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Trigonocephaly
Wikipedia
Optima Grafische Communicatie. ISBN 978-90-8559-601-1 . ^ Wilkie, AO (1997). ... Child's Nervous System . 23 (3): 269–81. doi : 10.1007/s00381-006-0251-z . ... Plastic and Reconstructive Surgery . 97 (2): 276–81. doi : 10.1097/00006534-199602000-00002 . ... Journal of Neurosurgery . 45 (4): 376–81. doi : 10.3171/jns.1976.45.4.0376 . ... "Endoscopic craniectomy for early surgical correction of sagittal craniosynostosis" . Journal of Neurosurgery . 88 (1): 77–81. doi : 10.3171/jns.1998.88.1.0077 .
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Complete Androgen Insensitivity Syndrome
Wikipedia
<0.6 <3.2–25 SHBG (nmol/L) ? ? ? 52 (22–128) 53 (15–99) ? 10–50 30–90 Notes: Values are mean (range) or mean ± standard deviation. ... PMID 18930210 . ^ Melo KF, Mendonca BB, Billerbeck AE, Costa EM, Inácio M, Silva FA, Leal AM, Latronico AC, Arnhold IJ (July 2003). ... "A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family". Fertil. Steril . 89 (5): 1260.e3–7. doi : 10.1016/j.fertnstert.2007.04.057 . ... Clin. Endocrinol. Metab . 29 (4): 569–80. doi : 10.1016/j.beem.2015.04.005 . ... Trends Endocrinol. Metab . 3 (3): 75–81. doi : 10.1016/1043-2760(92)90016-T .AR, FKBP4, SMS, PLAT, RSS, MTNR1B, LBX1, ESR1, LEP, MATN1, IL6, EGFR, ESR2, ADGRG6, PAICS, GART, MTHFR, C20orf181, IGF1, CALM1, F5, TPH1, MT2A, AMH, MTNR1A, MMP3, TSPAN33, TP53, TMPRSS6, BNC2, TNFRSF11B, SIRT1, NTF3, SLC39A8, NCOA2, FBN1, FBN2, LEPR, PYCARD, PAX1, PDXP, GPER1, GPX3, SERPINE1, TIMP2, SHBG, BRD2, TGFB1, SULT1E1, MIR494, VDR, SRY, STS, VEGFA, BDNF, MIR15A, EOS, TP63, ADIPOQ, CST3, IS1, PITX1, SOCS3, POC5, PON1, CTNNB1, PROM1, KAT7, GPR50, PDAP1, SIRT5, TUSC2, PAPOLA, NDRG1, TXN, ADAMTS13, MSC, MRPS30, AKR1C3, CHL1, BEST1, VWF, MYBBP1A, USP8, SMUG1, UXT, TNFSF11, ASAP2, GDF15, AANAT, TMEFF2, MIR145, DPP9, NLRP3, OCIAD2, HJV, NEAT1, C17orf67, SPATA21, MIRLET7I, MIR126, MIR130A, MIR134, MIR183, HECTD1, MIR185, MIR191, MIR192, MIR222, MIR93, PALM2AKAP2, MT1IP, MIR675, CDKN2B-AS1, MIR4300, OCLN, ADGRG7, IL17RC, DOT1L, SPRY4, SETBP1, CNTNAP2, PELP1, CD274, TBX21, ASAP1, ADIPOR1, APH1A, CLEC1B, TNF, MTPAP, LAPTM4B, SOX6, MIB1, PCDH10, MIER1, MID1IP1, SOX17, NUCKS1, AHNAK, IRX1, FUZ, VANGL1, HSD17B7, PSMD4, TIMP1, DLST, CLTC, COL4A2, COL11A1, COL11A2, COMP, MAP3K8, CREBBP, CRP, CYP2C19, DBP, DMD, CHI3L1, DPP4, DUSP2, EPO, F2, F3, FGFR3, FGR, FN1, NR5A1, GAD1, CLU, CDKN2A, THRSP, ASL, ACP3, ACTB, ADRA1D, ALB, APC, APOD, APOE, ARF6, ARG1, ARSF, ATP2A2, CDH13, ATP2B4, BGLAP, BMP4, BTF3P11, CALCA, CALM2, CALM3, CASP3, RUNX2, CD38, GC, GHSR, MSH6, ABO, MT1L, MT1X, NRGN, REG3A, PAX3, PBX1, PLG, PMCH, MAPK7, PSD, RARB, HDAC2, PRPH2, S100A12, SFPQ, SRSF1, ITSN1, SLC4A1, SOX9, SRD5A2, STAT4, TGM2, MT1M, MT1JP, MT1H, MT1G, HGF, HOXA10, HSPG2, IGFBP7, IL1A, IL1B, IL5, IL10, ITGA2B, KLK1, KRAS, LCN2, LGALS1, LGALS3, LRPAP1, KITLG, MKI67, MT1A, MT1B, MT1E, MT1F, H3P10
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Idiopathic Intracranial Hypertension
Wikipedia
In a systematic analysis of 19 studies with 207 cases, there was an 87% improvement in overall symptom rate and 90% cure rate for treatment of papilledema. ... Archives of Disease in Childhood . 78 (1): 89–94. doi : 10.1136/adc.78.1.89 . PMC 1717437 . ... "Idiopathic intracranial hypertension and visual function" . British Medical Bulletin . 79–80 (1): 233–44. CiteSeerX 10.1.1.131.9802 . doi : 10.1093/bmb/ldl019 . ... Neurology . 60 (9): 1418–24. doi : 10.1212/01.wnl.0000066683.34093.e2 . PMID 12743224 . ^ a b c d Ahmed, RM; Wilkinson, M; Parker, GD; Thurtell, MJ; Macdonald, J; McCluskey, PJ; Allan, R; Dunne, V; Hanlon, M; Owler, BK; Halmagyi, GM (Sep 2011). ... "Rapidly rising incidence of cerebrospinal fluid shunting procedures for idiopathic intracranial hypertension in the United States, 1988-2002". Neurosurgery . 57 (1): 97–108, discussion 97–108. doi : 10.1227/01.NEU.0000163094.23923.E5 .
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Alexithymia
Wikipedia
"An observer scale to measure alexithymia" . Psychosomatics . 41 (5): 385–92. doi : 10.1176/appi.psy.41.5.385 . ... Journal of Child Psychology and Psychiatry, and Allied Disciplines . 45 (4): 672–86. doi : 10.1111/j.1469-7610.2004.00262.x . ... Psychotherapy and Psychosomatics . 67 (2): 75–80. doi : 10.1159/000012263 . PMID 9556198 . ... Psychiatry . 42 (9): 834–44. doi : 10.1016/S0006-3223(97)00050-4 . PMID 9347133 . S2CID 10963766 . ^ Tabibnia G, Zaidel E (2005). ... Psychotherapy and Psychosomatics . 74 (2): 81–92. doi : 10.1159/000083166 . PMID 15741757 .
