-
Polydactyly, Postaxial, Type A8
Omim
A number sign (#) is used with this entry because of evidence that postaxial polydactyly type A8 (PAPA8) is caused by homozygous mutation in the GLI1 gene (165220) on chromosome 12q13. ... Description Postaxial polydactyly type A8 is characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet.
-
Trigger Finger
Wikipedia
The A1 tendon is released longitudinally and confirmation of release is done by asking the patient to flex their fingers. ... Curr Rev Musculoskelet Med . 1 (2): 92–6. doi : 10.1007/s12178-007-9012-1 . ... PMID 19468879 . ^ a b c d e f g h i j k Hubbard, MJ; Hildebrand, BA; Battafarano, MM; Battafarano, DF (June 2018). ... "Trigger finger: not always work related". J Ky Med Assoc . 94 (11): 498–9. PMID 8973080 . ^ King, Bradley A.; Stern, Peter J.; Kiefhaber, Thomas R. (2013). ... Journal of Bone and Joint Surgery. American Volume . 89 (12): 2604–2611. doi : 10.2106/JBJS.G.00230 .
-
Sticky Platelet Syndrome
Wikipedia
In a lab test called aggregometry platelet stickiness is stimulated with epinephrine (EPI) and/or adenosine diphosphate (ADP). [10] This test is not possible for patients being treated with acetylsalicylic acid until that substance has sufficiently cleared from their system. [ citation needed ] Treatment [ edit ] Those diagnosed are usually treated with taking a low dose (80–100 mg) Aspirin a day. [11] Anticoagulants (e.g. ... Thrombelastography is more commonly being used to diagnose hypercoagulability and monitor anti-platelet therapy. [ citation needed ] See also [ edit ] Thrombophilia References [ edit ] ^ Mammen EF (1999). "Sticky platelet syndrome" . ... PMID 10548069 . ^ Frenkel EP, Mammen EF (February 2003). "Sticky platelet syndrome and thrombocythemia". ... PMID 18662911 . S2CID 42202617 . ^ Mammen EF, Barnhart MI, Selik NR, Gilroy J, Klepach GL (1988). " " Sticky platelet syndrome": a congenital platelet abnormality predisposing to thrombosis?". ... Thrombosis Research . 107 (6): 325–328. doi : 10.1016/S0049-3848(02)00351-1 . PMID 12565719 . ^ Mammen EF (1999). "Sticky platelet syndrome" .
-
Vascular Tumor
Wikipedia
Infantile hemangioma [ edit ] Main article: Infantile hemangioma Infantile hemangiomas are the most common type of vascular tumor to affect babies, [4] accounting for 90% of hemangiomas. [5] They are characterised by the abnormal proliferation of endothelial cells and of deviant blood vessel formation or architecture. [6] Hypoxic stress seems to be a major trigger for this. [7] Infantile hemangiomas are easily diagnosed, and little if any aggressive treatment is needed. [7] They are characterised by rapid growth in the first few months, followed by spontaneous regression in early childhood. [5] Congenital hemangioma [ edit ] Congenital hemangiomas are present and fully formed at birth, [5] and only account for 2% of the hemangiomas. ... Archived from the original on 2 February 2009. ^ Johnson, EF; Davis, DM; Tollefson, MM; Fritchie, K; Gibson, LE (April 2018). ... PMID 29561329 . ^ a b c d e f g h Steiner, JE; Drolet, BA (September 2017). "Classification of Vascular Anomalies: An Update" . ... Dermatology Practical & Conceptual . 5 (1): 91–3. doi : 10.5826/dpc.0501a18 . PMC 4325701 .
-
Corneal Dystrophy, Posterior Polymorphous, 4
Omim
Clinical Features Liskova et al. (2018) described 4 Czech families (C15, C23, C26, and C33) and 2 British families (B4 and B5) with PPCD and mutations in the GRLH2 gene (see MOLECULAR GENETICS), noting that both inter- and intrafamilial variability was present. ... Examination by light microscopy of a full-thickness corneal sample revealed an edematous cornea with variation in endothelial cell size and shape, and focal multilayering of the cells. In British family B5, the proband had markedly asymmetric disease, with diffuse geographic endothelial changes restricted to the left eye, which also exhibited amblyopia and decompensated exotropia, and showed markedly reduced endothelial cell density compared to her right eye. ... Screening the GRHL2 region in 19 unsolved PPCD probands identified 2 different heterozygous 1-bp deletions in intron 1 (see, e.g., 608576.0006) in 2 unrelated British families, B4 and B5. The mutations segregated with disease and were not found in public variant databases.
