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Sunburn
Wikipedia
World Health Organization . Retrieved 28 March 2018 . ^ "Prevention Guidelines - SkinCancer.org" . www.skincancer.org . Retrieved 28 March 2018 . ^ "Prevent skin cancer | American Academy of Dermatology" . www.aad.org . Retrieved 28 March 2018 . ^ Faurschou A, Wulf HC (April 2007). ... WHO . Retrieved 28 March 2018 . ^ "How to treat sunburn | American Academy of Dermatology" . www.aad.org . Retrieved 28 March 2018 . ^ "Sunburn – Home Treatment" .
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Trichinosis
Wikipedia
If larvae do encyst in skeletal muscle cells, they can remain infectious for months to years. [14] Primary treatment [ edit ] Early administration of anthelmintics , such as mebendazole or albendazole , decreases the likelihood of larval encystation, particularly if given within three days of infection. [12] However, most cases are diagnosed after this time. [14] In humans, mebendazole (200–400 mg three times a day for three days) or albendazole (400 mg twice a day for 8–14 days) is given to treat trichinosis. [27] These drugs prevent newly hatched larvae from developing, but should not be given to pregnant women or children under two years of age. [10] Secondary treatment [ edit ] After infection, steroids , such as prednisone , may be used to relieve muscle pain associated with larval migration. [ citation needed ] Vaccine research [ edit ] Researchers trying to develop a vaccine for Trichinella have tried to using either "larval extracts, excretory–secretory antigen, DNA, or recombinant antigen protein." [28] Currently, no marketable vaccines are available for trichinosis, but experimental mouse studies have suggested a possibility. ... A DNA vaccine tested on mice "induced a muscle larvae burden reduction in BALB/c mice by 29% in response to T. spiralis infection". [28] Epidemiology [ edit ] Pork sausages eaten raw by consumers caused an outbreak of trichinellosis in 2015 in France. ... Archived from the original on 2007-01-28 . Retrieved 2007-01-28 . ^ United States Department of Agriculture . ... Archived from the original on 2006-09-29 . Retrieved 2007-01-28 . ^ a b USDA Animal and Plant Health Inspection Service APHIS – Veterinary Services. ... Archived from the original on 2006-01-28 . Retrieved 2006-01-27 . CS1 maint: archived copy as title ( link ) ^ Roy, Sharon, Adriana Lopez, and Peter Schantz.
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Miscarriage
Wikipedia
Risk factors are those things that increase the likelihood of having a miscarriage but don't necessarily cause a miscarriage. Up to 70 conditions, [1] [5] [28] [29] [30] [31] infections, [32] [33] [34] medical procedures, [35] [36] [37] lifestyle factors, [7] [8] [38] [39] [40] occupational exposures, [11] [41] [42] chemical exposure, [42] and shift work are associated with increased risk for miscarriage. [43] Some of these risks include endocrine , genetic , uterine , or hormonal abnormalities , reproductive tract infections , and tissue rejection caused by an autoimmune disorder . [44] Trimesters [ edit ] First trimester [ edit ] Chromosomal abnormalities found in first trimester miscarriages Description Proportion of total Normal 45–55% Autosomal trisomy 22–32% Monosomy X (45, X) 5–20% Triploidy 6–8% Structural abnormality of the chromosome 2% Double or triple trisomy 