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Obesity In Sweden
Wikipedia
Sweden is the 90th fattest country in the world. [1] In 2009, the number of people who are considered overweight or obese had not increased for the first time in 70 years. [2] Claude Marcus , a leading Swedish nutrition expert from the Karolinska Institutet , stated that one solution is to introduce a fat tax . [3] Folksam refused to insure a 5-year-old girl from Orust . [4] The insurance company refused her insurance based on "serious overweight/obesity". [4] A report showed that children whose parents were better educated had a lower chance of becoming overweight. [5] Contents 1 Cause 2 Effects 3 Programs 4 Forbes ranking 2007 5 References Cause [ edit ] Lack of exercise along with sugar-sweetened foods and drinks have caused one out of six five-year-olds in Sweden to be overweight or obese. [5] The breakdown is 12.9% of children are considered overweight and 4.3% are considered obese . [5] Effects [ edit ] Several studies have shown that obese men tend to have a lower sperm count , fewer rapidly mobile sperm and fewer progressively motile sperm compared to normal-weight men. [6] Programs [ edit ] School nurses in Uppsala , Uppsala County will be prescribing exercise to teenage boys. [7] The prescribed exercise can be anything from participating in a sport to walking. [7] Spaces will be available for the participants. [7] Forbes ranking 2007 [ edit ] Source : Forbes.com [1] Ranking Country Percentage Overweight 85 Panama 51.4 86 Tunisia 51.0 87 Saint Vincent and the Grenadines 50.6 88 Brazil 50.5 89 Belize 49.8 90 Sweden 49.7 91 Norway 49.1 92 Russia 49.1 93 El Salvador 48.7 94 Lesotho 48.5 95 Suriname 47.8 References [ edit ] ^ a b "World's Fattest Countries" .
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Dyskeratosis Congenita
Wikipedia
The disease initially mainly affects the skin , but a major consequence is progressive bone marrow failure which occurs in over 80%, causing early mortality. [3] Contents 1 Presentation 1.1 Predisposition to cancer 2 Genetics 2.1 X-linked 2.2 Autosomal dominant 2.3 Autosomal recessive 3 Pathophysiology 4 Diagnosis 5 Management 6 Prognosis 7 Research 8 See also 9 References 10 External links Presentation [ edit ] This section does not cite any sources . ... In humans, telomerase is inactive in most cell types after early development (except in extreme cases such as cancer). [8] Thus, if telomerase is not able to efficiently affect the DNA in the beginning of life, chromosomal instability becomes a grave possibility in individuals much earlier than would be expected. [ citation needed ] A study shows that proliferative defects in DC skin keratinocytes are corrected by expression of the telomerase reverse transcriptase , TERT, or by activation of endogenous telomerase through expression of papillomavirus E6/E7 of the telomerase RNA component , TERC. [12] Diagnosis [ edit ] Since the disease has a wide variety of symptoms due to involvement of multiple systems of the body, diagnostic testing depends on the clinical findings in each individual patient. ... Dyskeratosis Congenita in regards to stem cell transplantation have to be very carefully treated with low intensity radiation/chemo to avoid potentially catastrophic effects of Host versus graft disease and toxicity to other organs effected by short telomeres which makes them very sensitive to any radiation especially the lungs,and liver [ citation needed ] Prognosis [ edit ] DC is associated with shorter life expectancy, but many live to at least age 60. [15] Main cause of mortality in these patients are related to bone marrow failure. Nearly 80% of the patients of dyskeratosis congenita develop bone marrow failure. [ citation needed ] Research [ edit ] Recent research has used induced pluripotent stem cells to study disease mechanisms in humans, and discovered that the reprogramming of somatic cells restores telomere elongation in dyskeratosis congenita (DKC) cells despite the genetic lesions that affect telomerase. ... "Proliferative defects in dyskeratosis congenita skin keratinocytes are corrected by expression of the telomerase reverse transcriptase, TERT, or by activation of endogenous telomerase through expression of papillomavirus E6/E7 or the telomerase RNA component, TERC" . ... "Telomere length is associated with disease severity and declines with age in dyskeratosis congenita" . Haematologica . 97 (3): 353–359. doi : 10.3324/haematol.2011.055269 .DKC1, TINF2, TERC, RTEL1, PARN, WRAP53, CTC1, TERT, USB1, NPM1, NOP10, NHP2, GAR1, NAF1, ACD, STN1, TP53, RMND5B, RTEL1-TNFRSF6B, RPS19, TERF1, SHQ1, RMRP, TPP1, CD34, GRHL2, BRIP1, MLIP, TENT4B, HPSE2, PRDM8, DNAJC21, TRUB1, RNPC3, RNA28SN5, AR, CBX3, PUS7, HBG2, RUNX1, MS4A1, CSF2, CSF3, DDX11, EPO, ETV6, GH1, PPP1R1A, KRT20, ST14, TERF2, TPH1, LOH19CR1, TBPL1, TECR, ATR, SBDS, AK6
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Postural Orthostatic Tachycardia Syndrome
Wikipedia
In one survey of 138 POTS patients, brain fog was defined as “forgetful” (91%), “difficulty thinking” (89%), and “difficulty focusing” (88%). ... Midodrine [17] [87] [88] [89] Splanchnic–mesenteric vasoconstriction Splanchnic vasoconstriction Octreotide [90] [91] Hypovolemic POTS Synthetic mineralocorticoid Forces the body to retain salt. ... Propranolol (Inderal) [94] [95] [96] beta-blockers (Selective) Metoprolol (Toprol), [87] [97] Bisoprolol [98] [92] Selective sinus node blockade Directly reducing tachycardia. ... S2CID 11628648 . ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag Mathias CJ, Low DA, Iodice V, Owens AP, Kirbis M, Grahame R (December 2011). ... Neuroscience and Biobehavioral Reviews . 90 : 174–183. doi : 10.1016/j.neubiorev.2018.04.017 .
