosome 17q23.
Description
Jansen-de Vries syndrome (JDVS) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).
Clinical Features
Jansen et al. (2017) reported 14 unrelated patients, ranging in age from 2 to 21 years, with a neurodevelopmental disorder with common, although slightly variable, additional features. All but 1 patient had mild to severe intellectual disability, often with speech delay, and 11 (79%) had behavioral problems, such as anxiety disorders, attention deficit-hyperactivity disorder (ADHD), obsessive behavior, sensory integration problems, and autism spectrum disorder (ASD). The 1 patient with a normal IQ of 96 had learning difficulties, an anxiety disorder, and attention problems. Ten patients (71%) had some type of gastrointestinal difficulty, including feeding difficulties, periods of vomiting with or without fever, constipation, and gastroesophageal reflux. Nine patients had a high pain threshold and 7 were hypersensitive to sound. Ten patients had small hands, often with brachydactyly, and several had short stature. Other common features included hypotonia, broad-based gait, and visual problems, such as myopia, hypermetropia, and strabismus. Most patients had dysmorphic facial features, although these features varied: common findings included broad forehead, low-set posteriorly rotated ears, upturned nose, and broad mouth with thin upper lip.
Inheritance
Jansen et al. (2017) demonstrated that Jansen-de Vries syndrome is an autosomal dominant disorder.
Molecular Genetics
In 14 unrelated patients with JDVS, Jansen et al. (2017) identified heterozygous truncating mutations in the PPM1D gene (see, e.g., 605100.0001-605100.0005). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, were shown to occur de novo, except in 1 case in which parental DNA was not available for analysis. All mutations were located in the last or penultimate exon (exons 5 and 6) and were predicted to escape nonsense-mediated mRNA decay, resulting in a truncated protein that would retain the functional phosphatase domain but lack the nuclear localization signal. Analysis of cells from several patients showed that the mutations resulted in stable truncated transcripts. Patient cells showed normal p53 (TP53; 191170) activation in response to ionizing radiation, but there was a cell-growth disadvantage, suggesting a possible effect of the mutation on the stress-response pathway. The findings pointed to a role of cell-cycle checkpoint genes in neurodevelopmental disorders.
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature HEAD & NECK Face \- Broad forehead Ears \- Low-set ears \- Posteriorly rotated ears Eyes \- Hypermetropia \- Strabismus Nose \- Upturned nose Mouth \- Thin upper lip \- Broad mouth ABDOMEN Gastrointestinal \- Feeding difficulties \- Constipation \- Recurrent vomiting \- Gastroesophageal reflux SKELETAL Spine \- Hyperlordosis Hands \- Small hand \- Brachydactyly Feet \- Small feet SKIN, NAILS, & HAIR Nails \- Hypoplastic nails MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Intellectual disability \- Learning difficulties \- Broad-based gait \- Language delay \- High pain threshold \- Hypersensitivity to sound Behavioral Psychiatric Manifestations \- Attention deficit-hyperactivity disorder \- Obsessive-compulsive disorder \- Anxiety \- Autism spectrum disorder \- Sensory integration problems MISCELLANEOUS \- Variable features \- De novo mutation MOLECULAR BASIS \- Caused by mutation in the protein phosphatase, magnesium/manganese-dependent, 1D gene (PPM1D, 605100.0001 ) ▲ 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
|
JANSEN-DE VRIES SYNDROME
|
c4479517
| 25,114 |
omim
|
https://www.omim.org/entry/617450
| 2019-09-22T15:45:49 |
{"omim": ["617450"], "synonyms": ["Alternative titles", "INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD, FORMERLY"]}
|
A rare, endocrine disease characterized by autoimmune Addison disease associated with autoimmune thyroid disease or type I diabetes mellitus, or both, and without chronic candidiasis. Additional endocrine (hypogonadism, hypoparathyroidism) and non-endocrine diseases (vitiligo, autoimmune hepatitis, autoimmune gastritis, pernicious anemia, and myasthenia gravies) may be present.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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 polyendocrinopathy type 2
|
c0085860
| 25,115 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3143
| 2021-01-23T17:24:34 |
{"gard": ["7611"], "mesh": ["D016884"], "omim": ["269200"], "umls": ["C0085860"], "icd-10": ["E31.0"], "synonyms": ["APS type 2", "APS2", "Autoimmune polyendocrine syndrome type 2", "Autoimmune polyglandular syndrome type 2", "Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome", "Schmidt syndrome"]}
|
## Description
Erythema palmare hereditarium is a benign condition that was first described by Lane (1929). Erythema usually presents at birth and remains stable throughout life. Histology shows dilated vessels in the entire dermis with inflammatory infiltrate. Capillaroscopy reveals an increased number of capillary loops running parallel to the surface (summary by Kluger and Guillot, 2010).
Clinical Features
Sarma and Wang (2007) described a 44-year-old Chinese man, his mother, and his 7-year-old daughter who had red hands since birth. The condition was asymptomatic. There was no hyperhidrosis, hyperkeratosis, or any scaling. No erythema was noted on the plantar surfaces or on the skin of any other part of the body. Pressure on the palmar skin easily blanched the redness into white or pale red.
Inheritance
Olivier (1956) described affected father and 4 (out of 9) affected children.
McKusick (1970) knew of the trait in successive generations.
Inheritance \- Autosomal dominant Skin \- Palmar erythema ▲ 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
|
ERYTHEMA PALMARE HEREDITARIUM
|
c1851502
| 25,116 |
omim
|
https://www.omim.org/entry/133000
| 2019-09-22T16:41:28 |
{"mesh": ["C565041"], "omim": ["133000"], "orphanet": ["231031"]}
|
Sutton disease 2, also known as recurrent aphthous stomatitis, is a chronic inflammatory disease characterized by painful ulcers in the mouth. These sores, which can be of varying size and frequency, are commonly called canker sores. The exact cause of this condition is not fully understood, although it may be due to an abnormal immune response. Treatment is not always necessary, but may include mouth rinses, topical ointments or systemic corticosteroids.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Sutton disease 2
|
c2931748
| 25,117 |
gard
|
https://rarediseases.info.nih.gov/diseases/7714/sutton-disease-2
| 2021-01-18T17:57:27 |
{"mesh": ["C538145"], "umls": ["C2931748"], "synonyms": ["Aphthous Stomatitis, Recurrent", "Aphthous Ulcer, Recurrent", "Major Aphthous Ulcer", "Major Canker Sore", "Recurrent Scarring Aphthae"]}
|
A number sign (#) is used with this entry because Bohring-Opitz syndrome, also known as C-like syndrome, is caused by de novo heterozygous mutation in the ASXL1 gene (612990) on chromosome 20q11.
Description
Bohring-Opitz syndrome is a malformation syndrome characterized by severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints (summary by Hoischen et al., 2011).
See also the C syndrome (211750), a disorder with a similar phenotype caused by heterozygous mutation in the CD96 gene (606037) on chromosome 3q13.
Clinical Features
Bohring et al. (1999) presented 4 unrelated cases of a syndrome resembling Opitz trigonocephaly (C) syndrome (211750). However, these cases differed from C syndrome on the basis of intrauterine growth retardation, cleft lip/palate, exophthalmos, retinal involvement, flexion deformities of the upper limbs, dislocation of radial heads, and forehead hirsutism. The authors also identified 2 cases in the literature, formerly reported as having C syndrome (Addor et al., 1995; Oberklaid and Danks, 1975), with a similar phenotype to that in their cases. All 6 cases were sporadic. The authors suggested that these infants may represent the most severe form of the C syndrome or a new entity.
Addor et al. (1995) reported a 6-year-old girl with C-trigonocephaly syndrome and diaphragmatic hernia. Two other examples of this complication of the syndrome were included in their report. Their first patient showed retrognathia, high-arched palate, broad alveolar ridges, and abnormal oral frenula. Their other 2 cases showed similar orofacial findings.
Bohring et al. (2006) reported 4 additional unrelated cases of Bohring-Opitz syndrome with the highly characteristic phenotype of facial anomalies including bulging forehead, frontal nevus flammeus, retrognathia, exophthalmos, hypertelorism, upslanting palpebral fissures, and cleft/lip palate. All showed severe failure to thrive, lack of development, brain abnormalities, and flexion deformities of upper limbs. Other features included hirsutism and possible hearing loss. Bohring et al. (2006) provided a review of previously reported patients.
Pierron et al. (2009) reported a patient with Bohring-Opitz syndrome. At birth, she had a low weight, bitemporal narrowing, bulging forehead, facial hemangiomas, hypertelorism, broad nasal bridge, puffy cheeks, thick ear lobes, and high-arched palate. She also had articular instability of the elbows and left knee, flexion deformity of the wrists, camptodactyly, and dislocation of the radial head. Brain MRI showed hypoplasia of the corpus callosum and narrowed upper cervical canal due to malformation of the atlas. She had very poor feeding and failure to thrive. Later features included hirsutism, seizures, and an episode of prolonged apnea. At age 5 years 9 months, she had significant psychomotor retardation, but had gained weight. No mutation was found in the coding region of the CD96 gene.
Hoischen et al. (2011) reported 7 unrelated patients with Bohring-Opitz syndrome due to de novo heterozygous mutations in the ASXL1 gene (see MOLECULAR GENETICS). All patients fulfilled the main criteria proposed by Bohring et al. (2006). There were 6 females and 1 male, ranging in age from 2.5 to 24 years, although 2 died at ages 6 years and 23 hours after birth, respectively. The most common clinical features included intrauterine growth retardation, poor feeding, profound mental retardation, hypertrichosis, fixed contracture with flexion of the elbows and wrists, ulnar deviation of the wrists and metacarpophalangeal joints, hypotonia, dislocations, and brain anomalies. Craniofacial dysmorphisms were also characteristic and included trigonocephaly, microcephaly, micro/retrognathia, facial hemangioma, prominent eyes, broad alveolar ridges, low-set or posteriorly rotated ears, and myopia. Three had seizures, 3 had retinal or optic nerve abnormalities, 3 had a sacral dimple, 4 had recurrent infections, and 4 had deep palmar creases. Examination of 2 older patients, who were 14 and 24 years, suggested that the facial appearance and prominent eyes become less striking with age; the facial nevus may also fade. None had tumors.
Magini et al. (2012) reported 2 unrelated patients with Bohring-Opitz syndrome confirmed by molecular analysis. An affected girl was born with microcephaly and hypotonia. She had a typical facial appearance, including prominent forehead, facial nevus flammeus, exophthalmos, hypertelorism, low-set and posteriorly angulated ears, long philtrum, high and narrow palate, and everted lower lip. She also had elbow contractures, abnormal posture, and mild hirsutism. She later developed seizures, severe myopia, and showed failure to thrive. Brain MRI showed dilatation of lateral ventricles, mildly thin corpus callosum, and apparent moderate atrophy of the spinal cord. At age 3 years, she had mild hepatomegaly, thoracolumbar scoliosis, and severe psychomotor retardation with no language. A unrelated boy had trigonocephaly with partially fused metopic suture, facial capillary hemangioma, upslanting palpebral fissures, prominent eyes with hypoplastic supraorbital ridges, high and narrow palate, low-set ears, short neck, truncal hypotonia, scoliosis, marked hirsutism, cryptorchidism, and the typical BOS posture with contractures of the hips, knees, and ankles, as well as talovalgus deformity of the feet. He had feeding difficulties with failure to thrive, and myopia. Brain MRI showed enlarged cerebral ventricles, hypomyelination of the periventricular white matter, and a hypoplastic corpus callosum. At age 7 years, he had severely delayed global development with no speech. Hower, he had learned to communicate through images, letters, and signs, and seemed to enjoy social contacts.
### Clinical Variability
Osaki et al. (2006) reported a newborn male infant, one of dizygotic twins whose brother was phenotypically normal, who had many clinical manifestations similar to the C-like syndrome, including intrauterine growth retardation with failure to thrive, trigonocephaly involving the metopic suture, narrow forehead, optic nerve atrophy, high-arched palate, flexion deformity of the limbs, and hemangiomata. However, he lacked exophthalmos, which has been regarded as a hallmark of C-like syndrome. Osaki et al. (2006) suggested that the manifestations in this patient are an indication of overlap between C-like syndrome and C syndrome. In the patient reported by Osaki et al. (2006), Kaname et al. (2007) identified a heterozygous mutation in the CD96 gene (606037.0002), which is disrupted in C syndrome (211750). Kaname et al. (2007) noted that this patient had relatively severe features for C syndrome, but also stated that it was uncertain whether there is (1) a gradient of spectrum in the C syndrome, from the mild form (C syndrome) to the severe form (C-like syndrome), or (2) genetic heterogeneity among the patients with the C syndrome. Kaname et al. (2007) also found disruption of the CD96 gene in a patient with classic C syndrome and a balanced translocation (606037.0001), suggesting that CD96 mutations are associated with variable severity of that disorder.
Diagnosis
The observation of a common phenotype in Bohring-Opitz syndrome has led to the development of diagnostic criteria, including microcephaly, trigonocephaly, palatal abnormalities, prominent eyes and hypoplastic supraorbital ridges, upslanting palpebral fissures, depressed nasal bridge and anteverted nares, facial nevus flammeus, low-set, posteriorly angulated ears, failure to thrive, and severe developmental delay. In addition, patients have an unusual and characteristic limb posture, with external rotation and/or adduction of shoulders, flexion at elbows and wrists, and ulnar deviation of wrists and/or fingers at the metacarpophalangeal (MCP) joint (summary by Magini et al., 2012).
Inheritance
With few exceptions, Bohring-Opitz syndrome occurs as a sporadic disorder (Hoischen et al., 2011). Nakane et al. (2000), Lindor et al. (2000), and Brunner et al. (2000) reported further cases of Bohring-Opitz cases, all of which were sporadic.
Greenhalgh et al. (2003) described a brother and sister with Bohring-Opitz syndrome, suggesting the possibility of autosomal recessive inheritance.
Molecular Genetics
By exome sequencing in combination with direct sequencing, Hoischen et al. (2011) identified 7 different de novo heterozygous nonsense or truncating mutations in the ASXL1 gene (see, e.g., 612990.0001-612990.0005) in 7 of 13 unrelated patients with Bohring-Opitz syndrome. Six patients with the phenotype did not carry mutations, suggesting genetic heterogeneity. Hoischen et al. (2011) postulated a loss-of-function mechanism. The ASXL1 gene is involved in the maintenance of both activation and silencing of the HOX genes, which are involved in body patterning, as well as in chromatin remodeling, although the patients did not have any specific homeotic transformations.
In 2 unrelated patients with classic features of Bohring-Opitz syndrome, Magini et al. (2012) identified 2 different de novo heterozygous truncating mutations in the ASXL1 gene (612990.0006 and 612990.0007).
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature Other \- Intrauterine growth retardation \- Failure to thrive HEAD & NECK Head \- Trigonocephaly \- Microcephaly Face \- Micrognathia \- Prominent forehead \- Retrognathia \- Bitemporal narrowing \- Long face \- Facial hemangioma Ears \- Low-set ears \- Posteriorly rotated ears Eyes \- Prominent eyes \- Hypoplastic orbital ridges \- Hypertelorism \- Upslanting palpebral fissures \- Strabismus \- Myopia \- Retinal abnormalities \- Optic nerve abnormalities Nose \- Broad nasal bridge Mouth \- Narrow palate \- Broad alveolar ridges \- Cleft lip \- Cleft palate CARDIOVASCULAR Heart \- Ventricular septal defect \- Atrial septal defect CHEST Breasts \- Widely spaced nipples \- Supernumerary nipple ABDOMEN Pancreas \- Hyperechogenic pancreas Gastrointestinal \- Severe gastroesophageal reflux \- Malrotation \- Poor feeding GENITOURINARY Ureters \- Vesicoureteral reflux SKELETAL \- Contractures \- Dislocations Skull \- Prominent metopic ridge \- Hypoplastic orbital ridges Limbs \- Upper limb rhizomelia \- Unusual upper limb position (elbow and wrist flexion) \- Radial head dislocation \- Ulnar deviation of the wrists Hands \- Broad hands \- Deep palmar creases \- Syndactyly \- Tapered fingers \- Camptodactyly \- Ulnar deviation of the metacarpophalangeal joints Feet \- Deep plantar creases \- Short toes \- Overriding toes SKIN, NAILS, & HAIR Skin \- Sacral dimple \- Nevi flammei (philtrum, nape of neck, forehead) Hair \- Long hair \- Thick hair \- Hirsutism \- Low frontal hairline NEUROLOGIC Central Nervous System \- Developmental delay \- Mental retardation, profound \- Seizures \- Hypotonia \- Agenesis of the corpus callosum \- Hypoplastic corpus callosum \- Focal nodular heterotopia \- Small brainstem \- Dandy-Walker malformation Peripheral Nervous System \- Delayed myelination PRENATAL MANIFESTATIONS Amniotic Fluid \- Polyhydramnios MISCELLANEOUS \- All reported cases have occurred de novo \- Death often occurs in childhood MOLECULAR BASIS \- Caused by mutation in the additional sex combs-like 1 gene (ASXL1, 612990.0001 ) ▲ 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
|
BOHRING-OPITZ SYNDROME
|
c0796232
| 25,118 |
omim
|
https://www.omim.org/entry/605039
| 2019-09-22T16:11:36 |
{"mesh": ["C537419"], "omim": ["605039"], "orphanet": ["97297"], "synonyms": ["Alternative titles", "C-LIKE SYNDROME", "OPITZ TRIGONOCEPHALY-LIKE SYNDROME", "BOHRING SYNDROME"], "genereviews": ["NBK481833"]}
|
## Summary
### Clinical characteristics.
TRIO-related intellectual disability (ID) is characterized by delay in acquisition of motor and language skills, mild to borderline intellectual disability, and neurobehavioral problems (including autistic traits or autism spectrum disorder, attention-deficit/hyperactivity disorder, and/or aggression). Neonatal or infantile feeding difficulties including poor suck, impaired bottle feeding, and failure to thrive are common and are often the presenting finding. Other findings can include microcephaly, variable hand and dental abnormalities, and suggestive facial features. Only ten of the 20 individuals with a TRIO pathogenic variant reported to date had sufficient information to make preliminary generalizations about clinical manifestations; it is anticipated that the phenotype of this newly described disorder will continue to evolve.
### Diagnosis/testing.
The diagnosis of TRIO-related ID is established in a proband by identification of a heterozygous TRIO pathogenic variant on molecular genetic testing.
### Management.
Treatment of manifestations: Treatment is symptomatic and includes routine management of developmental delays / ID, social and behavior problems, feeding difficulty, and dental abnormalities.
Surveillance: Regular dietary evaluation in infancy to ensure optimal nutritional status; monitoring of developmental progress and educational needs; behavioral assessment for attention, aggression, and/or social communication difficulties; regular dental evaluations.
### Genetic counseling.
TRIO-related ID is inherited in an autosomal dominant manner. The majority of affected individuals have the disorder as the result of a de novo pathogenic variant; between 20% and 40% have inherited the TRIO pathogenic variant from a similarly affected parent. Each child of an individual with TRIO-related ID has a 50% chance of inheriting the TRIO pathogenic variant. Once the TRIO pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible.
## Diagnosis
No formal clinical diagnostic criteria for TRIO-related intellectual disability (ID) exist.
### Suggestive Findings
TRIO-related ID should be considered in individuals with the following clinical findings:
* Delayed speech and fine/gross motor development AND/OR mild (IQ 50-70) to borderline (IQ 70-85) ID; AND
* One or more of the following:
* Microcephaly; occipital-frontal circumference <2 SD
* Minor hand anomalies including short tapering fingers / brachydactyly, broad proximal interphalangeal joints, and clinodactyly of the fifth finger
* Dental anomalies including dental crowding and delayed or failed tooth eruption
* Facial features including facial asymmetry and/or micrognathia
Other, less specific features:
* Neonatal feeding problems that may persist into infancy
* Behavioral problems including autistic traits or autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and/or aggression
* Spinal deformities including scoliosis and/or kyphosis
### Establishing the Diagnosis
The diagnosis of TRIO-related ID is established in a proband by identification of a heterozygous pathogenic variant in TRIO on molecular genetic testing (see Table 1).
Molecular genetic testing approaches can include a combination of genomic testing (comprehensive genome sequencing) and gene-targeted testing (multigene panel or single-gene testing).
Gene-targeted testing requires the clinician to determine which gene(s) are likely involved, whereas genomic testing does not. As phenotypes of inherited intellectual disability often overlap, most individuals with TRIO-related ID are diagnosed by the following recommended testing or testing to consider.
#### Recommended Testing
A multigene panel that includes TRIO and other genes of interest (see Differential Diagnosis). 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. Of note, given the rarity of TRIO-related ID, many panels for intellectual disability may not include this gene.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
#### Testing to Consider
Comprehensive genome sequencing (when clinically available) including exome sequencing and genome sequencing. For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
Note: Single-gene testing (sequence analysis of TRIO, followed by gene-targeted deletion/duplication analysis) is rarely useful and typically NOT recommended.
### Table 1.
Molecular Genetic Testing Used in TRIO-Related Intellectual Disability
View in own window
Gene 1MethodProportion of Probands with a Pathogenic
Variant 2 Detectable by Method
TRIOSequence analysis 37/8 4 or 16/18 5
Gene-targeted deletion/duplication analysis 61/8 7 or 2/18 5
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. 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\.
Ba et al [2016], Pengelly et al [2016]
5\.
Proportions when including additional individuals in cohorts with ID or ASD found to have a de novo TRIO variant (presumed to be pathogenic due to their de novo occurrence and the relevant − though not sufficiently evaluated − clinical phenotype) [de Ligt et al 2012, O'Roak et al 2012, Sanders et al 2012, Allen et al 2013, De Rubeis et al 2014, Iossifov et al 2014, Fitzgerald et al 2015]. An additional individual with a de novo intragenic TRIO deletion was reported by the Deciphering Developmental Disorders Study [Fitzgerald et al 2015]. Note that individual #1 from Pengelly et al [2016] was also part of the Deciphering Developmental Disorders Study [Fitzgerald et al 2015].
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\.
Ba et al [2016]
## Clinical Characteristics
### Clinical Description
To date, TRIO-related intellectual disability (ID) has been diagnosed in 20 individuals with a de novo TRIO variant identified in several cohorts with ID or autism spectrum disorder (ASD) [de Ligt et al 2012, O'Roak et al 2012, Sanders et al 2012, Allen et al 2013, De Rubeis et al 2014, Iossifov et al 2014, Fitzgerald et al 2015, Ba et al 2016, Pengelly et al 2016]. While the occurrence of a TRIO de novo variant in an individual with ID/ASD would suggest pathogenicity, it is important to consider that because the phenotypic description of TRIO-related ID is incomplete to date, de novo occurrence alone is not sufficient to conclude that a variant is pathogenic [Richards et al 2015].
In ten of these 20 individuals (including the oldest, age 36 years) clinical information was sufficient to make preliminary generalizations about the phenotype. Characteristic findings are developmental delay, mild to borderline ID, and neurobehavioral problems as well as microcephaly, variable hand and dental abnormalities, and suggestive facial features. Nonetheless, a subset of these ten individuals for whom detailed phenotypic information is available do not have obvious clinical findings; thus, TRIO-related ID cannot consistently be identified (or even suspected) by clinical findings alone.
Developmental delay and intellectual disability. All ten individuals had delay in attainment of both motor and speech milestones.
Nine of the ten individuals are verbal; in the most severely affected individuals, first words emerged between ages three and five years. The one nonverbal child relied on alternative forms of communication at age nine years.
Four of the ten individuals had motor delay: sitting unsupported between age nine and 11 months, and walking unaided between age 17 months and four to five years [Pengelly et al 2016].
Eight of the ten clinically well-characterized individuals have mild ID; the other two appear to be functioning at the borderline/normal range of intellectual ability. Individuals in the latter group have experienced delays in language attainment as well as learning difficulties necessitating a specialized school environment. Of note, some individuals have been ascertained only following investigation of a more severely affected family member.
A few older individuals with TRIO-related ID had significant/severe speech delay including the following:
* Individual 1 [Ba et al 2016]. Able to speak five or six words at age seven years
* Individual 5 [Pengelly et al 2016]. First words spoken at age four or five years
* Individual 6 [Pengelly et al 2016]. Nonverbal at age nine years
Behavioral phenotype. Behavioral problems reported in seven of ten of the individuals for whom sufficient clinical information exists include ASD, ADHD, stereotypies, obsessive-compulsive behavior, aggressiveness, self-mutilation, and disrupted sleep.
Of note, no information on the specific behavioral phenotype is available for the individuals with TRIO-related ID who were reported in the context of large ASD cohorts [O'Roak et al 2012, De Rubeis et al 2014, Iossifov et al 2014].
Head size as determined by occipital-frontal circumference (OFC). Microcephaly (<-2 SD) has been observed in seven of ten individuals, five of whom had an OFC 5 SD below the age-appropriate mean, indicating that significant microcephaly may be part of the phenotype.
A few affected individuals have had head measurements within the normal range [Ba et al 2016] or even in the high percentiles [Pengelly et al 2016]. While data are lacking regarding the onset of microcephaly, postnatal onset was reported in one individual [Fitzgerald et al 2015].
Minor hand anomalies. Short tapering fingers with broad proximal interphalangeal joints have been noted in the majority of affected individuals. Other, rarer features may include fifth-finger clinodactyly or appearance of a short palm.
Dental anomalies are dental crowding (4/10 individuals) and delayed or failed tooth eruption (2 additional individuals).
Facial gestalt. There appears to be no recognizable facial gestalt. A significant subset of affected individuals show facial asymmetry (5/10) as well as micrognathia (5/10). Other features include a high forehead (3/10) and synophrys (3/10).
Neonatal or infantile feeding difficulties including poor suck, impaired bottle feeding, and failure to thrive are common and are often the presenting findings, similar to what can be observed in other causes of developmental delay and/or ID. Gastrostomy tube feeding has been required in at least one child.
Spine abnormalities (5/10) are mainly mild scoliosis (3/10) and kyphosis (2/10).
The following features have been observed in fewer individuals:
* Syndactyly of the second and third toes (3/10)
* Recurrent infections (3/10)
* Constipation (2/10)
* Urinary incontinence (2/10)
Other anomalies, each reported in one individual, include:
* Congenital ptosis
* Amblyopia and strabismus
* Hypercalcemia
* Epilepsy
* Tremor
* Wide-based ataxic gait
* Pectus excavatum
Individuals with a de novo presumably pathogenic TRIO variant ascertained from large ID/ASD cohorts. A few of these 11 less well-characterized individuals may have a more severe or complex phenotype as a result of other concomitant genetic findings including single-nucleotide variants or copy-number variants elsewhere in their genome [de Ligt et al 2012, Allen et al 2013, Pengelly et al 2016].
### Genotype-Phenotype Correlations
To date the number of published cases (i.e., 10) with detailed genotypic and phenotypic information is insufficient to identify a genotype-phenotype correlation based on the type of TRIO pathogenic variant or the domain of the protein affected.
### Penetrance
Information available is insufficient to allow conclusions regarding the penetrance of TRIO pathogenic variants. Based on the family reported by Pengelly et al [2016], some degree of intrafamilial clinical variability can be seen. Variable expressivity may lead to underascertainment of mildly affected individuals and possibly explain the presence (on rare occasions) of individuals harboring presumably pathogenic variants in TRIO in control population-based cohorts such as the Exome Aggregation Consortium (ExAC) [Lek et al 2016].
### Prevalence
In the following three studies, TRIO-related ID accounted for seven individuals with ID and/or ASD:
* Three of more than 2,300 individuals with ID had a pathogenic loss-of-function TRIO variant identified by targeted sequencing [Ba et al 2016].
* Three of 1,133 children with severe, undiagnosed developmental disorders had a de novo TRIO pathogenic variant [Fitzgerald et al 2015].
* One of 209 children with ASD who were simplex cases (i.e., a single occurrence in the family) and in whom initial investigation had excluded the presence of large de novo copy number variants had a de novo TRIO pathogenic variant [O'Roak et al 2012].
The prevalence of TRIO-related ID may, however, be difficult to establish given the underascertainment of less severely affected individuals, the ascertainment bias for individuals heterozygous for a de novo or loss-of-function variant, and the genetic testing used to exclude individuals with a known diagnosis from the ID/ASD cohorts studied for TRIO variants.
## Differential Diagnosis
Developmental delay, intellectual disability (ID), and/or autism spectrum disorder (ASD) and microcephaly are among the major features in TRIO-related ID for which affected individuals may be referred for genetic evaluation. Phenotypic features associated with TRIO pathogenic variants are not sufficient to diagnose TRIO-related ID.
All genes known to be associated with nonsyndromic intellectual disability (~150 genes have been identified, see OMIM Phenotypic Series: Intellectual disability, autosomal dominant; Intellectual disability, autosomal recessive; and Intellectual disability, nonsyndromic, X-linked) should be included in the differential diagnosis of TRIO-related ID.
Diagnoses that could, however, be considered in individuals with findings suggestive of TRIO-related ID:
* Angelman syndrome (AS), caused by disruption of maternally imprinted UBE3A. Developmental delay and microcephaly are common in AS. One individual with TRIO-related ID had significant motor and language delays and was nonverbal at age nine years; in addition, he had gait anomalies, nocturnal seizures, and facial features reminiscent of AS [Pengelly et al 2016]. However, in TRIO-related ID the degree of developmental delay and ID is usually milder than in AS and seizures are not common, having been reported in only two individuals to date [Allen et al 2013, Pengelly et al 2016].
* MECP2-related disorders, inherited in an X-linked manner. Overlapping features between TRIO-related ID and MECP2-related disorders include developmental delay, microcephaly, and behavioral abnormalities including autistic traits and/or stereotypic behavior and feeding difficulties. The degree of delay is, however, usually less severe in TRIO-related ID, and developmental regression, which is observed in classic Rett syndrome, has not been described to date.
* Pitt-Hopkins syndrome (PTHS), caused by haploinsufficiency of TCF4. Overlapping features include developmental delay and microcephaly. Seizures (although rare in TRIO-related ID) may be part of both disorders. One reported individual with severe ID harbored presumably pathogenic de novo variants in both TCF4 and TRIO, and although his phenotype was considered more compatible with PTHS, the authors debated the phenotypic contribution of the TRIO variants [de Ligt et al 2012]. Episodic hyperventilation has not been described to date in individuals with TRIO-related ID.
## Management
### Evaluations and Referrals Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with TRIO-related intellectual disability (ID), the evaluations and referrals summarized in Table 2 are recommended.
Note: Some evaluations are age dependent and may not be relevant at the time of initial diagnosis (e.g., recommendation for traits suggestive of an autism spectrum disorder in an infant).
### Table 2.
Recommended Evaluations Following Initial Diagnosis of TRIO-Related Intellectual Disability
View in own window
System/ConcernEvaluationComment
GrowthAssessment of growth parameters to identify those w/failure to thrive
ENT / MouthEvaluation for dental crowding &/or failed/delayed tooth eruptionConsider referral to dentist or orthodontist.
Gastroenterology/
FeedingAssessment for feeding problems, incl difficulty w/sucking/swallowing, GERD, constipationRefer to feeding therapist if feeding problems are identified.
MusculoskeletalClinical evaluation for scoliosis &/or kyphosisRadiographic scoliosis survey (x-rays of spine) based on clinical suspicion; consider referral to orthopedic surgeon if scoliosis is present.
Psychiatric/
BehavioralIn individuals age >12 mos: clinical screening for attention/ concentration problems, aggression, &/or traits suggestive of an ASDConsider referral for formal testing, incl Autism Diagnostic Interview & Autism Diagnostic Observation Schedule.
OtherMultidisciplinary developmental evaluation incl motor, speech/language evaluation, general cognitive & vocational skillsRefer to developmental pediatrician and/or developmental psychologist.
Review of medical history for recurrent infectionsIf present, consider referral to immunologist.
Consultation w/clinical geneticist &/or genetic counselor
ASD = autism spectrum disorder; GERD = gastroesophageal reflux disease
### Treatment of Manifestations
See Table 3.
### Table 3.
Treatment of Manifestations in Individuals with TRIO-Related Intellectual Disability
View in own window
Manifestation/ConcernTreatmentConsiderations/Other
Dental crowding /
MalocclusionStandard treatment as recommended by dentist/orthodontist
Poor weight gain / Failure to thriveFeeding therapy; gastrostomy tube placement may be required for persistent feeding issues.Dietary diary & calorie counts may be requested.
GERD and/or constipationStandard treatment(s)
SeizuresStandard treatment(s) as recommended by neurologist
Scoliosis/KyphosisStandard treatment as recommended by orthopedist
GERD = gastroesophageal reflux disease
#### Developmental Delay / Intellectual Disability Management Issues
The following information represents typical management recommendations for individuals with developmental delay / intellectual disability in the United States; standard recommendations may vary from country to country.
Ages 0-3 years. Referral to an early intervention program is recommended for access to occupational, physical, speech, and feeding therapy. In the US, early intervention is a nationwide federally funded program available in all states.
Ages 3-5 years. In the US, developmental preschool through the local public school district may be considered. An evaluation will occur before placement to determine needed services and therapies and will be subsequently written into an individualized education plan (IEP).
Ages 5-21 years
* In the US, an IEP based on the individual's level of function can be developed by the local public school district. Severely affected children are permitted to remain in the public school district until age 21.
* Discussion about transition plans including financial, vocation/employment, and medical arrangements should begin at age 12 years. Developmental pediatricians can provide assistance with transition to adulthood.
All ages. Consultation with a developmental pediatrician is recommended to ensure that appropriate community, state, and educational agencies are involved and to support parents.
Consideration of private supportive therapies based on the affected individual's needs is recommended. Specific recommendations regarding type of therapy can be made by a developmental pediatrician.
In the US:
* Developmental Disabilities Administration (DDA) enrollment is recommended. DDA is a public agency that provides services and support to qualified individuals. Eligibility differs by state but is typically determined by diagnosis and/or associated cognitive/adaptive disabilities.
* Families with limited income and resources may also qualify for supplemental security income (SSI) for their child with a disability.
#### Motor Dysfunction
Gross motor dysfunction
* Physical therapy is recommended to maximize mobility.
* Consider use of durable medical equipment as needed (e.g., orthotics, adaptive strollers).
Fine motor dysfunction. Occupational therapy is recommended for difficulty with fine motor skills that affect adaptive function such as feeding, grooming, dressing, and writing.
Oral motor dysfunction. Feeding therapy, typically from an occupational or speech therapist, is recommended for affected individuals who have difficulty feeding due to poor oral motor control, assuming the individual is safe to eat by mouth.
Communication issues. Consider evaluation for alternative means of communication (e.g., Augmentative and Alternative Communication) for individuals who have expressive language difficulties.
#### Social/Behavioral Concerns
Children may qualify for and benefit from interventions used in treatment of autism spectrum disorder, including applied behavior analysis (ABA). ABA therapy is targeted to the individual child's behavioral, social, and adaptive strengths and weaknesses and is typically performed one on one with a board-certified behavior analyst. Effectiveness should be evaluated on an individual basis.
Consultation with a developmental pediatrician may be helpful in guiding parents through appropriate behavior management strategies or providing prescription medications (e.g., to treat attention-deficit/hyperactivity disorder) when necessary.
Concerns about serious aggressive or destructive behavior can be addressed by a pediatric psychiatrist.
### Surveillance
The following are appropriate:
* Regular dietary evaluation in infancy to ensure optimal nutritional status
* Monitoring of developmental progress and educational needs
* Behavioral assessment for attention, aggression, and/or social communication difficulties
* Monitoring for spine deformities beginning in early childhood
* Regular evaluation of teeth; frequency determined by a dentist based on dental condition
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
TRIO-Related Intellectual Disability
|
None
| 25,119 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK447257/
| 2021-01-18T20:53:13 |
{"synonyms": []}
|
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Greater trochanteric pain syndrome" – news · newspapers · books · scholar · JSTOR (September 2017)
Greater trochanteric pain syndrome
Other namesTrochanteric bursitis
Greater trochanteric pain syndrome (GTPS), is inflammation of the trochanteric bursa, a part of the hip.
This bursa is at the top, outer side of the femur, between the insertion of the gluteus medius and gluteus minimus muscles into the greater trochanter of the femur and the femoral shaft. It has the function, in common with other bursae, of working as a shock absorber and as a lubricant for the movement of the muscles adjacent to it.[citation needed]
Occasionally, this bursa can become inflamed and clinically painful and tender. This condition can be a manifestation of an injury (often resulting from a twisting motion or from overuse), but sometimes arises for no obviously definable cause. The symptoms are pain in the hip region on walking, and tenderness over the upper part of the femur, which may result in the inability to lie in comfort on the affected side.[citation needed]
More often the lateral hip pain is caused by disease of the gluteal tendons that secondarily inflames the bursa. This is most common in middle-aged women and is associated with a chronic and debilitating pain which does not respond to conservative treatment. Other causes of trochanteric bursitis include uneven leg length, iliotibial band syndrome, and weakness of the hip abductor muscles.[1]
Greater trochanteric pain syndrome can remain incorrectly diagnosed for years, because it shares the same pattern of pain with many other musculoskeletal conditions. Thus people with this condition may be labeled malingerers, or may undergo many ineffective treatments due to misdiagnosis.[2] It may also coexist with low back pain, arthritis, and obesity.[3]
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 3 Prevention
* 4 Treatment
* 5 See also
* 6 References
* 7 External links
## Signs and symptoms[edit]
The primary symptom is hip pain, especially hip pain on the outer (lateral) side of the joint. This pain may appear when the affected person is walking or lying down on that side.[citation needed]
## Diagnosis[edit]
A doctor may begin the diagnosis by asking the patient to stand on one leg and then the other, while observing the effect on the position of the hips. Palpating the hip and leg may reveal the location of the pain, and range-of-motion tests can help to identify its source.[citation needed]
X-rays, ultrasound and magnetic resonance imaging may reveal tears or swelling. But often these imaging tests do not reveal any obvious abnormality in patients with documented GTPS.[2]
## Prevention[edit]
Because wear on the hip joint traces to the structures that support it (the posture of the legs, and ultimately, the feet), proper fitting shoes with adequate support are important to preventing GTPS. For someone who has flat feet, wearing proper orthotic inserts and replacing them as often as recommended are also important preventive measures.[citation needed]
Strength in the core and legs is also important to posture, so physical training also helps to prevent GTPS. But it is equally important to avoid exercises that damage the hip.[4]
## Treatment[edit]
The primary treatment is rest. This does not mean bed rest or immobilizing the area but avoiding actions which result in aggravation of the pain. Icing the joint may help. A non-steroidal anti-inflammatory drug may relieve pain and reduce the inflammation. If these are ineffective, the definitive treatment is steroid injection into the inflamed area.
Physical therapy to strengthen the hip muscles and stretch the iliotibial band can relieve tension in the hip and reduce friction. The use of point ultrasound may be helpful, and is undergoing clinical trials.[5]
In extreme cases, where the pain does not improve after physical therapy, cortisone shots, and anti-inflammatory medication, the inflamed bursa can be removed surgically. The procedure is known as a bursectomy. Tears in the muscles may also be repaired, and loose material from arthritic degeneration of the hip removed.[4] (At the time of bursal surgery, a very close examination of the gluteal tendons will reveal sometimes subtle and sometimes very obvious degeneration and detachment of the gluteal tendons. If this detachment is not repaired, removal of the bursa alone will make little or no difference to the symptoms.[citation needed])
The bursa is not required, so the main potential complication is potential reaction to anaesthetic. The surgery can be performed arthroscopically and, consequently, on an outpatient basis. Patients often have to use crutches for a few days following surgery up to a few weeks for more involved procedures.[citation needed]
There are numerous case reports in which surgery has relieved GTPS, but its effectiveness is not documented in clinical trials.[3]
## See also[edit]
* Snapping hip syndrome
## References[edit]
1. ^ Trochanteric Bursitis at eMedicine
2. ^ a b Dougherty C, Dougherty JJ (August 27, 2008). "Evaluating hip pathology in trochanteric pain syndrome". The Journal of Musculoskeletal Medicine.
3. ^ a b Williams BS, Cohen SP (2009). "Greater Trochanteric Pain Syndrome: A Review of Anatomy, Diagnosis and Treatment". Anesthesia & Analgesia. 108 (5): 1662–1670. doi:10.1213/ane.0b013e31819d6562. PMID 19372352. S2CID 5521326.
4. ^ a b Dougherty C, Dougherty JJ (November 1, 2008). "Managing and preventing hip pathology in trochanteric pain syndrome". Cite journal requires `|journal=` (help)
5. ^ Clinical trial number NCT01642043 for "Point-of-Care Ultrasound in Greater Trochanteric Pain Syndrome" at ClinicalTrials.gov
## External links[edit]
Classification
D
* ICD-10: M70.6
* ICD-9-CM: 726.5
* v
* t
* e
Soft tissue disorders
Capsular joint
Synoviopathy
* Synovitis/Tenosynovitis
* Calcific tendinitis
* Stenosing tenosynovitis
* Trigger finger
* De Quervain syndrome
* Transient synovitis
* Ganglion cyst
* osteochondromatosis
* Synovial osteochondromatosis
* Plica syndrome
* villonodular synovitis
* Giant-cell tumor of the tendon sheath
Bursopathy
* Bursitis
* Olecranon
* Prepatellar
* Trochanteric
* Subacromial
* Achilles
* Retrocalcaneal
* Ischial
* Iliopsoas
* Synovial cyst
* Baker's cyst
* Calcific bursitis
Noncapsular joint
Symptoms
* Ligamentous laxity
* Hypermobility
Enthesopathy/Enthesitis/Tendinopathy
upper limb
* Adhesive capsulitis of shoulder
* Impingement syndrome
* Rotator cuff tear
* Golfer's elbow
* Tennis elbow
lower limb
* Iliotibial band syndrome
* Patellar tendinitis
* Achilles tendinitis
* Calcaneal spur
* Metatarsalgia
* Bone spur
other/general:
* Tendinitis/Tendinosis
Nonjoint
Fasciopathy
* Fasciitis: Plantar
* Nodular
* Necrotizing
* Eosinophilic
Fibromatosis/contracture
* Dupuytren's contracture
* Plantar fibromatosis
* Aggressive fibromatosis
* Knuckle pads
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Greater trochanteric pain syndrome
|
c0151451
| 25,120 |
wikipedia
|
https://en.wikipedia.org/wiki/Greater_trochanteric_pain_syndrome
| 2021-01-18T18:49:58 |
{"umls": ["C0151451"], "icd-9": ["726.5"], "icd-10": ["M70.6"], "wikidata": ["Q2928621"]}
|
Congenital heart block (CHB) is a rare disorder of atrioventricular conduction, characterized by absence of conduction of atrial impulses to the ventricles with slower ventricular rhythm (atrioventricular dissociation). CHB can occur in association with immunological evidence of maternal connective disease (autoimmune CHD), fetal structural CHD or can be idiopathic.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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 heart block
|
c0149530
| 25,121 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=60041
| 2021-01-23T17:10:58 |
{"gard": ["6164"], "mesh": ["C535758"], "omim": ["234700"], "umls": ["C0149530", "C3884338"], "icd-10": ["Q24.6"], "synonyms": ["Congenital atrioventricular block"]}
|
Toxic effects of carbon monoxide
Carbon monoxide poisoning
Other namesCarbon monoxide intoxication, carbon monoxide toxicity, carbon monoxide overdose
Carbon monoxide
SpecialtyToxicology, emergency medicine
SymptomsHeadache, dizziness, weakness, vomiting, chest pain, confusion[1]
ComplicationsLoss of consciousness, arrhythmias, seizures[1][2]
CausesBreathing in carbon monoxide[3]
Diagnostic methodCarboxyl-hemoglobin level:
3% (nonsmokers)
10% (smokers)[2]
Differential diagnosisCyanide toxicity, alcoholic ketoacidosis, aspirin poisoning, upper respiratory tract infection[2][4]
PreventionCarbon monoxide detectors, venting of gas appliances, maintenance of exhaust systems[1]
TreatmentSupportive care, 100% oxygen, hyperbaric oxygen therapy[2]
PrognosisRisk of death 1–31%.[2]
Frequency>20,000 emergency visits for non-fire related cases per year (US)[1]
Deaths>400 non-fire related a year (US)[1]
Carbon monoxide poisoning typically occurs from breathing in carbon monoxide (CO) at excessive levels.[3] Symptoms are often described as "flu-like" and commonly include headache, dizziness, weakness, vomiting, chest pain, and confusion.[1] Large exposures can result in loss of consciousness, arrhythmias, seizures, or death.[1][2] The classically described "cherry red skin" rarely occurs.[2] Long-term complications may include feeling tired, trouble with memory, and movement problems.[5] In those exposed to smoke, cyanide toxicity should also be considered.[2]
Carbon monoxide poisoning can occur accidentally, as an attempt to end one's own life, or as an attempt to end another's life.[6][7] CO is a colorless and odorless gas which is initially non-irritating.[5] It is produced during incomplete burning of organic matter.[5] This can occur from motor vehicles, heaters, or cooking equipment that run on carbon-based fuels.[1] It can also occur from exposure to methylene chloride.[8] Carbon monoxide primarily causes adverse effects by combining with hemoglobin to form carboxyhemoglobin (HbCO) preventing the blood from carrying oxygen.[5] Additionally, myoglobin and mitochondrial cytochrome oxidase are affected.[2] Diagnosis is based on a HbCO level of more than 3% among nonsmokers and more than 10% among smokers.[2]
Efforts to prevent poisoning include carbon monoxide detectors, proper venting of gas appliances, keeping chimneys clean, and keeping exhaust systems of vehicles in good repair.[1] Treatment of poisoning generally consists of giving 100% oxygen along with supportive care.[2][5] This should generally be carried out until symptoms are no longer present and the HbCO level is less than 10%.[2] While hyperbaric oxygen therapy is used for severe poisonings, the benefit over standard oxygen delivery is unclear.[2][6] The risk of death among those affected is between 1 and 30%.[2]
Carbon monoxide poisoning is relatively common, resulting in more than 20,000 emergency room visits a year in the United States.[1][9] It is the most common type of fatal poisoning in many countries.[10] In the United States, non-fire related cases result in more than 400 deaths a year.[1] Poisonings occur more often in the winter, particularly from the use of portable generators during power outages.[2][8] The toxic effects of CO have been known since ancient history.[11] The discovery that hemoglobin is affected by CO was made in 1857.[11]
## Contents
* 1 Signs and symptoms
* 1.1 Acute poisoning
* 1.2 Chronic poisoning
* 2 Causes
* 3 Pathophysiology
* 3.1 Hemoglobin
* 3.2 Myoglobin
* 3.3 Cytochrome oxidase
* 3.4 Central nervous system effects
* 3.5 Pregnancy
* 4 Diagnosis
* 4.1 Measuring
* 4.2 Differential diagnosis
* 5 Prevention
* 5.1 Detectors
* 5.2 Legal requirements
* 5.3 World Health Organization recommendations
* 6 Treatment
* 6.1 Hyperbaric oxygen
* 6.2 Other
* 7 Epidemiology
* 8 History
* 9 Research
* 10 References
* 11 External links
## Signs and symptoms[edit]
Carbon monoxide is not toxic to all forms of life. Its harmful effects are due to binding with hemoglobin so its danger to organisms that do not use this compound is doubtful. It thus has no effect on photosynthesising plants.[12] It is easily absorbed through the lungs.[13] Inhaling the gas can lead to hypoxic injury, nervous system damage, and even death. Different people and populations may have different carbon monoxide tolerance levels.[14] On average, exposures at 100 ppm or greater is dangerous to human health.[15] In the United States, the OSHA limits long-term workplace exposure levels to less than 50 ppm averaged over an 8-hour period;[16][17] in addition, employees are to be removed from any confined space if an upper limit ("ceiling") of 100 ppm is reached.[18] Carbon monoxide exposure may lead to a significantly shorter life span due to heart damage.[19] The carbon monoxide tolerance level for any person is altered by several factors, including activity level, rate of ventilation, a pre-existing cerebral or cardiovascular disease, cardiac output, anemia, sickle cell disease and other hematological disorders, barometric pressure, and metabolic rate.[20][21][22]
Effects of carbon monoxide in relation to the concentration in parts per million in the air:[23][24] Concentration Symptoms
35 ppm (0.0035%), (0.035‰) Headache and dizziness within six to eight hours of constant exposure
100 ppm (0.01%), (0.1‰) Slight headache in two to three hours
200 ppm (0.02%), (0.2‰) Slight headache within two to three hours; loss of judgment
400 ppm (0.04%), (0.4‰) Frontal headache within one to two hours
800 ppm (0.08%), (0.8‰) Dizziness, nausea, and convulsions within 45 min; insensible within 2 hours
1,600 ppm (0.16%), (1.6‰) Headache, increased heart rate, dizziness, and nausea within 20 min; death in less than 2 hours
3,200 ppm (0.32%), (3.2‰) Headache, dizziness and nausea in five to ten minutes. Death within 30 minutes.
6,400 ppm (0.64%), (6.4‰) Headache and dizziness in one to two minutes. Convulsions, respiratory arrest, and death in less than 20 minutes.
12,800 ppm (1.28%), (12.8‰) Unconsciousness after 2–3 breaths. Death in less than three minutes.
### Acute poisoning[edit]
CO toxicity symptoms
The main manifestations of carbon monoxide poisoning develop in the organ systems most dependent on oxygen use, the central nervous system and the heart.[16] The initial symptoms of acute carbon monoxide poisoning include headache, nausea, malaise, and fatigue.[25] These symptoms are often mistaken for a virus such as influenza or other illnesses such as food poisoning or gastroenteritis.[26] Headache is the most common symptom of acute carbon monoxide poisoning; it is often described as dull, frontal, and continuous.[27] Increasing exposure produces cardiac abnormalities including fast heart rate, low blood pressure, and cardiac arrhythmia;[28][29] central nervous system symptoms include delirium, hallucinations, dizziness, unsteady gait, confusion, seizures, central nervous system depression, unconsciousness, respiratory arrest, and death.[30][31] Less common symptoms of acute carbon monoxide poisoning include myocardial ischemia, atrial fibrillation, pneumonia, pulmonary edema, high blood sugar, lactic acidosis, muscle necrosis, acute kidney failure, skin lesions, and visual and auditory problems.[28][32][33][34]
One of the major concerns following acute carbon monoxide poisoning is the severe delayed neurological manifestations that may occur. Problems may include difficulty with higher intellectual functions, short-term memory loss, dementia, amnesia, psychosis, irritability, a strange gait, speech disturbances, Parkinson's disease-like syndromes, cortical blindness, and a depressed mood.[26][35] Depression may occur in those who did not have pre-existing depression.[36] These delayed neurological sequelae may occur in up to 50% of poisoned people after 2 to 40 days.[26] It is difficult to predict who will develop delayed sequelae; however, advanced age, loss of consciousness while poisoned, and initial neurological abnormalities may increase the chance of developing delayed symptoms.[37]
One classic sign of carbon monoxide poisoning is more often seen in the dead rather than the living – people have been described as looking red-cheeked and healthy (see below). However, since this "cherry-red" appearance is more common in the dead, it is not considered a useful diagnostic sign in clinical medicine. In autopsy examinations, the ruddy appearance of carbon monoxide poisoning is notable because unembalmed dead persons are normally bluish and pale, whereas dead carbon-monoxide poisoned people may appear unusually lifelike in coloration.[38][39][40] The colorant effect of carbon monoxide in such postmortem circumstances is thus analogous to its use as a red colorant in the commercial meat-packing industry.
### Chronic poisoning[edit]
Chronic exposure to relatively low levels of carbon monoxide may cause persistent headaches, lightheadedness, depression, confusion, memory loss, nausea, hearing disorders and vomiting.[41][42] It is unknown whether low-level chronic exposure may cause permanent neurological damage.[26] Typically, upon removal from exposure to carbon monoxide, symptoms usually resolve themselves, unless there has been an episode of severe acute poisoning.[41] However, one case noted permanent memory loss and learning problems after a three-year exposure to relatively low levels of carbon monoxide from a faulty furnace.[43] Chronic exposure may worsen cardiovascular symptoms in some people.[41] Chronic carbon monoxide exposure might increase the risk of developing atherosclerosis.[44][45] Long-term exposures to carbon monoxide present the greatest risk to persons with coronary heart disease and in females who are pregnant.[46] In experimental animals, carbon monoxide appears to worsen noise-induced hearing loss at noise exposure conditions that would have limited effects on hearing otherwise.[47] In humans, hearing loss has been reported following carbon monoxide poisoning.[42] Unlike the findings in animal studies, noise exposure was not a necessary factor for the auditory problems to occur.
## Causes[edit]
Concentration Source
0.1 ppm Natural atmosphere level (MOPITT)[48]
0.5 to 5 ppm Average level in homes[49]
5 to 15 ppm Near properly adjusted gas stoves in homes[49]
100 to 200 ppm Exhaust from automobiles in the Mexico City central area[50]
5,000 ppm Exhaust from a home wood fire[51]
7,000 ppm Undiluted warm car exhaust without a catalytic converter[51]
30,000 ppm Afterdamp following an explosion in a coal mine[52]
Carbon monoxide is a product of combustion of organic matter under conditions of restricted oxygen supply, which prevents complete oxidation to carbon dioxide (CO2). Sources of carbon monoxide include cigarette smoke, house fires, faulty furnaces, heaters, wood-burning stoves,[53] internal combustion vehicle exhaust, electrical generators, propane-fueled equipment such as portable stoves, and gasoline-powered tools such as leaf blowers, lawn mowers, high-pressure washers, concrete cutting saws, power trowels, and welders.[26][41][54][55][56][57][58] Exposure typically occurs when equipment is used in buildings or semi-enclosed spaces.[26]
Riding in the back of pickup trucks has led to poisoning in children.[59] Idling automobiles with the exhaust pipe blocked by snow has led to the poisoning of car occupants.[60] Any perforation between the exhaust manifold and shroud can result in exhaust gases reaching the cabin. Generators and propulsion engines on boats, especially houseboats, has resulted in fatal carbon monoxide exposures.[61][62]
Poisoning may also occur following the use of a self-contained underwater breathing apparatus (SCUBA) due to faulty diving air compressors.[63]
In caves carbon monoxide can build up in enclosed chambers due to the presence of decomposing organic matter.[64] In coal mines incomplete combustion may occur during explosions resulting in the production of afterdamp. The gas is up to 3% CO and may be fatal after just a single breath.[52] Following an explosion in a colliery, adjacent interconnected mines may become dangerous due to the afterdamp leaking from mine to mine. Such an incident followed the Trimdon Grange explosion which killed men in the Kelloe mine.[65]
Another source of poisoning is exposure to the organic solvent dichloromethane, also known as methylene chloride, found in some paint strippers,[66] as the metabolism of dichloromethane produces carbon monoxide.[67][68][69] In November 2019, an EPA ban on dichloromethane in paint strippers for consumer use took effect in the United States.[70]
## Pathophysiology[edit]
The precise mechanisms by which the effects of carbon monoxide are induced upon bodily systems, are complex and not yet fully understood.[25] Known mechanisms include carbon monoxide binding to hemoglobin, myoglobin and mitochondrial cytochrome c oxidase and restricting oxygen supply, and carbon monoxide causing brain lipid peroxidation.[30][38][71]
### Hemoglobin[edit]
Carbon monoxide shifts the oxygen-dissociation curve to the left.
Carbon monoxide has a higher diffusion coefficient compared to oxygen, and the only enzyme in the human body that produces carbon monoxide is heme oxygenase, which is located in all cells and breaks down heme. Under normal conditions, carbon monoxide levels in the plasma are approximately 0 mmHg because it has a higher diffusion coefficient and the body easily gets rid of any CO made.[72] When CO is not ventilated it binds to hemoglobin, which is the principal oxygen-carrying compound in blood; this produces a compound known as carboxyhemoglobin. The traditional understanding is that carbon monoxide toxicity arises from the formation of carboxyhemoglobin, which decreases the oxygen-carrying capacity of the blood and inhibits the transport, delivery, and utilization of oxygen by the body. The affinity between hemoglobin and carbon monoxide is approximately 230 times stronger than the affinity between hemoglobin and oxygen so hemoglobin binds to carbon monoxide in preference to oxygen.[38][73][74]
Hemoglobin is a tetramer with four oxygen binding sites. The binding of carbon monoxide at one of these sites increases the oxygen affinity of the remaining three sites, which causes the hemoglobin molecule to retain oxygen that would otherwise be delivered to the tissue.[71] This situation is described as carbon monoxide shifting the oxygen dissociation curve to the left.[38] Because of the increased affinity between hemoglobin and oxygen during carbon monoxide poisoning, little oxygen will actually be released in the tissues. This causes hypoxic tissue injury.[26] Hemoglobin acquires a bright red color when converted into carboxyhemoglobin, so poisoned cadavers and even commercial meats treated with carbon monoxide acquire an unnatural reddish hue.
### Myoglobin[edit]
Carbon monoxide also binds to the hemeprotein myoglobin. It has a high affinity for myoglobin, about 60 times greater than that of oxygen.[26] Carbon monoxide bound to myoglobin may impair its ability to utilize oxygen.[38] This causes reduced cardiac output and hypotension, which may result in brain ischemia.[26] A delayed return of symptoms have been reported. This results following a recurrence of increased carboxyhemoglobin levels; this effect may be due to a late release of carbon monoxide from myoglobin, which subsequently binds to hemoglobin.[10]
### Cytochrome oxidase[edit]
Another mechanism involves effects on the mitochondrial respiratory enzyme chain that is responsible for effective tissue utilization of oxygen. Carbon monoxide binds to cytochrome oxidase with less affinity than oxygen, so it is possible that it requires significant intracellular hypoxia before binding.[75] This binding interferes with aerobic metabolism and efficient adenosine triphosphate synthesis. Cells respond by switching to anaerobic metabolism, causing anoxia, lactic acidosis, and eventual cell death.[76] The rate of dissociation between carbon monoxide and cytochrome oxidase is slow, causing a relatively prolonged impairment of oxidative metabolism.[25]
### Central nervous system effects[edit]
The mechanism that is thought to have a significant influence on delayed effects involves formed blood cells and chemical mediators, which cause brain lipid peroxidation (degradation of unsaturated fatty acids). Carbon monoxide causes endothelial cell and platelet release of nitric oxide, and the formation of oxygen free radicals including peroxynitrite.[25] In the brain this causes further mitochondrial dysfunction, capillary leakage, leukocyte sequestration, and apoptosis.[77] The result of these effects is lipid peroxidation, which causes delayed reversible demyelination of white matter in the central nervous system known as Grinker myelinopathy, which can lead to edema and necrosis within the brain.[71] This brain damage occurs mainly during the recovery period. This may result in cognitive defects, especially affecting memory and learning, and movement disorders. These disorders are typically related to damage to the cerebral white matter and basal ganglia.[77][78] Hallmark pathological changes following poisoning are bilateral necrosis of the white matter, globus pallidus, cerebellum, hippocampus and the cerebral cortex.[15][26][79]
### Pregnancy[edit]
Carbon monoxide poisoning in pregnant women may cause severe adverse fetal effects. Poisoning causes fetal tissue hypoxia by decreasing the release of maternal oxygen to the fetus. Carbon monoxide also crosses the placenta and combines with fetal hemoglobin, causing more direct fetal tissue hypoxia. Additionally, fetal hemoglobin has a 10 to 15% higher affinity for carbon monoxide than adult hemoglobin, causing more severe poisoning in the fetus than in the adult.[10] Elimination of carbon monoxide is slower in the fetus, leading to an accumulation of the toxic chemical.[80] The level of fetal morbidity and mortality in acute carbon monoxide poisoning is significant, so despite mild maternal poisoning or following maternal recovery, severe fetal poisoning or death may still occur.[81]
## Diagnosis[edit]
Finger tip carboxyhemoglobin saturation monitor (SpCO%). Note: This is not the same as a pulse oximeter (SpO2%), although some models (such as this one) do measure both the oxygen and carbon monoxide saturation.
Breath CO monitor displaying carbon monoxide concentration of an exhaled breath sample (in ppm) with its corresponding percent concentration of carboxyhemoglobin.
As many symptoms of carbon monoxide poisoning also occur with many other types of poisonings and infections (such as the flu), the diagnosis is often difficult.[69][82] A history of potential carbon monoxide exposure, such as being exposed to a residential fire, may suggest poisoning, but the diagnosis is confirmed by measuring the levels of carbon monoxide in the blood. This can be determined by measuring the amount of carboxyhemoglobin compared to the amount of hemoglobin in the blood.[26]
The ratio of carboxyhemoglobin to hemoglobin molecules in an average person may be up to 5%, although cigarette smokers who smoke two packs per day may have levels up to 9%.[83] In symptomatic poisoned people they are often in the 10–30% range, while persons who die may have postmortem blood levels of 30–90%.[84][85]
As people may continue to experience significant symptoms of CO poisoning long after their blood carboxyhemoglobin concentration has returned to normal, presenting to examination with a normal carboxyhemoglobin level (which may happen in late states of poisoning) does not rule out poisoning.[86]
### Measuring[edit]
Carbon monoxide may be quantitated in blood using spectrophotometric methods or chromatographic techniques in order to confirm a diagnosis of poisoning in a person or to assist in the forensic investigation of a case of fatal exposure.
A CO-oximeter can be used to determine carboxyhemoglobin levels.[87][88] Pulse CO-oximeters estimate carboxyhemoglobin with a non-invasive finger clip similar to a pulse oximeter.[89] These devices function by passing various wavelengths of light through the fingertip and measuring the light absorption of the different types of hemoglobin in the capillaries.[90] The use of a regular pulse oximeter is not effective in the diagnosis of carbon monoxide poisoning as people with carbon monoxide poisoning may have a normal oxygen saturation level on a pulse oximeter.[91] This is due to the carboxyhemoglobin being misrepresented as oxyhemoglobin.[92]
Breath CO monitoring offers an alternative to pulse CO-oximetry. Carboxyhemoglobin levels have been shown to have a strong correlation with breath CO concentration.[93][94] However, many of these devices require the user to inhale deeply and hold their breath to allow the CO in the blood to escape into the lung before the measurement can be made. As this is not possible in people who are unresponsive, these devices may not appropriate for use in on-scene emergency care detection of CO poisoning.
### Differential diagnosis[edit]
There are many conditions to be considered in the differential diagnosis of carbon monoxide poisoning.[16][31] The earliest symptoms, especially from low level exposures, are often non-specific and readily confused with other illnesses, typically flu-like viral syndromes, depression, chronic fatigue syndrome, chest pain, and migraine or other headaches.[95] Carbon monoxide has been called a "great mimicker" due to the presentation of poisoning being diverse and nonspecific.[16] Other conditions included in the differential diagnosis include acute respiratory distress syndrome, altitude sickness, lactic acidosis, diabetic ketoacidosis, meningitis, methemoglobinemia, or opioid or toxic alcohol poisoning.[31]
## Prevention[edit]
Carbon monoxide detector connected to a North American power outlet
### Detectors[edit]
A carbon monoxide monitor clipped to the uniform of a paramedic
Prevention remains a vital public health issue, requiring public education on the safe operation of appliances, heaters, fireplaces, and internal-combustion engines, as well as increased emphasis on the installation of carbon monoxide detectors.[13] Carbon monoxide is tasteless, odourless, and colourless, and therefore can not be detected by visual cues or smell.[96]
The United States Consumer Product Safety Commission has stated, "carbon monoxide detectors are as important to home safety as smoke detectors are," and recommends each home have at least one carbon monoxide detector, and preferably one on each level of the building.[97] These devices, which are relatively inexpensive[98] and widely available, are either battery- or AC-powered, with or without battery backup.[99] In buildings, carbon monoxide detectors are usually installed around heaters and other equipment. If a relatively high level of carbon monoxide is detected, the device sounds an alarm, giving people the chance to evacuate and ventilate the building.[98][100] Unlike smoke detectors, carbon monoxide detectors do not need to be placed near ceiling level.
