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  • Adult-Onset Still's Disease Wikipedia
    Medications that block the action of interleukin-1 , such as Anakinra , can be effective treatments when standard steroid treatments are insufficient. [3] Contents 1 Signs and symptoms 2 Pathophysiology 3 Diagnosis 3.1 Classification 4 Treatment 5 Epidemiology 6 History 7 Research directions 8 See also 9 References 10 External links Signs and symptoms [ edit ] The disease typically presents with joint pain , high fevers, a salmon-pink macular or maculopapular rash, enlargement of the liver and spleen , swollen lymph nodes , and a neutrophil-predominant increased white blood cell count in the blood. [1] Tests for rheumatoid factor and anti-nuclear antibodies are usually negative and serum ferritin is markedly elevated. ... Interleukin-18 is expressed at high levels. [2] [7] [8] Diagnosis [ edit ] The diagnosis is clinical, not based upon serology . [9] At least seven sets of diagnostic criteria have been devised, however the Yamaguchi criteria have the highest sensitivity. ... "Adult-onset Still's disease" . Autoimmunity Reviews . 13 (7): 708–722. doi : 10.1016/j.autrev.2014.01.058 . ... Expert Review of Clinical Immunology . 14 (5): 351–365. doi : 10.1080/1744666X.2018.1465821 . ... "Association between adult-onset Still's disease and interleukin-18 gene polymorphisms" . Genes and Immunity . 3 (7): 394–9. doi : 10.1038/sj.gene.6363922 .
    IL1B, IL18, TNF, IL1A, IL6, MEFV, IFNG, RBM45, NLRP3, HLA-DRB1, CXCL10, IL18BP, IL10, SMUG1, HMOX1, MIF, MAP4K3, GCK, TNFRSF1A, CRP, CD68, CASP1, CXCR4, SQSTM1, TP53, FCGR2C, TLR4, STAT3, AIM2, KHDRBS1, ATG5, RTN3, CXCL12, NUP62, IL37, DCTN4, PLAC8, IL23A, NOD2, CLEC7A, IL33, NLRP12, MIR134, MIR141, SELL, ACR, CCL2, SAFB, FAS, FASLG, BAG1, CLU, FCGR1A, FCGR2A, FCGR2B, GNAO1, CXCR3, GTF2H1, HLA-DPB1, HLA-DQB1, HLA-DQB2, ICAM1, IFI16, CCN1, IL1RN, IL4, CXCL8, IL15, IL17A, ITGAM, ALB, MPO, RARB, SAA1, SAA2, MIR29A
    • Adult Still Disease Mayo Clinic
      Overview Adult Still disease is a rare type of inflammatory arthritis. Common symptoms are fevers, rash and joint pain. The condition can occur in some people as a single episode that goes away. In other people, the condition doesn't go away, or it goes away but comes back. Adult Still disease can damage joints, particularly the wrists. Treatment involves medicine to reduce pain and help control the disease. Prednisone is often used if pain relievers such as ibuprofen (Advil, Motrin IB, others) are not enough.
    • Adult-Onset Still's Disease GARD
      Adult-onset Still's disease (AOSD) is an inflammatory condition that affects multiple organs. The most common symptoms are high fevers, skin rash, arthritis, and high levels of ferritin , a protein that stores iron in the blood. Other symptoms include an enlarged spleen and lymph nodes, joint pain, and sore throat. In some cases, symptoms may be severe and lead to organ and joint damage. The cause of AOSD is unknown, but genetic and other unknown factors may be involved.
  • Porencephaly Wikipedia
    Cysts can develop in the frontal lobe , parietal lobe , forebrain , hindbrain , temporal lobe , or virtually anywhere in the cerebral hemisphere . [7] Genetics [ edit ] From recent studies, de novo and inherited mutations in the gene COL4A1 , suggesting genetic predisposition within the family, that encodes type IV collagen α1 chain has shown to be associated with and present in patients with porencephaly. ... In porencephaly patients, patients achieved good seizure control with appropriate drug therapy including valproate , carbamazepine , and clobazam . [6] [7] Also, anti-epileptic drugs served as another positive method of treatment. [7] Prognosis [ edit ] The severity of the symptoms associated with porencephaly varies significantly across the population of those affected, depending on the location of the cyst and damage of the brain. ... "The Differences in Epileptic Characteristics in Patients with Porencephaly and Schizencephaly". Brain Dev . 34 (7): 546–552. doi : 10.1016/j.braindev.2011.10.001 . ... J Matern Fetal Neonatal Med . 18 (6): 361–365. doi : 10.1080/14767050400029574 . ... "Genetic Mutation Predisposes to Porencephaly". Lancet Neurology . 4 (7): 400. doi : 10.1016/s1474-4422(05)70114-9 .
    COL4A1, COL4A2
    • Autosomal Dominant Porencephaly Type I Wikipedia
      Contents 1 Signs and symptoms 2 Genetics 3 Diagnosis 4 Treatment 5 Epidemiology 6 References 7 External links Signs and symptoms [ edit ] Different people are affected very differently by this disease.
    • Brain Small Vessel Disease 2 OMIM
      The coagulation defect normalized at age 7 months. At age 37 days, he had a ventricular shunt placed for progressive enlargement of the lateral ventricles.
    • Brain Small Vessel Disease 1 With Or Without Ocular Anomalies OMIM
      Vahedi et al. (2007) provided follow-up of the family reported by Vahedi et al. (2003) and Gould et al. (2006). During a 7-year period, 2 patients died from intracranial hemorrhage. ... Corneal clouding was present bilaterally in 5 individuals and unilaterally in 2; visual acuity in the patients with corneal opacities ranged from 20/25 to light perception. All 7 patients with corneal clouding also exhibited an irregular Schwalbe line, and anterior synechiae extending to the Schwalbe line were present in 5; no family member had elevated intraocular pressure. Iris hypoplasia was present in 6 of the 7 family members with corneal clouding, and the remaining individual had mild sectorial involvement. Mild corectopia was seen in 3 of the 7 patients, and 3 patients underwent cataract surgery before 45 years of age. ... Epilepsy was the presenting feature in 7% of the published patients and 13% of the newly identified patients.
  • Video Game–related Health Problems Wikipedia
    "Video game epilepsy in the twentieth century: a review". Childs Nerv Syst . 23 (3): 265–7. doi : 10.1007/s00381-006-0285-2 . ... "The influence of violent media on children and adolescents:a public-health approach" (PDF) . The Lancet . 365 (9460): 702–10. doi : 10.1016/S0140-6736(05)17952-5 . ... Pediatr . 165 (6): 408–14. doi : 10.1007/s00431-005-0018-7 . PMID 16552547 . S2CID 25399018 . ^ Vaidya HJ (March 2004). ... "Overweight and obesity related to activities in Portuguese children, 7-9 years" . Eur J Public Health . 17 (1): 42–6. doi : 10.1093/eurpub/ckl093 . ... "Active video games to promote physical activity in children and youth: a systematic review" . Arch Pediatr Adolesc Med . 164 (7): 664–72. doi : 10.1001/archpediatrics.2010.104 .
