- Delta-Beta Thalassemia Wikipedia
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Tetrahydrobiopterin Deficiency
Wikipedia
PMID 708106 . ^ Matthew Herper (2016-07-28). "How Focusing On Obscure Diseases Made BioMarin A $15 Billion Company" .
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Stomach Cancer
Wikipedia
Estrogen may protect women against the development of this form of cancer. [24] [25] Infections [ edit ] Helicobacter pylori infection is an essential risk factor in 65–80% of gastric cancers, but only 2% of people with Helicobacter infections develop stomach cancer. [4] [26] The mechanism by which H. pylori induces stomach cancer potentially involves chronic inflammation, or the action of H. pylori virulence factors such as CagA . [27] It was estimated that Epstein–Barr virus is responsible for 84,000 cases per year. [28] AIDS is also associated with elevated risk. [4] Smoking [ edit ] Smoking increases the risk of developing gastric cancer significantly, from 40% increased risk for current smokers to 82% increase for heavy smokers. ... Some other techniques to prolong life or improve symptoms are used, including laser treatment, surgery, and/or stents to keep the digestive tract open, and chemotherapy by drugs such as 5-fluorouracil, cisplatin , epirubicin , etoposide , docetaxel , oxaliplatin , capecitabine or irinotecan . [14] Stomach cancer metastasized to the lungs The TNM staging system is also used. [63] In a study of open-access endoscopy in Scotland , patients were diagnosed 7% in Stage I 17% in Stage II, and 28% in Stage III. [64] A Minnesota population was diagnosed 10% in Stage I, 13% in Stage II, and 18% in Stage III. [65] However, in a high-risk population in the Valdivia Province of southern Chile , only 5% of patients were diagnosed in the first two stages and 10% in stage III. [66] Prevention [ edit ] Getting rid of H. pylori in those who are infected decreases the risk of stomach cancer, at least in those who are Asian. [67] A 2014 meta-analysis of observational studies found that a diet high in fruits , mushrooms , garlic , soybeans , and green onions was associated with a lower risk of stomach cancer in the Korean population. [68] Low doses of vitamins , especially from a healthy diet , decrease the risk of stomach cancer. [69] A previous review of antioxidant supplementation did not find supporting evidence and possibly worse outcomes. [70] [71] Management [ edit ] Cancer of the stomach is difficult to cure unless it is found at an early stage (before it has begun to spread). ... Hence, this heterogeneous expression should be taken into account for HER2 testing, particularly in small samples such as biopsies, requiring the evaluation of more than one bioptic sample. [80] Radiation [ edit ] Radiation therapy (also called radiotherapy) may be used to treat stomach cancer, often as an adjuvant to chemotherapy and/or surgery. [6] Lymphoma [ edit ] Lymphoma of the MALT type can often be fully treated by treating an underlying H. pylori infection. [15] This results in remission in about 80% of cases. [15] Prognosis [ edit ] The prognosis of stomach cancer is generally poor, due to the fact the tumour has often metastasised by the time of discovery and the fact that most people with the condition are elderly (median age is between 70 and 75 years) at presentation. [81] The average life expectancy after being diagnosed is around 24 months, and the five-year survival rate for stomach cancer is less than 10 percent. [6] Almost 300 genes are related to outcomes in stomach cancer with both unfavorable genes where high expression related to poor survival and favorable genes where high expression associated with longer survival times. [82] [83] Examples of poor prognosis genes include ITGAV , DUSP1 and P2RX7 . [84] Epidemiology [ edit ] Stomach cancer deaths per million persons in 2012 0–11 12–16 17–24 25–33 34–51 52–76 77–102 103–128 129–175 176–400 Worldwide, stomach cancer is the fifth most-common cancer with 952,000 cases diagnosed in 2012. [16] It is more common both in men and in developing countries. [85] [86] In 2012, it represented 8.5% of cancer cases in men, making it the fourth most-common cancer in men. [87] Also in 2012, the number of deaths was 700,000 having decreased slightly from 774,000 in 1990, making it the third-leading cause of cancer-related death (after lung cancer and liver cancer ). [88] [89] Less than 5% of stomach cancers occur in people under 40 years of age with 81.1% of that 5% in the age-group of 30 to 39 and 18.9% in the age-group of 20 to 29. [90] In 2014, stomach cancer resulted in 0.61% of deaths (13,303 cases) in the U.S. [91] In China, stomach cancer accounted for 3.56% of all deaths (324,439 cases). [92] The highest rate of stomach cancer was in Mongolia , at 28 cases per 100,000 people. [93] In the United Kingdom, stomach cancer is the fifteenth most-common cancer (around 7,100 people were diagnosed