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Zika Fever
Wikipedia
While mosquitoes are the vector , the main reservoir species remains unknown, though serological evidence has been found in both West African monkeys and rodents. [32] [33] Transmission [ edit ] Transmission is via the bite of mosquitoes from the genus Aedes , primarily Aedes aegypti in tropical regions. It has also been isolated from Ae. africanus , Ae. apicoargenteus , Ae. luteocephalus , [34] Ae. ... Surveys have found antibodies to Zika in healthy people in India which could indicate past exposure, though it could also be due to cross-reaction with other flaviviruses. [94] By using phylogenetic analysis of Asian strains, it was estimated that Zika virus had moved to Southeast Asia by 1945. [46] In 1977–1978, Zika virus infection was described as a cause of fever in Indonesia. [95] Before 2007, there were only 13 reported natural infections with Zika virus, all with a mild, self-limited febrile illness. [32] [96] Yap Islands [ edit ] Main article: 2007 Yap Islands Zika virus outbreak The first major outbreak, with 185 confirmed cases, was reported in 2007 in the Yap Islands of the Federated States of Micronesia. [97] A total of 108 cases were confirmed by PCR or serology and 72 additional cases were suspected. ... "Zika virus: a previously slow pandemic spreads rapidly through the Americas" (PDF) . Journal of General Virology . 97 (2): 269–273. doi : 10.1099/jgv.0.000381 . ... "Blood safety and zoonotic emerging pathogens: now it's the turn of Zika virus!" . Blood Transfusion . 14 (2): 93–94. doi : 10.2450/2015.0187-15 . PMC 4781775 . ... Journal of Clinical Virology . 43 (1): 96–101. doi : 10.1016/j.jcv.2008.05.005 .ERVK-32, RAF1, IVNS1ABP, PTPN11, ERVK-6, IFNA1, IFNA13, STAT2, IFNAR1, IFNAR2, AXL, IL1B, TNF, DDX58, PLAAT4, ROBO3, RSAD2, IFNL1, KRAS, TP53, IFNB1, HPR, IL6, ALB, IFNL2, NLRP3, STAT1, CD40LG, TAM, TLR3, CD14, CXCL10, STING1, SMPD3, HSPA4, G3BP1, IRF3, HMOX1, ITPA, PERCC1, ERVK-20, GAPDH, IFIH1, FGF2, ERVW-1, ISG15, ZBP1, CH25H, NTPCR, PARP1, WWTR1, PHGDH, KPNA6, CEP131, RASSF1, HAVCR1, TUBB3, RIPK3, IFITM3, HSP90B1, TXN, TYRO3, MOGS, RIPK1, GNE, SART3, B3GAT1, ALDH5A1, PPIP5K1, ARTN, NR1I2, FOXD3, PAF1, AGO2, APOBEC3C, EDC3, MAP1LC3B, TRIM56, MFSD2A, SLFN11, NEURL3, TWIST2, TRIM69, WIPF2, TICAM1, MIR34A, MIR34C, CD24, LINC01672, ERVK-18, ZC3H12A, PARP12, TRPV4, SMOX, C19orf53, F11R, CHCHD2, ISYNA1, PHAX, XRN1, DDIT4, MIB1, TFAP2A, ATG16L1, VAC14, PARD3, MAVS, NUFIP2, TFRC, ADAR, TAC3, EIF4G1, EIF5A, EPHB2, EZH2, F3, FCGR3A, FCGR3B, FMR1, GABPA, GDNF, CXCL2, PDIA3, HLA-E, HNRNPA2B1, HNRNPD, IFI16, IFIT1, IFNGR1, EIF4G2, SARDH, STAT5B, DHX9, AP2A1, AGRP, ATF4, ATM, BCL2, BMP6, CASP1, CASP3, CAT, CD48, CHML, COL11A2, CSF2, CUX1, DCX, DDX3X, DDX6, IFNR, IL1A, IDO1, INSR, PIK3CD, PIK3CG, MAPK1, UPF1, RPE, SAT1, SRL, CCL2, ADM, CCL8, CXCL11, SELP, SOAT1, SOD2, SOX2, STAT3, STAT5A, PIK3CB, PIK3CA, PDB1, MDM2, INSRR, IRF1, LAMP1, LAMC2, LCN2, LTBR, CAPRIN1, CXCL9, PCM1, MAP3K11, MS, MSI1, MSX1, NFE2L2, OAS3, PAX7, CCL5
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Abortion
Wikipedia
Although it is very uncommon in the United States, more than 80% of induced abortions throughout the second trimester are labor-induced abortions in Sweden and other nearby countries. [74] Only limited data are available comparing this method with dilation and extraction. [74] Unlike D&E, labor-induced abortions after 18 weeks may be complicated by the occurrence of brief fetal survival, which may be legally characterized as live birth. ... The degree of force, if severe, can cause serious internal injuries without necessarily succeeding in inducing miscarriage . [79] In Southeast Asia, there is an ancient tradition of attempting abortion through forceful abdominal massage. [80] One of the bas reliefs decorating the temple of Angkor Wat in Cambodia depicts a demon performing such an abortion upon a woman who has been sent to the underworld . [80] Reported methods of unsafe, self-induced abortion include misuse of misoprostol and insertion of non-surgical implements such as knitting needles and clothes hangers into the uterus. ... The World Health Organization (WHO) defines unsafe abortions as those performed by unskilled individuals, with hazardous equipment, or in unsanitary facilities. [82] Legal abortions performed in the developed world are among the safest