  • Epstein–barr Virus Infection Wikipedia
    Current Topics in Microbiology and Immunology . 390 . pp. 365–85. doi : 10.1007/978-3-319-22822-8_15 . ... "Post-infectious acute cerebellar ataxia in children". Clinical Pediatrics . 42 (7): 581–4. doi : 10.1177/000992280304200702 . ... "Epstein–Barr virus-associated acute renal failure: diagnosis, treatment, and follow-up". Pediatric Nephrology . 18 (7): 667–674. doi : 10.1007/s00467-003-1152-y . ... Current Neurology and Neuroscience Reports . 7 (3): 253–8. doi : 10.1007/s11910-007-0038-y . ... PMID 12409644 . ^ "Nasopharyngeal Cancer" . HealthCommunities.com. 7 December 2011. ^ "Epstein-barr | Mononucleosis | About Virus | Mono | CDC" . www.cdc.gov . 2019-01-28 .
    IRF8
    • Chronic Active Epstein-Barr Virus Infection GARD
      Chronic active Epstein-Barr virus infection (CAEBV) is a very rare complication of an Epstein Barr virus (EBV) infection. Symptoms of CAEBV may include fever, swollen lymph nodes, and an enlarged liver and/or spleen. More serious complications may include anemia, nerve damage, liver failure, and/or interstitial pneumonia. Symptoms may be constant or come and go, and tend to get worse over time. CAEBV occurs when the virus remains ‘active’ and the symptoms of an EBV infection do not go away.
    • Chronic Epstein-Barr Virus Infection Syndrome Orphanet
      Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.
    • Immunodeficiency 32b OMIM
      A number sign (#) is used with this entry because of evidence that immunodeficiency-32B (IMD32B) is caused by homozygous or compound heterozygous mutation in the IRF8 gene (601565) on chromosome 16q24. Immunodeficiency-32A (IMD32A; 614893), an autosomal dominant disorder, is allelic. Description Immunodeficiency-32B is an autosomal recessive primary immunodeficiency characterized by recurrent infections resulting from variable defects in immune cell development or function, including monocytes, dendritic cells, and natural killer (NK) cells. Patients have particular susceptibility to viral disease (summary by Mace et al., 2017). Clinical Features Fleisher et al. (1982) reported a family in which 3 sibs had an immunodeficiency syndrome characterized by susceptibility to Epstein-Barr virus (EBV).
  • Progressive Vaccinia Wikipedia
    Although some vaccinia viruses commonly disseminate through the bloodstream, the NYCBOH strain reportedly causes only limited viremia in a small percentage of recipients during the period of pustule formation. [6] [7] The inflammatory process reaches its peak by days 10–12 after vaccination and begins to resolve by day 14, with the shedding of the scab and other pustules by day 21. ... Maryland Heights, Missouri, United States: jacionline.org. 110 (3): 357–365. doi : 10.1067/mai.2002.128052 .
  • Neuromuscular Junction Disease Wikipedia
    The mechanism currently known that operates via the synaptic cleft causing impairment of normal functioning is another congenital myasthenia gravis.(reference 7) This mechanism is the only currently known disease that acts on the synapse. ... In other words, it is the most susceptible to negative intervention.(reference 7) The targets of these postsynaptic diseases can be multiple different proteins. ... (reference 14) Acquired myasthenia gravis is the most common neuromuscular junction disease.(reference 7) Important observations were made by Patrick and Lindstrom in 1973 when they found that antibodies attacking the acetylcholine receptors were present in around 85% of cases of myasthenia gravis. ... "Auto-antibodies to the receptor tyrosine kinase MuSK in patients with myasthenia gravis without acetylcholine receptor antibodies". Nat Med . 7 (3): 365–8. doi : 10.1038/85520 . ... "Myasthenia gravis and Lambert-Eaton myasthenic syndrome in the same patient". Muscle Nerve . 36 (1): 115–7. doi : 10.1002/mus.20735 . PMID 17206662 .
    ACHE, GAD2, GFPT1
  • Generalized Pustular Psoriasis Wikipedia
    Contents 1 Signs and symptoms 2 Causes 3 Genetic factors 4 Diagnosis 4.1 Classification 4.1.1 von Zumbusch acute generalized pustular psoriasis 4.1.2 Generalized pustular psoriasis of pregnancy (Impetigo herpetiformis) 4.1.2.1 Infantile and juvenile 4.1.3 Circinate and annular 5 Treatments 6 Prognosis 7 Case reports 7.1 Case report 1 7.2 Case report 2 7.3 Case report 3 7.4 Case report 4 7.5 Case report 5 8 See also 9 References 10 External links Signs and symptoms [ edit ] GPP presents as pustules and plaques over a wide area of the body. ... Provocative Factors Influencing Pustular Psoriasis Drugs: lithium , aspirin , salicylates , methotrexate , corticosteroids , progesterone , phenylbutazone , trazodone , penicillin , hydrochloroquine Irritation from topical therapy: coal tar , anthralin Infections: dental, upper respiratory Pregnancy Solar irradiation Source: "Table II", "Pustular Psoriasis" Farber and Nall, 1993 [5] Genetic factors [ edit ] Although there are likely to be multiple genetic factors and environmental triggers, mutations causing defects in the IL-36RN , CARD14 and AP1S3 genes have been shown to cause GPP. [6] [7] [8] Diagnosis [ edit ] Classification [ edit ] It is important to note that while there are different forms of GPP, they are not exclusive of each other. ... "Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis". N. Engl. J. Med . 365 (7): 620–8. doi : 10.1056/NEJMoa1013068 . ... Journal of Dermatological Treatment . 19 (3): 185–7. doi : 10.1080/09546630701759587 . ... Journal of the American Academy of Dermatology . 25 (2 Pt 1): 336–7. doi : 10.1016/s0190-9622(08)80478-1 .