with stomach cancer in 2011), and it is the tenth most-common cause of cancer-related deaths (around 4,800 people died in 2012). [94] Incidence and mortality rates of gastric cancer vary greatly in Africa. ... Archived from the original on 7 October 2014 . Retrieved 28 October 2014 . ^ a b c d Asombang AW, Rahman R, Ibdah JA (April 2014).ERBB2, APC, PIK3CA, FGFR2, MUTYH, KLF6, CDH1, CASP10, IRF1, MET, CDKN1A, ATM, TP53, KRAS, CDKN2A, ERBB3, AXIN2, DLC1, CDK4, BAP1, PTGS2, STAT3, RUNX3, IL1B, MTHFR, EGFR, BIRC5, IL1RN, TYMS, TNF, ZNRD1, GKN1, CCND1, GAST, FHIT, MUC1, TYMP, IL6, PRNP, MAPK1, MMP7, BRAF, CD44, PSCA, ACE, DPYD, XRCC1, UMPS, TWIST1, HMOX1, IGFBP3, JUN, MAPK3, PPARG, MYC, CHFR, SERPINE1, HOTAIR, REG4, RHOA, MIA, MMP10, PLAU, SOD2, CLDN3, ERCC2, HRAS, DCBLD2, LRRC3B, PTPRG, PYCARD, SMAD4, CDH2, CKB, FAT4, CDKN1B, KLK10, TIMP3, CAV1, WWOX, HBEGF, KISS1, PHB, DNMT3B, GSTP1, RPL15, DNMT1, BIRC2, XAF1, KRT20, ARL6IP5, LGALS3, AHR, NPM1, ING1, SPRR2A, TNFRSF9, SNAI1, ALDH1A3, SLC1A2, ALB, SNRPB, IL6R, CXCL8, ALDOB, IGFBP7, HTR1A, SREBF2, ALOX5, TAF15, APEX1, FYN, SPZ1, ZNF177, XRCC3, TUBA1C, GLI3, BDNF, ANXA5, MIR22HG, ZNF160, TPM3, MBD3L2, THBD, HNRNPL, HOXA2, TGFA, TFAP2C, HSPA8, HSPB1, HSPD1, ITGA5, ICAM2, TBX3, ID4, IDH3B, RXRB, EXOSC5, RPS26, PLIN2, PTPA, PPP2R1A, PPIC, PPIA, ADRB1, POLE, MSX1, MT2A, PRR5-ARHGAP8, PLAGL1, ZNF667-AS1, MUC6, MX1, RPS21, CCAT1, NDUFA2, NDUFS1, NDUFV1, SERPINA1, PGAM1, NOS3, NOTCH2, PDHA1, NT5E, PAX6, PA2G4, ADRB2, PREP, KMT2A, MLF1, RPS19, RPS15, RPS6, RPL18, AGTR2, KRT8, SYMPK, RORA, RGS2, RBP4, FADS1, RBP1, RARRES1, RARB, RAD23A, M6PR, PTPRF, ACTC1, MARK1, MAPK8, ATP6V0D2, AFP, PRKCB, PRKAB1, PRKAA1, RPL13, TNFSF9, ARID1A, ALDH7A1, EPHX3, CDKN2D, MRPS18B, CTSC, PRPF19, FILIP1, CLCN3, CLN3, SNX5, ACAD8, GREM1, PUS1, ZBTB20, SERBP1, CST1, PRDX5, CTNNA2, CTSL, BOP1, APOA1, FAM168A, CHEK2, WIF1, ULBP2, DDB1, GADD45A, DES, FSD1, MRPL13, DPAGT1, ABT1, RANBP10, BCL2L1, BID, BLVRB, BMP2, BMP7, BNIP3, NAXD, KMT2C, RNF43, CA1, CA2, PTOV1, CASP8, HRH4, POLR3K, MRPS11, NBAS, HIKESHI, UBR5, GMPR2, PLCE1, ZNF593, UBXN1, COPS7A, CPSF1, ATR, CCT7, CYP2A6, URM1, SELENBP1, SCRN1, MTSS1, TMEM63A, ENO1, WDR46, IL32, NOP56, ERCC1, AURKB, RRP9, SLC16A3, F2R, FCGBP, TRAP1, SUCLG1, SERPINB2, FBP1, IRS2, ZNF559, FGG, KISS1R, AKR1C3, PLPP1, FKBP2, CST7, ITGA8, AREG, ARFGAP2, EEF1A2, EEF1A1, EBI3, CNPY2, ECM1, MSLN, ECHS1, FST, TFF1, REG1A, IL6ST, ANXA1, TXNIP, MLH1, CTNNB1, TERT, AKT1, PDGFRA, MSH2, FLCN, KIT, DCC, SRC, VEGFA, HIF1A, MSH6, TERF2IP, FGFR3, BUB1B, ACD, BUB1, MC1R, POT1, SDHB, MITF, MGMT, CDKN2B, SDHC, EP300, SDHA, NRAS, PTEN, NFKB1, CDX2, MMP9, VEGFC, GSTM1, GSTT1, CASP3, ABCB1, PGC, SPP1, NOS2, MMP2, PTP4A3, HPSE, CLDN4, SOX2, TGFB1, SERPINB5, PLAUR, POSTN, WNT2, TFF2, MIR21, PPP1R1B, CXCR4, RELA, AURKA, SHH, SSTR3, H3P10, IL1A, CYP2E1, MUC4, CCKBR, FASLG, FLT1, MUC5AC, GLI1, E2F1, MUC2, ANGPT2, MAD2L1, ZFHX3, NR4A1, OGG1, CXCL12, SELE, CD34, FOLR1, ASCL2, ADAMTS1, FAS, CEACAM5, SEM1, TIMP2, TP53INP1, KRT19, TNFRSF6B, LEP, CFLAR, LEPR, IL18, SP1, CD9, TEK, HGF, HDAC1, TGFBR1, CASP6, BRCA1, PDIA3, GHRL, CIAPIN1, HLTF, WNT5A, WNT8B, BCL2, BAX, IGF1R, IL10, PRDM2, EZH2, HLA-DQB1, SMAD3, EPHB2, CYP2C19, MMP14, MMP1, POU5F1, MIR222, RASSF1, MDM2, MIR196B, PLA2G2A, ADIPOQ, MBL2, MIR27A, NGFR, KLF4, MAGEA1, PTCH1, KLRK1, IQGAP2, ARID3B, UGT1A9, DACT1, CCND2, DACH1, MZB1, CLDN18, TRAK1, RUNX1, CCNG2, DNMT3A, MPHOSPH8, ADIPOR1, HTATIP2, CA9, CCNA2, DEFB4A, UGT1A10, CXCR6, DDR1, DAPK1, CASP2, KIF2C, MAGED2, LILRB1, CBFB, FXYD5, DCN, ZFR, RAB23, DDIT3, CASP7, IGF2BP3, CD80, CD247, CACYBP, DAPK2, NOX1, TMEFF2, CCR7, FOXD3, CADM1, COL1A2, GNL3, CCN2, PRKD2, TINF2, MAPK14, CSNK1D, KLK13, SETBP1, SOSTDC1, CSNK1E, B3GAT1, DKK3, SULF1, CMA1, NELFB, IGK, KLK12, RHOBTB2, CXADR, CLCF1, CD40LG, CD81, CDC20, NNT, CDC25C, COMMD5, LPAR3, TRAC, CHEK1, DHDH, FOXN3, FOXP1, CTNNBIP1, TRPM7, PGPEP1, MIR146A, MIR145, NCR3LG1, ANKRD33, TRIM59, MRGPRX1, AGT, GPRC6A, AGTR1, DNAJB1P1, ABHD11-AS1, DDX53, OXER1, IGSF11, GATA5, CLDN23, GPR151, ALDH3A1, ANGPT1, B4GALNT2, MRGPRX4, MRGPRX3, CAVIN3, MIR15A, MIR16-1, MIR196A2, PGA3, PERCC1, ZFPM2-AS1, NNT-AS1, ADAM10, MIR1226, ADH7, ADRA1A, MIR589, MIR567, LGALS7B, MIR487A, MIR200B, ADRA2B, MIR337, MIR135B, GPR166P, VN1R17P, MIR301A, MIR25, MIR223, AP2A1, MIR200C, PGAP3, ANXA2, TSPYL5, BGN, LGR6, HIVEP3, BDKRB1, PCDH10, AICDA, ACKR3, ADAMTS9, BDKRB2, KCMF1, RPRM, CNDP2, SOX17, CEACAM1, LIMS2, URGCP, LAPTM4B, FBXW7, IMP3, CDCA8, PINX1, IMPAD1, BRS3, BACH2, BAK1, ANXA4, ABHD11, TNS4, ZNF382, SPPL2A, ANXA7, APAF1, APOE, MIEN1, AR, RHOC, DYNLRB1, RND3, BAD, COL18A1, ARHGDIB, TET1, MYCT1, ASPH, VASH2, NEIL1, ADIPOR2, ATOH1, FA2H, DUSP1, OPCML, E2F4, SAT1, SDHD, INPPL1, INSIG1, PDX1, SDC1, CXCL5, CCL22, CCL17, CCL5, CCL2, S100A11, SFRP1, S100A8, S100A6, IRAK1, RPS27, ITGB1, ITPR3, KCNA5, KCNH1, RPS13, KCNH2, SELL, SIAH1, TDGF1, SSAV1, ID1, TAZ, TACC1, TAC1, STK11, ID3, HSPA13, CFI, SSTR4, IFNGR2, SRF, IL12B, CCN1, RBPJ, SPINK1, IL