The use of carbon monoxide detectors has been standardized in many areas. In the US, NFPA 720-2009,[101] the carbon monoxide detector guidelines published by the National Fire Protection Association, mandates the placement of carbon monoxide detectors/alarms on every level of the residence, including the basement, in addition to outside sleeping areas. In new homes, AC-powered detectors must have battery backup and be interconnected to ensure early warning of occupants at all levels.[101] NFPA 720-2009 is the first national carbon monoxide standard to address devices in non-residential buildings. These guidelines, which now pertain to schools, healthcare centers, nursing homes and other non-residential buildings, include three main points:[101]
1\. A secondary power supply (battery backup) must operate all carbon monoxide notification appliances for at least 12 hours,
2\. Detectors must be on the ceiling in the same room as permanently installed fuel-burning appliances, and
3\. Detectors must be located on every habitable level and in every HVAC zone of the building.
Gas organizations will often recommend to get gas appliances serviced at least once a year.[102]
### Legal requirements[edit]
The NFPA standard is not necessarily enforced by law. As of April 2006, the US state of Massachusetts requires detectors to be present in all residences with potential CO sources, regardless of building age and whether they are owner-occupied or rented.[103] This is enforced by municipal inspectors, and was inspired by the death of 7-year-old Nicole Garofalo in 2005 due to snow blocking a home heating vent.[104] Other jurisdictions may have no requirement or only mandate detectors for new construction or at time of sale.
Despite similar deaths in vehicles with clogged exhaust pipes (for example in the Northeastern United States blizzard of 1978 and February 2013 nor'easter) and the commercial availability of the equipment, there is no legal requirement for automotive CO detectors.[citation needed]
### World Health Organization recommendations[edit]
The following guideline values (ppm values rounded) and periods of time-weighted average exposures have been determined in such a way that the carboxyhaemoglobin (COHb) level of 2.5% is not exceeded, even when a normal subject engages in light or moderate exercise:
* 100 mg/m3 (87 ppm) for 15 min
* 60 mg/m3 (52 ppm) for 30 min
* 30 mg/m3 (26 ppm) for 1 h
* 10 mg/m3 (9 ppm) for 8 h
* 7 mg/m3 (6 ppm) for 24 h (for indoor air quality, so as not to exceed 2% COHb for chronic exposure)[105]
## Treatment[edit]
Time to remove 50% carboxyhemoglobin[106] Oxygen pressure О2 Time
21% oxygen at normal atmospheric pressure (fresh air) 5 hours 20 min
100% oxygen at normal atmospheric pressure (non-rebreather oxygen mask) 1 hours 20 min
100% hyperbaric oxygen (3 atmospheres absolute) 23 min
Initial treatment for carbon monoxide poisoning is to immediately remove the person from the exposure without endangering further people. Those who are unconscious may require CPR on site.[38] Administering oxygen via non-rebreather mask shortens the half-life of carbon monoxide from 320 minutes, when breathing normal air, to only 80 minutes.[30] Oxygen hastens the dissociation of carbon monoxide from carboxyhemoglobin, thus turning it back into hemoglobin.[14][107] Due to the possible severe effects in the baby, pregnant women are treated with oxygen for longer periods of time than non-pregnant people.[108]
### Hyperbaric oxygen[edit]
A person within a hyperbaric oxygen chamber
Hyperbaric oxygen is also used in the treatment of carbon monoxide poisoning, as it may hasten dissociation of CO from carboxyhemoglobin[14] and cytochrome oxidase[109] to a greater extent than normal oxygen. Hyperbaric oxygen at three times atmospheric pressure reduces the half life of carbon monoxide to 23 (~80/3 minutes) minutes, compared to 80 minutes for oxygen at regular atmospheric pressure.[14] It may also enhance oxygen transport to the tissues by plasma, partially bypassing the normal transfer through hemoglobin.[107] However, it is controversial whether hyperbaric oxygen actually offers any extra benefits over normal high flow oxygen, in terms of increased survival or improved long-term outcomes.[110][111][112][113][114][115] There have been randomized controlled trials in which the two treatment options have been compared;[116][117][118][119][120][121] of the six performed, four found hyperbaric oxygen improved outcome and two found no benefit for hyperbaric oxygen.[110] Some of these trials have been criticized for apparent flaws in their implementation.[122][123][124][125] A review of all the literature concluded that the role of hyperbaric oxygen is unclear and the available evidence neither confirms nor denies a medically meaningful benefit. The authors suggested a large, well designed, externally audited, multicentre trial to compare normal oxygen with hyperbaric oxygen.[110]
### Other[edit]
Further treatment for other complications such as seizure, hypotension, cardiac abnormalities, pulmonary edema, and acidosis may be required. Increased muscle activity and seizures should be treated with dantrolene or diazepam; diazepam should only be given with appropriate respiratory support.[38] Hypotension requires treatment with intravenous fluids; vasopressors may be required to treat myocardial depression.[126] Cardiac dysrhythmias are treated with standard advanced cardiac life support protocols.[26] If severe, metabolic acidosis is treated with sodium bicarbonate. Treatment with sodium bicarbonate is controversial as acidosis may increase tissue oxygen availability.[127] Treatment of acidosis may only need to consist of oxygen therapy.[26][31] The delayed development of neuropsychiatric impairment is one of the most serious complications of carbon monoxide poisoning. Brain damage is confirmed following MRI or CAT scans.[25][128][129] Extensive follow up and supportive treatment is often required for delayed neurological damage.[30] Outcomes are often difficult to predict following poisoning,[130] especially people who have symptoms of cardiac arrest, coma, metabolic acidosis, or have high carboxyhemoglobin levels.[31] One study reported that approximately 30% of people with severe carbon monoxide poisoning will have a fatal outcome.[69] It has been reported that electroconvulsive therapy (ECT) may increase the likelihood of delayed neuropsychiatric sequelae (DNS) after carbon monoxide (CO) poisoning.[131] A device that also provides some carbon dioxide to stimulate faster breathing (sold under the brand name ClearMate) may also be used.[132]
## Epidemiology[edit]
See also: Category:Deaths from carbon monoxide poisoning.
The true number of cases of carbon monoxide poisoning is unknown, since many non-lethal exposures go undetected.[25][69] From the available data, carbon monoxide poisoning is the most common cause of injury and death due to poisoning worldwide.[133] Poisoning is typically more common during the winter months.[16][134][135][136] This is due to increased domestic use of gas furnaces, gas or kerosene space heaters, and kitchen stoves during the winter months, which if faulty and/or used without adequate ventilation, may produce excessive carbon monoxide.[16][137] Carbon monoxide detection and poisoning also increases during power outages, when electric heating and cooking appliances become inoperative and residents may temporarily resort to fuel-burning space heaters, stoves, and grills (some of which are safe only for outdoor use but nonetheless are errantly burned indoors).[138][139][140]
It has been estimated that more than 40,000 people per year seek medical attention for carbon monoxide poisoning in the United States.[141] 95% of carbon monoxide poisoning deaths in the United States are due to gas space heaters.[142][143] In many industrialized countries carbon monoxide is the cause of more than 50% of fatal poisonings.[10] In the United States, approximately 200 people die each year from carbon monoxide poisoning associated with home fuel-burning heating equipment.[97] Carbon monoxide poisoning contributes to the approximately 5613 smoke inhalation deaths each year in the United States.[144] The CDC reports, "Each year, more than 500 Americans die from unintentional carbon monoxide poisoning, and more than 2,000 commit suicide by intentionally poisoning themselves."[145] For the 10-year period from 1979 to 1988, 56,133 deaths from carbon monoxide poisoning occurred in the United States, with 25,889 of those being suicides, leaving 30,244 unintentional deaths.[144] A report from New Zealand showed that 206 people died from carbon monoxide poisoning in the years of 2001 and 2002. In total carbon monoxide poisoning was responsible for 43.9% of deaths by poisoning in that country.[146] In South Korea, 1,950 people had been poisoned by carbon monoxide with 254 deaths from 2001 through 2003.[147] A report from Jerusalem showed 3.53 per 100,000 people were poisoned annually from 2001 through 2006.[148] In Hubei, China, 218 deaths from poisoning were reported over a 10-year period with 16.5% being from carbon monoxide exposure.[149]
## History[edit]
The earliest description of carbon monoxide poisoning dates to at least 200 BC by Aristotle.[150] Documented cases of carbon monoxide being used as a method of suicide date to at least 100 BC in ancient Rome.[150] In the AD 350s, the Roman emperor Julian suffered from carbon monoxide poisoning in Paris, and later described it in his work Misopogon: "though the winter weather prevailed and continually increased in severity, even so I did not allow my servants to heat the house, because I was afraid of drawing out the dampness in the walls; but I ordered them to carry in fire that had burned down and to place in the room a very moderate number of hot coals. But the coals, though there were not very many of them, brought out from the walls quantities of steam and this made me fall asleep. And since my head was filled with the fumes I was almost choked. Then I was carried outside."[151] This misunderstanding of the causes of carbon monoxide poisoning may have caused the death of Julian's successor, Jovian.
John Scott Haldane identified carbon monoxide as the lethal constituent of afterdamp, the gas created by combustion, after examining many bodies of miners killed in pit explosions. Their skin was coloured cherry-pink from carboxyhaemoglobin, the stable compound formed in the blood by reaction with the gas. As a result of his research, he was able to design respirators for rescue workers. He tested the effect of carbon monoxide on his own body in a closed chamber, describing the results of his slow poisoning. In the late 1890s, he introduced the use of small animals for miners to detect dangerous levels of carbon monoxide underground, either white mice or canaries. With a faster metabolism, they showed the effects of poisoning before gas levels became critical for the workers, and so gave an early warning of the problem. The canary in British pits was replaced in 1986 by the electronic gas detector.
As part of the Holocaust during World War II, German Nazis used gas vans at Chelmno extermination camp and elsewhere to kill an estimated over 700,000 prisoners by carbon monoxide poisoning. This method was also used in the gas chambers of several death camps such as Treblinka, Sobibor and Belzec. Gassing with carbon monoxide started in action T4, the programme developed by the Nazis in Germany to murder the mentally ill and disabled people before the war started in earnest. The gas was supplied by IG Farben in pressurized cylinders and fed by tubes into the gas chambers built at various mental hospitals, such as Hartheim Euthanasia Centre. Many key personnel were recruited from the T4 programme to murder much larger numbers of people in the gas vans and the special gas chambers used in the death camps such as Treblinka. Exhaust fumes from tank engines for example, were used to supply the gas to the chambers.[152]
The worst accidental mass poisoning from carbon monoxide was the Balvano train disaster which occurred on 3 March 1944 in Italy, when a freight train with many illegal passengers stalled in a tunnel, leading to the death of over 500 people.[153]
The use of oxygen as treatment began in 1868.[150] The use of hyperbaric oxygen in rats following poisoning was studied by Haldane in 1895 while its use in humans began in the 1960s.[150]
## Research[edit]
Carbon monoxide is produced naturally by the body as a byproduct of converting protoporphyrin into bilirubin. This carbon monoxide also combines with hemoglobin to make carboxyhemoglobin, but not at toxic levels.[26]
Small amounts of CO are beneficial and enzymes exist that produce it at times of oxidative stress. Drugs are being developed to introduce small amounts of CO during certain kinds of surgery, these drugs are called carbon monoxide-releasing molecules.[154]
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142. ^ "2004 Addendum to Overseas and Australian Statistics and Benchmarks for Customer Gas Safety Incidents" (PDF). Office of Gas Safety, Victoria. 2004. Archived from the original (PDF) on 2015-09-24.
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## External links[edit]
* Centers for Disease Control and Prevention (CDC) – Carbon Monoxide – NIOSH Workplace Safety and Health Topic
* International Programme on Chemical Safety (1999). Carbon Monoxide, Environmental Health Criteria 213, Geneva: WHO
Classification
D
* ICD-10: T58
* ICD-9-CM: 986
* MeSH: D002249
External resources
* eMedicine: article/819987
* Patient UK: Carbon monoxide poisoning
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Underwater
breathing
apparatus
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Open-circuit
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Surface-supplied
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*
Diving
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manufacturers
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Diving support equipment
Access equipment
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Breathing gas
handling
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Decompression
equipment
* Built-in breathing system
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General
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Activities
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Competitions
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Equipment
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Freedivers
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Hazards
* Barotrauma
* Drowning
* Freediving blackout
* Deep-water blackout
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* Hypercapnia
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Historical
* Ama
* Octopus wrestling
* Swimming at the 1900 Summer Olympics – Men's underwater swimming
Organisations
* AIDA International
* Scuba Schools International
* Australian Underwater Federation
* British Freediving Association
* Confédération Mondiale des Activités Subaquatiques
* Fédération Française d'Études et de Sports Sous-Marins
* Performance Freediving International
Professional diving
Occupations
* Ama
* Commercial diver
* Commercial offshore diver
* Hazmat diver
* Divemaster
* Diving instructor
* Diving safety officer
* Diving superintendent
* Diving supervisor
* Haenyeo
* Media diver
* Police diver
* Public safety diver
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* Underwater archaeologist
Military diving
* Army engineer diver
* Clearance diver
* Frogman
* List of military diving units
* Royal Navy ships diver
* Special Boat Service
* United States military divers
* U.S. Navy diver
* U.S.Navy master diver
* United States Navy SEALs
* Underwater Demolition Team
Underwater work
* Commercial offshore diving
* Dive leader
* Diver training
* Recreational diver training
* Hyperbaric welding
* Media diving
* Nondestructive testing
* Pearl hunting
* Police diving
* Potable water diving
* Public safety diving
* Scientific diving
* Ships husbandry
* Sponge diving
* Submarine pipeline
* Underwater archaeology
* Archaeology of shipwrecks
* Underwater construction
* Offshore construction
* Underwater demolition
* Underwater photography
* Underwater search and recovery
* Underwater videography
Salvage diving
* SS Egypt
* Kronan
* La Belle
* SS Laurentic
* RMS Lusitania
* Mars
* Mary Rose
* USS Monitor
* HMS Royal George
* Vasa
Diving contractors
* COMEX
* Helix Energy Solutions Group
Tools & equipment
* Abrasive waterjet
* Airlift
* Baited remote underwater video
* In-water surface cleaning
* Brush cart
* Cavitation cleaning
* Pressure washing
* Pigging
* Lifting bag
* Remotely operated underwater vehicle
* Thermal lance
* Tremie
* Water jetting
Underwater
weapons
* Limpet mine
* Speargun
* Hawaiian sling
* Polespear
Underwater
firearm
* Gyrojet
* Mk 1 Underwater Defense Gun
* Powerhead
* Underwater pistols
* Heckler & Koch P11
* SPP-1 underwater pistol
* Underwater revolvers
* AAI underwater revolver
* Underwater rifles
* ADS amphibious rifle
* APS underwater rifle
* ASM-DT amphibious rifle
Recreational diving
Specialties
* Altitude diving
* Cave diving
* Deep diving
* Ice diving
* Muck diving
* Open-water diving
* Rebreather diving
* Sidemount diving
* Solo diving
* Technical diving
* Underwater photography
* Wreck diving
Diver
organisations
* British Sub-Aqua Club (BSAC)
* Cave Divers Association of Australia (CDAA)
* Cave Diving Group (CDG)
* Comhairle Fo-Thuinn (CFT)
* Confédération Mondiale des Activités Subaquatiques (CMAS)
* Federación Española de Actividades Subacuáticas (FEDAS)
* Fédération Française d'Études et de Sports Sous-Marins (FFESSM)
* International Association for Handicapped Divers (IAHD)
* National Association for Cave Diving (NACD)
* Woodville Karst Plain Project (WKPP)
Diving tourism
industry
* Dive center
* Environmental impact of recreational diving
* Scuba diving tourism
* Shark tourism
* Sinking ships for wreck diving sites
Diving events
and festivals
* Diversnight
* Underwater Bike Race
Recreational
dive sites
Reef diving
regions
* Aliwal Shoal Marine Protected Area
* Arrecifes de Cozumel National Park
* Edmonds Underwater Park
* Great Barrier Reef
* iSimangaliso Marine Protected Area
* Poor Knights Islands
* Table Mountain National Park Marine Protected Area
Reef dive
sites
* Artificial reef
* Gibraltar Artificial Reef
* Shark River Reef
* Osborne Reef
* Fanadir
* Gamul Kebir
* Palancar Reef
* Underwater artworks
* Cancún Underwater Museum
* Christ of the Abyss
* Molinere Underwater Sculpture Park
Wreck diving
regions
* Chuuk Lagoon
* Edmonds Underwater Park
* Finger Lakes Underwater Preserve Association
* Maritime Heritage Trail – Battle of Saipan
* Michigan Underwater Preserves
* Robben Island Marine Protected Area
* Table Mountain National Park Marine Protected Area
* Tulagi
* Tulamben
* Whitefish Point Underwater Preserve
* Wreck Alley, San Diego
Wreck dive
sites
* HMS A1
* HMS A3
* USS Aaron Ward
* Abessinia
* Aeolian Sky
* Albert C. Field
* Andrea Doria
* Antilla
* Antilles
* Aquila
* USS Arkansas
* Bianca C.
* SS Binnendijk
* HMS Boadicea
* Booya
* HMSAS Bloemfontein
* Breda
* HMAS Brisbane
* HMHS Britannic
* Bungsberg
* HMAS Canberra
* Carl D. Bradley
* Carnatic
* SMS Dresden
* Dunraven
* Eastfield
* HMT Elk
* Ellengowan
* RMS Empress of Ireland
* HMS Falmouth
* Fifi
* SS Francisco Morazan
* Fujikawa Maru
* Fumizuki
* SATS General Botha
* USNS General Hoyt S. Vandenberg
* HMS Ghurka
* Glen Strathallan
* SAS Good Hope
* Gothenburg
* Herzogin Cecilie
* Hilma Hooker
* Hispania
* HMS Hood
* HMAS Hobart
* Igara
* James Eagan Layne
* Captain Keith Tibbetts
* King Cruiser
* SMS Kronprinz
* Kyarra
* HMS Laforey
* USAT Liberty
* Louis Sheid
* USS LST-507
* SMS Markgraf
* Mikhail Lermontov
* HMS M2
* Maine
* Maloja
* HMS Maori
* Marguerite
* SS Mauna Loa
* USAT Meigs
* Mendi
* USCGC Mohawk
* Mohegan
* RMS Moldavia
* HMS Montagu
* MV RMS Mulheim
* Nagato
* Oceana
* USS Oriskany
* Oslofjord
* P29
* P31
* Pedernales
* Persier
* HMAS Perth
* SAS Pietermaritzburg
* Piłsudski
* Pool Fisher
* HMS Port Napier
* Preußen
* President Coolidge
* PS Queen Victoria
* Radaas
* Rainbow Warrior
* RMS Rhone
* Rondo
* Rosehill
* Rotorua
* Royal Adelaide
* Royal Charter
* Rozi
* HMS Safari
* Salem Express
* USS Saratoga
* USS Scuffle
* HMS Scylla
* HMS Sidon
* USS Spiegel Grove
* Stanegarth
* Stanwood
* Stella
* HMAS Swan
* USS Tarpon
* Thesis
* Thistlegorm
* Toa Maru
* Torrey Canyon
* SAS Transvaal
* U-40
* U-352
* U-1195
* Um El Faroud
* Varvassi
* Walter L M Russ
* Washingtonian (1913)
* HMNZS Wellington
* USS Yancey
* Yongala
* Zenobia
* Zealandia
* Zingara
Cave diving
sites
* Blauhöhle
* Chinhoyi Caves
* Devil's Throat at Punta Sur
* Engelbrecht Cave
* Fossil Cave
* Jordbrugrotta
* Piccaninnie Ponds
* Pluragrotta
* Pollatoomary
* Sistema Ox Bel Ha
* Sistema Sac Actun
* Sistema Dos Ojos
* Sistema Nohoch Nah Chich
Freshwater
dives
* Dutch Springs
* Ewens Ponds
* Little Blue Lake
Training sites
* Capernwray Dive Centre
* Deepspot
* National Diving and Activity Centre
* Stoney Cove
Open ocean
diving
* Blue-water diving
* Black-water diving
Diving safety
* Human factors in diving equipment design
* Human factors in diving safety
* Life-support system
* Safety-critical system
* Scuba diving fatalities
Diving
hazards
* List of diving hazards and precautions
* Environmental
* Current
* Delta-P
* Entanglement hazard
* Overhead
* Silt out
* Wave action
* Equipment
* Freeflow
* Use of breathing equipment in an underwater environment
* Failure of diving equipment other than breathing apparatus
* Single point of failure
* Physiological
* Cold shock response
* Decompression
* Nitrogen narcosis
* Oxygen toxicity
* Seasickness
* Uncontrolled decompression
* Diver behaviour and competence
* Lack of competence
* Overconfidence effect
* Panic
* Task loading
* Trait anxiety
* Willful violation
Consequences
* Barotrauma
* Decompression sickness
* Drowning
* Hypothermia
* Hypoxia
* Hypercapnia
* Hyperthermia
Diving
procedures
* Ascending and descending
* Emergency ascent
* Boat diving
* Canoe and kayak diving
* Buddy diving
* buddy check
* Decompression
* Decompression practice
* Pyle stop
* Ratio decompression
* Dive briefing
* Dive log
* Dive planning
* Scuba gas planning
* Diver communications
* Diving hand signals
* Diving line signals
* Diver voice communications
* Diver rescue
* Diver training
* Doing It Right
* Drift diving
* Gas blending for scuba diving
* Night diving
* Solo diving
* Water safety
Risk
management
* Checklist
* Hazard identification and risk assessment
* Hazard analysis
* Job safety analysis
* Risk assessment
* Risk control
* Hierarchy of hazard controls
* Incident pit
* Lockout–tagout
* Permit To Work
* Redundancy
* Safety data sheet
* Situation awareness
Diving team
* Bellman
* Chamber operator
* Diver medical technician
* Diver's attendant
* Diving supervisor
* Diving systems technician
* Gas man
* Life support technician
* Stand-by diver
Equipment
safety
* Breathing gas quality
* Testing and inspection of diving cylinders
* Hydrostatic test
* Sustained load cracking
* Diving regulator
* Breathing performance of regulators
Occupational
safety and
health
* Approaches to safety
* Job safety analysis
* Risk assessment
* Toolbox talk
* Housekeeping
* Association of Diving Contractors International
* Code of practice
* Contingency plan
* Diving regulations
* Emergency procedure
* Emergency response plan
* Evacuation plan
* Hazardous Materials Identification System
* Hierarchy of hazard controls
* Administrative controls
* Engineering controls
* Hazard elimination
* Hazard substitution
* Personal protective equipment
* International Marine Contractors Association
* Occupational hazard
* Biological hazard
* Chemical hazard
* Physical hazard
* Psychosocial hazard
* Occupational hygiene
* Exposure assessment
* Occupational exposure limit
* Workplace health surveillance
* Safety culture
* Code of practice
* Diving safety officer
* Diving superintendent
* Health and safety representative
* Operations manual
* Safety meeting
* Standard operating procedure
Diving medicine
Diving
disorders
* List of signs and symptoms of diving disorders
* Cramp
* Motion sickness
* Surfer's ear
Pressure
related
* Alternobaric vertigo
* Barostriction
* Barotrauma
* Air embolism
* Aerosinusitis
* Barodontalgia
* Dental barotrauma
* Pulmonary barotrauma
* Compression arthralgia
* Decompression illness
* Dysbarism
Oxygen
* Freediving blackout
* Hyperoxia
* Hypoxia
* Oxygen toxicity
Inert gases
* Avascular necrosis
* Decompression sickness
* Isobaric counterdiffusion
* Taravana
* Dysbaric osteonecrosis
* High-pressure nervous syndrome
* Hydrogen narcosis
* Nitrogen narcosis
Carbon dioxide
* Hypercapnia
* Hypocapnia
Breathing gas
contaminants
* Carbon monoxide poisoning
Immersion
related
* Asphyxia
* Drowning
* Hypothermia
* Immersion diuresis
* Instinctive drowning response
* Laryngospasm
* Salt water aspiration syndrome
* Swimming-induced pulmonary edema
Treatment
* Demand valve oxygen therapy
* First aid
* Hyperbaric medicine
* Hyperbaric treatment schedules
* In-water recompression
* Oxygen therapy
* Therapeutic recompression
Personnel
* Diving Medical Examiner
* Diving Medical Practitioner
* Diving Medical Technician
* Hyperbaric nursing
Screening
* Atrial septal defect
* Effects of drugs on fitness to dive
* Fitness to dive
* Psychological fitness to dive
Research
Researchers in
diving physiology
and medicine
* Arthur J. Bachrach
* Albert R. Behnke
* Paul Bert
* George F. Bond
* Robert Boyle
* Albert A. Bühlmann
* John R. Clarke
* Guybon Chesney Castell Damant
* Kenneth William Donald
* William Paul Fife
* John Scott Haldane
* Robert William Hamilton Jr.
* Leonard Erskine Hill
* Brian Andrew Hills
* Felix Hoppe-Seyler
* Christian J. Lambertsen
* Simon Mitchell
* Charles Momsen
* John Rawlins R.N.
* Charles Wesley Shilling
* Edward D. Thalmann
* Jacques Triger
Diving medical
research
organisations
* Aerospace Medical Association
* Divers Alert Network (DAN)
* Diving Diseases Research Centre (DDRC)
* Diving Medical Advisory Council (DMAC)
* European Diving Technology Committee (EDTC)
* European Underwater and Baromedical Society (EUBS)
* National Board of Diving and Hyperbaric Medical Technology
* Naval Submarine Medical Research Laboratory
* Royal Australian Navy School of Underwater Medicine
* Rubicon Foundation
* South Pacific Underwater Medicine Society (SPUMS)
* Southern African Underwater and Hyperbaric Medical Association (SAUHMA)
* Undersea and Hyperbaric Medical Society (UHMS)
* United States Navy Experimental Diving Unit (NEDU)
Law
* Civil liability in recreational diving
* Diving regulations
* Duty of care
* List of legislation regulating underwater diving
* Investigation of diving accidents
* UNESCO Convention on the Protection of the Underwater Cultural Heritage
History of underwater diving
* History of decompression research and development
* History of scuba diving
* List of researchers in underwater diving
* Timeline of diving technology
* Underwater diving in popular culture
Archeological
sites
* SS Commodore
* USS Monitor
* Queen Anne's Revenge
* Whydah Gally
Underwater art
and artists
* The Diver
* Jason deCaires Taylor
Engineers
and inventors
* William Beebe
* Georges Beuchat
* John R. Clarke
* Jacques Cousteau
* Charles Anthony Deane
* John Deane
* Ted Eldred
* Henry Fleuss
* Émile Gagnan
* Joseph-Martin Cabirol
* Christian J. Lambertsen
* Yves Le Prieur
* John Lethbridge
* Ernest William Moir
* Joseph Salim Peress
* Auguste Piccard
* Willard Franklyn Searle
* Augustus Siebe
* Jacques Triger
Equipment
* Aqua-Lung
* RV Calypso
* SP-350 Denise
* Nikonos
* Porpoise regulator
* Standard diving dress
* Vintage scuba
Military and
covert operations
* Raid on Alexandria (1941)
* Sinking of the Rainbow Warrior
Scientific projects
* 1992 cageless shark-diving expedition
* Mission 31
Incidents
Dive boat incidents
* Sinking of MV Conception
* Fire on MV Red Sea Aggressor
Diver rescues
* Alpazat cave rescue
* Tham Luang cave rescue
Early diving
* John Day (carpenter)
* Charles Spalding
* Ebenezer Watson
Freediving fatalities
* Loïc Leferme
* Audrey Mestre
* Nicholas Mevoli
* Natalia Molchanova
Offshore
diving incidents
* Byford Dolphin diving bell accident
* Drill Master diving accident
* Star Canopus diving accident
* Stena Seaspread diving accident
* Venture One diving accident
* Waage Drill II diving accident
* Wildrake diving accident
Professional
diving fatalities
* Roger Baldwin
* John Bennett
* Victor F. Guiel Jr.
* Craig M. Hoffman
* Peter Henry Michael Holmes
* Johnson Sea Link accident
* Edwin Clayton Link
* Gerard Anthony Prangley
* Pier Skipness
* Robert John Smyth
* Albert D. Stover
* Richard A. Walker
* Lothar Michael Ward
* Joachim Wendler
* Bradley Westell
* Arne Zetterström
Scuba diving
fatalities
* Ricardo Armbruster
* Allan Bridge
* David Bright
* Berry L. Cannon
* Cotton Coulson
* Cláudio Coutinho
* E. Yale Dawson
* Deon Dreyer
* Milan Dufek
* Sheck Exley
* Maurice Fargues
* Fernando Garfella Palmer
* Guy Garman
* Steve Irwin
* Jim Jones
* Henry Way Kendall
* Artur Kozłowski
* Chris and Chrissy Rouse
* Kirsty MacColl
* Agnes Milowka
* François de Roubaix
* Dave Shaw
* Wesley C. Skiles
* Dewey Smith
* Rob Stewart
* Esbjörn Svensson
* Josef Velek
Publications
Manuals
* NOAA Diving Manual
* U.S. Navy Diving Manual
* Basic Cave Diving: A Blueprint for Survival
* Underwater Handbook
* Bennett and Elliott's physiology and medicine of diving
* Encyclopedia of Recreational Diving
* The new science of skin and scuba diving
* Professional Diver's Handbook
* Basic Scuba
Standards and
Codes of Practice
* Code of Practice for Scientific Diving (UNESCO)
* DIN 7876
* IMCA Code of Practice for Offshore Diving
* ISO 24801 Recreational diving services — Requirements for the training of recreational scuba divers
General non-fiction
* The Darkness Beckons
* Goldfinder
* The Last Dive
* Shadow Divers
* The Silent World: A Story of Undersea Discovery and Adventure
Research
* List of Divers Alert Network publications
Dive guides
*
Training and registration
Diver
training
* Competence and assessment
* Competency-based learning
* Refresher training
* Skill assessment
* Diver training standard
* Diving instructor
* Diving school
* Occupational diver training
* Commercial diver training
* Military diver training
* Public safety diver training
* Scientific diver training
* Recreational diver training
* Introductory diving
* Teaching method
* Muscle memory
* Overlearning
* Stress exposure training
Skills
* Combat sidestroke
* Diver navigation
* Diver trim
* Ear clearing
* Frenzel maneuver
* Valsalva maneuver
* Finning techniques
* Scuba skills
* Buddy breathing
* Low impact diving
* Diamond Reef System
* Surface-supplied diving skills
* Underwater searches
Recreational
scuba
certification
levels
Core diving skills
* Advanced Open Water Diver
* Autonomous diver
* CMAS* scuba diver
* CMAS** scuba diver
* Introductory diving
* Low Impact Diver
* Master Scuba Diver
* Open Water Diver
* Supervised diver
Leadership skills
* Dive leader
* Divemaster
* Diving instructor
* Master Instructor
Specialist skills
* Rescue Diver
* Solo diver
Diver training
certification
and registration
organisations
* European Underwater Federation (EUF)
* International Diving Regulators and Certifiers Forum (IDRCF)
* International Diving Schools Association (IDSA)
* International Marine Contractors Association (IMCA)
* List of diver certification organizations
* National Oceanic and Atmospheric Administration (NOAA)
* Nautical Archaeology Society
* Universal Referral Program
* World Recreational Scuba Training Council (WRSTC)
Commercial diver
certification
authorities
* Australian Diver Accreditation Scheme (ADAS)
* Commercial diver registration in South Africa
* Divers Institute of Technology
* Health and Safety Executive (HSE)
* Department of Employment and Labour
Commercial diving
schools
* Divers Academy International
* Norwegian diver school
Free-diving
certification
agencies
* AIDA International (AIDA)
* Confédération Mondiale des Activités Subaquatiques (CMAS)
* Performance Freediving International (PI)
* Scuba Schools International (SSI)
Recreational scuba
certification
agencies
* American Canadian Underwater Certifications (ACUC)
* American Nitrox Divers International (ANDI)
* Association nationale des moniteurs de plongée (ANMP)
* British Sub-Aqua Club (BSAC)
* Comhairle Fo-Thuinn (CFT)
* Confédération Mondiale des Activités Subaquatiques (CMAS)
* Federación Española de Actividades Subacuáticas (FEDAS)
* Fédération Française d'Études et de Sports Sous-Marins (FFESSM)
* Federazione Italiana Attività Subacquee (FIAS)
* Global Underwater Explorers (GUE)
* International Association for Handicapped Divers (IAHD)
* International Association of Nitrox and Technical Divers (IANTD)
* International Diving Educators Association (IDEA)
* Israeli Diving Federation (TIDF)
* National Academy of Scuba Educators (NASE)
* National Association of Underwater Instructors (NAUI)
* Nederlandse Onderwatersport Bond (NOB)
* Professional Association of Diving Instructors (PADI)
* Professional Diving Instructors Corporation (PDIC)
* Sub-Aqua Association (SAA)
* Scuba Diving International (SDI)
* Scuba Educators International (SEI)
* Scottish Sub Aqua Club (ScotSAC)
* Scuba Schools International (SSI)
* Türkiye Sualtı Sporları Federasyonu (TSSF)
* United Diving Instructors (UDI)
* YMCA SCUBA Program
Scientific diver
certification
authorities
* American Academy of Underwater Sciences (AAUS)
* CMAS Scientific Committee
Technical
certification
agencies
* American Nitrox Divers International (ANDI)
* British Sub-Aqua Club (BSAC)
* Confédération Mondiale des Activités Subaquatiques (CMAS)
* Diving Science and Technology (DSAT)
* Federazione Italiana Attività Subacquee (FIAS)
* International Association of Nitrox and Technical Divers (IANTD)
* Professional Association of Diving Instructors (PADI)
* Professional Diving Instructors Corporation (PDIC)
* Trimix Scuba Association (TSA)
* Technical Extended Range (TXR)
Cave
diving
* Cave Divers Association of Australia (CDAA)
* Cave Diving Group (CDG)
* Global Underwater Explorers (GUE)
* National Association for Cave Diving (NACD)
* National Speleological Society#Cave Diving Group (CDG)
* National Association of Underwater Instructors (NAUI)
* Technical Diving International (TDI)
Underwater sports
Surface snorkeling
* Finswimming
Snorkeling/breath-hold
* Spearfishing
* Underwater football
* Underwater hockey
* Australia
* Turkey
* Underwater rugby
* Colombia
* United States
* Underwater target shooting
Breath-hold
* Aquathlon
* Apnoea finswimming
* Freediving
* Underwater ice hockey
Open Circuit Scuba
* Immersion finswimming
* Sport diving
* Underwater cycling
* Underwater orienteering
* Underwater photography
Rebreather
* Underwater photography
Sports governing
organisations
and federations
* International
* AIDA International
* Confédération Mondiale des Activités Subaquatiques)
* National
* AIDA Hellas
* Australian Underwater Federation
* British Freediving Association
* British Octopush Association
* British Underwater Sports Association
* Comhairle Fo-Thuinn
* Federación Española de Actividades Subacuáticas
* Fédération Française d'Études et de Sports Sous-Marins
* South African Underwater Sports Federation
* Türkiye Sualtı Sporları Federasyonu
* Underwater Society of America)
Competitions
* 14th CMAS Underwater Photography World Championship
Underwater divers
Pioneers
of diving
* Eduard Admetlla i Lázaro
* Aquanaut
* James F. Cahill
* Jacques Cousteau
* Billy Deans
* Dottie Frazier
* Hans Hass
* Dick Rutkowski
* Teseo Tesei
* Arne Zetterström
Underwater
scientists
archaeologists and
environmentalists
* Michael Arbuthnot
* Robert Ballard
* George Bass
* Mensun Bound
* Louis Boutan
* Hugh Bradner
* Cathy Church
* Eugenie Clark
* James P. Delgado
* Sylvia Earle
* John Christopher Fine
* George R. Fischer
* Anders Franzén
* Honor Frost
* Fernando Garfella Palmer
* David Gibbins
* Graham Jessop
* Swietenia Puspa Lestari
* Pilar Luna
* Robert F. Marx
* Anna Marguerite McCann
* Innes McCartney
* Charles T. Meide
* David Moore
* Mark M. Newell
* Lyuba Ognenova-Marinova
* John Peter Oleson
* Mendel L. Peterson
* Richard Pyle
* William R. Royal
* Margaret Rule
* Gunter Schöbel
* Stephanie Schwabe
* Myriam Seco
* E. Lee Spence
* Robert Sténuit
* Peter Throckmorton
Scuba record
holders
* Pascal Bernabé
* Jim Bowden
* Mark Ellyatt
* Sheck Exley
* Nuno Gomes
* Claudia Serpieri
* Krzysztof Starnawski
Underwater
filmmakers
and presenters
* Samir Alhafith
* David Attenborough
* Ramón Bravo
* Jean-Michel Cousteau
* Richie Kohler
* Ivan Tors
* Andrew Wight
Underwater
photographers
* Tamara Benitez
* Georges Beuchat
* Adrian Biddle
* Jonathan Bird
* Eric Cheng
* Neville Coleman
* Jacques Cousteau
* John D. Craig
* Ben Cropp
* Bernard Delemotte
* David Doubilet
* John Christopher Fine
* Dermot FitzGerald
* Rodney Fox
* Ric Frazier
* Stephen Frink
* Peter Gimbel
* Monty Halls
* Hans Hass
* Henry Way Kendall
* Rudie Kuiter
* Joseph B. MacInnis
* Luis Marden
* Agnes Milowka
* Noel Monkman
* Steve Parish
* Zale Parry
* Pierre Petit
* Leni Riefenstahl
* Peter Scoones
* Brian Skerry
* Wesley C. Skiles
* E. Lee Spence
* Philippe Tailliez
* Ron Taylor
* Valerie Taylor
* Albert Tillman
* John Veltri
* Stan Waterman
* Michele Westmorland
* John Ernest Williamson
* J. Lamar Worzel
Underwater
explorers
* Caves
* Graham Balcombe
* Sheck Exley
* Martyn Farr
* Jochen Hasenmayer
* Jill Heinerth
* Jarrod Jablonski
* William Hogarth Main
* Tom Mount
* Jack Sheppard
* Bill Stone
* Reefs
* * Wrecks
* Leigh Bishop
* John Chatterton
* Clive Cussler
* Bill Nagle
* Aristotelis Zervoudis
Aquanauts
* Andrew Abercromby
* Joseph M. Acaba
* Clayton Anderson
* Richard R. Arnold
* Serena Auñón-Chancellor
* Michael Barratt (astronaut)
* Robert L. Behnken
* Randolph Bresnik
* Timothy J. Broderick
* Justin Brown
* Berry L. Cannon
* Scott Carpenter
* Gregory Chamitoff
* Steve Chappell
* Catherine Coleman
* Robin Cook
* Craig B. Cooper
* Fabien Cousteau
* Philippe Cousteau
* Timothy Creamer
* Jonathan Dory
* Pedro Duque
* Sylvia Earle
* Jeanette Epps
* Sheck Exley
* Albert Falco
* Andrew J. Feustel
* Michael Fincke
* Satoshi Furukawa
* Ronald J. Garan Jr.
* Michael L. Gernhardt
* Christopher E. Gerty
* David Gruber
* Chris Hadfield
* Jeremy Hansen
* José M. Hernández
* John Herrington
* Paul Hill
* Akihiko Hoshide
* Mark Hulsbeck
* Emma Hwang
* Norishige Kanai
* Les Kaufman
* Scott Kelly
* Karen Kohanowich
* Timothy Kopra
* Dominic Landucci
* Jon Lindbergh
* Kjell N. Lindgren
* Michael López-Alegría
* Joseph B. MacInnis
* Sandra Magnus
* Thomas Marshburn
* Matthias Maurer
* K. Megan McArthur
* Craig McKinley
* Jessica Meir
* Simone Melchior
* Dorothy Metcalf-Lindenburger
* Andreas Mogensen
* Karen Nyberg
* John D. Olivas
* Takuya Onishi
* Luca Parmitano
* Nicholas Patrick
* Tim Peake
* Thomas Pesquet
* Marc Reagan
* Garrett Reisman
* Kathleen Rubins
* Dick Rutkowski
* Tara Ruttley
* David Saint-Jacques
* Josef Schmid
* Robert Sheats
* Dewey Smith
* Steve Squyres
* Heidemarie Stefanyshyn-Piper
* Robert Sténuit
* Hervé Stevenin
* Nicole Stott
* James Talacek
* Daniel M. Tani
* Robert Thirsk
* Bill Todd
* Mark T. Vande Hei
* Koichi Wakata
* Rex J. Walheim
* Shannon Walker
* John Morgan Wells
* Joachim Wendler
* Douglas H. Wheelock
* Peggy Whitson
* Dafydd Williams
* Jeffrey Williams
* Sunita Williams
* Gregory R. Wiseman
* Kimiya Yui
Writers and journalists
* Michael C. Barnette
* Victor Berge
* Philippe Diolé
* Gary Gentile
* Bret Gilliam
* Bob Halstead
* Trevor Jackson
* Steve Lewis
* John Mattera
Rescuers
* Craig Challen
* Richard Harris
* Rick Stanton
* John Volanthen
Frogmen
* Lionel Crabb
Commercial salvors
* Keith Jessop
Science of underwater diving
Diving
physics
* Breathing performance of regulators
* Buoyancy
* Archimedes' principle
* Neutral buoyancy
* Concentration
* Diffusion
* Molecular diffusion
* Force
* Oxygen fraction
* Permeation
* Psychrometric constant
* Solubility
* Henry's law
* Saturation
* Solution
* Supersaturation
* Surface tension
* Hydrophobe
* Surfactant
* Temperature
* Torricellian chamber
* Underwater acoustics
* Modulated ultrasound
* Underwater vision
* Snell's law
* Underwater computer vision
* Weight
* Apparent weight
Gas laws
* Amontons's law
* Boyle's law
* Charles's law
* Combined gas law
* Dalton's law
* Gay-Lussac's law
* Ideal gas law
Pressure
* Absolute pressure
* Ambient pressure
* Atmospheric pressure
* Gauge pressure
* Hydrostatic pressure
* Metre sea water
* Partial pressure
Diving
physiology
* Artificial gills
* Cold shock response
* Diving reflex
* Equivalent narcotic depth
* Lipid
* Maximum operating depth
* Metabolism
* Physiological response to water immersion
* Tissue
* Underwater vision
Circulatory
system
* Blood shift
* Patent foramen ovale
* Perfusion
* Pulmonary circulation
* Systemic circulation
Decompression
theory
* Decompression models:
* Bühlmann decompression algorithm
* Haldane's decompression model
* Reduced gradient bubble model
* Thalmann algorithm
* Thermodynamic model of decompression
* Varying Permeability Model
* Equivalent air depth
* Equivalent narcotic depth
* Oxygen window in diving decompression
* Physiology of decompression
Respiration
* Blood–air barrier
* Breathing
* CO₂ retention
* Dead space
* Gas exchange
* Hypocapnia
* Respiratory exchange ratio
* Respiratory quotient
* Respiratory system
* Work of breathing
Diving
environment
Classification
* List of diving environments by type
* Altitude diving
* Benign water diving
* Confined water diving
* Deep diving
* Inland diving
* Inshore diving
* Muck diving
* Night diving
* Open-water diving
* Black-water diving
* Blue-water diving
* Penetration diving
* Cave diving
* Ice diving
* Wreck diving
* Recreational dive sites
* Underwater environment
Impact
* Environmental impact of recreational diving
* Low impact diving
Environmental
factors
* Algal bloom
* Currents:
* Current
* Longshore drift
* Ocean current
* Rip current
* Tidal race
* Undertow
* Upwelling
* Ekman transport
* Halocline
* Reef
* Coral reef
* Stratification
* Thermocline
* Tides
* Turbidity
* Wind wave
* Breaking wave
* Surf
* Surge
* Wave shoaling
Other
* Bathysphere
* Defense against swimmer incursions
* Diver detection sonar
* Offshore survey
* Underwater domain awareness
Awards and events
* Hans Hass Award
* International Scuba Diving Hall of Fame
* London Diving Chamber Dive Lectures
* NOGI Awards
Deep-submergence
vehicle
* Aluminaut
* DSV Alvin
* American submarine NR-1
* Bathyscaphe
* Archimède
* FNRS-2
* FNRS-3
* FNRS-4
* Harmony class bathyscaphe
* Sea Pole-class bathyscaphe
* Trieste II
* Deepsea Challenger
* Ictineu 3
* JAGO
* Jiaolong
* Konsul-class submersible
* DSV Limiting Factor
* Russian submarine Losharik
* Mir
* Nautile
* Pisces-class deep submergence vehicle
* DSV Sea Cliff
* DSV Shinkai
* DSV Shinkai 2000
* DSV Shinkai 6500
* DSV Turtle
* DSV-5 Nemo
Deep-submergence
rescue vehicle
* LR5
* LR7
* MSM-1
* Mystic-class deep-submergence rescue vehicle
* DSRV-1 Mystic
* DSRV-2 Avalon
* NATO Submarine Rescue System
* Priz-class deep-submergence rescue vehicle
* Russian deep submergence rescue vehicle AS-28
* Russian submarine AS-34
* ASRV Remora
* SRV-300
* Submarine Rescue Diving Recompression System
* Type 7103 DSRV
* URF (Swedish Navy)
Special
interest
groups
* Artificial Reef Society of British Columbia
* CMAS Europe
* Coral Reef Alliance
* Diving Equipment and Marketing Association
* Divers Alert Network
* Green Fins
* Historical Diving Society
* Karst Underwater Research
* Nautical Archaeology Program
* Nautical Archaeology Society
* Naval Air Command Sub Aqua Club
* Project AWARE
* Reef Check
* Reef Life Survey
* Rubicon Foundation
* Save Ontario Shipwrecks
* SeaKeys
* Sea Research Society
* Society for Underwater Historical Research
* Society for Underwater Technology
* Underwater Archaeology Branch, Naval History & Heritage Command
Submarine escape
and rescue
* Escape trunk
* International Submarine Escape and Rescue Liaison Office
* McCann Rescue Chamber
* Submarine Escape and Rescue system (Royal Swedish Navy)
* Submarine escape training facility
* Submarine Escape Training Facility (Australia)
* Submarine rescue ship
Neutral buoyancy
facilities for
Astronaut training
* Neutral Buoyancy Laboratory
* Neutral buoyancy pool
* Neutral buoyancy simulation as a training aid
* Neutral Buoyancy Simulator
* Space Systems Laboratory
* Yuri Gagarin Cosmonaut Training Center
Other
* Nautilus Productions
* Category
* Commons
* * Glossary
* Indexes: dive sites
* divers
* diving
* * Outline
* Portal
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Carbon monoxide poisoning
|
c0007020
| 25,122 |
wikipedia
|
https://en.wikipedia.org/wiki/Carbon_monoxide_poisoning
| 2021-01-18T19:08:20 |
{"mesh": ["D002249"], "icd-9": ["986"], "icd-10": ["T58"], "wikidata": ["Q125367"]}
|
Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Ketamine-induced biliary dilatation
|
c4512018
| 25,123 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=293807
| 2021-01-23T18:29:41 |
{}
|
Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Uveal melanoma
|
c0220633
| 25,124 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=39044
| 2021-01-23T17:56:34 |
{"gard": ["8621"], "mesh": ["C536494"], "omim": ["155720", "606660", "606661"], "umls": ["C0220633", "C0346373", "C0346388"], "icd-10": ["C69.3"], "synonyms": ["Choroidal melanoma", "Iris melanoma"]}
|
Seckel syndrome
Other namesHarper's syndrome
SpecialtyMedical genetics
Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow–Seckel dwarfism and bird-headed dwarf of Seckel[1]) is an extremely rare congenital nanosomic disorder. Inheritance is autosomal recessive.[2] It is characterized by intrauterine growth restriction and postnatal dwarfism with a small head, narrow bird-like face with a beak-like nose, large eyes with down-slanting palpebral fissures,[3] receding mandible and intellectual disability.
A mouse model has been developed.[4] This mouse model is characterized by a severe deficiency of ATR protein.[4] These mice suffer high levels of replicative stress and DNA damage. Adult Seckel mice display accelerated ageing.[4] These findings are consistent with the DNA damage theory of aging.
## Contents
* 1 Symptoms and signs
* 2 Genetics
* 3 Diagnosis
* 4 Treatment
* 5 History
* 6 See also
* 7 References
* 8 External links
## Symptoms and signs[edit]
Symptoms include:
* intellectual disability (more than half of the patients have an IQ below 50)
* microcephaly
* sometimes pancytopenia (low blood counts)
* cryptorchidism
* low birth weight
* dislocations of pelvis and elbow
* unusually large eyes
* low ears
* small chin
## Genetics[edit]
It is believed to be caused by defects of genes on chromosome 3 and 18. One form of Seckel syndrome can be caused by mutation in the gene encoding the ataxia telangiectasia and Rad3 related protein (ATR) which maps to chromosome 3q22.1-q24. This gene is central in the cell's DNA damage response and repair mechanism.
Types include:
Type OMIM Gene Locus
SCKL1 210600 ATR 3q22-q24
SCKL2 606744 ? 18p11-q11
SCKL3 608664 ? 14q
SCKL4 613676 CENPJ 13q12
## Diagnosis[edit]
This section is empty. You can help by adding to it. (December 2017)
## Treatment[edit]
This section is empty. You can help by adding to it. (December 2017)
## History[edit]
The syndrome was named after German- American physician Helmut Paul George Seckel[5] (1900–1960). The synonym Harper's syndrome was named after Rita G. Harper.[6][7]
## See also[edit]
* Koo-Koo the Bird Girl
## References[edit]
1. ^ Harsha Vardhan BG, Muthu MS, Saraswathi K, Koteeswaran D (2007). "Bird-headed dwarf of Seckel". J Indian Soc Pedod Prev Dent. 25 Suppl: S8–9. PMID 17921644.
2. ^ James Wynbrandt; Mark D. Ludman (February 2008). The encyclopedia of genetic disorders and birth defects. Infobase Publishing. pp. 344–. ISBN 978-0-8160-6396-3. Retrieved 7 January 2011.
3. ^ Jung M, Rai A, Wang L, Puttmann K, Kukreja K, Koh CJ (2018). "Nephrolithiasis in a 17-Year-Old Male With Seckel Syndrome and Horseshoe Kidneys: Case Report and Review of the Literature". Urology. 120: 241–243. doi:10.1016/j.urology.2018.05.023. PMID 29894776.
4. ^ a b c Murga M, Bunting S, Montaña MF, et al. (August 2009). "A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging". Nat. Genet. 41 (8): 891–8. doi:10.1038/ng.420. PMC 2902278. PMID 19620979.
5. ^ Seckel, H. P. G. Bird-headed Dwarfs: Studies in Developmental Anthropology Including Human Proportions. Springfield, Ill.: Charles C Thomas (pub.) 1960.
6. ^ "Seckel's syndrome".
7. ^ Harper RG, Orti E, Baker RK (May 1967). "Bird-beaded dwarfs (Seckel's syndrome). A familial pattern of developmental, dental, skeletal, genital, and central nervous system anomalies". J. Pediatr. 70 (5): 799–804. doi:10.1016/S0022-3476(67)80334-2. PMID 6022184.
## External links[edit]
* Seckel's syndrome at Who Named It?
Classification
D
* ICD-10: Q87.1
* ICD-9-CM: 759.89
* OMIM: 210600
* DiseasesDB: 31625
External resources
* Orphanet: 808
* v
* t
* e
Congenital abnormality syndromes
Craniofacial
* Acrocephalosyndactylia
* Apert syndrome
* Carpenter syndrome
* Pfeiffer syndrome
* Saethre–Chotzen syndrome
* Sakati–Nyhan–Tisdale syndrome
* Bonnet–Dechaume–Blanc syndrome
* Other
* Baller–Gerold syndrome
* Cyclopia
* Goldenhar syndrome
* Möbius syndrome
Short stature
* 1q21.1 deletion syndrome
* Aarskog–Scott syndrome
* Cockayne syndrome
* Cornelia de Lange syndrome
* Dubowitz syndrome
* Noonan syndrome
* Robinow syndrome
* Silver–Russell syndrome
* Seckel syndrome
* Smith–Lemli–Opitz syndrome
* Snyder–Robinson syndrome
* Turner syndrome
Limbs
* Adducted thumb syndrome
* Holt–Oram syndrome
* Klippel–Trénaunay–Weber syndrome
* Nail–patella syndrome
* Rubinstein–Taybi syndrome
* Gastrulation/mesoderm:
* Caudal regression syndrome
* Ectromelia
* Sirenomelia
* VACTERL association
Overgrowth syndromes
* Beckwith–Wiedemann syndrome
* Proteus syndrome
* Perlman syndrome
* Sotos syndrome
* Weaver syndrome
* Klippel–Trénaunay–Weber syndrome
* Benign symmetric lipomatosis
* Bannayan–Riley–Ruvalcaba syndrome
* Neurofibromatosis type I
Laurence–Moon–Bardet–Biedl
* Bardet–Biedl syndrome
* Laurence–Moon syndrome
Combined/other,
known locus
* 2 (Feingold syndrome)
* 3 (Zimmermann–Laband syndrome)
* 4/13 (Fraser syndrome)
* 8 (Branchio-oto-renal syndrome, CHARGE syndrome)
* 12 (Keutel syndrome, Timothy syndrome)
* 15 (Marfan syndrome)
* 19 (Donohue syndrome)
* Multiple
* Fryns syndrome
* v
* t
* e
Deficiencies of intracellular signaling peptides and proteins
GTP-binding protein regulators
GTPase-activating protein
* Neurofibromatosis type I
* Watson syndrome
* Tuberous sclerosis
Guanine nucleotide exchange factor
* Marinesco–Sjögren syndrome
* Aarskog–Scott syndrome
* Juvenile primary lateral sclerosis
* X-Linked mental retardation 1
G protein
Heterotrimeic
* cAMP/GNAS1: Pseudopseudohypoparathyroidism
* Progressive osseous heteroplasia
* Pseudohypoparathyroidism
* Albright's hereditary osteodystrophy
* McCune–Albright syndrome
* CGL 2
Monomeric
* RAS: HRAS
* Costello syndrome
* KRAS
* Noonan syndrome 3
* KRAS Cardiofaciocutaneous syndrome
* RAB: RAB7
* Charcot–Marie–Tooth disease
* RAB23
* Carpenter syndrome
* RAB27
* Griscelli syndrome type 2
* RHO: RAC2
* Neutrophil immunodeficiency syndrome
* ARF: SAR1B
* Chylomicron retention disease
* ARL13B
* Joubert syndrome 8
* ARL6
* Bardet–Biedl syndrome 3
MAP kinase
* Cardiofaciocutaneous syndrome
Other kinase/phosphatase
Tyrosine kinase
* BTK
* X-linked agammaglobulinemia
* ZAP70
* ZAP70 deficiency
Serine/threonine kinase
* RPS6KA3
* Coffin-Lowry syndrome
* CHEK2
* Li-Fraumeni syndrome 2
* IKBKG
* Incontinentia pigmenti
* STK11
* Peutz–Jeghers syndrome
* DMPK
* Myotonic dystrophy 1
* ATR
* Seckel syndrome 1
* GRK1
* Oguchi disease 2
* WNK4/WNK1
* Pseudohypoaldosteronism 2
Tyrosine phosphatase
* PTEN
* Bannayan–Riley–Ruvalcaba syndrome
* Lhermitte–Duclos disease
* Cowden syndrome
* Proteus-like syndrome
* MTM1
* X-linked myotubular myopathy
* PTPN11
* Noonan syndrome 1
* LEOPARD syndrome
* Metachondromatosis
Signal transducing adaptor proteins
* EDARADD
* EDARADD Hypohidrotic ectodermal dysplasia
* SH3BP2
* Cherubism
* LDB3
* Zaspopathy
Other
* NF2
* Neurofibromatosis type II
* NOTCH3
* CADASIL
* PRKAR1A
* Carney complex
* PRKAG2
* Wolff–Parkinson–White syndrome
* PRKCSH
* PRKCSH Polycystic liver disease
* XIAP
* XIAP2
See also intracellular signaling peptides and proteins
* v
* t
* e
Nucleus diseases
Telomere
* Revesz syndrome
Nucleolus
* Treacher Collins syndrome
* Spinocerebellar ataxia 7
* Cajal body: Spinal muscular atrophy
Centromere
* CENPJ
* Seckel syndrome 4
Other
* AAAS
* Triple-A syndrome
* Laminopathy
* SMC1A/SMC3
* Cornelia de Lange Syndrome
* SETBP1
* Schinzel–Giedion syndrome
see also nucleus
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Seckel syndrome
|
c0265202
| 25,125 |
wikipedia
|
https://en.wikipedia.org/wiki/Seckel_syndrome
| 2021-01-18T19:04:40 |
{"gard": ["8562"], "orphanet": ["808"], "wikidata": ["Q572169"]}
|
Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.
## Epidemiology
Prevalence of severe protein C deficiency (homozygous or compound heterozygous forms) is estimated at 1/ 500,000. Partial deficiencies (heterozygous forms) are much more frequent (1/200-1/500). Men and women are equally affected.
## Clinical description
Patients with undetectable protein C levels usually manifest the disease several hours to days after birth, with purpura fulminans (see this term) or massive venous thrombosis. Purpura fulminans is a life-threatening condition involving severe clotting throughout the body and causing necrosis of tissues. Patients with low but detectable protein C levels have milder symptoms generally similar to those of heterozygous individuals. Usually, patients with heterozygous protein C deficiency are asymptomatic until adulthood. Thrombotic episodes are mainly provoked by other risk factors such as surgery, pregnancy or immobilization. Deep vein thrombosis of the lower limbs with or without pulmonary embolism is the most common manifestation of the disease. Cerebral or mesenteric venous thrombosis may also occur.
## Etiology
Protein C deficiency is caused by mutations in the PROC (2q13-q14) gene controlling the production of protein C. Transmission is autosomal recessive.
## Diagnostic methods
Diagnosis is based on the measurement of protein C levels. Protein C activity levels range from 0 to 30% in case of severe deficiencies and from 30 to 70% in case of partial defects. There are two biological forms of the disease. Type I deficiency is characterized by concordant reduction in protein C activity and antigen. In type II deficiency, protein C activity is reduced but protein C antigen is normal. Molecular testing is available, but is unnecessary for diagnosis.
## Differential diagnosis
Differential diagnoses include other inherited thrombophilias including antithrombin and protein S deficiencies (see these terms).
## Antenatal diagnosis
Antenatal diagnosis is feasible for families with affected children and is based on the identification of the causal mutation on DNA obtained by chorionic villus sampling.
## Management and treatment
Administration of protein C concentrates or fresh frozen plasma is critical for the initial treatment of neonatal purpura fulminans. Surgical procedures may be required for excision of thrombotic lesions. Patients with thromboses are treated with anticoagulant therapy (heparin, warfarin). Attention should be paid to the risk of coumarin-induced skin necrosis. Preventive treatment is indicated in cases with a strong positive family history of thrombotic diseases, during the peripartum period or perioperatively.
## Prognosis
Prognosis may be severe in homozygous or compound heterozygous patients. Prognosis is good for heterozygous patients. With adequate treatment and monitoring, the risk of thromboembolic disease is markedly reduced. Mortality may result from pulmonary embolism.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Severe hereditary thrombophilia due to congenital protein C deficiency
|
c0398625
| 25,126 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=745
| 2021-01-23T17:10:17 |
{"mesh": ["D020151"], "omim": ["176860", "612304"], "umls": ["C0398625", "C2930896"], "icd-10": ["D68.2"], "synonyms": ["Autosomal recessive thrombophilia due to PC deficiency", "Autosomal recessive thrombophilia due to congenital protein C deficiency"]}
|
A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma.
## Epidemiology
To date, less than 150 cases have been described.
## Clinical description
Nephropathy is the hallmark of the disease. It develops during childhood presenting as persistent proteinuria and subsequently steroid-resistant nephrotic syndrome (SRNS) and progresses to end-stage renal disease (ESRD) in the second or third decade of life. On renal biopsy, focal segmental glomeruloscrelosis (FSGS) is the most common histopathological finding. Individuals have a 46, XY karyotype and present with female external genitalia, complete gonadal dysgenesis and have a higher risk of gonadoblastoma. These individuals are later evaluated for delayed puberty or primary amenorrhea. Since (modest) breast development occurs also without estrogen stimulus, failure to recognize a delayed puberty is not rare. In addition, the clinical picture may be confused by attributing pubertal delay to previous immunosuppressive therapy, renal insufficiency itself or renal transplantation. Complete gonadal dysgenesis results in infertility, female external genitalia and presence of Mullerian structures. Wilms tumor is not common in individuals with Frasier syndrome.
## Etiology
Frasier syndrome has been associated to specific pathogenic variants affecting nucleotides 4-5 of the intron 9 (previously referred to as IVS9+4; IVS9+5) in the WT1 gene (11p13). WT1 encodes for a protein that serves as regulatory transcription factor important both for renal and gonadal development.
## Diagnostic methods
The diagnosis is suspected on childhood onset of progressive glomerulopathy with findings of FSGS on histological analysis. Phenotypic females with delayed puberty or primary amenorrhea, should be carefully evaluated for signs of nephropathy. When the clinical findings suggest the diagnosis of WT1 associated disorders, single gene testing of the hotspot 8-9 exons with adjacent introns can be performed. Karyotype testing is recommended for all individuals with WT1 intron 9 pathogenic variants.
## Differential diagnosis
The main differential diagnosis is idiopathic steroid-resistant nephrotic syndrome, and other WT1 associated diseases including Denys-Drash syndrome, genetic steroid resistant nephrotic syndrome and disorders of testicular development.
## Genetic counseling
Most affected individuals have a de novo pathogenic variant and hence negative family history; however, autosomal dominant inheritance has been reported. Where karyotyping is indicated, pre-testing genetic counselling on the possibility of detecting sex reversal should be offered.
## Management and treatment
Management is multidisciplinary and should involve a nephrologist for management of chronic renal failure (initially with nephroprotective medical therapy and afterwards with renal replacement therapies or transplantation when ESRD occurs), an endocrinologists for treatment of associated disorder of testicular development, and oncologists and surgeons to evaluate the need for an early gonadectomy in order to prevent tumorigenesis. Preemptive bilateral gonadectomy at the time of renal transplant or placement of a peritoneal dialysis catheter might be an option.
## Prognosis
There is limited information on life expectancy. After kidney transplantation, nephrotic syndrome does not recur. 46,XY individuals with complete gonadal dysgenesis are infertile.
* European Reference Network
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Frasier syndrome
|
c0950122
| 25,127 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=347
| 2021-01-23T18:04:42 |
{"gard": ["2375"], "mesh": ["D052159"], "omim": ["136680"], "umls": ["C0950122"], "icd-10": ["N04.1"]}
|
A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Senior-Boichis syndrome
|
c3150796
| 25,128 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=84081
| 2021-01-23T18:43:58 |
{"omim": ["613550", "616217"], "synonyms": ["Boichis disease", "Nephronophthisis-hepatic fibrosis syndrome"]}
|
A number sign (#) is used with this entry because of evidence that isolated microphthalmia-6 (MCOP6) is caused by homozygous or compound heterozygous mutation in the PRSS56 gene (613858) on chromosome 2q37.