    IL36RN, AP1S3, TNF, IL17A, CARD14, IL1RL2, IL17RA, IL1B, IL37, IL1A, CRP, CAMP, IL22, IL20, IL19, PIPOX, IL23A, ATG16L1, NLRP1, IL24, MMEL1, OLFM4, TNIP1, TNFAIP3, APOE, TLR4, SELENOP, CDK9, CCR6, DSP, FGFR3, CXCL1, HLA-A, HLA-C, HLA-DQB1, IFNG, IL1RN, IL6, CXCL8, CXCR2, LTA, CFB, PLXNB1
    • Generalized Pustular Psoriasis GARD
      Generalized pustular psoriasis is a severe inflammatory skin condition that can be life-threatening. Affected people develop episodes of red and tender skin with widespread pustules throughout their body. This is generally accompanied by fever, chills, headache, rapid pulse rate, loss of appetite, nausea and muscle weakness. The condition generally resolves within days or weeks; however, relapses are common. Some cases of generalized pustular psoriasis are caused by changes (mutations) in the IL36RN gene and are inherited in an autosomal recessive manner.
    • Psoriasis 14, Pustular OMIM
      The frequency of flare-ups was highly variable, and the episodes were associated with viral or bacterial infections in 12 patients, withdrawal of retinoid therapy in 7, menstruation in 6, and pregnancy in 2; the latter 2 patients received a diagnosis of impetigo herpetiformis during pregnancy. ... They identified homozygosity or compound heterozygosity for IL36RN mutations in 7 patients with generalized disease, 3 with palmoplantar pustulosis, and 2 with acrodermatitis continua (see 605507.0002, 605507.0004, and 605507.0007-605507.0008).
    • Generalized Pustular Psoriasis Orphanet
      Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.
    • Psoriasis 15, Pustular, Susceptibility To OMIM
      A number sign (#) is used with this entry because of evidence that susceptibility to pustular psoriasis-15 (PSORS15) is conferred by heterozygous mutation in the AP1S3 gene (615781) on chromosome 2q36. For a discussion of genetic heterogeneity of psoriasis, see PSORS1 (177900). Molecular Genetics Setta-Kaffetzi et al. (2014) performed whole-exome sequencing in 9 patients with acral pustular psoriasis (acrodermatitis continua of Hallopeau) who were negative for mutation in the CARD14 (607211) and IL36RN (605507) genes, and identified heterozygosity for a missense mutation in the AP1S3 gene (R33W; 615781.0001) in 4 patients. Subsequent screening of 119 unrelated British patients with pustular psoriasis, including 112 with the palmoplantar form (PPP), 5 with the generalized form (GPP), and 2 with the acral form, revealed the same R33W missense mutation in 5 additional patients, 4 with PPP and 1 with GPP; in addition, 6 patients, 5 with PPP and 1 with GPP, were heterozygous for another missense mutation (F4C; 615781.0002) in the AP1S3 gene. Overall, Setta-Kaffetzi et al. (2014) observed that AP1S3 variants were detected in all forms of pustular psoriasis but were noticeably enriched among patients with the acral form and significantly underrepresented within the PPP dataset.
  • Opsoclonus Myoclonus Syndrome Wikipedia
    It affects 2 to 3% of children with neuroblastoma and has been reported to occur with celiac disease and diseases of neurologic and autonomic dysfunction. [2] [3] Contents 1 Signs and symptoms 1.1 Disease course and clinical subtypes 2 Cause 3 Diagnosis 4 Treatment 5 Prognosis 6 Research 7 Nomenclature 8 References 9 Further reading 10 External links Signs and symptoms [ edit ] Symptoms include: [ citation needed ] opsoclonus (rapid, involuntary, multivectorial (horizontal and vertical), unpredictable, conjugate fast eye movements without inter saccadic [quick rotation of the eyes] intervals) myoclonus (brief, involuntary twitching of a muscle or a group of muscles) cerebellar ataxia , both truncal and appendicular aphasia (a language disorder in which there is an impairment of speech and of comprehension of speech, caused by brain damage) mutism (a language disorder in which a person does not speak despite evidence of speech ability in the past, often part of a larger neurological or psychiatric disorder) lethargy irritability or malaise drooling strabismus (a condition in which the eyes are not properly aligned with each other) vomiting sleep disturbances emotional disturbances (including fits of rage [4] ) About half of all OMS cases occur in association with neuroblastoma (a cancer of the sympathetic nervous system usually occurring in infants and children). [ citation needed ] Disease course and clinical subtypes [ edit ] In most cases OMS starts with an acute flare-up of physical symptoms within days or weeks, but some less obvious symptoms such as irritability and malaise may begin weeks or months earlier. [ citation needed ] Cause [ edit ] In children, most cases are associated with neuroblastoma and most of the others are suspected to be associated with a low-grade neuroblastoma that spontaneously regressed before detection. ... Louis encephalitis , Chikungunya , Epstein-Barr , Coxsackie B , enterovirus , or just a flu) causes the remaining cases, though a direct connection has not been proven, [6] or in some cases Lyme disease . [7] OMS is not generally considered an infectious disease . ... "Longitudinal neurodevelopmental evaluation of children with opsoclonus-ataxia". Pediatrics . 116 (4): 901–7. doi : 10.1542/peds.2004-2377 . PMID 16199699 . ... "Delayed, recurrent opsoclonus-myoclonus syndrome responding to plasmapheresis". Pediatr. Neurol . 33 (5): 365–7. doi : 10.1016/j.pediatrneurol.2005.05.018 . ... "The association between neuroblastoma and opsoclonus-myoclonus syndrome: a historical review". Pediatr Radiol . 39 (7): 723–6. doi : 10.1007/s00247-009-1282-x .
    POMC, CSF2, LAMC2, CCR4, GPI, IGF1, MYCN, PIK3CA, PIK3CB, PIK3CD, PIK3CG, CCL17, CCL22, KCTD7
    • Opsoclonus-Myoclonus Syndrome Orphanet
      Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders. Epidemiology The annual incidence is estimated at around 1/5,000,000. Clinical description OMS typically presents between 1 and 3 years of age, although it can occur earlier or later in childhood. It is characterized by opsoclonus (rapid, multi-directional, conjugate eye movements), myoclonic jerks, ataxia, irritability and sleep disturbances. The clinical course may be monophasic or chronic relapsing. OMS is associated in approximately 50% of pediatric cases with a neuroblastoma (see this term); this tumour is usually (but not always) of low grade with a good oncological outcome.
    • Opsoclonus-Myoclonus Syndrome GARD
      Opsoclonus-myoclonus syndrome (OMS) is a rare disorder that affects the nervous system. Symptoms include rapid, multi-directional eye movements (opsoclonus), quick, involuntary muscle jerks ( myoclonus ), uncoordinated movement (ataxia), irritability, and sleep disturbance. The onset of OMS is usually abrupt and often severe. The disease may become chronic. OMS typically occurs in association with tumors ( neuroblastomas ), or following a viral or bacterial infection. Treatment may include corticosteroids or ACTH ( adrenocorticotropic hormone ).