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Ollier Disease
Wikipedia
Maffucci syndrome carries a significantly higher risk of malignant transformations like chondrosarcomas but also much more aggressive tumors such as acute lymphocytic leukemia and gastrointestinal and ovarian malignancies. [1] [16] Cause [ edit ] For many years, most research has been inconclusive regarding the cause of the disease. [1] [17] Recent studies have shown that most cases of Ollier disease are believed to have been caused by isocitrate dhydrogenases IDH1 and IDH2 mutations. [18] In one study, 35 of 43 (81%) patients with Ollier disease had either a IDH1 or IDH2 mutation. [19] Another study suggests that R132C IDH1 mutations which are particularly dominant at exon 4 of IDH genes are linked to the growth of vascular lesions. [15] Isocitrate deyhydrogenases IDH1 and IDH2 are catalysts responsible for the conversion of isocitrate to 2-oxoglutarate. ... The Journal of Hand Surgery . 43 (10): 946.e1–946.e5. doi : 10.1016/j.jhsa.2018.02.010 . ... Journal of Shoulder and Elbow Surgery . 17 (2): e9–e11. doi : 10.1016/j.jse.2007.04.006 . ... Orthopaedics & Traumatology: Surgery & Research . 96 (4): 348–353. doi : 10.1016/j.otsr.2010.01.002 .
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Maple Syrup Urine Disease
Omim
Nomenclature Maple syrup urine disease caused by mutation in the E1-alpha subunit gene is referred to as MSUD type IA; that caused by a mutation in the E1-beta subunit gene as type IB; and that caused by defect in the E2 subunit gene as type II. The phenotype caused by mutation in the E3 subunit is sometimes referred to as MSUD type III (Chuang and Shih, 2001), but that disorder is more commonly referred to as E3 or dihydrolipoamide dehydrogenase deficiency (246900) (summary by Hong et al., 1996). ... There are 5 clinical subtypes of MSUD: the 'classic' neonatal severe form, an 'intermediate' form, an 'intermittent' form, a 'thiamine-responsive' form, and an 'E3-deficient with lactic acidosis' form (246900). All of these subtypes can be caused by mutations in any of the 4 genes mentioned above, except for the E3-deficient form, which is caused only by mutation in the E3 gene (Chuang and Shih, 2001). ... Functional expression studies in E. coli showed that the different mutations had variable expression but no residual enzyme activity. Mutations in the E2 Component Gene In a case of classic MSUD, Herring et al. (1991) identified a 124-bp deletion in the DBT gene encoding the E2 component of the BCKDH complex (248610.0001). ... All patients except 2, 1 with E1-alpha and 1 with an E1-beta mutations, had documented episodes of metabolic decompensation. IQ greater than 90 was observed in 70% of patients. Patients with mutations in the E1-alpha gene tended to have decreased IQs compared to other patients.
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Polymicrogyria
Wikipedia
"GPR56 and the developing cerebral cortex: cells, matrix, and neuronal migration" . Mol. Neurobiol . 47 (1): 186–96. doi : 10.1007/s12035-012-8343-0 . ... Few patients are candidates for surgery. [11] The global developmental delay that affects 94% can also be mitigated in some patients with occupational, physical, and speech therapies. ... "Sodium Channel SCN3A (Na V 1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development" . Neuron . 99 (5): 905–913.e7. doi : 10.1016/j.neuron.2018.07.052 . ... Neuron . 99 (5): 905–913.e7. doi : 10.1016/j.neuron.2018.07.052 . ... Acta Neuropathologica Communications . 2 : 80. doi : 10.1186/s40478-014-0080-3 .ADGRG1, MN1, TUBA1A, OCLN, TUBB2B, RTTN, FKTN, COL4A1, PIK3CA, FIG4, PIK3R2, INPP5E, COL18A1, TUBA8, AHI1, LAMC3, MTOR, KIFBP, AKT3, WDR62, PI4KA, PAX6, GPSM2, GMPPB, CRBN, POMT2, PSAT1, SLC45A1, NSDHL, DISC1, RSRC1, CC2D1A, NSUN2, DCPS, RAB3GAP2, B9D1, USP18, WARS2, TUBB3, PIBF1, POMT1, KDM5B, B4GAT1, POLR3A, MAN1B1, RAB18, PHGDH, TNIK, KIAA0556, RPGRIP1L, WASHC4, ATP6V0A2, FRRS1L, LINS1, C2CD3, MKS1, ACTB, POMGNT1, BORCS5, LMAN2L, MED25, TRAPPC9, POMK, POMGNT2, TMEM67, CEP41, TP53RK, METTL23, PEX26, B3GALNT2, CEP120, TMTC3, BMPER, IBA57, ARL13B, HYLS1, CRPPA, KLHL15, ARMC9, EDC3, PGAP1, CCDC88A, ERMARD, FMN2, C12orf4, TBC1D24, ARHGAP31, TMEM237, CPLANE1, MBOAT7, FKRP, TCTN1, SRD5A3, FBXO31, EHMT1, CSPP1, TCTN2, ZC3H14, RXYLT1, KATNB1, ACTG1, PEX10, NDST1, KIF5C, MECP2, NPHP1, PDHA1, PEX1, PEX6, PEX12, RAC1, PEX13, PEX14, PIGC, SF3B4, PTEN, PEX19, PEX2, HSD17B4, HNMT, GRIK2, GNB1, ARL3, ATP1A2, ATP6V1A, ATP6V1E1, CCND2, COL3A1, CPT2, DAG1, DDX3X, DHCR24, DYNC1H1, ATN1, EML1, ERCC1, FH, PEX5, SCN1A-AS1, CLIP1, ZNHIT3, EOMES, SARS1, PEX3, CRADD, PEX11B, LARGE1, AIMP1, SNAP29, LAGE3, RECQL4, PEX16, MED23, TECR, CEP104, KIAA0586, GPHN, TRRAP, PRSS12, TUSC3, WT1, SCN1A, SCN3A, EZR, ST3GAL3, SON, TUFM, SRPX2, AKT1, PIK3CG, PIK3CD, PIK3CB, GRIN1, NEDD4L, PLAUR, MAP1B, LAMA2, TUBA1B, NHEJ1, TUBB4A, TUBB, SEPTIN5, PMP22, ARX, ADAMTS4, CTSB, IGF1, PRICKLE1, POLR3B, HTC2, ITSN1, SHC2, MPL, GFM1, DOCK6, FGD1, TH, FLNA, ENG
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Infections Associated With Diseases
Wikipedia
A review". Mutation Research . 305 (2): 273–81. doi : 10.1016/0027-5107(94)90247-X . ... Experimental and Molecular Pathology . 89 (3): 222–6. doi : 10.1016/j.yexmp.2010.08.001 . ... Emerging Infectious Diseases . 13 (3): 479–81. doi : 10.3201/eid1303.060602 . PMC 2725905 . ... Southern Medical Journal . 98 (7): 686–92. doi : 10.1097/01.SMJ.0000163310.12516.2D . ... Archives of General Psychiatry . 61 (8): 774–80. doi : 10.1001/archpsyc.61.8.774 .