0.7–2.0% [45] Translocation Unknown [46] Most clinically apparent miscarriages (two-thirds to three-quarters in various studies) occur during the first trimester. [1] [32] [47] [48] About 30% to 40% of all fertilized eggs miscarry, often before the pregnancy is known. [1] The embryo typically dies before the pregnancy is expelled; bleeding into the decidua basalis and tissue necrosis causes uterine contractions to expel the pregnancy. [48] Early miscarriages can be due to a developmental abnormality of the placenta or other embryonic tissues. ... Anatomical differences are common and can be congenital. [ citation needed ] Type of uterine structure Miscarriage rate associated with defect References Bicornate uterus 40–79% [28] [29] Septate or unicornate 34–88% [28] Arcuate Unknown [28] Didelphys 40% [28] Fibroids Unknown [32] In some women, cervical incompetence or cervical insufficiency occurs with the inability of the cervix to stay closed during the entire pregnancy. [33] [39] It does not cause first trimester miscarriages. ... Developments in ultrasound technology (in the early 1980s) allowed them to identify earlier miscarriages. [146] According to French statutes, an infant born before the age of viability, determined to be 28 weeks, is not registered as a 'child'. ... Clinical Obstetrics & Gynaecology . 28 (1): 169–78. doi : 10.1016/j.bpobgyn.2013.08.012 . ... Archived from the original on July 28, 2017 . Retrieved September 9, 2017 .JAK2, MGP, AGTR1, IGF2, PGF, NCAM1, CSRNP3, MUC4, CEACAM6, ACE2, PAEP, MMP15, LGALS14, MMP26, PRLR, KLK10, MMP19, MMP11, MMP12, PTHLH, MMP7, MGAT2, MAP2, LIF, LGALS3, LAMA4, SDF2L1, CD82, ITGB6, ITGB4, PTGIS, RBP4, INHA, TNFSF10, MAPRE3, IL24, DIAPH2-AS1, CD226, SPAG5, IFI44, FST, CRISP3, FETUB, CHIA, CD163, CD84, CD164, TNFSF13, PCDHA3, ACKR4, IL20RA, TRAF1, TNR, TIMP3, TIMP2, TGFBR1, TGFBI, TGFB1, TFRC, SST, SERPINB4, SERPINB3, CXCL10, FLRT3, IL16, IFI6, CEACAM1, FGF7, CD7, EMP1, ECM1, ECM2, CD8A, CD68, DHFR, CD69, CEACAM5, CYP24A1, COL1A1, CYP1A1, CSF3, COL13A1, COL9A2, COL6A3, COL6A1, COL1A2, COL5A2, COL4A6, FN1, ARNT, IGF1, IL12B, IL11, IL9, IL6, AHR, IL5RA, IL1B, IGFBP6, IGFBP3, ALPG, IGFBP1, IFNA10, IFI35, HSD17B1, APOE, HABP2, GLS, COL5A1, MCIDAS, DNAAF3, NME8, DNAJB13, DNAH1, STK36, ZMYND10, DNAI1, RSPH4A, DNAAF2, HYDIN, CCDC151, CFAP300, RSPH1, DNAL1, DRC1, CCDC114, TTC25, DNAI2, LRRC56, MTMR14, DNAAF1, DNAAF5, CFAP298, PIH1D3, DNAAF4, RSPH9, CCDC65, GAS2L2, ARMC4, CCDC39, CCDC40, RSPH3, CCDC103, LRRC6, MPL, HOXA13, GAS8, FGG, FGB, FGA, RPGR, RYR1, SPAG1, THPO, DNM2, DNAH5, WRN, XIST, OFD1, DNAH11, BIN1, ALB, GPHN, CCNO, MYF6, MTHFR, HLA-G, ACP1, NOS3, SERPINE1, TYMS, NCR1, NCR2, AR, ASPH, CYP1B1, NCR3, ACE, GNLY, TNFRSF1A, MBL2, PGR, PAPPA, IL1RN, ITGB3, KIR2DL1, KIR2DL2, POMC
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Angina
Wikipedia
Archived from the original on March 30, 2010 . Retrieved April 28, 2010 . ^ "What Is Angina?" . National Heart Lung and Blood Institute . Retrieved April 28, 2010 . ^ Kaski (editor), Juan Carlos (1999). ... PMID 22389117 . ^ Sun, Hongtao; Mohri, Masahiro; Shimokawa, Hiroaki; Usui, Makoto; Urakami, Lemmy; Takeshita, Akira (28 February 2002). "Coronary microvascular spasm causes myocardial ischemia in patients with vasospastic angina". ... PMID 11869851 . ^ a b Levine, Glenn N.; Steinke, Elaine E.; Bakaeen, Faisal G.; Bozkurt, Biykem; Cheitlin, Melvin D.; Conti, Jamie