procedures in medicine. [5] [83] In the United States as of 2012, abortion was estimated to be about 14 times safer for women than childbirth. [10] CDC estimated in 2019 that US pregnancy-related mortality was 17.2 maternal deaths per 100,000 live births, [84] while the US abortion mortality rate is 0.7 maternal deaths per 100,000 procedures. [6] [85] In the UK, guidelines of the Royal College of Obstetricians and Gynaecologists state that "Women should be advised that abortion is generally safer than continuing a pregnancy to term." [86] Worldwide, on average, abortion is safer than carrying a pregnancy to term. A 2007 study reported that "26% of all pregnancies worldwide are terminated by induced abortion," whereas "deaths from improperly performed [abortion] procedures constitute 13% of maternal mortality globally." [87] In Indonesia in 2000 it was estimated that 2 million pregnancies ended in abortion, 4.5 million pregnancies were carried to term, and 14-16 percent of maternal deaths resulted from abortion. [88] In the US from 2000 to 2009, abortion had a lower mortality rate than plastic surgery , and a similar or lower mortality rate than running a marathon. [89] Five years after seeking abortion services, women who gave birth after being denied an abortion reported worse health than women who had either first or second trimester abortions. [90] The risk of abortion-related mortality increases with gestational age, but remains lower than that of childbirth. [91] Outpatient abortion is as safe from 64 to 70 days' gestation as it before 63 days. [92] There is little difference in terms of safety and efficacy between medical abortion using a combined regimen of mifepristone and misoprostol and surgical abortion (vacuum aspiration) in early first trimester abortions up to 10 weeks gestation. [57] Medical abortion using the prostaglandin analog misoprostol alone is less effective and more painful than medical abortion using a combined regimen of mifepristone and misoprostol or surgical abortion. [93] [94] Vacuum aspiration in the first trimester is the safest method of surgical abortion, and can be performed in a primary care office , abortion clinic , or hospital. Complications, which are rare, can include uterine perforation , pelvic infection , and retained products of conception requiring a second procedure to evacuate. [95] Infections account for one-third of abortion-related deaths in the United States. [96] The rate of complications of vacuum aspiration abortion in the first trimester is similar regardless of whether the procedure is performed in a hospital, surgical center, or office. [97] Preventive antibiotics (such as doxycycline or metronidazole ) are typically given before abortion procedures, [98] as they are believed to substantially reduce the risk of postoperative uterine infection; [72] [99] however, antibiotics are not routinely given with abortion pills. [100] The rate of failed procedures does not appear to vary significantly depending on whether the abortion is performed by a doctor or a mid-level practitioner . [101] Complications after second-trimester abortion are similar to those after first-trimester abortion, and depend somewhat on the method chosen. [102] The risk of death from abortion approaches roughly half the risk of death from childbirth the farther along a woman is in pregnancy; from one in a million before 9 weeks gestation to nearly one in ten thousand at 21 weeks or more (as measured from the last menstrual period). [103] [104] It appears that having had a prior surgical uterine evacuation (whether because of induced abortion or treatment of miscarriage) correlates with a small increase in the risk of preterm birth in future pregnancies.
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Macrocephaly-Capillary Malformation
Wikipedia
American Journal of Human Genetics . 90 (6): 1108–15. doi : 10.1016/j.ajhg.2012.05.006 . ... American Journal of Medical Genetics . 90 (4): 265–9. doi : 10.1002/(SICI)1096-8628(20000214)90:4<265::AID-AJMG1>3.0.CO;2-S . ... PMID 10649789 . ^ Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, et al. (2007). ... PMID 9354837 . ^ Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, et al. (1997). "Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities" . ... American Journal of Medical Genetics . 158A (2): 269–91. doi : 10.1002/ajmg.a.34402 . PMID 22228622 .