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Autoimmune Polyendocrine Syndrome, Type Ii
Omim
Mapping Eisenbarth et al. (1978) found evidence of an association of HLA-B8 (see HLA-B, 142830) with the polyglandular failure syndrome in 3 generations of a family. The 10 unaffected individuals did not have B8, and only 1 of 7 members with B8 escaped the syndrome. Butler et al. (1984) found no linkage between HLA-B8 and Schmidt syndrome in a 4-generation kindred. ... Hair - Alopecia Eyes - Cataracts - Keratoconjunctivitis - Band keratopathy Immunology - Chronic candidiasis of mucosa, skin and nails - Candidal granuloma - Thymoma - Thymic dysplasia Lab - Association of HLA-B8 - T-lymphocyte deficiency Inheritance - Autosomal recessive vs. autosomal dominant or multifactorial Endocrine - Hypothyroidism - Hyperthyroidism - Insulin- dependent diabetes mellitus - Addison disease - Adrenal failure - Noninsulin-dependent diabetes - Pernicious anemia - Myxedema Neuro - Tetany - Seizures Resp - Laryngitis - Chronic pulmonary disease GI - Pancreatic insufficiency - Steatorrhea - Chronic hepatitis - Cirrhosis - Splenic agenesis Heme - Iron deficiency anemia ▲ Close
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Glycogen Storage Disease Type V
Wikipedia
Its molecular weight of the unprocessed precursor is 97 kDa. The three-dimensional structure has been determined for this protein. ... In this pathway, two ADP molecules combine to make ATP; AMP is deaminated in this process, producing inosine monophosphate (IMP) and ammonia (NH3) . [17] Physicians may also check resting levels of creatine kinase , which are moderately increased in 90% of patients. In some, the level is increased by multitudes - a person without GSD-V will have a CK between 60 and 400IU/L, while a person with the syndrome may have a level of 5,000 IU/L at rest, and may increase to 35,000 IU/L or more with muscle exertion. ... Mommaerts et al. [21] References [ edit ] ^ a b c Nagaraju, Kanneboyina; Lundberg, Ingrid E. (2013-01-01), Firestein, Gary S.; Budd, Ralph C.; Gabriel, Sherine E.; McInnes, Iain B. (eds.), "85 - Inflammatory Diseases of Muscle and Other Myopathies" , Kelley's Textbook of Rheumatology (Ninth Edition) , Philadelphia: W.B. Saunders, pp. 1404–1430.e5, doi : 10.1016/b978-1-4377-1738-9.00085-2 , ISBN 978-1-4377-1738-9 , retrieved 2020-11-03 ^ Rubio JC, Garcia-Consuegra I, Nogales-Gadea G, et al. (2007).
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Gibbus Deformity
Wikipedia
Clinical Microbiology and Infection . 21 (11): 1008.e9–1008.e18. doi : 10.1016/j.cmi.2015.07.013 . ... Journal of Child Neurology . 5 (2): 84–97. doi : 10.1177/088307389000500203 .PLOD1, SLC26A2, PARP1, SLC39A13, LTBP3, FHL1, FGFR3, IDUA, HLA-B, TRIO, SYNE2, KLHL41, TGFB1, SEC23B, EBP, DLL3, CPLX1, TLK2, ERLIN2, RAB3GAP1, RAB18, DKK1, ACTA1, TBX5, MAPK8IP3, EXOC6B, UBA1, BICD2, SYNE1, OBSL1, TBX2, CLCF1, ATP6V0A2, NPAP1, RAB3GAP2, SH2B1, AUTS2, WIPI2, ZBTB20, TBL2, CCDC22, ZMPSTE24, MKRN3-AS1, MFN2, WASHC5, CLIP2, WHCR, NSD2, NELFA, WNT1, MKRN3, ALMS1, NAA10, ARID1A, CUL4B, TPM2, KCNAB2, MBTPS1, CCN6, HERC2, HERC1, BAZ1B, AIP, USP8, AIFM1, CTDP1, CRLF1, PLAA, EIF2AK3, GTF2IRD1, PTDSS1, TPI1, CUL7, SEC24D, FLVCR1, ACP5, NDUFAF4, GPR101, MGME1, WNT3A, HES7, GNPTG, PHF6, CCDC8, LAS1L, FKRP, ASXL3, PUS1, ALG9, SRD5A3, TMEM43, GNPTAB, SLC52A3, CANT1, B3GALT6, TBC1D20, RIPPLY2, VPS37A, PWAR1, MESP2, VPS13B, ARID2, KANSL1, SH3PXD2B, SNORD115-1, KY, FAM111B, PWRN1, SNORD116-1, FA2H, UPF3B, ANKRD11, FGFRL1, SETD5, BCOR, DYM, P4HTM, GTPBP2, MAGEL2, MBTPS2, KLC2, NDUFAF1, SEPSECS, YARS2, PDE11A, NSDHL, VAMP1, ASXL2, UFSP2, KMT2E, ZC4H2, LMOD3, SHROOM4, ARID1B, HACE1, TRPV4, SLC5A7, FKBP10, PIEZO2, PRDM16, P3H1, ROBO3, NXN, SIL1, TAF1, TFAP2A, KLLN, L1CAM, COL1A1, GNAS, GRIA3, GTF2I, HTT, HGD, HSPG2, IDS, ERCC8, SOX11, IPW, KIF22, CHRNG, NOTCH2, LETM1, CFL2, LFNG, LIMK1, LMNA, SCARB2, MECP2, MEIS2, NDN, NEB, NEU1, TONSL, GLI3, GLE1, GLB1, GJB1, CSF1R, CTBP1, CTSK, COL11A2, COL6A3, DCC, DHCR7, TOR1A, COL6A2, ELN, COL6A1, EMD, COL5A2, ERCC6, COL5A1, COL2A1, EXTL3, EZH2, COL1A2, FOXG1, FN1, FUCA1, GABRD, GALNS, GBA, COMP, NONO, NOTCH3, RET, NPR2, BGN, ATP7A, RERE, SDHB, SDHC, SDHD, TRAPPC2, ASAH1, SKI, SMARCA4, ABCC6, BIN1, SMARCB1, ALDH3A2, SMARCC2, SMARCE1, AKT1, AGA, SNRPB, SNRPN, SON, SOX4, ACTB, SOX9, RFC2, RPS6KA3, DPF2, POLD1, ROR2, NUP88, OCRL, TNFRSF11B, P4HB, CBS, RUNX2, PIK3CA, PLOD2, PMM2, PIK3R2, COL12A1, PTEN, PTCH1, PPIB, PRKAR1A, CTSA, PRPS1, MAP2K1, RSS, SMS, LGALS1, DMD, CD6, BMP2, MPEG1, CALR, DHDDS, ALDH2, CAPG, CD38, TRIM21, CRP, PGR, MAPK1, PKD2L1, PTPN11, DYSF, RPS27, UBL4A, SFPQ, SHOX, BEST1, UTRN, TTK, TSC2, CLEC3B, THBS1, MAP3K7, PLAT, PCNA, ASPSCR1, CTPP, CD55, DAO, EPHA2, NCOA5, SEMA6A, EPHB2, CHPT1, BBX, FBN1, APH1A, IGFBP7, LBP, ASF1A, SMAD3, CD46, IL6