Beth; Foster, Elyse; Jaarsma, Tiny; Kloner, Robert A. (2012-02-28). "Sexual Activity and Cardiovascular Disease A Scientific Statement From the American Heart Association" . ... ISBN 978-0071422802 . ^ Podrid, Philip J (November 28, 2012). "Pathophysiology and clinical presentation of ischemic chest pain" .AVP, PLAU, APOE, LDLR, GLA, CRELD1, ABCG8, ABCG5, GATA4, GATA6, XYLT2, XYLT1, NR2F2, LMNA, LCAT, JAK2, HLA-DPA1, HLA-DPB1, LDLRAP1, IDUA, LIPC, CYP27A1, TET2, PRTN3, ZMPSTE24, CTLA4, SCN5A, PTEN, MPL, ENPP1, PIGA, PCSK9, PTPN22, ABCC6, VEGFA, PMM2, APOB, ACE, CRP, CAD, CCS, IL6, SERPINE1, ITGB2, TNNI3, DLD, CXCL16, OXCT1, LAD1, SERPINA5, PLA2G1B, APOA1, TNF, NOS3, PLB1, KLF14, PLA2G7, PLA2G6, YWHAZ, IL37, NEAT1, VIP, MIR208A, MIR34A, MIR499A, TNFRSF1B, ZGLP1, CYP4F2, PROM1, TNFSF10, CPSF4, HDL3, MOCOS, QRSL1, POC1A, TBC1D9, JTB, ZC4H2, CMAS, SELL, EHMT1, PPP1R2C, FERMT3, ADIPOQ, WASF1, NLRP3, NR1I2, FGF21, ADAM10, CCL2, EDN1, ICAM1, HSPA5, GNB3, GLP1R, GLB1, GDF10, GCG, FGF4, F5, F3, CYP19A1, RENBP, CPB2, CLCN1, CETP, CD34, CD14, VPS51, KLK3, APOC3, ALB, AGTR1, IFNG, IGF2R, IL1A, IL1B, PYGM, PRKCD, PLXNA2, PLA2G2A, ABCB1, PAPPA, CNTN3, ADRB1, OPA1, NOS2, NOS1, MPI, MMP3, SMCP, LPA, KDR, ITGA2B, IL10, CXCL8, IL7, IL1RN, LINC02605
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Exhibitionism
Wikipedia
The Mirror . 2003-09-09 . Retrieved 2007-07-28 . ^ "Today's media stories from the papers" . The Guardian. 2003-09-09 . Retrieved 2007-07-28 . ^ "Urban Legends Reference Pages: Indecent Exposure" . ... The Register. 2005-07-01 . Retrieved 2007-07-28 . ^ "eBayer goes for bust in ashtray auction" . The Register. 2006-06-19 . Retrieved 2007-07-28 . ^ "eBay in wing-mirror reflectoporn shocker" . The Register. 2006-07-14 . Retrieved 2007-07-28 . ^ "Reflectoporn@Everything2.com" .
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Chiari Malformation
Wikipedia
"A new form of herniation: the Chiari V malformation". Child's Nervous System . 28 (2): 305–7. doi : 10.1007/s00381-011-1616-5 . ... Journal of Neurosurgery . 104 (1 Suppl): 28–32. doi : 10.3171/ped.2006.104.1.28 . ... "Chiari V or Chiari II plus?". Child's Nervous System . 28 (3): 337–8, author reply 339. doi : 10.1007/s00381-011-1654-z . ... Case Based Pediatrics For Medical Students and Residents . Archived from the original on May 28, 2010. ^ "Code 453.0: Budd-Chiari Syndrome" . 2008 ICD-9-CM Diagnosis . ... Archived from the original on July 4, 2011 . Retrieved December 28, 2012 . [ full citation needed ] ^ Nolte J.ERF, FUZ, FGFR3, SKI, POLR3A, CHD4, SON, CLIP2, ZIC1, HMGA2, BAZ1B, GTF2IRD1, TMEM94, SIK3, SALL1, LEMD3, TBL1XR1, TBL2, SETD2, DACT1, MKS1, RFWD3, FANCI, SC5D, RFC2, PORCN, PTEN, VANGL1, DNMT3A, ELN, FBN1, FGFR1, FGFR2, GNAQ, GTF2I, KMT2C, LIMK1, MECP2, NOTCH2, NOTCH3, PIK3CA, POR, PTCH1, LRP5, UCN2, PPP1R2C, AQP1, UNC50, ZRSR2, LAMC2, CSF2, CREBBP, UTS2B
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17q12 Recurrent Duplication
Gene_reviews