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Renal Tubular Acidosis
Wikipedia
American Journal of Kidney Diseases . 68 (3): 488–98. doi : 10.1053/j.ajkd.2016.03.422 . ... A defect in bicarbonate reabsorption with normal urinary acidification" . Pediatric Research . 1 (2): 81–98. doi : 10.1203/00006450-196703000-00001 . ... Journal of the American Society of Nephrology . 13 (8): 2160–70. doi : 10.1097/01.ASN.0000023430.92674.E5 . PMID 12138150 . ^ de Jong PE, Koomans HA, Weening JJ (2000). ... "Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus". Human Genetics . 99 (5): 634–7. doi : 10.1007/s004390050419 . ... The Journal of Pediatrics . 8 (4): 489–99. doi : 10.1016/s0022-3476(36)80111-5 . ^ Baines AM, Barelay JA, Cooke WT (1945).SLC4A1, SLC4A4, SLC12A3, FOXI1, ATP6V0A4, CTSB, CYP11B1, ATP6V1B1, CLCNKB, SURF1, NUBPL, KYNU, SCO2, CLDN16, VIPAS39, NDUFAF3, EPG5, COQ2, RMND1, PDSS2, VPS33B, NADK2, NOTCH2, NDUFS2, NDUFB8, CAD, CPT1A, CA2, PDB1, ERBB2, MRGPRF, NT5C1A, CA1, CLCN5, CLCN7, COX16, COX10, EPHA3, ATP6V0A2, BAMBI, SLC26A4, RBFOX2, SLC12A7, NR5A1, GH1, KCNMA1, NR3C2, FGF23, PHA2A, PFKP, PFKM, JAG1
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Anthrax
Wikipedia
Anthrax toxin is a mixture of three protein components: protective antigen (PA), edema factor (EF), and lethal factor (LF). [33] PA plus LF produces lethal toxin, and PA plus EF produces edema toxin. ... Before 2001, fatality rates for inhalation anthrax were 90%; since then, they have fallen to 45%. [20] People that progress to the fulminant phase of inhalational anthrax nearly always die, with one case study showing a death rate of 97%. [52] Anthrax meningoencephalitis is also nearly always fatal. [53] GI infections can be treated, but usually result in fatality rates of 25% to 60%, depending upon how soon treatment commences. ... For example, in 1942, British bioweapons trials severely contaminated Gruinard Island in Scotland with anthrax spores of the Vollum-14578 strain , making it a no-go area until it was decontaminated in 1990. [89] [90] The Gruinard trials involved testing the effectiveness of a submunition of an "N-bomb" – a biological weapon containing dried anthrax spores. ... Jeanne Guillemin reported in 1999 that a combined Russian and United States team investigated the accident in 1992. [94] [95] [96] Nearly all of the night-shift workers of a ceramics plant directly across the street from the biological facility (compound 19) became infected, and most died. ... "A national register of historic and contemporary anthrax foci". Journal of Applied Microbiology . 87 (2): 192–5. doi : 10.1046/j.1365-2672.1999.00868.x .ANTXR2, ANTXR1, BRAF, MAP2K1, NLRP1, VWF, ITIH4, CAP1, ADAMTS13, IMMT, KIF1C, SORBS1, ACTB, HACD1, CNTNAP1, PPIP5K2, VEGFA, TLR4, YWHAZ, BRD4, UBR2, SET, PADI4, ZDHHC5, FBXO8, GAL, PGPEP1, NLRC4, NOD2, FBRS, ARAP3, PAGR1, PLB1, SREBF2, SELP, SELPLG, LCN2, BAK1, BMP1, CALR, CASP1, COL11A2, CTAA1, EPHB2, ERBB2, NR5A1, GAST, GALNS, IL1B, STT3A, LGALS1, PARP1, LNPEP, LRP6, LRP5, NR4A2, PAEP, PRDX1, SERPINB6, PLA2G1B, PLG, PRCP, MAPK1, MAP2K3, ROS1, HNP1
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East Coast Fever
Wikipedia
Endemic cattle given medication sometimes recover to varying degrees, or death follows due to blocked capillaries and parasites infecting the central nervous system . [7] Cattle in endemic areas which survive infection become carriers. [ citation needed ] For diagnosis, post mortem findings are characteristic and mainly include damage to the lymphoid and respiratory systems. [ citation needed ] Treatment and control [ edit ] One study using the medicinal plant Peganum harmala showed it to have a lifesaving effect on cattle infected with East Coast fever. [8] The classical treatment with tetracyclines (1970–1990) cannot provide efficiency more than 50%. [ citation needed ] Since the early 1990s, buparvaquone is used in bovine theileriosis with remarkable results (90 to 98% recovery). [ citation needed ] Other than the buparvaquones, other chemotherapeutic options are the parvaquones , e.g. ... PMID 22958352 . ^ Norval RA, Perry BD, Young AS (1992). The Epidemiology of Theileriosis in Africa . ... Vet Immunol Immunopathol . 20 (3): 213–37. doi : 10.1016/0165-2427(89)90003-2 . PMID 2497579 . ^ Derakhshanfar A, Mirzaei M (March 2008).
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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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Inborn Errors Of Carbohydrate Metabolism
Wikipedia
Diagnostic tests Treatment References and links Glycogenolysis final step: Release of G-1-P – Phosphorylase kinase, alpha 1 (Activation of liver glycogen phosphorylase, c.f. GSD 6) PHKA2 : Liver (GSD 9a) PHKB : Liver, Muscle (GSD 9b) PHKG2 : Liver (GSD 9c) GSD type IX (GSD 9, phosphorylase b kinase deficiency, PhK deficiency, liver glycogenosis) Formerly GSD type VIII (GSD 8) GSD 9a: Liver form. ... Additionally mild myopathy like GSD 9d. Rare. GSD 9c : Similar to GSD 9a, but tends to be more severe. ... Exercise test : Muscle involvement see GSD 9d. NLM/GHR: PHKA2 OMIM: PHKA2 NLM/GHR: PHKB OMIM: PHKB NLM/GHR: PHKG2 OMIM: PHKG2 NLM/GHR: GSD 9 ORPHA: GSD 9 OMIM: GSD 9a1/9a2 ORPHA: GSD 9a/9c OMIM: GSD 9b ORPHA: GSD 9b OMIM: GSD 9c Glycogenolysis final step: Release of G-1-P – Phosphorylase kinase, alpha 1 (Activation of muscle glycogen phosphorylase, c.f. ... Normal or exaggerated ammonia response. [11] NLM/GHR: PHKA1 OMIM: PHKA1 NLM/GHR: GSD 9 OMIM: GSD 9d ORPHA: GSD 9d/9e Degradation of glycogen to glucose in lysosomes – Acid alpha-glucosidase (Alternative pathway to glycogenolysis) GAA: Myopathy GSD type II (GSD 2, Pompe's disease, acid maltase deficiency, deficiency of lysosomal alpha-glucosidase, cardiomegalia glycogenica) Classic infantile form (Pompe disease) : Cardiomyopathy and muscular hypotonia. ... "Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease" . Front Neurol . 7 : 82. doi : 10.3389/fneur.2016.00082 .