Description
Autosomal recessive isolated posterior microphthalmos defines a rare distinct phenotype restricted to the posterior segment of the eye. In adults, it is clinically characterized by extreme hyperopia (from +7.5 to +21 diopters) due to short axial length (14 mm to 20 mm; normal is greater than 21 mm). Other features include an essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. The palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical discs, tortuous vessels, and an abnormal foveal avascular zone; in addition, papillomacular folds are often reported. Morphometric features of the small eyes predispose to complications such as narrow-angle glaucoma and uveal effusion (summary by Gal et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of isolated microphthalmia, see MCOP1 (251600).
Nomenclature
The term 'posterior microphthalmos' was introduced by Franceschetti and Gernet (1965) and later applied to several cases of small eyes with normal-sized anterior segments. Other authors used the designation 'nanophthalmos' (see NNO1, 600165), while Warburg (1993) preferred to label such eyes as 'partial microphthalmos' (summary by Fuchs et al., 2005).
Clinical Features
Fuchs et al. (2005) reported 2 families from the Faroe Islands, 1 of which had previously been studied by Fledelius and Rosenberg (1987), in which affected individuals exhibited a rare ocular phenotype characterized by a short axial length (less than 21 mm), mainly confined to the posterior segment of the eye; a shallow anterior chamber; a thickened eye wall; and very high hyperopia (median, +16.5 diopters (D); range, +7.75 D to +22 D). The morphologic characteristics predisposed to sight-threatening complications such as angle-closure glaucoma, chorioretinal pathology including uveal effusion, strabismus, and amblyopia. Fuchs et al. (2005) concluded that endemic high prevalence in the Faroe Islands suggested the presence of a founder effect, and that further genetic research would probably indicate pseudodominant rather than dominant transmission in these families.
Hmani-Aifa et al. (2009) studied 6 consanguineous Tunisian families segregating autosomal recessive nonsyndromic posterior microphthalmia. All affected individuals had an identical bilateral phenotype characterized by foreshortening of the eye axial length with normal corneal diameters. Findings in most patients included high hyperopia and an elevated papillomacular retinal fold; other changes included reduction of the capillary-free zone, crowded optic disc, macular pigment migration, and 2 cases of uveal effusion. Two patients developed age-related cataracts. Funduscopy and fluorescein angiography excluded other optic anomalies, and no systemic symptoms were observed in any of the affected individuals. There was no significant inter- or intrafamilial phenotypic variation.
Gal et al. (2011) studied a large consanguineous Tunisian family in which 5 of 11 children were affected. Features included nanophthalmos (see 600165) with microcornea, shallow anterior chamber and angle, extreme hyperopia, short axial length, high lens/eye volume ratio, thick sclera and choroid, and absence of overt structural defects. Fundus abnormality was seen in 5 eyes, involving a papillomacular fold in 3 eyes, choroidal neovascular membrane in 1 eye, and a central venous occlusion secondary to angle-closure glaucoma in 1 eye. The authors noted that the phenotype of the Tunisian families reported by Hmani-Aifa et al. (2009) differed from the phenotype in this family with respect to normal corneal diameters and steepness in the former. In addition, Gal et al. (2011) studied 4 Faroese patients from 2 large pedigrees, 1 originally reported by Fledelius and Rosenberg (1987) and 1 previously studied by Fuchs et al. (2005), and 23 sporadic Faroese patients, all of whom had a phenotype that was very similar to that of their Tunisian family except for having corneal diameters that were in the lower range of normal. Gal et al. (2011) suggested that a distinction between posterior microphthalmos and nanophthalmos might be artificial, and that the 2 conditions might represent a continuum of phenotypes.
Nair et al. (2011) restudied the 6 Tunisian families originally reported by Hmani-Aifa et al. (2009), including 25 patients with posterior microphthalmia and 88 unaffected relatives. They observed that 4 affected individuals from 2 of the families (PM2 and PM3) had elevated intraocular pressure, with levels ranging from 26 mmHg to 30 mmHg. In addition, 2 affected individuals from another family (PM1) displayed optic nerve excavation.
Orr et al. (2011) ascertained 3 families, 2 from Maritime Canada and 1 from Mexico, segregating an autosomal recessive ocular phenotype of nonsyndromic nanophthalmos. In the first Canadian family, the 4 affected sibs had very small eyes that ranged from approximately 15 to 16 mm in axial length, with correspondingly severe hyperopia. Anterior chambers appeared shallow in all sibs, with angles rated as 'narrow, but not occludable.' The crystalline lenses were large, displacing the iris anteriorly, but there were no instances of angle-closure glaucoma, and intraocular pressures remained normal. Three sibs underwent dilated examinations, which showed small and congested optic nerves without a discernible cup and grossly normal maculae, although no foveal reflex was seen. Further evaluation in 1 sib showed normal color vision and thinning of the central cornea. Electrodiagnostics performed in that sib showed normal visual evoked potentials with nonspecific reduction in the amplitude of electroretinography (ERG) potentials. Ultrasound showed diffuse thickening of the choroid in all 4 quadrants. Optical coherence tomography (OCT) revealed a grossly normal macula that lacked a foveal depression. In the second Canadian family, an affected sister and brother had longer axial lengths than those in the first family (17 mm), and less severe hyperopia. Both had glaucoma. The brother showed thinning of the central cornea; his optic nerves were small and congested, but the posterior pole was morphologically normal. There were 3 affected sibs in the Mexican family. The proband presented with features of chronic angle closure, retinal vascular tortuosity, asteroid hyalosis, small optic nerve, absence of macular reflex, and choroidal thickening. Another sib had a shallow anterior chamber but declined further examination. No obvious phenotypic carrier state was observed in any of the relatives in the 3 families.
Nowilaty et al. (2013) examined the eyes of 25 patients from 13 families diagnosed with posterior microphthalmia, including 7 families previously studied by Aldahmesh et al. (2011). All affected individuals had high hyperopia of 8 diopters or more, normal-appearing anterior segment, anterior chamber of normal dimensions, normal corneal thickness, posterior chamber foreshortening, and characteristic papillomacular folds/wrinkles. None of the patients had glaucoma, night blindness, clinical signs of retinal degeneration, developmental ocular malformations, or syndromic disease. Nowilaty et al. (2013) also observed corneal steepening proportional to the degree of axial foreshortening. The authors stated that the fact that corneal diameter decreases with decreasing axial length provides further evidence that posterior microphthalmia and nanophthalmos represent a spectrum of high hyperopia rather than distinct phenotypes.
Mapping
In 6 consanguineous Tunisian families segregating autosomal recessive nonsyndromic posterior microphthalmia (MCOP6), Hmani-Aifa et al. (2009) performed sequencing and haplotype analysis to exclude known genes and loci for posterior microphthalmos and other developmental eye defects, including the MFRP (606227) and SOX2 (184429) genes and the MCOP1 (251600) and NNO1 (600165) loci. A genomewide scan in a subfamily from 1 extended pedigree revealed 8 homozygous candidate regions; haplotype analysis confirmed linkage to chromosome 2q37.1, with a maximum lod score of 8.85 for D2S2344 (theta = 0.00). Genotyping of parents and all available family members revealed that 4 more families were linked to this region, and an ancient recombination event in 1 family defined a 2.35-Mb critical interval. A shared haplotype suggested the presence of a founder mutation responsible for the posterior microphthalmia phenotype in the families under study; 5 candidate genes were screened but no disease-causing mutation was found.
Gal et al. (2011) genotyped all available members of 2 large Faroese families with autosomal recessive posterior microphthalmia for 9 markers on chromosome 2q37.1, in an approximately 25-cM region between D2S427 and D2S395. Close linkage without recombination was observed between MCOP6 and D2S2344, with a maximum lod score of 4.79 (theta = 0.0). Analysis of multiple informative meioses in the 2 Faroese families assigned MCOP6 to an approximate 1.5-Mb region between D2S2193 and D2S206.
Nair et al. (2011) restudied the 6 Tunisian families with posterior microphthalmia originally reported by Hmani-Aifa et al. (2009) and further refined the linkage interval to a 0.93-Mb critical region on chromosome 2q37.
Aldahmesh et al. (2011) studied 6 consanguineous unrelated Saudi families with posterior microphthalmia. Twenty affected individuals had eyes with an abnormally short axial length by standardized ultrasonography, normal corneal diameters and anterior segment appearance, high hyperopia, and an abnormal papillomacular retinal fold on ophthalmoscopy. Linkage to MFRP was excluded in all 6 consanguineous families; however, a single run of homozygosity on chromosome 2q37 was shared among 5 of the 6 families, for which a lod score of 5.73 was obtained. The 17.2-Mb locus was flanked by SNPs rs6716235 and rs13009438. No pathogenic sequence variants were identified in any of the 8 genes contained in this interval.
In a family from the Maritime provinces of Canada segregating autosomal recessive nonsyndromic nanophthalmos, Orr et al. (2011) performed a whole-genome scan using microsatellite markers; homozygosity mapping suggested linkage to chromosome 2q. Whole-genome genotyping with SNP markers in this family and a second affected family from Maritime Canada identified the same region at 2q37, yielding a combined multipoint heterogeneity lod score of 4.7.
Molecular Genetics
In a large consanguineous Tunisian family segregating autosomal recessive posterior microphthalmos, Gal et al. (2011) analyzed the candidate gene PRSS56 and identified a homozygous 1-bp duplication that segregated with the disease (613858.0001). Analysis of PRSS56 in 27 Faroese patients from 25 families revealed that all but 1 patient were homozygous or compound heterozygous for 2 mutations, W309S (613858.0002) and R176G (613858.0003), respectively. None of the mutations was found in 100 German controls, but 3 of 94 Faroese controls were heterozygous for W309S, corresponding to a heterozygote frequency of 3.2%. Genealogic studies identified a married couple from the 1600s as ancestors of the parents of all affected Faroese individuals carrying W309S in homozygous or heterozygous state. No PRSS56 mutation was detected in 1 patient from the Faroe Islands or in 1 patient from Turkey, suggesting genetic heterogeneity for posterior microphthalmia.
In 6 Tunisian families with posterior microphthalmia mapping to chromosome 2q37, originally reported by Hmani-Aifa et al. (2009), Nair et al. (2011) screened 18 candidate genes and identified homozygosity for a 1-bp insertion in the PRSS56 gene (1066insC; 613858.0001) in 5 of the 6 families. In the sixth family (PM6), they identified homozygosity for a missense mutation in PRSS56 (P599A; 613858.0004). Neither mutation was found in population-matched controls.
In affected members of 2 unrelated families from Maritime Canada segregating autosomal recessive nanophthalmos mapping to chromosome 2q37, who were negative for mutations in the MFRP (606227) and BEST1 (607854) genes, Orr et al. (2011) identified homozygosity for a missense mutation in the PRSS56 gene (G320R; 613858.0005) and compound heterozygosity for a missense (V302F; 613858.0006) and a frameshift (c.833insG; 613858.0007) mutation in PRSS56, respectively. Affected sibs from a Mexican family with nanophthalmos were found to be compound heterozygous for missense mutations in PRSS56 (G237R, 613858.0008; C395R, 613858.0009). The mutations segregated with disease in the 2 Canadian families; family members were unavailable for study in the Mexican family. Orr et al. (2011) analyzed the PRSS56 and MFRP genes in a second Mexican family with nanophthalmos but did not find any mutations, suggesting the possibility of additional genetic heterogeneity.
In affected individuals from 5 Saudi Arabian families with posterior microphthalmia, including 3 families previously mapped to chromosome 2q37 by Aldahmesh et al. (2011), Nowilaty et al. (2013) identified homozygosity for the 1066insC mutation in the PRSS56 gene. In patients from 3 more Saudi families, they identified homozygosity for missense mutations in PRSS56 (see, e.g., 613858.0010). Another Saudi family was homozygous for a frameshift mutation in the MFRP gene, whereas in 3 families with posterior microphthalmia, no pathogenic variants were found in either PRSS56 or MFRP. The authors observed that truncating mutations were associated with a more severe phenotype (greater axial foreshortening) than nontruncating mutations. Noting that recessive mutations in MFRP and PRSS56 cause posterior microphthalmia or nanophthalmos, Nowilaty et al. (2013) suggested that these phenotypes represent a spectrum of hyperopia rather than 2 distinct conditions.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Foreshortening of axial length of eyes (bilateral) \- Microcornea (in some patients) \- High hyperopia \- Shallow anterior chamber and angle (in some patients) \- Elevated intraocular pressure (in some patients) \- Steep corneas \- Thinning of central cornea (in some patients) \- High lens-to-eye volume ratio \- Thick sclera \- Thick choroid \- Elevated papillomacular retinal fold \- Reduction of capillary-free zone \- Crowded optic disc \- Optic nerve excavation (rare) \- Macular pigment migration \- Uveal effusion (rare) \- Spontaneous hyphema (rare) MISCELLANEOUS \- Corneal steepening is proportional to the degree of axial foreshortening \- Corneal diameter decreases with decreasing axial length MOLECULAR BASIS \- Caused by mutation in serine protease 56 gene (PRSS56, 613858.0001 ) ▲ 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
|
MICROPHTHALMIA, ISOLATED 6
|
c1855052
| 25,129 |
omim
|
https://www.omim.org/entry/613517
| 2019-09-22T15:58:33 |
{"doid": ["0060835"], "mesh": ["C565377"], "omim": ["251600", "613517"], "icd-10": ["Q11.2"], "orphanet": ["35612", "2542"], "synonyms": ["MICROPHTHALMIA, POSTERIOR NONSYNDROMIC", "Microphthalmia-anophthalmia-coloboma spectrum", "Isolated anophthalmia-microphthalmia syndrome", "Alternative titles", "MAC spectrum"]}
|
Chopart's fracture–dislocation
SpecialtyOrthopedic
Chopart's fracture–dislocation is a dislocation of the mid-tarsal (talonavicular and calcaneocuboid) joints of the foot, often with associated fractures of the calcaneus, cuboid and navicular.[1]
## Contents
* 1 Presentation
* 2 Mechanism
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 See also
* 7 References
## Presentation[edit]
* The foot is usually dislocated medially (80%) and superiorly, which occurs when the foot is plantar flexed and inverted.
* Lateral displacement occurs during eversion injuries.
* Associated fractures of calcaneus, cuboid and navicular are frequent.
* Open fractures occur in a small percentage.
## Mechanism[edit]
Chopart's fracture–dislocation is usually caused by falls from height, traffic collisions and twisting injuries to the foot as seen in basketball players.[citation needed]
## Diagnosis[edit]
Diagnosis is made on plain radiograph of the foot, although the extent of injury is often underestimated.[2]
## Treatment[edit]
Treatment comprises early reduction of the dislocation, and frequently involves open reduction internal fixation to restore and stabilise the talonavicular joint. Open reduction and fusion of the calcaneocuboid joint is occasionally required.[3]
## Prognosis[edit]
With prompt treatment, particularly open reduction, and early mobilisation the outcome is generally good.[4] High energy injuries and associated fractures worsen the outcome.[5]
## See also[edit]
* François Chopart
## References[edit]
1. ^ Chopart's Fracture Dislocation at LearningRadiology.com
2. ^ Swords, MP; Schramski M; Switzer K; Nemec S (Dec 2008). "Chopart fractures and dislocations". Foot Ankle Clin. 13 (4): 679–93, viii. doi:10.1016/j.fcl.2008.08.004. PMID 19013402.
3. ^ Klaue, K (Sep 2004). "Chopart fractures". Injury. 35 Suppl 2 (2): SB64–70. doi:10.1016/j.injury.2004.07.013. PMID 15315880.
4. ^ Richter, M; Wippermann B; Krettek C; Schratt HE; Hufner T; Therman H (May 2001). "Fractures and fracture dislocations of the midfoot: occurrence, causes and long-term results". Foot Ankle Int. 22 (5): 392–8. doi:10.1177/107110070102200506. PMID 11428757.
5. ^ Kumagai, S; Fitzgibbons TC; McMullen ST; Heiser D (Apr 1996). "Chopart's fracture dislocation: a case report and review of the literature". Nebr Med J. 81 (4): 116–9. PMID 8628450.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Chopart's fracture–dislocation
|
None
| 25,130 |
wikipedia
|
https://en.wikipedia.org/wiki/Chopart%27s_fracture%E2%80%93dislocation
| 2021-01-18T19:07:03 |
{"umls": ["CL427942"], "wikidata": ["Q5104815"]}
|
A rare genetic renal disease characterized by the formation of intraglomerular lipoprotein thrombi due to lipid deposition in severely dilated glomerular capillaries. Laboratory examination reveals abnormal serum lipid profiles, in particular markedly elevated apolipoprotein E. Clinical manifestations include proteinuria or nephrotic syndrome with hypertension and potential progression to chronic renal failure. Systemic complications of dyslipidemia are not observed.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Lipoprotein glomerulopathy
|
c2673196
| 25,131 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=329481
| 2021-01-23T17:37:00 |
{"mesh": ["C567089"], "omim": ["611771"], "umls": ["C2673196"], "icd-10": ["N07.8"], "synonyms": ["LPG"]}
|
A number sign (#) is used with this entry because phosphoglycerate kinase-1 deficiency is caused by mutation in the PGK1 gene (311800).
Description
Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).
Clinical Features
Kraus et al. (1968) attributed lifelong anemia in a 63-year-old Caucasian woman to deficiency of red cell phosphoglycerate kinase. Although no relatives were available for study, the proband's mother and 2 of her sibs had a history of anemia. Valentine et al. (1969) found hemolytic anemia with deficient red and white cell phosphoglycerate kinase in a large Chinese kindred. Mild hemolysis was present in presumed heterozygotes.
Guis et al. (1987) reported a boy with hemolytic anemia but no neuromuscular manifestations who was found to have a PGK variant termed 'San Francisco.' The anemia was severe and partially transfusion dependent. Guis et al. (1987) suggested that unusual stability of the mutant enzyme and a continuing ability to synthesize at least limited amounts of enzyme had protected nonerythroid tissues. In contrast, mature red cells, lacking the ability to synthesize new proteins, had a severely compromised life span.
Rosa et al. (1982) reported a man with episodes of rhabdomyolysis and acute renal failure who did not have hemolysis. He had a severe deficiency of PGK in muscle, white blood cells, red blood cells, and platelets. His mother and 2 daughters had a partial enzyme defect in red blood cells, suggesting X-linked recessive transmission. DiMauro et al. (1983) reported a 14-year-old boy with recurrent myoglobinuria and renal failure after intense exercise. Muscle PGK activity was 5% of normal values in the patient and was decreased in his mother but normal in his father.
Tonin et al. (1993) reported a 37-year-old man with exercise intolerance, myalgia, recurrent myoglobinuria, and retinitis pigmentosa who had decreased PGK activity.
Sugie et al. (1994) demonstrated PGK deficiency in 3 unrelated men who presented with myoglobinuria. All 3 were mentally retarded, and 2 had epilepsy. The patient who did not have epilepsy was the only one of the 3 who showed any hemolytic anemia. Sugie et al. (1994) noted that organ-specific isozymes or posttranslational modification are not the explanation for the variable involvement of hematopoietic, muscle and nervous tissue since enzymes derived from different tissues in the same individual do not differ in physical and biochemical characteristics. The variable clinical features of the disease were thought to be the consequence of the unique biochemical properties of the individual PGK mutants.
Noel et al. (2005) reported 2 unrelated boys of Spanish origin with PGK1 deficiency. At the age of 2 years, the first child was hospitalized for a febrile episode associated with severe anemia and jaundice, for which exchange transfusion was given. Subsequently, several similar hemolytic crises occurred, mainly due to viral infections, and exchange transfusion was required on 2 occasions. Due to the persistence of the microcytosis, a molecular study for thalassemia was performed, leading to the secondary diagnosis of heterozygosity for the alpha(-3.7) mutation. At 7 years of age the hemolytic crises were associated with a progressive neurologic impairment leading to mental deterioration. No muscular dystrophy could be demonstrated. The second child, who was from Murcia, had required blood transfusions from birth every 3 to 4 weeks for hemolytic anemia. The diagnosis of PGK deficiency was made when he was 6 years old. An older sister and younger brother were healthy and the mother had a history of 2 previous abortions. Accordingly, the patient's mother had been strictly monitored during the antenatal period because of the risk of abortion at the tenth week of gestation, and the patient was delivered by cesarean section. There was severe neonatal anemia, hyperbilirubinemia, hepatosplenomegaly, and purpura requiring intensive care. At 2 years of age, the patient was hospitalized due to a hemolytic crisis in association with severe encephalopathy without environmental cause, spastic tetraparesis, and psychomotor delay. The anemia was associated with severe and progressive encephalopathy with cortical and subcortical atrophy verified by cranial CT, and epileptic crises. He died of severe encephalopathy at 7 years of age.
Flanagan et al. (2006) reported 2 boys of a white American family with PGK1 deficiency who presented with hemolytic anemia, seizures, and developmental delay. One of the boys also had hemiplegic migraines, retinal dystrophy, and muscle fatigue after exertion. Erythrocyte PGK enzyme activity was less than 5% of normal. Genetic analysis identified a mutation in the PGK1 gene (311800.0013).
Shirakawa et al. (2006) reported a 33-year-old Japanese man with PGK1 deficiency manifesting as mental retardation and exertional myopathy, but without hemolytic anemia. He also had short stature, high-arched palate, and brachydactyly. Laboratory studies showed no evidence of hemolytic anemia, but serum creatine kinase and myoglobin were increased. PGK1 activity was 9.0% and 13.6% of control values in muscle and red blood cells, respectively. PGK1 activity in red blood cells of his mother was 60.7%.
Spiegel et al. (2009) reported an 18-year-old man of Arab Bedouin descent with PGK1 deficiency confirmed by genetic analysis (T378P; 311800.0015). He had a purely myopathic phenotype, with onset of muscle cramps and exercise-induced pigmenturia at age 7 years. He had no evidence of hemolytic anemia or neurologic involvement; serum creatine kinase was increased. Biochemical studies showed decreased PGK1 activity in muscle (0.9% of control values) and erythrocytes (1.6%). The patient's unaffected mother and 2 sisters were heterozygous for the mutation.
Molecular Genetics
In a patient with chronic hemolytic anemia associated with deficiency of PGK activity, Fujii and Yoshida (1980) used peptide mapping analysis to identify an R206P substitution (311800.0002) in the PGK1 protein.
In a 27-year-old Japanese male with PGK1 deficiency, Fujii et al. (1992) identified a mutation in the PGK1 gene (311800.0006). The patient had chronic hemolytic anemia and myoglobinuria, manifested by nausea, anorexia, and muscle weakness after exercise, beginning at the age of 10. There was no family history of anemia or neuromuscular disease.
In affected members of the Chinese family reported by Valentine et al. (1969), Turner et al. (1995) identified a mutation in the PGK1 gene (311800.0013).
In a patient with PGK1 deficiency manifest as myopathy (Sugie et al., 1989), Sugie et al. (1998) identified a mutation in the PGK1 gene (311800.0009).
In 2 unrelated patients of Spanish origin with PGK1 deficiency manifest as severe lifelong chronic hemolytic anemia and progressive neurologic impairment, Noel et al. (2005) identified 2 different mutations in the PGK1 gene (311800.0011 and 311800.0012, respectively).
In a Japanese man with PGK1 deficiency, Shirakawa et al. (2006) identified a mutation in the PGK1 gene (311800.0014). He had mental retardation and recurrent myoglobinuria, but no hemolytic anemia.
INHERITANCE \- X-linked recessive HEAD & NECK Eyes \- Retinal dystrophy (rare) \- Loss of vision (rare) GENITOURINARY Kidneys \- Renal failure may occur with myoglobinuria MUSCLE, SOFT TISSUES \- Myopathy in approximately 45% of patients \- Muscle cramps with exercise \- Rhabdomyolysis \- Exercise intolerance NEUROLOGIC Central Nervous System \- Central nervous system involvement in approximately 50% of patients \- Developmental delay \- Mental retardation \- Speech delay \- Seizures \- Hemiplegic migraines \- Ataxia Behavioral Psychiatric Manifestations \- Emotional instability HEMATOLOGY \- Hemolytic anemia in approximately 60% of patients LABORATORY ABNORMALITIES \- Myoglobinuria after exertion \- Decreased hemoglobin \- Increased serum bilirubin \- Increased reticulocyte count \- Decreased activity of phosphoglycerate kinase 1 MISCELLANEOUS \- Highly variable phenotype \- Variable age at onset (range infancy to adult) \- Heterozygous females may exhibit variable degrees of enzyme deficiency MOLECULAR BASIS \- Caused by mutation in the phosphoglycerate kinase 1 gene (PGK1, 311800.0002 ). ▲ 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
|
PHOSPHOGLYCERATE KINASE 1 DEFICIENCY
|
c1970848
| 25,132 |
omim
|
https://www.omim.org/entry/300653
| 2019-09-22T16:19:51 |
{"mesh": ["C567067"], "omim": ["300653"], "orphanet": ["713"], "synonyms": ["Alternative titles", "PGK1 DEFICIENCY"]}
|
A number sign (#) is used with this entry because of evidence that Skraban-Deardorff syndrome (SKDEAS) is caused by heterozygous mutation in the WDR26 gene (617424) on chromosome 1q42.
Description
Skraban-Deardorff syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development with variable intellectual disability, early-onset seizures, and characteristic dysmorphic facial features comprising coarse facies with a prominent maxilla and upper lip revealing the upper gingiva, widely-spaced teeth, and a broad nasal tip (summary by Skraban et al., 2017).
Clinical Features
Skraban et al. (2017) reported 15 unrelated individuals, ranging in age from 24 months to 34 years, with a syndromic form of intellectual disability apparent since infancy. All patients had global developmental delay that varied in severity from mild to severe, and all had some form of speech delay, including several with absent speech between 4 and 8 years of age. Motor delay was common, with delayed sitting, crawling, and walking, and 9 patients had mild hypotonia. Walking was acquired between 17 months and 3 years, although most had an abnormal spastic, stiff, or wide-based gait. All patients had onset of seizures in infancy or in childhood, although the seizure type varied and included febrile, nonfebrile, tonic-clonic, absence, and Rolandic seizures. Nine patients had minor variable structural brain abnormalities, including dilated ventricles, thin corpus callosum, white matter volume loss, and pineal cysts; opercular dysplasia and pachygyria was found in 1 patient. However, several patients had normal brain imaging. The patients had a distinctive gestalt with coarse facial features and common abnormalities, including prominent maxilla and upper lip (13 patients), wide mouth (10), abnormal gingiva (9), widely spaced teeth (13), full cheeks in childhood (11), large irises with rounded palpebral fissures (10), strabismus and/or amblyopia (9), broad or full nasal tip (11), and cupid bow of the lip (11). Less common features included anteverted nares (8), depressed nasal bridge (5), sparse lateral eyebrows (6), and mild micrognathia (5). Many patients had nonspecific gastrointestinal abnormalities, mainly constipation, gastric reflux, or poor feeding, and several had recurrent otitis media in the absence of an immune disorder. Rare features included cardiac defects and minor skeletal anomalies. The patients had a happy demeanor overall; some had repetitive behaviors or autistic features. Skraban et al. (2017) noted that the phenotype in these patients showed overlap with that of chromosome 1q41-q42 deletion syndrome (612530).
Molecular Genetics
In 15 unrelated patients with Skraban-Deardorff syndrome, Skraban et al. (2017) identified 15 different de novo heterozygous mutations in the WDR26 gene (see, e.g., 617424.0001-617424.0006). There were 5 frameshift, 5 nonsense, 1 splice site, and 4 missense mutations. Analysis of patient cells from 3 patients, including 2 with truncating mutations (617424.0002 and 617424.0004) and 1 with a missense mutation (D284N; 617424.0005), showed that the truncating mutations resulted in significantly decreased mRNA and protein levels and the missense mutation resulted in slightly decreased mRNA and protein levels, suggesting haploinsufficiency as the pathogenic mechanism. Further functional studies and studies of the other variants were not performed. Skraban et al. (2017) postulated that reduced expression of WDR26 may alter multiple signaling pathways and cellular mechanisms. The patients, all of whom were of European descent or from the United States, were ascertained from several different large patient cohorts and gene repository databases; all mutations were found by trio-based exome sequencing. The frequency of WDR26 mutations was about 1 in 2,000 for all exome analyses and about 1 in 1,500 for individuals with intellectual disability, suggesting that this disorder may not be uncommon. Skraban et al. (2017) suggested that WDR26 may be the likely candidate gene whose haploinsufficiency is the cause of 1q41-q42 deletion syndrome, as it lies within the deleted region in most of those patients.
INHERITANCE \- Autosomal dominant HEAD & NECK Face \- Coarse facies \- Prominent maxilla \- Full cheeks \- Micrognathia, mild Ears \- Otitis media, recurrent Eyes \- Large appearing irises \- Rounded palpebral fissures \- Sparse lateral eyebrows \- Strabismus \- Amblyopia Nose \- Anteverted nares \- Depressed nasal bridge \- Full nasal tip Mouth \- Prominent upper lip \- Cupid bow \- Abnormal gingiva Teeth \- Widely spaced teeth ABDOMEN Gastrointestinal \- Constipation \- Gastric reflux \- Poor feeding MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Global developmental delay \- Intellectual disability, variable severity \- Poor or absent speech \- Delayed walking \- Wide-based gait \- Stiff gait \- Spastic gait \- Seizures, variable types \- Brain imaging may show abnormalities \- Dilated ventricles \- Thin corpus callosum \- White matter volume loss \- Pineal cysts Behavioral Psychiatric Manifestations \- Happy demeanor \- Repetitive behaviors \- Autistic features MISCELLANEOUS \- Onset in infancy \- Variable severity \- De novo mutation MOLECULAR BASIS \- Caused by mutation in the WD repeat-containing protein 26 gene (WDR26, 617424.0001 ) ▲ 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
|
SKRABAN-DEARDORFF SYNDROME
|
c4539927
| 25,133 |
omim
|
https://www.omim.org/entry/617616
| 2019-09-22T15:45:20 |
{"omim": ["617616"], "orphanet": ["513456"], "synonyms": ["Skraban-Deardorff syndrome", "Alternative titles", "INTELLECTUAL DISABILITY WITH SEIZURES, ABNORMAL GAIT, AND DISTINCTIVE FACIAL FEATURES"], "genereviews": ["NBK540448"]}
|
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: "Bosch-Boonstra-Schaaf optic atrophy syndrome" – news · newspapers · books · scholar · JSTOR (January 2020) (Learn how and when to remove this template message)
Bosch-Boonstra-Schaaf optic atrophy syndrome
Other namesBBSOAS [1]
This condition is inherited via autosomal dominant manner
Causesmutations in the NR2F1 gene
Bosch-Boonstra-Schaaf optic atrophy syndrome is a rare autosomally inherited condition characterised by developmental delay, intellectual disability and decreased visual acuity.[2][3][4]
## Contents
* 1 Presentation
* 2 Genetics
* 3 Management
* 4 Epidemiology
* 5 History
* 6 References
* 7 External links
## Presentation[edit]
All patients described suffered from developmental delay, intellectual disability (intelligence quotient range 48-74) and decreased visual acuity. Ocular abnormalities include small discs, pale discs, disc excavation, strabismus and latent nystagmus.
Other features of this condition are somewhat variable and include
* Facial
* Protruding ears
* Helical anomalies
* Small nasal ridge
* High nasal bridge
* Upturned nose
* Epicanthal folds
* Upslanting palpebral fissures
* Skeletal
* Tapering fingers.
* Hypotonia
## Genetics[edit]
This condition is caused by mutations in the NR2F1 gene. This gene is located on the long arm of chromosome 5 (5q15).The gene encodes a protein that acts as a nuclear receptor and transcriptional regulator. This condition is inherited in an autosomal dominant fashion.[citation needed]
## Management[edit]
There is no curative treatment known at present for his condition. Management is supportive.[citation needed]
## Epidemiology[edit]
This condition is considered to be rare with less than 50 cases described in the literature up to 2019.
## History[edit]
This condition was first described in 2014.[5]
## References[edit]
1. ^ "OMIM Entry – # 615722 – Bosch-Boonstra-Schaaf Optic Atrophy Syndrome; BBSOAS". omim.org. Retrieved 19 January 2020.
2. ^ Bosch DGM, Boonstra FN, Gonzaga-Jauregui C, Xu, M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers L E, Spruijt L, and 12 others. NR2F1 mutations cause optic atrophy with intellectual disability. American Journal of Human Genetics 94: 303-309
3. ^ Chen CA, Bosch DG, Cho MT7, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C (2016)The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genetics in Medicine. 18(11):1143-1150.
4. ^ Chen CA, Wang W, Pedersen SE, Raman A, Seymour ML, Ruiz FR, Xia A, van der Heijden ME, Wang L, Yin J, Lopez J, Rech ME, Lewis RA, Wu SM, Liu Z, Pereira FA, Pautler RG, Zoghbi HY, Schaaf CP (2019) Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. Human Molecular Genetics. 2020;29(5):705-715. PMID 31600777. PMCID PMC7104670. doi 10.1093/hmg/ddz233
5. ^ Bosch DGM, Boonstra FN, Gonzaga-Jauregui C, Xu, M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers L E, Spruijt L, and 12 others. NR2F1 mutations cause optic atrophy with intellectual disability. American Journal of Human Genetics. 94: 303–309.
## External links[edit]
Classification
D
* OMIM: 615722
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Bosch-Boonstra-Schaaf optic atrophy syndrome
|
c3810363
| 25,134 |
wikipedia
|
https://en.wikipedia.org/wiki/Bosch-Boonstra-Schaaf_optic_atrophy_syndrome
| 2021-01-18T19:03:48 |
{"umls": ["C3810363"], "orphanet": ["401777"], "wikidata": ["Q55784781"]}
|
Virus that causes Pseudocowpox
Pseudocowpox virus
Virus classification
(unranked): Virus
Realm: Varidnaviria
Kingdom: Bamfordvirae
Phylum: Nucleocytoviricota
Class: Pokkesviricetes
Order: Chitovirales
Family: Poxviridae
Genus: Parapoxvirus
Species: Pseudocowpox virus
Synonyms[1]
* Milker’s nodule virus
* Paravaccinia virus
Pseudocowpox is a disease caused by the Paravaccinia virus or Pseudocowpox virus, a virus of the family Poxviridae and the genus Parapoxvirus.[2]:393 Humans can contract the virus from contact with livestock infected with Bovine papular stomatitis and the disease is common among ranchers, milkers, and veterinarians. Infection in humans will present with fever, fatigue, and lesion on the skin.
## Contents
* 1 Signs and symptoms
* 2 Mechanism
* 3 Diagnosis
* 4 Cause and prevention
* 5 Treatment and prognosis
* 6 History
* 7 Disease in animals
* 8 Research
* 9 References
## Signs and symptoms[edit]
Human skin infected with paravaccinia virus.
Paravaccinia virus presents itself with blisters, nodules, or lesions about 4 mm in diameter, typically in the area that has made contact with livestock that is infected with bovine papular stomatitis. Lesions may begin forming as late as three weeks after contact has been made with an infected animal.[3] In rare cases, lesions may be seen systemic. General signs of infection are also common, such as fever and fatigue.
Infected livestock may present with blisters or lesions on their udders or snout. Often, however, infected livestock show little to no symptoms.
## Mechanism[edit]
Paravaccinia is a member of the Parapoxvirus family. It has a cylindrical body about 140 X 310 nm in size, with convex ends covered in a criss-cross pattern of rope like structures. The virus is resistant to cold, dehydration, and temperatures up to 56 °C.[4] Upon injecting a cell with its genome, the virus begins transcription in the cytoplasm using viral RNA polymerase. As the virus progresses through the cell, the host begins to replicate the viral genome between 140 minutes and 48 hours.
## Diagnosis[edit]
Diagnosis of paravaccinia virus will often come from Polymerase chain reaction screening ordered by their physician. However, due to how common paravaccinia virus is in rural areas, individuals typically do not seek professional help in diagnosis. Instead individuals may refer to people with local knowledge of the cattle in their area such as ranchers, or veterinarians who have some familiarity with the infections in the region.[4]
## Cause and prevention[edit]
Paravaccinia virus originates from livestock infected with bovine papular stomatitis. When a human makes physical contact with the livestock's muzzle, udders, or an infected area, the area of contact will become infected.[4] Livestock may not show symptoms of bovine papular stomatitis and still be infected and contagious.[5] Paravaccinia can enter the body though all pathways including: skin contact by mechanical means, through the respiratory tract, or orally. Oral or respiratory contraction may be more likely to cause systemic symptoms such as lesions across the whole body[6]
A person who has not previously been infected with paravaccinia virus should avoid contact with infected livestock to prevent contraction of disease. There is no commercially available vaccination for cattle or humans against paravaccinia. However, following infection, immunization has been noted in humans, making re-infection difficult. Unlike other pox viruses, there is no record of contracting paravaccinia virus from another human.[4] Further, cattle only show a short immunization after initial infection, providing opportunity to continue to infect more livestock and new human hosts.
## Treatment and prognosis[edit]
Lesions of paravaccinia virus will clear up with little to no scarring after 4 to 8 weeks. An antibiotic may be prescribed by a physician to help prevent bacterial infection of the lesion area. In rare cases, surgical removal of the lesions can be done to help increase rate of healing, and help minimize risk of bacterial or fungal infection.[3] Upon healing, no long term side effects have been reported.[4]
## History[edit]
Paravaccinia virus was first characterized in by Edward Jenner in 1799 with the presence of lesions on humans, later described as Milker's nodule.[7] Jenner associated the lesions found on human who had contact with infected cattle. Since first being characterized in cows, bovine papular stomatitis has been isolated in sheep,[8] goats,[9] and red deer[10] creating new potential sources for human infection. Bolvine papular stomatitis has been reported in the United States of America,[11] Great Britain,[12] Brazil,[13] Switzerland,[14] and Japan[15]
## Disease in animals[edit]
Pseudocowpox is a worldwide disease of cattle. Symptoms include ring or horseshoe shaped scabs on the teats, which usually heal within six weeks.[16] Lesions may also develop on the muzzles and in the mouths of nursing calves. Spread is by fomites, including hands, calves' mouths, and milking machines.
Lesions may also appear on the hands of milkers, a clinical presentation known as milker's nodule. This disease in humans is nearly identical to orf.[17]
## Research[edit]
Very little research has been done on Paravaccinia virus in humans over the last 40 years. However the cattle variant has been studied due to an unusual case in Great Britain in 2009[permanent dead link] as well as isolation in new hosts. The cattle discussed showed particularly severe lesions on their body found to be linked to the virus.[12] Several case studies have been done including one by the Center for Disease Control and Prevention.
## References[edit]
1. ^ "Poxviridae". International Committee on Taxonomy of Viruses (ICTV). Retrieved 18 December 2018.
2. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
3. ^ a b "CDC Case Study".
4. ^ a b c d e "Milker's Nodules". Medscape. Retrieved 4 November 2015.
5. ^ Bowman, KF; Barbery, RT; Swango, LJ; Schnurrenberger, PR (1981). "Cutaneous form of bovine papular stomatitis in man". JAMA. 246 (24): 2813–8. doi:10.1001/jama.1981.03320240021018. PMID 6273605.
6. ^ Buller, R M (March 1991). "Poxvirus pathogenesis". Microbiol. Rev. 55 (1): 80–122. doi:10.1128/MMBR.55.1.80-122.1991. PMC 372802. PMID 1851533.
7. ^ Riedel, S (January 2005). "Edward Jenner and the history of small pox and vaccination". Proc (Bayl Univ Med Cent). 18 (1): 21–5. doi:10.1080/08998280.2005.11928028. PMC 1200696. PMID 16200144.
8. ^ KANOU, Yukiko. "Isolation and Characterization of a Parapoxvirus from Sheep with Papular Stomatitis" (PDF). Archived from the original (PDF) on 2016-03-04.
9. ^ Zhang, Keshan; Lu, Zhongxin; Shang, Youjun; Zheng, Haixue; Jin, Ye; He, Jijun; Liu, Xiangtao (2010-04-25). "Diagnosis and phylogenetic analysis of Orf virus from goasts in China:a case report". Virology Journal. 7 (1): 78. doi:10.1186/1743-422x-7-78. PMC 2877020. PMID 20416112.
10. ^ Robinson, Anthony J.; Mercer, Andrew A. (1995-04-20). "Parapoxvirus of Red Deer: Evidence for Its Inclusion as a New Member in the Genus Parapoxvirus". Virology. 208 (2): 812–815. doi:10.1006/viro.1995.1217. PMID 7747456.
11. ^ "Bovine papular stomatitis. I. Recognition in the United States".[permanent dead link]
12. ^ a b "Unusual bovine papular stomatitis virus infection in a British dairy cow".
13. ^ de Sant'Ana, FJ; Rabelo, RE; Vulcani, VA; Cargnelutti, JF; Flores, EF (2012). "Bovine papular stomatitis affecting dairy cows and milkers in midwestern Brazil". J Vet Diagn Invest. 24 (2): 442–5. doi:10.1177/1040638711434799. PMID 22362531.
14. ^ "Bovine papular stomatitis".
15. ^ MORITA, Chiharu; IZAWA, Hisao; SOEKAWA, Masao (1967-01-01). "Isolation of a Paravaccinia Virus from a Cow in Japan". Journal of Veterinary Medical Science. 29 (4): 171–175_2. doi:10.1292/jvms1939.29.171. ISSN 0021-5295. PMID 5624717.
16. ^ Fenner, Frank J.; Gibbs, E. Paul J.; Murphy, Frederick A.; Rott, Rudolph; Studdert, Michael J.; White, David O. (1993). Veterinary Virology (2nd ed.). Academic Press, Inc. ISBN 978-0-12-253056-2.
17. ^ Carter, G.R.; Wise, D.J. (2006). "Poxviridae". A Concise Review of Veterinary Virology. Retrieved 2006-06-13.
Taxon identifiers
* Wikidata: Q17476605
* Wikispecies: Pseudocowpox virus
* EoL: 540214
* IRMNG: 11460609
* NCBI: 129726
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Paravaccinia virus
|
c0851941
| 25,135 |
wikipedia
|
https://en.wikipedia.org/wiki/Paravaccinia_virus
| 2021-01-18T19:08:24 |
{"umls": ["C0851941"], "icd-9": ["051.9"], "wikidata": ["Q24975674"]}
|
Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals). This condition can occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment. Treatment includes steroids to reduce inflammation, drugs that suppress the immune system response and antibiotics to treat associated infections.
There are four main types of pemphigus:
* Pemphigus vulgaris
* Pemphigus foliaceus
* IgA pemphigus
* Paraneoplastic pemphigus
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Pemphigus
|
c0030807
| 25,136 |
gard
|
https://rarediseases.info.nih.gov/diseases/7352/pemphigus
| 2021-01-18T17:58:23 |
{"mesh": ["D010392"], "umls": ["C0030807"], "synonyms": []}
|
Tuberous breasts
A pair of tuberous breasts displaying typical characteristics such as minimal breast tissue and enlarged, puffy areola.
Complicationslow milk production[1]
Usual onsetpuberty
Durationlife
Treatmentbreast augmentation
Prognosisbenign
Frequencyunknown
Tuberous breasts (or tubular breasts) are a result of a congenital abnormality[2] of the breasts which can occur in both men and women (also see Hypoplasia), one breast or both. During puberty breast development is stymied and the breasts fail to develop normally and fully. The exact cause of this is as yet unclear; however, a study in 2011 of the cells in the breasts of both males and females with tubular breasts suggested a genetic link in a disorder of collagen deposition.[3] The condition is thought to affect one to five per cent of breast augmentation patients;[4] however, the proportion of the general population affected is unknown as surgery is not always sought.
## Contents
* 1 Background
* 2 Synonyms
* 3 Physical effects
* 4 Psychological effects
* 5 Treatment
* 6 References
## Background[edit]
The tuberous breast deformity was first described by Rees and Aston in 1976[5] following which a method of classifying the severity was developed. The surgical classifications refer to which areas of the breast are affected and is divided into three grades; mainly in the inferomedial quadrant (Grade I); in the two inferior quadrants (Grade II); or affecting the whole breast (Grade III).[6]
## Synonyms[edit]
This condition is also known as constricted breasts, tubular breasts, herniated areolar complexes,[3] conical breast, domen nipple, lower pole hypoplasia and hypoplastic breasts.[citation needed]
## Physical effects[edit]
Tuberous breasts are not simply small or underdeveloped breasts. The effect of the condition on the appearance of the breast can range from mild to severe, and typical characteristics include: enlarged, puffy areola, unusually wide spacing between the breasts, minimal breast tissue, sagging, higher than normal breast fold,[7] and narrow base at the chest wall. The condition can cause low milk supply in breastfeeding women.[8] However, other physical aspects of fertility and pregnancy are not affected by the condition.
## Psychological effects[edit]
Due to unrealistic societal expectations of breast size and shape, tubular breasts may lead to psychosexual problems with girls in very early puberty being affected psychologically due to the unusual shape of the breast.[6] Surgical papers about the techniques useful in correcting tubular breasts note that even when results are not perfect, the psychological impact of treatment is immense, with notable improvements in self-esteem to the level where the person engages in normal social activities.[citation needed]
## Treatment[edit]
The examples and perspective in this section deal primarily with the United Kingdom and do not represent a worldwide view of the subject. You may improve this section, discuss the issue on the talk page, or create a new section, as appropriate. (April 2013) (Learn how and when to remove this template message)
The appearance of tuberous breasts can potentially be changed through surgical procedures, including the tissue expansion method, use of autologous fat grafting[9] and breast implants.[10]
The procedure to change the appearance of tuberous breasts can be more complicated than a regular breast augmentation, and some plastic surgeons have specialist training in tuberous breast correction. A less complicated single-stage approach using saline implants can also provide a satisfactory aesthetic result. [11] As tuberous breasts are a congenital deformity, referral for treatment under the National Health Service may be possible in the United Kingdom.[12] A starting point for those seeking such a referral may be a visit to their local General Practitioner. For those seeking non-surgical solutions, counseling may be recommended as a way of coming to terms with body image.
## References[edit]
1. ^ "Some mothers can't breast-feed".
2. ^ Panchapakesan V, Brown MH (January 2009). "Management of tuberous breast "deformity" with anatomic cohesive silicone gel breast implants". Aesthetic Plast Surg. 33 (1): 49–53. doi:10.1007/s00266-008-9234-7. PMID 18752021. S2CID 25422938.
3. ^ a b Klinger, Marco; Caviggioli, Fabio; Klinger, Francesco; Villani, Federico; Arra, Erseida; Di Tommaso, Luca (2011). "Tuberous breast: Morphological study and overview of a borderline entity". Canadian Journal of Plastic Surgery (in English and French). 19 (2): 42–44. doi:10.1177/229255031101900210. PMC 3328117. PMID 22654530.
4. ^ "Breast Augmentation...on Tubular Breasts". Retrieved 2010-03-14.
5. ^ Rees, S; Aston, S (1976). "The tuberous breast". Clin Plast Surg. 3 (2): 339–46. doi:10.1016/S0094-1298(20)30232-7. PMID 1261187.
6. ^ a b Gabka, Christian J; Heinz Bohmert (2008). Plastic and Reconstructive Surgery of the Breast. p. 72. ISBN 9783131035721. Retrieved 7 December 2013.
7. ^ Tubular Breast Correction
8. ^ Amir, LH (2006). "Breastfeeding--managing 'supply' difficulties". Australian Family Physician. 35 (9): 686–9. ISSN 0300-8495. PMID 16969436.
9. ^ Gutierrez-Ontalvilla, Patricia; Naidu, Nina S (April 2020). "Autologous Fat Grafting with Percutaneous Fasciotomy and Reduction of the Nipple–Areolar Complex for the Correction of Tuberous Breast Deformity in Teenagers". Aesthetic Plastic Surgery. 44 (2): 264–269. doi:10.1007/s00266-019-01531-1. PMID 31673737. S2CID 204942620. Retrieved 31 October 2019.
10. ^ Dennis C. Hammond (3 December 2008). Atlas of Aesthetic Breast Surgery. Elsevier Health Sciences. pp. 187–. ISBN 978-1-4160-3184-0. Retrieved 2 May 2010.
11. ^ Eisenberg, Ted (2019). "One-Stage Correction of Tuberous Breast Deformity Using Saline Implants: Without the Need for Radial Scoring or Lowering the Inframammary Fold". American Journal of Cosmetic Surgery. 36 (4): 191–196. doi:10.1177/0748806819841466. S2CID 145932734.
12. ^ Policy for Cosmetic Surgery Referrals
* v
* t
* e
Congenital malformations and deformations of the breast
Breast
* Amastia
* Polymastia
* Micromastia
* Symmastia
Nipple
* Athelia
* Polythelia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Tuberous breasts
|
c0425788
| 25,137 |
wikipedia
|
https://en.wikipedia.org/wiki/Tuberous_breasts
| 2021-01-18T19:02:39 |
{"umls": ["C0425788"], "wikidata": ["Q7850872"]}
|
## Clinical Features
Yamamoto et al. (1988) observed aniridia, microcornea, and spontaneously reabsorbed cataract in 3 generations of a family and possibly in a fourth.
Inheritance
The pedigree described by Yamamoto et al. (1988) suggested autosomal dominant inheritance of this disorder, but there was no male-to-male transmission.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Aniridia \- Microcornea \- Spontaneously reabsorbed cataract ▲ 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
|
ANIRIDIA, MICROCORNEA, AND SPONTANEOUSLY REABSORBED CATARACT
|
c1862867
| 25,138 |
omim
|
https://www.omim.org/entry/106230
| 2019-09-22T16:45:01 |
{"mesh": ["C566280"], "omim": ["106230"]}
|
A number sign (#) is used with this entry because both classic infantile-onset and later childhood-onset Hutchinson-Gilford progeria syndrome (HGPS) are caused by de novo heterozygous mutation in the lamin A gene (LMNA; 150330) on chromosome 1q22.
Description
Hutchinson-Gilford progeria syndrome is a rare disorder characterized by short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. Cardiovascular compromise leads to early death. Cognitive development is normal. Onset is usually within the first year of life (review by Hennekam, 2006). The designation Hutchinson-Gilford progeria syndrome appears to have been first used by DeBusk (1972).
A subset of patients with heterozygous mutations in the LMNA gene and a phenotype similar to HGPS have shown onset of the disorder in late childhood or in the early teenage years, and have longer survival than observed in classic HGPS (Chen et al., 2003; Hegele, 2003).
Other disorders with a less severe, but overlapping phenotype include mandibuloacral dysplasia (MADA; 248370), an autosomal disorder caused by homozygous or compound heterozygous mutations in the LMNA gene, dilated cardiomyopathy with hypergonadotropic hypogonadism (212112), caused by heterozygous mutation in the LMNA gene, and Werner syndrome (277700), an autosomal recessive progeroid syndrome caused by homozygous or compound heterozygous mutations in the RECQL2 gene (604611).
Clinical Features
Hastings Gilford (1904) gave the name progeria to this disorder in an article in which he also assigned the term ateleiosis to a pituitary growth hormone deficiency (262400). He provided no photographs of progeria and indicated that 'only two well-marked instances have so far been recorded.' Death from angina pectoris at age 18 years was noted. Jonathan Hutchinson (1886) had previously written about the disorder (McKusick, 1952). Hutchinson's report was accompanied by a photograph of his patient at the age of 15.5 years showing the stereotypic phenotype of this disorder. Hutchinson emphasized the lack of hair but the other features were evident: disproportionately large head, 'pinched' facial features, lipodystrophy, incomplete extension at the knees and elbows indicating stiffness of joints, and generally a senile appearance.
Paterson (1922) recorded the cases of 2 possibly affected brothers whose parents were first cousins. Photographs were not published and the diagnosis is not completely certain. The full report was simply the following: 'A boy, aged 8 years. Condition has been present since birth... There are 4 children in the family; the girls are unaffected, both boys are affected. The senile condition of the skin and facies should be noted. The vessels show arteriosclerosis. (There is almost complete absence of subcutaneous fat.)'
Ogihara et al. (1986) described a Japanese patient with progeria who survived to age 45, dying of myocardial infarction. Clinically, he seemed typical except for the unusually long survival. According to reviews of the literature, the age at death ranges from 7 to 27.5 years, with a median age of 13.4 years. Dyck et al. (1987) reported coronary artery bypass surgery and percutaneous transluminal angioplasty in a 14-year-old girl with this disorder.
The 2 brothers reported as having progeria by Parkash et al. (1990) probably had mandibuloacral dysplasia (MADA; 248370). Fatunde et al. (1990) described a family in which 3 of 6 sibs had progeria. A seventh sib, who had died before the time of study, may have been affected.
Three cases of neonatal HGPS were reported in France (De Martinville et al., 1980; Labeille et al., 1987). All 3 patients died early, 2 on the first day of life and the other patient at 20 months of age. Unlike classic HGPS, however, none of the 3 presented clinical signs of coronary occlusion.
De Paula Rodrigues et al. (2002) reported details of the involvement of bones and joints in a seemingly typical example of progeria in an 8-year-old girl.
Hennekam (2006) provided an exhaustive review of the phenotype of HGPS, based on data from 10 of his own cases and 132 cases from the literature.
Merideth et al. (2008) comprehensively studied 15 children between 1 and 17 years of age, representing nearly half of the world's known patients with Hutchinson-Gilford progeria syndrome. The previously described features were documented. Previously unrecognized findings included prolonged prothrombin times, elevated platelet counts and serum phosphorus levels, low-frequency conductive hearing loss, and functional oral deficits. Growth impairment was not related to inadequate nutrition, insulin unresponsiveness, or growth hormone deficiency. Growth hormone treatment in a few patients increased height growth by 10% and weight growth by 50%. Cardiovascular studies revealed diminishing vascular function with age, including elevated blood pressure, reduced vascular compliance, decreased ankle-brachial indices, and adventitial thickening. The ankle-brachial index was used to measure the difference in blood pressure between the legs and arms in 11 children. The index was abnormal in 2 patients, indicating arterial disease in the legs.
### Childhood-Onset HGPS
Chen et al. (2003) found that 26 (20%) of 129 probands referred to their international registry for molecular diagnosis of the autosomal recessive progeroid disorder Werner syndrome (277700) did not have mutations in the RECQL2 gene (604611). Sequencing of the LMNA gene in these individuals found that 4 (15%) had heterozygous mutations: A57P (150330.0030), R133L (in 2 persons) (150330.0027), and L140R (150330.0031), all of which altered relatively conserved residues within lamin A/C. Fibroblasts from the patient with the L140R mutation had a substantially enhanced proportion of nuclei with altered morphology and mislocalized lamins. These individuals had a more severe phenotype than those with RECQL2-associated Werner syndrome. Although Chen et al. (2003) designated these patients as having 'atypical Werner syndrome,' Hegele (2003) suggested that the patients more likely had late-onset Hutchinson-Gilford progeria syndrome. Hegele (2003) reviewed the clinical features of the 4 patients with LMNA mutations reported by Chen et al. (2003), and stated that the designation of 'atypical Werner syndrome' appeared somewhat insecure. He noted that the comparatively young ages of onset in the patients with mutant LMNA would be just as consistent with late-onset HGPS as with early-onset Werner syndrome. These patients also expressed features of nonprogeroid laminopathies, including insulin resistance (FPLD2; 151660), dilated cardiomyopathy (115200), and phalangeal osteosclerosis (MADA; 248370). Hegele (2003) suggested that genomic DNA analysis can help draw a diagnostic line that clarifies potential overlap between older patients with Hutchinson-Gilford syndrome and younger patients with Werner syndrome, and that therapies may depend on precise molecular classification.
McPherson et al. (2009) noted phenotypic similarities between the patient studied by Chen et al. (2003) with the A57P LMNA mutation and 2 unrelated patients with heterozygosity for an adjacent mutation in the LMNA gene, L59R (150330.0052). Features common to these 3 patients included premature ovarian failure, dilated cardiomyopathy, lipodystrophy, and progressive facial and skeletal changes involving micrognathia and sloping shoulders, but not acroosteolysis. Although the appearance of these patients was somewhat progeroid, none had severe growth failure, alopecia, or rapidly progressive atherosclerosis, and McPherson et al. (2009) suggested that the phenotype represents a distinct laminopathy (dilated cardiomyopathy and hypergonadotropic hypogonadism, 212112).
Hisama et al. (2011) reported a nonconsanguineous family in which 2 sibs and their mother had adult-onset coronary artery disease with progeroid features. The patients had short stature and a progeroid appearance as adults, including loss of subcutaneous fat, hair loss, tooth loss, low bone density, and beaked nose. Cardiac features included hyperlipidemia and hypercholesterolemia resulting in severe atherosclerosis necessitating bypass surgery in 2 patients. Two patients also developed diabetes. None of the patients had cataracts. A 48-year-old woman from an unrelated family had a similar phenotype, with short stature, progeroid appearance, tight and atrophic skin, and hyperlipidemia with coronary artery disease. She died of surgical complications after bypass surgery.
Kane et al. (2013) reported a family in which 5 individuals had a progeroid syndrome with prominent cutaneous and cardiovascular manifestations. The proband and her sister were described in detail. Both were normal at birth, but lost eyebrows and eyelashes in childhood. In their late twenties, both showed a progeroid appearance and developed exertional dyspnea associated with mitral valve calcification and stenosis necessitating valve replacement; the proband also had aortic stenosis. The proband developed occlusion of the coronary arteries and died of acute myocardial infarction at age 44; her sister died of intracranial hemorrhage at age 34. Both women also had several primary malignancies, including basal and squamous cell carcinomas, papillary renal carcinoma, and carcinoid tumor. Family history revealed a father, paternal uncle, and paternal grandfather with premature aging and significant cardiac disease resulting in death between ages 29 and 44 years. Kane et al. (2013) proposed the name LMNA-associated cardiocutaneous progeria syndrome (LCPS) for this disorder.
Barthelemy et al. (2015) reported a patient with late-onset HGPS. He was first seen at age 30 years, when he showed a progeroid appearance with facial dysmorphism, lipoatrophy, thin skin, hair loss, and brittle nails. He had hypertriglyceridemia, osteolysis of the distal phalanges, and diffuse and severe atherosclerosis and aortic stenosis necessitating cardiac surgery. He died of surgical complications at age 35. An unrelated patient presented at age 12 years with short stature and a progeroid appearance, including atrophic skin, alopecia, amyotrophy, lipoatrophy, and distal phalangeal osteolysis. He developed aortic valve stenosis and hypertrophic cardiomyopathy resulting in death at age 17.
Biochemical Features
In cultured skin fibroblasts of patients with progeria, Goldstein and Moerman (1978) demonstrated an increased fraction of heat-labile enzymes and other altered proteins. Freshly obtained cells, namely, erythrocytes, showed similar heat-lability of G6PD and 6-phosphogluconate dehydrogenases in a girl with progeria. Both parents showed intermediate values, consistent with recessive inheritance. Normal HLA antigens were found by Brown et al. (1980).
Cao et al. (2011) reported the effect of rapamycin on the cellular phenotypes of HGPS fibroblasts. Treatment with rapamycin abolished nuclear blebbing, delayed the onset of cellular senescence, and enhanced the degradation of progerin in HGPS cells. Rapamycin also decreased the formation of insoluble progerin aggregates and induced clearance through autophagic mechanisms in normal fibroblasts. Cao et al. (2011) concluded that their findings suggested an additional mechanism for the beneficial effects of rapamycin on longevity and encouraged the hypothesis that rapamycin treatment could provide clinical benefit for children with HGPS.
Larrieu et al. (2014) identified a small molecule that they called 'remodelin' that improved nuclear architecture, chromatin organization, and fitness of both human LMNA (150330)-depleted cells and HGPS-derived patient cells, and decreased markers of DNA damage in these cells. Using a combination of chemical, cellular, and genetic approaches, Larrieu et al. (2014) identified NAT10 (609221) as the target of remodelin that mediated nuclear shape rescue in laminopathic cells via microtubule reorganization. Larrieu et al. (2014) concluded that these findings provided insights into how NAT10 affects nuclear architecture and suggested alternative strategies for treating laminopathies and aging.
Inheritance
The majority of patients with HGPS have de novo heterozygous dominant mutations in the LMNA gene. Presumably, patients with the disorder do not survive long enough to reproduce (Eriksson et al., 2003; Cao and Hegele, 2003).
DeBusk (1972) maintained that of 19 cases reported to that date in which consanguinity was sought, in only 3 were the parents related. He suggested that progeria could conceivably be dominant and the rare instances of affected sibs be the result of germinal mosaicism.
DeBusk (1972) and Jones et al. (1975) reported a paternal age effect, supporting autosomal dominant inheritance. In 20 cases in which parental age was known, the mean paternal and maternal ages were 35.6 and 28.8 years, respectively, and the median ages 31 and 28, respectively. In 7 U.S. cases, the mean paternal age was 37.1. On the basis of the paternal age effect, the low frequency of parental consanguinity, and the report of progeric monozygotic twins of 14 normal sibs, Brown (1979) favored autosomal dominant inheritance, with most cases resulting from a de novo, new, mutation.
In a patient with Hutchinson-Gilford progeria, Wuyts et al. (2005) identified a heterozygous mutation in the LMNA gene (G608G; 150330.0022). In lymphocyte DNA from the parents, normal wildtype alleles were observed in the father, but a low signal corresponding to the mutant allele was detected in the mother's DNA. A segregation study confirmed that the patient's mutation was transmitted from the mother, who showed germline and somatic mosaicism without clinical manifestations of HGPS.
### Reports Suggesting Autosomal Recessive Inheritance
Recessive inheritance was suggested by the report from Egypt of affected sisters, children of first cousins (Gabr et al., 1960). Erecinski et al. (1961) described photographically typical progeria in 2 brothers. Among the 9 offspring of 2 sisters, Rava (1967) found 6 affected.
Maciel (1988) reported an inbred Brazilian family in which presumed Hutchinson-Gilford progeria syndrome had occurred in members of 2 sibships related as first cousins once removed. Although autosomal recessive inheritance was unmistakable, the disorder was not definitively HGPS.
Khalifa (1989) described a consanguineous Libyan family in which 2 males and 1 female in 2 sibships related as cousins had seemingly typical Hutchinson-Gilford progeria. Repeated nonhealing fractures were the presenting manifestation in the proband.
Verstraeten et al. (2006) reported a 2-year-old Dutch boy with features of HGPS who was compound heterozygous for 2 mutations in the LMNA gene. After the age of 1 year, he showed failure to thrive, poor growth, and hair loss. Clinical features included prominent forehead, prominent veins, narrow nasal bridge, small mouth, lipodystrophy, and dental crowding. He also had significant shortening of the distal phalanges with osteolysis and tufting, as well as osteoresorption of the distal ends of the clavicles. Some of these features were more consistent with mandibuloacral dysplasia. Fibroblasts derived from the patient showed irregularly shaped nuclei with blebs, honeycomb figures, large and poorly defined protrusions, and intra/trans-nuclear tubule-like structures. There was no accumulation of prelamin A, as usually observed in typical HGPS. A clinically unaffected sister was heterozygous for 1 of the mutations, and each clinically unaffected parent was heterozygous for 1 of the mutations. A smaller percentage of fibroblasts derived from the parents showed the nuclear abnormalities that were present in the proband.