Frequency of Phenotypic Features in 46 Published Cases of 17q12 Recurrent Duplication View in own window Phenotypic Feature # of Persons with Feature / # of Persons Reported to be Examined for the Feature Intellectual disability 30/34 (88%) Dysmorphic features 25/35 (71%) Speech delay 24/28 (86%) Gross motor delay 17/29 (59%) OFC <5 th centile 16/31 (52%) Behavioral abnormalities 15/16 (94%) Skeletal abnormalities 15/19 (79%) Seizures/epilepsy 12/16 (75%) Hypotonia 11/15 (73%) Other neurologic abnormalities 11/13 (85%) Height <5 th centile 9/32 (28%) Ophthalmologic abnormalities 9/21 (43%) Weight <5 th centile 8/32 (25%) Endocrine abnormalities 6/8 (75%) Weight >95 th centile 5/32 (16%) Cardiac abnormalities 5/19 (26%) Renal abnormalities 5/21 (24%) Height >95 th centile 2/32 (6%) Based on Mitchell et al [2015] and two cases published subsequently by Bertini et al [2015] Developmental delay and intellectual disability (ID). ... However, the true incidence may be lower given variable expressivity and the ascertainment bias that is present due to the fact that most individuals who are found to have the 17q12 duplication are referred because of developmental delays or ID. Speech delay is common (24/28). Most affected individuals (17/29) have some degree of gross motor delay.
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Neonatal Stroke
Wikipedia
Neonatal stroke , similar to a stroke which occurs in adults, is defined as a disturbance to the blood supply of the developing brain in the first 28 days of life. [1] This description includes both ischemic events, which results from a blockage of vessels , and hypoxic events, which results from a lack of oxygen to the brain tissue, as well as some combination of the two. [2] [3] One treatment with some proven benefits is hypothermia , but may be most beneficial in conjunction with pharmacological agents . [4] Well-designed clinical trials for stroke treatment in neonates are lacking, but some current studies involve the transplantation of neural stem cells and umbilical cord stem cells ; it is not yet known if this therapy is likely to be successful. [4] Neonatal strokes may lead to cerebral palsy , learning difficulties, or other disabilities. [5] A neonatal stroke occurs in approximately 1 in 4000 births, but is likely much higher due to the lack of noticeable symptoms . [1] Contents 1 Presentation 2 Risk factors 3 Mechanism 4 Diagnosis 5 Prevention 6 Treatment 6.1 Therapeutic Hypothermia 6.2 Other Treatments 7 Prognosis 8 Research Direction 9 References 10 Further reading Presentation [ edit ] A neonatal stroke is one that occurs in the first 28 days of life, though a late presentation is not uncommon (as contrasted with perinatal stroke , which occurs from 28 weeks gestation through the first 7 days of life). [2] 80% of neonatal strokes are ischemic, and their presentation is varied, making diagnosis very difficult. [2] The most common manifestation of neonatal strokes are seizures , but other manifestations include lethargy, hypotonia , apnoea , and hemiparesis . [2] Seizures can be focal or generalized in nature. [6] Stroke accounts for about 10% of seizures in term neonates . [2] Disorders that Increase Risk of Neonatal Stroke Type of Disorder Disorder Maternal: Autoimmune disorders Coagulation disorders Prenatal cocaine exposure Congenital heart disease Diabetes Trauma Placental : Placental thrombosis Placental abruption Placental infection Chorioamnionitis Blood, Homocysteine , and Lipid : Polycythemia Disseminated intravascular coagulopathy Prothrombin mutation Lipoprotein (a) deficiency Factor VIII deficiency Factor V Leiden mutation Other Infectious: Central nervous system (CNS) infection Systemic infection Risk factors [ edit ] Many different risk factors play a role in causing a neonatal stroke.