  • Escherichia Coli O104:h4 Wikipedia
    Analysis of genomic sequences obtained by BGI Shenzhen shows that the O104:H4 outbreak strain is an enteroaggregative E. coli (EAEC or EAggEC) type that has acquired Shiga toxin genes, presumably by horizontal gene transfer . [2] [3] [4] Genome assembly and copy-number analysis both confirmed that two copies of the Shiga toxin stx2 prophage gene cluster are a distinctive characteristic of the genome of the O104:H4 outbreak strain. [5] [6] The O104:H4 strain is characterized by these genetic markers: [6] [7] Shiga toxin stx2 positive tellurite resistance gene cluster positive intimin adherence gene negative β-lactamases ampC, ampD, ampE, ampG, ampH are present. ... "Prospective genomic characterization of the German enterohemorrhagic Escherichia coli O104:H4 outbreak by rapid next generation sequencing technology" . PLoS One . 6 (7): e22751. doi : 10.1371/journal.pone.0022751 . ... "Epidemic profile of Shiga-toxin–producing Escherichia coli O104:H4 outbreak in Germany". New England Journal of Medicine . 365 (19): 1771–1780. doi : 10.1056/NEJMoa1106483 . ... Science News, Articles and Information | Scientific American. Scientific American, 7 Aug. 2011. Web. 08 Nov. 2011. < http://www.scientificamerican.com/article.cfm?
  • Hereditary Pancreatitis Wikipedia
    The term "hereditary pancreatitis" is used when a genetic biomarker is identified, and "familial pancreatitis" otherwise. [3] Contents 1 Presentation 2 Genetics 3 Diagnosis 4 Management 5 Prognosis 6 References 7 External links Presentation [ edit ] HP is characterised by attacks of epigastric pain , which are often associated with nausea and vomiting. ... Lifetime risk of cancer has been variously calculated as 35–54% [4] [5] [6] to the age of 75 years and screening for early pancreatic cancer is being offered to HP sufferers on a scientific basis. [7] Some patients may choose to have their pancreas surgically removed to prevent pancreatic cancer from developing in the future. [8] The epidemiology of HP follows a similar pattern to alcohol-associated chronic pancreatitis, but there are important differences. For example, HP typically has an earlier age of pancreatitis onset; although malabsorption and diabetes mellitus occur at a later stage in the disease progression. [5] Genetics [ edit ] The vast majority of the cases of HP are caused by substitutions, at base 365 (c.365G>A) and base 86 of the cDNA (c.86A>T) on the PRSS1 gene. ... "A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis". Gastroenterology . 117 (1): 7–10. doi : 10.1016/s0016-5085(99)70543-3 .
    SPINK1, PRSS1, CTRC, CFTR, PRSS2, CPA1, CASR, HP, STAT6, OR10A4, NAB2, MSR1, ELAC2, TP53, PCAP, RNASEL, GAST, CBX4, NGFR, KLK3, CD274, LGR5, NPEPPS, TNF, PIK3CA, IL10, PROS1, CTSB, CRP, PIK3CB, PSAT1, PRSS3, PLAG1, BRCA2, PIK3CG, CDKN2A, COX2, PIK3CD, VEGFA, UBB, TSC2, SERPINA1, TGFB1, PTGS2, TLR4, SYP, SRD5A2, S100A8, SOX9, S100A9, MAPK3, ABL2, CLDN1, CRISPLD2, PINX1, SPHK2, SMURF1, EHMT1, CAMKMT, APOL3, PANX3, ADIPOQ, PRSS58, MIR204, HPC3, ZGLP1, MIR4270, MTCO2P12, PGPEP1, DLL4, FOXP3, MBL3P, BHLHE22, AMACR, HEY1, CELA3B, LZTS1, NCOA2, HOXB13, DLC1, HDAC6, MAGEC1, PECAM1, HDAC9, HPCX, PGR, MUC5AC, PDCD1, DSPP, CDKN1C, CP, CPB2, CLDN7, CYP1B1, CYP17A1, EEF1B2P2, CDK2, EPHB4, ERBB2, ERCC1, F13A1, FAP, FCGR2B, CDKN1B, CDH1, GCG, BDNF, APC, BIRC2, APP, RERE, CCND1, BCL2, BGN, CD40, BRAF, CALM1, CALM2, CALM3, CCKBR, KRIT1, FOXD1, GDNF, PCNA, MLH1, MAP2, MBL2, MGMT, MGST1, CD99, MIF, MMP9, LCN2, MPO, MUC1, ABO, MUC6, NGF, NOTCH1, EPCAM, KRT19, GLP1R, HDGF, GPI, GPT, GSTM1, GSTM3, GSTT1, HDAC1, HIF1A, IRF1, HLA-DQA1, HLA-DQB1, IL1A, IL1B, IL4, CXCL8, H3P10
    • Hereditary Pancreatitis GARD
      Hereditary pancreatitis causes multiple episodes of inflammation of the pancreas ( pancreatitis ), an important digestive organ. Symptoms usually begin in childhood and may last a few days or longer. Signs and symptoms may include stomach pain, nausea, or vomiting. People with hereditary pancreatitis develop chronic pancreatitis, a constantly inflamed pancreas. This leads to symptoms which may include fatty stools, weight loss, and poor absorption of nutrients from food. Adults with hereditary pancreatitis are at an increased risk for type 1 diabetes and pancreatic cancer.
    • Hereditary Chronic Pancreatitis Orphanet
      A rare gastroenterologic disease characterized by recurrent acute pancreatitis and/or chronic pancreatitis in at least 2 first-degree relatives, or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. This rare inherited form of pancreatitis leads to irreversible damage to both exocrine and endocrine components of the pancreas. Epidemiology The estimated prevalence of hereditary chronic pancreatitis (HCP) is approximately 1/300,000 people in Europe (1/800,000 in Germany, approximately 1/333,335 in France and approximately 1/175,440 in Denmark). Clinical description Onset of HCP is typically early in life, during childhood and adolescence. The clinical presentation is highly variable and includes chronic or intermittent mild to severe abdominal pain associated with exocrine pancreatic insufficiency, leading to maldigestion and/or pancreatic endocrine insufficiency (glucose intolerance progressing to diabetes mellitus type 3c) in some cases.
    • Pancreatitis, Hereditary OMIM
      Sibert (1978) identified 72 patients in 7 families in England and Wales. Penetrance was about 80%. ... Although no genealogic link could be found through 8 generations, subsequent haplotyping revealed that all 4 of the American families had the same high-risk haplotype over a 4-cM region encompassing 7 STR markers, confirming the likelihood that these kindreds share a common ancestor. ... Chen et al. (2000) reported mutation analysis in the PSTI (SPINK1) gene in 14 families with hereditary pancreatitis and in 30 individuals with sporadic chronic pancreatitis. A total of 7 polymorphisms, but no pathogenic mutations, were detected.
