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Katta Mohan Girisha Abdul Mueed Bidchol Murali Keshava Sarpangala Kapaettu Satyamoorthy 《Indian journal of pediatrics》2014,81(3):302-304
The authors report on a child with Setleis syndrome (OMIM 227260). She is born to a consanguineous couple with bitemporal scar like defects resembling forceps marks. She had other classical features resembling autosomal recessive Setleis syndrome. The authors identified a novel homozygous deletion of a single nucleotide (c.91delC) in TWIST2 gene leading to the premature truncation of protein (p.R31GfsX71). Umbilical hernia and genital anomalies are being reported for the first time with this condition. This is the fourth mutation proven family of Setleis syndrome. 相似文献
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Mahmud H. Abushhewa Mohamed H.S. Abushhiwa Matthew J. Nolan Aaron R. Jex Bronwyn E. Campbell Abdul Jabbar Robin B. Gasser 《Molecular and cellular probes》2010,24(6):346-351
We genetically classified Echinococcus granulosus from humans, cattle and camels in Libya utilizing DNA regions (designated pcox1 and pnad1) within the cytochrome c oxidase subunit 1 (cox1) and NADH dehydrogenase 1 (nad1) mitochondrial genes, respectively. Polymerase chain reaction (PCR)-based single-strand conformation polymorphism (SSCP) analysis of pcox1 and pnad1 amplicons derived from genomic DNA samples from individual cysts (n = 176) revealed four distinct electrophoretic profiles for each locus. Direct sequencing of selected amplicons representing each of these profiles defined four different sequence types for each locus, which were present in five different combinations (designated haplotypes A–E) amongst all 176 isolates. Phylogenetic analysis of concatenated sequence data for these five haplotypes, together with a range of well-defined reference sequences, inferred that all cyst isolates from humans (n = 55) and a small number from cattle (13% of 38) belonged to the G1–G3 complex of E. granulosus (or E. granulosus sensu stricto), whereas most (87%) cysts from cattle and all 83 of them from camels were linked to the G6–G10 complex (or Echinococcus canadensis). The present study provides a foundation for future large-scale studies of the epidemiology and ecology of E. granulosus in Libya and other African countries. 相似文献
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Vijay R. Baral Gruschen R. Veldtman Arthur M. Yue Abdul Duke John M. Morgan 《Journal of interventional cardiac electrophysiology》2004,11(3):211-215
Ventricular tachycardia (VT) is rarely recognized in patients with congenitally corrected transposition of the great arteries (CCTGA). We describe a 48-year-old woman with CCTGA, systemic atrioventricular valve replacement for Ebsteinoid malformation of the valve, ventricular dysfunction and ventricular tachycardia related to the previous surgical scar. The patient had successful non-contact mapping and radiofrequency ablation of the offending tachycardia substrate. 相似文献