Edwards syndrome

Edwards Syndrome This is a genetic disorder with 3 chromosomes in chromosome 18 due to an abnormality in the egg or sperm before conception. Most fetuses do not survive and about 50% die in utero, and of those born, only 5-10% survive beyond one year. Babies have abnormally shaped head and other physical characteristics. In addition, sufferers of Edwards syndrome have heart defects. 

Trisomy 18 (Edwards syndrome) is caused by a nondisjunction event during meiosis that results in a fetus having an extra copy of chromosome 18. Although it occurs in only 1 in 8000 births, it is probably the most common chromosome defect at the time of conception. The dramatic change in prevalence is due to the very high fetal loss rate both before 8 weeks ( 80%) and during the second and third trimesters (-70%). Approximately 25% of affected fetuses have... 

Edwards G, Gross MM Alcohol dependence Provisional description of a clinical syndrome. Br MedJ 1 1058-1061, 1976... 

Phagocyte-derived ROMs have been implicated in the pathogenesis of a number of pulmonary diseases, including emphysema, acute respiratory distress syndrome, and various environmental diseases such as asbestos-related fibrosis and cancer (Mossman and Marsh, 1985). The relatively high oxygen tension in pulmonary tissue renders the lung prone to oxidative stress (Edwards and Lloyd, 1988). 

Walker BR, Edwards CRW. Licorice-induced hypertension and syndromes of apparent miner-... 

Aneuploidy in live births and abortions arises from aneuploid gametes during germ cell meiosis. Trisomy or monosomy of large chromosomes leads to early embryonic death. Trisomy of the smaller chromosomes allows survival but is detrimental to the health of an affected person, for example, Down s syndrome (trisomy 21), Patau syndrome (trisomy 13) and Edward s syndrome (trisomy 18). Sex chromosome trisomies (Klinefelter s and XXX syndromes) and the sex chromosome monosomy (XO), known as Turner s syndrome, are also compatible with survival. 

Tincello DG, Saunders PT, Hodgins MB, Simpson NB, Edwards CR, Hargreaves TB, Wu FC. Correlation of clinical, endocrine and molecular abnormalities with in vivo responses to high-dose testosterone in patients with partial androgen insensitivity syndrome. Clin Endocrinol (Oxford) 1997 46(4) 497-506. 

Silverstein FS, Johnson MV, Hutchinson RJ, Edwards NL (1985) Lesch-Nyhan syndrome CSF neurotransmitter abnormalities. Neurology 35 907-911. 

Sanz EJ, De Las-Cuevas C, Bate A, Edwards R. Selective serotonin reuptake inhibitors in pregnant women and neonatal withdrawal syndrome a database analysis. Lancet 2005 365 482-87. 

Bilgrami SF, Metersky ML, McNally D, Naqvi BH, Kapur D, Raible D, Bona RD, Edwards RL, Feingold JM, Clive JM, Tutschka PJ. Idiopathic pneumonia syndrome following myeloablative chemotherapy and autologous transplantation. Ann Pharmacother 2001 35(2) 196-201. 

Mucocutaneous eruption (1999) Edwards SG +, Postgrad Med J 75, 680 (1993) Konishi T +, Eur J Pediatr I 52, 605 Mucocutaneous lymph node syndrome (Kawasaki syndrome)... 

Edwards CR. Primary mineralocorticoid excess syndromes. In Besser M, Burger HG, Jameson JL, eds. Endocrinology, 3rd ed. Philadelphia WB Saunders Co, 1995 1775-803. 

Berger, P. B., Duffy, J., Reeder, G. S., Karon, B. L., and Edwards, W. D., Restrictive cardiomyopathy associated with the eosinophilia-myalgia syndrome, Mayo Clin. Proc., 69, 162, 1994. 

Inhibition of the morphine withdrawal syndrome by a nitric oxide synthase inhibitor, NG-nitro-L-arginine methyl ester Adams, Michael L. Kalicki, Joelle M. Meyer, Edward R. Cicero,... 

Edwards, M.J., et al.. Reversible posterior leukoencephalopathy syndrome following CHOP chemotherapy for diffuse large B-cell lymphoma. Ann Oncol, 2001.12(9) p. 1327-9. 

Edwards RD, Robertson IR, et al. (1993) Case report pelvic pain syndrome - successful treatment of a case by ovarian vein embolisation. Clin Rad 47 429-430... 

Edwards JM, Phinney ES, Taylor IMJr, Kerman EJ, Porter JM. Alpha-2 adrenoceptor differences in vasospastic and obstructive Raynaud s syndrome. 7 Vase Surg 1987 5 38. 

Macdonald S, Gan 1, McKay AJ, Edwards RD (2000) Endovascular treatment of acute carotid blow-out syndrome. J Vase Interv Radiol 11 1184-1188... 

Donald KJ, Edwards RL, McEvoy JD. Alveolar capillary basement membrane lesions in Goodpasture s syndrome and idiopathic pulmonary hemosiderosis. Am J Med 1975 59(5) 642 9. 

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