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Female Genital Mutilation
Wikipedia
Road sign near Kapchorwa , Uganda , 2004 Definition "Partial or total removal of the external female genitalia or other injury to the female genital organs for non-medical reasons" ( WHO , UNICEF , and UNFPA , 1997). [1] Areas Africa , Southeast Asia , Middle East , and within communities from these areas [2] Numbers Over 200 million women and girls in 27 African countries; Indonesia ; Iraqi Kurdistan ; and Yemen (as of 2016) [3] Age Days after birth to puberty [4] Prevalence Ages 15–49 Somalia (98%) Guinea (97%) Djibouti (93%) Sierra Leone (90%) Mali (89%) Egypt (87%) Sudan (87%) Eritrea (83%) Burkina Faso (76%) Gambia (75%) Ethiopia (74%) Mauritania (69%) Liberia (50%) Guinea-Bissau (45%) Chad (44%) Côte d'Ivoire (38%) Nigeria (25%) Senegal (25%) Central African Republic (24%) Kenya (21%) Yemen (19%) United Republic of Tanzania (15%) Benin (9%) Iraq (8%) Togo (5%) Ghana (4%) Niger (2%) Uganda (1%) Cameroon (1%) [3] Ages 0–14 Gambia (56%) Mauritania (54%) Indonesia (49%, 0–11) Guinea (46%) Eritrea (33%) Sudan (32%) Guinea-Bissau (30%) Ethiopia (24%) Nigeria (17%) Yemen (15%) Egypt (14%) Burkina Faso (13%) Sierra Leone (13%) Senegal (13%) Côte d'Ivoire (10%) Kenya (3%) Uganda (1%) Central African Republic (1%) Ghana (1%) Togo (0.3%) Benin (0.2%) [3] Female genital mutilation ( FGM ), also known as female genital cutting and female circumcision , [a] is the ritual cutting or removal of some or all of the external female genitalia . ... Over 200 million women and girls are thought to be living with FGM in those 30 countries. [3] [79] The highest concentrations among the 15–49 age group are in Somalia (98 percent), Guinea (97 percent), Djibouti (93 percent), Egypt (91 percent) and Sierra Leone (90 percent). [80] As of 2013, 27.2 million women had undergone FGM in Egypt, 23.8 million in Ethiopia, and 19.9 million in Nigeria. [81] There is a high concentration in Indonesia, where according to UNICEF Type I (clitoridectomy) and Type IV (symbolic nicking) are practised; the Indonesian Ministry of Health and Indonesian Ulema Council both say the clitoris should not be cut. ... [p] For example, Burkina Faso fell from 89 percent (1980) to 58 percent (2010); Egypt from 97 percent (1985) to 70 percent (2015); and Kenya from 41 percent (1984) to 11 percent (2014). [88] Beginning in 2010, household surveys asked women about the FGM status of all their living daughters. [89] The highest concentrations among girls aged 0–14 were in Gambia (56 percent), Mauritania (54 percent), Indonesia (49 percent for 0–11) and Guinea (46 percent). [3] The figures suggest that a girl was one third less likely in 2014 to undergo FGM than she was 30 years ago. [90] According to a 2018 study published in BMJ Global Health , the prevalence within the 0–14 year old group fell in East Africa from 71.4 percent in 1995 to 8 percent in 2016; in North Africa from 57.7 percent in 1990 to 14.1 percent in 2015; and in West Africa from 73.6 percent in 1996 to 25.4 percent in 2017. [91] If the current rate of decline continues, the number of girls cut will nevertheless continue to rise because of population growth, according to UNICEF in 2014; they estimate that the figure will increase from 3.6 million a year in 2013 to 4.1 million in 2050. ... In half the countries for which national figures were available in 2000–2010, most girls had been cut by age five. [4] Over 80 percent (of those cut) are cut before the age of five in Nigeria, Mali, Eritrea, Ghana and Mauritania. [95] The 1997 Demographic and Health Survey in Yemen found that 76 percent of girls had been cut within two weeks of birth. [96] The percentage is reversed in Somalia, Egypt, Chad and the Central African Republic, where over 80 percent (of those cut) are cut between five and 14. [95] Just as the type of FGM is often linked to ethnicity, so is the mean age. In Kenya, for example, the Kisi cut around age 10 and the Kamba at 16. [97] A country's national prevalence often reflects a high sub-national prevalence among certain ethnicities, rather than a widespread practice. [98] In Iraq, for example, FGM is found mostly among the Kurds in Erbil (58 percent prevalence within age group 15–49, as of 2011), Sulaymaniyah (54 percent) and Kirkuk (20 percent), giving the country a national prevalence of eight percent. [99] The practice is sometimes an ethnic marker, but it may differ along national lines.