Cytogenetics
Brown et al. (1990) described identical twins with progeria who developed heart failure at the age of 8 and died within 1 month of each other. Cytogenetic analysis showed an inverted insertion in the long arm of chromosome 1 in 70% of cells. Brown et al. (1990) suggested that a gene for progeria may be located on chromosome 1. Evidence for possible bioinactive growth hormone was presented with a suggestion of treatment of progeria with growth hormone.
In a 9-year-old patient with a classic clinical picture of Hutchinson-Gilford progeria, Delgado Luengo et al. (2002) found an interstitial deletion of chromosome 1q23. Because a perturbation in glycosylation in connective tissue had been demonstrated in patients with this condition, they suggested that the defect may reside in the B4GALT3 gene (604014), which maps to 1q23.
Lewis (2003) suggested that the defect causing progeria might reside in the proline/arginine-rich end leucine-rich repeat protein gene (PRELP; 601914), which maps to chromosome 1q32 and is a small leucine-rich proteoglycan that binds type I collagen to basement membranes and type II collagen to cartilage.
Population Genetics
Hennekam (2006) stated that the incidence of HGPS was 1 per 8 million newborns in the US between 1915 and 1967 and 1 per 4 million newborns in the Netherlands between 1900 and 2005. Patients have been reported from all continents and all ethnic backgrounds.
Molecular Genetics
Eriksson et al. (2003) reported de novo point mutations in lamin A (150330) causing Hutchinson-Gilford progeria syndrome. The HGPS gene was initially localized to chromosome 1q by observing 2 cases of uniparental isodisomy of 1q, and 1 case with a 6-Mb paternal interstitial deletion. Eighteen of 20 classic cases of HGPS harbored the identical de novo single-base substitution, a C-to-T transition resulting in a silent gly-to-gly change at codon 608 within exon 11 (G608G; 150330.0022). One additional case was identified with a different substitution within the same codon (150330.0023). Both of these mutations were shown to result in activation of a cryptic splice site within exon 11 of the lamin A gene, resulting in production of a protein product that deletes 50 amino acids near the C terminus. This prelamin A still retains the CAAX box but lacks the site for endoproteolytic cleavage. Immunofluorescence of HGPS fibroblasts with antibodies directed against lamin A revealed that many cells showed visible abnormalities of the nuclear membrane.
Cao and Hegele (2003) studied cell lines from 7 HGPS probands. Five carried the common mutation within exon 11 of LMNA, which they termed 2036C-T (150330.0022). In 1 of 7 patients, they identified the G608S mutation (150330.0023). Cao and Hegele (2003) confirmed the findings of Eriksson et al. (2003) using the same cell lines. In 1 patient with an HGPS phenotype who was 28 years old at the time that DNA was obtained, Cao and Hegele (2003) identified compound heterozygosity for 2 missense mutations in the LMNA gene (150330.0025 and 150330.0026); this patient was later determined (Brown, 2004) to have mandibuloacral dysplasia.
De Sandre-Giovannoli et al. (2003) identified the exon 11 cryptic splice site activation mutation (1824C-T+1819-1968del; 150330.0022) in 2 HGPS patients. Immunocytochemical analyses of lymphocytes from 1 patient using specific antibodies directed against lamin A/C, lamin A, and lamin B1 showed that most cells had strikingly altered nuclear sizes and shapes, with envelope interruptions accompanied by chromatin extrusion. Lamin A was detected in 10 to 20% of HGPS lymphocytes. Only lamin C was present in most cells, and lamin B1 was found in the nucleoplasm, suggesting that it had dissociated from the nuclear envelope due to the loss of lamin A. Western blot analysis showed 25% of normal lamin A levels, and no truncated form was detected.
In 4 affected members of a consanguineous family from north India, Plasilova et al. (2004) with features of both MADA (248370) and HGPS resulting from a homozygous missense mutation in the LMNA gene (150330.0033). Plasilova et al. (2004) suggested that autosomal recessive HGPS and MADA may represent a single disorder with varying degrees of severity.
Genotype/Phenotype Correlations
Moulson et al. (2007) reported 2 unrelated patients with extremely severe forms of HGPS associated with unusual mutations in the LMNA gene. (150330.0036 and 150330.0040, respectively). Both mutations resulted in increased use of the cryptic exon 11 donor splice site observed with the common 1824C-T mutation (150330.0022). As a consequence, the ratios of mutant progerin mRNA and protein to wildtype were higher than in typical HGPS patients. The findings indicated that the level of progerin expression correlates to the severity of the disease.
In affected members of a family with adult-onset coronary disease and progeroid features, Hisama et al. (2011) identified a heterozygous splice site mutation affecting exon 11 in the LMNA gene (c.1968G-A; 150330.0055). An unrelated patient with a similar disorder carried a different splice site mutation that also affected exon 11 (c.1968+5G-A; 150330.0056). Patient cells in both cases showed the presence of progerin at lower levels than observed in typical HGPS cells. The report illustrated the evolving genotype/phenotype relationship between the amount of progerin produced and the age of onset of the spectrum of clinical features associated with LMNA-associated progeroid syndromes. In 2 unrelated patients with late-onset HGPS and cardiac disease, Barthelemy et al. (2015) identified different heterozygous exon 11 splice site mutations in the LMNA gene (150330.0055 and 150330.0056).
In affected members of a family with a protracted form of HGPS manifest as premature cutaneous and cardiac aging, Kane et al. (2013) identified a heterozygous missense mutation in the LMNA gene (D300G; 150330.0057). Skin fibroblasts derived from the proband showed abnormal morphology, including blebs, lobulation, and ringed or donut-shaped nuclei. Although the processing of lamin A and C were normal in patient cells, treatment with farnesyltransferase inhibitors resulted in improved nuclear morphology. Overexpression of the mutation in control fibroblasts led to abnormal nuclear morphology in a dominant-negative manner.
Barthelemy et al. (2015) analyzed LMNA exon 11 transcripts in cells derived from patients with atypical progeroid syndromes associated with heterozygous mutations affecting the splicing of exon 11 of the LMNA gene (150330.0055 and 150330.0056). All cells carried a normal full-length prelamin A transcript, a band corresponding to prelamin A(del50) (progerin), and an additional transcript correlating to prelamin A(del90) resulting from the skipping of all of exon 11. Barthelemy et al. (2015) termed the prelamin A(del90) transcript 'dermopathin' because it was first observed in a patient with restrictive dermopathy (275210) by Navarro et al. (2004) (see 150330.0036). Dermopathin excludes the 270 nucleotides of exon 11 and is predicted to cause an internal deletion preserving the prelamin A open reading frame (Gly567_Gln656del). The findings indicated that progerin accumulation is the major pathogenetic mechanism responsible for HGPS-like disorders due to LMNA mutations.
Bar et al. (2017) reported an 11.5-year-old girl (patient DB386) who was diagnosed with HGPS at age 10 months, at which time she exhibited typical early stage features; however, she did not develop the total alopecia pathognomonic of classic HGPS, showed less-pronounced mandibular recession, and had milder than expected joint contractures. As she aged, she also displayed better growth than expected, and at age 5.9 years, she had normal blood pressure, no insulinemia or insulin resistance, and no electrocardiographic abnormalities. Sequencing of LMNA exon 11 DNA from blood-derived WBCs and cultured skin fibroblasts revealed 2 different mutations, with blood-derived DNA showing a c.1968+2T-A variant, and all 3 fibroblast DNA isolates showing a c.1968+2T-C variant. Testing for mosaicism demonstrated approximately 50% normal LMNA sequence, with 4.7% c.1968+2T-C and 41.3% c.1968+2T-A. Bar et al. (2017) also assessed 2 additional HGPS patients, each heterozygous for 1 of the mutations: a girl (patient DB423) with the c.1968+2T-A mutation, who had a severe HGPS phenotype and died at age 3.5 years; and a boy (patient DB392) with the c.1968+2T-C mutation, who was alive at age 11.5 years with no mandibular recession, moderate alopecia, and moderate lipodystrophy. Based on these genotype/phenotype comparisons, Bar et al. (2017) proposed a novel partial phenotypic rescue mechanism, in which patient DB386 had an initial germline mutation c.1968+2T-A, followed by a rescue event during early development, in which the somatic A-C transversion at the same nucleotide provided a selective advantage.
Pathogenesis
By light and electron microscopy of fibroblasts from HGPS patients carrying the 1824C-T mutation, Goldman et al. (2004) found significant changes in nuclear shape, including lobulation of the nuclear envelope, thickening of the nuclear lamina, loss of peripheral heterochromatin, and clustering of nuclear pores. These structural defects worsened as the HGPS cells aged in culture, and their severity correlated with an apparent accumulation of mutant protein, which Goldman et al. (2004) designated LA delta-50. Goldman et al. (2004) concluded that expression of LA delta-50 has an age-dependent, cumulative, and ultimately devastating effect on nuclear architecture and function that is responsible for premature aging in HGPS patients.
Glynn and Glover (2005) studied the effects of farnesylation inhibition on nuclear phenotypes in cells expressing normal and 1824C-T mutant lamin A. Expression of a GFP-progerin fusion protein in normal fibroblasts caused a high incidence of nuclear abnormalities (as seen in HGPS fibroblasts), and resulted in abnormal nuclear localization of GFP-progerin in comparison with the localization pattern of GFP-lamin A. Expression of a GFP-lamin A fusion containing a mutation preventing the final cleavage step, which caused the protein to remain farnesylated, displayed identical localization patterns and nuclear abnormalities as in HGPS cells and in cells expressing GFP-progerin. Exposure to a farnesyltransferase inhibitor (FTI), PD169541, caused a significant improvement in the nuclear morphology of cells expressing GFP-progerin and in HGPS cells. Glynn and Glover (2005) proposed that abnormal farnesylation of progerin may play a role in the cellular phenotype in HGPS cells, and suggested that FTIs may represent a therapeutic option for patients with HGPS.
Using various mechanical measurements, including photobleaching assays, biophysical analysis under hypo- and hyperosmotic conditions, and micropipette aspiration, Dahl et al. (2006) demonstrated that the lamina in HGPS cells has a reduced ability to rearrange after mechanical stress compared to wildtype cells. In response to dynamic changes in the cell, mutant LMNA associated more tightly with the nuclear lamina than wildtype LMNA. Polarization microscopy studies showed that the lamins in HGPS nuclei were birefringent, forming orientationally ordered microdomains with reduced deformability. Dahl et al. (2006) suggested that the altered mechanical properties of HGPS cells may lead to misexpression of mechanosensitive genes.
Hennekam (2006) noted that the HGPS-like disorder, mandibuloacrodysplasia with type B lipodystrophy (MADB; 608612), and restrictive dermopathy (275210) are both caused by mutation in the ZMPSTE24 gene (606480), resulting in abnormal posttranslational processing of lamin A. The author suggested that patients with atypical progeria may have ZMPSTE24 mutation.
Wang et al. (2006) found that cultured HGPS fibroblasts showed early accelerated growth followed by rapid decline in proliferation in later passages compared to normal cells. HGPS fibroblasts had shrunken cell bodies with coarse cell membranes starting from early passages and showed loss of cell-to-cell growth inhibition with cell clustering. HPGS nuclei also showed multiple morphologic abnormalities compared to normal fibroblasts. Using microarray, RT-PCR, and Western blot analysis, Wang et al. (2006) found significantly increased (approximately 100-fold) expression of the ANK3 gene (600465) in fibroblast cell lines from a patient with HGPS compared to a normal control cell line.
Varela et al. (2008) found that combined treatment of HGPS cells with both statins and aminobisphosphonates resulted in improved nuclear morphology and decreased accumulation of prelamin A. The mechanism of treatment involved the inhibition of farnesyl pyrophosphate synthesis and prevention of cross-prenylation of prelamin A.
Liu et al. (2011) reported the generation of induced pluripotent stem cells (iPSCs) from fibroblasts obtained from patients with HGPS. HGPS iPSCs showed absence of progerin, and more importantly, lacked the nuclear envelope and epigenetic alterations normally associated with premature aging. Upon differentiation of HGPS iPSCs, progerin and its aging-associated phenotypic consequences were restored. Specifically, directed differentiation of HGPS iPSCs to vascular smooth muscle cells led to the appearance of premature senescence phenotypes associated with vascular aging. Additionally, their studies identified DNA-dependent protein kinase catalytic subunit (PRKDC; 600899) as a downstream target of progerin. The absence of nuclear PRKDC holoenzyme correlated with premature as well as physiologic aging. Because progerin also accumulates during physiologic aging, Liu et al. (2011) argued that their results provided an in vitro iPSC-based model to study the pathogenesis of human premature and physiologic vascular aging.
In normal cells, heterochromatic, gene-poor, inactive regions of chromatin tend to cluster near the nuclear periphery, while open, active, gene-dense regions cluster in the nuclear interior. McCord et al. (2013) found that HGPS skin fibroblasts lost this compartmentalization at later passages. Loss of compartmentalization was preceded by loss of H3K27 trimethylation in gene-poor regions, gain of H3K27 trimethylation in gene-rich regions, and detachment of chromatin from the lamina visible by electron microscopy.
Animal Model
In progeria, the accumulation of farnesyl-prelamin A disrupts the structural scaffolding for the cell nucleus, leading to misshapen nuclei. Farnesyltransferase inhibitors (FTIs) can reverse this cellular abnormality (e.g., Mallampalli et al., 2005). Fong et al. (2006) tested the efficacy of an FTI (ABT-100) in Zmpste24-deficient mice, a mouse model of progeria. The FTI-treated mice exhibited improved body weight, grip strength, bone integrity, and percent survival at 20 weeks of age. Fong et al. (2006) concluded that FTIs may have beneficial effects in humans with progeria.
Yang et al. (2006) generated mice with a targeted HGPS mutation (Lmna HG/+) and observed phenotypes similar to those in human HGPS patients, including retarded growth, reduced amounts of adipose tissue, micrognathia, osteoporosis, and osteolytic lesions in bone, which caused spontaneous rib fractures in the mutant mice. Treatment with an FTI increased adipose tissue mass, improved body weight curves, reduced the number of rib fractures, and improved bone mineralization and bone cortical thickness.
Varga et al. (2006) created a mouse model for progeria harboring the common human G608G LMNA mutation (150330.0022). Mutant mice showed striking arterial changes, including progressive loss of vascular smooth muscle cells in the medial layer, elastic fiber breakage, and proteoglycan and collagen deposition in a pattern very similar to that seen in children with HGPS. Arterial calcification, adventitial thickening, and severe loss of vascular smooth muscle cells was observed in older mutant mice. Older mutant mice also showed impaired blood pressure regulation.
In conditional transgenic mice with a human LMNA mutation, Sagelius et al. (2008) observed external features of the syndrome, including hair thinning and skin crusting, at postnatal week 4. After phenotype development, transgenic expression was turned off, and there was a rapid improvement of the phenotype within 4 weeks of transgenic suppression. After 13 weeks, pathologic examination showed that skin from the mutant mice was almost indistinguishable from wildtype skin, and there was also improvement in teeth. Sagelius et al. (2008) concluded that, in these tissues, expression of the progeria mutation did not cause irreversible damage and that reversal of disease phenotype is possible.
History
Ayres and Mihan (1974) suggested that a fault in vitamin E metabolism may be at the root of progeria and recommended vitamin E therapy for its antioxidant effect.
INHERITANCE \- Autosomal dominant \- Autosomal recessive GROWTH Other \- Postnatal onset growth retardation HEAD & NECK Face \- Midface hypoplasia \- Micrognathia SKELETAL \- Generalized osteoporosis with pathologic fractures SKIN, NAILS, & HAIR Skin \- Absence of subcutaneous fat Hair \- Alopecia MISCELLANEOUS \- Premature aging \- Median life expectancy, 13.4 years \- Paternal age effect \- Most patients have de novo mutations \- Recessive inheritance is rare \- Some patients have an atypical phenotype with a more protracted disease course resulting in death in middle age MOLECULAR BASIS \- Caused by mutation in the lamin A/C gene (LMNA, 150330.0022 ) ▲ 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
|
HUTCHINSON-GILFORD PROGERIA SYNDROME
|
c0033300
| 25,139 |
omim
|
https://www.omim.org/entry/176670
| 2019-09-22T16:35:42 |
{"doid": ["3911"], "mesh": ["D011371"], "omim": ["176670"], "icd-10": ["E34.8"], "orphanet": ["740"], "synonyms": ["Alternative titles", "PROGERIA"], "genereviews": ["NBK1121"]}
|
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.
## Epidemiology
The prevalence is unknown but 8p23.1 deletions are rare. To date, over 50 cases of interstitial or terminal 8p23.1 have been reported without a notable gender discrepancy.
## Clinical description
The clinical manifestations are variable and do not depend on the size of the deletion, since this is the same in the majority of patients. Most common manifestations include prenatal and postnatal growth retardation, low birth weight, mild to moderate intellectual deficit, psychomotor retardation, poor speech, seizures, behavioral problems such as hyperactivity and impulsiveness. Frequent craniofacial abnormalities include microcephaly, high and narrow forehead, broad nasal bridge, epicanthic folds, high arched palate, short neck and low set unusually shaped ears. Furthermore congenital heart defects (atrioventricular, septal defects, pulmonary stenosis), congenital diaphragmatic hernia and in boys cryptorchidism and hypospadias have been frequently reported. Some affected individuals have been reported to have normal intelligence.
## Etiology
The 8p23.1 deletion is likely to arise through non-allelic homologous recombination mediated by flanking low-copy repeats (LCRs), explaing the common size of approximately 3.4 Mb. The congenital heart defects and diaphragmatic hernia are most likely explained by haploinsufficiency for GATA4.
## Diagnostic methods
Diagnosis is based on clinical manifestations leading to chromosomal analysis. 8p23.1 deletions are often missed by standard karyotyping, and mostly detected by molecular karyotyping. Molecular techniques may be used for the genetic characterization of the deletion (FISH, MLPA, aCGH).
## Differential diagnosis
Differential diagnosis includes monosomy 22q11 (velocardiofacial syndrome; see this term). Accurate chromosomal analysis confirms the differential diagnosis.
## Antenatal diagnosis
Prenatal diagnosis is possible by amniocentesis or chorionic villus sampling and molecular cytogenetic analysis.
## Genetic counseling
Genetic counseling is recommended. Most 8p23.1 deletions occur de novo. However, parents can carry and transmit the chromosomal rearrangement to their children as well, with a risk of 50% for each child.
## Management and treatment
Management involves assessment, treatment and a regular follow-up by appropriate specialists, including a general practitioner, pediatrician and cardiologists. Early diagnosis and access to major developmental therapies aiming at obtaining the best developmental outcome have been proven beneficial.
## Prognosis
Life expectancy is considered normal provided that there is no major congenital heart anomaly or a diaphragmatic hernia.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
8p23.1 microdeletion syndrome
|
c2931638
| 25,140 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251071
| 2021-01-23T19:06:33 |
{"gard": ["3769"], "mesh": ["C537827"], "icd-10": ["Q93.5"], "synonyms": ["Del(8)(p23.1)", "Monosomy 8p23.1"]}
|
An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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-macrocephaly-macroorchidism syndrome
|
c4304406
| 25,141 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85320
| 2021-01-23T18:28:49 |
{"icd-10": ["Q87.8"], "synonyms": ["Johnson syndrome"]}
|
For a discussion of genetic heterogeneity of coronary heart disease (CHD), see 607339.
Mapping
In a genomewide linkage study in 2 study samples from the genetically isolated population of Finland, Pajukanta et al. (2000) identified 2 loci likely to contribute to premature coronary heart disease: one on chromosome 2q21.1-q22 (608316) and another on chromosome Xq23-q26. The initial study sample consisted of family material from the northeastern part of Finland, settled by a small number of founders about 300 years ago. The second study sample originated from the southwestern region of Finland, settled about 2,000 years ago. Families were ascertained through probands exhibiting premature coronary heart disease, defined as greater than 50% stenosis of at least 2 coronary arteries at a young age, as verified by coronary angiography. A region on chromosome Xq23-q26 yielded 2-point lod scores of 1.9, 3.5, and 2.9 in affected sib-pair analyses of the northeastern, southwestern, and pooled study samples. The corresponding multipoint maximum likelihood scores for these 3 study samples were 3.4, 3.1, and 2.5, respectively.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 3
|
c1845454
| 25,142 |
omim
|
https://www.omim.org/entry/300464
| 2019-09-22T16:20:17 |
{"omim": ["300464"], "synonyms": ["Alternative titles", "CHDS3"]}
|
Panayiotopoulos syndrome
Other namesBenign childhood occipital epilepsy, Panayiotopoulos type, Early-onset benign childhood occipital epilepsy
Panayiotopoulos syndrome (named after C. P. Panayiotopoulos) is a common idiopathic childhood-related seizure disorder that occurs exclusively in otherwise normal children (idiopathic epilepsy) and manifests mainly with autonomic epileptic seizures and autonomic status epilepticus.[1] An expert consensus has defined Panayiotopoulos syndrome as "a benign age-related focal seizure disorder occurring in early and mid-childhood. It is characterized by seizures, often prolonged, with predominantly autonomic symptoms, and by an EEG [electroencephalogram] that shows shifting and/or multiple foci, often with occipital predominance."[2]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Pathophysiology
* 4 Diagnosis
* 4.1 Diagnostic tests
* 4.2 Illustrative cases
* 4.3 Classification and nomenclature
* 4.4 Misdiagnosis
* 5 Management
* 6 Prognosis
* 7 Epidemiology
* 8 History
* 9 References
* 10 External links
## Signs and symptoms[edit]
Panayiotopoulos syndrome occurs exclusively in otherwise normal children and manifests mainly with infrequent autonomic epileptic seizures and autonomic status epilepticus.[3][4][5][6] Onset of seizures is from age 1 to 14 years with 76% starting between 3–6 years. Autonomic seizures consist of episodes of disturbed autonomic function with nausea, retching and vomiting as predominant symptoms. Other autonomic manifestations include pallor (or, less often, flushing or cyanosis), mydriasis (or, less often, miosis), cardiorespiratory and thermoregulatory alterations, incontinence of urine and/or feces, hypersalivation, and modifications of intestinal motility. In approximately one fifth of the seizures the child becomes unresponsive and flaccid (syncope-like epileptic seizures or ictal syncope) before or often without convulsions. Syncope-like epileptic seizures (ictal syncope) with the child becoming "completely unresponsive and flaccid like a rag doll" occur in one fifth of the seizures.[7] More-conventional seizure symptoms often appear after the onset of autonomic manifestations. The child, who was initially fully conscious, becomes confused and unresponsive. Eyes turn to one side or gaze widely open. Only half of the seizures end with brief hemiconvulsions or generalized convulsions. Autonomic symptoms may be the only features of the seizures. None of the above symptoms alone is a prerequisite for diagnosis. Recurrent seizures may not be stereotyped. The same child may have brief or prolonged seizures and autonomic manifestations may be severe or inconspicuous. The full emetic triad (nausea, retching, vomiting) culminates in vomiting in 74% of the seizures; in others only nausea or retching occur, and in a few, none of the emetic symptoms are apparent.[citation needed]
Most of the seizures are prolonged and half of them last more than 30 minutes thus constituting autonomic status epilepticus, which is the more common nonconvulsive status epilepticus in normal children.[8] Characteristically, even after the most severe seizures and autonomic status epilepticus, the child is normal after a few hours of sleep, which is both diagnostic and reassuring. However, it has been recently reported that sometime after status epilepticus in children with Panayiotopoulos syndrome a. growth of the frontal and prefrontal lobes is slightly decreased and b.the scores on the neuropsychological tests is decreased.[9]
Focal onset hemiconvulsions or generalised convulsions occur in nearly half of the seizures. These are usually shorter than the preceding autonomic manifestations but in a few cases a. they may be prolonged constituting convulsive status epilepticus or b. the preceding autonomic manifestations are brief and not apparent [10]
Seizures can occur at any time but they are more common during sleep.
## Cause[edit]
Panayiotopoulos syndrome is probably genetically determined, though conventional genetic influences may be less important than other mechanisms. Usually, there is no family history of similar seizures, although siblings with Panayiotopoulos syndrome or Panayiotopoulos syndrome and rolandic epilepsy or, less common, Panayiotopoulos syndrome and idiopathic childhood occipital epilepsy of Gastaut have been reported. There is a high prevalence of febrile seizures (about 17%).[11]
SCN1A mutations have been reported in a child and in 2 siblings with relatively early onset of seizures, prolonged time over which many seizures have occurred, and strong association of seizures with febrile precipitants even after the age of 5 years. However, no such mutations were found in another couple of siblings and many other cases with typical Panayiotopoulos syndrome.[12] These data indicate that SCN1A mutations when found contribute to a more severe clinical phenotype of Panayiotopoulos syndrome.
## Pathophysiology[edit]
In Panayiotopoulos syndrome there is a diffuse multifocal cortical hyperexcitability, which is age (maturation)-related. This diffuse epileptogenicity may be unequally distributed, predominating in one area, which is often posterior. Epileptic discharges in Panayiotopoulos syndrome, irrespective of their location at onset, activate emetic and autonomic centers prior to any other conventional neocortical seizure manifestations. An explanation for this is that children are susceptible to autonomic disorders as illustrated by the cyclic vomiting syndrome, which is a nonepileptic condition specific to childhood.[citation needed]
Panayiotopoulos syndrome and all other benign childhood focal seizures, with rolandic epilepsy as their main representative, are probably linked due to a common, genetically-determined, mild, and reversible functional derangement of the brain cortical maturational process that Panayiotopoulos proposed as "benign childhood seizure susceptibility syndrome". The various EEG and seizure manifestations often follow an age- (maturation-) related localization. Panayiotopoulos syndrome is probably the early onset phenotype of the benign childhood seizure susceptibility syndrome. During a recorded autonomic seizure, there was a small increase in blood pressure (+5/4 mm Hg, systolic/diastolic), pronounced increases in heart rate (+59 bpm) and plasma concentrations of norepinephrine (+242 pg/mL), epinephrine (+175 pg/mL), and vasopressin (+22.1 pg/mL); serum glucose was also elevated (206 mg/dL).[13] The significant increase in plasma vas#pressin may explain the emetic autonomic symptoms.[citation needed]
## Diagnosis[edit]
### Diagnostic tests[edit]
Illustrative samples of EEG from 14 children with Panayiotopoulos syndrome. Note that spikes may be localized in any and usually multiple brain regions (multifocal spikes). Occipital spikes are common (cases 28 and 37) but these are not a prerequisite for diagnosis (cases 40, 43, 44). Cloned-like repetitive multifocal spike-wave complexes, repetitive spike or sharp and slow wave complexes that appear concurrently in different brain locations of one or both hemispheres, may be abundant (case 35). Spike location may be shifting in serial EEGs (case 44). Brief generalized discharges may occur alone or with focal spikes (case 42).
The most important determinant of the neurodiagnostic procedures is the state of the child at the time of first medical attendance:
(1) The child has a brief or lengthy seizure of Panayiotopoulos syndrome but fully recovers prior to arriving in the accident and emergency department or being seen by a physician. A child with the distinctive clinical features of Panayiotopoulos syndrome, particularly ictus emeticus and lengthy seizures, may not need any investigations other than EEG. However, because approximately 10% to 20% of children with similar seizures may have brain pathology, an MRI may be needed.
(2) The child with a typical lengthy seizure of Panayiotopoulos syndrome partially recovers while still in a postictal stage, tired, mildly confused, and drowsy on arrival to the accident and emergency department or when seen by a physician. The child should be kept under medical supervision until fully recovered, which usually occurs after a few hours of sleep. Then guidelines are the same as in (1) above.
(3) The child is brought to the accident and emergency department or is seen by a physician while ictal symptoms continue. This is the most difficult and challenging situation. There may be dramatic symptoms accumulating in succession, which demand rigorous and experienced evaluation. The seizure may be very dramatic, with symptoms accumulating in succession, convulsions may occur and a child who becomes unresponsive and flaccid demands rigorous and experienced evaluation. The most prominent acute disorders in the differential diagnosis include encephalitis or an encephalopathic state from causes such as infections, metabolic derangement (either inborn error or others such as hypoglycaemia), raised intracranial pressure and so forth. A history of a previous similar seizure is reassuring and may prevent further procedures.
Electroencephalography (EEG). EEG is the only investigation with abnormal results, usually showing multiple spikes in various brain locations (Figure).[14][15][16][17] There is marked variability of interictal EEG findings from normal to multifocal spikes that also change significantly in serial EEGs. Occipital spikes are common but not necessary for diagnosis. Frontal or centrotemporal spikes may be the only abnormality. Generalised discharges may happen alone or together with focal spikes. A few children have consistently normal EEG, including sleep EEG. EEG abnormalities may persist for many years after clinical remission. Conversely, spikes may appear only once in successive EEGs. Series of EEGs of the same child may present with all of the above variations from normal to very abnormal. EEG abnormalities do not appear to determine clinical manifestations, duration, severity, and frequency of seizures or prognosis.
There are now significant reports of ictal EEGs in 20 cases, which objectively document the seizures of Panayiotopoulos syndrome and their variable localisation at onset.[18] All these recorded seizures occurred while the children were asleep. The onset of the electrical ictal discharge was mainly occipital (7 cases) or frontal (7 cases) and consisted of rhythmic monomorphic decelerating theta or delta activity with small spikes. The first clinical manifestation which appeared long (1–10 minutes) after the electrical onset, usually consisted of opening of the eyes as if the children were waking from sleep. At this stage, usually the children responded, often correctly, to simple questions. On many occasions, tachycardia was the first objective sign when ||ECG|| was recorded. Vomiting was a common ictal symptom occurring at any stage of the seizures but not as the first clinical manifestation. Seizures associated with ictal vomiting did not have any particular localization or lateralization. Vomiting occurred mainly when the ictal discharges were more diffuse than localized. Sometimes only retching without vomiting occurred, and on a few occasions, vomiting did not occur. Other autonomic manifestations included mydriasis, pallor, cyanosis, tachypnea, hypersalivation, and perspiration at various stages of the ictus. Of non-autonomic manifestations, deviation of eyes to the right or left occurred before or after vomiting without any apparent EEG localisation; it was present in seizures starting from the occipital or frontal regions.
Magnetoencephalography (MEG). The multifocal nature of epileptogenicity in Panayiotopoulos syndrome has been also documented with MEG, which revealed that the main epileptogenic areas are along the parietal-occipital, the calcarine, or the central (rolandic) sulci. Patients with frontal spikes were significantly older than patients with spikes on rolandic, parieto-occipital, or calcarine sulci. Follow-up MEG demonstrated shifting localization or disappearance of MEG spikes.[19][20]
### Illustrative cases[edit]
In a typical presentation of Panayiotopoulos syndrome, the child looks pale, vomits, and is fully conscious, able to speak, and understand but complains of “feeling sick.” Two thirds of the seizures start in sleep; the child may wake up with similar complaints while still conscious or else may be found vomiting, conscious, confused, or unresponsive.
Case 1. A girl had 2 seizures in sleep at 6 years of age. In the first fit she was found vomiting vigorously, eyes turned to one side, pale, and unresponsive. Her condition remained unchanged for 3 hours before she developed generalized tonic-clonic convulsions. She gradually improved, and by the next morning was normal. The second seizure occurred 4 months later. She awoke and told her mother that she wanted to vomit, and then vomited. Within minutes her eyes turned to the right. Her mother, who was on her left, asked, "Where am I?" "There, there," the child replied, indicating to the right. Ten minutes later she closed her eyes and became unresponsive. Generalized convulsions occurred 1 hour from onset. Thereafter she recovered quickly. Her EEGs showed occipital paroxysms, but this normalized by the age of 10 years. The patient had in childhood infrequent vasovagal syncopes and/or syncope-like epileptic seizures. At last communication with her, she was 29 years of age and following a successful professional career.
Case 2. This case illustrates autonomic status epilepticus with behavioral disturbances that would be difficult to attribute to seizure activity before the motor focal ictal events. A 6-year-old normal boy had a seizure at 4 years of age while traveling on a train with his parents who vividly described the event: “He was happily playing and asking questions when he started complaining that he was feeling sick, became very pale, and quiet. He did not want to drink or eat. Gradually, he was getting more and more pale, kept complaining that he felt sick, and became restless and frightened. Ten minutes from the onset, his head and eyes slowly turned to the left. The eyes were opened but fixed to the left upper corner. We called his name but he was unresponsive. He had completely gone. We tried to move his head but this was fixed to the left. There were no convulsions. This lasted for another 15 minutes, when his head and eyes returned to normal and he looked better, although he was droopy and really not there. At this stage he vomited once. In the ambulance, approximately 35 minutes from the onset, he was still not aware of what was going on, although he was able to answer simple questions with yes or no. In the hospital he slept for three quarters of an hour and gradually came around, but it took him another half to an hour before he became normal again”. EEG showed occipital paroxysms and MRI was normal. A similar prolonged episode, preceded by behavioral changes, occurred 8 months later at school. He received no medication. Since then he has been well.
Case 3. This case illustrates autonomic status epilepticus with frequent vomiting witnessed from onset. An 8-year-old boy of mixed race had 2 prolonged seizures at the age of 5 years. The first seizure occurred during a brief nap. He woke up and walked with “shaking feet” to his mother, complaining that he felt sick. Within 2 to 3 minutes, his eyes and subsequently his head turned to the extreme right. His mother recalls: “I asked him to look at me, and he would not. If I moved his head to the front, it would go back to the right. Within a minute he vomited, and his eyes started blinking, and there were also tiny jerks of his body, legs, and arms that lasted for a minute. He became unresponsive to anything I said to him. He then was rigid, and he went to a deep sleep like in a coma. In the hospital he continued to be in this unconscious state, ever so often just getting up to be sick, and straight back down again. He did not start to regain consciousness or be aware of people around until about 3 hours later. He was well the next morning and discharged home.” The second seizure occurred 6 months later on a ferryboat trip: “He told me that he felt sick, and on his way to the toilet his eyes and head turned to the right and he was talking out of context, and then he was sick. I thought he was having another fit. He was still able to converse with me in and out of sleep. He did not become unconscious, but he was continuously sick for several hours. By the time we arrived in a hospital 3 hours later, he was improving; he just seemed tired. The doctors told us that this was due to dehydration, for which treatment was provided. He was normal the next morning”. Awake EEG 1 month after the first seizure showed only 1 left-sided occipital and a possible frontal midline spike. A second EEG at 8 years of age showed infrequent central, frontal, and midline spikes during sleep.
Case 4. This case illustrates pure autonomic status epilepticus with EEG midline spikes and subsequent rolandic seizures with centrotemporal spikes. A 9-year-old boy returned from school one day looking tired and pale. Five minutes later, he complained of headache and became agitated and paler. Within 5 minutes, he started banging his head on the wall and soon became unresponsive and floppy “like a rag doll,” as well as incontinent of urine and feces with his eyes widely open and pupils markedly dilated. At this stage, he vomited vigorously. This condition continued on his way to the hospital where he arrived by ambulance half an hour from onset. Three hours later, he was still confused, partly unresponsive, pale, and quiet, and he vomited again. Recovery started 4 hours from onset. He did not convulse at any stage. He was apyrexial, and other autonomic functions were normal. He slept and was entirely normal the next morning, discharged home with the diagnosis “epileptic seizure? probably atypical migraine.” EEG had midline spikes at central midline electrode. On follow-up exam 1 year later, he had 2 typical rolandic seizures, and EEG showed centrotemporal spikes. At last follow-up at 11 years of age, he was well with no further seizures.
Case 5. This case involved seizures manifesting mainly with syncope-like epileptic seizures without emesis. A 7-year-old boy had from 5 years of age approximately 12 episodes of collapse at school. All episodes were stereotyped but of variable duration from 2 to 35 minutes. While standing or sitting, he slumped forwards and fell on his desk or the floor and became unresponsive as if in “deep sleep.” There were no convulsions or other discernible ictal or postictal symptoms. Four EEGs consistently showed frequent multifocal spikes predominating in the frontal regions.
Case 6. This case also illustrates the features of syncope-like epileptic seizures together with other variable autonomic symptoms (emesis, respiratory abnormalities, pallor, mydriasis) in Panayiotopoulos syndrome. A 5-year-old boy at age 13 months woke up vomiting profusely and then, while he was still in bed, became unresponsive and floppy with shallow breathing for 20 minutes. Later the same night, he woke up, vomited, and then collapsed in the bath. He remained flaccid and unresponsive for 1 hour, and his mother, described him as “flat” and pale with dilated nonreactive pupils. At age 20 months, he collapsed on the floor pale, unresponsive, and flaccid for approximately 10 minutes. On another occasion, he was found in bed unresponsive, floppy, and pale for 5 minutes. The last seizure occurred at age 28 months in the nursery. He fell on the floor and remained unresponsive and flaccid for 20 minutes and then he rapidly recovered. EEGs consistently showed multifocal spikes in various brain locations. Cardiologic assessment was normal.[21]
Case 7. This case demonstrates that Panayiotopoulos syndrome can also occur with consistently normal interictal EEGs.[22] At the age of 2 years, a girl had an autonomic status epilepticus during sleep. This was characterized by pallor, progressive impairment of consciousness, and vomiting that lasted 45 minutes. A second episode occurred after 11 months, during sleep, and consisted of impairment of consciousness, hypotonia, deviation of the eyes to the right, hypersalivation, and right-sided clonic convulsions. It was terminated after 45 minutes with rectal diazepam. Treatment with carbamazepine was initiated. After 6 months, she had a third episode similar to the previous ones, but shorter. At the age of 4 years 9 months, during an ambulatory EEG, she had another autonomic seizure with marked ictal EEG abnormalities, but again, the interictal did not show any spikes. Carbamazepine was replaced with phenobarbital. All 12 interictal EEGs during the active seizure period, 6 of them during sleep, were normal. At last follow-up at the age of 16 years, she was well, a good student, unmedicated, and seizure-free for 11 years.
Case 8. This case illustrates that children with Panayiotopoulos syndrome may be misdiagnosed and treated for encephalitis. This boy had a first seizure at age 4 years and 2 months. Whilst sleeping in his mother's lap, he suddenly vomited. Then his eyes stared into the space upwards, his head deviated to the right, his face turned green and he became incontinent of urine and faeces. The seizure lasted for 15 min and there were no convulsions. Abdominal ultrasound performed because of the vomiting was normal. A second seizure occurred 16 months later at age 5 years and 6 months. At around 10 in the morning he walked into lounge looking pale and irritable. He fell to the floor and developed writhing movements, shaking arms and legs, hypersalivation and incontinence of urine. Convulsions stopped 15 min later with rectal diazepam. He recovered but remained very sleepy. He was febrile ~38.5 °C. He was treated in a major teaching hospital with triple therapy for suspected encephalitis but in the third day after admission this was stopped and he was discharged home. Brain CT scan, EEG and CSF were normal. Subsequent EEGs showed infrequent occipital and frontal spikes. At follow-up aged 7, he was normal and had experienced no further seizures.[23]
### Classification and nomenclature[edit]
Panayiotopoulos syndrome is now the formally approved nomenclature for this syndrome in the new International League against Epilepsy report on classification,[24] which abandoned a number of previously used descriptive terms such as early onset benign childhood epilepsy with occipital paroxysms, early onset benign childhood occipital epilepsy, nocturnal childhood occipital epilepsy. The reason for this is that these descriptive terms were criticized as incorrect because in Panayiotopoulos syndrome: (1) Onset of seizures is mainly with autonomic symptoms, which are not occipital lobe manifestations. (2) Of occipital symptoms, only deviation of the eyes may originate from the occipital regions, but this rarely occurs at onset. Visual symptoms are exceptional and not consistent in recurrent seizures. (3) Interictal occipital spikes may never occur. (4) Magnetoencephalography may show equivalent current dipoles clustering in the frontal areas. (5) Ictal EEG has documented variable onset from the posterior or anterior regions
“An autonomic seizure is an epileptic seizure characterized by altered autonomic function of any type at seizure onset or in which manifestations consistent with altered autonomic function are prominent (quantitatively dominant or clinically important) even if not present at seizure onset. The altered autonomic function may be objective or subjective or both.”[25]
“Autonomic status epilepticus is an autonomic seizure which lasts for more than 30 minutes, or a series of such seizures over a 30 minute period without full recovery between seizures.”[26]
### Misdiagnosis[edit]
The distinctive clinical features particularly lengthy seizures and ictus emeticus means that the diagnosis of Panayiotopoulos syndrome is easy. However, these are frequently mistaken as nonepileptic conditions such as acute encephalitis, syncope, migraine, cyclic vomiting syndrome, motion sickness, sleep disorder, or gastroenteritis.[27] The consequence is avoidable misdiagnosis, high morbidity, and costly mismanagement. Autonomic seizures and autonomic status epilepticus as occur in Panayiotopoulos syndrome have not been described in other epileptic syndromes in that sequence though 10–20 per cent of children with the same seizure semiology may have cerebral pathology. The major problem is to recognize emetic and other autonomic manifestations as seizure events and not to dismiss them or erroneously to consider them as unrelated to the ictus and a feature of encephalitis, migraine, syncope or gastro-enteritis.
## Management[edit]
Continuous prophylactic antiepileptic drug (AED) treatment may not be needed particularly for children with only 1-2 or brief seizures. This is probably best reserved for children whose seizures are unusually frequent, prolonged, distressing, or otherwise significantly interfering with the child's life. There is no evidence of superiority of monotherapy with any particular common AED.[28][29]
Autonomic status epilepticus in the acute stage needs thorough evaluation for proper diagnosis and assessment of the neurologic/autonomic state of the child. "Rescue" benzodiazepines are commonly used to terminate it. Aggressive treatment should be avoided because of the risk of iatrogenic complications, including cardiovascular arrest. There is some concern that intravenous lorazepam and/or diazepam may precipitate cardiovascular arrest.[30] Early parental treatment is more effective than late emergency treatment. Buccal midazolam is probably the first choice medication for out of hospital termination of autonomic status epilepticus which should be administered as soon as the child shows evidence of onset of its habitual autonomic seizures.
Parental education about Panayiotopoulos syndrome is the cornerstone of correct management. The traumatizing, sometimes long-lasting effect on parents is significant particularly because autonomic seizures may last for many hours compounded by physicians’ uncertainty regarding diagnosis, management, and prognosis.[31]
## Prognosis[edit]
Panayiotopoulos syndrome is remarkably benign in terms of its evolution.[32][33][34][35][36] The risk of developing epilepsy in adult life is probably no more than of the general population. Most patients have one or 2-5 seizures. Only a third of patients may have more than 5 seizures, and these may be frequent, but outcome is again favorable. However, one fifth of patients may develop other types of infrequent, usually rolandic seizures during childhood and early teens. These are also age-related and remit before the age of 16 years. Atypical evolutions with absences and drop attacks are exceptional. Children with pre-existing neurobehavioral disorders tend to be pharmacoresistant and have frequent seizures though these also remit with age. Formal neuropsychological assessment of children with Panayiotopoulos syndrome showed that these children have normal IQ and they are not on any significant risk of developing cognitive and behavioural aberrations, which when they occur they are usually mild and reversible.[37] Prognosis of cognitive function is good even for patients with atypical evolutions.[38] However, though Panayiotopoulos syndrome is benign in terms of its evolution, autonomic seizures are potentially life-threatening in the rare context of cardiorespiratory arrest.[39]
## Epidemiology[edit]
Panayiotopoulos syndrome probably affects 13% of children aged 3 to 6 years who have had 1 or more afebrile seizures and 6% of such children in the 1- to 15-year age group.[40][41] All races and both sexes are affected.
## History[edit]
Chrysostomos (Tomis) P. Panayiotopoulos described this syndrome and autonomic status epilepticus particular to childhood through a 30-year prospective study that started in Greece in 1975.[42] Initial publications included patients with EEG occipital paroxysms or occipital spikes that attracted the main attention, but later it became apparent that the same clinical manifestations, and mainly ictal vomiting, could occur in children with EEG extraoccipital spikes or normal EEG.
In Panayiotopoulos’ original study, ictal vomiting occurred in only 24 children out of 900 patients of all ages with epileptic seizures.[43] Twenty-one were otherwise normal children (idiopathic cases constituting what is now considered Panayiotopoulos syndrome), and 3 had symptomatic epilepsies. Half of the seizures were lengthy, lasting for hours (autonomic status epilepticus). The EEG of the 21 idiopathic cases showed great variations: 12 had occipital paroxysms or spikes alone or with extraoccipital spikes; 2 had central spikes and giantsomatosensory evoked spikes; 2 had midline spikes; 1 had frontal spikes; 1 had brief generalized discharges; and 3 had consistently normal EEG. Subsequent attention was focused on the predominant group with occipital spikes, which was established as "early onset benign childhood epilepsy with occipital paroxysms". The other group of 9 children with extraoccipital spikes or normal EEGs was reevaluated much later; their clinical manifestations and outcome were similar to those patients with occipital spikes. Based on these results, it has been concluded that these 21 children, despite different EEG manifestations, suffered from the same disease, which is now designated as Panayiotopoulos syndrome to incorporate all cases irrespective of EEG localizations.
However, there was initial scepticism and resistance to these findings, including from influential epileptologists because as explained by Ferrie and Livingston:[44]"(a) ictal vomiting had been considered as extremely rare and hitherto had been mainly described in neurosurgical series of adult patients. In children it was generally not considered as having an epileptic origin; (b) autonomic status epilepticus was not recognised as a diagnostic entity; the proposition that it might be a common occurrence in a benign seizure disorder challenged orthodox concepts of status epilepticus; (c) it implied that paediatricians had been failing to diagnose significant numbers of children with epilepsy, instead erroneously labeling then as having diverse non-epileptic disorders such as encephalitis, syncope, migraine, cyclic vomiting syndrome and gastroenteritis; (d) the characteristic EEG findings suggested alternative diagnoses. Occipital spikes suggested "childhood epilepsy with occipital paroxysms" of Gastaut; multifocal spikes suggested symptomatic epilepsies with poor prognosis.
The veracity of Panayiotopoulos's initial descriptions has, over the last two decades, been confirmed in large and long-term studies from Europe, Japan and South America. The published database on which our knowledge of PS is now based includes over 800 cases of all races; there are few epilepsy syndromes which are better characterised."What emerges are a remarkably uniform clinical picture and a diagnosis which is strikingly useful in helping predict prognosis and dictate management."[45]
Autonomic status epilepticus is the more common type of nonfebrile status epilepticus in otherwise normal children and has been assessed in a consensus statement.[46]
## References[edit]
1. ^ Panayiotopoulos CP. Panayiotopoulos syndrome: a common and benign childhood epileptic syndrome. London: John Libbey & Company; 2002.
2. ^ Ferrie C, Caraballo R, Covanis A, Demirbilek V, Dervent A, Kivity S et al. Panayiotopoulos syndrome: a consensus view. Dev Med Child Neurol 2006; 48(3):236-240.
3. ^ Panayiotopoulos CP. Panayiotopoulos syndrome: a common and benign childhood epileptic syndrome. London: John Libbey & Company; 2002.
4. ^ Koutroumanidis M. Panayiotopoulos Syndrome: An Important Electroclinical Example of Benign Childhood System Epilepsy. Epilepsia 2007; 48(6):1044-1053
5. ^ Caraballo R, Cersosimo R, Fejerman N. Panayiotopoulos syndrome: a prospective study of 192 patients. Epilepsia 2007; 48(6):1054-1061.
6. ^ Panayiotopoulos CP, Michael M, Sanders S, Valeta T, Koutroumanidis M. Benign childhood focal epilepsies: assessment of established and newly recognized syndromes. Brain 2008; 131(Pt 9):2264-2286.
7. ^ Koutroumanidis M, Ferrie CD, Valeta T, Sanders S, Michael M, Panayiotopoulos CP. Syncope-like epileptic seizures in Panayiotopoulos syndrome. Neurology 2012 July 31;79(5):463-7.
8. ^ Ferrie CD, Caraballo R, Covanis A, Demirbilek V, Dervent A, Fejerman N et al. Autonomic status epilepticus in Panayiotopoulos syndrome and other childhood and adult epilepsies: a consensus view. Epilepsia 2007; 48(6):1165-1172.
9. ^ Kanemura H, Sano F, Ohyama T, Aoyagi K, Sugita K, Aihara M. Sequential prefrontal lobe volume changes and cognitive dysfunctions in children with Panayiotopoulos syndrome presenting with status epilepticus. Epilepsy Res 2015; 112: 122-129..
10. ^ Verrotti A, Sebastiani M, Giordano L et al. Panayiotopoulos syndrome with convulsive status epilepticus at the onset: a long-term study. Seizure 2014; 23: 728-731.
11. ^ Cordelli DM, Aldrovandi A, Gentile V, Garone C, Conti S, Aceti A et al. Fever as a seizure precipitant factor in Panayiotopoulos syndrome: a clinical and genetic study. Seizure 2012 March;21(2):141-3.
12. ^ Cordelli DM, Aldrovandi A, Gentile V, Garone C, Conti S, Aceti A et al. Fever as a seizure precipitant factor in Panayiotopoulos syndrome: a clinical and genetic study. Seizure 2012 March;21(2):141-3.
13. ^ Gonzalez-Duarte A, et al, Cardiovascular and neuroendocrine features of Panayiotopoulos syndrome in three siblings, Epilepsy Behav (2011), doi:10.1016/j.yebeh.2011.03.006
14. ^ Panayiotopoulos CP. Panayiotopoulos syndrome: a common and benign childhood epileptic syndrome. London: John Libbey & Company; 2002.
15. ^ Caraballo R, Cersosimo R, Fejerman N. Panayiotopoulos syndrome: a prospective study of 192 patients. Epilepsia 2007; 48(6):1054-1061.
16. ^ Panayiotopoulos CP, Michael M, Sanders S, Valeta T, Koutroumanidis M. Benign childhood focal epilepsies: assessment of established and newly recognized syndromes. Brain 2008; 131(Pt 9):2264-2286.
17. ^ Ohtsu M, Oguni H, Imai K, Funatsuka M, Osawa M. Early-onset form of benign childhood epilepsy with centro-temporal EEG foci - a different nosological perspective from panayiotopoulos syndrome. Neuropediatrics 2008; 39(1):14-19.
18. ^ Specchio N, Trivisano M, Claps D, Battaglia D, Fusco L, Vigevano F. Documentation of autonomic seizures and autonomic status epilepticus with ictal EEG in Panayiotopoulos syndrome. Epilepsy Behav 2010; 19(3):383-393.
19. ^ Saitoh N, Kanazawa O, Toyama J, Akasaka N, Kamimura T. Magnetoencephalographic findings of Panayiotopoulos syndrome with frontal epileptic discharges. Pediatr Neurol 2007;36:190-4.
20. ^ Saitoh N, Kanazawa O, Tohyama J, et al. Brain maturation-related spike localization in Panayiotopoulos syndrome: magnetoencephalographic study. Pediatr Neurol 2008;38(2):104-10.
21. ^ Koutroumanidis M, Ferrie CD, Valeta T, Sanders S, Michael M, Panayiotopoulos CP. Syncope-like epileptic seizures in Panayiotopoulos syndrome. Neurology 2012 July 31;79(5):463-7.
22. ^ Specchio N, Trivisano M, Claps D, Battaglia D, Fusco L, Vigevano F. Documentation of autonomic seizures and autonomic status epilepticus with ictal EEG in Panayiotopoulos syndrome. Epilepsy Behav 2010; 19(3):383-393.
23. ^ Panayiotopoulos CP. Panayiotopoulos syndrome: a common and benign childhood epileptic syndrome. London: John Libbey & Company; 2002.
24. ^ Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross HJ, Van Emde Boas W et al. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010; 51:676-685.
25. ^ Ferrie CD, Caraballo R, Covanis A, Demirbilek V, Dervent A, Fejerman N et al. Autonomic status epilepticus in Panayiotopoulos syndrome and other childhood and adult epilepsies: a consensus view. Epilepsia 2007; 48(6):1165-1172.
26. ^ Ferrie CD, Caraballo R, Covanis A, Demirbilek V, Dervent A, Fejerman N et al. Autonomic status epilepticus in Panayiotopoulos syndrome and other childhood and adult epilepsies: a consensus view. Epilepsia 2007; 48(6):1165-1172.
27. ^ Covanis A. Panayiotopoulos Syndrome: A Benign Childhood Autonomic Epilepsy Frequently Imitating Encephalitis, Syncope, Migraine, Sleep Disorder, or Gastroenteritis. Pediatrics 2006; 118(4):e1237-e1243 doi:10.1542/peds.2006-0623.
28. ^ Ferrie C, Caraballo R, Covanis A, Demirbilek V, Dervent A, Kivity S et al. Panayiotopoulos syndrome: a consensus view. Dev Med Child Neurol 2006; 48(3):236-240.
29. ^ Panayiotopoulos CP, Michael M, Sanders S, Valeta T, Koutroumanidis M. Benign childhood focal epilepsies: assessment of established and newly recognized syndromes. Brain 2008; 131(Pt 9):2264-2286.
30. ^ Lacroix L, Fluss J, Gervaix A, Korff CM. Benzodiazepines in the acute management of seizures with autonomic manifestations: anticipate complications! Epilepsia 2011 October;52(10):e156-e159.
31. ^ Valeta T. Parental attitude, reaction and education in benign childhood focal seizures. In: Panayiotopoulos CP, editor. The Epilepsies: Seizures, Syndromes and Management. Oxford: Bladon Medical Publishing; 2005. 258-261.
32. ^ Panayiotopoulos CP. Panayiotopoulos syndrome: a common and benign childhood epileptic syndrome. London: John Libbey & Company; 2002.
33. ^ Koutroumanidis M. Panayiotopoulos Syndrome: An Important Electroclinical Example of Benign Childhood System Epilepsy. Epilepsia 2007; 48(6):1044-1053
34. ^ Caraballo R, Cersosimo R, Fejerman N. Panayiotopoulos syndrome: a prospective study of 192 patients. Epilepsia 2007; 48(6):1054-1061.
35. ^ Panayiotopoulos CP, Michael M, Sanders S, Valeta T, Koutroumanidis M. Benign childhood focal epilepsies: assessment of established and newly recognized syndromes. Brain 2008; 131(Pt 9):2264-2286.
36. ^ Specchio N, Trivisano M, Balestri M, Cappelletti S, Di Ciommo V, Gentile S et al. Panayiotopoulos syndrome: A Clinical, EEG and Neuropsychological Study of 93 Consecutive Patients. Epilepsia 2010; 51(10):2098-2107.
37. ^ Specchio N, Trivisano M, Balestri M, Cappelletti S, Di Ciommo V, Gentile S et al. Panayiotopoulos syndrome: A Clinical, EEG and Neuropsychological Study of 93 Consecutive Patients. Epilepsia 2010; 51(10):2098-2107.
38. ^ Caraballo R, Cersosimo R, Fejerman N. Panayiotopoulos syndrome: a prospective study of 192 patients. Epilepsia 2007; 48(6):1054-1061.
39. ^ Ferrie CD, Caraballo R, Covanis A, Demirbilek V, Dervent A, Fejerman N et al. Autonomic status epilepticus in Panayiotopoulos syndrome and other childhood and adult epilepsies: a consensus view. Epilepsia 2007; 48(6):1165-1172.
40. ^ Panayiotopoulos CP. Panayiotopoulos syndrome: a common and benign childhood epileptic syndrome. London: John Libbey & Company; 2002.
41. ^ Panayiotopoulos CP, Michael M, Sanders S, Valeta T, Koutroumanidis M. Benign childhood focal epilepsies: assessment of established and newly recognized syndromes. Brain 2008; 131(Pt 9):2264-2286.
42. ^ Panayiotopoulos CP. The Birth and Evolution of the Concept of Panayiotopoulos Syndrome. Epilepsia 2007; 48(6):1041-1043
43. ^ Panayiotopoulos CP. Vomiting as an ictal manifestation of epileptic seizures and syndromes. J Neurol Neurosurg Psychiatr 1988; 51(11):1448-1451.
44. ^ Ferrie CD, Livingston JH. Panayiotopoulos syndrome: learning lessons from atypical cases. Epileptic Disord 2010; 12(1):92-94
45. ^ Ferrie CD, Livingston JH. Panayiotopoulos syndrome: learning lessons from atypical cases. Epileptic Disord 2010; 12(1):92-94
46. ^ Ferrie CD, Caraballo R, Covanis A, Demirbilek V, Dervent A, Fejerman N et al. Autonomic status epilepticus in Panayiotopoulos syndrome and other childhood and adult epilepsies: a consensus view. Epilepsia 2007; 48(6):1165-1172.
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*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
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|
Panayiotopoulos syndrome
|
c0393676
| 25,143 |
wikipedia
|
https://en.wikipedia.org/wiki/Panayiotopoulos_syndrome
| 2021-01-18T18:55:06 |
{"mesh": ["D004828"], "orphanet": ["98815"], "synonyms": ["Early-onset benign childhood occipital epilepsy", "Panayiotopoulos syndrome"], "wikidata": ["Q7130160"]}
|
A number sign (#) is used with this entry because of evidence that autosomal dominant mental retardation-39 (MRD39) is caused by heterozygous mutation in the MYT1L gene (613084) on chromosome 2p25.3. Some patients with a similar phenotype have deletions or duplications of chromosome 2p25.3 encompassing several genes, including MYT1L.
Clinical Features
De Rocker et al. (2015) described 2 unrelated patients with MRD39. Patient 14, originally reported by de Ligt et al. (2012), was a girl who presented with neonatal hypotonia and feeding difficulties soon after birth, and was noted to have developmental delay around 6 months of age. At age 12 years, she had an IQ of about 45 and showed autistic features. Mild dysmorphic features included broad base and bridge of the nose and a large mouth. Patient 15 was a 13-year-old boy with delayed development, especially affecting language, and autism spectrum disorder. At age 9 years, his IQ was about 50. He had brachycephaly and upwardly slanted narrow eyes.
Blanchet et al. (2017) reported 9 patients with MRD39. All had developmental delay or impaired intellectual development and gross motor delay. Most (85%) were overweight/obese and 70% had hyperphagia. CNS malformation and minor anomalies were each seen in 42% of patients. Autism and epilepsy were seen in 30% and 15% of patients, respectively. The proportions with impaired intellectual development, gross motor delay, speech delay, autism, overweight/obesity, and hyperphagia among patients with MYT1L haploinsufficiency were similar to those in patients with the 2p25.3 deletion syndrome, suggesting that MTY1L haplosufficiency is responsible for the 2p25.3 deletion phenotype.
Loid et al. (2018) reported a 13-year-old boy with MRD39 with early-onset obesity. The patient was overweight at age 1 year and obese at age 2 years. He had hyperphagia, speech delay, strabismus, hyperactivity, and neurologic, cognitive, and motor delay. The patient had no dysmorphic features, and his brain MRI was normal.
Cytogenetics
Stevens et al. (2011) identified heterozygous deletions of chromosome 2p25.3 in 3 adult sibs and 3 unrelated patients with intellectual disability. The patients were also overweight or obese but had no notable additional features. The deletions ranged in size from 0.37 to 3.13 Mb, and the minimal region of overlap included the MYT1L gene.
De Rocker et al. (2015) reported 14 patients, including 10 unrelated individuals and 4 members of the same family, with heterozygous deletions of chromosome 2p25.3 ranging in size from 120 kb to 6.07 Mb. All led to either partial or complete deletion of the MYT1L gene. Six additional patients, including 3 members of the same family, had 2p25.3 duplications ranging in size from 170 to 377 kb. These breakpoints were located in MYT1L, very likely leading to an aberrant transcript and loss of function. All patients, including the ones with duplications, had mild to moderate intellectual disability with speech delay, and the majority were overweight or obese. Additional features included behavioral problems, such as autism, aggression, hyperactivity, stereotypic hand movements, and sleep disturbances.
Mayo et al. (2015) reported a 4.5-year-old girl with a de novo intragenic deletion of MYT1L. She had neonatal hypotonia, microcephaly, delayed psychomotor development, and autistic features. Additional features included strabismus, myopia, recurrent otitis, and seizures; she was not overweight.
Inheritance
The transmission pattern of mental retardation in 2 families reported by De Rocker et al. (2015) was consistent with autosomal dominant inheritance.
Molecular Genetics
In a 12-year-old girl with autosomal dominant mental retardation, de Ligt et al. (2012) identified a de novo splice site mutation in the MYT1L gene (613084.0001). The patient was ascertained from a larger cohort of 100 patients with severe intellectual disability who underwent exome sequencing. Functional studies of the variant were not performed.
In a 13-year-old boy with MRD39, De Rocker et al. (2015) identified a de novo heterozygous truncating mutation in the MYT1L gene (Y639X; 613084.0002).
Using trio exome sequencing and a Genematcher-facilitated collaboration, Blanchet et al. (2017) reported 9 patients with impaired intellectual development and obesity, consistent with MRD39, who had mutations in the MYT1L gene, including 4 loss-of-function and 5 missense (see, e.g., 613084.0003) mutations. Using a knockout cell line, MYT1L loss of function was shown to result in dysregulated expression of neurodevelopmental genes. A knockdown zebrafish model demonstrated loss of oxytocin expression in the preoptic neuroendocrine area, which might explain how MYT1L mutations result in obesity. MYT1L was shown to be expressed at significantly higher levels in the adult cerebral cortex than in the hippocampus, basal ganglia, and hypothalamus, and in multiple hypothalamic structures at 15 to 16 postconception weeks.
In a 13-year-old boy with MRD39 and early-onset obesity, Loid et al. (2018) identified a de novo heterozygous frameshift deletion in the MYT1L gene (613084.0004). The mutation was identified by whole-genome sequencing and confirmed by Sanger sequencing. The frameshift variant was not present in the 1000 Genomes Project, ExAC, SweGen, or SISu Project databases, but was found in 1 of 8,696 alleles in the African population in the gnomAD database.
INHERITANCE \- Autosomal dominant GROWTH Weight \- Obesity (in most patients) NEUROLOGIC Central Nervous System \- Delayed development \- Intellectual disability \- Speech delay Behavioral Psychiatric Manifestations \- Autistic features \- Aggression \- Stereotypic movements MISCELLANEOUS \- Some patients have deletions or duplications of chromosome 2p25.3 encompassing several genes MOLECULAR BASIS \- Caused by mutation in the myelin transcription factor 1-like gene (MYT1L, 613084.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 39
|
c4225296
| 25,144 |
omim
|
https://www.omim.org/entry/616521
| 2019-09-22T15:48:38 |
{"doid": ["0070069"], "omim": ["616521"], "orphanet": ["178469"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 39, AND OBESITY"]}
|
Hemihypertrophy, now more commonly referred to as hemihyperplasia in the medical literature, is a condition in which one side of the body or a part of one side of the body is larger than the other to an extent considered greater than the normal variation. As establishing a set of clinical criteria for diagnosis of hemihyperplasia is difficult, the dictum is often used that the clinician should be able to see the asymmetry "from the end of the bed".[1]
Hemihyperplasia is seen in several congenital syndromes including Beckwith-Wiedemann syndrome and Russell-Silver syndrome.[2]
Hemihyperplasia is a congenital overgrowth disorder, and the asymmetry can range from mild to severe. Establishing a diagnosis is important because hemihyperplasia is associated with an increased risk for embryonal tumors, mainly Wilms tumor and hepatoblastoma.[3] Due to the heightened tumor risk, a tumor screening protocol is recommended for all children with isolated hemihyperplasia and Beckwith-Wiedemann Syndrome. Some of the other syndromes associated with hemihyperplasia may also follow this tumor-surveillance protocol. The recommended protocol is:
1. Any child with suspected isolated hemihyperplasia should be referred to a clinical geneticist for evaluation.
2. Abdominal ultrasound should be conducted every 3 months until 7 years old.
3. Serum alpha fetoprotein measurement should be done every 3 months until 4 years old.
4. Daily caretaker abdominal examination is at the discretion of the provider/parent.[4]
In some cases, children with hemihyperplasia may have different leg lengths. The two main surgical options for the treatment of uneven leg lengths are shortening and lengthening. Epiphysiodesis, which involves removing part of the growth plate of the longer leg, allowing the shorter leg to "catch up", may be performed on patients still able to grow. Bone resection is performed on patients who have no growth left and involves removing part of the bone. Leg lengthening procedures are more painful, involving the insertion of pins to be turned, moving parts of the bone apart (Ilizarov's method). This process is reserved mainly for patients with a discrepancy greater than 4 cm, although some leg lengthening procedures are now done cosmetically. Nonsurgical options include attachment of a lift to the shoe, allowing the patient to walk normally.