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Interstitial Lung Disease
Wikipedia
The British Journal of Radiology . 90 (1071): 20160723. doi : 10.1259/bjr.20160723 . ... American Journal of Respiratory and Critical Care Medicine . 199 (3): e5–e23. doi : 10.1164/rccm.201812-2276ST . ... PMID 30707039 . ^ Dowman L, Hill CJ, Holland AE (October 2014). "Pulmonary rehabilitation for interstitial lung disease". ... Clinics in Chest Medicine . 33 (1): 179–89. doi : 10.1016/j.ccm.2011.12.003 .SFTPC, COPA, FARSB, SOD2, IL18, IL1A, CCL2, MUC5B, SFTPB, HLA-DRB1, ITGA3, STING1, MUC2, NKX2-1, MARS1, TRIM21, ZKSCAN1, WNT3, AP3D1, NSF, SMPD1, SFTPD, AKAP13, MUC1, MAPT, IVD, FAM13A, CTNNA3, ATP11A, LINC02210, LINC02210-CRHR1, TSBP1-AS1, MAPT-AS1, ADAMTS7P4, KRTAP5-4, KANSL1, COPD, RNF168, SPPL2C, LRRC34, DPP9, ERF, DISP2, ACTRT3, STN1, DEPTOR, CSMD1, IFIH1, INPP5E, BTNL2, MYNN, TOLLIP, GBA, ABCA3, LINC02689, SCARB2, DSP, EGFR, CRP, TNF, ALK, PLF, RGS6, CHI3L1, RASA1, SLC27A5, DCPS, CEL, SLURP1, RIEG2, PRTN3, PARP9, RBM45, CCL18, TGFB1, SMUG1, TRIM33, PAH, MORC3, IFNG, MMP7, PADI4, PROS2P, IL17A, SFTPA1, CXCL8, IL2, CD274, IL1B, ADAM17, TERT, CSF2, TNFSF13B, ACR, SFTPA2, CYCS, KRT20, FLI1, PADI3, WNT5A, BLK, CABIN1, ABCA4, TP53, CXCL13, CAV1, FLNA, HARS1, FEV, GPT, TFF1, CRYGD, IL33, MS4A1, CX3CL1, HARS2, ROS1, CXCL10, CDC42EP1, PLEKHM3, HSPA4, ALB, IFNA1, IFNA13, IGF1, BTG3, IL4, IL6, IL10, IRF5, CNTRL, COX8A, AP3B1, LOXL2, TRBV28, TRBV20-1, CXCR6, PSS, MPC1, CD226, ACTB, SCLY, CD40LG, PADI2, SEC14L2, LILRB1, FOXP3, CD53, ERVK-12, IL17RA, PRPF31, ADH5, ERVK-11, CNMD, ERVK-2, BRD4, TRBV3-1, HPGDS, WDHD1, ERVK-22, PSIP1, BICD2, MIR7-1, TLR9, AQP4, HPS4, BCL2, BPIFB1, PIK3IP1, FOXP4, PGA3, C11orf40, IL34, ATF3, AKT1, CD22, SPAAR, FAS, AIRE, MIR7-3, GLIS3, ALOX5AP, ALOX5, MIR7-2, MIR200C, TSLP, BDNF, NT5C1A, SLA2, ADM, BANK1, RNPC3, CD19, CD14, MIR214, NCF1, CXCL16, ACE2, NOD2, CANX, CALR, PINK1, FSD1, KLF5, SLC2A10, MAP1LC3B, PGA4, FSD1L, POSTN, ETS1, YAP1, DNASE1L3, IL1RN, IL15, EGF, ITGAE, ITGAM, SLC26A3, KIT, KRT7, KRT14, LGALS1, LYZ, CYP2B6, NTF3, MATN1, MMP1, MMP9, MPO, MRC1, MSN, MST1, CX3CR1, CTNNB1, MUC5AC, NARS1, IDUA, ICAM2, ICAM1, HSPG2, FCER2, FCGR2B, FCN2, FGF2, FOXF1, FOLR2, FOSL2, ELN, GH1, GLRX, GPR15, GSTM1, HCRT, HDAC2, HGF, HLA-B, HLA-DPB1, EIF2B1, HLA-DRB5, HPS1, HSPA1A, HSPA1B, HSP90AA1, CCN2, PDGFA, TRAIP, EIF2B4, VCAM1, VEGFA, EZR, VTN, VWF, CCR3, FBN1, CXCR4, HMGA2, SEMA7A, FCN3, EIF2B2, PGA5, EIF2S2, LRRFIP1, CD163, PPIG, COX5A, NTN1, ITM2B, CXCL14, CCS, CENPB, PLXNC1, TTF1, TNFRSF1B, TNFRSF1A, COL4A5, PLG, SERPINF2, PSMB2, PTPRC, BRD2, S100A9, SAFB, CSF2RA, CCL3, CCL5, CCL17, CCL21, SELPLG, CPOX, SNRNP70, SPP1, SSTR2, STAT3, STAT4, TAL1, TRB, TGFA, TGFBR1, CHIT1
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Cytochrome P450 Oxidoreductase Deficiency
Wikipedia
., CYP3A4 ), [4] among many other CYP450 enzymes. [3] Symptoms of severe forms of PORD include ambiguous genitalia in males and females, congenital adrenal hyperplasia , cortisol deficiency , and Antley–Bixler skeletal malformation syndrome (ABS), while symptoms of mild forms include polycystic ovary syndrome in women and hypogonadism in men. [3] Maternal virilization also occurs in severe forms, due to aromatase deficiency [5] in the placenta . [3] Virilization of female infants in PORD may also be caused by alternative biosynthesis of 5α-dihydrotestosterone via the so-called " androgen backdoor pathway ". [6] The ABS component of severe forms of PORD is probably caused by CYP26B1 deficiency , which results in retinoic acid excess and defects during skeletal embryogenesis . [3] All forms of PORD in humans are likely partial, as POR knockout in mice results in death during prenatal development . [3] See also [ edit ] Androgen backdoor pathway Cytochrome P450 reductase References [ edit ] ^ Flück, Christa E.; Pandey, Amit V. (2019-01-01), "Human P450 Oxidoreductase Deficiency" , in Huhtaniemi, Ilpo; Martini, Luciano (eds.), Encyclopedia of Endocrine Diseases (Second Edition) , Academic Press, pp. 431–443, doi : 10.1016/b978-0-12-801238-3.64966-8 , ISBN 978-0-12-812200-6 , retrieved 2020-02-18 ^ Pandey, Amit V.; Flück, Christa E. ... PMID 32060549 . ^ Reisch N, Taylor AE, Nogueira EF, Asby DJ, Dhir V, Berry A, Krone N, Auchus RJ, Shackleton CH, Hanley NA, Arlt W (October 2019). ... PMID 31611378 . v t e Gonadal disorder Ovarian Polycystic ovary syndrome Premature ovarian failure Estrogen insensitivity syndrome Hyperthecosis Testicular Enzymatic 5α-reductase deficiency 17β-hydroxysteroid dehydrogenase deficiency aromatase excess syndrome Androgen receptor Androgen insensitivity syndrome Familial male-limited precocious puberty Partial androgen