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Miscarriage
Wikipedia
If a viable intrauterine pregnancy is not found with ultrasound, blood tests (serial βHCG tests) can be performed to rule out ectopic pregnancy, which is a life-threatening situation. [90] [91] If hypotension , tachycardia , and anemia are discovered, exclusion of an ectopic pregnancy is important. [91] A miscarriage may be confirmed by an obstetric ultrasound and by the examination of the passed tissue. ... Crown–rump length of less than 7 mm and no heartbeat. [93] [94] Mean gestational sac diameter of at least 25 mm and no embryo. ... Absence of embryo with heartbeat 7–10 days after a scan that showed a gestational sac with a yolk sac. [93] [94] Absence of embryo at least 6 weeks after last menstrual period . [93] [94] Amniotic sac seen adjacent to yolk sac, and with no visible embryo. [93] [94] Yolk sac of more than 7 mm. [93] [94] Small gestational sac compared to embryo size (less than 5 mm difference between mean sac diameter and crown–rump length). [93] [94] Classification [ edit ] A threatened miscarriage is any bleeding during the first half of pregnancy. [95] At investigation it may be found that the fetus remains viable and the pregnancy continues without further problems. [ medical citation needed ] An anembryonic pregnancy (also called an "empty sac" or "blighted ovum") is a condition where the gestational sac develops normally, while the embryonic part of the pregnancy is either absent or stops growing very early. ... Ultrasound in Obstetrics & Gynecology . 38 (4): 371–82. doi : 10.1002/uog.10056 . PMID 21830244 . ... "Recurrent miscarriage: causes, evaluation and management". Postgraduate Medical Journal . 91 (1073): 151–62. doi : 10.1136/postgradmedj-2014-132672 .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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Scleroderma, Familial Progressive
Omim
Black et al. (1983) found in scleroderma due to vinyl chloride the same relationship to HLA types B8 and DR3 and the same anticentromere and other antibodies as in idiopathic scleroderma. ... ICBR was predominantly observed in linkage disequilibrium with HLA haplotype A1, Cw7, B8, C4AQ0B1, DR3, which is frequently observed in autoimmune diseases. ... Kinetochore-specific autoantibodies are demonstrable in the sera of over 90% of CREST patients (Fritzler and Kinsella, 1980; Moroi et al., 1980; Tan et al., 1980). ... Association with the STAT4 Gene on Chromosome 2q32.2-q32.3 Rueda et al. (2009) observed that the T allele of rs7574865 of the STAT4 gene (600558) was significantly associated with susceptibility to limited cutaneous systemic sclerosis (LCSSC) (p = 1.9 x 10(-5); odds ratio, 1.61), but not with diffuse cutaneous systemic sclerosis (DCSSC) in a Spanish case-control study of 242 LCSSC patients, 90 DSSSC patients, and 1,296 controls A dosage effect was observed with the TT genotype increased in LCSSC patients compared with controls (p = 1.02 x 10(-7); odds ratio, 3.34).IRF5, STAT4, CD247, TNIP1, PSORS1C1, CCN2, HLA-DQB1, COL1A2, CCN1, RHOB, SIRT1, HDAC5, S1PR5, SIRT7, PHF21A, XYLT2, ACTA2, NECTIN2, FOSL2, FBN1, FLI1, FSTL1, TGFBR1, CSF1, COL3A1, PTPN22, HLA-DPB1, PAH, TNFAIP3, BLK, DNASE1L3, PXK, ITGAM, NOTCH4, LMNA, WRN, JAZF1, TNPO3, LBR, IL12RB2, NFKB1, TYK2, KIAA0319L, SOX5, SMG7, CYP21A2, RNPC3, CRP, LINC01924, AVEN, RBM45, PRR12, VEGFA, PSORS1C2, DGKQ, CSK, IL13, ARHGAP31, ACE, EDN1, GSDMA, SAMD9L, DDX6, TPI1P2, TLR4, IL12RB1, IL10, IL6, IL4, TNF, IL17A, IL1B, IL1A, MSH5, IFNG, CDHR5, TNXB, NUP85, HSPA1L, NAB1, NCF2, HLA-DRB1, UROS, HLA-DRA, HLA-DQB2, HLA-DPA1, LRMDA, HFE, GRB10, GRB2, COL1A1, ZC3H10, CXCL8, MMP