    • Hereditary Pancreatitis MedlinePlus
      Hereditary pancreatitis is a genetic condition characterized by recurrent episodes of inflammation of the pancreas (pancreatitis). The pancreas produces enzymes that help digest food, and it also produces insulin , a hormone that controls blood sugar levels in the body. Episodes of pancreatitis can lead to permanent tissue damage and loss of pancreatic function. Signs and symptoms of this condition usually begin in late childhood with an episode of acute pancreatitis. A sudden (acute) attack can cause abdominal pain, fever, nausea, or vomiting.
  • Red Eye (Medicine) Wikipedia
    It may be more common in occupations such as farming and welding. inflamed pinguecula [7] – a yellow-white deposit close to the junction between the cornea and sclera, on the conjunctiva. ... "The science of pterygia". Br J Ophthalmol . 94 (7): 815–20. doi : 10.1136/bjo.2008.151852 . ... American Academy Ophthalmology. p. 365. ISBN 1-56055-814-8 . ^ "Keratoconjunctivitis, Sicca" . eMedicine .
    CDKN2A
  • Hemolytic–uremic Syndrome Wikipedia
    "New insights into postrenal transplant hemolytic uremic syndrome". Nature Reviews Nephrology . 7 (1): 23–35. doi : 10.1038/nrneph.2010.155 . ... "Hemolytic Uremic Syndrome: pathogenesis and update of interventions". Expert Rev Anti Infect Ther . 7 (6): 697–707. doi : 10.1586/eri.09.49 . ... New York, NY: McGraw-Hill. ISBN 978-0-07-138875-7 . ^ Rivero, MA; Passucci, JA; Rodriguez, EM; Signorini, ML; Tarabla, HD; Parma, AE (2011). ... "Hemolytic–uremic syndrome". Pediatr Rev . 22 (11): 365–9. doi : 10.1542/pir.22-11-365 . ... "German outbreak of Escherichia coli O104:H4 associated with sprouts". N Engl J Med . 365 (19): 1763–1770. doi : 10.1056/NEJMoa1106482 .
    CD46, DGKE, C3, CFB, CFH, IL6, IL1B, TNF, NQO1, ALB, IL1A, EPO, CCL2, ADAMTS13, CFI, CFHR1, THBD, CFHR3, MMACHC, PRDX1, STX1A, TRIM25, STX2, VWF, CAPG, RNR2, ST8SIA2, IL10, PCSK5, PLG, SH3BP4, MTHFR, CXCR4, F3, MCHR2, CXCL12, ZFP36, TLR4, CCR2, LIPG, PLA2G7, ST11, MIR126, GRHPR, WT1, AIMP2, ACKR3, GADL1, SUMF2, A4GALT, CLEC1B, DBR1, DESI1, HPLH1, CFHR5, POLDIP2, RNF19A, IL33, GRAP2, CADM1, NT5C2, AZIN2, SLC35G1, IL24, RAB7B, NLE1, AHSA1, ABO, SAA2, TP53, FGF2, EDN1, SLC25A10, MAPK14, CRK, CPB2, CLU, CDA, CD40LG, CD22, CAT, CASP1, VPS51, C4BPA, C3AR1, APCS, ANGPT2, ANGPT1, FABP1, FHL1, TM7SF2, HLA-DRB1, TGFB1, SPARC, CX3CL1, CCL20, CCL4, AGT, SAA1, REN, MAPK1, COX1, MATK, IL18, CXCL8, IL4R, IL2RA, IFNB1, HMGB1, RN7SL263P
    • Hemolytic Uremic Syndrome GARD
      Hemolytic uremic syndrome (HUS) is a disorder that usually occurs when an E. coli bacterial infection in the digestive system produces toxic substances that destroy red blood cells. Symptoms include vomiting and diarrhea, fever, lethargy , and weakness. In severe cases it can lead to kidney failure or death. While this condition is most common in children, it often has a more complicated presentation in adults. Treatment may include dialysis, corticosteroids, transfusions of packed red blood cells and plasmapheresis . Hemolytic uremic syndrome should be distinguished from atypical hemolytic uremic syndrome (aHUS).
  • Bruce Effect Wikipedia
    "Pregnancy-Block in the Meadow Vole, Microtus Pennsylvanicus" . Reproduction . 24 (2): 275–7. doi : 10.1530/jrf.0.0240275 . PMID 5551417 . ^ MALLORY, F. ... Hormones and Behavior . 55 (1): 240–7. doi : 10.1016/j.yhbeh.2008.10.013 . ... Pennsylvanicus and Peromyscus maniculatus" . Reproduction . 49 (2): 365–7. doi : 10.1530/jrf.0.0490365 . ... Behavioral Ecology and Sociobiology . 52 (1): 31–7. doi : 10.1007/s00265-002-0484-0 . ... "Laboratory Studies with Rodents: Facts or Artifacts?" . BioScience . 53 (4): 421–7. doi : 10.1641/0006-3568(2003)053[0421:LSWRFO]2.0.CO;2 .
  • Large Granular Lymphocytic Leukemia Wikipedia
    As the name suggests, T-cell large granular lymphocyte leukemia is characterized by involvement of cytotoxic- T cells ). [2] In a study based in the US, the average age of diagnosis was 66.5 years [3] whereas in a French study the median age at diagnosis was 59 years (with an age range of 12-87 years old). [4] In the French study, only 26% of patients were younger than 50 years which suggests that this disorder is associated with older age at diagnosis. [4] Due to lack of presenting symptoms, the disorder is likely to be underdiagnosed in the general population. [5] Contents 1 Signs and symptoms 1.1 Sites of involvement 2 Cause 3 Diagnosis 3.1 Laboratory findings 3.2 Peripheral blood 3.3 Bone marrow 3.4 Immunophenotype 3.5 Genetic findings 4 Treatment 5 Prognosis 6 Epidemiology 7 History 8 References 9 External links Signs and symptoms [ edit ] This disease is known for an indolent clinical course and incidental discovery. [1] The most common physical finding is moderate splenomegaly . B symptoms are seen in a third of cases, and recurrent infections due to anaemia and/or neutropenia [6] are seen in almost half of cases. [7] [8] [9] [10] Rheumatoid arthritis is commonly observed in people with T-LGLL, leading to a clinical presentation similar to Felty's syndrome . [11] Signs and symptoms of anemia are commonly found, due to the association between T-LGLL and erythroid hypoplasia . [12] Sites of involvement [ edit ] The leukemic cells of T-LGLL can be found in peripheral blood , bone marrow , spleen , and liver . Nodal involvement is rare. [1] [7] Cause [ edit ] The postulated cells of origin of T-LGLL leukemia are transformed CD8+ T-cell with clonal rearrangements of β chain T-cell receptor genes for the majority of cases and a CD8- T-cell with clonal rearrangements of γ chain T-cell receptor genes for a minority of cases. [1] Diagnosis [ edit ] Laboratory findings [ edit ] The requisite lymphocytosis of this disease is typically 2-20x10 9 /L. [12] Immunoglobulin derangements including hypergammaglobulinemia, autoantibodies, and circulating immune complexes are commonly seen. [10] [13] [14] [15] Peripheral blood [ edit ] The neoplastic lymphocytes seen in this disease are large in size with azurophilic granules that contains proteins involved in cell lysis such as perforin and granzyme B . [16] Flow cytometry is also commonly used. [17] Bone marrow [ edit ] Bone marrow involvement in this disease is often present, but to a variable extent. ... Acta Clinica Croatica . 57 (2): 362–365. doi : 10.20471/acc.2018.57.02.18 . ... "Laboratory findings and clinical courses of 33 patients with granular lymphocyte-proliferative disorders". Leukemia . 7 (6): 782–8. PMID 8388971 . ^ a b Loughran TP, Starkebaum G, Aprile JA (March 1988).