2, IL11, IL12A, SMO, SLPI, SLC5A5, SLC4A2, KDR, KRT18, RPL6, PITX1, MMP11, MOS, MPO, MRE11, POU2F1, ABCC1, PLK1, PLCG2, RNR1, PKD1, PIK3CG, RPSA, CEACAM6, NEDD4, NM, NME1, NNMT, PFKFB4, PFKFB3, PFKFB2, PFKFB1, NPR1, MKI67, MIF, PRKCA, MGAT5, RNASE1, UPF1, LGALS3BP, LGALS7, LOX, RB1, LOXL2, LTA, EPCAM, PTPRZ1, PTPRA, PTK2, PTGS1, MAGEA3, PSMD10, MAL, HTRA1, KLK6, MCL1, MCM7, PRKDC, TCF7L2, TERF1, PRMT5, PROM1, PTTG1, EREG, LPAR2, PDCD5, ESR1, MTA1, SOCS3, F3, BTRC, F8, FAP, PIWIL1, FADD, ADAM23, FBLN1, HRK, BECN1, FGF7, FHL1, VEGFD, TNFSF11, IFITM1, EPHB6, RPL23, TERF2, PDCD6, YAP1, ST3GAL6, EDNRA, EFNA1, EFNB1, TNK2, EFNB2, EGF, LRPPRC, ARPC1B, REC8, PAGE4, RBX1, EPHA2, ELAVL1, EIF4A3, RASSF2, ENDOG, AKAP12, TP53I11, GDF15, PCNA, FLT4, PPM1D, RECK, THY1, GSK3B, TUBB2A, TRPC6, TPR, GSPT1, TP53BP2, TOP2A, TLR2, TIMP1, TIA1, THBS1, NR0B2, TH, TGFBR2, HOXA10, HPGD, TFF3, HSD17B2, HSPA1B, HSPA5, TFAP2A, ICAM1, GRIN2B, UPP1, VCAM1, GPR42, FZD4, FN1, FOS, TKTL1, MTOR, FRZB, NR5A2, HMGA2, XRCC6, FZD5, GATA3, GATA4, ZIC1, YES1, XRCC4, GATA6, GJB2, XDH, WNT2B, WNT1, GPI, NAT2
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Dna Repair-Deficiency Disorder
Wikipedia
Protein Pathway Description ATR Nucleotide excision repair [1] deletion of ATR in adult mice leads to a number of disorders including hair loss and graying, kyphosis, osteoporosis, premature involution of the thymus, fibrosis of the heart and kidney and decreased spermatogenesis [2] DNA-PKcs Non-homologous end joining shorter lifespan, earlier onset of aging related pathologies; [3] [4] higher level of DNA damage persistence [5] ERCC1 Nucleotide excision repair , Interstrand cross link repair [6] deficient transcription coupled NER with time-dependent accumulation of transcription-blocking damages; [7] mouse life span reduced from 2.5 years to 5 months; [8] ) Ercc1 −/− mice are leukopenic and thrombocytopenic, and there is extensive adipose transformation of the bone marrow, hallmark features of normal aging in mice [6] ERCC2 (XPD) Nucleotide excision repair (also transcription as part of TFIIH ) some mutations in ERCC2 cause Cockayne syndrome in which patients have segmental progeria with reduced stature, mental retardation, cachexia (loss of subcutaneous fat tissue), sensorineural deafness, retinal degeneration, and calcification of the central nervous system; other mutations in ERCC2 cause trichothiodystrophy in which patients have segmental progeria with brittle hair, short stature, progressive cognitive impairment and abnormal face shape; still other mutations in ERCC2 cause xeroderma pigmentosum (without a progeroid syndrome ) and with extreme sun-mediated skin cancer predisposition [9] ERCC4 (XPF) Nucleotide excision repair , Interstrand cross link repair , Single-strand annealing , Microhomology-mediated end joining [6] mutations in ERCC4 cause symptoms of accelerated aging that affect the neurologic, hepatobiliary, musculoskeletal, and hematopoietic systems, and cause an old, wizened appearance, loss of subcutaneous fat, liver dysfunction, vision and hearing loss, chronic kidney disease , muscle wasting, osteopenia, kyphosis and cerebral atrophy [6] ERCC5 (XPG) Nucleotide excision repair , [10] Homologous recombinational repair , [11] Base excision repair [12] [13] mice with deficient ERCC5 show loss of subcutaneous fat, kyphosis, osteoporosis, retinal photoreceptor loss, liver aging, extensive neurodegeneration, and a short lifespan of 4–5 months ERCC6 (Cockayne syndrome B or CS-B) Nucleotide excision repair [especially transcription coupled repair (TC-NER) and interstrand crosslink repair] premature aging features with shorter life span and photosensitivity, [14] deficient transcription coupled NER with accumulation of unrepaired DNA damages, [15] also defective repair of oxidatively generated DNA damages including 8-oxoguanine , 5-hydroxycytosine and cyclopurines [15] ERCC8 (Cockayne syndrome A or CS-A) Nucleotide excision repair [especially transcription coupled repair (TC-NER) and interstrand crosslink repair] premature aging features with shorter life span and photosensitivity, [14] deficient transcription coupled NER with accumulation of unrepaired DNA damages, [15] also defective repair of oxidatively generated DNA damages including 8-oxoguanine , 5-hydroxycytosine and cyclopurines [15] GTF2H5 (TTDA) Nucleotide excision repair deficiency causes trichothiodystrophy (TTD) a premature-ageing and neuroectodermal disease; humans with GTF2H5 mutations have a partially inactivated protein [16] with retarded repair of 6-4-photoproducts [17] Ku70 Non-homologous end joining shorter lifespan, earlier onset of aging related pathologies; [18] persistent foci of DNA double-strand break repair proteins [19] Ku80 Non-homologous end joining shorter lifespan, earlier onset of aging related pathologies; [20] defective repair of spontaneous DNA damage [18] Lamin A Non-homologous end joining , Homologous recombination