insensitivity syndrome Other Sertoli cell-only syndrome General Hypogonadism Delayed puberty Hypergonadism Precocious puberty Hypoandrogenism Hypoestrogenism Hyperandrogenism Hyperestrogenism Postorgasmic illness syndrome Cytochrome P450 oxidoreductase deficiency Cytochrome b5 deficiency Androgen-dependent condition Aromatase deficiency Complete androgen insensitivity syndrome Mild androgen insensitivity syndrome Hypergonadotropic hypogonadism Hypogonadotropic hypogonadism Fertile eunuch syndrome Estrogen-dependent condition Premature thelarche Gonadotropin insensitivity Hypergonadotropic hypergonadism v t e Inborn errors of steroid metabolism Mevalonate pathway HMG-CoA lyase deficiency Hyper-IgD syndrome Mevalonate kinase deficiency To cholesterol 7-Dehydrocholesterol path: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia CHILD syndrome Conradi-Hünermann syndrome Lathosterolosis Smith–Lemli–Opitz syndrome desmosterol path: Desmosterolosis Steroids Corticosteroid (including CAH ) aldosterone : Glucocorticoid remediable aldosteronism cortisol / cortisone : CAH 17α-hydroxylase CAH 11β-hydroxylase both: CAH 3β-dehydrogenase CAH 21-hydroxylase Apparent mineralocorticoid excess syndrome/11β-dehydrogenase Sex steroid To androgens 17α-Hydroxylase deficiency 17,20-Lyase deficiency Cytochrome b 5 deficiency 3β-Hydroxysteroid dehydrogenase deficiency 17β-Hydroxysteroid dehydrogenase deficiency 5α-Reductase deficiency Pseudovaginal perineoscrotal hypospadias To estrogens Aromatase deficiency Aromatase excess syndrome Other X-linked ichthyosis Antley–Bixler syndrome This article about a disease , disorder, or medical condition is a stub .
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Down Syndrome
Wikipedia
They are typically used in combination to increase the detection rate. [20] None can be definitive, thus if screening is positive, either amniocentesis or chorionic villus sampling is required to confirm the diagnosis. [80] Screening in both the first and second trimesters is better than just screening in the first trimester. [80] The different screening techniques in use are able to pick up 90–95% of cases, with a false-positive rate of 2–5%. [81] If Down syndrome occurs in one in 500 pregnancies and the test used has a 5% false-positive rate, this means, of 26 women who test positive on screening, only one will have Down syndrome confirmed. [81] If the screening test has a 2% false-positive rate, this means one of eleven who test positive on screening have a fetus with Down syndrome. [81] First- and second-trimester screening [80] Screen Week of pregnancy when performed Detection rate False positive Description Combined test 10–13.5 wks 82–87% 5% Uses ultrasound to measure nuchal translucency in addition to blood tests for free or total beta-hCG and PAPP-A Quad screen 15–20 wks 81% 5% Measures the maternal serum alpha-fetoprotein, unconjugated estriol, hCG, and inhibin -A Integrated test 15–20 wks 94–96% 5% Is a combination of the quad screen, PAPP-A, and NT Cell-free fetal DNA From 10 wks [86] 96–100% [87] 0.3% [88] A blood sample is taken from the mother by venipuncture and is sent for DNA analysis. ... Findings that indicate increased risk when seen at 14 to 24 weeks of gestation include a small or no nasal bone, large ventricles , nuchal fold thickness , and an abnormal right subclavian artery , among others. [89] The presence or absence of many markers is more accurate. [89] Increased fetal nuchal translucency (NT) indicates an increased risk of Down syndrome picking up 75–80% of cases and being falsely positive in 6%. [90] Ultrasound of fetus with Down syndrome showing a large bladder Enlarged NT and absent nasal bone in a fetus at 11 weeks with Down syndrome Blood tests Several blood markers can be measured to predict the risk of Down syndrome during the first or second trimester. [81] [91] Testing in both trimesters is sometimes recommended and test results are often combined with ultrasound results. [81] In the second trimester, often two or three tests are used in combination with two or three of: α-fetoprotein , unconjugated estriol, total hCG, and free βhCG detecting about 60–70% of cases. [91] Testing of the mother's blood for fetal DNA is being studied and appears promising in the first trimester. [87] [92] The International Society for Prenatal Diagnosis considers it a reasonable screening option for those women whose pregnancies are at a high risk for trisomy 21. [93] Accuracy has been reported at 98.6% in the first trimester of pregnancy. [20] Confirmatory testing by invasive techniques (amniocentesis, CVS) is still required to confirm the screening result. [93] Management Efforts such as early childhood intervention , screening for common problems, medical treatment where indicated, a good family environment, and work-related training can improve the development of children with Down syndrome. ... "Down's syndrome". Lancet (Review). 