    STAT3, STAT5B, NCAM1, SOAT1, IL15, STAT1, B3GAT1, TRBV20OR9-2, MS4A1, IL2, VDR, KRT20, TNFAIP3, TRG, TRD, NCR1, KLRK1, CNTN2, PKHD1L1, MICA, CASP8, SBF1, RAB4A, MAP3K5, JAK3, IL15RA, IFNG, HTC2, HRES1, CXCR3, ERBB4, CSF3, CCR5, CD28, KLRC4-KLRK1
    • T-Cell Large Granular Lymphocyte Leukemia Orphanet
      T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.
    • T-Cell Large Granular Lymphocyte Leukemia GARD
      T-cell large granular lymphocyte leukemia is a rare cancer of a type of white blood cells called lymphocytes. T-cell large granular lymphocyte leukemia causes a slow increase in white blood cells called T lymphocytes, or T cells, which originate in the lymph system and bone marrow and help to fight infection. This disease usually affects people in their sixties. Symptoms include anemia; low levels of platelets (thrombocytopenia) and infection-fighting neutrophils ( neutropenia ) in the blood; and an enlarged spleen . About one-third of patients are asymptomatic at the time of diagnosis. The exact cause of LGL leukemia is unknown. Doctors can diagnose this disease through a bone marrow biopsy , or by using a specialized technique in which various types of blood or bone marrow cells are separated, identified, and counted.
  • Primary Hyperparathyroidism Wikipedia
    Contents 1 Signs and symptoms 2 Causes 3 Diagnosis 4 Treatment 4.1 Surgery 4.2 Medications 5 Epidemiology 6 Children 7 Research directions 8 See also 9 References 10 External links Signs and symptoms [ edit ] The signs and symptoms of primary hyperparathyroidism are those of hypercalcemia. ... Recently, it was demonstrated that liquidators of the Chernobyl power plant are faced with a substantial risk of primary hyperparathyroidism, possibly caused by radioactive strontium isotopes . [7] Diagnosis [ edit ] The diagnosis of primary hyperparathyroidism is made by blood tests. ... "The parathyroid as a target for radiation damage". N. Engl. J. Med . 365 (7): 676–8. doi : 10.1056/NEJMc1104982 . ... "Alendronate in primary hyperparathyroidism: a double-blind, randomized, placebo-controlled trial" . J. Clin. Endocrinol. Metab . 89 (7): 3319–25. doi : 10.1210/jc.2003-030908 .
    CDC73, PTH, CASR, MEN1, CDKN1B, GCM2, GNA11, AP2S1, VDR, RET, HPT, CTNNB1, CALCA, FGF23, ALB, PTHLH, KL, DMD, BEST1, IL6, NAT10, CCL27, PDLIM3, GRN, GNA12, TNFRSF11B, ASRGL1, NR3C2, CHGA, SLPI, ATRNL1, SPINK1, ALPP, ATHS, CCND1, CFTR, DCTN6, TNFSF10, LPAR3, RAPGEF5, TNFRSF11A, BCAR1, AIP, ZNRD2, ADGRG2, ADAMTS4, ADM, LGR6, HAVCR1, OXER1, TMX2-CTNND1, TMED7-TICAM2, GPR166P, VN1R17P, MIR30E, MIR28, TICAM2, MRGPRX1, GPRC6A, GPR151, DERL2, MRGPRX4, MRGPRX3, CRISPLD2, SLC26A6, RGS5, ZNF410, ADAMTS9, SDHAF2, TMED7, TNFSF11, SDHC, FZD4, ACE, IGFBP3, IGF1, IFI27, GCG, GC, ESR1, EMP1, DMP1, DBP, IL17A, CYP19A1, CTNND1, CSE1L, CD38, BTF3P11, BGLAP, APRT, APC, IL11, JAK2, FZD1, RASA1, FZD5, WNT10B, TNF, TAT, ADAM17, SPP1, SLC12A1, AGT, PTMS, KCNQ1, PSMD9, PRSS2, PRLR, NOS3, MIP, MFAP1, LRP5, LRP2, H3P23
    • Primary Hyperparathyroidism GARD
      Hyperparathyroidism is an endocrine disorder in which the parathyroid glands in the neck produce too much parathyroid hormone (PTH). Signs and symptoms are often mild and nonspecific, such as a feeling of weakness and fatigue, depression, or aches and pains. With more severe disease, a person may have a loss of appetite, nausea, vomiting, constipation, confusion or impaired thinking and memory, and increased thirst and urination. Patients may have thinning of the bones without symptoms, but with risk of fractures. There are two main types of hyperparathyroidism: primary hyperparathyroidism and secondary hyperparathyroidism .