increased DNA damage and chromosome aberrations; progeria ; aspects of premature aging; altered expression of numerous DNA repair factors [21] NRMT1 Nucleotide excision repair [22] mutation in NRMT1 causes decreased body size, female-specific infertility, kyphosis, decreased mitochondrial function, and early-onset liver degeneration [23] RECQL4 Base excision repair , Nucleotide excision repair , Homologous recombination , Non-homologous end joining [24] mutations in RECQL4 cause Rothmund-Thomson syndrome, with alopecia, sparse eye brows and lashes, cataracts and osteoporosis [24] SIRT6 Base excision repair , Nucleotide excision repair , Homologous recombination , Non-homologous end joining [25] SIRT6-deficient mice develop profound lymphopenia, loss of subcutaneous fat and lordokyphosis, and these defects overlap with aging-associated degenerative processes [26] SIRT7 Non-homologous end joining mice defective in SIRT7 show phenotypic and molecular signs of accelerated aging such as premature pronounced curvature of the spine, reduced life span, and reduced non-homologous end joining [27] Werner syndrome helicase Homologous recombination , [28] [29] Non-homologous end joining , [30] Base excision repair , [31] [32] Replication arrest recovery [33] shorter lifespan, earlier onset of aging related pathologies, genome instability [34] [35] ZMPSTE24 Homologous recombination lack of Zmpste24 prevents lamin A formation and causes progeroid phenotypes in mice and humans, increased DNA damage and chromosome aberrations, sensitivity to DNA-damaging agents and deficiency in homologous recombination [36] DNA repair defects distinguished from "accelerated aging" [ edit ] Most of the DNA repair deficiency diseases show varying degrees of "accelerated aging" or cancer (often some of both). [37] But elimination of any gene essential for base excision repair kills the embryo —it is too lethal to display symptoms (much less symptoms of cancer or "accelerated aging"). [38] Rothmund-Thomson syndrome and xeroderma pigmentosum display symptoms dominated by vulnerability to cancer, whereas progeria and Werner syndrome show the most features of "accelerated aging". ... "RecQ helicases and PARP1 team up in maintaining genome integrity". Ageing Res. Rev . 23 (Pt A): 12–28. doi : 10.1016/j.arr.2014.12.006 . ... "Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations". Hum. Mutat . 35 (1): 117–28. doi : 10.1002/humu.22462 . PMID 24130121 . ^ a b Meyer LA, Broaddus RR, Lu KH (2009).
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Nickel Allergy
Wikipedia
Examples of systemic reactions can include hand dermatitis , baboon syndrome , or generalized eczematous reactions. [28] Prevention [ edit ] Nickel has a wide utility of application in manufactured metals because it is both strong and malleable, leading to ubiquitous presence and the potential for consumers to be in contact with it daily. ... "Systemic contact dermatitis in children: how an avoidance diet can make a difference". Pediatric Dermatology . 28 (4): 368–74. doi : 10.1111/j.1525-1470.2010.01130.x .
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Xx Male Syndrome
Wikipedia
Adults with this disorder are usually shorter than average for males and are unable to have children (infertile). [3] Epidemiology [ edit ] As of 2010, only 200 cases have been reported — it is estimated that 1 of every 20,000 to 30,000 males has a 46,XX karyotype. [27] [28] [3] See also [ edit ] 46,XX testicular disorders of sex development X chromosome , for other conditions related to the X chromosome. ... American Journal of Medical Genetics . 90 (1): 25–28. doi : 10.1002/(sici)1096-8628(20000103)90:1<25::aid-ajmg5>3.0.co;2-5 .
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Loose Anagen Syndrome
Wikipedia
Dermatology Advisor . 2019-03-13 . Retrieved 2020-05-28 . ^ a b c d e f g h i j k l m n o p q r s t Dhurate, R. ... CS1 maint: multiple names: authors list ( link ) ^ a b c d e f g h i j k l m n o p q r s Maxfield, Luke; Cook, Christopher (2020), "Loose Anagen Syndrome" , StatPearls , StatPearls Publishing, PMID 30252286 , retrieved 2020-05-28 ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine . (6th ed.).
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Leptomeningeal Cancer
Wikipedia
More patients with leptomeningeal metastasis should be enrolled into trials investigating novel agents with the potential to penetrate the blood–brain barrier. [28] Novel approaches are being studied as currently available therapies are toxic and provide limited benefits. [8] History [ edit ] Neoplastic Meningitis (NM) was first reported in the 1870s. [29] Related Diseases [ edit ] Parenchymal Disease occurs in 30-40% of those diagnosed with NM. ... Pathological examination of spinal lesions in meningeal carcinomatosis. Neuropathology, 28(3), 295-302. ^ "Leptomeningeal Carcinomatosis: Practice Essentials, Background, Pathophysiology" . 2017-12-06.