361 (9365): 1281–89. doi : 10.1016/S0140-6736(03)12987-X . ... Retrieved 20 March 2012 . ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad Malt, EA; Dahl, RC; Haugsand, TM; Ulvestad, IH; Emilsen, NM; Hansen, B; Cardenas, YE; Skøld, RO; Thorsen, AT; Davidsen, EM (Feb 5, 2013). ... PMID 25530442 . ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai Hickey, F; Hickey, E; Summar, KL (2012).S100B, SLC19A1, MTHFR, GATA1, RCAN1, SOD1, MIR155, DCR, MIR802, PRDX2, MIR125B2, MIR99A, VIP, PRDX6, CXCL8, CALCA, MIRLET7C, NTF3, GSTM2, DYRK1A, RPLP0, CBS, ETS2, ERG, JAK2, DSCAM, MAPT, CRLF2, MTR, MTRR, RUNX1, TP53, PAPPA, ACTB, APP, CBSL, APOE, AFP, SIM2, RFC1, PSEN1, COL6A1, TTC3, HTC2, CGB3, TNF, S100A1, CGA, POTEF, BACE1, BDNF, SOAT1, KCNJ6, CCL4L1, CCL4, CCL4L2, PLAC4, CGB5, CGB8, COL6A2, IL1B, IL6, CRELD1, DNMT3B, MECP2, SOD2, OLIG2, BACE2, ETV6, PGF, CASP3, RET, HLCS, GET1, EDNRB, PCNT, HMGN1, NEFL, IFNA1, SERPINA1, IFNG, IL1A, DOP1B, SYNJ1, IFNA13, MCIDAS, CAT, AIRE, ABL1, XPNPEP1, SH3BGR, CD6, SQSTM1, CHDH, ITSN1, ENO2, PRNP, SLC25A1, ADAM12, BHMT, IL10, CD19, POLB, CD34, MIR1246, DICER1, ITGB2, EZH2, FABP7, PTCH1, VEGFA, PIGP, GFAP, DNMT3L, CBR1, GART, GAPDH, RAB5A, ALB, HLA-A, PABPC4, TNFRSF10C, CHAF1B, AKT1, SUCLA2, CCL2, SET, FANCB, JAK3, REST, PCP4, BACH1, BCL2, CSF2, MTHFD1, BCHE, LEP, NOS3, CDKN2A, COL18A1, UBB, LAMC2, SNX27, HT, KIT, NFATC1, NGF, USP25, OXA1L, RENBP, NFIC, ABCG1, USP16, PRDX1, NFIB, CCND1, PTGS2, HMOX1, HMGB1, MX1, CALB2, NOP53, NCAM2, NFIA, MMP9, TRIB1, IKZF1, DSCR4, MPL, PIK3CD, KMT2A, APOA1, OPN1SW, BCR, ABCB1, ITGAM, ITGA2B, TARDBP, PKNOX1, INHA, ADIPOQ, RASSF1, PML, PFKL, IL10RB, IL2RA, IL2, IL1RN, IMMT, IGFBP7, STIP1, PRDX3, IFNAR2, RELN, TP73, IFIT3, CFAP410, NAE1, BCAR1, GRIK1, NFIX, GJB2, DHFR, U2AF1, CTNNB1, CTNND1, SYP, DBN1, DCK, DLX4, XRCC1, CD63, DPYSL2, SORL1, CD59, TMX2-CTNND1, MYL7, CSTB, TCN2, CSF3, CSE1L, TYMS, H3P7, TWIST1, ERVH48-1, TTN, P2RY8, COMT, TSHR, TGFB1, TGM2, ESCO1, TNFRSF1A, TPO, SLC12A5, CDA, FLT3, RHD, FAM3B, GATA4, FN1, TREM2, MTOR, PICALM, ARHGEF5, TRRAP, MATR3, USP9X, TXN, VAMP8, PSG10P, POU5F1P4, TNFSF10, TP63, TYRP1, GATD3A, APOBEC3B, MIR590, CCR2, GDF15, TTR, MIR3197, AKR7A2, RCAN2, LOH19CR1, DENR, H3P9, TPTE, HSP90B1, TRH, TRPM2, TSC2, MIR486-1, FXR2, ACTR2, PDXK, DNM1L, POU5F1P3, MAGI2, TMEM72, ZEB2, SCRN1, PHYHIP, ADAMTS1, YWHAG, DSCAM-AS1, GATD3B, EIF2B4, ZMYM2, IL1RL1, EIF2B2, RNF103-CHMP3, AVSD1, LPAR2, UBA3, FAS-AS1, MAP3K14, WT1, XIST, ZFY, HAP1, BCL10, EIF2S2, MTRNR2L12, COX5A, RECQL4, ZNF587B, NTN1, EIF2AK3, MIR3196, NRIP1, ABCG2, UBE3A, USP5, SOD2-OT1, UTRN, UVRAG, USP7, LINC02605, VIPR1, BEST1, MIR1973, MCM3AP, PAX8, VPREB1, TET3, SDS, DCAF7, ACKR3, ENOSF1, KIF21A, SEPTIN11, PARD3, NPDC1, SLC12A9, PLSCR4, STRBP, ACTR3B, AICDA, LRRC47, NUFIP2, MRTFA, RNF213, MIA3, RTL1, DCTN4, RBM11, NT5C3A, PRRX2, TDP2, CHMP3, RIPPLY3, BRWD1, SETD4, PACC1, RIPK4, C21orf91, RBFOX1, TET2, PGPEP1, STX17, LSM2, PRM3, HPSE2, TAF8, AP5B1, UBXN11, SLC13A5, MYL12B, PRRT2, DSCR9, AHSA2P, PRDM16, VENTXP1, LYPD4, STRC, TMPRSS6, ARX, HEPACAM, BAGE2, TMEM241, GLIS2, COL25A1, FGFBP2, ARHGAP24, MED25, LPAL2, TET1, DERL1, TAS2R62P, NANOS3, WNK1, GORASP1, CPEB1, NOD2, SAMSN1, HSPA14, COPS4, EFS, CKAP4, NES, ARPP19, PPARGC1A, PSG8, SUB1, PRSS21, DHFR2, CXCR6, STMN2, MMRN1, MCF2L, ICOSLG, SYNM, ANGPTL2, CHL1, KHDRBS1, APH1A, SLC9A6, TUBB3, RACK1, PEMT, OLFM1, MCRS1, MAD2L2, PLF, MYL12A, CIB1, DPYSL4, MRPL28, GNLY, AHSA1, SPAG5, HEY2, TMEM131, MORC3, REM1, CRCP, APEX2, HPGDS, MIR145, SGSM3, IGHV1-12, NXT1, FAM215A, LGALS13, CNOT7, GMPPA, ZBTB21, IL22, GMNN, GPR162, B3GAT1, CKAP2, PLA2G2D, APPL1, MIR146A, CHD5, MIR17, MTHFD1L, MIR183, MIR191, POC1A, MIR199B, MIR30C1, NUP62, MIR30C2, DAPK2, A1BG, PTH, TNNT2, EDNRA, EEF1A2, EGFR, EGR2, EGR3, EIF2B1, ELANE, ELK1, ENG, ENSA, EPAS1, ERBB2, ERCC2, ERCC3, ERF, ESR1, EEF1A1, E2F1, HP, DSG1, NKX2-5, CYP2B6, CYP17A1, CYP19A1, DBH, DBP, DGCR, DMD, DNAH8, DNASE1, DNMT1, DNMT3A, DPYSL3, DRD4, ATN1, ESR2, FABP3, FABP5, FBN2, GPT, GPX1, GPX3, GSN, GTF2H1, GYPA, GYPB, GYPE, HSD17B10, HAS2, CFH, HINT1, HLA-B, HLA-DQA1, HNMT, GPR42, GPI, GJA1, FLT1, FCGR3A, FCGR3B, FEB1, FGFR1, FGFR3, FLNA, FMR1, GHR, FYN, GABPA, GAD1, GAP43, GDI2, GH1, CST3, CRP, CRMP1, BTG1, ARNT, ARSA, STS, ARSD, ASPA, SERPINC1, AZGP1, BAX, BCL2L1, BCL6, BDKRB1, BGN, BLVRA, BMI1, BRS3, AQP4, APOC2, APOA2, ADRA1A, SERPINA3, ACO1, ACVR1, ADAR, PARP1, PARP4, ADRA2B, APEX1, ADRB2, AGA, AGTR1, AHSG, AMPH, ANK1, BST2, C9, CREB1, CA2, CHRNA7, CHRNB2, CLU, CCR5, CNR1, COL4A3, COL6A3, COL7A1, COX8A, CP, CPE, CPOX, CPS1, CPT1B, CR2, CHRNA4, CHRNA3, CHAT, CDK1, CAMP, CASP1, RUNX1T1, CD247, CD14, CD38, CDK6, CENPB, CDKN1A, CDKN1B, CDKN1C, CDKN2B, CEBPE, CECR, HNRNPA2B1, PRMT2, TLR4, PSMA5, PTPN4, PTPN11, PTPRF, PWP2, RAB4A, RARA, RBM4, RBP4, RCN1, RELA, BRD2, RPE65, RPL17, RPS19, RYR2, A2M, PSG5, HSPA4, PSEN2, PDYN, PGD, PIP4K2A, PLG, PLEK, PLTP, PRRX1, POLD1, PON1, POU5F1, PPP2CA, MAPK10, PRL, TMPRSS15, PSD, SETMAR, SFPQ, SRSF6, SH3BGRL, CDKL5, SYT1, TBX1, TCP1, TRBV20OR9-2, TEAD4, TERC, TFAM, TFCP2, TFF1, TG, THBS1, TIAM1, TIMP3, TLR2, HSPA13, STATH, STAT3, SLC6A4, SHBG, SHMT1, SHMT2, SHOX, SIM1, SLC5A3, SNAP25, STAT1, SNCA, FSCN1, SNRNP70, SOX11, SRY, SSTR4, PDGFB, PDE9A, PDE4C, MDM4, KCNE1, KCNJ15, KISS1, KNG1, KRT8, STMN1, LBP, LBR, LHCGR, LRP2, LTA4H, MAOA, MARK1, MBP, CD46, KCNA3, ITGAL, ISL1, IL7, HSPD1, ICAM1, IDE, IFNAR1, IGH, IL4, IL15, ISG20, IL16, IL17A, IDO1, INPP5D, INSL4, IRF1, MDM2, MME, PDE4B, MOS, NFKB1, NHS, NME1, NME2, NOS2, NPM1, NT5E, NTRK1, NR4A2, OCA2, PAH, PAK1, PAK3, PAX5, PCYT1A, NFE2L2, NFATC2, NEFH, RNR2, MPO, MRC1, MT2A, ATP6, ND3, MTNR1B, MYD88, NDUFV3, MYO9B, NACA, NAIP, NCAM1, NDUFA2, NDUFS3, H3P10
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Eosinophilic Folliculitis
Wikipedia
Eosinophilic folliculitis Other names Eosinophilic pustular folliculitis, Sterile eosinophilic pustulosis" [1] Specialty Dermatology Eosinophilic folliculitis is an itchy rash with an unknown cause that is most common among individuals with HIV , though it can occur in HIV-negative individuals where it is known by the eponym Ofuji disease . [2] EF consists of itchy red bumps ( papules ) centered on hair follicles and typically found on the upper body, sparing the abdomen and legs. ... Treatment [ edit ] Treatment of eosinophilic folliculitis in people with HIV typically begins with the initiation of Highly Active Anti-Retroviral Therapy in order to help reconstitute the immune system. Direct treatment of the EF itself focuses on decreasing the inflammation and itching. ... Other therapies include PUVA , topical tacrolimus , and isotretinoin . [7] Epidemiology [ edit ] Eosinophilic folliculitis associated with HIV infection typically affects individuals with advanced HIV and low T helper cell counts. [8] It affects both men and women as well as children with HIV and is found throughout the world. EF may also affect individuals with hematologic disease such as leukemia and lymphoma . [9] It may also affect otherwise normal infants in a self-limited form. [10] HIV-negative individuals can also develop EF — this is more common in Japan. [11] See also [ edit ] Eosinophilic pustular folliculitis of infancy List of cutaneous conditions References [ edit ] ^ James, William; Berger, Timothy; Elston, Dirk (2005). ... Archives of Dermatology . 131 (9): 1089–91. doi : 10.1001/archderm.131.9.1089 . ... American Journal of Clinical Dermatology . 5 (3): 189–97. doi : 10.2165/00128071-200405030-00007 .
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Chronic Prostatitis/chronic Pelvic Pain Syndrome
Wikipedia
Kennedy – President of the United States of America [84] Tim Parks – British novelist, translator and author. [85] [86] Howard Stern – radio personality [87] [88] William Styron – author ( Sophie's Choice ) [89] References [ edit ] ^ a b c Franco, JVA (14 May 2018). ... Ann. N. Y. Acad. Sci . 1088 (1): 78–99. Bibcode : 2006NYASA1088...78T . doi : 10.1196/annals.1366.025 . ... Expert Opin Pharmacother . 9 (17): 2979–94. CiteSeerX 10.1.1.470.7817 . doi : 10.1517/14656560802519845 . PMID 19006474 . S2CID 73881007 . ^ Murphy, AB.; Macejko, A.; Taylor, A.; Nadler, RB. (2009). ... Urology . 55 (3): 403–7. doi : 10.1016/S0090-4295(99)00536-1 . PMID 10699621 . ^ Leslie A Aaron; et al. (2001).
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Endocardial Fibroelastosis
Wikipedia
EFE has two distinct genetic forms, each having a different mode of inheritance . ... Many of the cases of infantile cardiac failure were accordingly called "primary cardiomyopathy" as well as "primary EFE", while those with identifiable congenital anomalies stressing the heart were called "secondary EFE". ... After each epidemic there were increased numbers of cases with EFE coming to autopsy. On closer study there were cases of pure acute myocarditis, cases of mixed myocarditis and EFE, and cases where myocarditis had healed, leaving just EFE. ... It seems undeniable that transplacental mumps infection had been in the past the major cause of EFE, and that immunization was indeed the cause of EFE having become rare. [ citation needed ] Non-infectious causes of EFE have also been studied, spurred by the opening of new avenues of genetics research. ... EFE can now be found non-invasively by the recording of increased endocardial echos.