  • Filariasis Wikipedia
    Contents 1 Signs and symptoms 2 Cause 3 Diagnosis 3.1 Concentration methods 4 Treatment 5 Society and culture 5.1 Research teams 5.2 Prospects for elimination 6 Other animals 6.1 Cattle 6.2 Horses 6.3 Dogs 7 See also 8 References 9 Further reading 10 External links Signs and symptoms [ edit ] The most spectacular symptom of lymphatic filariasis is elephantiasis – edema with thickening of the skin and underlying tissues—which was the first disease discovered to be transmitted by mosquito bites. [2] Elephantiasis results when the parasites lodge in the lymphatic system . ... Treatment [ edit ] The recommended treatment for people outside the United States is albendazole combined with ivermectin . [5] [6] A combination of diethylcarbamazine and albendazole is also effective. [5] [7] Side effects of the drugs include nausea, vomiting, and headaches. [8] All of these treatments are microfilaricides; they have no effect on the adult worms. ... This drug has shown signs of inhibiting the reproduction of the bacteria, further inducing sterility. [7] Clinical trials in June 2005 by the Liverpool School of Tropical Medicine reported an eight-week course almost completely eliminated microfilaraemia. [14] [ non-primary source needed ] [15] Society and culture [ edit ] Research teams [ edit ] In 2015 William C. ... Lancet . 376 (9747): 1175–85. doi : 10.1016/s0140-6736(10)60586-7 . PMID 20739055 . S2CID 29589578 . ^ Turkington CA. ... PMID 17078904 . ^ Hoerauf A, Mand S, Fischer K, Kruppa T, Marfo-Debrekyei Y, Debrah AY, Pfarr KM, Adjei O, Buttner DW (2003), "Doxycycline as a novel strategy against bancroftian filariasis-depletion of Wolbachia endosymbionts from Wuchereria bancrofti and stop of microfilaria production", Med Microbiol Immunol (Berl) , 192 (4): 211–6, doi : 10.1007/s00430-002-0174-6 , PMID 12684759 , S2CID 23349595 ^ Taylor MJ, Makunde WH, McGarry HF, Turner JD, Mand S, Hoerauf A (2005), "Macrofilaricidal activity after doxycycline treatment of Wuchereria bancrofti: a double-blind, randomised placebo-controlled trial", Lancet , 365 (9477): 2116–21, doi : 10.1016/S0140-6736(05)66591-9 , PMID 15964448 , S2CID 21382828 ^ a b Andersson J, Forssberg H, Zierath JR (5 October 2015), "Avermectin and Artemisinin - Revolutionary Therapies against Parasitic Diseases" (PDF) , The Nobel Assembly at Karolinska Institutet , retrieved 5 October 2015 ^ Ndeffo-Mbah ML, Galvani AP (April 2017).
    IL10, IFNG, SLCO6A1, GPT2, MBL2, IL5, IL4, IGHG3, GSTK1, CHIT1, EDN1, HLA-A, TLR2, DTYMK, PRDX5, DLEU2, ALKBH1, TNFRSF18, TTR, TNF, TLR4, TGM1, HSPA8, LGALS2, IL13, CALU, F13A1, F13B, IL2, GLB1, GPT, ABO
    • Filariasis Orphanet
      A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia ; Onchocerca volvulus ; Loa loa ; Mansonella ; Dirofilaria ; and Dracunculus medinensis , respectively. Tropical eosinophilia is considered a frequent manifestation.
  • Hypertensive Heart Disease Wikipedia
    Contents 1 Signs and symptoms 2 Diagnosis 2.1 Differential diagnosis 3 Prevention 3.1 Blood pressure goals 4 Treatment 5 Epidemiology 5.1 Sex differences 5.2 Ethnic differences 6 References 7 External links Signs and symptoms [ edit ] The symptoms and signs of hypertensive heart disease will depend on whether or not it is accompanied by heart failure . ... "Hypertensive heart disease: a new clinical classification (VIA)" . e-Journal of the European Society of Cardiology Council for Cardiology Practice . 7 (20): ePub. ^ GBD 2013 Mortality and Causes of Death, Collaborators (17 December 2014). ... "The Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure: the JNC 7 report" (PDF) . JAMA . 289 (19): 2560–2572. doi : 10.1001/jama.289.19.2560 . ... "Global burden of hypertension: analysis of worldwide data" . The Lancet . 365 (9455): 217–223. doi : 10.1016/S0140-6736(05)17741-1 . ... American Journal of Cardiology . 101 (7): 1016–1022. doi : 10.1016/j.amjcard.2007.11.061 .
    NPPB, ACE, MMP2, AGTR1, AGT, NPR1, CAPN9, FGF21, ITGB1BP2, GDE1, ADRA1A, FENDRR, SOCS3, MIR155, MIR19B1, MIR25, CARMN, PGR-AS1, SLC33A1, SLC8A1, BCL10, TIMP2, REN, PPARA, OGN, MMP9, NR3C2, DPP4, CYP11B2, CTF1, ATM, MHRT
  • Paternal Depression Wikipedia
    However, the recent increase of research into paternal depression shows society's views on increasing gender equality in social roles and the changing culture on masculine and feminine concepts. [7] Stigma of men with mental illness [ edit ] How the stigma of men with mental illness influence the prevalence of seeking treatment [27] There is often stigma around mental illness, especially for men. ... Paired with gender roles and the concepts of masculinity and femininity, society views men with mental impairments as weak and vulnerable and not the stereotypical alpha male . [7] This then affects how men view their own mental disability, influencing the seeking of treatment and acceptance of the illness. [16] This cause and effect relationship can create a cycle, leading men to be disheartened and ashamed of reaching out. ... "Paternal depression in the postnatal period and child development: a prospective population study" . Lancet . 365 (9478): 2201–5. doi : 10.1016/S0140-6736(05)66778-5 . ... S2CID 13093367 . ^ Nierenberg, Cari; October 27, Contributing writer; ET, 2016 03:22am. "7 Ways Depression Differs in Men and Women" . ... Complementary Therapies in Medicine . 7 (3): 191–192. 1990–1999. doi : 10.1016/s0965-2299(99)80132-0 .
  • Aromatase Deficiency Wikipedia
    As of 2016, only 35 cases have been described in medical literature. [3] Contents 1 Signs and symptoms 1.1 Female 1.2 Male 1.3 During pregnancy 1.4 Comorbidity 1.5 Complications 1.5.1 Pregnant mother 1.5.2 Female 1.5.3 Male 2 Cause 2.1 Gene Mutation 3 Diagnosis 4 Treatment 5 History 6 See also 7 References 8 Further reading 9 External links Signs and symptoms [ edit ] The deficiency causes the virilization of XX fetuses. ... Thus, RORA deficiency is linked to aromatase deficiency, which in turn can lead to elevated testosterone levels, a proposed risk factor for autism. [6] Complications [ edit ] Pregnant mother [ edit ] Aromatase is an estrogen synthase that synthesize estrone (E1) and estradiol (E2) from Androstenedione and Testosterone respectively. [7] During pregnancy, the placenta , which is fetal tissue, synthesizes large amounts of the intermediates in the biosynthesis of the estrogens, androstenedione and testosterone , but cannot convert them to estrogens due to the absence of aromatase. [7] The levels of accumulated androgens in the mother can elevate 100-fold higher than normal cycling levels which subsequently virilise both the mother and the fetus. The mother will experience cystic acne, deepening of the voice and hirsutism. [2] However, these symptoms are normally resolved following parturition. [2] If the fetus is a male, it will develop a normal male genitalia and will proceed to grow normally and exhibit secondary male sex characteristics. [8] If the fetus is a female, it will be born with ambiguous genitalia including labioscrotal fusion and a greatly enlarged phallus . [7] Female [ edit ] Aromatase deficient female cannot synthesize estrone or estradiol in the absence of aromatase. ... With a very low level of circulating estrogen (<7pg/mL), resulting in a higher level of FSH and LH in the blood. [2] Elevated level of androgens do not contribute to harmonic skeletal muscle growth like estrogen, thus, patients exhibits eunuchoid body habitus. [4] Patients are generally tall in stature and have a pattern of persistent linear bone growth into adulthood. [2] [7] Without estrogen, the epiphyseal plates cannot fuse together properly, resulting in continuous height growth. ... Molecular Autism, May 2015 DOI: 10.1186/2040-2392-6-7 ^ a b c d Blakemore J, Naftolin F (July 2016).