1, PHRF1, FN1, UROD, TIMP1, LINC00305, ANKS1A, MUC22, LEMD3, ATG5, TGFB1, IKZF2, AP4B1-AS1, HLA-DPA2, SLC29A3, POLD1, CCL2, GSDMB, SS18L1, AGER, SMAD3, MSH5-SAPCD1, ESYT1, STK19, ACR, IL12A-AS1, SLC12A3, PTPN11, LINC01500, CHRM5, CLCNKB, ICAM1, IFNA1, TOP1, CTLA4, IFNA13, FOXP3, CAV1, NOS3, BTG3, TNFSF13B, MMP9, HGF, PF4, HLA-DQA1, IL2, MMRN1, PPARG, CCL18, ACTB, CD19, CD226, MUC1, MIR21, MAPK1, MS4A1, IL22, KRT20, AIF1, ADIPOQ, CXCL10, HLA-C, SPARC, MMP2, IL33, MMP12, FAM167A, FLII, SMAD2, LGALS3, IL21, GEM, STAT3, AGT, DKK1, TSSK1B, IRAK1, TNC, FAS, POSTN, TGFBI, ENG, MIR29A, MIR155, CD40, BANK1, KIR3DL1, EGF, PLAU, BCL2, HIF1A, PSS, SMAD7, SFTPD, CD40LG, GRAP2, MAPK3, FGF2, TRIM21, DECR1, CDH11, VWF, CENPA, IGFBP3, TLR9, MAPK14, SELE, TNFSF14, AHSA1, CRK, AIMP2, GDF15, MMP3, CCL5, CD34, THBS1, HT, SERPINE1, CD28, CD22, KL, TSLP, FBL, POLDIP2, TNFSF4, RNF19A, FCGR3A, PLOD2, SELP, EXOSC10, AKT1, KIR2DS1, GSTK1, SELL, SLCO6A1, PTGS2, AGTR1, CENPB, IL18, CYCS, CXCR2, IL13RA1, IL2RA, PLG, PTPRC, TNFRSF14, CHI3L1, CXCL13, IL6ST, TRBV20OR9-2, CXCR4, NLRP3, TGFB2, CCL21, CXCL12, CCR7, POLR3A, HLA-A, HLA-B, EDNRA, ESR1, GATA3, IL23R, MUC5B, IRF7, TLR2, CEBPZ, SRF, SPP1, EGR1, HLA-G, MIF, IFNL1, GRN, MTOR, CD69, CD70, KIR2DS2, COL18A1, IL23A, DCN, SNRNP70, EGFR, TGFBR2, PTX3, CASP1, PDGFRB, MECP2, MET, TAP1, SMAD4, DDX19A, TAP2, MCAM, NAT2, TAL1, PRTN3, SERPINE2, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PLAUR, SERPINF2, PMP22, HPGDS, SLPI, SERPINF1, RARRES2, REN, TSSK2, ROS1, S100A4, S100A7, S100A9, CCL7, CX3CL1, PI3, ICOS, MPO, NOS2, MPZ, TAGLN, GDE1, MYBL2, SCLY, SLC27A5, NFE2L2, NM, TLR8, TLR7, PDGFRA, EGFL7, TNFRSF11B, ADAMTS13, P4HB, IL21R, NOX4, RO60, TBX21, PDGFA, SRY, IRF8, EDNRB, GSTM1, COMP, CSF2, CTNNB1, DDX46, CYP2B6, CYP2D6, DNMT1, DPP4, LRPPRC, LOX, EPHB2, VDR, EZH2, PTK2B, PLD4, FCGR3B, FCN2, VCAM1, DBA2, IL17F, FOS, FOSB, ACKR1, GABPA, GPI, MIR126, CCR8, CCR6, BLM, TNFSF10, ADAM8, NR0B1, PDE5A, ALOX5, CCR2, AQP3, IKBKG, DHX16, ATM, BCL6, KLF5, CENPC, CD163, CASP3, SERPINH1, CD14, CD86, CD58, CD68, MIR196A1, FGF23, MIR150, CEL, CXCR3, SDC2, GSTT1, KRT7, IFN1@, IFNAR1, JUNB, TNNC1, TNFRSF1B, IGFBP5, IL1R1, KIR3DL2, IL1RN, SEMA4A, SMOC1, IL16, ISG20, ITGA5, TIMP2, KIR2DL2, ITGB2, THY1, KCNA5, JUN, JUND, RETN, KLK1, PARP9, HRAS, ATP8B4, HLA-DRB5, HAX1, TRAF6, ZBP1, LGALS9, LEP, WDR11, GZMA, TP53, TWIST1, GTF2I, COPB2, MSC, ASAP2, SLC33A1, ICOSLG, KLF4, CCL27, APLN, OSMR, EIF2S2, SMG1, KDM6B, UTP14A, PAPOLA, UTS2, EIF2B4, SPAG9, MBD4, ACSBG1, BICD2, EIF2B2, EIF2B5, PLCL2, TIMELESS, SLIT2, FHL5, UBE4A, PPIG, SUB1, TNFSF15, SPIN1, ZNRD2, EBI3, SEMA4D, RPP14, NXF1, LIAS, CDK2AP2, TAB1, ZMPSTE24, EMG1, SEMA3A, UBE4B, CDC42EP1, RNPS1, MAGI2, CNTRL, PLAA, NLRP1, TSIX, NID2, TUSC2, PDAP1, ACOT7, BMS1, TREX1, WIF1, ROCK2, RPP38, CXCL14, SEMA3E, MRPS30, DIABLO, SYNE1, CARD16, H4-16, IL34, LRRC34, SPAAR, HFM1, APOBEC3A, PRSS55, IFNL3, NANOS2, STING1, FCRL6, ACTBL2, LINC01193, DNAAF3, FAM111B, MMP21, CDCA5, MIR130B, PRRT2, SHCBP1, STN1, TRPM3, PDCD1LG2, SLC38A1, TLR10, FCRL4, LOXL4, NT5C1A, IL1F10, SPZ1, TUBA1C, HAVCR2, SYS1, INTS4, ENHO, MIR142, SIRT3, NCF1, MIR542, MIR618, TSPY3, POTEF, MIR708, C20orf181, CD24, TSPY10, MIR3606, OTUD6B-AS1, MIR5196, APOBEC3A_B, PGR-AS1, UPK3B, MTCO2P12, LGALS7B, POTEM, MIR145, MIR483, MIR146A, MIR17, MIR200C, MIR206, MIR26B, MIR30A, MIR17HG, POTEKP, MIR135B, MIR151A, PLF, KIR2DL5B, H4C15, MIR202, MIR193B, SUV39H2, NAA16, GGCT, IL17B, DLL1, TRBV28, TRBV20-1, TRBV3-1, LAMTOR2, FLVCR1, RGCC, SETD2, TBK1, TRPM5, IL19, EFEMP2, KLK12, DUOX2, MBL3P, RBMS3, BBC3, WNK1, DNAI1, CBX5, MMD, SEC14L2, RBFOX2, SMUG1, FAM215A, PLD3, IL17RA, POLR1A, TSKU, LRIT1, PRPF31, ERAL1, GREM1, HAVCR1, ASAP1, TAS2R13, SOST, TNFRSF12A, GOPC, CD248, SMURF1, MRTFA, SPG16, TRIB3, SCAF1, SIGIRR, TRPV4, RXFP1, FBRS, CHST8, GORASP1, SMURF2, IL25, PTLAH, DOK5, IL26, ROBO4, CSAD, OTUD6B, RTRAF, SF3B6, CD244, DUOX1, FBLIM1, IFT122, FAM20A, MTPAP, SLC47A1, CHRNA9, CARMIL1, HHAT, CDK5R1, CXCL5, NRP1, HLA-DMB, HLA-DPB2, HMGB1, HOXA9, HOXD13, HP, HPRT1, HSPA4, HSP90AA1, HSP90AB1, HSPG2, HTR2A, ICAM2, ID2, IFI16, IFIT1, IFNAR2, IGF1, HLA-DOA, HLA-DMA, IL2RB, HDC, FGF6, VEGFD, FKBP1A, FOXC1, FOXO3, FLNB, FLT1, FLT4, FOLR2, FPR2, GAB1, GCHFR, GLB1, GLI1, GSK3B, GYPA, HCL2, IL1RAP, IL3, MMP10, KIR2DS3, KNG1, KRAS, KRT1, LAG3, LGALS7, LIF, LIFR, LOXL2, LTA, SMAD1, MBD1, MBL2, CD46, MEFV, MFGE8, KITLG, MIP, KLRB1, KIR2DL3, IL6R, KDR, IL7R, IL9, IL10RB, IL11, IL12A, IL13RA2, TNFRSF9, IDO1, IRF4, ITGA2, ITGAL, ITGAV, ITGB3, ITGB5, ITGB8, JAK1, JAK2, FCGR2B, FCGR2A, F8, AQP1, ABCC6, RHOA, RHOC, ATF3, BGN, BMP6, BMPR2, BPI, BST2, CALCA, CAPG, CAST, CAT, RUNX3, CBL, CD1A, CD1D, AR, APOH, F2R, APOE, ABL1, ACACA, ACP3, ACTG1, ACTG2, ACVRL1, ADA, ADORA2A, PARP1, APLNR, ALB, ALDH3A2, ALOX5AP, ANGPT1, ANGPT2, ANXA1, AIRE, TNFRSF8, CD36, CD44, CD72, CYP1A1, CYP2C9, DDT, DLAT, DNAH5, ATN1, DSG2, HBEGF, ECE1, EDA, EGR2, EGR3, EIF2B1, ELANE, EP300, EPHA1, ETS1, CYBB, CYBA, CTSV, CHRM3, CDC42, CDH5, CDK5, CDK6, CDKN2A, CDSN, CENPE, CCR3, CTSG, LTB4R, CNR1, CNR2, CRYGD, CST3, CST4, NKX2-5, KMT2A, MMP14, NRP2, TBX1, TEK, TERC, TG, TIMP3, TIMP4, TLR3, TLR5, TM7SF2, TNFRSF1A, TPI1, TPO, CRISP2, TRPC1, TSHR, TSPY1, TTN, TNFRSF4, TRB, ADAM17, SUMO1, TAC1, SNAI2, SMN1, SMN2, SIGLEC1, SOAT1, SOD1, SOD3, SOX2, SP1, SPG7, SRPK2, SSB, STAT5A, STAT5B, STAT6, SULT1E1, SYT1, TXN, SCGB1A1, MNAT1, H4C11, H4C8, H4C2, H4C5, H4C13, H4C14, LTBP4, NR0B2, MMP23B, MMP23A, FCN3, USO1, RTCA, SSNA1, OASL, MBTPS1, TNFSF13, TNFRSF10B, H4C3, H4C12, EZR, H4C6, VIM, VIP, VIPR2, VTN, WNT1, WNT3, XRCC1, XRCC4, YY1, PTP4A1, EOS, ARHGEF5, CDR3, H4C9, AXIN2, H4C1, H4C4, SLC25A1, SLC11A1, SLC6A4, DDR2, OXCT1, P2RX7, PAK3, PAM, REG3A, PCBD1, PCM1, PDCD1, PDE4A, PDGFB, ENPP2, PGF, PGGT1B, PGM1, ABCB1, SERPINA1, PIK3C2B, OAS2, YBX1, ST3GAL1, NPPB, MS, MSN, MSR1, MT1G, MT3, COX2, MTHFR, MUC2, MX1, MYB, MYBPH, MYC, NDN, NFIC, NFIX, NOS1, NOTCH1, PLAT, POMC, PRKCA, PRKCB, S100A6, SCN9A, CCL17, CCL19, CCL24, CCL25, CXCL6, CXCL11, SERPINA3, XCL1, SDC1, SDHC, SELPLG, SFRP1, SFRP4, SFTPB, ST6GAL1, RXRB, RORC, ROCK1, PTBP1, PRKCD, PRKG1, MAP2K7, EIF2AK2, PRL, PRS, PSMB6, PTEN, RNASE3, PTGIR, PVR, PXN, RAC1, RAG2, RELA, RHCE, H3P8
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Meckel Syndrome, Type 10
Omim
The proband was from a larger cohort of 96 unrelated MKS patients. Immunoprecipitation studies showed that the mutant S101R protein failed to interact with MKS1 (609883), although it retained its ability to interact with B9D1 (614144). The results indicated that a complex of B9 proteins cooperate to support mammalian ciliogenesis and ciliary protein localization. ... INHERITANCE - Autosomal recessive HEAD & NECK Head - Frontal bossing (JBTS) Ears - Dysplastic ears (JBTS) Eyes - Ptosis (JBTS) - Epicanthus (JBTS) - Small palpebral fissures (JBTS) Mouth - Cleft palate (JBTS) - Tongue tumors (JBTS) ABDOMEN Biliary Tract - Ductal plate malformation (MKS) - Persistent of bile duct remnants (MKS) GENITOURINARY External Genitalia (Male) - Micropenis (JBTS) - Hypospadias (JBTS) Kidneys - Renal cysts (MKS) SKELETAL Limbs - Tibial and fibular mesomelic dysplasia (1 JBTS patient) Hands - Postaxial polydactyly Feet - Postaxial polydactyly SKIN, NAILS, & HAIR Skin - Sacral dimple (MKS) NEUROLOGIC Central Nervous System - Anencephaly (1 MKS patient) - Occipital encephalocele (MKS) - Seizures (JBTS) - Molar tooth sign (JBTS) - Foramen magnum encephalocele (1 JBTS patient) MISCELLANEOUS - Two MKS fetuses and two JBTS patients have been reported (as of November 2017) MOLECULAR BASIS - Caused by mutation in the B9 domain-containing protein 2 gene (B9D2, 611951.0001 ) ▲ Close