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Hiv/aids In Indonesia
Wikipedia
Of the 34 provinces spread across the vast territories of Indonesia, two provinces represent more than a quarter (28%) of the national total of people living with HIV – DKI Jakarta and Papua ( [8] A generalised epidemic was already under way in the provinces of Papua and West Papua , where a population-based survey found an adult-prevalence rate of 2.4% in 2006. ... Other competing demands on the government such as dealing with natural disasters and other health emergencies such as avian influenza also pose challenges to sustaining the momentum of the AIDS response. [9] Indonesia's local governments have investigated innovative techniques to slow down the spread of the disease, including using microchip tagging technology to keep track of the infected individuals known to be sexually active. [28] International Help [ edit ] Indonesia receives assistance from several international donor organizations, including the Global Fund to Fight AIDS, Tuberculosis and Malaria .
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Developmental Disorder
Wikipedia
There are three subtypes of ADHD: predominantly inattentive, predominantly hyperactive, and combined (which presents as both hyperactive and inattentive subtypes). [27] ADHD is twice as common in boys than girls but it is seen that the hyperactive/impulsive type is more common in boys while the inattentive type affects both sexes equally. [28] Symptoms [ edit ] Symptoms of ADHD include inattentiveness, impulsiveness, and hyperactivity. ... Many children that have this disorder exhibit poor interpersonal relationships and struggle to fit in socially with their peers. [27] Behavioral study of these children can show a history of other symptoms such as temper tantrums, mood swings, sleep disturbances and aggressiveness. [28] Treatment options [ edit ] Treatment of ADHD often includes a combination of psychological, behavioural, pharmaceutical and educational advice and interventions.PTEN, MECP2, SETD1A, SHANK3, DOCK8, SLC6A8, TBCD, NANS, CAMKMT, CNTN4, WDFY4, KCNT1, AS3MT, ARFGAP1, CHRNA4, CHD4, KCNQ2, CBL, LRP2, DRD2, SLC4A4, SLC33A1, SLC2A1, STAMBP, PMP22, KIF1A, MAPK3, PNKP, NTRK2, MSL3, PTPN11, FMR1, FGD1, CREBBP, TP63, CHD7, KRAS, FOXF1, PITX2, NIPBL, PAX6, ELN, RAC1, KCNK9, ACTB, KRT5, CDC42, ARSD, FOXL2, RNU4ATAC, FOXP2, DENR, MID1, SNAP25, ASXL1, SOX2, KCNQ3, PQBP1, IKBKG, NR0B1, PAG1, TBX2, IGF2, HTC2, PCBP4, TBX3, JAG1, RPE65, HNF1B, RAI1, NOTCH3, NRAS, DYRK1A, OPN1LW, RAD51, PIK3CA, ZACN, BBS2, PTCH1, PLAGL1, CKAP4, MED13L, CILK1, TPP1, ZEB2, COG6, GLI1, EIF4E, FGFR2, FOXG1, FOXC1, UVRAG, FOLR1, PUM1, MTOR, FRAXE, GJB2, ATRX, CLN3, TFE3, HIRA, GNAS, LINC01081, LINC01082, ZMYND11, GJB6, MTA2, MAP1LC3C, SRCAP, MIR34A, KIAA0319, TGM5, SMC3, GTF2H5, PDLIM1, EIF2S2, EIF2B2, EIF2B4, SYNGAP1, KPNA7, PUF60, LPAR2, BABAM2, DGCR2, KIAA0586, AKT3, DNM1L, GTF2IRD1, GDF3, HNRNPR, DLK1, POLR1C, TBX4, AKR1A1, KDM5B, POTEF, CFDP1, NRXN1, TRIM32, ZBTB18, CXCR6, KMT2B, LONP1, EMG1, CADPS2, MAST1, TBL1XR1, INPP5E, AGPAT4, ACKR3, CPA6, SALL4, ARID1B, ARHGAP31, NUFIP2, ESCO2, PRUNE1, KMT2C, PRDM13, PROK2, COLEC11, EHMT1, KDM3A, MIPOL1, TRIM71, PIFO, CSPP1, WDR81, UBA5, CPXM2, ZRANB3, RNF135, MYO18B, RAB39B, GPT2, PRRT2, GLYATL1, SMG9, VPS13B, SMCHD1, SMARCAL1, SPECC1L, PEG13, KAT6B, DAPK2, DSTYK, PART1, SETBP1, ZBTB20, G6PC3, ATP2C1, CYP26C1, AHDC1, PCLO, TBK1, KMT5B, RABL6, PCDH12, LINC00299, ZBTB7A, RAB23, POLR3K, KDM3B, RABL3, RBM20, TMCO1, ARX, AHI1, BMPER, SMPD4, FREM3, SLC17A5, CDKL5, CDK13, GABRD, GTF2H1, GRIN2B, GPR42, GLI3, GLI2, GJA1, FRAXA, GTF2H3, AFF2, FGFR3, FGF10, FAT1, EXT2, ERCC3, GTF2H2, GTF2H4, EPHB2, ITPR1, KCNQ1, KCNMA1, KCNJ6, KCNH1, KCNC3, ANOS1, IL10, H1-4, IL6, IGF1, HRAS, HIC1, NRG1, HCCS, ERCC2, EIF2B1, OFD1, ATP2A2, MYRF, BRS3, BRAF, BDNF, BCL6, AVP, ATP1A3, CASP9, APP, AHR, ADSL, ADRA2B, ADRA1A, ADAM10, CACNA1E, CDK8, EGFR, DHCR7, EDNRA, DPYD, DOCK3, DNMT3A, DLG2, DIO3, DACH1, CETN3, CTNNB1, CSNK2A1, CRMP1, CPT1A, COL9A3, CLIC2, KIT, SMAD4, MEIS1, SSTR4, TBX5, MAP3K7, TAF1, STX1A, ACVR1, STIM1, SOX11, NR2F1, SOX10, HLTF, SLC6A3, SHH, SET, SCN2A, TCF4, TGIF1, KITLG, FZD5, FZD1, NAA10, SMC1A, USP9X, KMT2D, LHX3, WT1, TWIST1, VEGFA, VCP, UTRN, UROD, UBE3A, TYR, RPS23, ROBO1, RET, NOTCH1, PIGA, CFP, PDE4D, PDC, SIX6, NR4A2, CNOT3, RARA, NF1, NDN, MTTP, MTHFR, MT1B, KMT2A, PIK3CB, PIK3CD, PIK3CG, PKD1, PLXNA1, PMM2, POLD1, PTPA, PPT1, MAPK1, MAP2K2, MAP2K7, MASP1, RELN, PTGS2, PTPRG, RALA, FMR1-IT1
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Ovarian Germ Cell Tumors
Wikipedia
A surge in the plasma levels of human chorionic gonadotropin and alpha-fetoprotein is indicative of OGMTs. [1] Lactate dehydrogenase , alkaline phosphatase and cancer antigen 125 might potentially increase as well. [24] To visualize the location and morphology of the tumor, transvaginal ultrasonography is usually employed. [1] The most characteristic appearance is a parenchymal-like heteroechoic mass with sharp borders and high vascularization. [1] Computed tomography would produce stacked image inside the peritoneal region of the body to visualise the lobular pattern of the tumour. [1] Usually for dysgerminoma, solid mass being compartmentalized into lobules with enhancing septa may be evident for haemorrhage or necrosis. [1] Preoperative procedures [ edit ] In accordance with FIGO staging guidelines, comprehensive surgical staging will be conducted to examine the extent of tumor spread via peritoneal regions or lymph drainages . 