    CYP19A1, BRD2, CYP2B6, ESR1, MAP3K1, SHOX
    • Aromatase Deficiency OMIM
      Bulun (1996) reviewed the clinical features of aromatase deficiency in the then-known 7 affected individuals reported to have P450arom gene defects, including 1 Japanese female infant (Shozu et al., 1991), 1 American adolescent female (Conte et al., 1994), and 2 American adult sibs, 1 female and 1 male (Morishima et al., 1995). ... The insert was located at the splice point between exon 6 and intron 6 of the normal gene, and the extra DNA fragment was the first part of intron 6 except that its initial GT was altered to GC. By transient expression in COS-7 cells, the aromatase cDNA of the patient was found to contain a protein with a trace of activity.
    • Aromatase Deficiency Orphanet
      A rare disorder that disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men. Epidemiology Fewer than 20 cases have been reported to date. Clinical description Affected female newborns present with different degrees of ambiguous genitalia, virilization and non-palpable gonads, in one case female genitalia were present. Female internal genitalia differentiation is unaffected. Ovarian cystic follicles may appear in childhood, even at birth, or adolescence when patients manifest primary amenorrhea and no pubertal growth spurt. Breasts remain hypoplastic after initial development during puberty, while pubic hairs develop in a normal fashion. Males may present with cryptorchidism, but are generally asymptomatic until after puberty when patients present with bone pain and tall stature.
    • Aromatase Deficiency MedlinePlus
      Aromatase deficiency is a condition characterized by reduced levels of the female sex hormone estrogen and increased levels of the male sex hormone testosterone. Females with aromatase deficiency have a typical female chromosome pattern (46,XX ) but are born with external genitalia that do not appear clearly female or male (ambiguous genitalia). These individuals typically have normal internal reproductive organs , but develop ovarian cysts early in childhood, which impair the release of egg cells from the ovaries (ovulation). In adolescence, most affected females do not develop secondary sexual characteristics, such as breast growth and menstrual periods. They tend to develop acne and excessive body hair growth (hirsutism).
  • Arachnoid Cyst Wikipedia
    S2CID 34344350 . ^ a b c d e f g h i j k l m "Arachnoid Cysts Information Page" . NINDS . Retrieved April 7, 2017 . ^ Gelabert-González M (2004). ... Acta Neurochir (Wien) . 113 (1–2): 42–7. doi : 10.1007/bf01402113 . PMID 1799142 . ... "Intracranial cysts in autosomal dominant polycystic kidney disease". J. Neurosurg . 83 (6): 1004–7. doi : 10.3171/jns.1995.83.6.1004 . ... "Haemorrhage into an arachnoid cyst: a serious complication of minor head trauma" . Emerg Med J . 19 (4): 365–6. doi : 10.1136/emj.19.4.365 . PMC 1725893 . ... "Arachnoid cysts do not contain cerebrospinal fluid: A comparative chemical analysis of arachnoid cyst fluid and cerebrospinal fluid in adults" . Cerebrospinal Fluid Res . 7 : 8. doi : 10.1186/1743-8454-7-8 .
    ACO2, OFD1, ARID2, POLR3H, DNAJC19, TICRR, SHANK3, PUS3, HDAC8, PHIP, GPSM2, SACS, RTTN, KIF7, FGFR1, FGFR2, SON, NOTCH3, NEK1, LAMC2, CSF2, FOXC2, SPAST, HOXD4, NID1, COL1A2, SLC12A2, SOX2, ZIC2, WNT1, TYMS
    • Spinal Intradural Arachnoid Cysts OMIM
      Aarabi et al. (1979) reported father and daughter with surgically proven thoracic intradural arachnoid cysts. Two brothers of the father and another daughter were suspected by history to be affected also. One of these was deceased. The other two, with long-term, progressive, painless paraplegia, refused medical evaluation. The cysts were not associated with increased interpediculate distances or with distichiasis and lymphedema. The authors knew of no similar family. Spine - Thoracic intradural arachnoid cysts Neuro - Progressive, painless paraplegia Inheritance - Autosomal dominant ▲ Close
    • Arachnoid Cyst Orphanet
      A disorder with extraparenchymal cysts, intra-arachnoidal collections of fluid, the composition of which is close to that of cerebrospinal fluid. They are often asymptomatic. Epidemiology Studies carried out since the advent of MRI and CT suggest that the prevalence is higher than previously thought, perhaps as high as 1 per 5000. In neurosurgery case series, cysts are more commonly located in the temporo-sylvian fossae. Temporal cysts are significantly more frequent in males than in females (4:1), while cysts in other locations do not show preponderance for a specific gender. A significant predominance of left-sided temporal cysts is found in males (2:1).
    • Arachnoid Cysts, Intracranial OMIM
      Description Arachnoid cysts are extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid. They account for approximately 1% of intracranial space-occupying lesions, although studies since the advent of CT scanning suggest a higher percentage. A striking male preponderance has been observed (summary by Wilson et al., 1988). Clinical Features Handa et al. (1981) reported 2 brothers, aged 10 months and 3 years, with macrocrania and bilateral arachnoid cysts in the middle cranial fossa. They cited a Japanese report of 2 affected brothers. Pomeranz et al. (1991) described 2 brothers and a sister with intracranial arachnoid cysts.
    • Arachnoid Cysts GARD
      Arachnoid cysts are sacs filled with cerebrospinal fluid (CSF) that are located between the brain or spinal cord and the arachnoid membrane, one of the three membranes that cover the brain and spinal cord. Arachnoid cysts can be primary or secondary. Primary arachnoid cysts are congenital (present at birth), resulting from abnormal development of the brain and spinal cord during early pregnancy. Secondary arachnoid cysts are less common, and result from head injuries, meningitis, tumors, or as a complication of brain surgery. Signs and symptoms depend on the location and size of the cyst and may include headache, nausea and vomiting, seizures, hearing and visual disturbances, vertigo , and difficulties with balance and walking. Although many affected individuals develop symptoms in the first year of life, some never develop symptoms.
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