Children with hemihypertrophy may also develop scoliosis, a curvature of the spine.
Hemifacial hyperplasia is believed to be a minor form of hemihypertrophy.[5]
## References[edit]
1. ^ ACMG Practice Guidelines, Diagnostic criteria and tumor screening for individuals with Isolated Hemihyperplasia, Carol L. Clericuzio, MD, and Rick A. Martin, MD, acmg.net
2. ^ Silver, H. K.; Kiyasu, W; George, J; Deamer, W. C. (1953). "Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins". Pediatrics. 12 (4): 368–76. PMID 13099907.
3. ^ Clericuzio CL (2009). "Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia". Genetics in Medicine. 11 (3): 220–2. doi:10.1097/GIM.0b013e31819436cf. PMC 3111026. PMID 19367194.
4. ^ Ibid
5. ^ Urban PP, Bruening R, Roland B (September 2009). "Congenital isolated hemifacial hyperplasia". J. Neurol. 256 (9): 1566–9. doi:10.1007/s00415-009-5148-9. PMID 19424770.
## External links[edit]
* Hemihypertrophy entry in the public domain NCI Dictionary of Cancer Terms
This article incorporates public domain material from the U.S. National Cancer Institute document: "Dictionary of Cancer Terms".
This oncology 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
|
Hemihypertrophy
|
c0332890
| 25,145 |
wikipedia
|
https://en.wikipedia.org/wiki/Hemihypertrophy
| 2021-01-18T18:51:57 |
{"gard": ["2630", "12089"], "mesh": ["C565524"], "umls": ["C0332890"], "orphanet": ["2128"], "wikidata": ["Q2880638"]}
|
McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
McDonough syndrome
|
c0796038
| 25,146 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2471
| 2021-01-23T17:56:56 |
{"gard": ["3424"], "mesh": ["C538158"], "omim": ["248950"], "umls": ["C0796038"], "icd-10": ["Q87.8"]}
|
A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Autosomal recessive Stickler syndrome
|
c3279941
| 25,147 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=250984
| 2021-01-23T16:58:10 |
{"omim": ["614134", "614284"], "icd-10": ["Q87.5"]}
|
A number sign (#) is used with this entry because of evidence that posterior polymorphous corneal dystrophy-2 (PPCD2) is caused by heterozygous mutation in the COL8A2 gene (120252) on chromosome 1p34.
For a phenotypic description and a discussion of genetic heterogeneity of PPCD, see PPCD1 (122000).
Clinical Features
Biswas et al. (2001) reported a father and daughter with posterior polymorphous corneal dystrophy. Bilateral penetrating keratoplasty was performed in the proband in her twenties and in her father in his fifties.
Molecular Genetics
In 2 affected members of a family with posterior polymorphous corneal dystrophy, Biswas et al. (2001) identified a missense mutation in the triple helical domain of the COL8A2 gene (120252.0001), which encodes the alpha-2 chain of type VIII collagen, a short-chain collagen that is a component of endothelial basement membranes. They identified the same mutation in familial and sporadic cases of early-onset Fuchs endothelial corneal dystrophy (FECD; 136800). Biswas et al. (2001) suggested that the underlying pathogenesis of FECD and PPCD2 may be related to disturbance of the role of type VIII collagen in influencing the terminal differentiation of the neural crest-derived corneal endothelial cell.
In a family in which 1 member had PPCD2 and other members had early-onset FECD, Gottsch et al. (2005) found that all affected individuals were heterozygous for a leu450-to-trp (L450W) substitution (120252.0003).
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Corneal endothelial dystrophy \- Corneal decompensation secondary to endothelial dystrophy \- Endothelial cell multilayering with desmosomal intercellular attachments seen on ultrastructural analysis of corneal material \- Mulberry-like vesicles develop with the epithelial transformation of endothelial cells MISCELLANEOUS \- Onset by 12 years of age \- Based on 3 patients in 2 families (last curated December 2017) \- Limited clinical details available MOLECULAR BASIS \- Caused by mutation in the collagen type VIII alpha-2 gene ( 120252.0001 ) ▲ 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
|
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
|
c0339284
| 25,148 |
omim
|
https://www.omim.org/entry/609140
| 2019-09-22T16:06:36 |
{"doid": ["0110856"], "omim": ["609140"], "orphanet": ["98973"]}
|
Disease in plants
Chickpea plant (Cicer arietinum) with root rot. The pale leaves show symptomatic discolouration, distinct from the healthy green leaves
Root rot is a disease in plants, in which the roots of a plant rot and decay.[1]
## Contents
* 1 Symptoms and outcomes
* 2 Causes
* 3 Treatment and prevention
* 4 Hydroponics
* 5 See also
* 6 References
* 7 Further reading
## Symptoms and outcomes[edit]
Root rot is seen in both indoor plants, such as houseplants, and in outdoor plants such as trees.[1][2] It is more commonly seen in indoor plants.[1]
Plants' roots are not typically visible as they are below the surface of the soil, so the symptoms of root rot are often apparent only when the disease is advanced.[1] Roots of plants affected by root rot may turn from firm and white to black/brown and soft.[1][3][4][5] Affected roots may also fall off the plant when touched.[5][6] The leaves of affected plants may also wilt, become small or discolored.[2][3][6][7] Affected plants may also look stunted due to poor growth, develop cankers or ooze sap.[1][2][7]
Prolonged root rot may lead to death of the plant.[2] In extreme cases, plants affected by root rot may die within 10 days.[3] Root rot is usually[citation needed] lethal although it is treatable.[5] An affected plant will not normally survive, but may potentially be propagated.[citation needed]
## Causes[edit]
Root rot is primarily caused by poor drainage of damp soil, overwatering or a poorly functioning root system.[1][2][3][4] Prolonged exposure to excess water causes waterlogging, which interferes with aeration of the roots, leading to low oxygenation and decay.[6][2] Planting in a dense soil, such as garden soil, can also lead to root rot.[1] Rot can spread from affected roots to other ones.[6] Excess or insufficient light and fertilizer can also increase the chance of a plant developing root rot.[3][6]
Aside from waterlogging, many cases of root rot are caused by pathogens, such as the water mold genus Phytophthora;[4][7] particularly the species P. cinnamomi. Other commonly responsible pathogens include Pythium, Rhizoctonia, and Fusarium.[7][2] Spores from root rot causing agents do contaminate other plants, but the rot cannot take hold unless there is adequate moisture.[citation needed] Spores are not only airborne, but are also carried by insects and other arthropods in the soil.[citation needed] The wet environment of waterlogged soil promotes the growth of these fungi, allowing them to cause the disease.[7] Garden soil often contains spores of pathogens so it is not advised to be used as a potting medium for indoor house plants.[citation needed]
Other causes of root rot include:
* Armillaria, which cause white root rot disease and shoestring root rot[2]
* Rhododendron root rot
* Texas root rot
* Rosellinia necatrix, also known under its synonym Dematophora necatrix
* Scytinostroma galactinum, also known under its synonym Corticium galactinum
## Treatment and prevention[edit]
The most effective treatment for root rot is prevention such as destruction of affected plants.[7] It is recommended that, in localised cases of root rot, the affected plant simply be destroyed and the surrounding soil replaced.[4]
Treatment options depend on the extent of the rot.[1] To treat root rot, is recommended to replant the affected plant in fresh soil with good drainage to avoid standing water.[3][6] It is also recommended to gently wash diseased roots and remove all brown, soft parts of the roots with a sterilized pair of scissors or a tool such as a pulaski for larger roots.[1][2][3][5][6] Rapid treatment and replanting of root rot is imperative to stop the disease spreading to the rest of the affected plant or to other plants and to allow plants to form new roots.[1][5][6] Chemical treatments, such as fungicides, chloropicrin and methyl bromide may also be used to limit progression of the disease but must be specific to the responsible pathogen.[2][7]
Some sources claim that cinnamon powder is an effective treatment for reducing spread of root rot, when applied to exposed tissue after removal of diseased tissue.[8] Cinnamon is also claimed to act as a potential fungicide.[9]
To prevent recurrence and progression of root rot, it is recommended to water plants only when the soil becomes dry,[7] and to plant the plant in a well-drained pot.[3] It is recommended that pots used for diseased plants should be sterilized with bleach to kill potential spores.[3][5] This allows the plant to drain properly and prevents fungal spores affecting the plant.[3] It is recommended to keep the soil around the plant as dry as possible and to pry back the soil to allow proper aeration.[7]
## Hydroponics[edit]
Root rot can occur in hydroponic applications, if the water is not properly aerated[citation needed]. Aeration is usually accomplished by use of an air pump, air stones, air diffusers and by adjustment of the frequency and length of watering cycles where applicable. Hydroponic air pumps function in much the same way as aquarium pumps, which are used for the same purpose. Root rot and other problems associated with poor water aeration were principal reasons for the development of aeroponics.
## See also[edit]
* Pythium
* Plant pathology
## References[edit]
1. ^ a b c d e f g h i j k "What is Root Rot? - Definition from MaximumYield". www.maximumyield.com. Retrieved 2019-07-14.
2. ^ a b c d e f g h i j "Root Rot – Causes, Symptoms, Prevention, and Control". Elite Tree Care. Retrieved 2019-07-14.
3. ^ a b c d e f g h i j "How to Identify, Fight and Prevent Root Rot". Pennington.com. Retrieved 2019-07-14.
4. ^ a b c d "Phytophthora root rot". Royal Horticultural Society. Retrieved 2019-07-14.
5. ^ a b c d e f "Gardening Articles Root Rot". www.gardeningdirect.co.uk. Retrieved 2019-07-14.
6. ^ a b c d e f g h "Treating Root Rot – Gardening Tips For Houseplants". Gardening Know How. Retrieved 2019-07-14.
7. ^ a b c d e f g h i "Cause Of Root Rot: Root Rot Remedy For Garden Plants, Trees, And Shrubs". Gardening Know How. Retrieved 2019-07-14.
8. ^ "Cinnamon Fungicide and Pesticide". luv2garden.com. Retrieved 2019-07-14.
9. ^ "Benefits Of Cinnamon On Plants: Using Cinnamon For Pests, Cuttings, & Fungicide". Gardening Know How. Retrieved 2019-07-14.
## Further reading[edit]
* Shurtleff, Malcolm C. (1962) How to Control Plant Diseases in Home and Garden Iowa State University Press, Ames, Iowa, p. 73;
* Yepsen, Roger B. Jr. (1976) Organic plant protection: a comprehensive reference on controlling insects and diseases in the garden, orchard and yard without using chemicals Rodale Press, Emmaus, PA, pp. 194, 208, 212–213, 226, 247, 260, 295, 321, 333, 337, 469, 488, 577, and 629, ISBN 0-87857-110-8;
* Ellis, Barbara W. and Bradley, Fern Marshall (eds.) (1992) The Organic gardener's handbook of natural insect and disease control: a complete problem-solving guide to keeping your garden & yard healthy without chemicals Rodale Press, Emmaus, PA, p. 401, ISBN 0-87596-124-X;
* v
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Hydroculture
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Subtypes
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Substrates
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Related concepts
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* Commons
* Wikibooks
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Root rot
|
None
| 25,149 |
wikipedia
|
https://en.wikipedia.org/wiki/Root_rot
| 2021-01-18T18:54:27 |
{"wikidata": ["Q1442077"]}
|
## Clinical Features
In 2 unrelated patients, a boy and a girl, Moretti-Ferreira et al. (1993) described an overgrowth syndrome characterized by macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus), downward slant of the palpebral fissures, mental retardation, and delayed bone maturation. The parents were not consanguineous. The authors suggested that this syndrome is caused by a de novo autosomal mutation.
Zannolli et al. (2000) described a possible case of MOMO syndrome in a 5-year-old girl with mild mental retardation, macrocephaly, high and broad forehead with frontal bossing, hypertelorism, right optic disc coloboma, left choroidal coloboma, a large nose with broad nasal root, thick upper and lower lips, a high palate, dental malocclusion, short neck, severe obesity, slightly delayed bone maturation, short stature, and recurvation of the femur. Zannolli et al. (2000) suggested that tall stature, which was a feature in the patients reported by Moretti-Ferreira et al. (1993), may not be a diagnostic criterion for the disorder.
Giunco et al. (2008) described a 29-year-old man with macrosomia, obesity, macrocephaly, ocular anomalies (downslanting palpebral fissures, microphthalmia, nystagmus, convergent strabismus, hypertelorism), short neck, large nose with broad nasal root, macroglossia, high palate, large hands and feet, psychomotor delay, epileptic seizures since age 11 months, and the classic features of autism (see 209850). Giunco et al. (2008) suggested that this was the fourth reported case of MOMO syndrome and the first associated with autism.
Wallerstein and Sugalski (2010) described what they considered to be the fourth reported case of MOMO syndrome in a 6-year-old boy with macrosomia, obesity, macrocephaly, ocular anomalies (retinochoroidal coloboma, microphthalmia), cognitive delay, tactile defensiveness, and acute sensitivity to noise.
INHERITANCE \- Autosomal dominant GROWTH Height \- Height >90th percentile Weight \- Obesity Other \- Overgrowth HEAD & NECK Head \- Macrocephaly \- Brachycephaly Face \- High, broad forehead \- Frontal bossing \- Long, smooth philtrum Ears \- Simplified helices Eyes \- Retinal coloboma \- Nystagmus \- Downslanting palpebral fissures \- Glaucoma \- Hypertelorism \- Blindness \- Epicanthal folds \- Strabismus \- Eyelid coloboma Nose \- Broad nasal root Mouth \- Thick lips \- High-arched palate Teeth \- Dental malocclusion \- Taurodontia \- Delayed dental eruption Neck \- Short neck CHEST Ribs Sternum Clavicles & Scapulae \- Short sternum SKELETAL \- Delayed bone age Skull \- Macrocrania Hands \- Large hands Feet \- Large feet SKIN, NAILS, & HAIR Skin \- Cutis marmorata Nails \- Hyperconvex nails NEUROLOGIC Central Nervous System \- Mental retardation MISCELLANEOUS \- MOMO is an acronym - Macrosomia, Obesity, Macrocrania, Ocular abnormalities ▲ 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
|
MOMO SYNDROME
|
c1834759
| 25,150 |
omim
|
https://www.omim.org/entry/157980
| 2019-09-22T16:38:04 |
{"mesh": ["C535812"], "omim": ["157980"], "orphanet": ["2563"], "synonyms": ["Alternative titles", "MACROSOMIA, OBESITY, MACROCEPHALY, AND OCULAR ABNORMALITIES"]}
|
Senior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.
Nephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood. These cysts impair kidney function, initially causing increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). Nephronophthisis leads to end-stage renal disease (ESRD) later in childhood or in adolescence. ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively.
Leber congenital amaurosis primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. This condition causes vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). Some people with Senior-Løken syndrome develop the signs of Leber congenital amaurosis within the first few years of life, while others do not develop vision problems until later in childhood.
## Frequency
Senior-Løken syndrome is a rare disorder, with an estimated prevalence of about 1 in 1 million people worldwide. Only a few families with the condition have been described in the medical literature.
## Causes
Senior-Løken syndrome can be caused by mutations in one of at least five genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells; they are involved in signaling pathways that transmit information between cells. Cilia are important for the structure and function of many types of cells, including certain cells in the kidneys. They are also necessary for the perception of sensory input (such as vision, hearing, and smell).
Mutations in the genes associated with Senior-Løken syndrome likely lead to problems with the structure and function of cilia. Defects in these cell structures probably disrupt important chemical signaling pathways within cells. Although researchers believe that defective cilia are responsible for the features of this disorder, it remains unclear how they lead specifically to nephronophthisis and Leber congenital amaurosis.
Some people with Senior-Løken syndrome do not have identified mutations in one of the five genes known to be associated with the condition. In these cases, the genetic cause of the disorder is unknown.
### Learn more about the genes associated with Senior-Løken syndrome
* CEP290
* NPHP1
* WDR19
Additional Information from NCBI Gene:
* IQCB1
* NPHP4
* SDCCAG8
## 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
|
Senior-Løken syndrome
|
c4551559
| 25,151 |
medlineplus
|
https://medlineplus.gov/genetics/condition/senior-loken-syndrome/
| 2021-01-27T08:24:48 |
{"gard": ["322"], "mesh": ["C537580"], "omim": ["266900", "606995", "606996", "609254", "610189", "613615"], "synonyms": []}
|
Rare congenital disease characterized by external gaze palsy
Duane's syndrome
Other namesDRS[1]
Duane Syndrome type I in left eye. 10-year-old girl.
SpecialtyOphthalmology, genetics
Duane syndrome is a congenital rare type of strabismus most commonly characterized by the inability of the eye to move outward. The syndrome was first described by ophthalmologists Jakob Stilling (1887) and Siegmund Türk (1896), and subsequently named after Alexander Duane, who discussed the disorder in more detail in 1905.[2]
Other names for this condition include: Duane's retraction syndrome, eye retraction syndrome, retraction syndrome, congenital retraction syndrome and Stilling-Türk-Duane syndrome.[3]
## Contents
* 1 Presentation
* 2 Causes
* 3 Genetics
* 4 Diagnosis
* 4.1 Classification
* 4.2 Differential diagnosis
* 5 Treatment
* 6 Epidemiology
* 7 See also
* 8 References
* 9 Further reading
* 10 External links
## Presentation[edit]
Patient with Duane syndrome attempting to look far right. Notice the afflicted left eye faces straight and up, rather than following the right eye to the right.
The characteristic features of the syndrome are:
* Limitation of abduction (outward movement) of the affected eye.
* Less marked limitation of adduction (inward movement) of the same eye.
* Retraction of the eyeball into the socket on adduction, with associated narrowing of the palpebral fissure (eye closing).
* Widening of the palpebral fissure on attempted abduction. (N. B. Mein and Trimble[4] point out that this is "probably of no significance" as the phenomenon also occurs in other conditions in which abduction is limited.)
* Poor convergence.
* A head turn to the side of the affected eye to compensate for the movement limitations of the eye(s) and to maintain binocular vision.
While usually isolated to the eye abnormalities, Duane syndrome can be associated with other problems including cervical spine abnormalities Klippel–Feil syndrome, Goldenhar syndrome, heterochromia, and congenital deafness.[5]
## Causes[edit]
Duane syndrome is most probably a miswiring of the eye muscles, causing some eye muscles to contract when they shouldn't and other eye muscles not to contract when they should.[3] Alexandrakis and Saunders found that in most cases the abducens nucleus and nerve are absent or hypoplastic, and the lateral rectus muscle is innervated by a branch of the oculomotor nerve.[6] This view is supported by the earlier work of Hotchkiss et al. who reported on the autopsy findings of two patients with Duane's syndrome. In both cases the sixth cranial nerve nucleus and nerve was absent, and the lateral rectus muscle was innervated by the inferior division of the third or oculomotor nerve. This misdirection of nerve fibres results in opposing muscles being innervated by the same nerve. Thus, on attempted abduction, stimulation of the lateral rectus via the oculomotor nerve will be accompanied by stimulation of the opposing medial rectus via the same nerve; a muscle which works to adduct the eye. Thus, co-contraction of the muscles takes place, limiting the amount of movement achievable and also resulting in retraction of the eye into the socket. They also noticed mechanical factors and considered them secondary to loss of innervation: During corrective surgery fibrous attachments have been found connecting the horizontal recti and the orbital walls and fibrosis of the lateral rectus has been confirmed by biopsy. This fibrosis can result in the lateral rectus being 'tight' and acting as a tether or leash. Co-contraction of the medial and lateral recti allows the globe to slip up or down under the tight lateral rectus producing the up and down shoots characteristic of the condition.[7]
## Genetics[edit]
There are two known genetic associations with Duane Syndrome In some families the condition is associated with variants in the CHN1 gene[8] and in others it is associated with variants in the MAFB gene.[9]
## Diagnosis[edit]
### Classification[edit]
Duane's syndrome has three variants:
* Type I: Limited abduction with or without esotropia
* Type II: Limited adduction with or without exotropia
* Type III: Limitation of both abduction and adduction and any form of horizontal strabismus
Brown(1950) has classified Duane's syndrome according to the characteristics of the limitation of movement-
* Type A: with limited abduction and less-marked limitation of adduction
* Type B: showing limited abduction but normal adduction
* Type C: the limitation of adduction exceeds the limitation of abduction. There is an exotropic deviation and a head turn to compensate the loss of adduction
The first type is more common and accounts for 85% of the cases.[5][10]
### Differential diagnosis[edit]
In the clinical setting, the principal difficulties in differential diagnosis arise as a consequence of the very early age at which patients with this condition first present. The clinician must be persistent in examining abduction and adduction, and in looking for any associated palpebral fissure changes or head postures, when attempting to determine whether what often presents as a common childhood squint (note-"squint" is a British term for two eyes not looking in the same direction[11]) is in fact Duane syndrome. Fissure changes, and the other associated characteristics of Duane's such as up or down shoots and globe retraction, are also vital when deciding whether any abduction limitation is the result of Duane's and not a consequence of VI or abducens cranial nerve palsy.
Acquired Duane's syndrome is a rare event occurring after peripheral nerve palsy.[12]
## Treatment[edit]
The majority of patients remain symptom free and able to maintain binocularity with only a slight face turn. Amblyopia is uncommon and, where present, rarely dense. This can be treated with occlusion, and any refractive error can also be corrected.
Duane syndrome cannot be cured, as the "missing" cranial nerve cannot be replaced, and traditionally there has been no expectation that surgery will result in any increase in the range of eye movement. Surgical intervention, therefore, has only been recommended where the patient is unable to maintain binocularity, where they are experiencing symptoms, or where they are forced to adopt a cosmetically unsightly or uncomfortable head posture in order to maintain binocularity. The aims of surgery are to place the eye in a more central position and, thus, place the field of binocularity more centrally also, and to overcome or reduce the need for the adoption of an abnormal head posture. Occasionally, surgery is not needed during childhood, but becomes appropriate later in life, as head position changes (presumably due to progressive muscle contracture).[citation needed]
Surgical approaches include:
* Medial rectus recession in the involved eye or both eyes. By weakening the medial rectus muscles this procedure improves the crossed-eye appearance but does not improve outward eye movements (abductions).[citation needed]
* Morad et al. showed improved abduction after modest unilateral medial rectus recession and lateral rectus resection in a subgroup of patients with mild eye retraction and good adduction before surgery.[13]
* Lateral transposition of the vertical muscles described by Rosenbaum has been shown to improve range of movement of the eye. The surgical procedure produces 40-65 degrees of binocular field. Orbital wall fixation of the lateral rectus muscle (muscle is disinserted and reattached to lateral orbital wall) is recommended an effective method to inactivate a lateral rectus muscle in cases of marked anomalous innervation and severe cocontraction.[14]
## Epidemiology[edit]
Most patients are diagnosed by the age of 10 years and Duane's is more common in girls (60 percent of the cases) than boys (40 percent of the cases). A French study reports that this syndrome accounts for 1.9% of the population of strabismic patients, 53.5% of patients are female, is unilateral in 78% of cases, and the left eye (71.9%) is affected more frequently than the right.[15] Around 10–20% of cases are familial; these are more likely to be bilateral than non-familial Duane syndrome. Duane syndrome has no particular race predilection.[citation needed]
## See also[edit]
* Strabismus
* Strabismus surgery
* Pediatric ophthalmology
* Exotropia
* Esotropia
## References[edit]
1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Duane retraction syndrome". www.orpha.net. Retrieved 28 April 2019.
2. ^ Duane A (1905). "Congenital Deficiency of Abduction associated with impairment of adduction, retraction movements, contraction of the palpebral fissure and oblique movements of the eye". Archives of Ophthalmology. 34: 133–50.; Reprinted in Duane A (1996). "Congenital deficiency of abduction, associated with impairment of adduction, retraction movements, contraction of the palpebral fissure and oblique movements of the eye. 1905". Arch Ophthalmol. 114 (10): 1255–6, discussion 1257. doi:10.1001/archopht.1996.01100140455017. PMID 8859088.
3. ^ a b "Learning About Duane Syndrome". Retrieved 6 June 2007.
4. ^ Mein, J.; Trimble, R. (1991). Diagnosis and management of ocular motility disorders (2nd ed.). Blackwells.
5. ^ a b Myron Yanoff; Jay S. Duker (2009). Ophthalmology (3rd ed.). Mosby Elsevier. pp. 1333–1334. ISBN 9780323043328.
6. ^ Alexandrakis G, Saunders RA (September 2001). "Duane retraction syndrome". Ophthalmol. Clin. North Am. 14 (3): 407–17. doi:10.1016/S0896-1549(05)70238-8. PMID 11705140.
7. ^ Hotchkiss MG, Miller NR, Clark AW, Green WR (May 1980). "Bilateral Duane's retraction syndrome. A clinical-pathologic case report". Arch. Ophthalmol. 98 (5): 870–4. doi:10.1001/archopht.1980.01020030864013. PMID 7378011.
8. ^ Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, et al. (August 2008). "Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome". Science. 321 (5890): 839–43. Bibcode:2008Sci...321..839M. doi:10.1126/science.1156121. PMC 2593867. PMID 18653847.
9. ^ Zankl A, Duncan EL, Leo PJ, Clark GR, Glazov EA, Addor MC, Herlin T, Kim CA, Leheup BP, McGill J, McTaggart S, Mittas S, Mitchell AL, Mortier GR, Robertson SP, Schroeder M, Terhal P, Brown MA (March 2012). "Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB". Am. J. Hum. Genet. 90 (3): 494–501. doi:10.1016/j.ajhg.2012.01.003. PMC 3309183. PMID 22387013.
10. ^ Brown HW (1950). "Congenital structural muscle anomalies". In Allen JH (ed.). Starbismus Ophthalmic Symposium. St Louis: Mosby. pp. 205–36.
11. ^ "Squints & Lazy Eyes". Archived from the original on 17 January 2013. Retrieved 19 April 2015.
12. ^ Emmett T. Cunningham; Paul Riordan-Eva (17 May 2011). Vaughan & Asbury's general ophthalmology (18th ed.). McGraw-Hill Medical. pp. 245, 291. ISBN 978-0071634205.
13. ^ Morad, Y; Kraft, SP; Mims JL, 3rd (June 2001). "Unilateral recession and resection in Duane syndrome". Journal of AAPOS. 5 (3): 158–63. doi:10.1067/mpa.2001.114187. PMID 11404742.
14. ^ Rosenbaum, AL (October 2004). "Costenbader Lecture. The efficacy of rectus muscle transposition surgery in esotropic Duane syndrome and VI nerve palsy". Journal of AAPOS. 8 (5): 409–19. doi:10.1016/j.jaapos.2004.07.006. PMID 15492732.
15. ^ Mehel E, Quére MA, Lavenant F, Pechereau A (1996). "[Epidemiological and clinical aspects of Stilling-Turk-Duane syndrome]". J. Fr. Ophtalmol. (in French). 19 (8–9): 533–42. PMID 8944136.
## Further reading[edit]
* Andrews, Caroline V.; Hunter, David G.; Engle, Elizabeth C. (1993). "Duane Syndrome". GeneReviews. University of Washington, Seattle. Retrieved 28 April 2019.
## External links[edit]
Classification
D
* ICD-10: H50.8
* ICD-9-CM: 378.71
* OMIM: 126800 604356
* MeSH: D004370
* DiseasesDB: 30810
External resources
* eMedicine: oph/326
* GeneReviews: Duane Syndrome
* Orphanet: 233
* Duanes Syndrome at eMedicine
* v
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*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
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*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Duane syndrome
|
c0013261
| 25,152 |
wikipedia
|
https://en.wikipedia.org/wiki/Duane_syndrome
| 2021-01-18T18:42:32 |
{"gard": ["6288"], "mesh": ["D004370"], "umls": ["C4072873", "C1846464", "C0013261"], "orphanet": ["233"], "wikidata": ["Q1262684"]}
|
Ureterovaginal fistula
The diagnosis of ureterovaginal fistula has been known for some time (this illustration is from 1910) the location of the UV fistula is identified by the number five.
SpecialtyGynecology, Urology
A ureterovaginal fistula is an abnormal passageway existing between the ureter and the vagina. It presents as urinary incontinence. Its impact on women is to reduce the "quality of life dramatically."[1]
## Contents
* 1 Cause
* 2 Treatment
* 3 Epidemiology
* 4 References
* 5 Bibliography
* 6 External links
## Cause[edit]
A urerovaginal fistula is a result of trauma, infection, pelvic surgery, radiation treatment and therapy, malignancy, or inflammatory bowel disease. Symptoms can be troubling for women especially since some clinicians delay treatment until inflammation is reduced and stronger tissue has formed.[2] The fistula may develop as a maternal birth injury from a long and protracted labor, long dilation time and expulsion period. Difficult deliveries can create pressure necrosis in the tissue that is being pushed between the head of the infant and the softer tissues of the vagina, ureters, and bladder.[1]
Radiographic imaging can assist clinicians in identifying the abnormality.[3] A Ureterovaginal fistula is always indicative of an obstructed kidney necessitating emergency intervention followed later by an elective surgical repair of the fistula.[2]
[UN member states will engage in] Educating individual women and men, girls and boys, communities,
policymakers and health professionals about how obstetric fistula can be prevented and treated, and increasing awareness of the needs of pregnant women and girls, as well as of those who have undergone surgical fistula repair, including their right to the highest attainable standard of mental and physical health, including sexual and reproductive health, by working with community and religious leaders, traditional birth attendants and midwives, including women and girls who have suffered from fistula, the media, social workers, civil society, women’s organizations, influential
public figures and policymakers...[4]
## Treatment[edit]
Many women delay treatment for decades.[5] Surgeons often will correct the fistula through major gynecological surgery. Newer treatments can include the placement of a stent and is usually successful. In 0.5-2.5% of major pelvic surgeries a ureterovaginal fistula will form, usually weeks later.[2] If the fistula cannot be repaired, the clinician may create a permanent diversion of urine or urostomy.[6] Risks associated with the repair of the fistula are also associated with most other surgical procedures and include the risk of adhesions, disorders of wound healing, infection, ileus, and immobilization. There is a recurrence rate of 5%–15% in the surgical operation done to correct the fistula.[1]
## Epidemiology[edit]
Birth injuries that result in the formation of fistulas and urinary and fecal incontinence have been found to be strongly associated with economic and cultural factors.[4] Teenagers and women who sustain injuries that develop into ureterovaginal fistulas during childbirth suffer significant social stigma.[5] Ureterovaginal fistulas related to prolonged, obstructed labor are rare in developed nations but are more common in countries where access to emergent obstetrical care is limited.[7]
## References[edit]
1. ^ a b c Abele, p. 0675. sfn error: no target: CITEREFAbele (help)
2. ^ a b c Al Otaibi, Khalid; Barakat, Alaa-Eldin; El Darawany, Hamed; Sheikh, Abulhasan; Fadaak, Kamel; Al Sowayan, Ossamah; Alsuhaibani, Shaheed; Al Damanhouri, Reem; Madi, Maha; Elsadr, Ahmed (2012). "Minimally invasive treatment of ureterovaginal fistula: A review and report of a new technique". Arab Journal of Urology. 10 (4): 414–417. doi:10.1016/j.aju.2012.04.001. ISSN 2090-598X. PMC 4442914. PMID 26558060.
3. ^ Moon, Sung Gyu; Kim, Seung Hyup; Lee, Hak Jong; Moon, Min Hoan; Myung, Jae Sung (2001). "Pelvic Fistulas Complicating Pelvic Surgery or Diseases: Spectrum of Imaging Findings". Korean Journal of Radiology. 2 (2): 97–104. doi:10.3348/kjr.2001.2.2.97. ISSN 1229-6929. PMC 2718108. PMID 11752977.
4. ^ a b "Intensification of efforts to end obstetric fistula" (PDF). United Nations, General Assembly. 16 November 2016. pp. 7–8. Retrieved 2016-12-07.
5. ^ a b Grady, Denise (23 February 2009). "After a Devastating Birth Injury, Hope". New York Times. Retrieved April 30, 2020.
6. ^ Abele, p. 0782. sfn error: no target: CITEREFAbele (help)
7. ^ Abele, p. 0627. sfn error: no target: CITEREFAbele (help)
## Bibliography[edit]
Abele, H (2014). Atlas of gynecologic surgery. Stuttgart: Thieme. ISBN 978-3-13-650704-9.
## External links[edit]
Classification
D
* ICD-10: N82.0
* v
* t
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Ureterovaginal fistula
|
c0238133
| 25,153 |
wikipedia
|
https://en.wikipedia.org/wiki/Ureterovaginal_fistula
| 2021-01-18T18:39:49 |
{"umls": ["C0238133"], "wikidata": ["Q28136452"]}
|
## Description
Multiple types of congenital heart defects-3 (CHTD3) is an autosomal dominant condition characterized by various types of congenital heart defects and low atrial rhythm (van de Meerakker et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955.
Clinical Features
Van de Meerakker et al. (2011) studied a 4-generation family in which 13 individuals had various types of congenital cardiac defects and/or cardiac arrhythmias and/or conduction disturbances. All affected individuals exhibited 'low atrial rhythm' on electrocardiography (ECG), consisting of a p-wave frontal axis oriented in a superior direction, reflecting atrial pacemaker tissue located in the lower part of the atrium. The proband was a 33-year-old woman who was diagnosed in the first year of life with an incomplete atrioventricular septal defect (AVSD) consisting of a common atrium and a small communication between the left and right ventricles. During surgical correction of those defects at age 2.5 years, the presence of bilateral left atria with bilateral left atrial appendages was observed. At 33 years of age, she was asymptomatic. MRI demonstrated normal situs of the lungs and abdominal organs, and ECG consistently showed left QRS axis deviation and low atrial rhythm. Her asymptomatic sister and father both had normal echocardiography but low atrial rhythm on ECG; the father had bradycardia. The paternal aunt, who had bradycardia with AV-junctional escape rhythms in infancy and later developed intermittent complete AV dissociation, had no structural abnormalities on repeat echocardiograms. However, during placement of a cardiac pacemaker at 39 years of age due to chronic fatigue, the lead could not be placed in the right atrial appendage, which was assumed therefore to be absent. Imaging studies showed normal situs of lungs and abdominal organs. Her daughter was born with a large incomplete AVSD and secundum-type atrial septal defect (ASD II), and at the time of surgical correction was also found to have absence of the coronary sinus and a persistent left superior vena cava (LSVC); situs of lungs and abdominal organs was normal. ECG consistently showed low atrial rhythm. Cardiac defects present in other family members included tetralogy of Fallot with LSVC, aortic hypoplasia, LSVC with aberrant right subclavian artery, and secundum ASD. ECG abnormalities in addition to low atrial rhythm included bradycardia, incomplete or complete right bundle branch block, atrial fibrillation, and paroxysmal supraventricular tachycardia. Noting that the spectrum of congenital heart defects seen in this family was compatible with that seen in left isomerism, Van de Meerakker et al. (2011) suggested that their phenotype resembled a developmental laterality defect, albeit with mild expression that appeared to be restricted to the heart. The authors also suggested that the phenotype might represent an underlying developmental defect of the sinus node.
Mapping
In a 4-generation family segregating autosomal dominant congenital heart defects with disturbances of cardiac rhythm and conduction, in which linkage to the candidate cardiac transcription factor genes GATA4 (600576), TBX5 (601620), and NKX2-5 (600584) had been excluded, van de Meerakker et al. (2011) performed genomewide linkage analysis and identified significant linkage to a single locus on chromosome 9q shared by all affected individuals and absent from unaffected family members. The shared locus had a maximum multipoint lod score of 4.1 at marker D9S1690 at 9q31.1, and was delineated by markers D9S167 and D9S1682 based on haplotype analysis.
INHERITANCE \- Autosomal dominant CARDIOVASCULAR Heart \- Low atrial rhythm seen on ECG (in all patients) \- Right bundle branch block, complete or incomplete \- Atrioventricular block, first-degree \- Atrioventricular dissociation, intermittent complete \- Supraventricular tachycardia, paroxysmal \- Atrial fibrillation \- Atrioventricular septal defect, incomplete \- Atrial septal defect, secundum type \- Tetralogy of Fallot \- Bilateral left atria \- Bilateral left atrial appendages \- Absent right atrial appendage Vascular \- Persistent left superior vena cava MISCELLANEOUS \- Affected individuals may have more than 1 cardiac structural defect, or none at all \- Based on 13 patients in one family (last curated November 2012) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 3
|
c3554194
| 25,154 |
omim
|
https://www.omim.org/entry/614954
| 2019-09-22T15:53:33 |
{"omim": ["614954"], "synonyms": ["Alternative titles", "CONGENITAL HEART DEFECTS, MULTIPLE TYPES, WITH CARDIAC RHYTHM AND CONDUCTION DISTURBANCES"]}
|
Poland syndrome is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals.
People with Poland syndrome are typically missing part of one of the major chest muscles, called the pectoralis major. In most affected individuals, the missing part is the large section of the muscle that normally runs from the upper arm to the breastbone (sternum). The abnormal pectoralis major muscle may cause the chest to appear concave. In some cases, additional muscles on the affected side of the torso, including muscles in the chest wall, side, and shoulder, may be missing or underdeveloped. There may also be rib cage abnormalities, such as shortened ribs, and the ribs may be noticeable due to less fat under the skin (subcutaneous fat). Breast and nipple abnormalities may also occur, and underarm (axillary) hair is sometimes sparse or abnormally placed. In most cases, the abnormalities in the chest area do not cause health problems or affect movement.
Many people with Poland syndrome have hand abnormalities on the affected side, commonly including an underdeveloped hand with abnormally short fingers (brachydactyly); small, underdeveloped (vestigial) fingers; and some fingers that are fused together (syndactyly). This combination of hand abnormalities is called symbrachydactyly. Some affected individuals have only one or two of these features, or have a mild hand abnormality that is hardly noticeable; more severe abnormalities can cause problems with use of the hand. The bones of the forearm (radius and ulna) are shortened in some people with Poland syndrome, but this shortening may also be difficult to detect unless measured.
Mild cases of Poland syndrome without hand involvement may not be evident until puberty, when the differences (asymmetry) between the two sides of the chest become more apparent. By contrast, severely affected individuals have abnormalities of the chest, hand, or both that are apparent at birth. In rare cases, severely affected individuals have abnormalities of internal organs such as a lung or a kidney, or the heart is abnormally located in the right side of the chest (dextrocardia).
Rarely, chest and hand abnormalities resembling those of Poland syndrome occur on both sides of the body, but researchers disagree as to whether this condition is a variant of Poland syndrome or a different disorder.
## Frequency
Poland syndrome has been estimated to occur in 1 in 20,000 newborns. For unknown reasons, this disorder occurs more than twice as often in males than in females. Poland syndrome may be underdiagnosed because mild cases without hand involvement may never come to medical attention.
## Causes
The cause of Poland syndrome is unknown. Researchers have suggested that it may result from a disruption of blood flow during development before birth. This disruption is thought to occur at about the sixth week of embryonic development and affect blood vessels that will become the subclavian and vertebral arteries on each side of the body. The arteries normally supply blood to embryonic tissues that give rise to the chest wall and hand on their respective sides. Variations in the site and extent of the disruption may explain the range of signs and symptoms that occur in Poland syndrome. Abnormality of an embryonic structure called the apical ectodermal ridge, which helps direct early limb development, may also be involved in this disorder.
Rare cases of Poland syndrome are thought to be caused by a genetic change that can be passed down in families, but no related genes have been identified.
## Inheritance Pattern
Most cases of Poland syndrome are sporadic, which means they are not inherited and occur in people with no history of the disorder in their families. Rarely, this condition is passed through generations in families. In these families the condition appears to be inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder, although no associated genes have been found.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Poland syndrome
|
c0032357
| 25,155 |
medlineplus
|
https://medlineplus.gov/genetics/condition/poland-syndrome/
| 2021-01-27T08:24:45 |
{"gard": ["7412"], "mesh": ["D011045"], "omim": ["173800"], "synonyms": []}
|
This article relies largely or entirely on a single source. Relevant discussion may be found on the talk page. Please help improve this article by introducing citations to additional sources.
Find sources: "Zoophobia" – news · newspapers · books · scholar · JSTOR (April 2012)
Zoophobia or animal phobia is a class of specific phobias to particular animals,[1] or an irrational fear or even simply dislike of any non-human animals.
Examples of specific zoophobias would be entomophobias, such as that of bees (apiphobia). Fears of spiders (arachnophobia), birds (ornithophobia) and snakes (ophidiophobia) are also common. See the article at -phobia for the list of various phobias. Sigmund Freud mentioned that an animal phobia is one of the most frequent psychoneurotic diseases among children.[1]
## See also[edit]
* Entomophobia
* Ornithophobia
* List of phobias
## References[edit]
1. ^ a b Nandor Fodor, Frank Gaynor, "Freud: Dictionary of Psychoanalysis", 2004: ISBN 0-7607-5301-6 (initial publ. 1950), article "Zoophobia, infantile", pp. 205-206
This article about a disease, disorder, or medical condition is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
Look up zoophobia in Wiktionary, the free dictionary.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Zoophobia
|
c0233711
| 25,156 |
wikipedia
|
https://en.wikipedia.org/wiki/Zoophobia
| 2021-01-18T18:35:15 |
{"icd-10": ["F40.218"], "wikidata": ["Q944108"]}
|
Not to be confused with Spastic triplegia.
Triplegia is a medical condition characterized by the paralysis of three limbs (Triplegia Muscle Anatomy) . A person with triplegia can be referred to as triplegic. While there is no typical pattern of involvement, it is usually associated with paralysis of both legs and one arm — but can also involve both arms and one leg.[1] Triplegia can sometimes be considered a combination of hemiplegia (paralysis of arm and leg of one side of the body) overlaying diplegia (paralysis of both legs), or as quadriplegia (paralysis of four limbs) with less involvement in one extremity.[1]
The condition is commonly associated with cerebral palsy, although conditions such as stroke can also lead to it. Triplegia has also been found to be due to an increase in intracranial pressure associated with hydrocephalus resulting from traumatic brain injury.[2]
A similar condition is triparesis, in which the patient suffers from paresis in three limbs, meaning that the limbs are very weak, but not completely paralyzed.
In a case reported only due to its rarity, triplegia was reported following a tonsillectomy (surgical removal of the tonsils). An eight-year-old male patient was sent to Willard Parker Hospital on August 12, 1929 and had been diagnosed with poliomyelitis. After an unrelated, and routine, tonsillectomy there was complete flaccid paralysis and loss of feeling in both the legs, right arm, and muscles in the trunk.[3]
## References[edit]
1. ^ a b Miller, F.; Backrach, S. J. (1995). Cerebral Palsy: A Complete Guide for Caregiving. Johns Hopkins University Press. p. 433. ISBN 978-0801850912.
2. ^ Sheffler, Lynne R.; Ito, Valerie Y.; Philip, Puliyodil A.; Sahgal, Vinod (March 1994). "Shunting in chronic post-traumatic hydrocephalus: demonstration of neurophysiologic improvement". Archives of Physical Medicine and Rehabilitation. 75 (3): 338–341. doi:10.1016/0003-9993(94)90039-6. PMID 8129589.
3. ^ Brahdy, B. (1935). "Triplegia Following Tonsillectomy". Am J Dis Child. 49 (3): 716–721. doi:10.1001/archpedi.1935.01970030162015.
## External links[edit]
* Definition at Medical dictionary
* v
* t
* e
Symptoms and signs relating to movement and gait
Gait
* Gait abnormality
* CNS
* Scissor gait
* Cerebellar ataxia
* Festinating gait
* Marche à petit pas
* Propulsive gait
* Stomping gait
* Spastic gait
* Magnetic gait
* Truncal ataxia
* Muscular
* Myopathic gait
* Trendelenburg gait
* Pigeon gait
* Steppage gait
* Antalgic gait
Coordination
* Ataxia
* Cerebellar ataxia
* Dysmetria
* Dysdiadochokinesia
* Pronator drift
* Dyssynergia
* Sensory ataxia
* Asterixis
Abnormal movement
* Athetosis
* Tremor
* Fasciculation
* Fibrillation
Posturing
* Abnormal posturing
* Opisthotonus
* Spasm
* Trismus
* Cramp
* Tetany
* Myokymia
* Joint locking
Paralysis
* Flaccid paralysis
* Spastic paraplegia
* Spastic diplegia
* Spastic paraplegia
* Syndromes
* Monoplegia
* Diplegia / Paraplegia
* Hemiplegia
* Triplegia
* Tetraplegia / Quadruplegia
* General causes
* Upper motor neuron lesion
* Lower motor neuron lesion
Weakness
* Hemiparesis
Other
* Rachitic rosary
* Hyperreflexia
* Clasp-knife response
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Triplegia
|
c0270791
| 25,157 |
wikipedia
|
https://en.wikipedia.org/wiki/Triplegia
| 2021-01-18T18:46:06 |
{"wikidata": ["Q7843546"]}
|
Familial isolated hyperparathyroidism (FIHP) is an inherited form of primary hyperparathyroidism that is not associated with other features. The age of diagnosis varies from childhood to adulthood. In FIHP, tumors involving the parathyroid glands cause the production and release of excess parathyroid hormone, which in turn causes increased calcium in the blood (hypercalcemia). The tumors are usually benign, but a cancerous tumor can develop in rare cases. Abnormal levels of calcium cause many of the symptoms of FIHP, including kidney stones, nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue. Osteoporosis often also develops. FIHP may be caused by mutations in the MEN1, CDC73 (also known as the HRPT2 gene), or CASR genes and is typically inherited in an autosomal dominant manner. In some cases, the cause is unknown. Mutations in the MEN1 and CDC73 genes cause other conditions in which hyperparathyroidism is one of many features, but some people with mutations in these genes have only isolated hyperparathyroidism. FIHP can also represent an early stage of other syndromes. Treatment for FIHP often includes surgical removal of the affected gland(s).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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 isolated hyperparathyroidism
|
c0271846
| 25,158 |
gard
|
https://rarediseases.info.nih.gov/diseases/2837/familial-isolated-hyperparathyroidism
| 2021-01-18T18:00:33 |
{"omim": ["145000"], "umls": ["C0271846"], "orphanet": ["2207"], "synonyms": ["Hyperparathyroidism 1", "HRPT1", "Hyperparathyroidism, familial isolated primary", "FIHP", "Familial primary hyperparathyroidism"]}
|
Linguatulosis
Linguatula
SpecialtyInfectious disease
Linguatulosis is a condition associated with the organism Linguatula serrata.
The usual final host for Linguatula serrata is a carnivore, like a dog or jackal, and the species is sometimes known as the dog tongueworm for this reason.[1]
More generally, linguatulosis can be considered a form of "pentastomiasis", which refers to all diseases caused by pentastomids, including porocephaliasis.
This disease is often accidentally identified during autopsy because of its asymptomatic effect on the body.
Human infestation by Linguatula was historically more commonplace than is sometimes realised. Human liver autopsies in Berlin from the early part of the 20th century revealed an infection rate of nearly 12%.[2]
## Contents
* 1 Signs and symptoms
* 2 Visceral and nasopharyngeal
* 3 Transmission
* 4 Treatment
* 5 References
* 6 External links
## Signs and symptoms[edit]
It is usually asymptomatic unless the complication and infection is severe. But in some recorded cases, symptoms include nasopharyngitis accompanied by pain, itching of throat and ears. Coughing, hemoptysis and vomiting are verifiable indications as well as sneezing, bleeding, dyspnea, and inflammation.
## Visceral and nasopharyngeal[edit]
Humans can become infected in two ways: either as an intermediate host (visceral linguatuliasis) or as an accidental final host (nasopharyngeal linguatuliasis).
* In visceral linguatuliasis Linguatula eggs are sneezed or defecated out by the primary host. Normally they would be eaten by a herbivorous mammal (the intermediate host), including various domestic animals .[3] The eggs hatch in the intestines and the resulting larvae burrow their way into the visceral cavity of the body. Here they form cysts or granulomas, typically in the liver or the lymph nodes. This can also occur in humans if the eggs are accidentally swallowed, although the victim may not be aware of the infestation and misdiagnosis as liver disease can even occur .[4] Rarely, the larvae of both Lingulatula and Armillifer can enter the eye accidentally [5]
* In nasopharyngeal linguatuliasis it is the encysted larvae which are consumed, usually via raw or poorly cooked meat. Once in the stomach, the larvae become liberated from their cysts within a couple of hours and then crawl up the oesophagus and establish themselves in the nose, pharynx or lungs — holding themselves in place with the hooks flanking the mouth .[6] Presence of the parasite can induce headaches, coughing and nasal discharge which obviously helps to spread the infection. Nasopharyngeal linguatuliasis appears to be quite prevalent throughout the Middle East where it is often known as the Halzoun syndrome after religious festivals in which infected raw meat is consumed .[7] In Sudan nasopharyngeal linguatuliasis is known as Marrara syndrome; Marrara is a popular local dish prepared from raw offal. It has been suggested that up to 20% of the population in some parts of Sudan may be affected by this syndrome at some stage of their lives .[8]
## Transmission[edit]
Eating raw or semi-cooked infected liver or lymph nodes infected with nymphal L. serrata causes severe symptoms in the human nasopharynx. Submaxillary and cervical lymph nodes sometimes enlarge and the neck is swollen. Complications include abscesses in the auditory canals, facial paralysis, and enlarged tonsils producing asphyxiation. These symptoms are well recognized as a disease called “halzoun syndrome” in Lebanon and nearby countries.
In Egypt, infected camels and buffalo may also be a source of infection for dogs, which are companions of man in desert and semi-desert areas where grazing is a major profession, and in villages, where dogs are also common. Infected dogs, in turn, are a source of infection to man who may be an intermediate host.[9]
## Treatment[edit]
There is antibiotic therapy for secondary infections caused by the parasite. However, surgical removal is usually the only way to get rid of the parasites.
## References[edit]
1. ^ R. Heymons (1942). "Der Nasenwurm des Hundes (Linguatula serrata Froelich), seine Wirte und Beziehungen zur europäischen Tierwelt, seine Herkunft und praktische Bedeutung auf Grund unserer bisherigen Kenntnisse". Zeitschrift für Parasitenkunde. 12 (6): 607–638. doi:10.1007/BF02121635.
2. ^ M. Koch (1906). "Zur Kenntnis des Parasitismus der Pentastomen". Verhandlungen der Deutschen Gesellschaft für Pathologie. 10: 265–279.
3. ^ R. Ravindran; B. Lakshmanan; C. Ravishankar; H. Subramanian (2008). "Prevalence of Linguatula serrata in domestic ruminants in South India" (PDF). Southeast Asian Journal of Tropical Medicine and Public Health. 39: 808–812. Archived from the original (PDF) on 2011-07-24.
4. ^ M. A. C. Machado; F. F. Makdissi; L. F. Canedo; Crescentini Martino. R. B.; Chieffi F.; Bachella P. P.; M. C. C. Machado (2006). "Unusual case of pentastomiasis mimicking liver tumor" (PDF). Journal of Gasteroenterology and Hepatology. 21 (7): 1218–1220. CiteSeerX 10.1.1.624.8277. doi:10.1111/j.1440-1746.2006.03203.x. PMID 16824083. Archived from the original (PDF) on 2011-07-06.
5. ^ R. F. Lazo; E. Hidalgo; J. E. Lazo; A. Bermeo; M. Llaguno; J. Murillo; V. P. A. Teixeria (1999). "Ocular linguatuliasis in Ecuador: case report and morphometric study of the larva of Linguatula serrata" (PDF). American Journal of Tropical Medicine and Hygiene. 60 (3): 405–409. doi:10.4269/ajtmh.1999.60.405.[permanent dead link]
6. ^ D. Tappe; R. Winzer; D. W. Büttner; P. Ströbel; A. Stich; H. Klinker; M. Frosch (2006). "Linguatuliasis in Germany". Emerging Infectious Diseases. 12 (6): 1034–1036. doi:10.3201/eid1206.051413. PMC 3293438.
7. ^ M. R. Siavashi; M. Assmat; A. Vatankhah (2002). "Nasopharyngeal pentastomiasis (Halzoun): report of 3 cases" (PDF). Iranian Journal of Medical Sciences. 27: 191–192. Archived from the original (PDF) on 2011-07-21.
8. ^ H. Yagi; S. Mohamed El Bahari; Sid Ahmed H. A.; Mustafa E. R.; Mahmoud B.; Saad M.; Sulaiman M. B. A.; A. M. El Hassan (1996). "The Marrara syndrome: a hypersensitivity reaction of the upper respiratory tract and buccopharyngeal mucosa to nymphs of Linguatula serrata". Acta Tropica. 62 (3): 127–134. doi:10.1016/S0001-706X(96)00017-4.
9. ^ Galila M. Khalil (1976). "Prevalence of Linguata serrata infection in animals from the Cairo Abattoir". Journal of Parasitology. 62 (1): 126. doi:10.2307/3279065. JSTOR 3279065.
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|
Linguatulosis
|
c0277474
| 25,159 |
wikipedia
|
https://en.wikipedia.org/wiki/Linguatulosis
| 2021-01-18T18:45:07 |
{"umls": ["C0277474"], "icd-10": ["B88.8"], "wikidata": ["Q4261893"]}
|
Electroanalgesia is a form of analgesia, or pain relief, that uses electricity to ease pain. Electrical devices can be internal or external, at the site of pain (local) or delocalized throughout the whole body. It works by interfering with the electric currents of pain signals, inhibiting them from reaching the brain and inducing a response; different from traditional analgesics, such as opiates which mimic natural endorphins and NSAIDs (non-steroidal anti-inflammatory drugs) that help relieve inflammation and stop pain at the source. Electroanalgesia has a lower addictive potential and poses less health threats to the general public, but can cause serious health problems, even death, in people with other electrical devices such as pacemakers or internal hearing aids, or with heart problems.
## Contents
* 1 History
* 2 Technology
* 2.1 Transcranial electrostimulation
* 2.2 Deep brain stimulation
* 2.3 Peripheral nerve stimulation
* 2.4 Percutaneous electrical nerve stimulation
* 2.5 Percutaneous neuromodulation therapy
* 2.6 Transcutaneous electrical nerve stimulation
* 2.7 Transcutaneous acupoint electrical stimulation
* 2.8 H-wave therapy
* 2.9 Interferential current therapy
* 2.10 Piezo-electric current therapy
* 3 Controversies
* 4 See also
* 5 References
## History[edit]
The first cases of electroanalgesia were documented by Greek scholars, Plutarch and Socrates, who noticed numbing effects of standing in pools of water on a beach that contained electric fish.[1] The Chinese practice of acupuncture, dating back to 3000 BCE, also utilizes the properties of electroanalgesia by stimulating specific nerves to produce electrical signals which produce pleasurable responses in the brain.[2] Another ancient analgesic method, aging back to 5000 BCE in Sumer, is to use natural minerals, vitamins, and herbs, usually in a mixture with other natural products. Technology invented specifically for electroanalgesia emerged at the beginning of the 1900s.
## Technology[edit]
Advancements in technology within the past fifteen years have created multiple forms of electroanalgesia. Doctors can target specific electrical signals caused by pain and cancel them out using electrical signals, optimally with alternating low and high frequencies.
### Transcranial electrostimulation[edit]
A theoretical explanation for the mechanism of pain reduction by transcranial electrostimulation, or TCES, suggests that the electrical stimulation activates the anti-nociceptive system in the brain, resulting in β-endorphin, serotonin and noradrenaline release.[3] TCES can be used on people with cervical pain, chronic lower back syndrome, or migraines.[3] It cannot be used on people with orthopedic or radiological potentially serious spinal conditions, hydrocephalus, epilepsy, glaucoma, malignant hypertension, pacemaker or other implanted electronic device; recent cerebral trauma, nervous system infection, skin lesions at sites of electrode placement; oncological disease; patients undergoing any other treatments for pain; any invasive therapy, e.g. surgery, within the last month.[3] The equipment used is Pulse Mazor Instruments' Pulsatilla 1000, which consists of a headset with three electrodes, two that go behind the ears and one that goes on the forehead, that release set frequencies of electricity at set intervals.
### Deep brain stimulation[edit]
Deep brain stimulation, or DBS, was first evaluated as an electroanalgesic in the late 1950s. It works in some chronic pain patients. The mechanism of DBS is unknown. There is some evidence that it decreases pain transmission along sensory discriminative pathways although more recent studies have shown that it has central effects on other brain regions involved in the pain network (Pereira et al. 2007).[4] This method has mainly been used for chronic pain patients after all other options have failed due to potential of intracranial complications (e.g., intracranial hemorrhage, infection, and oculomotor abnormalities). An electrode is "stereotactically" guided to the site using magnetic resonance imaging and once in place, the electrode is activated by subcutaneous leads attached to a pulse generator under the skin. It is effective in treating refractory post-stroke pain, atypical face pain, anaesthesia dolorosa, and deafferentation and somatic pain such as in phantom limb or brachial plexus injury (Boccard et al. 2013).[5]
### Peripheral nerve stimulation[edit]
The use of peripheral nerve stimulation, or PNS, for the relief of chronic pain states was first reported over 30 years ago.[6] Recent studies have demonstrated that electrical stimulation of nerves leads to inhibitory input to the pain pathways at the spinal cord level.[7] PNS is most effective in the treatment of neuropathic pain (e.g., posttraumatic neuropathy, diabetic neuropathy) when the nerve lesion is distal to the site of stimulation.[8]
### Percutaneous electrical nerve stimulation[edit]
Percutaneous electrical nerve stimulation, or PENS, is used mainly in the treatment of intractable pain associated with chronic low back pain syndrome, cancer, and other disorders.[8] It is a technique involving insertion of an ultra-fine acupuncture needle which probes into the soft tissues or muscles to electrically stimulate nerve fibers in the sclerotomal, myotomal, or dermatomal distribution corresponding to the patient's pain symptoms. PENS is related to both electroacupuncture and transcutaneous electrical nerve stimulation.[8]
### Percutaneous neuromodulation therapy[edit]
PENS used to be a term to describe a neurosurgical procedure involving implantation of temporary stimulating electrodes before an SCS device.[9] The term has recently been changed to percutaneous neuromodulation therapy, or PNT. The term PNT was chosen because it more accurately describes the neurophysiologic basis for PENS-induced analgesia.
### Transcutaneous electrical nerve stimulation[edit]
Main article: Transcutaneous electrical nerve stimulation
Transcutaneous electrical nerve stimulation, or TENS, involves the transmission of electrical energy from an external stimulator to the peripheral nervous system via cutaneously placed conductive gel pads. TENS can be subclassified into two variants:
* low-intensity (1–2 mA), high-frequency (50–100 Hz) TENS; and
* acupuncture-like high-intensity (15–20 mA), low-frequency (1–5 Hz) or "dense-disperse" TENS.[10]
The purported mechanism of action of TENS invokes both spinal supraspinal theories.[8]
### Transcutaneous acupoint electrical stimulation[edit]
Transcutaneous acupoint electrical stimulation, or TAES, is a variant of TENS therapy that involves applying cutaneous electrodes at classical Chinese acupoints and stimulating with alternating high- and low-frequency electric current ("dense-disperse").[11] Acupoint stimulation is as effective as dermatomal stimulation in producing an analgesic-sparing effect after lower abdominal surgery[12]
### H-wave therapy[edit]
"H-wave" redirects here. For the concept in electromyography, see H-reflex.
H-wave therapy (HWT) is a form of electrical stimulation that produces a direct, localized effect on the conduction of underlying nerves.[13] The electrical stimulation used in HWT differs from other forms of electrical stimulation such as TENS in terms of its waveform; it is intended to emulate the H waveform found in nerve signals, thus permitting the machine to use less power while attaining greater and deeper penetration of its low-frequency current. The waves used in HWT are distinct from the H-waves that are part of electromyography. It has been used in the treatment of pain related to diabetic neuropathy, muscle sprains, temporomandibular joint disorders, type I complex regional pain syndrome as well as the healing of wounds such as diabetic ulcers.[14][15] This electroanalgesic modality was originally recommended as an alternative to TENS for dental analgesia. In a 1999 randomized controlled trial involving a mechanical pain model, the analgesic effects of HWT were found to be short-lasting and identical to those provided by TENS therapy.[16] HWT has not been shown effective in reducing pain in cases other than diabetic neuropathy, nor has it been shown effective in reducing edema or swelling, and it has specifically not been shown effective in treating chronic pain due to ischemia.[15]
### Interferential current therapy[edit]
Interferential current therapy, or ICT, is another variant of TENS that uses the principle of amplitude modulation to decrease the discomfort of stimulating deeper tissues (e.g., muscle) when using transcutaneously applied electric current.[17] A combination of different stimulation frequencies are used (i.e., one fixed at 4 kHz and another within a variable range) to generate frequencies between 4 and 250 Hz which are alleged to more effectively penetrate the soft tissues while producing less discomfort at the skin surface.[18] With ICT, its postulated mechanism of analgesic action is through direct stimulation of muscle fibers rather than nerves, allegedly improving muscle blood flow and promoting the healing process. Although ICT is used widely in the physiotherapy and rehabilitative medicine settings, there is a dearth of rigorously controlled studies to justify its effectiveness in the management of either acute or chronic pain syndromes.[8]
### Piezo-electric current therapy[edit]
Piezo-electric current therapy, or PECT, is an analgesic technique based on the principle that mechanical deformation of a motorized piezoelectric ceramic rod produces a burst of 10 electrical pulses (five positive and five negative), each lasting 2–3 ms. Each electrical burst lasts for 50 to 250 ms (depending on the motor speed set) and generates a current of approximately 25 mA. The application of PECT to the skin for 2 min produces a tolerable "pricking" pain sensation associated with a neurogenic inflammatory response lasting 3–4 h.[8] The extent and duration of this inhibitory process is directly related to the intensity of the applied stimulus and is alleged to be associated with the release of endogenous endorphins.[19]
## Controversies[edit]
Electroanalgesia poses serious health problems in those patients who need other electrical equipment in their bodies, such as pacemakers and hearing aids, because the electrical signals of the multiple devices can interfere with each other and fail. People with heart problems, such as irregular heartbeat, are also at risk because the devices can throw off the normal electrical signal of the heart.
