BACKGROUND Urethral duplication and megalourethra are rare urethral anomalies. However, the concomitance of urethral duplication and double megalourethra has not been reported previously. CASE REPORT A newborn was presented with penile swelling during voiding. Physical examination revealed a retractable foreskin and two external meatus of a double urethra. Retrograde urethrography demonstrate...

how to cite this article: mozafari h, taghikhani m, khatami sh, alaei mr, vaisi-raygani a, rahimi z. chitotriosidase activity and gene polymorphism in iranian patients with gaucher disease and sibling carriers. iran j child neurol. autumn 2016; 10(4):62-70. abstract objective chitotriosidase (ct) activity is a useful biomarker for diagnosis and monitoring of gaucher disease (gd). its applicatio...

Logic partitioning is an important area of VLSI CAD, and there have been numerous approaches proposed. Logic replication, the duplication of logic in order to minimize communication between partitions, can be an effective component of a complete partitioning solution. In this paper we seek a better understanding of the important issues in logic replication. By adding new optimizations to existi...

Esophageal duplication cysts are infrequent anomalies of the gastrointestinal tract that are predominantly found in children. The conventional surgical approach for removal of these cysts is an open surgery one with a posterolateral thoracotomy incision. However, more recently, these cysts have been excised via video-assisted thoracoscopic surgery (VATS). In this article, we present 2 pediatric...

This paper presents complete mitochondrial genomes for the sheep blowfly, Lucilia sericata (Meigen), and the secondary blowfly, Chrysomya megacephala (Fabricius). Both L. sericata and C. megacephala had standard dipteran-type mitochondrial genome architectures and lengths of 15 945 bp and 15 831 bp, respectively. Additionally, C. megacephala possessed a tRNA duplication either side of the D-loo...

Congenital cataract is a rare but severe paediatric visual impediment, often caused by variants in one of several crystallin genes that produce the bulk of structural proteins in the lens. Here we describe a pedigree with autosomal dominant isolated congenital cataract and linkage to the crystallin gene cluster on chromosome 22. No rare single nucleotide variants or short indels were identified...