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Anophthalmia
Wikipedia
Archived from the original on 2012-07-28 . Retrieved 2012-07-17 . ^ Wiese, K. ... Archived from the original on 2012-07-28 . Retrieved 2012-07-17 . ^ "What is Anophthalmia" . ... Archived from the original on 2012-07-28 . Retrieved 2012-07-17 . ^ Elliott, J; Maltby, E L; Reynolds, B (1993).SOX2, STRA6, RAX, PAX6, OTX2, BMP4, SIX6, MAB21L2, TFAP2A, RARB, HCCS, GLI2, RBP4, POMGNT1, CEP55, MKS1, CHD7, RPGRIP1, CC2D2A, BCOR, SMOC1, NDUFB11, TMEM216, WDPCP, PORCN, POMT2, GRIP1, FKRP, POMGNT2, KIF7, SOX2-OT, FREM2, HYLS1, FREM1, B3GALNT2, TMEM67, TMEM107, SH2B1, POMK, B9D2, CEP290, FRAS1, TCTN2, CSPP1, TMEM231, B9D1, CRPPA, SEMA3E, COL4A1, FANCB, NAA10, LARGE1, DAG1, COX7B, RXYLT1, FKTN, POMT1, KIF11, B4GAT1, RPGRIP1L, SMCHD1, ALDH1A3, VSX2, ANOP1, GDF6, SOX3, FOXE3, FOXC1, RBM24, ASXL1, GJA8, AVP, GH1, VAX2, HSP90AA1, IGF1, KITLG, MITF, SKI, TCF3, TCOF1, TEX11, CDK5RAP2, LHX2, SLC39A4, YAP1, VAX1, TMX3, NDP
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Peutz–jeghers Syndrome
Wikipedia
The cumulative risk for cancer was 40% and 76% at ages 40 and 70, respectively. 42 (32%) of the patients died during the study, of which 28 (67%) were cancer related. They died at a median age of 45. Mortality was increased compared with the general population. [11] A family with sinonasal polyposis were followed up for 28 years. Two cases of sinonasal type adenocarcinoma developed. ... S2CID 11627842 . ^ Chiang JM, Chen TC (2017) A Peutz-Jeghers syndrome family associated with sinonasal adenocarcinoma: 28 years follow up report. Fam Cancer doi: 10.1007/s10689-017-9983-z. ^ Familial Cancer 2002; 1:181–185) External links [ edit ] Classification D ICD - 10 : Q85.8 ICD - 9-CM : 759.6 OMIM : 175200 MeSH : D010580 DiseasesDB : 9905 External resources MedlinePlus : 000244 eMedicine : med/1807 article/182006 article/1664349 GeneReviews : Peutz-Jeghers Syndrome Orphanet : 2869 Wikimedia Commons has media related to Peutz–Jeghers syndrome .STK11, DEFA5, TP53, PTEN, CTNNB1, PTGS2, CYP19A1, COX2, H3P10, CDKN2A, MTCO2P12, TSC2, PPFIA1, KRAS, LIAS, SMARCA4, CENPJ, STK11IP, PRKAR1A, MYH11, MEN1, SMAD4, APC, CYP2B6, BRCA2, MTOR, FNDC3A, VHL, WNT5A, NKX2-5, IFITM1, NR1I2, NEK6, CDX2, CDC37, CHEK2, INHA, TSC1, TESC, BUB1, MARK4, SLC52A2, SLC25A21, STRADA, PWAR1, BRCA1, CAB39, ARID3A, IL11, APRT, SMAD2, HSP90AA1, MARK1, MSH6, MFAP1, GNAS, MUTYH, ODC1, PRKAA1, PRKAB1, EGFR, FAP, F2R, ESR1, PTPRH, REN, MAP2K4, SLC12A3, ENG, STAT3, PRKAA2
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Supertaster
Wikipedia
Blakeslee, a geneticist, to have attendees taste PTC: 65% found it bitter, 28% found it tasteless, and 6% described other taste qualities. ... Editing help is available. ( October 2016 ) Although individual food preference for supertasters cannot be typified, documented examples for either lessened preference or consumption include: Certain alcoholic beverages [19] ( gins , tequilas , and hoppy beers ) Brassica oleracea cultivars (become very sulfurous, especially if overcooked) Brussels sprouts [23] [24] [25] Cabbage [23] Kale [25] Coffee [23] Grapefruit juice [24] Cilantro or Coriander [ citation needed ] Green tea [24] Watercress , mustard greens , horseradish , dandelion greens , rutabaga and turnip [26] Soy products [24] Carbonated water [27] Mushrooms Anise and licorice Lower- sodium foods [28] Hot-spicy foods [29] Other foods may also show altered patterns of preference and consumption, but only indirect evidence exists: Tonic water – quinine is more bitter to supertasters [ citation needed ] Olives – for a given concentration, salt is more intense in supertasters [ citation needed ] See also [ edit ] Sensory processing sensitivity Tetrachromacy Hypergeusia References [ edit ] ^ Bartoshuk, L. ... Alcoholism: Clinical & Experimental Research . 28 (11): 1629–37. doi : 10.1097/01.ALC.0000145789.55183.D4 .