## See also[edit]
* Analgesic
* Audioanalgesia
* Pain management
* Patient-controlled analgesia
* Pain in babies
* Congenital analgesia (insensitivity to pain)
## References[edit]
1. ^ [Jensen, Jack E., Richard R. Conn, Gary Hazelrigg, and John E. Hewett. "The Use of Transcutaneous Neural Stimulation and Isokinetic Testing in Arthroscopic Knee Surgery." The American Journal of Sports Medicine 13 (1985): 27-33].
2. ^ [White, Paul F. "Electroanalgesia: Does it have a place in the routine management of acute and chronic pain?" Anesthesia and Analgesia 98 (2004): 1197-198.].
3. ^ a b c [Gabis L, Shklar B, Geva D: Immediate influence of transcranial electrostimulation on pain and β-endorphin blood levels: An active placebo-controlled study. Am J Phys Med Rehabil 2003;82:81-85.].
4. ^ [Pereira EA, Green AL, Bradley KM, Soper N, Moir L, Stein JF, Aziz TZ. Regional Cerebral Perfusion Differences between Periventricular Grey, Thalamic and Dual Target Deep Brain Stimulation for Chronic Neuropathic Pain. Stereotact Funct Neurosurg 2007 Mar 27;85(4):175-183 .].
5. ^ [Boccard SG, Pereira EA, Moir L, Aziz TZ, Green AL.Long-term Outcomes of Deep Brain Stimulation for Neuropathic Pain. Neurosurgery 2013;72(2):221-31 .].
6. ^ [Wall PD, Sweet WH. Temporary abolition of pain in man. Science 1967;155:108 –9.].
7. ^ [Hanai F. Effect of electrical stimulation of peripheral nerves on neuropathic pain. Spine 2000;25:1886 –92.].
8. ^ a b c d e f [White, Paul F., Shitong Li, and Jen W. Chiu. "Electroanalgeia: Its Role in Acute and Chronic Pain Management." Anestesia and Analgesia 92 (2001): 505-13.].
9. ^ [North RB, Fischell TA, Long DM. Chronic stimulation via percutaneously inserted epidural electrodes. Neurosurgery 1977;1: 215–8.].
10. ^ [Han JS, Chen XH, Sun SL, et al. Effect of low- and high-frequency TENS on Met-enkephalin-Arg-Phe and dynorphin A immunoreactivity in human lumbar CSF. Pain 1991;47:295– 8.].
11. ^ [Wang BG, Tang J, White PF, et al. Effect of the intensity of transcutaneous acupoint electrical stimulation on the postoperative analgesic requirement. Anesth Analg 1997;85:406 –13.].
12. ^ [Chen L, Tang J, White PF, et al. The effect of location of transcutaneous electrical nerve stimulation on postoperative opioid analgesic requirement: acupoint versus nonacupoint stimulation. Anesth Analg 1998;87:1129 –34.].
13. ^ McDowell, Brona C.; Andrea S. Lowe; Deirdre M. Walsh; G. David Baxter; Jim M. Allen (September 1996). "The effect of H-wave therapy upon conduction in the human superficial radial nerve in vivo" (PDF). Experimental Physiology. New York City: Cambridge University Press. 81 (5): 821–832. doi:10.1113/expphysiol.1996.sp003979. ISSN 0958-0670. OCLC 20954666. PMID 8889480. S2CID 28503406.
14. ^ "H-Wave Stimulation" (PDF). Medical Policy Manual. The Regence Group. 2014-02-01. Retrieved 2014-02-22.
15. ^ a b "Clinical Policy Bulletin: Electrical Stimulation for Pain". Aetna. 2009-03-04. Retrieved 2009-06-02.
16. ^ McDowell, Brona C.; Kenneth McCormack; Deirdre M. Walsh; David G. Baxter; Jim M. Allen (September 1999). "Comparative analgesic effects of H-wave therapy and transcutaneous electrical nerve stimulation on pain threshold in humans". Archives of Physical Medicine and Rehabilitation. W. B. Saunders. 80 (9): 1001–1004. doi:10.1016/S0003-9993(99)90051-5. ISSN 0003-9993. OCLC 1513891. PMID 10488999.
17. ^ "The right manner, the mid-frequency current". tenspros. Retrieved 1 August 2016.
18. ^ [Goats GC. Interferential current therapy. Br J Sports Med 1990; 24:87–92.].
19. ^ [Willer JC, Le Bars D, De Broucker T. Diffuse noxious inhibitory control in man: involvement of an opioidergic link. Eur J Pharmacol 1990;182:347–55.].
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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
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*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Electroanalgesia
|
None
| 25,160 |
wikipedia
|
https://en.wikipedia.org/wiki/Electroanalgesia
| 2021-01-18T18:33:37 |
{"wikidata": ["Q3721928"]}
|
Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Craniofacial conodysplasia
|
None
| 25,161 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85168
| 2021-01-23T16:56:25 |
{"icd-10": ["Q87.5"]}
|
Villoglandular adenocarcinoma of the cervix
Other namesVilloglandular papillary adenocarcinoma, papillary villoglandular adenocarcinoma, well-differentiated villoglandular adenocarcinoma (VGA)
Micrograph of a villoglandular adenocarcinoma the cervix. H&E stain.
SpecialtyPathology, gynecology
Villoglandular adenocarcinoma of the cervix is a rare type of cervical cancer that, in relation to other cervical cancers, is typically found in younger women and has a better prognosis.[1]
A similar lesion, villoglandular adenocarcinoma of the endometrium, may arise from the inner lining of the uterus, the endometrium.[2]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 5 See also
* 6 References
## Signs and symptoms[edit]
The signs and symptoms are similar to other cervical cancers and may include post-coital bleeding and/or pain during intercourse (dyspareunia). Early lesions may be completely asymptomatic.[citation needed]
## Cause[edit]
This section is empty. You can help by adding to it. (August 2017)
## Diagnosis[edit]
The diagnosis is based on tissue examination, e.g. biopsy.
The name of the lesion describes it microscopic appearance. It has nipple-like structures with fibrovascular cores (papillae) that are long in relation to their width (villus-like), which are covered with a glandular pseudostratified columnar epithelium.[citation needed]
* Very low mag.
* Intermed. mag.
* Very high mag.
## Treatment[edit]
The treatment is dependent on the stage. As the prognosis of this tumour is usually good, fertility sparing approaches (conization, cervicectomy) may be viable treatment options.[citation needed]
## See also[edit]
* Endometrial cancer
* Glassy cell carcinoma
* Villous adenoma
## References[edit]
1. ^ Korach, J.; Machtinger, R.; Perri, T.; Vicus, D.; Segal, J.; Fridman, E.; Ben-Baruch, G. (2009). "Villoglandular papillary adenocarcinoma of the uterine cervix: a diagnostic challenge". Acta Obstet Gynecol Scand. 88 (3): 355–8. doi:10.1080/00016340902730359. PMID 19172445. S2CID 5835426.
2. ^ Zaino, RJ.; Kurman, RJ.; Brunetto, VL.; Morrow, CP.; Bentley, RC.; Cappellari, JO.; Bitterman, P. (Nov 1998). "Villoglandular adenocarcinoma of the endometrium: a clinicopathologic study of 61 cases: a gynecologic oncology group study". Am J Surg Pathol. 22 (11): 1379–85. doi:10.1097/00000478-199811000-00008. PMID 9808130.
* v
* t
* e
Tumors of the female urogenital system
Adnexa
Ovaries
Glandular and epithelial/
surface epithelial-
stromal tumor
CMS:
* Ovarian serous cystadenoma
* Mucinous cystadenoma
* Cystadenocarcinoma
* Papillary serous cystadenocarcinoma
* Krukenberg tumor
* Endometrioid tumor
* Clear-cell ovarian carcinoma
* Brenner tumour
Sex cord–gonadal stromal
* Leydig cell tumour
* Sertoli cell tumour
* Sertoli–Leydig cell tumour
* Thecoma
* Granulosa cell tumour
* Luteoma
* Sex cord tumour with annular tubules
Germ cell
* Dysgerminoma
* Nongerminomatous
* Embryonal carcinoma
* Endodermal sinus tumor
* Gonadoblastoma
* Teratoma/Struma ovarii
* Choriocarcinoma
Fibroma
* Meigs' syndrome
Fallopian tube
* Adenomatoid tumor
Uterus
Myometrium
* Uterine fibroids/leiomyoma
* Leiomyosarcoma
* Adenomyoma
Endometrium
* Endometrioid tumor
* Uterine papillary serous carcinoma
* Endometrial intraepithelial neoplasia
* Uterine clear-cell carcinoma
Cervix
* Cervical intraepithelial neoplasia
* Clear-cell carcinoma
* SCC
* Glassy cell carcinoma
* Villoglandular adenocarcinoma
Placenta
* Choriocarcinoma
* Gestational trophoblastic disease
General
* Uterine sarcoma
* Mixed Müllerian tumor
Vagina
* Squamous-cell carcinoma of the vagina
* Botryoid rhabdomyosarcoma
* Clear-cell adenocarcinoma of the vagina
* Vaginal intraepithelial neoplasia
* Vaginal cysts
Vulva
* SCC
* Melanoma
* Papillary hidradenoma
* Extramammary Paget's disease
* Vulvar intraepithelial neoplasia
* Bartholin gland carcinoma
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Villoglandular adenocarcinoma of the cervix
|
None
| 25,162 |
wikipedia
|
https://en.wikipedia.org/wiki/Villoglandular_adenocarcinoma_of_the_cervix
| 2021-01-18T19:02:39 |
{"wikidata": ["Q7931117"]}
|
## Clinical Features
Wellesley et al. (1991) described a mother and 2 children, a boy and a girl, with short stature, cataracts, and aberrant oral frenula. The mother was 150 cm tall (less than the 3rd centile) and had had cataracts removed in early adulthood. The boy had left ptosis with hypermetropia, and bilateral posterior polar cataracts were removed at the age of 3 years. His facial changes consisted of epicanthal folds. There were numerous aberrant frenula of the upper alveolar margin. He had a small umbilical hernia and had had bilateral inguinal herniorrhaphies. The girl had a cavernous hemangioma at the right corner of her mouth but at 19 months had not yet developed cataracts which occurred later in her brother.
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature HEAD & NECK Ears \- Posteriorly angulated ears \- Lobule creases Eyes \- Posterior polar cataract \- Ptosis \- Epicanthal folds \- Short palpebral fissures \- Upslanting palpebral fissures Nose \- Small nose \- Upturned nasal tip Mouth \- Numerous aberrant oral frenula SKIN, NAILS, & HAIR Hair \- Coarse blonde hair \- Curly hair ▲ 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
|
CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION
|
c1861835
| 25,163 |
omim
|
https://www.omim.org/entry/115645
| 2019-09-22T16:43:39 |
{"mesh": ["C536691"], "omim": ["115645"], "orphanet": ["1373"]}
|
This article is about a term used in alternative medicine. For medically-recognized chronic adrenal insufficiency, see Adrenal insufficiency and Addison's disease.
alternative diagnosis of adrenal gland exhaustion
This article is part of a series on
Alternative medicine
General information
* Alternative medicine
* Alternative veterinary medicine
* Quackery (Health fraud)
* History of alternative medicine
* Rise of modern medicine
* Pseudoscience
* Antiscience
* Skepticism
* Skeptical movement
* National Center for Complementary and Integrative Health
* Terminology of alternative medicine
* Therapeutic nihilism
Fringe medicine and science
* Acupressure
* Acupuncture
* Alkaline diet
* Anthroposophic medicine
* Apitherapy
* Applied kinesiology
* Aromatherapy
* Auriculotherapy
* Bates method
* Black salve
* Bodywork
* Bonesetter
* Bowen technique
* Breathwork
* Fake COVID-19 treatments
* Cancer treatments
* Charcoal cleanse
* Chiropractic
* Chiropractic treatment techniques
* Vertebral subluxation
* Christian Science
* Chromotherapy
* Colon cleansing
* Coffee enema
* Colorpuncture
* Colloidal silver
* Craniosacral therapy
* Crystal healing
* Cupping therapy
* Dental amalgam controversy
* Detoxification
* Foot detox
* Ear candling
* Energy medicine
* Esoteric energy
* Therapeutic touch
* Fabunan Antiviral Injection
* Facilitated communication
* Feldenkrais Method
* Functional medicine
* Hair analysis
* Herbal medicine
* Holistic dentistry
* Hologram bracelet
* Homeopathy
* Bach flower remedies
* Biological terrain assessment
* Hypnotherapy
* Iridology
* Ionized jewelry
* Jilly Juice
* Lightning Process
* Lymphotherapy
* Medical intuitive
* Mesmerism
* Magnet therapy
* Manual therapy
* Megavitamin therapy
* Mind–body interventions
* MMS
* Myofascial release
* NAET
* Naturopathy
* Oil pulling
* Orgone
* Orthomolecular medicine
* Orthopathy
* Osteomyology
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Adrenal fatigue or hypoadrenia is a pseudo-scientific term used by alternative medicine providers to suggest that the adrenal glands are exhausted and unable to produce adequate quantities of hormones, primarily cortisol, due to chronic stress or infections.[1] There is no scientific basis for the existence of adrenal fatigue, and the term should not be confused with a number of actual forms of adrenal dysfunction such as adrenal insufficiency or Addison's disease.[1][2]
The term "adrenal fatigue" was invented in 1998 by chiropractor James Wilson and applied to a collection of mostly non-specific symptoms.[1][3] There is no scientific evidence supporting the concept of adrenal fatigue and it is not recognized as a diagnosis by the scientific or medical communities.[1][2] Neither the condition nor the symptoms have any stable or recognized definition.[3] A systematic review found no evidence for the term adrenal fatigue, confirming the consensus among mainstream endocrinologists that it is a myth.[4]
Blood or salivary testing is sometimes offered but there is no evidence that adrenal fatigue exists or can be tested for.[1][3][5] The concept of adrenal fatigue has given rise to an industry of dietary supplements marketed to treat this condition. These supplements are largely unregulated in the U.S., are ineffective, costly, and in some cases may be dangerous.[3][5]
## See also[edit]
* List of topics characterized as pseudoscience
## References[edit]
1. ^ a b c d e Shah R, Greenberger PA (2012). "Unproved and controversial methods and theories in allergy-immunology". Allergy Asthma Proc. 33 Suppl 1 (3): S100–2. doi:10.2500/aap.2012.33.3562. PMID 22794702. Quote: "There is no scientific basis for the existence of this disorder and no conclusive method for diagnosis."
2. ^ a b "Adrenal Fatigue: Is It Real?". WebMD. Metcalf, Eric. Retrieved 2014-03-19.
3. ^ a b c d Gavura, Scott (October 28, 2010). "Fatigued by a Fake Disease". Science-Based Medicine. Retrieved March 12, 2015.
4. ^ Cadegiani, Flavio A.; Kater, Claudio E. (24 August 2016). "Adrenal fatigue does not exist: a systematic review". BMC Endocrine Disorders. 16 (1): 48. doi:10.1186/s12902-016-0128-4. ISSN 1472-6823. PMC 4997656. PMID 27557747.
5. ^ a b Ross, IL; Jones, J; Blockman, M (August 2018). "We are tired of 'adrenal fatigue'". South African Medical Journal. 108 (9): 724–25. doi:10.7196/SAMJ.2018.v108i9.13292. PMID 30182895.
## External links[edit]
Wikimedia Commons has media related to Adrenal fatigue.
* Adrenal Fatigue from the Endocrine Society
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*[v]: View this template
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*[AA]: Adrenergic agonist
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*[nM]: nanomolars
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*[DOR]: δ-opioid receptor
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*[ND]: No data
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*[TCAs]: Tricyclic antidepressants
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Adrenal fatigue
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wikipedia
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https://en.wikipedia.org/wiki/Adrenal_fatigue
| 2021-01-18T18:45:18 |
{"wikidata": ["Q4684712"]}
|
A number sign (#) is used with this entry because hereditary diffuse leukoencephalopathy with spheroids (HDLS) is caused by heterozygous mutation in the CSF1R gene (164770) on chromosome 5q32.
Description
Hereditary diffuse leukoencephalopathy with spheroids is an autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes (summary by Rademakers et al., 2012).
Clinical Features
Lanska et al. (1994) presented clinical and pathologic information on 2 large multigenerational families with a form of autosomal dominant adult-onset dementia termed progressive subcortical gliosis. Affected individuals presented in the fifth or sixth decade of life with personality change and degeneration of social ability which later developed into a profound dementia with mutism, dysphagia, and extrapyramidal signs. The presentation was similar to that of Pick disease. Autopsies were done on 7 affected individuals. These showed moderately severe atrophy with preferential involvement of the frontal and temporal lobes but without the knife edge pattern characteristic of Pick disease. The most striking microscopic finding was a marked fibrillary astrocytosis, particularly in the area of the short cortical association tracts (U fibers) at the junction of cortical lamina VI and the subcortical white matter, and in the subpial cerebral cortex (lamina I). There was also laminar spongiosis, particularly in laminae II and III similar to that observed in Pick disease and Alzheimer disease, but different from the pancortical spongiform change in Creutzfeldt-Jakob disease which is usually most prominent in deeper layers. Neuronal inclusions and amyloid deposits, which are pathologic hallmarks of Alzheimer disease and Pick disease, were uniformly absent. One of the families reported by Lanska et al. (1994) was found by Goedert et al. (1999) to have a mutation in the MAPT gene (157140.0006), thus confirming a diagnosis of MAPT-related frontotemporal dementia (FTD; 600274).
Knopman et al. (1996) reported 3 sisters who developed progressive frontotemporal dementia between 40 and 70 years of age. Two presented with depression, abnormal behavior, and mild memory difficulties, ultimately resulting in an inability to function. None had prominent motor dysfunction. Neuropathologic examination of 2 sisters who died showed atrophy of the frontal and temporal lobes as well as white matter degeneration affecting the subcortical white matter and deep white matter without neuronal loss. There was extensive demyelination, loss of white matter axons, and gliosis. Abundant lipofuscin granules in microglia, macrophages, and astrocytes were also noted. Neurofibrillary tangles and senile plaques were not found in either case. The clinical and pathologic findings were consistent with a diagnosis of orthochromatic leukodystrophy. Nicholson et al. (2013) reported another affected member of the family described by Knopman et al. (1996), a daughter of 1 of the affected sisters. This patient developed symptoms of frontotemporal dementia at age 51. Brain imaging showed frontal atrophy and white matter hyperintensities throughout the frontal lobes, which worsened over time. Reevaluation of the neuropathology from the deceased affected family members showed the presence of axonal spheroids in areas with early white matter changes, consistent with HDLS.
Van der Knaap et al. (2000) reported a father and daughter with adult-onset deterioration of frontal lobe function, spasticity, ataxia, and mild extrapyramidal signs. MRI showed cerebral atrophy and patchy white matter changes. Postmortem examination showed leukoencephalopathy with numerous neuroaxonal spheroids. The frontal and frontoparietal lobes were most affected.
Baba et al. (2006) reported a kindred in which 6 individuals had dementia, depression, and frontal lobe signs variably associated with parkinsonism, apraxia, and seizures. The mean age at onset was 54 years. Postmortem examination of the brains showed loss of myelinated fibers, bizarre astrocytosis, white matter gliosis, and axonal spheroids. Inheritance was autosomal dominant. Molecular analysis excluded mutations in the MAPT gene and in several genes involved in leukoencephalopathy with white matter disease (603896).
Swerdlow et al. (2009) reported a multigenerational family with frontotemporal dementia associated with subcortical gliosis inherited in an autosomal dominant pattern. Age at onset ranged from the forties to sixties in affected individuals. The phenotype was characterized mainly by progressive behavioral changes, disorientation, frontal release signs, and memory loss. Later symptoms and signs included dementia, mutism, and incontinence. Some individuals developed parkinsonism. Neuropathologic studies showed frontotemporal cortical atrophy, ventriculomegaly, neuronal loss, hypertrophic astrogliosis in the superficial and deep white matter, loss of axons, dystrophic axons, and axonal spheroids containing neurofilaments. Immunohistochemical studies did not identify tau, ubiquitin, or prion (PRNP; 176640) inclusions. Swerdlow et al. (2009) noted that the disorder shared some characteristics with leukoencephalopathy with neuroaxonal spheroids, as described by van der Knaap et al. (2000) and Baba et al. (2006).
Rademakers et al. (2012) reported 14 families with HDLS, including those reported previously by Swerdlow et al. (2009) and Baba et al. (2006). Clinical features of 24 affected individuals showed that the mean age at onset was 47.2 years (range, 18-78 years), with a mean age of death at 57.2 years (range, 40-84 years). One patient was described in detail. He developed mild depression and forgetfulness at age 50 years. Two years later, he had a flat affect, inappropriate behavior, poor concentration, executive dysfunction, restless legs syndrome, and insomnia. There was psychomotor slowing, and ideomotor and constructional apraxia. He had a slow, shuffling gait, postural instability, rigidity, and bradykinesia. Brain imaging showed hyperintense foci in both the frontal and parietal lobes, involving the periventricular, deep and subcortical white matter, but sparing the subcortical U fibers. At the end of his illness, he was mute and in a vegetative state; death occurred at age 55 years. Neuropathologic examination showed myelin loss, axonal spheroids containing neurofilaments, astrocytes, gliosis, and ballooned neurons. There was inter- and intrafamilial variability, with different ages at onset and death, as well as variable clinical features. Antemortem clinical diagnoses in mutation carriers included frontotemporal dementia (FTD; 600275), corticobasal syndrome, Alzheimer disease (AD; 104300), multiple sclerosis (MS; 126200), atypical cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL; 125310), and Parkinson disease (PD; 168600).
Konno et al. (2014) reported 7 Japanese patients with HDLS. The age at onset ranged from 36 to 55 years (mean of 44 years), and all patients presented with cognitive impairment followed by behavioral and personality changes. Later features included parkinsonism, including bradykinesia and gait disturbance, pyramidal signs, and seizures (2 patients). Six of the 7 patients progressed to being wheelchair-bound and having severe dementia with communication problems within 5 years after onset. Three patients had a family history of a similar disorder, consistent with autosomal dominant inheritance. Neuropathologic studies of several patients showed diffuse loss of myelin sheaths and axons in the white matter, as well as severe gliosis prominent in the frontal lobe. Scattered axonal spheroids that were immunoreactive for phosphorylated neurofilaments were present in the white matter lesions. In addition, there was abnormal appearance of activated microglia.
### Neuroradiologic Findings
Sundal et al. (2012) reviewed 20 brain MRI scans of 15 patients from 9 HDLS families, all of Caucasian descent with genetically confirmed disease, and assigned a severity score based on the lesion load. The mean age at onset was 44.3 years and the mean age at death was 53.2 years. All patients had a progressive clinical course, except 1, who had mild disease burden on initial MRI. At onset, 14 of 15 patients had localized white matter lesions (WML) with deep, subcortical, and periventricular involvement, whereas 1 more severely affected patient had generalized WML. All lesions were bilateral, but asymmetric, and predominantly in the frontal/parietal regions. There was cortical atrophy and involvement of the corpus callosum, but gray matter pathology and brainstem atrophy were absent; corticospinal tracts were involved late in the disease course. There was no enhancement, and there was minimal cerebellar pathology. Indicators of rapid disease progression included onset before age 45 years, female sex, WML extending beyond the frontal regions, an MRI severity score greater than 15 points, and deletion mutations. Sundal et al. (2012) concluded that recognition of the typical MRI patterns of HDLS and the use of an MRI severity score might help during the diagnostic evaluation to characterize the natural history and to monitor potential future treatments.
Konno et al. (2014) reported the neuroradiologic features of 7 Japanese patients with HDLS. Brain MRI showed T2-weighted bilateral hyperintensities in the white matter with frontal predominance, as well as thinning of the corpus callosum. The changes were progressive, and included brain atrophy. CT scans of 5 patients showed spotty calcifications in the affected white matter, which were confirmed by histology in 1 patient.
Inheritance
The transmission pattern of HDLS in the families reported by Rademakers et al. (2012) was consistent with autosomal dominant inheritance.
Molecular Genetics
By linkage analysis followed by whole-exome sequencing of the family with HDLS reported by Swerdlow et al. (2009), Rademakers et al. (2012) identified a heterozygous mutation in the CSF1R gene (164770.0001). Sequencing of this gene in 13 additional probands with HDLS identified a different heterozygous mutation in each (see, e.g., 164770.0002-164770.0005). The mutations cosegregated with the disorder in all families for which DNA from multiple affected individuals was available, including the family reported by Baba et al. (2006). In vitro functional expression studies of some of the missense mutations indicated that the mutant proteins did not show autophosphorylation, suggesting a defect in kinase activity that likely also affects downstream targets. The mutant proteins probably also act in a dominant-negative manner, since CSF1R assembles into homodimers. Overall, the findings indicated that a defect in microglial signaling and function resulting from CSF1R mutations can cause central nervous system degeneration.
In 7 Japanese probands with HDLS, Konno et al. (2014) identified 6 different heterozygous mutations in the CSF1R gene (see, e.g., 164770.0004; 164770.0006-164770.0008). Two of the mutations resulted in truncated proteins, indicating that haploinsufficiency is sufficient to cause the disorder. In vitro functional expression studies in HEK293 cells showed that none of the mutant CSF1R proteins, including those caused by missense mutations, were able to autophosphorylate. However, coexpression of the mutants with wildtype did not suppress wildtype autophosphorylation, indicating that the mutations do not act in a dominant-negative manner.
In affected members of a family (FTD368) with a clinicopathologic diagnosis of pigmented orthochromatic leukodystrophy (POLD), originally reported by Knopman et al. (1996), Nicholson et al. (2013) identified a heterozygous missense mutation in the CSF1R gene (R728H; 164770.0009). In vitro functional expression studies in HeLa cells showed that the mutation abrogated CSF1R autophosphorylation, which would inhibit downstream signaling. The findings indicated that POLD and HDLS are a single disease entity, and Nicholson et al. (2013) suggested the term 'adult-onset leukodystrophy with axonal spheroids and pigmented glia' (ALSP).
History
Khoubesserian et al. (1985) reported a 70-year-old man with dementia who had 2 brothers who had died at age 59 with dementia. Pick disease (172700) and Alzheimer disease (AD; 104300) were ruled out by cerebral biopsy and normal levels of neurotransmitters in the biopsy tissue and CSF. These and histologic changes suggested that this may be the disorder reported by Neumann (1949) and designated 'subcortical gliosis' (Neumann and Cohn, 1967). This was the first familial observation.
INHERITANCE \- Autosomal dominant NEUROLOGIC Central Nervous System \- Cognitive decline \- Memory loss \- Dementia \- Frontal lobe dementia \- Apraxia \- Rigidity \- Bradykinesia \- Postural instability \- Shuffling gait \- Mutism \- Spasticity \- Hyperreflexia \- Deep white matter lesions, particularly affecting the frontal and parietal lobes \- Myelin loss \- Neuronal loss \- Axonal spheroids \- Spheroids contain neurofilaments \- Astrocytes \- Gliosis \- Ballooned neurons \- Autofluorescent pigment in microglia and macrophages Behavioral Psychiatric Manifestations \- Depression \- Flat affect \- Executive dysfunction \- Behavioral changes MISCELLANEOUS \- Adult onset \- Variable presentation and evolution of symptoms \- Rapidly progressive \- Death within 6 years after onset MOLECULAR BASIS \- Caused by mutation in the colony-stimulating factor 1 receptor gene (CSF1R, 164770.0001 ) ▲ Close
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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, HEREDITARY DIFFUSE, WITH SPHEROIDS
|
c3711381
| 25,165 |
omim
|
https://www.omim.org/entry/221820
| 2019-09-22T16:28:52 |
{"doid": ["0080523"], "mesh": ["C580150"], "omim": ["221820"], "orphanet": ["313808"], "synonyms": ["Alternative titles", "LEUKOENCEPHALOPATHY, ADULT-ONSET, WITH AXONAL SPHEROIDS AND PIGMENTED GLIA", "LEUKOENCEPHALOPATHY WITH NEUROAXONAL SPHEROIDS, AUTOSOMAL DOMINANT", "GLIOSIS, FAMILIAL PROGRESSIVE SUBCORTICAL", "DEMENTIA, FAMILIAL, NEUMANN TYPE", "SUBCORTICAL GLIOSIS OF NEUMANN"], "genereviews": ["NBK100239"]}
|
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Cycloplegia" – news · newspapers · books · scholar · JSTOR (November 2014)
Cycloplegia
Dilated pupil (mydriasis) caused by cyclopentolate instilled into both eyes
SpecialtyOphthalmology
Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation.[1] Because of the paralysis of the ciliary muscle, the curvature of the lens can no longer be adjusted to focus on nearby objects. This results in similar problems as those caused by presbyopia, in which the lens has lost elasticity and can also no longer focus on close-by objects. Cycloplegia with accompanying mydriasis (dilation of pupil) is usually due to topical application of muscarinic antagonists such as atropine and cyclopentolate.
Belladonna alkaloids are used for testing the error of refraction and examination of eye.
## Contents
* 1 Management
* 2 See also
* 3 References
* 4 External links
## Management[edit]
Cycloplegic drugs are generally muscarinic receptor blockers. These include atropine, cyclopentolate, homatropine, scopolamine and tropicamide. They are indicated for use in cycloplegic refraction (to paralyze the ciliary muscle in order to determine the true refractive error of the eye) and the treatment of uveitis. All cycloplegics are also mydriatic (pupil dilating) agents and are used as such during eye examination to better visualize the retina.
When cycloplegic drugs are used as a mydriatic to dilate the pupil, the pupil in the normal eye regains its function when the drugs are metabolized or carried away. Some cycloplegic drugs can cause dilation of the pupil for several days. Usually the ones used by ophthalmologists or optometrists wear off in hours, but when the patient leaves the office strong sunglasses are provided for comfort.
## See also[edit]
* Adie syndrome
* Anisocoria
* Marcus Gunn pupil
* Miosis
* Parinaud's syndrome
* Syphilis
## References[edit]
1. ^ "cycloplegia" at Dorland's Medical Dictionary
## External links[edit]
Classification
D
* ICD-10: H52.5
* ICD-9-CM: 367.51
* DiseasesDB: 17379
* v
* t
* e
* Diseases of the human eye
Adnexa
Eyelid
Inflammation
* Stye
* Chalazion
* Blepharitis
* Entropion
* Ectropion
* Lagophthalmos
* Blepharochalasis
* Ptosis
* Blepharophimosis
* Xanthelasma
* Ankyloblepharon
Eyelash
* Trichiasis
* Madarosis
Lacrimal apparatus
* Dacryoadenitis
* Epiphora
* Dacryocystitis
* Xerophthalmia
Orbit
* Exophthalmos
* Enophthalmos
* Orbital cellulitis
* Orbital lymphoma
* Periorbital cellulitis
Conjunctiva
* Conjunctivitis
* allergic
* Pterygium
* Pseudopterygium
* Pinguecula
* Subconjunctival hemorrhage
Globe
Fibrous tunic
Sclera
* Scleritis
* Episcleritis
Cornea
* Keratitis
* herpetic
* acanthamoebic
* fungal
* Exposure
* Photokeratitis
* Corneal ulcer
* Thygeson's superficial punctate keratopathy
* Corneal dystrophy
* Fuchs'
* Meesmann
* Corneal ectasia
* Keratoconus
* Pellucid marginal degeneration
* Keratoglobus
* Terrien's marginal degeneration
* Post-LASIK ectasia
* Keratoconjunctivitis
* sicca
* Corneal opacity
* Corneal neovascularization
* Kayser–Fleischer ring
* Haab's striae
* Arcus senilis
* Band keratopathy
Vascular tunic
* Iris
* Ciliary body
* Uveitis
* Intermediate uveitis
* Hyphema
* Rubeosis iridis
* Persistent pupillary membrane
* Iridodialysis
* Synechia
Choroid
* Choroideremia
* Choroiditis
* Chorioretinitis
Lens
* Cataract
* Congenital cataract
* Childhood cataract
* Aphakia
* Ectopia lentis
Retina
* Retinitis
* Chorioretinitis
* Cytomegalovirus retinitis
* Retinal detachment
* Retinoschisis
* Ocular ischemic syndrome / Central retinal vein occlusion
* Central retinal artery occlusion
* Branch retinal artery occlusion
* Retinopathy
* diabetic
* hypertensive
* Purtscher's
* of prematurity
* Bietti's crystalline dystrophy
* Coats' disease
* Sickle cell
* Macular degeneration
* Retinitis pigmentosa
* Retinal haemorrhage
* Central serous retinopathy
* Macular edema
* Epiretinal membrane (Macular pucker)
* Vitelliform macular dystrophy
* Leber's congenital amaurosis
* Birdshot chorioretinopathy
Other
* Glaucoma / Ocular hypertension / Primary juvenile glaucoma
* Floater
* Leber's hereditary optic neuropathy
* Red eye
* Globe rupture
* Keratomycosis
* Phthisis bulbi
* Persistent fetal vasculature / Persistent hyperplastic primary vitreous
* Persistent tunica vasculosa lentis
* Familial exudative vitreoretinopathy
Pathways
Optic nerve
Optic disc
* Optic neuritis
* optic papillitis
* Papilledema
* Foster Kennedy syndrome
* Optic atrophy
* Optic disc drusen
Optic neuropathy
* Ischemic
* anterior (AION)
* posterior (PION)
* Kjer's
* Leber's hereditary
* Toxic and nutritional
Strabismus
Extraocular muscles
Binocular vision
Accommodation
Paralytic strabismus
* Ophthalmoparesis
* Chronic progressive external ophthalmoplegia
* Kearns–Sayre syndrome
palsies
* Oculomotor (III)
* Fourth-nerve (IV)
* Sixth-nerve (VI)
Other strabismus
* Esotropia / Exotropia
* Hypertropia
* Heterophoria
* Esophoria
* Exophoria
* Cyclotropia
* Brown's syndrome
* Duane syndrome
Other binocular
* Conjugate gaze palsy
* Convergence insufficiency
* Internuclear ophthalmoplegia
* One and a half syndrome
Refraction
* Refractive error
* Hyperopia
* Myopia
* Astigmatism
* Anisometropia / Aniseikonia
* Presbyopia
Vision disorders
Blindness
* Amblyopia
* Leber's congenital amaurosis
* Diplopia
* Scotoma
* Color blindness
* Achromatopsia
* Dichromacy
* Monochromacy
* Nyctalopia
* Oguchi disease
* Blindness / Vision loss / Visual impairment
Anopsia
* Hemianopsia
* binasal
* bitemporal
* homonymous
* Quadrantanopia
subjective
* Asthenopia
* Hemeralopia
* Photophobia
* Scintillating scotoma
Pupil
* Anisocoria
* Argyll Robertson pupil
* Marcus Gunn pupil
* Adie syndrome
* Miosis
* Mydriasis
* Cycloplegia
* Parinaud's syndrome
Other
* Nystagmus
* Childhood blindness
Infections
* Trachoma
* Onchocerciasis
* v
* t
* e
Ophthalmologicals: mydriasis and cycloplegia (S01F)
Anticholinergics/antimuscarinics
* Atropine
* Scopolamine
* Methylscopolamine
* Cyclopentolate
* Homatropine
* Tropicamide
Sympathomimetics
* Phenylephrine (+ketorolac)
* Ephedrine
* Ibopamine
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Cycloplegia
|
c0235238
| 25,166 |
wikipedia
|
https://en.wikipedia.org/wiki/Cycloplegia
| 2021-01-18T19:10:26 |
{"umls": ["C0235238"], "wikidata": ["Q1147596"]}
|
## Clinical Features
Tentolouris et al. (1993) described 2 sisters, aged 53 and 61 years, and the 31-year-old son of the youngest sister who had linear calcification of the ascending aorta and severe calcific mixed (stenotic and regurgitant) aortic valve disease associated with increased levels of globulins, lambda-chain gammopathy, an increased T4/T8 lymphocyte ratio, and other immunologic abnormalities. A 38-year-old daughter of the older sister had a history of severe aortic valve calcification with stenosis, for which she underwent open heart surgery. The surgeon described a peculiar severe nodular calcification that was 'scooped out' from the aortic ring; the aortic valve was thought to be normally formed. The findings were thought to resemble particularly those reported by Goldbaum et al. (1986) who described a young woman with nodular aggregates of amorphous calcific material on the aortic valve and referred to a possible familial basis. Similar idiopathic calcification of the ascending aorta and aortic valve was described in a young woman by McLoughlin et al. (1974) and by Rose and Forman (1976). The first case reported by McLoughlin et al. (1974) was studied also by Theman et al. (1979), who reported on the pathologic findings: extensive medial necrosis with secondary calcification of elastic tissue without evidence of previous inflammation or other destructive or reparative processes. Aortic calcification is an important feature of the Singleton-Merten syndrome (182250), which is characterized also by dental dysplasia and osteoporosis and other bone changes. Although syphilitic aortitis is characterized by 'bark-like' linear calcification of the ascending aorta caused by destruction of the media and resulting in dilatation and aortic valve regurgitation without stenosis, these patients had no clinical or serologic evidence of syphilis and had no risk factors or signs pointing to precocious atherosclerosis.
Cardiac \- Nodular calcific aortic valve disease \- Aortic stenosis \- Aortic regurgitation Immunology \- Increased levels of globulins \- Lambda-chain gammopathy \- Increased T4/T8 lymphocyte ratio Lab \- Extensive aortic medial necrosis with secondary calcification of elastic tissue without evidence of previous inflammation or other destructive or reparative processes 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
|
CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL
|
c1861974
| 25,167 |
omim
|
https://www.omim.org/entry/114065
| 2019-09-22T16:43:53 |
{"mesh": ["C566182"], "omim": ["114065"]}
|
A number sign (#) is used with this entry because of evidence that autosomal recessive agammaglobulinemia-7 (AGM7) is caused by homozygous mutation in the PIK3R1 gene (171833) on chromosome 5q13. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal agammaglobulinemia, see AGM1 (601495).
Clinical Features
De la Morena et al. (1995) reported a 6-month-old Hispanic girl of Chinese and Peruvian Indian ancestry who presented at age 3.5 months with interstitial pneumonia and gastroenteritis. Laboratory studies showed agammaglobulinemia, neutropenia, and lack of mature B cells in the peripheral blood and bone marrow. Lymph nodes showed lack of B cells, plasma cells, and germinal center formation. T cells and T-cell function were normal. Presence of CD10+ cells but absence of CD19+ cells and a 10-fold decrease of mature V-D-J-C-mu transcripts suggested a blockage at an earlier stage of B-cell development than that observed in the X-linked form of agammaglobulinemia (300755); genetic analysis excluded a defect in the BTK gene (300300).
Conley et al. (2012) provided follow-up of the patient reported by de la Morena et al. (1995), who was 19 years old and showed a severe defect in very early B-cell development. As a teenager, she developed erythema nodosum, juvenile idiopathic arthritis, and recurrent Campylobacter bacteremia and inflammatory bowel disease, suggesting disordered cytokine production. The family history was positive for 2 older brothers and 2 maternal uncles who died of acute infections between 9 and 18 months of age.
Inheritance
The transmission pattern of AGM7 in the family reported by Conley et al. (2012) was consistent with autosomal recessive inheritance.
Molecular Genetics
In a patient with agammaglobulinemia-7, Conley et al. (2012) identified a homozygous truncating variant in the PIK3R1 (W298X; 171833.0001). The mutation, which was identified by exome sequencing, segregated with the disorder and was not found in 1,000 in-house control alleles. Screening of the PIK3R1 gene in 55 additional patients with defects in B-cell development did not identify any other mutations.
INHERITANCE \- Autosomal recessive RESPIRATORY \- Respiratory infections, recurrent ABDOMEN Gastrointestinal \- Gastroenteritis, recurrent IMMUNOLOGY \- Agammaglobulinemia \- Recurrent infections \- Neutropenia \- Arrest of B cell development at very early stage \- Decreased NK cells \- Normal T cells MISCELLANEOUS \- Onset in infancy \- Early death may occur due to infection \- One consanguineous family has been reported (last curated May 2013) MOLECULAR BASIS \- Caused by mutation in the phosphatidylinositol 3-kinase, regulatory subunit 1 gene (PIK3R1, 171833.0001 ) ▲ 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
|
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
|
c1832241
| 25,168 |
omim
|
https://www.omim.org/entry/615214
| 2019-09-22T15:52:54 |
{"doid": ["2583"], "mesh": ["C538056"], "omim": ["615214"], "orphanet": ["33110", "229717"], "synonyms": ["Alternative titles", "AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT"]}
|
A number sign (#) is used with this entry because of evidence that neurodevelopmental disorder with cerebellar hypoplasia and spasticity (NEDCHS) is caused by compound heterozygous mutation in the INTS8 gene (611351) on chromosome 8q22. One such family has been reported.
Clinical Features
Oegema et al. (2017) reported 3 adult sibs with a similar neurodevelopmental disorder. All had global developmental delay with severely impaired intellectual development, no language, and inability to walk due to spastic paraplegia. Additional neurologic abnormalities included seizures and optic atrophy. The patients also had short stature, irregularly implanted and overlapping toes, borderline microcephaly (-2 to -3 SD), and dysmorphic facial features, including hypertelorism and a prominent glabella. Brain imaging showed cerebellar hypoplasia, reduced volume of the pons and brainstem, and periventricular nodular heterotopia.
Inheritance
The transmission pattern of NEDCHS in the family reported by Oegema et al. (2017) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 3 adult sibs with NEDCHS, Oegema et al. (2017) identified compound heterozygous mutations in the INTS8 gene (611351.0001 and 611351.0002). The mutations, which were found by whole-genome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Neither mutation was found in the ExAC or gnomAD databases. Analysis of patient cells, reported transcript structures, and expression studies in HEK293 or HeLa cells were consistent with a loss-of-function effect and suggested that the mutations impaired the ability of INTS8 to associate with other proteins in the Integrator complex. Global transcriptome analysis of patient cells showed changes in gene regulation and altered splicing patterns. Sequencing of the INTS8 gene in 25 additional patients with periventricular nodular heterotopia and 266 other patients with brain malformations did not identify any patients with biallelic mutations, suggesting that it is a rare cause of the phenotype.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature HEAD & NECK Head \- Microcephaly, borderline (-2 to -3 SD) Face \- Dysmorphic facial features \- Prominent glabella Eyes \- Optic atrophy \- Hypertelorism SKELETAL Feet \- Irregularly implanted toes \- Overlapping toes NEUROLOGIC Central Nervous System \- Global developmental delay \- Impaired intellectual development, severe \- Absent language \- Inability to walk \- Spastic paraplegia \- Seizures \- Cerebellar hypoplasia \- Pontine hypoplasia \- Brainstem hypoplasia \- Periventricular nodular heterotopia MISCELLANEOUS \- Three sibs have been reported (last curated September 2019) MOLECULAR BASIS \- Caused by mutation in the integrator complex subunit 8 gene (INTS8, 611351.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
|
None
| 25,169 |
omim
|
https://www.omim.org/entry/618572
| 2019-09-22T15:41:23 |
{"omim": ["618572"]}
|
Oculomotor nerve palsy
Other namesThird nerve palsy
Eye nerves diagram
SpecialtyOphthalmology, neurology
Oculomotor nerve palsy is an eye condition resulting from damage to the third cranial nerve or a branch thereof. As the name suggests, the oculomotor nerve supplies the majority of the muscles controlling eye movements. Thus, damage to this nerve will result in the affected individual being unable to move their eye normally. In addition, the nerve also supplies the upper eyelid muscle (levator palpebrae superioris) and It is accompanied by parasympathetic fibers innervating the muscles responsible for pupil constriction (sphincter pupillae) . The limitations of eye movements resulting from the condition are generally so severe that the affected individual is unable to maintain normal alignment of their eyes when looking straight ahead, leading to strabismus and, as a consequence, double vision (diplopia).
It is also known as "oculomotor neuropathy".[1]
## Contents
* 1 Presentation
* 2 Cause
* 2.1 Congenital oculomotor palsy
* 2.2 Acquired oculomotor palsy
* 3 Mechanism
* 4 References
* 5 External links
## Presentation[edit]
A complete oculomotor nerve palsy will result in a characteristic down and out position in the affected eye. The eye will be displaced outward "exotropia" and displaced downward "hypotropia"; outward because the lateral rectus (innervated by the sixth cranial nerve) maintains muscle tone in comparison to the paralyzed medial rectus. The eye will be displaced downward, because the superior oblique (innervated by the fourth cranial or trochlear nerve), is unantagonized by the paralyzed superior rectus, inferior rectus and inferior oblique. The affected individual will also have a ptosis, or drooping of the eyelid, and mydriasis (pupil dilation).
## Cause[edit]
Oculomotor palsy can arise as a result of a number of different conditions. Non traumatic pupil-sparing oculomotor nerve palsies are often referred to as a 'medical third' with those affecting the pupil being known as a 'surgical third'.
### Congenital oculomotor palsy[edit]
The origins of the vast majority of congenital oculomotor palsies are unknown, or idiopathic to use the medical term. There is some evidence of a familial tendency to the condition, particularly to a partial palsy involving the superior division of the nerve with an autosomal recessive inheritance. The condition can also result from aplasia or hypoplasia of one or more of the muscles supplied by the oculomotor nerve. It can also occur as a consequence of severe birth trauma.
### Acquired oculomotor palsy[edit]
1. Vascular disorders such as diabetes, heart disease, atherosclerosis and aneurysm, particularly of the posterior communicating artery
2. Space occupying lesions or tumours, both malignant and non-malignant
3. Inflammation and infection
4. Trauma
5. Demyelinating disease (multiple sclerosis)
6. Autoimmune disorders such as myasthenia gravis
7. Post-operatively as a complication of neurosurgery
8. Cavernous sinus thrombosis
Ischemic stroke selectively affects somatic fibers over parasympathetic fibers, while traumatic stroke affects both types more equally. Ischemic stroke affects vasoneurium which starts to supply the nerve from outside to inside. As the somatic fibers are located inner part of the nerve, these fibres are affected more in the setting of ischemia. A similar mechanism is also accurate for diabetes. Therefore, while almost all forms ('medical third' and 'surgical third') cause ptosis and impaired movement of the eye, pupillary abnormalities are more commonly associated with trauma and the 'surgical third' than with ischemia, ie the 'medical third'. To further clarify, classically a posterior communicating artery aneurysm will cause compression of the entire third nerve and so prevent ANY nerve signal conduction thus affecting the somatic system and also the autonomic. The compression of the external autonomic fibres renders the pupil non reactive and thus leads to the surgical third nerve palsy.
Oculomotor palsy can be of acute onset over hours with symptoms of headache when associated with diabetes mellitus. Diabetic neuropathy of the oculomotor nerve in a majority of cases does not affect the pupil.[2] The sparing of the pupil is thought to be associated with the microfasciculation of the fibers which control the pupillomotor function located on the outmost aspect of the occulomotor nerve fibres; these fibres are spared because they are outermost and so less prone to ischaemic damage than the innermost fibres.[3]
## Mechanism[edit]
The branched structure of the oculomotor nerve means that damage sustained at different points along its pathway, or damage caused in different ways (compression versus loss of blood supply vs neuropathy, for example), will result in different muscle groups or, indeed, different individual muscles being affected, thus producing different presentation patterns.
Compressive oculomotor nerve damage could result in compression of the parasympathetic fibers before any disruption of the motor fibers occurs, since the parasympathetic fibers run on the outside of the nerve. Therefore, one could have mydriasis (a "blown" pupil) as a result of parasympathetic fiber compression before lid ptosis and the "down and out" position are seen.
## References[edit]
1. ^ Mohammad, J; Kefah, AH; Abdel, Aziz H (2008). "Oculomotor neuropathy following tetanus toxoid injection". Neurol India. 56 (2): 214–6. doi:10.4103/0028-3886.42013. PMID 18688160.
2. ^ Goldstein, JE (1960). "Diabetic ophthalmopegia with special reference to the pupil". Arch Ophthalmol. 64: 592. doi:10.1001/archopht.1960.01840010594018.
3. ^ Dyck; Thomas (1999). Diabetic Neuropathy. pp. 458–459.
## External links[edit]
Classification
D
* ICD-10: H49.0
* ICD-9-CM: 378.52
* MeSH: D015840
* DiseasesDB: 2861
External resources
* eMedicine: oph/183
* v
* t
* e
Cranial nerve disease
Olfactory
*
Optic
*
Oculomotor
* Oculomotor nerve palsy
Trochlear
* Trochlear nerve palsy
Trigeminal
* Trigeminal neuralgia
Abducens
* Abducens nerve palsy
Facial
* Central facial palsy
* Facial nerve paralysis
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Vestibulocochlear
*
Glossopharyngeal
*
Vagus
*
Accessory
* Accessory nerve disorder
Hypoglossal
*
Combined syndromes
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* v
* t
* e
* Diseases of the human eye
Adnexa
Eyelid
Inflammation
* Stye
* Chalazion
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Other
* Glaucoma / Ocular hypertension / Primary juvenile glaucoma
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Pathways
Optic nerve
Optic disc
* Optic neuritis
* optic papillitis
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* Ischemic
* anterior (AION)
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Strabismus
Extraocular muscles
Binocular vision
Accommodation
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* Kearns–Sayre syndrome
palsies
* Oculomotor (III)
* Fourth-nerve (IV)
* Sixth-nerve (VI)
Other strabismus
* Esotropia / Exotropia
* Hypertropia
* Heterophoria
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* Brown's syndrome
* Duane syndrome
Other binocular
* Conjugate gaze palsy
* Convergence insufficiency
* Internuclear ophthalmoplegia
* One and a half syndrome
Refraction
* Refractive error
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Vision disorders
Blindness
* Amblyopia
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* Blindness / Vision loss / Visual impairment
Anopsia
* Hemianopsia
* binasal
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subjective
* Asthenopia
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Pupil
* Anisocoria
* Argyll Robertson pupil
* Marcus Gunn pupil
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* Miosis
* Mydriasis
* Cycloplegia
* Parinaud's syndrome
Other
* Nystagmus
* Childhood blindness
Infections
* Trachoma
* Onchocerciasis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Oculomotor nerve palsy
|
c0028866
| 25,170 |
wikipedia
|
https://en.wikipedia.org/wiki/Oculomotor_nerve_palsy
| 2021-01-18T18:41:37 |
{"mesh": ["D015840"], "umls": ["C0028866"], "icd-9": ["378.52"], "wikidata": ["Q1670952"]}
|
A number sign (#) is used with this entry because Chudley-McCullough syndrome (CMCS) is caused by homozygous or compound heterozygous mutation in the GPSM2 gene (609245) on chromosome 1p13.
Description
Chudley-McCullough syndrome is an autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal (summary by Alrashdi et al., 2011).
Clinical Features
Chudley et al. (1997) reported a Canadian Mennonite family in which a brother and sister had hydrocephalus due to obstruction at the foramen of Monro and profound bilateral sensorineural deafness. The parents were second cousins. Autosomal recessive inheritance was proposed on the basis of consanguinity, affected sibs of both sexes, and no evidence of intrauterine infections or other adverse perinatal events.
Hendriks et al. (1999) reported 2 sisters with congenital sensorineural hearing loss, partial agenesis of the corpus callosum, arachnoid cysts, and hydrocephalus. Both girls had normal psychomotor development and absence of any distinctive physical features. The parents had normal hearing and no abnormalities on brain MRI. They were nonconsanguineous but from the same small isolated village. The authors suggested that this combination probably represents a new autosomal recessive condition; however, the overlap with disorder in the families reported by Chudley et al. (1997) suggests otherwise.
Lemire and Stoeber (2000) presented 2 sisters of Mennonite descent with hydrocephalus and profound bilateral sensorineural deafness. The parents were nonconsanguineous. One sister had hydrocephalus due to obstruction of the foramen of Monro. This sister also had a full mutation in the FMR1 (309550) gene, presumed to be an incidental finding. The other sister had no evidence of a foramen of Monro obstruction but had other brain abnormalities, including callosal dysgenesis, gray matter heterotopia, cortical dysplasia, and cerebellar dysgenesis. The authors suggested the eponym Chudley-McCullough syndrome for this condition. They proposed that neuroimaging of the brain be considered in all individuals with profound sensorineural hearing loss, especially those of Mennonite background.
Welch et al. (2003) described a family in which 2 brothers and a sister had Chudley-McCullough syndrome. Each had profound sensorineural deafness that was either congenital or rapidly progressive in infancy, together with asymmetric dilatation of the lateral ventricle secondary to obstruction of the foramen of Monro. Other brain abnormalities included arachnoid cyst, partial agenesis of the corpus callosum, and abnormalities in the migration of cerebellar cells. Welch et al. (2003) recommended an audiologic assessment of all children with hydrocephalus, especially those with obstruction of the foramen of Monro.
Ostergaard et al. (2004) reported 2 Pakistani brothers, born of consanguineous parents, with Chudley-McCullough syndrome. They had partial agenesis of the corpus callosum, colpocephaly, dilatation of the lateral ventricles with macrocephaly, areas of cortical dysplasia, and sensorineural deafness. The older sib had mild mental retardation, whereas the younger sib was developmentally normal. A review of the literature showed that 6 reported patients had sensorineural hearing loss and colpocephaly. Mental retardation and facial dysmorphism were variable. Colpocephaly is characterized by enlargement of the occipital horns of the lateral ventricles with normal frontal horns, which may result from agenesis of the posterior corpus callosum. Ostergaard et al. (2004) concluded that the basic developmental defect in Chudley-McCullough syndrome is agenesis of the corpus callosum, not obstruction of the foramen of Monro.
Matteucci et al. (2006) reported 2 Italian sisters, born of nonconsanguineous parents, who had profound bilateral sensorineural hearing impairment, macrocephaly, minor dysmorphisms, and borderline psychomotor developmental delay, which the authors believed was related to the hearing defect. Brain MRI revealed all the anomalies variably described in previous reports, including hydrocephalus, partial agenesis of the corpus callosum, interhemispheric cyst, and cerebral and cerebellar cortex dysplasia. Matteucci et al. (2006) proposed that asymmetric enlargement of the ventricles and agenesis of the splenium, together with macrocephaly and deafness, be considered hallmarks of the syndrome.
Alrashdi et al. (2011) reported a 9-year-old girl, born of consanguineous Lebanese parents, with severe to profound sensorineural hearing loss since early infancy. Brain MRI showed hypoplasia of the corpus callosum, evidence of polymicrogyria in the frontal parasagittal region, foci of subcortical heterotopic gray matter, and hypoplasia of the inferior cerebellar vermis associated with enlargement of the cisterna magna. There were no apparent structural abnormalities of the inner ear structures or cranial nerve VIII. The patient did not have hydrocephalus or obstruction of the foramen of Monro, and she had normal psychomotor development.
Shahin et al. (2010) and Walsh et al. (2010) reported a large consanguineous Palestinian kindred in which 7 individuals had severe bilateral prelingual sensorineural deafness. Vision and vestibular function were normal. Yariz et al. (2012) reported a large consanguineous Turkish family in which 3 children presented with congenital severe to profound sensorineural hearing loss and no other abnormalities. The disorder was designated DFNB82. By brain imaging, Doherty et al. (2012) found that 1 of the patients from the Palestinian family described by Walsh et al. (2010) and all 3 Turkish patients reported by Yariz et al. (2012) had brain abnormalities consistent with a diagnosis of CMCS. All 4 patients had a short and thin corpus callosum, evidence of heterotopia and polymicrogyria, and arachnoid cysts; 3 had cerebellar dysplasia. However, none had ventriculomegaly.
Doherty et al. (2012) reported 12 patients from 8 families with Chudley-McCullough syndrome. Five of the families were Mennonite. All had severe to profound hearing loss and characteristic brain imaging findings, including ventriculomegaly, posterior agenesis of the corpus callosum, frontal polymicrogyria, frontal heterotopia, cerebellar dysplasia, and arachnoid cysts. Two patients had well-controlled seizures and 1 had mild to moderate intellectual disability.
Inheritance
The Chudley-McCullough syndrome is an autosomal recessive disorder (Chudley et al., 1997; Matteucci et al., 2006).
Mapping
In a consanguineous Palestinian family (family CG), originally thought to have nonsyndromic autosomal recessive deafness (DFNB82), Shahin et al. (2010) found linkage to a 3.1-Mb region on chromosome 1p13.3 (lod score of 5.16) between markers rs17542571 and rs1936942. The region overlapped the DFNB32 locus (608653) by 833 kb. Sequencing analysis excluded mutations in 2 candidate genes: VAV3 (605541) and SLC25A24 (608744).
Molecular Genetics
In affected members of a consanguineous Palestinian family with profound hearing loss, originally reported by Shahin et al. (2010), Walsh et al. (2010) identified a homozygous mutation in the GPSM2 gene (R127X; 609245.0001). All of the parents were unaffected and heterozygous for the mutation. By homozygosity mapping followed by candidate gene analysis, Yariz et al. (2012) identified a homozygous truncating mutation in the GPSM2 gene (Q562X; 609245.0002) in affected members of a consanguineous Turkish family with congenital hearing loss. All of the parents were unaffected and heterozygous for the mutation. Four patients originally reported to have nonsyndromic deafness by Walsh et al. (2010) and Yariz et al. (2012) were found by Doherty et al. (2012) to have neuroimaging abnormalities consistent with a diagnosis of Chudley-McCullough syndrome.
By homozygosity mapping and whole-exome sequencing of patients with Chudley-McCullough syndrome, Doherty et al. (2012) identified homozygous or compound heterozygous mutations in the GPSM2 gene (609245.0003-609245.0006). There were no apparent genotype/phenotype correlations. Doherty et al. (2012) postulated that the disorder results from asymmetric cell divisions in the brain during development.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Hydrocephalus (variable) Ears \- Hearing loss, sensorineural, severe-to-profound NEUROLOGIC Central Nervous System \- Hydrocephalus (variable) \- Ventriculomegaly (variable) \- Normal psychomotor development in most \- Intellectual disability, mild (uncommon) \- Seizures (uncommon) \- Brain MRI shows hypoplasia of the corpus callosum \- Partial agenesis of the corpus callosum \- Dysplastic corpus callosum \- Cerebellar hypoplasia due to enlarged foramen magnum \- Focal cerebellar dysplasia \- Obstruction of the foramen of Monro (variable) \- Subcortical nodular gray matter heterotopia \- Polymicrogyria \- Arachnoid cysts MISCELLANEOUS \- Hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years MOLECULAR BASIS \- Caused by mutation in the G protein signaling modulator 2 gene (GPSM2, 609245.0001 ) ▲ 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
|
CHUDLEY-MCCULLOUGH SYNDROME
|
c1858695
| 25,171 |
omim
|
https://www.omim.org/entry/604213
| 2019-09-22T16:12:30 |
{"mesh": ["C535459"], "omim": ["604213"], "orphanet": ["314597"], "synonyms": ["Alternative titles", "DEAFNESS, SENSORINEURAL, WITH PARTIAL AGENESIS OF THE CORPUS CALLOSUM AND ARACHNOID CYSTS", "DEAFNESS, AUTOSOMAL RECESSIVE 82, FORMERLY"]}
|
Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).
## Epidemiology
Prevalence is estimated at 1 in 10,000 and annual incidence is estimated at around 1 in 200,000.
## Clinical description
DFSP can present at any age, including infancy and childhood, but usually presents in the 2nd to 5th decade of life. Between 85 and 90% of tumors are low grade lesions, with the remainder classified as the high grade fibrosarcomatous (FS) type. The lesions typically present as an indurated pink or violet-red plaque or nodular mass on the trunk, proximal extremities, or head and neck region. Growth tends to be slow with local infiltration into deeper tissues and a propensity for local recurrence after excision. However, metastases are rare. Occurrence is sporadic.
## Etiology
DFSP is most likely fibroblastic in origin: over 90% of cases are associated with dysregulated platelet-derived growth factor (PDGF) production resulting from chromosomal translocation or a supernumerary ring chromosome derived from t(17;22). The translocation breakpoint most often involves the second exon of the PDGFB gene on chromosome 22 (22q13.1), with fusion to the collagen, type I, alpha 1 gene (COL1A1) on chromosome 17 (17q21.33). This chromosomal translocation results in the upregulation of the PDGFB gene in the form of a fused proto-oncogene COL1A1/PDGFB.
## Diagnostic methods
Diagnosis may be suspected on the basis of histological findings on biopsy samples showing features of a well-differentiated fibroblastic tumor with the characteristic microscopic appearance of interwoven fascicles of cells forming a swirling pattern and positive staining for CD34. Cytogenetic analysis identifying the characteristic t(17;22) chromosomal translocation or interphase FISH using split-apart probes for chromosome 22 can be used to confirm the diagnosis. Imaging modalities suchas MRI or CT scans are most useful for assessing the depth of tumor invasion or identifying metastatic sites.
## Differential diagnosis
The differential diagnosis should include fibrosarcoma (see this term), dermatofibroma, neurofibroma, and other soft tissue tumors.
## Management and treatment
Complete surgical resection with clear margins is the standard treatment for primary and recurrent DFSP. Mohs microscopic surgery (MMS) using sequential horizontal sectioning with immediate microscopic examination may reduce the amount of tissue resected and is associated with a low risk of recurrence. Post-operative radiotherapy can be used when resection is incomplete. Imatinib, an oral PDGF receptor tyrosine kinase inhibitor may be beneficial for patients with an unresectable, locally advanced lesion or with metastatic disease. Cytotoxic therapy is of little proven value.
## Prognosis
The prognosis is excellent for low grade lesions but a poorer prognosis is associated with the FS variant due to a higher risk of recurrence and metastases. Overall, the rate of mortality is low (< 3% at 10 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
|
Dermatofibrosarcoma protuberans
|
c0392784
| 25,172 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=31112
| 2021-01-23T17:49:53 |
{"gard": ["9569"], "mesh": ["C538219"], "omim": ["607907"], "umls": ["C0392784"], "icd-10": ["C49.9"], "synonyms": ["DFSP"]}
|
Chronic vesiculobullous hand eczema
SpecialtyDermatology
Chronic vesiculobullous hand eczema presents with lesions that may be hyperkeratotic, scaling, and fissures, and the "dyshidrosiform" pattern may be recognized only during exacerbations.[1]:79 Females outnumber males by 3:1, and there is a tendency for the pruritic 1- to 2-mm vesicles to be most pronounced at the sides of the fingers.[1]:79
## See also[edit]
* Skin lesion
## References[edit]
1. ^ a b James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
* v
* t
* e
Dermatitis and eczema
Atopic dermatitis
* Besnier's prurigo
Seborrheic dermatitis
* Pityriasis simplex capillitii
* Cradle cap
Contact dermatitis
(allergic, irritant)
* plants: Urushiol-induced contact dermatitis
* African blackwood dermatitis
* Tulip fingers
* other: Abietic acid dermatitis
* Diaper rash
* Airbag dermatitis
* Baboon syndrome
* Contact stomatitis
* Protein contact dermatitis
Eczema
* Autoimmune estrogen dermatitis
* Autoimmune progesterone dermatitis
* Breast eczema
* Ear eczema
* Eyelid dermatitis
* Topical steroid addiction
* Hand eczema
* Chronic vesiculobullous hand eczema
* Hyperkeratotic hand dermatitis
* Autosensitization dermatitis/Id reaction
* Candidid
* Dermatophytid
* Molluscum dermatitis
* Circumostomy eczema
* Dyshidrosis
* Juvenile plantar dermatosis
* Nummular eczema
* Nutritional deficiency eczema
* Sulzberger–Garbe syndrome
* Xerotic eczema
Pruritus/Itch/
Prurigo
* Lichen simplex chronicus/Prurigo nodularis
* by location: Pruritus ani
* Pruritus scroti
* Pruritus vulvae
* Scalp pruritus
* Drug-induced pruritus
* Hydroxyethyl starch-induced pruritus
* Senile pruritus
* Aquagenic pruritus
* Aquadynia
* Adult blaschkitis
* due to liver disease
* Biliary pruritus
* Cholestatic pruritus
* Prion pruritus
* Prurigo pigmentosa
* Prurigo simplex
* Puncta pruritica
* Uremic pruritus
Other
* substances taken internally: Bromoderma
* Fixed drug reaction
* Nummular dermatitis
* Pityriasis alba
* Papuloerythroderma of Ofuji
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Chronic vesiculobullous hand eczema
|
c1276082
| 25,173 |
wikipedia
|
https://en.wikipedia.org/wiki/Chronic_vesiculobullous_hand_eczema
| 2021-01-18T18:35:27 |
{"umls": ["C1276082"], "wikidata": ["Q5114010"]}
|
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The obsessive–compulsive spectrum is a model of medical classification where various psychiatric, neurological and/or medical conditions are described as existing on a spectrum of conditions related to obsessive–compulsive disorder (OCD).[1] "The disorders are thought to lie on a spectrum from impulsive to compulsive where impulsivity is said to persist due to deficits in the ability to inhibit repetitive behavior with known negative consequences, while compulsivity persists as a consequence of deficits in recognizing completion of tasks."[2] OCD is a mental disorder characterized by obsessions and/or compulsions.[3] An obsession is defined as "a recurring thought, image, or urge that the individual cannot control".[4] Compulsion can be described as a "ritualistic behavior that the person feels compelled to perform".[4] The model suggests that many conditions overlap with OCD in symptomatic profile, demographics, family history, neurobiology, comorbidity, clinical course and response to various pharmacotherapies.[1] Conditions described as being on the spectrum are sometimes referred to as obsessive–compulsive spectrum disorders.