-
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).
-
Miscarriage
Wikipedia
Those chemicals that are implicated in increasing the risk for miscarriage are DDT , lead , [88] formaldehyde , arsenic , benzene and ethylene oxide . ... 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. ... "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
-
Amastia
Wikipedia
"Congenital amastia". Indian Journal of Pediatrics . 80 (10): 870–1. doi : 10.1007/s12098-012-0919-1 . ... The Breast . Elsevier. pp. 177–196.e7. doi : 10.1016/b978-0-323-35955-9.00013-1 . ... Breast Physiology . The Breast . Elsevier. pp. 37–56.e6. doi : 10.1016/b978-0-323-35955-9.00003-9 .
-
Reading Disability
Wikipedia
PMID 2465364 . S2CID 19788503 . ^ McCandliss BD, Noble KG (2003). "The development of reading impairment: a cognitive neuroscience model". ... ISBN 978-1-55766-676-5 . OCLC 57652241 . ^ Pennington BF, Santerre-Lemmon L, Rosenberg J, et al. ... Brain Res Cogn Brain Res . 16 (2): 185–91. doi : 10.1016/S0926-6410(02)00270-7 . ... Retrieved 2009-11-07 . ^ Ferrer E, Shaywitz BA, Holahan JM, Marchione K, Shaywitz SE (January 2010). ... J Child Psychol Psychiatry . 44 (8): 1079–91. CiteSeerX 10.1.1.456.6283 . doi : 10.1111/1469-7610.00193 .
-
Hyperglycinemia, Lactic Acidosis, And Seizures
Omim
Studies of cells from the 2 probands showed decreased activity of the pyruvate dehydrogenase complex with absent or decreased lipoylated E2 subunits. Patient cells also showed absent activity of the glycine cleavage enzyme system. ... Immunohistochemical and immunoblot studies showed a decrease in the E2 (608770)- and E3 (238331)-binding proteins of the pyruvate dehydrogenase complex, the E2 subunit of alpha-ketoglutarate (126063), and lipoic acid.
-
Celiac Disease, Susceptibility To, 1
Omim
Thus, the estimated biopsy-proved prevalence was 1 case in 99 children. All but 2 of the antibody-positive subjects had either the HLA-DQ2 or the HLA-DQ8 haplotype. ... Pathogenesis Falchuk et al. (1972) found that a particular HLA type (A8) showed an abnormally high frequency in patients with this disorder. ... Antibody occurred in these persons regardless of whether HLA-B8 and/or HLA-DR3 antigen was present. ... Simoons (1981) observed a negative correlation between the frequency of antigen HLA-B8 and the length of time that wheat farming has been practiced in various parts of Europe. ... Like celiac disease, dermatitis herpetiformis shows a high frequency of HLA-A8 (Falchuk et al., 1972; Katz et al., 1972).
-
Abortion
Wikipedia
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. ... Such methods are rarely used in countries where surgical abortion is legal and available. [81] Safety A likely illegal abortion flyer in South Africa The health risks of abortion depend principally upon whether the procedure is performed safely or unsafely. 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. ... "Vaginal delivery may result in dissemination of neoplastic cells into lymphovascular channels, haemorrhage, cervical laceration and implantation of malignant cells in the episiotomy site, while abdominal delivery may delay the initiation of non-surgical treatment." [167] History and religion Main articles: History of abortion and Religion and abortion Bas-relief at Angkor Wat , Cambodia , c. 1150, depicting a demon inducing an abortion by pounding the abdomen of a pregnant woman with a pestle . [80] [168] "French Periodical Pills".
-
Wheat Allergy
Wikipedia
Asian Pac. J. Allergy Immunol . 22 (4): 183–90. PMID 15783130 . . ^ Akiyama H, Sakata K, Yoshioka Y, et al. (2006). ... Allergy Clin. Immunol . 117 (3): 676–81. doi : 10.1016/j.jaci.2005.11.040 . ... Allergy Clin. Immunol . 84 (1): 72–89. doi : 10.1016/0091-6749(89)90181-4 . ... "Food and food additives in severe atopic dermatitis". Allergy . 44 (8): 588–94. doi : 10.1111/j.1398-9995.1989.tb04205.x . ... The Journal of Headache and Pain . 6 (2): 91–2. doi : 10.1007/s10194-005-0158-1 .