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Schwannomatosis 2
Omim
Piotrowski et al. (2014) characterized the pathogenesis of tumor development as resulting from 3 mutational events: a germline LZTR1 mutation (E1), a deletion of 22q that includes the LZTR1 and NF2 genes (E2), and a somatic NF2 mutation (E3).
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Taurodontism
Wikipedia
Here a tooth is tarodont if AB/AC >= 0.2 and BD > 2.5mm (A: Lowest point of the roof of the pulp chamber. ... Pp. 147-148,473-478.L ^ Shaw JC (1928) Taurodont teeth in South African races. Journal of Anatomy 62, 476–98. ^ Schiffman A, Chanannel I. Prevalence of taurodontism found in radiographic dental examination of 1200 young adult Israeli patients.
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Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Omim
Clinical Features Cantu et al. (1991) described 2 unrelated patients, a 21-year-old male and an 11-year-old female, with a form of osteochondrodysplasia that was later called spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS), Fantasy Island syndrome, or Tattoo dysplasia (Cantu, 1995; Lachman, 2007). ... Garcia-Cruz et al. (2007) proposed that SED-BDS is inherited in an autosomal dominant manner since both sexes were affected and parental consanguinity was absent.
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Facial Infiltrating Lipomatosis
Wikipedia
"Congenital Infiltrating Lipomatosis of the Face" . Annals of Plastic Surgery . 80 (1): 83–89. doi : 10.1097/SAP.0000000000001213 . ... Plastic and Reconstructive Surgery . 136 : 72–73. doi : 10.1097/01.prs.0000472371.96995.e5 . ^ Clinical trial number NCT03094832 for "Study of ARQ 092 in Subjects With PIK3CA-related Overgrowth Spectrum and Proteus Syndrome (MOSAIC)" at ClinicalTrials.gov ^ Clinical trial number NCT04085653 for "Managed Access Program (MAP) to Provide Alpelisib (BYL719) for Patients With PIK3CA-Related Overgrowth Spectrum (PROS)" at ClinicalTrials.gov
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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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Genetics Of Obesity
Wikipedia
"Obesity in anaesthesia and intensive care" . Br J Anaesth . 85 (1): 91–108. doi : 10.1093/bja/85.1.91 . PMID 10927998 . ^ Yang W, Kelly T, He J (2007). ... "A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity" . Science . 316 (5826): 889–94. doi : 10.1126/science.1141634 . PMC 2646098 . PMID 17434869 . ^ Rampersaud E, Mitchell BD, Pollin TI, et al. (2008). "Physical activity and the association of common FTO gene variants with body mass index and obesity" . Arch Intern Med . 168 (16): 1791–97. doi : 10.1001/archinte.168.16.1791 . ... "Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden" . Hum. Mol. Genet . 18 (8): 1489–96. doi : 10.1093/hmg/ddp041 . PMC 2664142 .
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Twin Anemia-Polycythemia Sequence
Wikipedia
American Journal of Obstetrics and Gynecology . 199 (5): 514.e1–514.e8. doi : 10.1016/j.ajog.2008.03.050 . ... American Journal of Obstetrics and Gynecology . 201 (4): 417.e1–417.e7. doi : 10.1016/j.ajog.2009.07.046 . ... American Journal of Obstetrics and Gynecology . 198 (2): e4–e7. doi : 10.1016/j.ajog.2007.08.073 .
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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 .