## Contents
* 1 Conditions
* 2 Body dysmorphic disorder
* 3 Hypochondriasis
* 4 Tic disorders
* 5 Trichotillomania
* 6 References
* 7 Sources
## Conditions[edit]
The following conditions have been hypothesized by various researchers as existing on the spectrum.
* Body dysmorphic disorder[1][5][6]
* Some forms of delusional disorder[1]
* Eating disorders, including anorexia nervosa,[1][7] bulimia nervosa[1][7] and binge eating disorder[1]
* Hypochondriasis[1]
* Impulse control disorders in general[1]
* Olfactory reference syndrome[8]
* Paraphilias[1][9]
* Pathological gambling[10]
* Pica[11]
* Non-paraphilic sexual addictions[1]
* Tourette syndrome[1]
* Body-focused repetitive behaviors, such as trichotillomania[1][12]
* Asperger syndrome (autism spectrum)[13]
* Social phobia[13][14]
* Compulsive hoarding
* Depersonalization disorder[15]
However, recently there is a growing support for proposals to narrow down this spectrum to only include body dysmorphic disorder, hypochondriasis, tic disorders, and trichotillomania.[2]
## Body dysmorphic disorder[edit]
Main article: Body dysmorphic disorder
Body dysmorphic disorder is defined by an obsession with an imagined defect in physical appearance, and compulsive rituals in an attempt to conceal the perceived defect. Typical complaints include perceived facial flaws, perceived deformities of body parts and body size abnormalities. Some compulsive behaviors observed include mirror checking, ritualized application of makeup to hide the perceived flaw, excessive hair combing or cutting, excessive physician visits and plastic surgery. Body dysmorphic disorder is not gender specific and onset usually occurs in teens and young adults.
## Hypochondriasis[edit]
Main article: Hypochondriasis
Hypochondriasis is excessive preoccupancy or worry about having a serious illness. These thoughts cause a person a great deal of anxiety and stress. The prevalence of this disorder is the same for men and women. Hypochondriasis is normally recognized in early adult age. Those that suffer with hypochondriasis are constantly thinking of their body functions, minor bumps and bruises as well as body images. Hypochondriacs go to numerous outpatient facilities for confirmation of their own diagnosis. Hypochondriasis is the belief that something is wrong but it is not known to be a delusion.
## Tic disorders[edit]
Tourette’s syndrome is a neurological disorder characterized by recurrent involuntary movements (motor tics) and involuntary noises (vocal tics). The reason Tourette’s syndrome and other tic disorders are being considered for placement in the obsessive compulsive spectrum is because of the phenomenology and co-morbidity of the disorders with obsessive compulsive disorder. Within the population of patients with OCD up to 40% have a history of a tic disorder and 60% of people with Tourette’s syndrome have obsessions and/or compulsions. Plus 30% of people with Tourette’s syndrome have clinically diagnosable OCD. Course of illness is another factor that suggests correlation because it has been found that tics displayed in childhood are a predictor of obsessive and compulsive symptoms in late adolescence and early adulthood. However, the association of Tourette’s and tic disorders with OCD is challenged by neuropsychology and pharmaceutical treatment. Whereas OCD is treated with SSRI, tics are treated with dopamine blockers and alpha-2 agonists.[citation needed]
## Trichotillomania[edit]
Trichotillomania is an impulse control disorder which causes an individual to pull out their hair from various parts of their body without a purpose. The cause for trichotillomania remains unknown. Like OCD, trichotillomania isn’t a nervous condition but stress can trigger this habit. For some people pulling their hair out of boredom is normal, but that isn’t the case for someone that is dealing with trichotillomania. Emotions do not affect the behavior but these behaviors are more prevalent in those that suffer with depression.[citation needed] Review articles recommend behavioral interventions such as habit reversal training[16] and decoupling.[17]
## References[edit]
1. ^ a b c d e f g h i j k l m McElroy SL; Phillips KA; Keck PE Jr. (October 1994). "Obsessive compulsive spectrum disorder". The Journal of Clinical Psychiatry. 55 Suppl: 33–51, discussion 52–3. PMID 7961531.
2. ^ a b Brakoulias, V; Starcevic, V.; Sammut, P.; Berle, D.; Milicevic, D.; Moses, K.; et al. (2011). "Obsessive-compulsive spectrum disorders: a comorbidity and family history perspective". Australasian Psychiatry. 19 (2): 151–155. doi:10.3109/10398562.2010.526718. PMID 21332382.
3. ^ Mayo Clinic Staff. "Obsessive-compulsive disorder (OCD)". Mayo Clinic. Retrieved 2013-05-02.
4. ^ a b "Quizlet: Abnormal Psych Ch 6 vocab". Retrieved 2013-05-02.
5. ^ Díaz Mársá M, Carrasco JL, Hollander E (1996). "Body dysmorphic disorder as an obsessive-compulsive spectrum disorder" [Body dysmorphic disorder as an obsessive–compulsive spectrum disorder]. Actas Luso-españolas de Neurología, Psiquiatría y Ciencias Afines (in Spanish). 24 (6): 331–7. PMID 9054204.
6. ^ Phillips KA, McElroy SL, Hudson JI, Pope HG (1995). "Body dysmorphic disorder: an obsessive–compulsive spectrum disorder, a form of affective spectrum disorder, or both?". The Journal of Clinical Psychiatry. 56 Suppl 4: 41–51, discussion 52. PMID 7713865.
7. ^ a b Bellodi L, Cavallini MC, Bertelli S, Chiapparino D, Riboldi C, Smeraldi E (April 2001). "Morbidity risk for obsessive–compulsive spectrum disorders in first-degree relatives of patients with eating disorders". The American Journal of Psychiatry. 158 (4): 563–9. doi:10.1176/appi.ajp.158.4.563. PMID 11282689.
8. ^ Stein DJ, Le Roux L, Bouwer C, Van Heerden B (1998). "Is olfactory reference syndrome an obsessive–compulsive spectrum disorder?: two cases and a discussion". The Journal of Neuropsychiatry and Clinical Neurosciences. 10 (1): 96–9. doi:10.1176/jnp.10.1.96. PMID 9547473.
9. ^ Bradford JM (1999). "The paraphilias, obsessive compulsive spectrum disorder, and the treatment of sexually deviant behaviour". The Psychiatric Quarterly. 70 (3): 209–19. doi:10.1023/A:1022099026059. PMID 10457546.
10. ^ Blaszczynski A (February 1999). "Pathological gambling and obsessive–compulsive spectrum disorders". Psychological Reports. 84 (1): 107–13. doi:10.2466/PR0.84.1.107-113. PMID 10203933.
11. ^ Hergüner S, Ozyildirim I, Tanidir C (December 2008). "Is Pica an eating disorder or an obsessive–compulsive spectrum disorder?". Progress in Neuro-psychopharmacology & Biological Psychiatry. 32 (8): 2010–1. doi:10.1016/j.pnpbp.2008.09.011. PMID 18848964.
12. ^ Swedo SE, Leonard HL (December 1992). "Trichotillomania. An obsessive compulsive spectrum disorder?". The Psychiatric Clinics of North America. 15 (4): 777–90. doi:10.1016/S0193-953X(18)30208-9. PMID 1461795.
13. ^ a b Danielle C. Cath; Natalie Ran; Johannes H. Smit; Anton J.L.M. van Balkoma; Hannie C. Comijsa (2008). "Symptom Overlap between Autism Spectrum Disorder, Generalized Social Anxiety Disorder and Obsessive-Compulsive Disorder in Adults: A Preliminary Case-Controlled Study". Psychopathology. 41 (2): 101–110. doi:10.1159/000111555. PMID 18033980.
14. ^ Giulio Perugi; Hagop S Akiskal; Sandra Ramacciotti; Stefano Nassini; Cristina Toni; Alessandro Milanfranchi; Laura Musetti (1999). "Depressive comorbidity of panic, social phobic, and obsessive–compulsive disorders re-examined: is there a bipolar ii connection?". Journal of Psychiatric Research. 33 (1): 53–61. doi:10.1016/S0022-3956(98)00044-2. PMID 10094240.
15. ^ Allen, Andrea; King, Audrey; Hollander, Eric (September 2003). "Obsessive-compulsive spectrum disorders". Dialogues in Clinical Neuroscience. 5 (3): 259–271. ISSN 1294-8322. PMC 3181632. PMID 22033547.
16. ^ Himle, Michael B.; Flessner, Christopher A.; Woods, Douglas W. (2004). "Advances in the behavior analytic treatment of trichotillomania and Tourette's Syndrome". Journal of Early and Intensive Behavior Intervention. 1 (1): 57–64. doi:10.1037/h0100282. ISSN 1554-4893.
17. ^ Sarris, Jerome; Camfield, David; Berk, Michael (2012). "Complementary medicine, self-help, and lifestyle interventions for Obsessive Compulsive Disorder (OCD) and the OCD spectrum: A systematic review". Journal of Affective Disorders. 138 (3): 213–221. doi:10.1016/j.jad.2011.04.051.
## Sources[edit]
* Yaryura-Tobias JA, Stevens KP, Pérez-Rivera R, Boullosa OE, Neziroglu F (October 2000). "Negative outcome after neurosurgery for refractory obsessive–compulsive spectrum disorder". The World Journal of Biological Psychiatry. 1 (4): 197–203. doi:10.3109/15622970009150592. PMID 12607216.
* Curran S, Matthews K (April 2001). "Response to Yaryura-Tobias et al (2000) negative outcome after neurosurgery for refractory obsessive–compulsive spectrum disorder, World J Biol Psychiatry 1: 197-203". The World Journal of Biological Psychiatry. 2 (2): 107. doi:10.3109/15622970109027502. PMID 12587194.
* Yaryura-Tobias JA (October 2001). "Response to Dr. S. Curran and Dr. K. Matthew's Letter to the editor (World J Biol Psychiatry 2001, 2: 107) concerning Yaryura-Tobias et al (2000) negative outcome after neurosurgery for refractory obsessive–compulsive spectrum disorder, World J Biol Psychiatry 1: 197-203". The World Journal of Biological Psychiatry. 2 (4): 199. doi:10.3109/15622970109026811. PMID 12587151.
* Hollander, Eric; Benzaquen, Stephanie D. (January 1997). "The obsessive-compulsive spectrum disorders". International Review of Psychiatry. 9 (1): 99–110. doi:10.1080/09540269775628. ISSN 0954-0261. PMC 3181632. PMID 22033547.
* Ravindran, Arun V; da Silva, Tricia L; Ravindran, Lakshmi N; Richter, Margaret A; Rector, Neil A (May 2009). "Obsessive-Compulsive Spectrum Disorders: A Review of the Evidence-Based Treatments". The Canadian Journal of Psychiatry. 54 (5): 331–343. doi:10.1177/070674370905400507. ISSN 0706-7437. PMID 19497165.
* Brakoulias, Vlasios; Starcevic, Vladan; Sammut, Peter; Berle, David; Milicevic, Denise; Moses, Karen; Hannan, Anthony (April 2011). "Obsessive-Compulsive Spectrum Disorders: a Comorbidity and Family History Perspective". Australasian Psychiatry. 19 (2): 151–155. doi:10.3109/10398562.2010.526718. ISSN 1039-8562. PMID 21332382.
* Lochner, Christine; Stein, Dan J. (2010). "Obsessive-Compulsive Spectrum Disorders in Obsessive-Compulsive Disorder and Other Anxiety Disorders". Psychopathology. 43 (6): 389–396. doi:10.1159/000321070. ISSN 0254-4962. PMID 20847586.
* "What Is Hair Pulling? About Hair Pulling & Skin Picking". Trichotillomania Learning Center. April 17, 2013.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: 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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Obsessive–compulsive spectrum
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{"wikidata": ["Q8778538"]}
|
Hedonophobia
SpecialtyPsychology
Hedonophobia is an excessive fear or aversion to obtaining pleasure.[1] The purported background of some such associated feelings may be due to an egalitarian-related sentiment, whereby one feels a sense of solidarity with individuals in the lowest Human Development Index countries.[2] For others, a recurring thought that some things are too good to be true has resulted in an ingrainedness that they are not entitled to feel too good.[3] Sometimes, it can be triggered by a religious upbringing wherein asceticism is propounded.[4]
Hedonophobia is formally defined as the fear of experiencing pleasure. 'Hedon' or 'hedone' comes from ancient Greek, meaning 'pleasure' + fear: 'phobia'. Hedonophobia is the inability to enjoy pleasurable experiences, and is often a persistent malady. Diagnosis of the condition is usually related to the age of 'maturity' in each country where the syndrome exists. For instance, in the US a person must be 18 years old to be considered an adult,[5] whereas in Canada he or she must be 18 or 19 years old, depending on the province of residence. Globally, the ages range from (+/-) 12 to 24[6] years and are mainly determined by traditional ethical practices from previous societies[clarification needed]. High anxiety, panic attacks, and extreme fear are symptoms that can result from anticipating pleasure of any kind. Expecting or anticipating pleasure at some point in the future can also trigger an attack.
Hedonophobics have a type of guilt about feeling pleasure or experiencing pleasurable sensations, due to a cultural background or training (either religious or cultural) that eschews pleasurable pursuits as frivolous or inappropriate. Oftentimes, social guilt is connected to having fun while others are suffering, and is common for those who feel undeserving or have self-worth issues to work through. Also, there is a sense that they shouldn't be given pleasures due to their lack of performance in life, and because they have done things that are deemed "wrong" or "undeserving."[7]
To determine the depth of the diagnosis for those who suffer from hedonophobia, background is crucial. For example, when a child is taught that a strong work ethic is all that makes them worthy of the good things in life, guilt becomes a motivator to move away from pleasure when they begin to experience it. The individual learns that pleasures are bad, and feeling good is not as sanctified as being empathetic towards those who suffer.
C.B.T. (Cognitive Behavioral Therapy) is an effective approach to the resolution of past beliefs that infiltrate and affect the sufferer's current responses to various situations. Medication is only necessary when there is an interference in the person's normal daily functioning. Various techniques are used by those afflicted with the condition to hide, camouflage or mask their aversion to pleasure.[medical citation needed]
Any relationship that includes things that are pleasurable is re-established when the sufferer learns that he is not worthy of anything pleasurable, or that he only deserves the opposite of those things which are pleasurable. A disconnect is necessary to determine the sufferer's lack of ability to intervene in the overall process.
## References[edit]
1. ^ A Nurse's Guide to Women's Mental Health - Page 209, Michele R. Davidson, 2012
2. ^ An Excess of Phobias and Manias - Page 96, John G. Robertson - 2003
3. ^ Multi-Secularism: A New Agenda - Page 69, Paul Kurtz - 2014
4. ^ Psychotherapist, Terri Cole Licensed (28 July 2012). "WATCH: Don't Be Your Own Buzzkill!".
5. ^ "What are the Highest and Lowest Ages of Consent?".
6. ^ ChartsBin. "Minimum Legal Age of Consent - Female".
7. ^ "Hedonophobia – Symptoms and Causes of Hedonophobia – Treatment".
* v
* t
* e
Simple living
Practices
* Barter
* Cord-cutting
* DIY ethic
* Downshifting
* Dry toilet
* Fasting
* Forest gardening
* Freeganism
* Frugality
* Gift economy
* Intentional community
* Local currency
* Low-impact development
* No frills
* Off-the-grid
* Permaculture
* Regift
* Self-sufficiency
* Subsistence agriculture
* Sustainable living
* Sustainable sanitation
* Veganism
* Vegetarianism
* War tax resistance
* WWOOF
Religious and spiritual
* Amish
* Aparigraha
* Asceticism
* Cynicism
* Detachment
* Distributism
* Jesus movement
* Mendicant
* Mindfulness
* Monasticism
* New Monasticism
* Plain dress
* Plain people
* Quakers
* Rastafari
* Temperance
* Testimony of simplicity
* Tolstoyan movement
* Twelve Tribes communities
Secular movements
* Back-to-the-land
* Car-free
* Compassionate living
* Environmental
* Hippie
* Open Source Ecology
* Slow
* Small house
* Tiny house
* Transition town
Notable writers
* Wendell Berry
* Ernest Callenbach
* G. K. Chesterton
* Duane Elgin
* Mahatma Gandhi
* Richard Gregg
* Tom Hodgkinson
* Harlan Hubbard
* Satish Kumar
* Helen Nearing
* Scott Nearing
* Peace Pilgrim
* Nick Rosen
* Dugald Semple
* E. F. Schumacher
* George Skene Keith
* Henry David Thoreau
* Leo Tolstoy
* Valluvar
Modern-day adherents
* Mark Boyle
* Rob Greenfield
* Jim Merkel
* Peace Pilgrim
* Suelo
* Thomas
* Varg Vikernes
Media
* "Anekdote zur Senkung der Arbeitsmoral"
* Escape from Affluenza
* The Good Life
* The Moon and the Sledgehammer
* Mother Earth News
* The Power of Half
* Small Is Beautiful
* Walden
Related topics
* Affluenza
* Agrarianism
* Amateurism
* Anarcho-primitivism
* Anti-consumerism
* Appropriate technology
* Bohemianism
* Consumerism
* Deep ecology
* Degrowth
* Ecological footprint
* Food miles
* Front Porch Republic
* Green anarchism
* The good life
* Global warming
* Hedonophobia
* Intentional living
* Itinerant
* Low-technology
* Nonviolence
* Peak oil
* Sustainability
* Work–life balance
This psychology-related article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
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wikipedia
|
https://en.wikipedia.org/wiki/Hedonophobia
| 2021-01-18T18:39:25 |
{"wikidata": ["Q23679966"]}
|
A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices.
## Epidemiology
The exact prevalence is not known. Most cases have been reported from the Far-East. Women are more commonly affected than men.
## Clinical description
Patients with renal nutcracker syndrome (NCS) are usually asthenic, tall and thin. Many patients remain asymptomatic and are incidentally discovered during radiological imaging for other causes. Symptomatic cases present mostly in second/third decade of life with urological or gynecological symptoms. Urological manifestations include left loin/abdominal pain, left-sided macroscopic or microscopic hematuria (on endoscopy, varicocele, or lower limb varices. Gynecological symptoms resemble pelvic congestion syndrome and include symptoms of dysmenorrhea, dyspareunia, post-coital ache, lower abdominal pain, dysuria, pelvic/vulvar/gluteal/gonadal or thigh varices, and emotional disturbances. Three types of renal nutcracker syndrome have been defined, according to the site of LVR compression: anterior nutcracker syndrome, posterior nutcracker syndrome and combined nutcracker syndrome.
## Etiology
Normally SMA separates from the abdominal aorta (AA) at a 90-degree angle. The LRV lies anterior to the aorta in the fork between the SMA and AA. In anterior NCS, the SMA arises from the aorta at an acute angle, compressing the LRV causing left renal venous hypertension. In posterior NCS, the LRV courses posterior to the AA and is compressed between the aorta and the vertebral column. In combined NCS, the anterior branch of the duplicated LRV is compressed between the aorta and the SMA, while the posterior is sandwiched between the aorta and the vertebral column.
## Diagnostic methods
Diagnosis should be suspected upon presentation with left-sided loin pain and hematuria. Diagnostic tests include urine analysis, ultrasound scan, color Doppler scan, CT or MR angiography, and left renal vein phlebography and manometry. Doppler sonography is usually the first imaging tool, which can detect collateral veins around LVR, whose presence sustains venous hypertension and are a radiological criterion for NCS. The ''gold standard'' for diagnosis remain phlebography, intravascular pressure measurement and intravascular ultrasound through which the venous pressure gradient between LRV and inferior vena cava and the renal vein diameter can be measured. Patients usually show an LRV/inferior vena cava pressure gradient >1 mmHg. Computed tomography venography and magnetic resonance venography are noninvasive evaluation tools which provide good definition of LVR compression and grade of involvement of other organs.
## Differential diagnosis
Compression of LRV leading to loin pain and hematuria can be seen in pancreatic neoplasms, paraortic lymphoadenopathy, retroperitoneal masses, overarching testicular artery, lordosis, reduced retroperitoneal and mesenteric fat or too much fibrolymphatic tissue between SMA and AA.
## Management and treatment
Surveillance is appropriate in pubertal patients, who may undergo spontaneous remission with physical development and weight gain, and in patients with insignificant symptoms and microscopic hematuria, or intermittent painless gross hematuria with a normal hemogram. Open surgery procedures with good outcomes include vascular transpositions and renal auto transplantation. Extra-vascular stenting can be performed through open or laparoscopic surgery. Intravascular stenting is a treatment option in which a self-expanding metallic stent is deployed in the stenotic region of the LRV.
## Prognosis
As this is a benign condition, overall prognosis is excellent. In highly symptomatic patients, with severe pain, frank/recurrent hematuria requiring blood transfusion, active intervention needs to be considered. Prognosis following intervention is excellent.
* European Reference Network
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Renal nutcracker syndrome
|
c3178770
| 25,176 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=71273
| 2021-01-23T18:09:04 |
{"gard": ["11971"], "mesh": ["D059228"], "umls": ["C3178770"], "synonyms": ["Left renal vein entrapment syndrome", "RNS"]}
|
Retinitis pigmentosa (RP) is a group of inherited eye diseases that affect the light-sensitive part of the eye (retina). RP causes cells in the retina to die, causing progressive vision loss. The first sign of RP usually is night blindness. As the condition progresses, affected individuals develop tunnel vision (loss of peripheral vision), and eventually loss of central vision. RP may be caused by mutations in any of at least 50 genes. Inheritance can be autosomal dominant, autosomal recessive, or X-linked. Treatment options to slow the progression of vision loss include light avoidance, use of low-vision aids, and vitamin A supplementation. Researchers are working to develop new treatment options for the future such as gene therapy, stem cell transplantation and prosthetic implants.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Retinitis pigmentosa
|
c0035334
| 25,177 |
gard
|
https://rarediseases.info.nih.gov/diseases/5694/retinitis-pigmentosa
| 2021-01-18T17:57:58 |
{"mesh": ["D012174"], "omim": ["268000"], "orphanet": ["791"], "synonyms": ["RP"]}
|
Stüve-Wiedemann syndrome is a severe condition characterized by bone abnormalities and dysfunction of the autonomic nervous system, which controls involuntary body processes such as the regulation of breathing rate and body temperature. The condition is apparent from birth, and its key features include abnormal curvature (bowing) of the long bones in the legs, difficulty feeding and swallowing, and episodes of dangerously high body temperature (hyperthermia).
In addition to bowed legs, affected infants can have bowed arms, permanently bent fingers and toes (camptodactyly), and joint deformities (contractures) in the elbows and knees that restrict their movement. Other features include abnormalities of the pelvic bones (the ilia) and reduced bone mineral density (osteopenia).
In infants with Stüve-Wiedemann syndrome, dysfunction of the autonomic nervous system typically leads to difficulty feeding and swallowing, breathing problems, and episodes of hyperthermia. Affected infants may also sweat excessively, even when the body temperature is not elevated, or have a reduced ability to feel pain. Many babies with this condition do not survive past infancy because of the problems regulating breathing and body temperature; however, some people with Stüve-Wiedemann syndrome live into adolescence or later.
Problems with breathing and swallowing usually improve in affected children who survive infancy; however, they still have difficulty regulating body temperature. In addition, the leg bowing worsens, and children with Stüve-Wiedemann syndrome may develop prominent joints, an abnormal curvature of the spine (scoliosis), and spontaneous bone fractures. Some affected individuals have a smooth tongue that lacks the bumps that house taste buds (fungiform papillae). Affected children may also lose certain reflexes, particularly the reflex to blink when something touches the eye (corneal reflex) and the knee-jerk reflex (patellar reflex).
Another condition once known as Schwartz-Jampel syndrome type 2 is now considered to be part of Stüve-Wiedemann syndrome. Researchers have recommended that the designation Schwartz-Jampel syndrome type 2 no longer be used.
## Frequency
Stüve-Wiedemann syndrome is a rare condition that has been found worldwide. Its prevalence is unknown.
## Causes
Stüve-Wiedemann syndrome is usually caused by mutations in the LIFR gene. This gene provides instructions for making a protein called leukemia inhibitory factor receptor (LIFR). Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function.
The LIFR protein acts as a receptor for a ligand known as leukemia inhibitory factor (LIF). LIFR signaling can control several cellular processes, including growth and division (proliferation), maturation (differentiation), and survival. First found to be important in blocking (inhibiting) growth of blood cancer (leukemia) cells, this signaling is also involved in the formation of bone and the development of nerve cells. It appears to play an important role in normal development and functioning of the autonomic nervous system.
Most LIFR gene mutations that cause Stüve-Wiedemann syndrome prevent production of any LIFR protein. Other mutations lead to production of an altered protein that likely cannot function. Without functional LIFR, signaling is impaired. The lack of LIFR signaling disrupts normal bone formation, leading to osteopenia, bowed legs, and other skeletal problems common in Stüve-Wiedemann syndrome. In addition, development of nerve cells, particularly those involved in the autonomic nervous system, is abnormal, leading to the problems with breathing, feeding, and regulating body temperature characteristic of this condition.
A small number of people with Stüve-Wiedemann syndrome do not have an identified mutation in the LIFR gene. Researchers suggest that other genes that have not been identified may be involved in this condition.
### Learn more about the gene associated with Stüve-Wiedemann syndrome
* LIFR
## 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
|
Stüve-Wiedemann syndrome
|
c0796176
| 25,178 |
medlineplus
|
https://medlineplus.gov/genetics/condition/stuve-wiedemann-syndrome/
| 2021-01-27T08:25:07 |
{"gard": ["5045"], "mesh": ["C537502"], "omim": ["601559"], "synonyms": []}
|
## Clinical Features
Kirsch (1953) described ossification of the external ears in grandfather, father and son. Ossification occurs with calcification of the ear cartilages in hereditary conditions such as diastrophic dysplasia (222600), cold sensitivity (120100), alkaptonuria (203500), and Keutel syndrome (245150). DiBartolomeo (1985) gave a full review of what he called 'the petrified auricle.' Among the systemic diseases associated with this finding are Addison disease and chronic relapsing polychondritis (von Meyenburg disease) (McKusick and Goodman, 1962; McKusick, 1964). DiBartolomeo (1985) described ossified ears in 2 men in their 70s who sustained severe frostbite earlier in life.
Inheritance \- Autosomal dominant Ears \- Ossified ear cartilage ▲ 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
|
OSSIFIED EAR CARTILAGES
|
c1833791
| 25,179 |
omim
|
https://www.omim.org/entry/165670
| 2019-09-22T16:37:04 |
{"mesh": ["C563488"], "omim": ["165670"]}
|
Type of asymmetric abnormality of the gait
For other uses, see Limp (disambiguation).
"Lameness" redirects here. For lameness in horses, see Lameness (equine).
Limp
Play media
Limping
SpecialtyNeurology, pediatrics, orthopedics
A limp is a type of asymmetric abnormality of the gait. Limping may be caused by pain, weakness, neuromuscular imbalance, or a skeletal deformity. The most common underlying cause of a painful limp is physical trauma; however, in the absence of trauma, other serious causes, such as septic arthritis or slipped capital femoral epiphysis, may be present. The diagnostic approach involves ruling out potentially serious causes via the use of X-rays, blood tests, and sometimes joint aspiration. Initial treatment involves pain management. A limp is the presenting problem in about 4% of children who visit hospital emergency departments.[1]
## Contents
* 1 Definition
* 2 Differential diagnosis
* 2.1 Infection
* 2.1.1 Septic arthritis
* 2.1.2 Other
* 2.2 Mechanical
* 2.2.1 Trauma
* 2.2.2 Slipped capital femoral epiphysis
* 2.2.3 Other
* 2.3 Inflammatory
* 2.3.1 Transient synovitis
* 2.3.2 Juvenile rheumatoid arthritis
* 2.4 Vascular
* 2.4.1 Legg–Calvé–Perthes syndrome
* 2.5 Neoplastic
* 3 Diagnostic approach
* 4 Epidemiology
* 5 References
* 6 External links
## Definition[edit]
A limp is a type of asymmetric abnormality of the gait. When due to pain it is referred to as an antalgic gait, in which the foot is in contact with the ground for a shorter duration than usual; in severe cases there may be a refusal to walk.[2] Hip deformities with associated muscular weakness, on the other hand, may present with a Trendelenburg gait, with the body shifted over the affected hip.[2]
## Differential diagnosis[edit]
The causes of limping are many and can be either serious or non-serious. It usually results from pain, weakness, neuromuscular imbalance, or a skeletal deformity.[2] In 30% of cases, the underlying cause remains unknown after appropriate investigations.[2] The most common underlying cause of limping in children is minor physical trauma. In those with no history of trauma, 40% are due to transient synovitis and 2% are from Legg–Calvé–Perthes syndrome.[3] Other important causes are infectious arthritis, osteomyelitis, and slipped capital femoral epiphysis in children.
### Infection[edit]
#### Septic arthritis[edit]
Septic arthritis can be difficult to separate from less serious conditions such as transient synovitis. Factors that can help indicate septic arthritis rather than synovitis include a WBC count greater than 12×109/l, fever greater than 38.5 °C (101.3 °F), ESR greater than 40 mm/h, CRP greater than 2.0 mg/dL, and refusal to walk.[4] People with septic arthritis usually look clinically toxic or sick.[5] Even in the absence of any of these factors, however, septic arthritis may be present.[6] Joint aspiration is required to confirm the diagnosis.[6]
#### Other[edit]
Other infections that classically lead to a limp include Lyme disease (a bacterial infection spread by deer ticks) and osteomyelitis (an infection of the bone).[7]
### Mechanical[edit]
#### Trauma[edit]
Accidental or deliberate physical trauma may result in either a fracture, muscle bruising, or a contusion.[7] It is the leading cause of a limp.[2] Deliberate abuse is important to consider.
#### Slipped capital femoral epiphysis[edit]
Slipped capital femoral epiphysis (SCFE) is a condition in which the growth plate of the head of the femur slips over the underlying bone. It most commonly presents with hip pain in males during puberty and is associated with obesity.[2] The majority of people affected have a painful limp and in half of cases both hips are affected.[2] Nearly a quarter of people present with only knee pain.[7] Treatment involves non-weight-bearing movement and surgery.[2] If not identified early, osteonecrosis or death of the head of the femur may occur.[7]
#### Other[edit]
A non-painful limp may be due to a number of mechanical conditions including hip dysplasia and leg length differences.[7]
### Inflammatory[edit]
#### Transient synovitis[edit]
Transient synovitis is a reactive arthritis of the hip of unknown cause.[2] People are usually able to walk and may have a low grade fever.[2] They usually look clinically nontoxic or otherwise healthy.[5] It may only be diagnosed once all other potential serious causes are excluded. With symptomatic care it usually resolves over one week.[2]
#### Juvenile rheumatoid arthritis[edit]
Juvenile rheumatoid arthritis presents gradually with early morning stiffness, fatigue, and weight loss.[5]
### Vascular[edit]
#### Legg–Calvé–Perthes syndrome[edit]
Legg–Calvé–Perthes syndrome is a degenerative disease of the head of the femur which results in bone loss and deformity. It usually presents as a chronic condition.[7]
### Neoplastic[edit]
Cancers including acute lymphocytic leukemia, osteosarcoma, and Ewing’s sarcoma may result in a gradual onset of limping in children. It is often associated with night sweating, easy bruising, weight loss, and pain most prominent at night.[5][7]
## Diagnostic approach[edit]
The diagnosis of the cause of a limp is often made based on history, physical exam findings, laboratory tests, and radiological examination. If a limp is associated with pain it should be urgently investigated, while non-painful limps can be approached and investigated more gradually.[5] Young children have difficulty determining the location of leg pain, thus in this population, knee pain equals hip pain.[7] SCFE can usually be excluded by an x-ray of the hips.[2] An ultrasound or x-ray guided aspiration of the hip joint maybe required to rule out an infectious process within the hip.[2]
## Epidemiology[edit]
A limp at one hospital emergency department was the presenting complaint in 4% of children.[1] It occurs twice as commonly in boys as in girls.[3]
## References[edit]
1. ^ a b Singer JI (March 1985). "The cause of gait disturbance in 425 pediatric patients". Pediatr Emerg Care. 1 (1): 7–10. doi:10.1097/00006565-198503000-00003. PMID 3843430.
2. ^ a b c d e f g h i j k l m Laine JC, Kaiser SP, Diab M (February 2010). "High-risk pediatric orthopedic pitfalls". Emerg. Med. Clin. North Am. 28 (1): 85–102, viii. doi:10.1016/j.emc.2009.09.008. PMID 19945600.
3. ^ a b Fischer SU, Beattie TF (November 1999). "The limping child: epidemiology, assessment and outcome". J Bone Joint Surg Br. 81 (6): 1029–34. doi:10.1302/0301-620X.81B6.9607. PMID 10615981.
4. ^ Kocher MS, Mandiga R, Zurakowski D, Barnewolt C, Kasser JR (August 2004). "Validation of a clinical prediction rule for the differentiation between septic arthritis and transient synovitis of the hip in children". J Bone Joint Surg Am. 86-A (8): 1629–35. PMID 15292409.
5. ^ a b c d e Sawyer JR, Kapoor M (February 2009). "The limping child: a systematic approach to diagnosis". Am Fam Physician. 79 (3): 215–24. PMID 19202969.
6. ^ a b Caird MS, Flynn JM, Leung YL, Millman JE, D'Italia JG, Dormans JP (June 2006). "Factors distinguishing septic arthritis from transient synovitis of the hip in children. A prospective study". J Bone Joint Surg Am. 88 (6): 1251–7. doi:10.2106/JBJS.E.00216. PMID 16757758.
7. ^ a b c d e f g h Frick SL (April 2006). "Evaluation of the child who has hip pain". Orthop. Clin. North Am. 37 (2): 133–40, v. doi:10.1016/j.ocl.2005.12.003. PMID 16638444.
## External links[edit]
Classification
D
* ICD-9-CM: 719.7
* DiseasesDB: 22069
External resources
* eMedicine: article/802506
* v
* t
* e
Diseases of joints
General
* Arthritis
* Monoarthritis
* Oligoarthritis
* Polyarthritis
Symptoms
* Joint pain
* Joint stiffness
Inflammatory
Infectious
* Septic arthritis
* Tuberculosis arthritis
Crystal
* Chondrocalcinosis
* CPPD (Psudogout)
* Gout
Seronegative
* Reactive arthritis
* Psoriatic arthritis
* Ankylosing spondylitis
Other
* Juvenile idiopathic arthritis
* Rheumatoid arthritis
* Felty's syndrome
* Palindromic rheumatism
* Adult-onset Still's disease
Noninflammatory
* Hemarthrosis
* Osteoarthritis
* Heberden's node
* Bouchard's nodes
* Osteophyte
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Limp
|
c0311395
| 25,180 |
wikipedia
|
https://en.wikipedia.org/wiki/Limp
| 2021-01-18T18:52:45 |
{"wikidata": ["Q2909116"]}
|
Löffler's syndrome
Other namesLoeffler's syndrome
Eosinophil
SpecialtyRespirology
Löffler's syndrome is a disease in which eosinophils accumulate in the lung in response to a parasitic infection. The parasite can be Strongyloides stercoralis, Dirofilaria immitis[1] or Ascaris which can enter the body through contact with the soil.[2] The symptoms of Löffler's syndrome include those of a parasitic infection such as irritable bowel syndrome, abdominal pain and cramping, skin rashes and fatigue. Löffler's syndrome itself will cause difficulty breathing, coughing as well as a fever.
## Contents
* 1 Diagnosis
* 2 Prevention
* 3 Epidemiology
* 4 History
* 5 See also
* 6 References
* 7 External links
## Diagnosis[edit]
The diagnosis of Loffler's syndrome can be challenging, as the diagnostic criteria can be vague and consistent with a multitude of diseases or conditions. The disease's developmental trajectory is mostly unknown. Upon examination of symptoms, a doctor will likely request a chest x-ray looking for migratory pulmonary infiltrate, and blood testing, to confirm a diagnosis. Symptoms tend to be brief, but can range from mild to severe and include: fever, vomiting, increased respirations or difficulty breathing, cough, wheeze, and rash. Symptoms typically follow an exposure to allergens or certain drugs, and last approximately two weeks.[3]
Eosinophilia is the main feature of diagnostic criteria for Loffler's syndrome. Eosinophils are white blood cells that fight infection by destroying foreign substances in the body. This increase is determined through a blood test called a complete blood count, or CBC. A result of over 500 cells/mcL (cells per microliter of blood) is considered elevated.[4] The normal range for eosinophils is less than 350 cells/mcL.[5]
## Prevention[edit]
While the outcomes of this syndrome have never lead to death the symptoms can last anywhere from 2 to 4 weeks after the parasite enters the body. Prevention of this syndrome is education-based, consisting of educating individuals on proper handwashing techniques, as well as how to correctly dispose of feces.[citation needed]
## Epidemiology[edit]
This syndrome can be found anywhere however, it is abnormally prevalent in tropical areas, showing higher prevalence in men than women.[6] This syndrome is also exceedingly common in the warm damp parts of the world.[7] The syndrome is also more likely to be contracted by small children since they spend an increased amount of time outside in the dirt.[8] While it is still a mystery why the prevalence is higher in Indians, the warm damp environment is a perfect place for the parasites to grow and thrive. The epidemiological aspect of Löffler's syndrome isn't well known since there have been minimal statistics reported on the topic.[citation needed]
## History[edit]
In 1909 a man named H. French first described the condition.[9] Then in 1932 Wilhelm Löffler [1] drew attention to the disease in cases of eosinophilic pneumonia caused by the parasites Ascaris lumbricoides,[2] Strongyloides stercoralis and the hookworms Ancylostoma duodenale and Necator americanus. Finally in 1943 the condition was called tropical eosinophilia by RJ Weingarten, and later officially named Löffler's syndrome.[9] The most well-known case of Löffler's syndrome was in a young boy from Louisiana. He arrived at the hospital reporting a high fever after three days, as well as having rapid breathing. "He was hospitalized and treated with supplemental oxygen, intravenous methylprednisolone, and nebulized albuterol."[10] The boy's symptoms quickly subsided and upon further investigation it was discovered that the boy worked caring for pigs. A test was then performed on the pigs' fecal matter and surrounding soil; it contained the parasite that had caused the boy's ailment.[citation needed]
Another incident again involved a young boy who had suffered from vomiting and a fever for a span of 3 months. When the doctors finally took an echocardiograph of the child they discovered that the "patient's admission blood count showed leukocytosis with an abnormally elevated level of peripheral eosinophils."[11] The child was then diagnosed with Löffler's endocarditis, and immediately began immunosuppressive therapy to decline the eosinophilic count.
Although Löffler only described eosinophilic pneumonia in the context of infection, many authors give the term "Löffler's syndrome" to any form of acute onset pulmonary eosinophilia no matter what the underlying cause. If the cause is unknown, it is specified and called "simple pulmonary eosinophilia". Cardiac damage caused by the damaging effects of eosinophil granule proteins (e.g. major basic protein) is known as Loeffler endocarditis and can be caused by idiopathic eosinophilia or eosinophilia in response to parasitic infection.[12]
## See also[edit]
* Eosinophilic pneumonia
* Parasitic pneumonia
* Pneumonia
## References[edit]
1. ^ "What is Loeffler's Syndrome | Medindia". www.medindia.net. Retrieved 2018-12-02.
2. ^ Prevention, CDC-Centers for Disease Control and (2017-05-02). "CDC - Strongyloides - General Information - Frequently Asked Questions". www.cdc.gov. Retrieved 2018-12-05.
3. ^ "Löffler's syndrome". British Medical Journal. 3 (5618): 569–570. 1968-09-07. ISSN 0007-1447. PMC 1991125. PMID 5667987.
4. ^ "Eosinophilia". Mayo Clinic. Retrieved 2018-12-05.
5. ^ "What Is an Eosinophil Count?". WebMD. Retrieved 2018-12-05.
6. ^ https://www.ncbi.nlm.nih.gov/books/NBK534850/
7. ^ "Löffler's syndrome". British Medical Journal. 3 (5618): 569–570. 1968-09-07. ISSN 0007-1447. PMC 1991125. PMID 5667987.
8. ^ "Loffler Syndrome Clinical Presentation: History, Physical, Causes". emedicine.medscape.com. Retrieved 2018-12-05.
9. ^ a b "Löffler's syndrome". British Medical Journal. 3 (5618): 569–570. 1968-09-07. ISSN 0007-1447. PMC 1991125. PMID 5667987.
10. ^ Gipson, Avery, Shah, Pepiak, Begue, Malone, Wall, Kevin, Ryan, Heena, Derek, Rodolfo, John, Luke. "Loeffler syndrome of a Louisiana pig farm" (PDF). Respiratory Medicine Case Reports.CS1 maint: multiple names: authors list (link)
11. ^ Narula, Nidhi; Mahajan, Rajiv; Rohit, Manojkumar (2010). "Loeffler's Syndrome". Pediatric Cardiology. 31 (6): 931–932. doi:10.1007/s00246-010-9732-7. PMID 20496063.
12. ^ Kovalszki, Anna; Weller, Peter F. (December 2016). "Eosinophilia". Primary Care. 43 (4): 607–617. doi:10.1016/j.pop.2016.07.010. ISSN 0095-4543. PMC 5293177. PMID 27866580.
## External links[edit]
Classification
D
* ICD-10: J82
* ICD-9-CM: 518.3
* MeSH: D011657
* DiseasesDB: 7580
External resources
* MedlinePlus: 000105
* eMedicine: ped/1322
* v
* t
* e
Diseases of the respiratory system
Upper RT
(including URTIs,
common cold)
Head
sinuses
Sinusitis
nose
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Nasal polyp
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nasal septum
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tonsil
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pharynx
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larynx
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vocal cords
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Vocal fold nodule
Vocal fold paresis
Vocal cord dysfunction
epiglottis
Epiglottitis
trachea
Tracheitis
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Lower RT/lung disease
(including LRTIs)
Bronchial/
obstructive
acute
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chronic
COPD
Chronic bronchitis
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unspecified
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restrictive
(fibrosis)
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occupational
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Lycoperdonosis
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* ARDS
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* Pulmonary edema
* Löffler's syndrome/Eosinophilic pneumonia
* Respiratory hypersensitivity
* Allergic bronchopulmonary aspergillosis
* Hamman-Rich syndrome
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Obstructive / Restrictive
Pneumonia/
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By pathogen
* Viral
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By vector/route
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* Respiratory failure
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* Idiopathic pulmonary haemosiderosis
* Pulmonary alveolar proteinosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Löffler's syndrome
|
c0242459
| 25,181 |
wikipedia
|
https://en.wikipedia.org/wiki/L%C3%B6ffler%27s_syndrome
| 2021-01-18T18:34:03 |
{"mesh": ["D011657"], "umls": ["C0242459"], "icd-9": ["518.3"], "orphanet": ["724"], "wikidata": ["Q32552"]}
|
Rasmussen encephalitis is a chronic inflammatory neurological disease that usually affects only one hemisphere of the brain. It most often occurs in children under the age of 10, although adolescents and adults may also be affected. Rasmussen encephalitis is characterized by frequent and severe seizures, loss of motor skills and speech, paralysis on one side of the body (hemiparesis), inflammation of the brain (encephalitis), and mental deterioration. While the cause of Rasmussen encephalitis is unknown, there is evidence that in many patients it is an autoimmune disorder. Immune therapy and surgery may be used for 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
|
Rasmussen encephalitis
|
c0393484
| 25,182 |
gard
|
https://rarediseases.info.nih.gov/diseases/7527/rasmussen-encephalitis
| 2021-01-18T17:58:00 |
{"mesh": ["D004660"], "umls": ["C0393484"], "synonyms": ["RE"]}
|
Cervical polyp
Cervical polyp on ultrasound
SpecialtyGynecology
A cervical polyp is a common benign polyp or tumour on the surface of the cervical canal.[1] They can cause irregular menstrual bleeding but often show no symptoms. Treatment consists of simple removal of the polyp and prognosis is generally good. About 1% of cervical polyps will show neoplastic change which may lead to cancer. They are most common in post-menarche, pre-menopausal women who have been pregnant.
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 3.1 Structure
* 4 Treatment
* 5 Prognosis
* 6 Epidemiology
* 7 See also
* 8 References
* 9 External links
## Signs and symptoms[edit]
Cervical polyps often show no symptoms.[2] Where there are symptoms, they include intermenstrual bleeding, abnormally heavy menstrual bleeding (menorrhagia), vaginal bleeding in post-menopausal women, bleeding after sex and thick white vaginal or yellowish discharge (leukorrhoea).[3][4][5][6]
## Cause[edit]
The cause of cervical polyps is uncertain, but they are often associated with inflammation of the cervix.[7] They may also occur as a result of raised levels of estrogen or clogged cervical blood vessels.[3]
## Diagnosis[edit]
Cervical polyps can be seen during a pelvic examination as red or purple projections from the cervical canal.[3] Diagnosis can be confirmed by a cervical biopsy which will reveal the nature of the cells present.[3]
### Structure[edit]
Cervical polyps are finger-like growths, generally less than 1 cm in diameter.[3][4] They are generally bright red in colour, with a spongy texture.[2] They may be attached to the cervix by a stalk (pedunculated) and occasionally prolapse into the vagina where they can be mistaken for endometrial polyps or submucosal fibroids.[4]
## Treatment[edit]
Cervical polyps can be removed using ring forceps.[8] They can also be removed by tying surgical string around the polyp and cutting it off.[3] The remaining base of the polyp can then be removed using a laser or by cauterisation.[3] If the polyp is infected, an antibiotic may be prescribed.[3]
## Prognosis[edit]
99% of cervical polyps will remain benign and 1% will at some point show neoplastic change.[9] Cervical polyps are unlikely to regrow.[3]
## Epidemiology[edit]
Cervical polyps are most common in women who have had children and perimenopausal women.[2] They are rare in pre-menstrual girls and uncommon in post-menopausal women.[6]
## See also[edit]
* Endometrial polyp
## References[edit]
1. ^ Boon, Mathilde E.; Albert J. H. Suurmeijer (1996). The Pap Smear. Taylor & Francis. p. 87. ISBN 3-7186-5857-7.
2. ^ a b c Zuber, Thomas J.; E. J. Mayeaux (2004). Atlas of Primary Care Procedures. Lippincott Williams & Wilkins. pp. 254–256. ISBN 0-7817-3905-5.
3. ^ a b c d e f g h i Smith, Melanie N. (2006-05-10). "Cervical polyps". MEDLINE. Retrieved 2007-11-05.
4. ^ a b c Bates, Jane (1997). Practical Gynaecological Ultrasound. Cambridge University Press. p. 77. ISBN 1-900151-51-0.
5. ^ Papadakis, Maxine A.; Stephen J. McPhee; Roni F. Zeiger (2005). Current Consult Medicine 2006. McGraw-Hill Professional. p. 60. ISBN 0-07-145892-1.
6. ^ a b Bosze, Peter; David M. Luesley (2004). Eagc Course Book on Colposcopy. Informa Health Care. p. 66. ISBN 963-00-7356-0.
7. ^ "Cervical Polyps" (PDF). Doncaster and Bassetlaw Hospitals (NHS). Archived from the original (PDF) on 2007-02-07. Retrieved 2007-10-21.
8. ^ Moore, Anne (2001-09-20). "How Should I Treat Postcoital Bleeding in a Premenopausal Patient?". Medscape.com. Retrieved 2007-10-21.
9. ^ Tillman, Elizabeth. "Short Instructor Materials" (PDF). Centers for Disease Control and Prevention. Archived from the original on 2006-04-23. Retrieved 2007-10-21.CS1 maint: bot: original URL status unknown (link)
## External links[edit]
Classification
D
* ICD-10: N84.1
* ICD-9-CM: 219
* DiseasesDB: 2314
External resources
* MedlinePlus: 001494
* v
* t
* e
Female diseases of the pelvis and genitals
Internal
Adnexa
Ovary
* Endometriosis of ovary
* Female infertility
* Anovulation
* Poor ovarian reserve
* Mittelschmerz
* Oophoritis
* Ovarian apoplexy
* Ovarian cyst
* Corpus luteum cyst
* Follicular cyst of ovary
* Theca lutein cyst
* Ovarian hyperstimulation syndrome
* Ovarian torsion
Fallopian tube
* Female infertility
* Fallopian tube obstruction
* Hematosalpinx
* Hydrosalpinx
* Salpingitis
Uterus
Endometrium
* Asherman's syndrome
* Dysfunctional uterine bleeding
* Endometrial hyperplasia
* Endometrial polyp
* Endometriosis
* Endometritis
Menstruation
* Flow
* Amenorrhoea
* Hypomenorrhea
* Oligomenorrhea
* Pain
* Dysmenorrhea
* PMS
* Timing
* Menometrorrhagia
* Menorrhagia
* Metrorrhagia
* Female infertility
* Recurrent miscarriage
Myometrium
* Adenomyosis
Parametrium
* Parametritis
Cervix
* Cervical dysplasia
* Cervical incompetence
* Cervical polyp
* Cervicitis
* Female infertility
* Cervical stenosis
* Nabothian cyst
General
* Hematometra / Pyometra
* Retroverted uterus
Vagina
* Hematocolpos / Hydrocolpos
* Leukorrhea / Vaginal discharge
* Vaginitis
* Atrophic vaginitis
* Bacterial vaginosis
* Candidal vulvovaginitis
* Hydrocolpos
Sexual dysfunction
* Dyspareunia
* Hypoactive sexual desire disorder
* Sexual arousal disorder
* Vaginismus
* Urogenital fistulas
* Ureterovaginal
* Vesicovaginal
* Obstetric fistula
* Rectovaginal fistula
* Prolapse
* Cystocele
* Enterocele
* Rectocele
* Sigmoidocele
* Urethrocele
* Vaginal bleeding
* Postcoital bleeding
Other / general
* Pelvic congestion syndrome
* Pelvic inflammatory disease
External
Vulva
* Bartholin's cyst
* Kraurosis vulvae
* Vestibular papillomatosis
* Vulvitis
* Vulvodynia
Clitoral hood or clitoris
* Persistent genital arousal disorder
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Cervical polyp
|
c0007855
| 25,183 |
wikipedia
|
https://en.wikipedia.org/wiki/Cervical_polyp
| 2021-01-18T18:39:10 |
{"umls": ["C0007855"], "wikidata": ["Q5065349"]}
|
Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.
## Epidemiology
It is a rare form of NCL with only around 10 cases reported in the literature so far.
## Clinical description
Patients present with postnatal respiratory insufficiency, seizures immediately after birth and a lower than normal head circumference. The seizure activity may be noted before birth as unusually strong fetal movements.
## Etiology
CNCL is transmitted in an autosomal recessive manner and is caused by mutations in the CTSD gene (designated CLN10; 11p15.5) encoding the lysosomal enzyme cathepsin D.
## Diagnostic methods
Diagnosis is based on measurement of cathepsin D activity in cultures of skin fibroblasts or other tissues and autopsy findings (including neuron loss in the cerebral cortex, absence of myelin and the presence of autofluorescent storage bodies). The diagnosis can also be confirmed by identification of mutations in the CTSD gene.
## Differential diagnosis
The differential diagnosis should include brain malformations or inborn errors of metabolism associated with decreased brain size at birth (such as 3-phosphoglycerate dehydrogenase deficiency and phenylketonuria; see these terms).
## Antenatal diagnosis
Prenatal diagnosis is possible on the basis of enzymatic or molecular genetic testing.
## Genetic counseling
Genetic counseling should be provided to affected families.
## Management and treatment
There is no effective treatment for congenital NCL.
## Prognosis
The disorder leads to death within the first hours or 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
|
Congenital neuronal ceroid lipofuscinosis
|
c0027877
| 25,184 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=168486
| 2021-01-23T17:02:45 |
{"mesh": ["D009472"], "omim": ["610127"], "umls": ["C0027877", "C1864670"], "icd-10": ["E75.4"], "synonyms": ["Congenital NCL"]}
|
A rare genetic multiple congenital anomalies syndrome characterized by global developmental delay and intellectual disability with limited or absent speech development, microcephaly, cardiac anomalies, and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Variable genitourinary, gastrointestinal, musculoskeletal and/or ocular anomalies have also been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
|
c4225396
| 25,185 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=457193
| 2021-01-23T17:05:28 |
{"omim": ["616268"]}
|
A number sign (#) is used with this entry because idiopathic basal ganglia calcification-5 (IBGC5) is caused by heterozygous mutation in the PDGFB gene (190040) on chromosome 22q13.
Description
Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by Keller et al., 2013).
For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600).
Clinical Features
Kostic et al. (2011) reported a 4-generation Serbian family in which 6 individuals had symmetric brain calcifications ascertained by CT scan. Two individuals with brain calcifications were asymptomatic. The 4 other individuals developed neurologic symptoms between ages 22 and 55.4 years. The main clinical findings included parkinsonism, severe gait disturbances with freezing of gait, dyskinesia, and psychiatric manifestations. Brain perfusion single photon emission CT showed predominant hypoperfusion in the frontal cortex and the basal ganglia.
Keller et al. (2013) reported 6 unrelated families with IBGC, including the Serbian family described by Kostic et al. (2011). The mean age at symptom onset was 23.9 years (range 10 to 55 years), although at least 5 individuals with calcifications were asymptomatic, the oldest being 57 years of age. Twelve patients had motor signs, including dystonia/dyskinesias in 8, parkinsonism in 3, and chorea in 3, and 9 patients had cognitive impairment or psychiatric disease, such as psychosis, apathy, and depression. The most common symptom was migraine or headache, present in 13 patients. Brain imaging in all 31 mutation carriers showed calcification in the basal ganglia. Some patients also had calcification in other brain regions, including the thalamus, cerebellum, and cerebral and subcortical white matter.
Inheritance
The transmission pattern of IBGC5 in the families reported by Keller et al. (2013) was consistent with autosomal dominant inheritance.
Molecular Genetics
Keller et al. (2013) identified 6 different heterozygous putative loss-of-function mutations in the PDGFB gene (see, e.g., 190040.0003-190040.0007) in 6 (18.8%) of 13 families with idiopathic basal ganglia calcification-5. The initial mutations were found by genome or exome sequencing.
Animal Model
Keller et al. (2013) found that 4-month-old mice homozygous for a hypomorphic Pdgfb allele developed clusters of calcified nodules in the midbrain and thalamus. At age 1 year, mutant mice had more extensive calcification involving the basal forebrain, midbrain, and pons. The lesions were punctate and composed of calcium phosphate. Transgenic reexpression of 2 copies of wildtype endothelial Pdgfb in Pdgfb-null mice prevented the development of brain calcification, whereas reexpression of 1 copy of the rescue allele did not prevent calcification. The findings suggested that it is endothelial Pdgfb, rather than neuronal Pdgfb, that drives the pathology. Keller et al. (2013) postulated that the brain calcification may result from defects in pericytes and the blood-brain barrier.
INHERITANCE \- Autosomal dominant HEAD & NECK Mouth \- Orobuccal dyskinesia NEUROLOGIC Central Nervous System \- Motor disturbances \- Chorea \- Dyskinesia \- Parkinsonism \- Athetosis \- Cognitive impairment \- Dementia \- Dysarthria \- Migraine headache \- Motor tics \- Vertigo \- Dizziness \- Basal ganglia calcifications \- Calcification may occur in other brain regions, including cerebellum, thalamus, white matter Behavioral Psychiatric Manifestations \- Depression \- Apathy \- Anxiety \- Psychosis \- Executive dysfunction MISCELLANEOUS \- Mean age at onset 23.9 years (range 10 to 55 years) \- Progressive disorder \- Some patients may be asymptomatic MOLECULAR BASIS \- Caused by mutation in the platelet-derived growth factor, beta polypeptide gene (PDGFB, 190040.0003 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
|
c0393590
| 25,186 |
omim
|
https://www.omim.org/entry/615483
| 2019-09-22T15:51:56 |
{"doid": ["0060230"], "omim": ["615483"], "orphanet": ["1980"], "genereviews": ["NBK1421"]}
|
A subtype of cystinosis characterized by an accumulation of cystine in the organs and tissues, particularly in the kidneys and eyes, and that clinically manifests from infancy with renal Fanconi syndrome, photophobia, hypothyroidism, impaired growth and rickets, in addition to various other systemic effects. Progressive extra-renal manifestations include hypothyroidism, hypogonadism and male infertility, insulin-dependent diabetes, hepatosplenomegaly with portal hypertension, muscle involvement with distal muscle weakness and atrophy, pharyngeal and oral dysfunction, swallowing difficulties, cerebral involvement with hypotonia, speech and walking difficulties, and cerebellar syndrome.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Infantile nephropathic cystinosis
|
c3537440
| 25,187 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=411629
| 2021-01-23T17:50:13 |
{"gard": ["9755"], "mesh": ["C565655"], "omim": ["219800"], "umls": ["C3537440"], "icd-10": ["E72.0+", "N16.3*"]}
|
Iris cysts
Iris cysts are hollow cavities in the eye filled with secretion. They come in various sizes, numbers, shapes, pigments and can be free-floating, attached to the pupillary margin or within the posterior chamber.[1] Most frequently iris cysts don't cause any issues, but they can cause problems like: “fly biting” behavior, corneal endothelial pigment, lens capsular pigmentation, altered iris movement, decreased aqueous outflow with subsequent glaucoma or block the vision when grown to big.[1] They can be acquired or innate. Possible causes are inflammation, drug-induced, uveitis, a trauma, tumor-induced, parasitic or implantation.[2] Most frequently iris cysts are benign and need no treatment. Sometimes iris cysts are causing problems and need to be deflated. Iris cysts can be treated with trans corneal diode laser treatment, fine-needle aspiration or surgical excision.[1] For the treatment of iris cysts is a conservative approach favored.[2]
## Contents
* 1 Introduction
* 2 Brief overview of the anatomy of the iris
* 3 Primary cyst
* 4 Secondary cyst
* 5 Diagnosis
* 5.1 Clinical presentation
* 5.2 Ultrasound B-scan (USB)
* 5.3 Ultrasound biomicroscopy (UBM)
* 5.4 Anterior segment optical coherence tomography (AS-OCT)
* 5.5 Fine-needle aspiration (FNA)
* 5.6 Other ancillary procedures
* 6 Treatment options
* 6.1 Observation
* 6.2 Fine-needle aspiration
* 6.3 Intracystic injection of absolute alcohol
* 6.4 Antimitotic agents
* 6.5 Laser therapy
* 6.6 Surgical
* 6.7 The stepwise minimally invasive strategy
* 7 References
## Introduction[edit]
Mackenzie diagnosed the first iris cyst in 1830, which was a posttraumatic iris cyst in the anterior chamber.[2] Because of the wide variety of iris cysts, a categorization was needed. This categorization was proposed by Shields in 1981 and was based on 2 main groups: primary and secondary cyst. Primary cysts origin is neuroepithelial, and rarely causes any issue. Primary cysts can be subcategorized based on their location in the eye. However, secondary cysts can cause problems like decreased vision, secondary glaucoma, uveitis or corneal edema and origin from implantation, metastasis, miotics or parasites. Secondary cysts are further categorized based on their origin.[2]
## Brief overview of the anatomy of the iris[edit]
The iris is a thin circular structure in the eye which consists of two layers, on top is the stroma and underneath the pigmented epithelial cells. It separates the eye in the anterior and posterior chamber, is responsible for the eye's color, and its function is to regulate the size of the pupil. By controlling the size of the pupil it regulates the amount of light reaching the retina. Depending on the amount of light, the iris opens with high intensity light and closes with low intensity light.[3] The iris is able to control the size of the pupil due to radial and circular muscles which attach to the stroma. The circular muscle, sphincter muscle, contracts in a circular motion, making the pupil smaller, but by contracting the radial muscles, dilator muscles, the pupil enlarges.[4]
## Primary cyst[edit]
The classification of primary cysts is according to the categorization of Shields. The origin of primary cysts is neuroepithelial. Primary cysts are rarely causing any problems, fluid-filled and have smooth surfaces. They are subcategorized according to their location in the eye. Pupillary cysts, also central cysts, are located from the pupillary margin to the iris root, midzonal cysts are located from the iris root to the ciliary body, and peripheral cysts are located at the iridociliary sulcus. Free-floating cysts can occur in the anterior and vitreous chamber and are usually dislodged epithelium cysts.[2]
Cysts of the iris stroma are anteriorly located and as they develop, they usually cause deformation of the iris and need treatment. Especially the congenital secondary cysts require often treatment. They are usually unilateral and solitary. Acquired secondary cysts, on the other hand, require very rarely treatment and often occur at a later age.
## Secondary cyst[edit]
Secondary cysts are usually unilateral and solitary and have a smooth surface. Secondary cysts may obstruct the eye's vision, cause intraocular pressure or iris displacement. The categorization of secondary cysts is categorized according Shields categorization.[2] Secondary cysts are classified into 6 subcategories.