28% of stage II patients will be found with the development of secondary malignant growths at lymph nodes with a distance from a primary site of cancer, called lymph node metastasis . [1] There are three major lymphatic drainage pathways: [1] drainage to the paraaortic lymph nodes via ovarian veins drainage from broad ligament to the iliac lymph nodes drainage from round ligament to the inguinal lymph nodes Palpation or biopsies of unilateral pelvic and para-aortic lymph nodes will be conducted as a preoperative step to deduce the prognosis of the tumour and lymphatic spread [1] Peritoneal biopsies and omentectomy will also be employed to evaluate the extent of tumour content spillage or implantation in peritoneal cavity. [1] Tumor cells may shed off from the original site into the peritoneal cavity and implant onto the liver capsule surface or diaphragm . [24] They may clog up inside the lymphatic vessel around the diaphragm and prevent resorption of peritoneal fluid. [24] In the end, pericardiophrenic lymphadenopathy and ascites may result from this frank invasion. [1] [24] Treatment [ edit ] Surgery [ edit ] Malignant OGCTs are predominantly unilateral and chemosensitive, which means they are localized in only one side of the ovary. [24] Fertility-preserving surgery is primarily standardized to keep the contralateral ovary and fallopian tube intact, also known as unilateral salpingo-oophorectomy. [1] [24] For Stage II patients with observable metastasis, cytoreductive surgery may be performed to debulk the volume of the tumor, such as hysterectomy (removal of all or part of the uterus) and bilateral salpingo-oophorectomy . [1] [24] A surgical incision at the abdominal cavity after the completion of adjuvant chemotherapy, called second look laparotomy , is best applicable for patients reported with teratomatous elements after previous cytoreductive surgery. [1] [24] Adjuvant Chemotherapy [ edit ] A schematic diagram showing the operation of hyperthermic intraperitoneal chemotherapy [25] With a recurrence up to 15-25% for early-stage patients, [1] adjuvant chemotherapy needs to couple with surgical resection of tumor to ensure full salvage. For systemic chemotherapy (issued orally or intravenously), the regimen is standardised in every FIGO staging to comprise bleomycin , etoposide , and cisplatin , also known as the BEP treatment . [2] Patients should be issued with 3-4 cycles of BEP to ensure full salvage. [2] Depending on the personalised conditions, some patients who are non-responders to BEP therapy will be prescribed with salvage therapy, which consists of cisplatin, ifosfamide and paclitaxel . [2] [26] Yet, it is likely that OGCT survivors after BEP therapy will have premature menopause at a rough age of 36. [24] Alternatively, some hospitals opted for platinum-based chemotherapy since the platinum complexes present in the drug intervenes DNA transcription by forming chemical cross-links within the DNA strands, which prevents the reproduction of cancerous cells. [27] The major elements are cisplatin, carboplatin , and oxaliplatin . [28] It has been reported with full recovery among early-stage patients and only a quarter of advanced-stage patients are not salvaged potentially due to drug resistance. [1] [29] For advanced-stage patients, after cytoreductive surgery, invisible microscopic cancerous cells or nodules may still be present at the site of infection. [27] Therefore, doctors may instill a heated chemotherapy solution (~42-43 °C) into the abdominal cavity through carters tubes for 1.5 hours. [30] Based on the principle that cancer cells normally dies at 40 °C, somatic cells remains unaffected since they die at 44 °C. [30] This novel method is proven effective with only 10% recurrence rate and no mortality recorded. [31] It is known as the hyperthermic intraperitoneal chemotherapy (HIPEC), containing docetaxel , and cisplatin. [31] Given the drug is disseminated locally in intraperitoneal regions, it has no systemic side effects on other actively reproducing cells and is preferred over systemic chemotherapy. [30] Typically, uncontrollable drug distribution in systemic chemotherapy results in myelosuppression , specifically with observed febrile neutropenia , neurotoxicity , ototoxicity , and nephrotoxicity . [2] Remedial treatments to deal with chemotherapy-induced toxicities is through injection of granulocyte colony-stimulating factor or myeloid growth factors or oral intake of prophylactic antibiotics. [2] Epidemiology [ edit ] OGCT is a rare tumour under the scope of ovarian cancer, accounting for less than 5% of all ovarian malignancies.
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Receptive Aphasia
Wikipedia
The main goals of this treatment method are to improve the patient's conversational confidence and skills in natural contexts using conversational coaching, supported conversations, and partner training. [28] Conversational coaching involves patients with aphasia and their speech language pathologists, who serve as a "coach" discussing strategies to approach various communicative scenarios. ... Clinicians can teach family members how to support one another, and how to adjust their speaking patterns to facilitate their loved one's treatment and rehabilitation. [28] Prognosis [ edit ] Prognosis is strongly dependent on the location and extent of the lesion (damage) to the brain.