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True Hermaphroditism
Wikipedia
In January 2015, the Court of Appeals for the Fourth Circuit reversed this decision and dismissed the complaint, stating that, "it did not “mean to diminish the severe harm that M.C. claims to have suffered” but that a reasonable official in 2006 did not have fair warning from then-existing precedent that performing sex assignment surgery on sixteen-month-old M.C. violated a clearly established constitutional right." [28] The Court did not rule on whether or not the surgery violated M.C.'s constitutional rights. [29] State suits were subsequently filed. [28] In July 2017, it was reported that the case had been settled out of court by the Medical University of South Carolina for $440,000. ... PMID 22953283 . ^ a b c Bayraktar, Zeki (28 February 2017). "Potential autofertility in true hermaphrodites".
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Degenerative Disease
Wikipedia
It might still be possible to alleviate the symptoms . [1] Examples [ edit ] Alzheimer's disease (AD) [5] Amyotrophic lateral sclerosis [5] (ALS, Lou Gehrig's disease ) Cancers [1] Charcot–Marie–Tooth disease (CMT) [6] Chronic traumatic encephalopathy [7] Cystic fibrosis [8] Some cytochrome c oxidase deficiencies (often the cause of degenerative Leigh syndrome ) [9] Ehlers–Danlos syndrome [10] Fibrodysplasia ossificans progressiva Friedreich's ataxia [11] Frontotemporal dementia (FTD) [12] Some cardiovascular diseases (e.g. atherosclerotic ones like coronary artery disease , aortic stenosis etc.) [13] Huntington's disease [4] Infantile neuroaxonal dystrophy [14] Keratoconus (KC) [15] Keratoglobus [16] Leukodystrophies [17] Macular degeneration (AMD) [18] Marfan's syndrome (MFS) [19] Some mitochondrial myopathies [20] Mitochondrial DNA depletion syndrome [21] Multiple sclerosis (MS) [22] Multiple system atrophy [23] Muscular dystrophies (MD) [24] Neuronal ceroid lipofuscinosis [25] Niemann–Pick diseases [26] Osteoarthritis [27] Osteoporosis [27] Parkinson's disease [5] Pulmonary arterial hypertension [28] All prion diseases ( Creutzfeldt-Jakob disease , fatal familial insomnia etc.) [5] Progressive supranuclear palsy [29] Retinitis pigmentosa (RP) [30] Rheumatoid arthritis [31] Sandhoff Disease [32] Spinal muscular atrophy (SMA, motor neuron disease) [33] Subacute sclerosing panencephalitis [34] Substance Use Disorder [35] Tay–Sachs disease [32] Vascular dementia (might not itself be neurodegenerative, but often appears alongside other forms of degenerative dementia) [36] See also [ edit ] Life extension Senescence Progressive disease List of genetic disorders References [ edit ] ^ a b c d e "What is Degenerative Disease" . docdoc.com.sg . ... Archived from the original on 2018-07-28 . Retrieved 2018-09-17 . ^ a b Nopoulos, PC (2016). ... "The pathogenesis of keratoconus" . Eye . 