-
Medical Abortion
Wikipedia
"Medical abortion in the late first trimester: a systematic review" . Contraception . 99 (2): 77–86. doi : 10.1016/j.contraception.2018.11.002 . ... "First-trimester abortion in women with medical conditions" . Contraception . 86 (6): 622–630. doi : 10.1016/j.contraception.2012.09.001 . ... "Change cuts infections linked to abortion pill" . San Francisco Chronicle . p. A1. ^ Mindock, Clark (October 31, 2016). ... "Medical abortion reporting of efficacy: the MARE guidelines" . Contraception . 94 (2): 97–103. doi : 10.1016/j.contraception.2016.04.013 . ... American Journal of Obstetrics and Gynecology . 218 (3): 315.e1–315.e6. doi : 10.1016/j.ajog.2017.11.555 .
-
Septic Arthritis
Wikipedia
Synovial fluid cultures will be positive in 80% of the cases. However, acid fast smears are not useful. ... PMID 21961455 . ^ 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 aj ak al am an ao ap aq ar as at au av aw ax ay az ba bb bc bd be bf bg bh bi bj bk bl bm bn bo bp bq br bs bt bu bv bw bx Horowitz, DL; Katzap, E; Horowitz, S; Barilla-LaBarca, ML (15 September 2011). ... Academic Emergency Medicine . 18 (8): 781–96. doi : 10.1111/j.1553-2712.2011.01121.x . ... PMID 17405973 . ^ 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 aj ak al am an ao ap Goldberg, D.L.; Sexton, D.J. (2017). ... PMC 1752430 . PMID 9306869 . Weston VC, Jones AC, Bradbury N, Fawthrop F, Doherty M (April 1999).
- Marjolin's Ulcer Wikipedia
- Mallet Finger Wikipedia
-
Murcs Association
Wikipedia
. ^ Mahajan, P; Kher, A; Khungar, A; Bhat, M; Sanklecha, M; Bharucha, BA (Jul–Sep 1992). "MURCS association--a review of 7 cases". ... "MURCS association with additional congenital anomalies". Human Pathology . 17 (1): 88–91. doi : 10.1016/s0046-8177(86)80160-5 .
-
Yunis–varon Syndrome
Wikipedia
American Journal of Human Genetics . 92 (5): 781–91. doi : 10.1016/j.ajhg.2013.03.020 . ... American Journal of Human Genetics . 84 (1): 85–88. doi : 10.1016/j.ajhg.2008.12.010 . ... American Journal of Human Genetics . 92 (5): 781–91. doi : 10.1016/j.ajhg.2013.03.020 . ... American Journal of Human Genetics . 92 (5): 781–91. doi : 10.1016/j.ajhg.2013.03.020 . ... American Journal of Human Genetics . 92 (5): 781–91. doi : 10.1016/j.ajhg.2013.03.020 .
-
Trichomoniasis
Wikipedia
Trichomonas vaginalis culture tests are relatively cheap; however, sensitivity is still somewhat low (70-89%). [20] The third method includes the nucleic acid amplification tests (NAATs) which are more sensitive. [20] These tests are more costly than microscopy and culture, and are highly sensitive (80-90%). [21] Prevention [ edit ] Use of male condoms or female condoms may help prevent the spread of trichomoniasis, [22] although careful studies have never been done that focus on how to prevent this infection. ... The American Journal of Tropical Medicine and Hygiene . 90 (5): 800–804. doi : 10.4269/ajtmh.13-0723 . ... Archived from the original on 2017-02-15. In 80% of cases, the diagnosis of trichomoniasis is confirmed by microscopic examination of saline wet mount, with the observation of motile trichominondas; their shape is "football-like" with moving flagella. ^ Fouts AC, Kraus SJ (February 1980). ... Gynekologie (in Czech) (2nd ed.). Prague: Galen. p. 136. ISBN 978-80-7262-501-7 . ^ a b c d Munson E (January 2014). ... Trichomoniasis - CDC Fact Sheet. 2012. ^ Satterwhite CL, Torrone E, Meites E, Dunne EF, Mahajan R, Ocfemia MC, et al. (March 2013).