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Management Of Chronic Headaches
Wikipedia
Preventive medications [ edit ] The most common medicines used to treat chronic (daily) headaches are called prophylactic medicines, which are used to prevent headaches. [12] Such preventive medication is taken on a daily basis, even when a person may not have a headache. [12] Prophylactic medicines are recommended for chronic headache patients because varied experiments prove that the medications "reduce the frequency, severity, and disability associated with daily headaches". [13] A majority of the prophylactic medications work by inhibiting or increasing neurotransmissions in the brain, often preventing the brain from interpreting pain signals. [14] Preventive medicines include gabapentin (Neurontin), tizanidine (Zanaflex), fluoxetine (Prozac), amitriptyline (Elavil), and topiramate (Topamax). [13] In testing, gabapentin was found to reduce the number of headache days a month by 9.1%. [13] Tizanidine was found to decrease the average frequency of headaches per week, the headache intensity, and the mean headache duration. [15] Through studies, Fluoxetine resulted in better mood ratings and "significant increases in headache-free days". [16] Despite being associated with depression, antidepressants, such as amitriptyline, have been found to effectively treat "near-daily headaches" and numerous chronic pain conditions as well as improving mood and sleep—two possible triggers for chronic headache sufferers. [17] One study found that the headache frequency over a 28-day period lowered for chronic headache patients on topiramate. [18] Another medication to prevent headaches is botulinum toxin type A (BoNTA or BOTOX), which is given by injection instead of being taken orally. [19] In a clinical study of botulinum toxin type A, patients participating in the 9-month treatment period with three treatments experienced headache frequency decreases up to 50%. [20] As with all medications, the preventive medications may have side effects. ... Trials show that acupuncture can cause "relevant improvements" for people with chronic headaches. [28] Relaxation training [ edit ] Relaxation training is another form of non-pharmacological treatment for chronic headache.
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Monkeypox
Wikipedia
People who had been in contact with the person since he contracted the disease were contacted. [28] A second case was confirmed in the town of Blackpool , [29] [30] with a further case that of a medical worker who cared for the case from Blackpool. [31] A fourth case occurred on 3 December 2019, when monkeypox was diagnosed in a person in south west England. ... Retrieved 27 September 2019 . ^ a b c d "Treatment | Monkeypox | Poxvirus | CDC" . www.cdc.gov . 28 December 2018 . Retrieved 11 October 2019 . ^ a b Hutin YJ, Williams RJ, Malfait P, Pebody R, Loparev VN, Ropp SL, et al. (2001).
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Angioedema
Wikipedia
Lanadelumab inhibits the plasma enzyme kallikrein , which liberates the kinins bradykinin and kallidin from their kininogen precursors and is produced in excess in individuals with HAE types I and II. [24] [25] History [ edit ] Heinrich Quincke first described the clinical picture of angioedema in 1882, [26] though there had been some earlier descriptions of the condition. [27] [28] [29] William Osler remarked in 1888 that some cases may have a hereditary basis; he coined the term "hereditary angio-neurotic edema". [30] The link with C1 esterase inhibitor deficiency was proved in 1963. [31] Epidemiology [ edit ] There are as many as 80,000 to 112,000 emergency department (ED) visits for angioedema annually, and it ranks as the top allergic disorder resulting in hospitalization in the U.S. [32] See also [ edit ] Drug-induced angioedema Gleich's syndrome (unexplained angioedema with high eosinophil counts) Ruconest (C1-inhibitor) References [ edit ] ^ a b c d e f g h i j k l m n o p q r s t Bernstein, JA; Cremonesi, P; Hoffmann, TK; Hollingsworth, J (December 2017). ... Archived from the original (PDF) on 2007-09-28 . Retrieved 2007-01-26 . CS1 maint: archived copy as title ( link ) ^ Drouet C, Désormeaux A, Robillard J, Ponard D, Bouillet L, Martin L, et al. (2008).XPNPEP2, ALB, HLA-DPB1, PLAT, HLA-DRB1, HLA-DQB1, F12, GRK6, SERPING1, DNASE1L3, CPN1, PLG, COL4A1, SPINK5, ABI3BP, SYTL2, IFT43, DPP4
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Dejerine–roussy Syndrome
Wikipedia
"Maladaptive homeostatic plasticity in a rodent model of central pain syndrome: thalamic hyperexcitability after spinothalamic tract lesions" . Journal of Neuroscience . 28 (46): 11959–11969. doi : 10.1523/JNEUROSCI.3296-08.2008 . ... "Perispinal Etanercept for Post-Stroke Neurological and Cognitive Dysfunction: Scientific Rationale and Current Evidence" . CNS Drugs . 28 (8): 679–697. doi : 10.1007/s40263-014-0174-2 .
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Tooth Wear
Wikipedia
This makes things difficult as there is no room to build the teeth back up to their original height without increasing the OVD. [27] The options for restoring this loss in tooth height are the following [28] increasing the OVD - this is the traditional approach and involves restoring all teeth to an increased height in order to create a new ICP at an increased OVD occlusal adjustment - this is typically used for anterior teeth only, whereby the patient's occlusion is reorganised into the RCP position to utilise increased space in this position crown lengthening or orthodontic extrusion - this is useful when crowns are to be placed in a worn dentition but there is inadequate crown height and you do not want to change the OVD relative axial tooth movement - this is the most commonly used method and can be used for localised or generalised wear, the idea is to prop the bite open thereby causing the extrusion of worn teeth to provide extra crown height for restoration, this can be done using simple direct restorations or more complex indirect restorations, this idea was first established by Dahl and is often referred to as the Dahl effect Pulp vitality must also be taken into consideration prior to treatment, when teeth have severe wear it is possible that they have become non-vital. ... "A question of space: options for the restorative management of worn teeth". Dental Update . 28 (3): 118–123. doi : 10.12968/denu.2001.28.3.118 .