28 (2): 189–195. doi : 10.1038/eye.2013.278 .GOT2, AIMP1, NQO1, APLP2, CLEC16A, ATG7, LRRK2, CAT, AMH, SMN1, SMN2, RHO, FXN, DMD, STMN1, SNURF, VCP, SNRPN, RPE65, BEST1, SPTLC1, OAT, AR, SOD1, HTT, TIMP3, LMNA, IL1B, IL6, NFE2L2, GABPA, MAPT, AIPL1, IL1A, DYSF, ABCA4, CHM, EPO, TRH, TTR, CFDP1, SIGMAR1, TBPL1, GPR151, LPAR2, RSS, SQSTM1, APLN, OXER1, FGF18, PLF, UCHL1, RIPK1, PLA2G6, FZD4, MRGPRX4, TYRP1, MFSD8, MRGPRX1, H19, VEGFA, VN1R17P, GPR166P, GPRC6A, TRPV4, MRGPRX3, RTBDN, ANKH, VPS35, ATF7IP, ELP3, SIRT6, DCTN4, LGR6, IMPG2, GEMIN4, CEP290, IL22, FBXO9, TNF, KHDRBS1, FBXO7, SLC4A11, FBXO32, NUP62, LPAR3, CLCF1, CRB1, SIRT1, DACH2, SNRNP200, CXCR6, ACKR3, NAT2, ATXN7, TIA1, IGHMBP2, GTF2H1, GPR42, MSTN, GAA, FUS, FMR1, FLNA, FGF5, F13B, F13A1, EIF4G2, EDNRA, DIO2, DDIT3, CTF1, CORD1, CNTF, CLN3, CHIT1, CHI3L1, CFTR, CAPN1, CACNA1A, BRS3, BCHE, STS, APP, ADRA2B, ADRA1A, HSPD1, IL17A, TGM1, LMNB1, SSTR4, SPAST, SNRPB, SMS, SLC18A2, SGSH, SALL1, RTN2, RS1, RPGR, PRPH2, PSMD2, PRNP, PIK3CG, PIK3CD, PIK3CB, PIK3CA, SERPINI1, PHB, PGF, NOTCH3, MYOG, MVD, NUDT1, MTF1, MMP3, ATXN3, MITF, LPL, MIR497
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Juvenile Myoclonic Epilepsy
Wikipedia
"Epidemiology of juvenile myoclonic epilepsy". Epilepsy Behav . 28 Suppl. 1: S15–17. doi : 10.1016/j.yebeh.2012.06.024 . ... "Chronodependency and provocative factors in juvenile myoclonic epilepsy". Epilepsy Behav . 28 Suppl 1: S25-9. doi : 10.1016/j.yebeh.2012.11.045 . ... "The quest for juvenile myoclonic epilepsy genes". Epilepsy Behav . 28 Suppl 1: S52-7. doi : 10.1016/j.yebeh.2012.06.033 .EFHC1, GABRA1, CACNB4, JRK, KCNQ3, CLCN2, GABRD, CILK1, BRD2, CTF1, CHRNA4, EJM2, GABRG2, GJD2, GRM4, SCN1A, CSTB, GABRB3, SEC14L2, ME2, CHRNA7, KCNQ2, KCND3, TRPM2, IGHE, TAP1, EFHC2, GJA8, GABBR1, REM1, RMDN1, PADI4, LGSN, BCL9, SLC12A5, RMDN3, LRRC1, SYBU, CPA6, CLOCK, MMEL1, DHX40, NPL, CHRFAM7A, RBM45, RMDN2, MED19, SLC12A6, SELENOP, ABCG2, KCNJ3, CASR, DNMT1, ATN1, EXT1, F2, GABRA5, HLA-DPB1, HLA-DQA1, HLA-DRB1, HLA-F, KCNJ6, TOP3B, CFP, ABCB1, PLXNB1, HCN2, SLC6A4, SLC12A2, TFAP2B, ALDH5A1, PER3, PER2, STIN2-VNTR
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Hypogonadotropic Hypogonadism 24 Without Anosmia
Omim
Lindstedt et al. (1998) reported a 28-year-old Serbian man who presented with infertility in both his first and second marriages, despite normal puberty and virilization as well as normal libido. ... His unaffected parents and brother were heterozygous for the deletion. In a 28-year-old Serbian man with infertility, azoospermia, and undetectable FSH, Lindstedt et al. (1998) analyzed the FSHB gene and identified homozygosity for a missense mutation (C82R; 136530.0004).