\- Implantation cysts are the most common secondary cysts. They can originate from a surgical trauma or a penetrating wound. An invasion of conjunctival or corneal epithelial cells creates the cyst.[5]
\- Drug-induced cysts are related with the use of miotics or latanoprost but can get smaller after stopping inducing the drug.[6]
\- Uveitic cysts can arise when the eye is or has been inflamed.[7]
\- Tumor-induced secondary cysts are caused by a tumor.[8]
\- The rarest iris cyst is the parasitic cyst, which can develop with the presence of a parasite.[2]
\- At last secondary cysts can be caused by a systematic disorder like: diabetes mellitus, Menkes syndrome or malignancies.[2]
## Diagnosis[edit]
Iris cyst must be differentiated from other kinds of possible “bodies” in the eye. After the body has been established as an iris cyst, it must be categorized as primary or secondary. It is necessary to differentiate secondary cysts even further. Clinical examination can achieve this differentiation with the use of multimodal imaging techniques like UBM, ultrasound B-scan (USB), anterior segment optical coherence tomography (as-OCT) and magnetic resonance imaging.[2]
### Clinical presentation[edit]
Primary cysts come in various sizes and number but are usually fluid-filled, with regular borders and a smooth surface. The iris could be slightly displaced anteriorly because of a primary cyst, but normally no problems occur with primary cysts. Secondary cysts cause most of the times problems, and thus also need treatment. Secondary cysts usually have a rough surface, irregular borders, solitary and unilateral. Possible problems could be displacement of the iris, iritis and raised intraocular pressure.[2]
A clinician should also be able to tell the difference between a cyst and a tumor. The main differences are that cysts usually cause displacement or the iris whereas a tumor arises and grows into the iris stroma. In the presence of an intrinsic or sentinel vessel than you probably have to deal with a tumor. The last main difference can be shown with transillumination, since transillumination always creates a shadow with a tumor but almost never with a cyst.[9]
### Ultrasound B-scan (USB)[edit]
Ultrasound B-scan (USB) uses wavelengths of 10-20 MHz to form an image of the eye. USB can be used to identify the extension of the iris cyst in either the anterior or posterior chamber. It can also be used to identify midzonal cysts behind the iris and to determine whether there is ciliary body involvement. The preferred method to determine ciliary body involvement, however, is not USB but ultrasound biomicroscopy.[2]
### Ultrasound biomicroscopy (UBM)[edit]
Ultrasound biomicroscopy, (UBM) has a higher resolution than USB and it also uses soundwaves with a higher frequency from 50 to 100 MHz. UBM is used for the identification of thin ultrastructure's and for internal echogenicity of cysts. Due to the high resolution small cysts can easily be distinguished, multilocated cysts are easy to find and it is easier to determine whether the cyst is bilateral. The only disadvantage of UBM is its limited penetration. Despite this disadvantage, UBM is still the golden standard for the diagnosis of iris cysts.[9][2]
### Anterior segment optical coherence tomography (AS-OCT)[edit]
AS-OCT has the highest resolution of all diagnosis methods but it has a major disadvantage. AS-OCT creates a heavy shadowing caused by the iris pigment epithelium regarding iris lesions. AS-OCT is used to show the anterior border of an iris lesion. The internal structure of the cyst and what is behind the cyst, however, is not that clear due to heavy shadowing. That is why UBM is preferred over AS-OCT, the borders will be less visible but with UBM the whole structure of the cyst and the surrounding tissues is shown.[9][2]
### Fine-needle aspiration (FNA)[edit]
Fine-needle aspiration, FNA, is only used if every other method has failed to establish what kind of cyst it is and if it is presumably a solid tumor. FNA is used as a last diagnosis method because it is the most invasive method since the eye has to be penetrated with a needle. FNA has been very successful with differentiating tumors with cystic spaces, like melanomas, adenomas or metastatic tumors. FNA can also be used as a treatment.[2]
### Other ancillary procedures[edit]
MRI is not used as a diagnosis method by itself. It is more used as a method to gain some extra information about the cyst. Magnetic resonance imaging can establish very well whether the cyst is in contact or attached to the sclera or whether the cyst is a primary tumor.
## Treatment options[edit]
### Observation[edit]
The preferred treatment option is observation, since most iris cysts do not hurt or cause any pressure. A veterinarian however prefers to check the cyst from time to time to make sure that the cyst does not grow and does not cause any problems or pain. If the cyst is growing, causing pain or some issues over time, then the cyst will need another treatment.[10]
### Fine-needle aspiration[edit]
Fine-needle aspiration (FNA) is, as discussed earlier, also a diagnosis method but can also be used as a treatment. With FNA a very fine needle is inserted in the eye in the cyst. The purpose of the needle is to penetrate the membrane of the cyst, so that the cyst will deflate. This method has proven to be successful but there is a possibility that the cyst will not disappear fully but only shrink. If the cyst has shrunk enough that it is not causing any pain or trouble anymore, then a second treatment might not be necessary. But if the cyst is still causing an issue after the treatment, the treatment must be repeated, or another method has to be used.[2]
### Intracystic injection of absolute alcohol[edit]
Intracystic injection of absolute alcohol has proven to be a very effective method. The alcohol gets injected in the cyst through a needle which is penetrating the eye from outside into the cyst. The injection of the alcohol regresses the cyst or will at least stabilize it. It can take a few weeks before the cyst has disappeared fully. A common side effect of this method is an inflammation in the anterior chamber, but this can easily be treated with topical steroids (cream or gel with anti-inflammatory properties).[11][12]
### Antimitotic agents[edit]
Antimitotic agents are used mainly when a cyst is resistant to all other treatments apart from surgery, since surgery is the last resort. Antimitotic agents are injected into the cyst and left inside for 5 minutes; after 5 minutes the agents are rinsed out. Antimitotic agents have the side effect of creating a small inflammation which can easily be treated with topical steroids. Antimitotic agents stop the mitose of the cells of the cyst by interfering with a particular phase of the cell cycle, which stops the cyst from growing and will eventually kill the cells and thus the cyst.[2]
### Laser therapy[edit]
Laser therapy is a treatment which has to be repeated several times. The treatment gets repeated every week until the cyst is gone. Despite not having the highest success rate it is nowadays the most preferred treatment against iris cyst because it is the least invasive method since the eye doesn't need to be punctured or cut. Two kinds of laser beams can be used for laser therapy: thermal (diode or argon laser) and Nd:YAG laser. Sometimes both methods are combined for a better result since thermal laser can harden the cyst and stop the intracystic fluid production and Nd:YAG can perforate the cyst membrane and drain the cyst.[13][unreliable source?][2]
### Surgical[edit]
Surgery is considered to be the last resort because surgery has the highest chance at complications. The surgical approach depends on where the cyst is located, how big the cyst is and the number of cysts.
### The stepwise minimally invasive strategy[edit]
There are many options when treating an iris cyst. Mentioned above are the most used treatments but in the past there have been other methods but they haven't been successful enough to be still used today. A clinician has to consider a lot of things when choosing a treatment. The golden rule when treating iris cysts however is to choose the least invasive method. That means that cysts which are not causing any problems wil not be treated but observed. The least invasive treatment is laser therapy and is, therefore, also the preferred method to treat an iris cyst. Depending on the kind of cyst, the clinician will choose either antimitotic agents or AS-OCT, if laser has failed or if laser is not possible. It is unlike that FNA will be used due to its low potential for removing the cyst. Surgery is the most invasive method and the one with the highest chance of complications. That is why surgery is the last resort.[2]
## References[edit]
1. ^ a b c Davis, Rachel (Mathes) (July 2016). "Iris cysts - Canine". Animal eye clinic.
2. ^ a b c d e f g h i j k l m n o p q r Georgalas, Ilias; Petrou, Petros; Papaconstantinou, Dimitrios; Brouzas, Dimitrios; Koutsandrea, Chrysanthi; Kanakis, Menelaos (June 2018). "Iris cysts: A comprehensive review on diagnosis and treatment". Survey of Ophthalmology. 63 (3): 347–364. doi:10.1016/j.survophthal.2017.08.009. PMID 28882598.
3. ^ "Anatomy of the Eye".
4. ^ Custers, Edmund (December 2017). "Anatomy of the Eye: Human Eye Anatomy".
5. ^ Venkateswaran, Nandini; Ching, Steven S.T.; Fischer, William; Lee, Frank; Yeaney, Gabrielle; Hindman, Holly B. (August 2015). "The Diagnostic and Therapeutic Challenges of Posttraumatic Iris Implantation Cysts: Illustrative Case Presentations and a Review of the Literature". Case Rep Ophthalmol Med. 2015: 375947. doi:10.1155/2015/375947. PMC 4549539. PMID 26347837.
6. ^ Mohite, Abhijit Anand; Prabhu, Rangarajan V.; Ressiniotis, Thomas (October 2017). "Latanoprost Induced Iris Pigment Epithelial and Ciliary Body Cyst Formation in Hypermetropic Eyes". Case Reports in Ophthalmological Medicine. 2017: 9362163. doi:10.1155/2017/9362163. PMC 5651109. PMID 29119030.
7. ^ Gentile, Ronald C.; Liebmann, Jeffrey M.; Tello, Celso; Stegman, Zeev; Weissman, Scott S.; Ritch, Robert (October 1996). "Ciliary body enlargement and cyst formation in uveitis" (PDF). British Journal of Ophthalmology: 895–899.
8. ^ Shields, Carol L.; Shields, Patrick W.; Manalec, Janet; Jumroendararasame, Chaisiri; Shields, Jerry A. (September 2013). "Review of cystic and solid tumors of the iris". Oman J Ophthalmol. 6 (3): 159–64. doi:10.4103/0974-620X.122269. PMC 3872564. PMID 24379549.
9. ^ a b c Williams, Chandra; Manousakis, Eva; Marcus-Freeman, Susannah (15 April 2009). "Technology is key to iris lesion diagnosis". Review of Optomery. 4.
10. ^ Finger, Paul T. (2 December 2018). "Iris cysts". New York Eye Cancer Center.
11. ^ Shields, Carol L.; Arepalli, Sruthi; Lally, Erin B.; Lally, Sara E.; Shields, Jerry A. (June 2014). "Iris Stromal Cyst Management With Absolute Alcohol–Induced Sclerosis in 16 Patients". JAMA Ophthalmology. 132 (6): 703–8. doi:10.1001/jamaophthalmol.2014.160. PMID 24723076.
12. ^ Behrouzi, Zohreh; Khodadoust, Aliasghar (August 2003). "Epithelial iris cyst treatment with intracystic ethanol irrigation". Ophthalmology. 110 (8): 1601–1605. doi:10.1016/S0161-6420(03)00543-8. PMID 12917180.
13. ^ Enache, Andra; Boydell, Pip; Ionascu, Iuliana; Sonea, Alexandru (2 December 2018). "Laser treatment of iris cysts in a flat coated retriever" (PDF). Scientific Works. Series C. Veterinary Medicine. 60 (1): 47–52.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Iris cyst
|
c0271119
| 25,188 |
wikipedia
|
https://en.wikipedia.org/wiki/Iris_cyst
| 2021-01-18T18:42:45 |
{"wikidata": ["Q17115875"]}
|
Wolfram syndrome, which is also known by the acronym DIDMOAD, is an inherited condition characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), a gradual loss of vision caused by optic atrophy (OA), and deafness (D). Other symptoms may include bladder and bowel dysfunction, problems with the parts of the inner ear and brain that help control balance and eye movements (vestibular deficits), temperature regulation problems, decreased balance, uncoordinated (ataxic) gait and olfactory deficits. Also, psychiatric symptoms such as anxiety and depression have also been noted in some cases. There are two types of Wolfram syndrome (type 1 and type 2) which are primarily differentiated by their genetic cause. Type 1 is caused by changes (mutations) in the WFS1 gene, while type 2 is caused by mutations in the CISD2 gene. Both forms are inherited in an autosomal recessive manner. However, some cases of Wolfram syndrome type 1 have an autosomal dominant inheritance and are more severe. Diagnosis is suspected in cases of childhood-onset diabetes mellitus and optic atrophy, and this visual impairment is not due to the diabetes. Treatment is symptomatic and supportive.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Wolfram syndrome
|
c0043207
| 25,189 |
gard
|
https://rarediseases.info.nih.gov/diseases/7898/wolfram-syndrome
| 2021-01-18T17:57:05 |
{"mesh": ["D014929"], "omim": ["222300", "604928", "598500 "], "umls": ["C0043207"], "orphanet": ["3463"], "synonyms": ["WFS", "Diabetes insipidus and mellitus with optic atrophy and deafness", "DIDMOAD", "DIDMOAD syndrome"]}
|
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (July 2015)
Genitourinary amoebiasis or renal amoebiasis is a rare complication to amoebic liver abscess, which in turn is a complication of amoebiasis. It is believed to result from liver abscesses breaking open, whereupon the amoebas spread through the blood to the new locale. Genital involvement is thought to result from fistula formation from the liver or through rectocolitis. The involvement causes lesions which exude a high degree of pus.[1]
## References[edit]
1. ^ Farrar, Jeremy; Hotez, Peter; Junghanss, Thomas; Kang, Gagandeep; Lalloo, David; White, Nicholas J. (2013-10-26). Manson's Tropical Diseases. Elsevier Health Sciences. ISBN 9780702053061.
This article related to 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
|
Genitourinary amoebiasis
|
c2880108
| 25,190 |
wikipedia
|
https://en.wikipedia.org/wiki/Genitourinary_amoebiasis
| 2021-01-18T18:44:24 |
{"umls": ["C2880108"], "wikidata": ["Q25099368"]}
|
A number sign (#) is used with this entry because of evidence that leukonychia totalis and/or partialis, referred to here as nonsyndromic congenital nail disorder-3 (NDNC3), can be caused by homozygous or heterozygous mutation in the PLCD1 gene (602142) on chromosome 3p22-p21.3.
Description
A white appearance of the nails can result from whitening of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia), and can be due to a variety of factors including infectious, metabolic, or systemic diseases, trauma, or drugs. One of the rare causes of whitening of the nail plate is hereditary leukonychia (summary by Kiuru et al., 2011). Leukonychia may involve all of the nail (leukonychia totalis) or only part of the nail (leukonychia partialis), or can appear as one or more transverse bands (leukonychia striata) or white spots (leukonychia punctata).
For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).
Clinical Features
Sibley (1922) reported a 57-year-old woman with a 13-year history of psoriasis who presented with marked white bands on most of her fingernails, especially the thumbnails where some 6 distinct bands were observed. There were no bands on her toenails. The nails were smooth on the surface and did not show any other changes, although they had been affected by psoriasis in the past. The patient stated that the bands always appeared at the base of the nail and gradually grew up to the free end. Her hair was normal, and she was edentulous, having had all teeth removed at age 21 due to dental caries. The proband's maternal grandmother had similar bands, and several other family members were likewise affected. Her daughter was said to occasionally have small white bands on her nails; at the time of examination, there were only white spots present.
Becker (1930) described a 19-year-old man who had white transverse striations on his fingernails for as long as he could remember. The stripes started at the lunula and progressed with the growth of the nail, with a new stripe starting every week or so. A varying number of nails were affected each time, but the thumbs tended to be involved most regularly. No subjective sensations had been noted, and the surface of the nails had always been smooth. Hair, skin, and teeth were normal. No other family members were affected. Examination showed broad transverse striations at various distances from the lunula on all nails, which had a normal surface. Microscopic examination of the white portion of a nail revealed an abnormal stripe about midway between the inner and outer surfaces. The cells were larger than normal, the nuclei more prominent, and both nuclei and cells took only acid stains. Staining was more intense than in other cells, and this portion appeared more opaque. In some portions, keratohyaline granules were seen in cells immediately toward the surface from this stripe. Becker (1930) concluded that the process was one of abnormal keratinization.
Kruse et al. (1951) reported a 25-year-old man of Italian descent with leukonychia totalis who had porcelain-white nails of both hands and both feet since shortly after birth. The nails were otherwise normal in shape, surface, and thickness, and he had no other physical abnormalities. His father and 2 paternal uncles were said to have the same condition of the nails, but were not available for study.. Kruse et al. (1951) commented that microscopic examination of hematoxylin and eosin-stained nail sections yielded results that were identical to those described by Becker (1930).
Medansky and Fox (1960) described white nails in 14 members of 5 generations of a family. Examination of a mother, her 4 affected sons, and an affected grandson showed that the nails of all fingers and toes were porcelain white and the lunula could not be distinguished. The nails were not brittle and the edges were not frayed; the thickness appeared to be average, and no grooves or other irregularities were observed. The white nails were present since birth in all, and no other physical abnormalities were present.
Albright and Wheeler (1964) described a mother with leukonychia totalis who had 2 daughters with leukonychia partialis. The 59-year-old mother had had white nails for as long as she could remember; all 10 fingernails were completely white with no lunula visible, and the nails were of normal thickness and texture. Four of her toenails (2 on each foot) were completely white, and the remaining toenails had the thickened, yellow-opaque appearance of mycotic infection. Her hair and teeth were normal. Her 39-year-old daughter had partially white nails all her life. Examination showed that all of her fingernails and toenails were abnormally white proximally, with a distinct sharp 2- to 4-mm transverse band of normal pink nail bed distally. The free edge of the nail was of normal white color. The lunula was faintly visible in the thumb, index, and middle fingers, and the nails were of normal texture. Her hair was normal; teeth had previously been extracted. Another daughter, 35 years old, also had partially white nails since childhood; her nails were exactly as described for her sister except for some distal onycholysis of her left index finger. She had no abnormalities of hair or teeth. The proband's 41-year-old son and a granddaughter and grandson, the children of her older daughter, were said to have normal nails.
Higashi et al. (1971) described 2 unrelated individuals who had leukonychia striata longitudinalis, in which a longitudinal white streak persisted in a fingernail for several years. One was a 29-year-old Japanese woman with a longitudinal white streak of her right middle finger for 9 years. Histologic examination of the nail plate showed abnormal cornified cells accompanied by parakeratotic hyperplasia of the nail bed epidermis. The second patient was a 31-year-old Japanese man with longitudinal leukonychia of the left thumbnail; histology showed parakeratotic hyperplasia of the nail bed epidermis upwards into the nail plate, in the absence of any abnormal cornified cells in the nail plate.
Bushkell and Gorlin (1975) found leukonychia totalis associated with multiple sebaceous cysts (see 184500) and renal calculi in grandfather, father, and son, and some of these features in 2 other relatives. Koilonychia (149300) was also found in 3 of the affected persons.
Butterworth (1982) described a 59-year-old man with phenylketonuria who was first diagnosed with leukonychia as part of a dermatologic survey of institutionalized patients in 1934. His father was said to have had similar completely white nails. Butterworth (1982) stated that in following the patient over a period of almost 5 decades, seeing him at least weekly in the institution, he noted that on some occasions the patient's nails assumed a normal color. Then, after a period of weeks or months, whiteness would appear in the nails at the cuticles and gradually spread distally until all of the nails were porcelain-like. At times, the proximal portions of the nails were white with a distal pink transverse band, 2 or 3 mm wide, at the free edge. Butterworth (1982) concluded that the 2 types of leukonychia seen in this patient were the result of 1 basic genetic defect in keratinization, stating that in patients with leukonychia totalis, the defect persists for the entire length of the nail plate, whereas in leukonychia partialis, delayed keratinization of the nail becomes complete by the time the nail plate reaches the end of the nail bed. The author noted that faulty keratinization need not be permanent, and that he had observed several patients in whom the nails at times assumed a natural pink color. In addition, Butterworth (1982) cited the patient of Harrington (1964), who was reported to have leukonychia totalis of all fingernails except for those of the right thumb and middle finger, which, along with all of the toenails, displayed leukonychia partialis with the distal third being pink.
Friedel et al. (1986) reported a 24-year-old woman who had leukonychia totalis of all 20 nails, most of which also showed koilonychia. She also had multiple trichilemmal cysts (see 609649) and short eyelashes that were irregular in size and in implantation and were associated with blepharitis, tearing, conjunctival irritation, and photophobia. Her 25-year-old sister had leukonychia totalis of all nails, occasionally sparing the distal nail, and blepharitis, but did not have trichilemmal cysts. Neither sister had palmoplantar keratoderma or anomalies of the teeth or hair. Family history revealed the presence of leukonychia totalis in 9 additional family members, segregating in an autosomal dominant fashion over 4 generations; none of these family members were reported to have blepharitis or trichilemmal cysts.
Bettoli and Tosti (1986) reported a 17-year-old boy who had leukonychia totalis at birth, but in whom several bands of normal pink color had appeared over the years. At the time of examination, the second and third fingers of both hands showed total leukonychia, whereas the first and fourth fingers showed partial leukonychia and the fifth fingernails on both hands were completely normal in color. The patient was otherwise in good health; potassium hydroxide preparations and cultures of nail scrapings were negative. His paternal grandmother and a paternal aunt were affected with the same kind of nail discoloration; the patient stated that his grandmother had leukonychia totalis at birth but that it had completely resolved by the time of her death, and that both leukonychia totalis and partialis had been present simultaneously during the course of her life. His 24-year-old affected aunt presented the same clinical picture as the proband and showed a similar progression of disease. Bettoli and Tosti (1986) stated that these findings supported the assumption of Butterworth (1982) that leukonychia partialis might be a phase of leukonychia totalis.
Mahler et al. (1987) reported a 51-year-old woman with striate leukonychia involving the entire first toenail and half of the second toenail of both feet; the fourth toenail on both feet showed minimal punctate leukonychia. No nail changes were present on the hands. The pattern of the involved nails was striking, with regular alternating transverse bands of white and normal nail, less than 1 mm wide, along the entire length of the nail. The patient stated that she became aware of the nail abnormalities sometime before the age of 5 years but was not certain whether or not they were present at birth. Microscopic examination of transverse sections of an affected nail showed a uniform band of parakeratosis on the ventral aspect of the nail plate; Mahler et al. (1987) noted that these findings were similar to those of Higashi et al. (1971). Mahler et al. (1987) further noted that the peculiar distribution of leukonychia in their patient had not previously been reported, and that the extreme regularity of the narrow white bands contrasted with the irregular appearance of the majority of cases of hereditary or acquired leukonychia striata.
Grossman and Scher (1990) provided a review and classification of leukonychia.
Kohler et al. (1998) reported 2 brothers with isolated leukonychia totalis. No other family members in 3 generations were affected; the parents were not consanguineous. The authors suggested spontaneous somatic mutation in one of the parents, which was autosomally transmitted with a gonadal mosaicism, as a possible mode of transmission. Grosshans (1998) questioned whether all the keratinizing adnexal structures had been thoroughly examined in the sibs reported by Kohler et al. (1998). Kohler et al. (1998) responded that there were no signs or symptoms of any associated ectodermal dysplasia in either brother.
Stevens et al. (1998) reported autosomal dominant inheritance of leukonychia totalis with incomplete penetrance in 5 members of a family over 3 generations. Additional reported nail findings included koilonychia of both thumbs and painful detachments at the onychodermal band on several digits in 2 of those affected. There was no evidence of systemic disease.
De and Handa (2007) reported a man with leukonychia totalis and diabetes mellitus. The man stated that his nails had been white ever since he could remember and that his maternal grandfather, mother, 2 of 4 sibs, and 2 of his 3 offspring had a similar nail condition. No other family member had diabetes.
Kiuru et al. (2011) studied 4 Pakistani families with congenital hereditary leukonychia, 2 of which were consanguineous and consistent with recessively inherited leukonychia, and 2 demonstrating dominant inheritance. All 20 nails of each affected individual were chalky white, consistent with total leukonychia, although some nails displayed incomplete leukonychia with translucency and yellowish discoloration in the distal parts of the nail plate. No other skin or hair anomalies or systemic findings were detected, and there was no family history of malignancy.
Pathogenesis
Albright and Wheeler (1964) stated that leukonychia was generally believed to be due to abnormal keratinization, which was demonstrated by the presence of large nucleated cells and keratohyaline granules in the white area of the nail plate. Thus, a severe defect could allow the persistence of a large number of immature nail cells for the entire length of the nail plate, resulting in leukonychia totalis, whereas a less severe defect could cause marked delay in maturation of keratinizing cells, so that by the time the nail plate reached the distal end of the nail bed, keratinization would be complete or nearly so, resulting in proximal leukonychia with normal appearing distal nail, as seen in leukonychia partialis. Albright and Wheeler (1964) noted that this would be in keeping with the observations of Mitchell (1953), who stated that about half of leukonychial spots he followed disappeared during their progress to the free edge of the nail.
Clinical Management
Kohler et al. (1998) stated that there is no known successful treatment for leukonychia totalis; however, they noted that the 2 brothers they reported 'were proud of their special condition; the nails were fluorescent in UV-light in discotheques, exerting a certain influence on interested women.'
Inheritance
Father-to-son transmission of leukonychia totalis (e.g., Kruse et al., 1951) indicate autosomal dominant inheritance.
Frydman and Cohen (1993) observed leukonychia totalis in a brother and sister with unaffected consanguineous Arab parents, suggesting autosomal recessive inheritance.
Both autosomal dominant and autosomal recessive forms of the disorder were confirmed by Kiuru et al. (2011).
Mapping
In a consanguineous Pakistani family segregating autosomal recessive leukonychia, Kiuru et al. (2011) performed genomewide autozygosity mapping and identified a region of excess homozygosity shared among affected individuals on chromosome 3p22-p21.3 with a lod score of 5.1. Microsatellite markers spanning the region of autozygosity were analyzed in 3 more Pakistani families with leukonychia, 1 consanguineous and 2 consistent with dominant inheritance, and all 3 showed linkage to the same location. Key recombination events narrowed the interval to 2.0 Mb flanked by markers D3S1483 and D3S1260.
Molecular Genetics
In affected members of 4 Pakistani families with leukonychia totalis mapping to chromosome 3p22-21.3, 2 of which demonstrated autosomal recessive inheritance and 2 of which were consistent with autosomal dominant inheritance, Kiuru et al. (2011) analyzed candidate genes and identified homozygosity or heterozygosity for nonsense, splice site, and missense mutations in the PLCD1 gene (602142.0001-602142.0004). None of the mutations were found in 130 unrelated population-matched controls. Kiuru et al. (2011) noted that the phenomenon of recessive and dominant mutations in the same gene resulting in a similar phenotype is rare.
INHERITANCE \- Autosomal dominant \- Autosomal recessive SKIN, NAILS, & HAIR Nails \- Leukonychia totalis \- Leukonychia partialis \- Leukonychia striata \- Leukonychia punctata MISCELLANEOUS \- Variable number of nails involved \- Nails may be intermittently involved MOLECULAR BASIS \- Caused by mutation in the delta-1 phospholipase C gene (PLCD1, 602142.0001 ) ▲ 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
|
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3
|
c0544855
| 25,191 |
omim
|
https://www.omim.org/entry/151600
| 2019-09-22T16:39:03 |
{"doid": ["0080081"], "mesh": ["C535889"], "omim": ["151600"], "orphanet": ["2387"], "synonyms": ["Alternative titles", "LEUKONYCHIA TOTALIS AND/OR PARTIALIS", "PORCELAIN NAILS"]}
|
Leigh syndrome is a rare, inherited neurodegenerative condition. It usually becomes apparent in infancy, often after a viral infection. Rarely, it begins in the teenage or adult years. Signs and symptoms usually progress rapidly. Early symptoms may include poor sucking ability; loss of head control and motor skills; loss of appetite; vomiting; and seizures. As the condition progresses, symptoms may include weakness and lack of muscle tone; spasticity; movement disorders; cerebellar ataxia; and peripheral neuropathy. Complications can lead to impairment of respiratory, heart and kidney function. The term "Leigh-like syndrome" is often used for people with features that are strongly suggestive of Leigh syndrome but who do not meet the diagnostic criteria.
The inheritance of Leigh syndrome depends on where the responsible gene is located in each case. This is because it can be due to mutations in either mitochondrial DNA or nuclear DNA:
* Mitochondrial DNA-associated Leigh syndrome follows a mitochondrial inheritance pattern (also called maternal inheritance).
* Nuclear gene-encoded Leigh syndrome may be inherited in an autosomal recessive or X-linked manner.
Treatment is based on the symptoms present and depends on the type of Leigh syndrome a person has. While life expectancy depends on the cause of Leigh syndrome in each person, most do not survive past mid-childhood or adolescence.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Leigh syndrome
|
c0023264
| 25,192 |
gard
|
https://rarediseases.info.nih.gov/diseases/6877/leigh-syndrome
| 2021-01-18T17:59:29 |
{"mesh": ["D007888"], "omim": ["256000"], "icd-10": ["G31.8"], "orphanet": ["506"], "synonyms": ["LS", "Subacute necrotizing encephalopathy", "SNE", "Necrotizing encephalopathy infantile subacute of Leigh", "Leigh's necrotizing encephalopathy", "Leigh's disease", "Infantile subacute necrotizing encephalopathy", "Leigh disease"]}
|
Ichthyosis en confetti
Other namesIchthyosis with confetti, Congenital reticular ichthyosiform erythroderma and Ichthyosis variegata,[1]
Ichthyosis with confetti is inherited in an autosomal dominant manner
SpecialtyDermatology
Ichthyosis en confetti, is a very rare form of congenital ichthyosis in which healthy patches of normal skin co-exist within the abnormal skin areas.[2] The condition is caused by a frameshift mutation in the keratin 10 gene (KRT10);[3] mutant keratin 10 accumulates in the nucleolus, a sub-nuclear structure, rather than within cellular intermediate filaments like the wild-type protein. Children with the condition exhibit red, flaky skin; however, for reasons not yet totally clear, wild type clonal patches of skin start to appear, in place of the red, flaky skin. Due to the clonal nature of the growth of the normal skin cells, it appears the patient is covered with confetti, hence the name of the condition.[3] It has been hypothesized that this is the result of a combination of mitotic recombination and natural selection within the skin.[4]
## See also[edit]
* List of cutaneous conditions caused by mutations in keratins
* List of cutaneous conditions
## References[edit]
1. ^ Krunic, A. L.; Palcesky, D.; Busbey, S.; Medenica, M. (2003). "Congenital reticular ichthyosiform erythroderma--ichthyosis variegata: a case report and review of the literature". Acta Dermato-venereologica. 83 (1): 36–39. doi:10.1080/00015550310002684. PMID 12636020.
2. ^ Callaway, E. (2010). "The skin disease that cures itself". Nature. doi:10.1038/news.2010.434.
3. ^ a b Kretzschmar, Kai; Watt, Fiona M. (2012). "Lineage Tracing". Cell. 148 (1–2): 33–45. doi:10.1016/j.cell.2012.01.002. PMID 22265400.
4. ^ Choate, K. A.; Lu, Y.; Zhou, J.; Choi, M.; Elias, P. M.; Farhi, A.; Nelson-Williams, C.; Crumrine, D.; Williams, M. L.; Nopper, A. J.; Bree, A.; Milstone, L. M.; Lifton, R. P. (2010). "Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10". Science. 330 (6000): 94–97. Bibcode:2010Sci...330...94C. doi:10.1126/science.1192280. PMC 3085938. PMID 20798280.
## External links[edit]
Classification
D
* OMIM: 609165
* MeSH: C563781
External resources
* Orphanet: 281190
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
|
Ichthyosis with confetti
|
c3665704
| 25,193 |
wikipedia
|
https://en.wikipedia.org/wiki/Ichthyosis_with_confetti
| 2021-01-18T18:55:26 |
{"mesh": ["C563781"], "umls": ["C3665704"], "orphanet": ["281190"], "wikidata": ["Q5986449"]}
|
A number sign (#) is used with this entry because of evidence that primary pulmonary hypertension-3 (PPH3) is caused by heterozygous mutation in the CAV1 gene (601047) on chromosome 7q31.
For a general phenotypic description and a discussion of genetic heterogeneity of primary pulmonary hypertension, see PPH1 (178600).
Clinical Features
Austin et al. (2012) reported a 3-generation family in which 6 individuals were diagnosed with primary pulmonary hypertension between ages 4 and 67 years. One patient died at age 4 years. Affected members in the later generations showed earlier onset than those in the earlier generations. An unrelated girl with the disorder was also described. She was diagnosed with PPH at age 15 months, and lung biopsy showed medial thickening of the pulmonary arteries with persistent muscularization in the small peripheral arteries.
Inheritance
The transmission pattern of primary pulmonary hypertension in the family reported by Austin et al. (2012) was consistent with autosomal dominant inheritance and incomplete penetrance.
Molecular Genetics
In affected members of a 3-generation family with autosomal dominant primary pulmonary hypertension, Austin et al. (2012) identified a heterozygous truncating mutation in the CAV1 gene (601047.0002). The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in several large exome control databases or in 1,000 ethnically matched controls. Several unaffected family members also carried the mutation, indicating incomplete penetrance. CAV1 protein levels were decreased in patient fibroblasts compared to controls. Sequencing this gene in 260 additional patients with the disorder identified a de novo truncating mutation (601047.0003) in 1 patient with onset in infancy, suggesting that it is a rare cause of the disorder. Lung tissue from this patient showed decreased CAV1 expression. Austin et al. (2012) suggested that both mutations may disrupt anchorage of caveolae to the plasma membrane. The findings highlighted the importance of caveolae in the homeostasis of pulmonary vasculature.
Animal Model
Cav1-knockout mice develop pulmonary hypertension. Drab et al. (2001) found that the lungs of Cav1-knockout mice displayed thickening of alveolar septa caused by uncontrolled endothelial cell proliferation and fibrosis, resulting in severe physical limitations.
Zhao et al. (2002) found that mice deficient in the Cav1 gene had no caveolae structures in several nonmuscle cell types. Although the homozygous-null mice were viable, histologic examination and echocardiography identified a spectrum of characteristics of dilated cardiomyopathy in the left ventricular chamber of the Cav1-deficient hearts, including an enlarged ventricular chamber diameter, thin posterior wall, and decreased contractility. These animals also had marked right ventricular hypertrophy, suggesting a chronic increase in pulmonary artery pressure. Direct measurement of pulmonary artery pressure and histologic analysis revealed that the homozygous-null mice exhibited pulmonary hypertension, which may have contributed to the right ventricle hypertrophy. In addition, the loss of Cav1 led to a dramatic increase in systemic nitric oxide levels.
Zhao et al. (2009) showed that pulmonary vascular remodeling and pulmonary hypertension in Cav1 -/- mice resulted from elevated Nos3 (163729) activity. Treatment of Cav1 -/- mice with either a superoxide scavenger activation or a NOS inhibitor reversed the phenotype. In Cav1 -/- mice, Nos3 resulted in impaired Pkg (PRKG1; 176894) activity through tyrosine nitration, and overexpression of Pkg countered the pulmonary hypertension in Cav1 -/- mice. Examination of lung tissue from patients with pulmonary arterial hypertension revealed elevated NOS3 activity, decreased CAV1 expression, and increased tyrosine nitration of PKG with concomitant compensatory elevation in PKG expression, recapitulating the observations in mice.
INHERITANCE \- Autosomal dominant CARDIOVASCULAR Vascular \- Increased pulmonary artery pressure \- Increased pulmonary vascular resistance \- Pulmonary artery vascular wall remodeling \- Pulmonary arteries show medial hypertrophy RESPIRATORY \- Dyspnea MISCELLANEOUS \- One family and 1 unrelated patient have been reported (last curated July 2013) \- Variable age at onset (range infancy to adulthood) \- Incomplete penetrance MOLECULAR BASIS \- Caused by mutation in the caveolin-1 gene (CAV1, 601047.0002 ) ▲ 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
|
PULMONARY HYPERTENSION, PRIMARY, 3
|
c4552070
| 25,194 |
omim
|
https://www.omim.org/entry/615343
| 2019-09-22T15:52:30 |
{"doid": ["14557"], "mesh": ["D065627"], "omim": ["178600", "615343"], "icd-10": ["I27.0"], "orphanet": ["422"], "synonyms": [], "genereviews": ["NBK1485"]}
|
A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-2B (CMD2B) is caused by homozygous mutation in the GATAD1 gene (614518) on chromosome 7q21. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy (CMD), see 115200.
Clinical Features
Theis et al. (2011) studied a consanguineous family of Norwegian ancestry segregating autosomal recessive dilated cardiomyopathy. The proband was a 74-year-old woman who presented at age 50 with heart failure and cardiomegaly; echocardiography was diagnostic for CMD. Left ventricular endomyocardial biopsy showed moderate myocyte hypertrophy, mild focal interstitial fibrosis, and mild diffuse endocardial fibrosis, consistent with chronic cardiomyopathy. At the time of evaluation, she had New York Heart Association class II heart failure with moderate to severe left ventricular enlargement and an ejection fraction of 25%. A 76-year-old sister was diagnosed at age 53; she underwent pacemaker implantation for persistent atrial fibrillation. She remained in class II heart failure 23 years after diagnosis, with mild left ventricular enlargement and an ejection fraction of 40%. At age 57, a brother was given a diagnosis of idiopathic left ventricular enlargement, and was confirmed to have CMD on follow-up echocardiogram 3 years later. At age 68, he had cardiomegaly and a borderline ejection fraction of 50%; he died of cancer at age 73. Their parents were first cousins who died at ages 91 and 76 years, with no apparent heart disease. The remaining 6 sibs, aged 55 to 81 years, had completely normal echocardiograms and none developed heart failure over 4 to 22 years of follow-up; similarly, CMD was excluded in the 8 children of the affected individuals, and none developed CMD in over 20 years of follow-up.
Mapping
In a consanguineous family of Norwegian ancestry segregating autosomal recessive dilated cardiomyopathy, Theis et al. (2011) performed genomewide linkage analysis and identified a locus on chromosome 7q21 with a peak multipoint lod score of 3.1 between markers D7S669 and D7S515. Haplotype analysis revealed homozygosity for 2 adjacent short tandem repeats in the 3 affected sibs but none of the 6 unaffected sibs, and flanking markers defined a 24-Mb region encompassing 258 genes. High-density homozygosity mapping narrowed the critical interval to a 7.3-Mb region containing 61 candidate genes.
Inheritance
The transmission pattern of dilated cardiomyopathy in the family reported by Theis et al. (2011) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 2 affected sisters from a consanguineous family of Norwegian ancestry segregating autosomal recessive dilated cardiomyopathy mapping to chromosome 7q21, Theis et al. (2011) performed whole-exome sequencing, followed by an iterative filtering process, and identified a homozygous missense mutation in the GATAD1 gene (614518.0001); analysis of the exome sequencing data did not show any homozygous mutations in the more than 30 genes previously associated with CMD. Their deceased affected brother was also homozygous for the mutation, but their 6 unaffected sibs were either heterozygous or homozygous for the wildtype allele, which was not found in 474 controls of similar ancestry with normal echocardiograms. Screening of GATAD1 in an additional 273 probands with CMD did not reveal any mutations.
INHERITANCE \- Autosomal recessive CARDIOVASCULAR Heart \- Cardiomyopathy, dilated \- Decreased ejection fraction \- Heart failure \- Atrial fibrillation (in some patients) \- Interstitial fibrosis, focal, mild \- Endocardial fibrosis, diffuse, mild \- Myocyte hypertrophy \- Globular morphology of myocyte nuclei MOLECULAR BASIS \- Caused by mutation in the GATA zinc finger domain-containing protein-1 gene (GATAD1, 614518.0001 ) ▲ 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, 2B
|
c0340427
| 25,195 |
omim
|
https://www.omim.org/entry/614672
| 2019-09-22T15:54:35 |
{"doid": ["0110441"], "mesh": ["C536231"], "omim": ["614672"], "orphanet": ["154"]}
|
Most congenital deafness in children, especially of the profound type, is sensorineural deafness. Some cases of moderate to mild deafness are of the conductive type, but these are relatively rare. Congenital conductive hearing loss falls into 2 categories: the type with microtia and atresia of the auditory canals, and the type without anomalies of the external ears. Higashi et al. (1987) described a mother and daughter with unilateral hearing loss which was shown by exploratory tympanotomy in the daughter to be the result of a hypoplastic long crus of the incus whose tip had changed into fibrous tissue. The mother's father had bilateral hearing loss from youth. Higashi et al. (1987) suggested that there are 3 forms of ossicular malformations: (1) incudostapedial disconnection, the condition present in the family they reported; (2) stapes fixation; and (3) combined malformation. They suggested, furthermore, that these may be distinct entities since the different types are usually not found in the same family. Their review of reported cases was limited almost completely to Japanese cases. Unlike the family that they reported, familial cases were usually bilateral, whereas sporadic cases tended to be unilateral.
Conductive deafness due to ossicular abnormalities occurs in the Cushing type of symphalangism (185800), in the multiple synostosis syndrome (186500), with renal hypoplasia or aplasia (267400), and with Klippel-Feil deformity and absent vagina (601076).
Inheritance \- Autosomal dominant Ears \- Congenital conductive hearing loss \- Ossicular malformation \- Incudostapedial disconnection \- Stapes fixation ▲ 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
|
OSSICULAR MALFORMATIONS, FAMILIAL
|
c1833790
| 25,196 |
omim
|
https://www.omim.org/entry/165680
| 2019-09-22T16:37:03 |
{"mesh": ["C537142"], "omim": ["165680"]}
|
A number sign (#) is used with this entry because spondylocostal dysostosis-4 (SCDO4) is caused by homozygous or compound heterozygous mutation in the HES7 gene (608059) on chromosome 17p13.
For a general phenotypic description and a discussion of genetic heterogeneity of spondylocostal dysostosis (SCDO), see SCDO1 (277300).
Clinical Features
Sparrow et al. (2008) described a consanguineous family of Caucasian Mediterranean origin in which the proband was diagnosed prenatally with hydrocephalus and myelomeningocele, and at birth was found to have a bell-shaped, symmetric, and shortened thorax, lumbosacral myelomeningocele, ectopic and stenotic anus, and talipes. Radiologic examination showed shortening of the spine, with multiple and contiguous vertebral segmentation defects involving all spinal regions, but mainly the thoracic spine. The ribs had very crowded origins on the left side, and were irregularly aligned with variable points of fusion along their length on the right side. Neurogenic bladder was present, and cerebral CT scan showed Chiari II malformation. The unaffected parents were second cousins, and the proband had 2 healthy sibs.
Sparrow et al. (2010) reported a nonconsanguineous Italian family in which a sister and brother had spondylocostal dysostosis. Newborn radiographs of the sister showed multiple segmentation anomalies and rib fusions: there were 11 pairs of ribs bilaterally, with lateral fusion of the right first through fourth ribs, and posterior fusion of the left fifth and sixth ribs. She had a short trunk and short stature, and during the first year of life, her span was greater than her length. MRI at 21 years of age showed multiple segmentation anomalies in the cervical spine with butterfly and hemivertebrae; the arch of C1 was fused to C2 anteriorly, and some spinous processes were fused. Superior displacement of the odontoid process was seen, and the junction of the medulla and cervical spinal cord was angulated anteriorly. Magnetic resonance angiography showed a dominant right vertebral artery with hypoplasia of the left vertebral artery, which did not communicate with the basilar artery. At 23 years of age, pulmonary function testing revealed a forced vital capacity (FVC) and forced expiratory volume over 1 second (FEV1) that were decreased to almost one-half of predicted values; functional vital capacity was decreased in proportion to total lung capacity, consistent with a moderate restrictive ventilatory defect. Newborn radiographs in the affected brother showed 8 ribs bilaterally with costal fusions on the right, and multiple hemivertebrae with apparent block fusion of L2 to L3. By 13 years of age, he had developed prominent pectus excavatum, with stiffness in the trunk and neck, thoracic hypokyphosis, and lumbar hypolordosis. MRI at age 15 years showed multiple segmentation anomalies in the cervical and thoracic region, and magnetic resonance angiography demonstrated a hypoplastic left vertebral artery with absence of both posterior communicating arteries.
Sparrow et al. (2013) described 7 patients from 3 families, including a large consanguineous Arab family, with features consistent with spondylocostal dysostosis-4. Dextrocardia with situs inversus was seen in 3 of the 7 patients, suggesting randomization of left-right patterning. Neural tube defects were seen in 2 patients (one had spina bifida occulta and the other had thoracic myelomeningocele and Chiari II malformation) and were thought most likely to be secondary to failure of vertebral function. Patients were found to have a homozygous frameshift mutation in HES7 (see MOLECULAR GENETICS). Sparrow et al. (2013) suggested that HES7 mutations are associated with defects in laterality and in vertebral and neural tube formation.
Mapping
In a consanguineous family of Caucasian Mediterranean origin with spondylocostal dysostosis (SCDO), in which mutation in 3 genes known to cause recessive SCDO had been excluded (see SCDO1, 277300), Sparrow et al. (2008) performed autozygosity mapping and identified a 10.1-Mb region of homozygosity on chromosome 17 between SNPs rs8064630 and rs9893391 that was present in the proband but absent from parents and unaffected sibs.
Molecular Genetics
In the proband of a consanguineous family of Caucasian Mediterranean origin with spondylocostal dysostosis mapping to chromosome 17p13, Sparrow et al. (2008) sequenced 2 candidate genes and identified homozygosity for a missense mutation in 1 of them, HES7 (608059.0001). The parents and 1 unaffected sib who were heterozygous for the mutation had heights in the normal range and radiography of the spine and ribs showed normal anatomy.
In a brother and sister with SCDO from a nonconsanguineous Italian family, Sparrow et al. (2010) sequenced the 4 genes known to cause SCDO and identified compound heterozygosity for missense mutations in the HES7 gene (608059.0002 and 608059.0003). Sparrow et al. (2010) noted that in addition to the vertebral defects characteristic of SCDO, both affected individuals manifested defects of the vertebral arteries in the neck that had not previously been described in SCDO patients; they suggested that this finding might be unique to HES7-related SCDO.
In 7 patients from 3 families with SCDO, Sparrow et al. (2013) identified a homozygous frameshift mutation in the HES7 gene (608059.0004) that resulted in significant reduction of HES7 protein function. Four patients were from a consanguineous Arab family and the other patients were from 2 additional families from the same geographic area. Three patients also had dextrocardia with situs inversus and 2 patients also had neural tube defects.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature CARDIOVASCULAR Heart \- Dextrocardia Vascular \- Vertebral artery hypoplasia, unilateral RESPIRATORY Lung \- Restrictive ventilatory defect, moderate CHEST \- Situs inversus External Features \- Short thorax Ribs Sternum Clavicles & Scapulae \- Rib anomalies \- Rib number reduced \- Rib fusion at multiple points ABDOMEN \- Situs inversus SKELETAL Spine \- Vertebral segmentation defects \- Hemivertebrae \- Vertebral fusion \- Block vertebrae \- Abnormal odontoid process NEUROLOGIC Central Nervous System \- Spina bifida occulta \- Myelomeningocele MOLECULAR BASIS \- Caused by mutation in the homolog of the Drosophila hairy/enhancer of split 7 gene (HES7, 608059.0001 ) ▲ 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
|
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
|
c0265343
| 25,197 |
omim
|
https://www.omim.org/entry/613686
| 2019-09-22T15:57:50 |
{"doid": ["0050568"], "mesh": ["C537565"], "omim": ["613686"], "orphanet": ["2311"], "genereviews": ["NBK8828"]}
|
Not to be confused with Spastic monoplegia.
Monoplegia
SpecialtyNeurology
Monoplegia is paralysis of a single limb, usually an arm. Common symptoms associated with monoplegic patients are weakness, numbness, and pain in the affected limb. Monoplegia is a type of paralysis that falls under hemiplegia. While hemiplegia is paralysis of half of the body, monoplegia is localized to a single limb or to a specific region of the body. Monoplegia of the upper limb is sometimes referred to as brachial monoplegia, and that of the lower limb is called crural monoplegia. Monoplegia in the lower extremities is not as common of an occurrence as in the upper extremities. Monoparesis is a similar, but less severe, condition because one limb is very weak, not paralyzed. For more information, see paresis.
Many conditions that cause paraplegia or quadriplegia begin as monoplegia. Thus, the diagnosis of spinal paraplegia must also be consulted. In addition, multiple cerebral disorders that cause hemiplegia may begin as monoplegia.[1] Monoplegia is also frequently associated with, and considered to be the mildest form of, cerebral palsy.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Mechanism
* 4 Diagnosis
* 5 Treatment
* 6 References
* 7 External links
## Signs and symptoms[edit]
There are a number of symptoms associated with monoplegia. Curling of the hands or stiffness of the feet, weakness, spasticity, numbness, paralysis, pain in the affected limb, headaches, and shoulder pain are all considered to be symptoms of monoplegia. Patients of monoplegia typically feel symptoms of weakness and loss of sensation in the affected extremity, usually an arm. Despite these symptoms, the extremity with paralysis continues to maintain a strong pulse.
While chronic progressive brachial monoplegia is uncommon, syringomyelia and tumors of the cervical cord or brachial plexus may be the cause. The onset of brachial plexus paralysis is usually explosive where pain is the initial feature. Pain localizes to the shoulder but may be more diffuse, or could be limited to the lower arm. Pain is severe and often described as sharp, stabbing, throbbing, or aching. The duration of pain, which is constant, varies from a span of several hours to 3 weeks.[2] As the pain subsides, weakness usually appears. In addition, chronicle progressive weakness of one leg suggests a tumor of the spinal cord of the lumbar plexus. Fever is often the first symptom of lumbar plexus paralysis, followed by pain in one or both legs. The pain has an abrupt onset and may occur in a femoral or sciatic distribution. Weakness may develop concurrently with pain or be delayed for as long as 3 weeks.[2] Furthermore, a monomeric form of spinal muscular atrophy, affecting only one leg or arm, should be considered when progressive weakness is not accompanied by sensory loss.[1]
## Causes[edit]
Some potential causes of monoplegia are listed below.
1. Cerebral palsy
2. Physical trauma to the affected limb
3. Central nervous mass lesion, including tumor, hematoma, or abscess[3]
4. Complicated migraine[3]
5. Epilepsy[3]
6. Head or spinal trauma[3]
7. Hereditary brachial neuritis[3]
8. Hereditary neuropathy with liability to pressure palsy[3]
9. Neonatal brachial plexus paralysis[3]
10. Neuropathy[3]
11. Plexopathy[3]
12. Traumatic peroneal neuropathy[3]
13. Vaccine-associated paralytic poliomyelitis[3]
14. Hemiparetic seizures[3]
15. Monomeric spinal muscular atrophy[3]
16. Stroke[3]
Specifically, monoplegia in the lower extremities is typically caused by Brown Sequard syndrome and hematomas in the frontoparietal cortex near the middle that could produce a deficit such as this, but this is a very uncommon occurrence.
## Mechanism[edit]
Human motor cortex
The motor tract.
In monoplegia, the spine and the proximal portion of nerves are usually the abnormal sites of limb weakness.[1] Monoplegia resulting from upper extremity impairments following a stroke occurs due to direct damage to the primary motor cortex, primary somatosensory cortex, secondary sensorimotor cortex, sensorimotor cortical areas, subcortical structures, and/or the corticospinal tract.[4] It is often found that impairments following stroke are either caused by damage to the same or adjacent neurological structures.[4] A combination of these impairments is more likely than just one in isolation.[4] Damage to the corticospinal system results in an inability to activate muscles with enough force or in a coordinated manner, which can lead to paresis, loss of fractional movement, and abnormal muscle tone.[4] Damage to the somatosensory cortical areas causes loss of somatosensation which results in an impaired ability to monitor movement.[4]
Considering monoplegia as it relates to cerebral palsy, in premature infants, the most common cause of cerebral palsy is periventricular hemorrhagic infarction. In term infants, the underlying causes are often cerebral malformations, cerebral infarction, and intracerebral hemorrhage.[1] Delayed crawling or walking are the usual concerns that arise in infants with paralysis of the limb. In these cases, abnormalities of the legs are the main focus of the attention.[1]
## Diagnosis[edit]
Monoplegia is diagnosed by a physician after a physical examination and sometimes after further neurologic examination as well. As monoplegia is fairly rare, after physical examination of a patient complaining of monoplegia, sometimes weakness of an additional limb is also identified and the patient is diagnosed with hemiplegia or paraplegia instead.[3] After neurologic examination of the limb, a diagnosis of a monoplegic limb can be given if the patient receives a Medical Research Council power grade of 0, which is a measurement of the patient's limb strength.[5] Needle Electromyography is often used to study all limbs, essentially showing the extent in each limb involvement. Furthermore, magnetic resonance imaging (MRI) is the diagnostic modality of choice for investigating all forms of hemiplegia. It is especially informative to show migrational defects in hemiplegic cerebral palsy associated with seizures.[6]
An approach called single-pulse transcranial magnetic stimulation (spTMS) has also been used to help diagnose motor deficits such as monoplegia.[5] This is done by evaluating the functional level of the corticospinal tract through stimulation of the corticospinal lesions in order to obtain neurophysiologic evidence on the integrity of the corticospinal tracts.[5] Single-pulse transcranial magnetic stimulation provides neuropsychological feedback such as motor-evoked potentials (MEPs) and central motor conduction time (CMCT).[5] This feedback can then be compared to the normal limits of patients who do not show evidence of deficits in the corticospinal tracts.[5]
## Treatment[edit]
There is no cure for monoplegia, but treatments typically include physical therapy and counseling to help recover muscle tone and function. Recovery will vary depending on diagnosis of temporary, partial or complete paralysis. Much of the therapies focus on the upper limb due to the fact that monoplegia in the upper limbs is much more common than in the lower limbs. It has been found that intense activity-based and goal-directed therapy, such as constraint-induced movement therapy and bimanual therapy, are more effective than standard care. Studies suggest the less affected hand could provide a template for improving motor performance of the more affected hand, and provides a strong rationale for the development of bimanual training approaches.[7] In addition to that, there is strong evidence to support that occupational therapy home programs that are goal-directed could be used to supplement hands-on direct therapy.[8]
Constraint-induced movement therapy (CIMT) is specifically targeted at upper limb monoplegia as a result of a stroke. In CIMT the unaffected arm is restrained, forcing the use and frequent practice of the affected arm. This approach to therapy is carried out during ordinary and daily activities by the affected person. It has been found that CIMT is more effective at specifically improving arm movement than a physiotherapy approach or no treatment at all.[9] This type of therapy has proved to provide an only moderate improvement in patients with monoplegia.[9] More research needs to be conducted in order to establish the lasting benefit of constraint-induced movement therapy.
Brain computer interface (BCI) systems have been proposed as a tool for rehabilitation of monoplegia, specifically in the upper limb after a stroke.[10] BCI systems provide sensory feedback in the brain via functional electrical stimulation, virtual reality environments, or robotic systems, which allows for the use of brain signals.[10] This is extremely crucial because the networking in the brain is often compromised after a stroke, leading to impaired movement or paralysis. BCI systems allow for detection of intention to move through the primary motor cortex, then provide the matched sensory stimulation according to feedback that is provided.[10] This leads to activity-dependent plasticity within the user, requiring them to pay careful attention to tasks that require the activation or deactivation of specific brain areas.[10] BCI systems utilize different sources of information for feedback, including electroencephalography (EEG), magnetoencephalography, functional magnetic resonance imaging, near-infrared spectroscopy, or electrocorticography.[10] Among all of these, the EEG signals are the most useful for this type of rehabilitation because they are highly accurate and stable.[10]
Another form of treatment for monoplegia is functional electrical stimulation (FES). It is targeted at patients who acquired monoplegia through incidents such as a spinal cord injury, stroke, multiple sclerosis, or cerebral palsy and utilizes electrical stimulation in order to cause the remaining motor units in the paralyzed muscles to contract.[11] As in traditional muscular training, FES improves the force with which the unaffected muscles contract. For less severely affected patients, FES allows for greater improvement in range of motion than traditional physical therapy.[11]
## References[edit]
1. ^ a b c d e Fenichel, Gerald (2009). Clinical Pediatric Neurology: a signs and symptoms approach. Philadelphia, PA: Saunders/Elsevier. p. 285.
2. ^ a b Fenichel, Gerald (2009). Clinical Pediatric Neurology: a signs and symptoms approach. Philadelphia, PA: Saunders/Elsevier. p. 286.
3. ^ a b c d e f g h i j k l m n o Vasconcelos MM, Vasconcelos LG, Brito AR (November 2017). "Assessment of acute motor deficit in the pediatric emergency room". Jornal de Pediatria. 93 Suppl 1: 26–35. doi:10.1016/j.jped.2017.06.003. PMID 28756061.
4. ^ a b c d e Lang CE, Bland MD, Bailey RR, Schaefer SY, Birkenmeier RL (2013). "Assessment of upper extremity impairment, function, and activity after stroke: foundations for clinical decision making". Journal of Hand Therapy. 26 (2): 104–14, quiz 115. doi:10.1016/j.jht.2012.06.005. PMC 3524381. PMID 22975740.
5. ^ a b c d e Deftereos SN, Panagopoulos GN, Georgonikou DD, Karageorgiou EC, Kefalou PN, Karageorgiou CE (2008). "Diagnosis of nonorganic monoplegia with single-pulse transcranial magnetic stimulation". Primary Care Companion to the Journal of Clinical Psychiatry. 10 (5): 414. doi:10.4088/PCC.v10n0511d. PMC 2629052. PMID 19158985.
6. ^ Fenichel, Gerald (2009). Clinical pediatric neurology: A signs and symptoms approach. Philadelphia, PA: Saunders/Elsevier. p. 249.
7. ^ Bleyenheuft, Yannick; Gordon, Andrew M. (2013-09-01). "Precision grip control, sensory impairments and their interactions in children with hemiplegic cerebral palsy: A systematic review". Research in Developmental Disabilities. 34 (9): 3014–3028. doi:10.1016/j.ridd.2013.05.047. ISSN 0891-4222. PMID 23816634.
8. ^ Sakzewski L, Ziviani J, Boyd RN (January 2014). "Efficacy of upper limb therapies for unilateral cerebral palsy: a meta-analysis". Pediatrics. 133 (1): e175-204. doi:10.1542/peds.2013-0675. PMID 24366991.
9. ^ a b Corbetta D, Sirtori V, Castellini G, Moja L, Gatti R (October 2015). "Constraint-induced movement therapy for upper extremities in people with stroke" (PDF). The Cochrane Database of Systematic Reviews (10): CD004433. doi:10.1002/14651858.CD004433.pub3. PMC 6465192. PMID 26446577.
10. ^ a b c d e f Monge-Pereira E, Ibañez-Pereda J, Alguacil-Diego IM, Serrano JI, Spottorno-Rubio MP, Molina-Rueda F (September 2017). "Use of Electroencephalography Brain-Computer Interface Systems as a Rehabilitative Approach for Upper Limb Function After a Stroke: A Systematic Review". PM&R. 9 (9): 918–932. doi:10.1016/j.pmrj.2017.04.016. PMID 28512066.
11. ^ a b Ethier C, Miller LE (November 2015). "Brain-controlled muscle stimulation for the restoration of motor function". Neurobiology of Disease. 83: 180–90. doi:10.1016/j.nbd.2014.10.014. PMC 4412757. PMID 25447224.
## External links[edit]
Classification
D
* ICD-10: G83.1-G83.3
* ICD-9-CM: 344.3-344.5, 438.3-438.4
* MeSH: D006429
* v
* t
* e
Symptoms and signs relating to movement and gait
Gait
* Gait abnormality
* CNS
* Scissor gait
* Cerebellar ataxia
* Festinating gait
* Marche à petit pas
* Propulsive gait
* Stomping gait
* Spastic gait
* Magnetic gait
* Truncal ataxia
* Muscular
* Myopathic gait
* Trendelenburg gait
* Pigeon gait
* Steppage gait
* Antalgic gait
Coordination
* Ataxia
* Cerebellar ataxia
* Dysmetria
* Dysdiadochokinesia
* Pronator drift
* Dyssynergia
* Sensory ataxia
* Asterixis
Abnormal movement
* Athetosis
* Tremor
* Fasciculation
* Fibrillation
Posturing
* Abnormal posturing
* Opisthotonus
* Spasm
* Trismus
* Cramp
* Tetany
* Myokymia
* Joint locking
Paralysis
* Flaccid paralysis
* Spastic paraplegia
* Spastic diplegia
* Spastic paraplegia
* Syndromes
* Monoplegia
* Diplegia / Paraplegia
* Hemiplegia
* Triplegia
* Tetraplegia / Quadruplegia
* General causes
* Upper motor neuron lesion
* Lower motor neuron lesion
Weakness
* Hemiparesis
Other
* Rachitic rosary
* Hyperreflexia
* Clasp-knife response
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Monoplegia
|
c0085622
| 25,198 |
wikipedia
|
https://en.wikipedia.org/wiki/Monoplegia
| 2021-01-18T18:52:16 |
{"mesh": ["D006429"], "icd-9": ["438.3", "344.3", "344.5", "438.4"], "icd-10": ["G83.3", "G83.1"], "wikidata": ["Q6901840"]}
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A number sign (#) is used with this entry because of evidence that otofaciocervical syndrome-2 (OTFCS2) is caused by homozygous mutation in the PAX1 gene (167411) on chromosome 20p11. One such family has been reported.
Description
Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013).
For a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 (166780).
Clinical Features
Pohl et al. (2013) studied a large consanguineous Turkish family segregating autosomal recessive otofaciocervical syndrome, with 4 affected members from 2 different branches of the family. All affected individuals presented with cup-shaped ears, bilateral mixed hearing loss, bilateral preauricular fistulas, lacrimal duct abnormalities, commissural lip clefting, retrognathia, protruding shoulders, and winged scapulae. The index patient was a boy with moderately delayed motor and mental milestones who had long eyelashes, blue sclerae, downslanting palpebral fissures, malocclusion and dental caries, tapering fingers with bilateral clinodactyly, and bilateral cutaneous syndactyly of the second and third toes. Bone x-rays showed anterior scalloping of the lower thoracic and lumbar vertebral bodies and a fusion defect in L5/S1. Brain MRI revealed periventricular white matter gliosis and bilateral mastoiditis. Pohl et al. (2013) stated that the clinical findings of all affected family members were consistent with a diagnosis of OTFC syndrome.
Mapping
In a large consanguineous Turkish family segregating autosomal recessive OTFC syndrome, Pohl et al. (2013) performed microsatellite marker analysis and haplotyping, which defined a 1.5-Mb shared interval on chromosome 20, between markers D20S54 and D20S477 and encompassing the PAX1 gene (167411).
Molecular Genetics
By whole-exome sequencing in affected members of a large consanguineous Turkish family segregating autosomal recessive OTFC syndrome, Pohl et al. (2013) identified homozygosity for a missense variant in the PAX1 gene (G166V; 167411.0001). Sanger sequencing confirmed that homozygosity for the variant segregated with disease in the family, and the variant was not listed in more than 13,000 alleles from the Exome Variant Server database.
INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Microretrognathia Ears \- Simple cup-shaped ears \- Low-set ears \- Preauricular fistulas, bilateral \- Hearing loss, mixed conductive-sensorineural Eyes \- Alacrima \- Nasolacrimal duct stenosis \- Blue sclerae (in some patients) Nose \- Nasolacrimal duct stenosis Teeth \- Dental caries \- Malocclusion (in some patients) CHEST Ribs Sternum Clavicles & Scapulae \- Protruding shoulders \- Winged scapulae SKELETAL Skull \- Mastoiditis, bilateral (in some patients) Spine \- Anterior scalloping, lower thoracic and lumbar vertebral bodies (in some patients) \- Fusion defect at L5/S1 (in some patients) Hands \- Tapering fingers (in some patients) \- Clinodactyly (in some patients) Feet \- Cutaneous syndactyly, second and third toes (in some patients) NEUROLOGIC Central Nervous System \- Intellectual disability, moderate (in some patients) \- Developmental delay, moderate (in some patients) \- Periventricular white matter gliosis (in some patients) MISCELLANEOUS \- Based on 1 reported family (last curated December 2013) MOLECULAR BASIS \- Caused by mutation in paired box gene-1 (PAX1, 167411.0001 ) ▲ 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
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OTOFACIOCERVICAL SYNDROME 2
|
c2931416
| 25,199 |
omim
|
https://www.omim.org/entry/615560
| 2019-09-22T15:51:36 |
{"mesh": ["C537074"], "omim": ["615560"], "orphanet": ["2792"], "synonyms": ["Alternative titles", "OFC2"]}
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