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Galactosemic Cataract
Wikipedia
Archived from the original on 2010-07-28. ^ Bosch AM, Grootenhuis MA, Bakker HD, Heijmans HS, Wijburg FA, Last BF (May 2004). ... Journal of Ophthalmology . Retrieved 2020-07-28 . External links [ edit ] Classification D ICD - 9-CM : 366.44 , 271.1 Genetics Home Reference Patient UK v t e Inborn error of carbohydrate metabolism : monosaccharide metabolism disorders Including glycogen storage diseases (GSD) Sucrose , transport (extracellular) Disaccharide catabolism Congenital alactasia Sucrose intolerance Monosaccharide transport Glucose-galactose malabsorption Inborn errors of renal tubular transport ( Renal glycosuria ) Fructose malabsorption Hexose → glucose Monosaccharide catabolism Fructose : Essential fructosuria Fructose intolerance Galactose / galactosemia : GALK deficiency GALT deficiency / GALE deficiency Glucose ⇄ glycogen Glycogenesis GSD type 0 (glycogen synthase deficiency) GSD type IV (Andersen's disease, branching enzyme deficiency) Adult polyglucosan body disease (APBD) Glycogenolysis Extralysosomal: GSD type III (Cori's disease, debranching enzyme deficiency) GSD type VI (Hers' disease, liver glycogen phosphorylase deficiency) GSD type V (McArdle's disease, myophosphorylase deficiency) GSD type IX (phosphorylase kinase deficiency) Lysosomal ( LSD ): GSD type II (Pompe's disease, glucosidase deficiency) Glucose ⇄ CAC Glycolysis MODY 2 / HHF3 GSD type VII (Tarui's disease, phosphofructokinase deficiency) Triosephosphate isomerase deficiency Pyruvate kinase deficiency Gluconeogenesis PCD Fructose bisphosphatase deficiency GSD type I (von Gierke's disease, glucose 6-phosphatase deficiency) Pentose phosphate pathway Glucose-6-phosphate dehydrogenase deficiency Transaldolase deficiency 6-phosphogluconate dehydrogenase deficiency Other Hyperoxaluria Primary hyperoxaluria Pentosuria Aldolase A deficiency v t e Diseases of the human eye Adnexa Eyelid Inflammation Stye Chalazion Blepharitis Entropion Ectropion Lagophthalmos Blepharochalasis Ptosis Blepharophimosis Xanthelasma Ankyloblepharon Eyelash Trichiasis Madarosis Lacrimal apparatus Dacryoadenitis Epiphora Dacryocystitis Xerophthalmia Orbit Exophthalmos Enophthalmos Orbital cellulitis Orbital lymphoma Periorbital cellulitis Conjunctiva Conjunctivitis allergic Pterygium Pseudopterygium Pinguecula Subconjunctival hemorrhage Globe Fibrous tunic Sclera Scleritis Episcleritis Cornea Keratitis herpetic acanthamoebic fungal Exposure Photokeratitis Corneal ulcer Thygeson's superficial punctate keratopathy Corneal dystrophy Fuchs' Meesmann Corneal ectasia Keratoconus Pellucid marginal degeneration Keratoglobus Terrien's marginal degeneration Post-LASIK ectasia Keratoconjunctivitis sicca Corneal opacity Corneal neovascularization Kayser–Fleischer ring Haab's striae Arcus senilis Band keratopathy Vascular tunic Iris Ciliary body Uveitis Intermediate uveitis Hyphema Rubeosis iridis Persistent pupillary membrane Iridodialysis Synechia Choroid Choroideremia Choroiditis Chorioretinitis Lens Cataract Congenital cataract Childhood cataract Aphakia Ectopia lentis Retina Retinitis Chorioretinitis Cytomegalovirus retinitis Retinal detachment Retinoschisis Ocular ischemic syndrome / Central retinal vein occlusion Central retinal artery occlusion Branch retinal artery occlusion Retinopathy diabetic hypertensive Purtscher's of prematurity Bietti's crystalline dystrophy Coats' disease Sickle cell Macular degeneration Retinitis pigmentosa Retinal haemorrhage Central serous retinopathy Macular edema Epiretinal membrane (Macular pucker) Vitelliform macular dystrophy Leber's congenital amaurosis Birdshot chorioretinopathy Other Glaucoma / Ocular hypertension / Primary juvenile glaucoma Floater Leber's hereditary optic neuropathy Red eye Globe rupture Keratomycosis Phthisis bulbi Persistent fetal vasculature / Persistent hyperplastic primary vitreous Persistent tunica vasculosa lentis Familial exudative vitreoretinopathy Pathways Optic nerve Optic disc Optic neuritis optic papillitis Papilledema Foster Kennedy syndrome Optic atrophy Optic disc drusen Optic neuropathy Ischemic anterior (AION) posterior (PION) Kjer's Leber's hereditary Toxic and nutritional Strabismus Extraocular muscles Binocular vision Accommodation Paralytic strabismus Ophthalmoparesis Chronic progressive external ophthalmoplegia Kearns–Sayre syndrome palsies Oculomotor (III) Fourth-nerve (IV) Sixth-nerve (VI) Other strabismus Esotropia / Exotropia Hypertropia Heterophoria Esophoria Exophoria Cyclotropia Brown's syndrome Duane syndrome Other binocular Conjugate gaze palsy Convergence insufficiency Internuclear ophthalmoplegia One and a half syndrome Refraction Refractive error Hyperopia Myopia Astigmatism Anisometropia / Aniseikonia Presbyopia Vision disorders Blindness Amblyopia Leber's congenital amaurosis Diplopia Scotoma Color blindness Achromatopsia Dichromacy Monochromacy Nyctalopia Oguchi disease Blindness / Vision loss / Visual impairment Anopsia Hemianopsia binasal bitemporal homonymous Quadrantanopia subjective Asthenopia Hemeralopia Photophobia Scintillating scotoma Pupil Anisocoria Argyll Robertson pupil Marcus Gunn pupil Adie syndrome Miosis Mydriasis Cycloplegia Parinaud's syndrome Other Nystagmus Childhood blindness Infections Trachoma Onchocerciasis
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Postterm Pregnancy
Wikipedia
Vibroacoustic stimulation and longer monitoring may be needed if NST is non-reactive. [28] Biophysical profile [ edit ] A biophysical profile is a noninvasive procedure that uses the ultrasound to evaluate the fetal health based on NST and four ultrasound parameters: fetal movement, fetal breathing, fetal muscle tone, and the amount of amniotic fluid surrounding the fetus. ... Retrieved 2018-11-15 . ^ Crouch, David (28 October 2019). "Post-term pregnancy research cancelled after six babies die" .
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Solar Urticaria
Wikipedia
Antihistamines suppress the activity of the histamine. [27] Diphenhydramine , a first-generation H1 receptor antagonist or medicine that combats the H1 receptor that is associated with many allergic reactions, [28] has been found to be the most potent antihistamine for this particular disease. ... Tokai Journal of Experimental and Clinical Medicine . 28 (2): 51–55. PMID 14714829 . Archived from the original (PDF) on 2009-03-19 .