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Premature Chromatid Separation Trait
Omim
The individuals were referred for chromosome studies: a 27-year-old woman with recurrent early spontaneous abortion; a 24-year-old male who had cancer radiotherapy for seminoma of the testes; and a 28-year-old woman with infertility. Whereas control cell cultures showed 0.5% to 1% mitosed demonstrating premature separation, cells from the probands and their affected family members showed 5% to 61.5% premature separation. ... Fitzgerald et al. (1986) reported a clinically normal 28-year-old woman who had 3 conceptuses with trisomy 21 and 1 normal child.
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Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness
Omim
Miyamura et al. (2003) reported a Japanese man who was born of consanguineous parents and had congenital sensorineural deafness but was not diagnosed with Bartter syndrome until age 28 years, when he presented with fatigue, numbness and weakness in both legs, and polydipsia. ... In a Japanese man who was born of consanguineous parents and had congenital sensorineural deafness and mild Bartter syndrome that went undiagnosed until 28 years of age, Miyamura et al. (2003) identified homozygosity for a missense mutation in the BSND gene (G47R; 606412.0008).KCNJ1, CLCNKB, SLC12A1, BSND, REN, CLCNKA, SLC12A3, SCNN1B, CYP17A1, CASR, MAGED2, CLC, GH1, SHBG, ESPN, SLC12A2, SSTR4, SELENBP1, IGAN1, AP3B1, LPAR2, PTGS2, CXCR6, ACKR3, CCHCR1, TRIP13, ADRA1A, PTH, PPP1R12A, AGT, AGTR1, BRS3, CLCN5, CYP11B1, DBP, DCT, SLC26A3, EDNRA, EPHA3, FGL1, GJB2, GPR42, HPS1, HSD11B2, ADRA2B, KCNJ10, ARHGEF25
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Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Omim
Neuroimaging of both sibs showed findings consistent with bilateral cerebral intramedullary venous thrombosis occurring at under 28 weeks' gestation for the older sister and around time of birth for the younger sister. ... One had recurrent venous thrombosis starting at the age of 28 years, and the other was still asymptomatic at 38 years despite exposure to thrombotic risk factors.
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Diffuse Myelinoclastic Sclerosis
Wikipedia
Archived from the original on 2009-09-23 . Retrieved 2009-05-28 . ^ Poser CM, Goutières F, Carpentier MA, Aicardi J (1986). ... Myelinoclastic diffuse sclerosis (Schilder’s disease) is immunologically distinct from multiple sclerosis: results from retrospective analysis of 92 lumbar punctures, Journal of Neuroinflammation, 28 Feb. 2019, https://doi.org/10.1186/s12974-019-1425-4 ^ Pretorius ML, Loock DB, Ravenscroft A, Schoeman JF (1998).
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Slow Virus
Wikipedia
Prions: cause diseases that are confined to the CNS have a prolonged incubation period follow a slow, progressive, fatal course of disease produce a spongiform encephalopathy characteristically result in vacuolation of neurons can cause formation of fibrillar aggregates, which contain PrP and have amyloid -like characteristics [15] Some examples of prion diseases [ edit ] Disease Typical length of progression to death Species affected Kuru disease 30–50 years Humans [16] Fatal familial insomnia 8–75 months Humans [17] Bovine spongiform encephalopathy 1–3 years Cows, humans See also [ edit ] Clinical latency Virus latency References [ edit ] ^ "About HIV/AIDS | HIV Basics | HIV/AIDS | CDC" . www.cdc.gov . 2019-02-28 . Retrieved 2019-03-05 . ^ PubMed Health "Subacute Sclerosing Panencephalitis" . ... Proc. Natl. Acad. Sci. U.S.A . 101 (28): 10254–9. doi : 10.1073/pnas.0400014101 .