Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes.

A targeted customized sequencing of genes implicated in autosomal recessive polycystic kidney disease (ARPKD) phenotype was performed to identify candidate variants using the Ion torrent PGM next-generation sequencing. The results identified four potential pathogenic variants in gene [c.4870C > T, p.

Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease.

Autosomal recessive polycystic kidney disease (ARPKD) a rare genetic disorder, described by formation of cysts in the kidney. A targeted customized sequencing of genes implicated in ARPKD phenotype was performed to identify candidate variants using the Ion torrent PGM next-generation sequencing. The results identified likely pathogenic disease causing variants during the validation process.

Changes in the levels of cytokines in both diabetic/non-diabetic type I children living in a moderate altitude area in Saudi Arabia.

The aim of the present study was to investigate the possible effects of living in moderate altitude area on pro/anti-inflammatory cytokines profile (IFN-γ, TNF-α, IL-6, IL-1β, IL-10, and IL-4) among type I diabetic (T1D) and non- T1D children compared with those living at sea level area. A prospective clinical study was carried out at pediatric outpatient endocrine clinics in Taif City, which is a moderate altitude area in Saudi Arabia, that stands about 1800-2000 meters above sea-level; and in Mecca City, which is a sea level area, that lies in the middle west of Saudi Arabia. Hemoglobin A1c (HbA1c) percentage was estimated and cytokine measurements were performed in sera by flow cytometry using Cytometric Bead Array (CBA) technology.

Rituximab for refractory cases of childhood nephrotic syndrome.

Rituximab has been used over the last decade as a rescue therapy for refractory cases of nephrotic syndrome (NS). Here we report the use of rituximab in four children with idiopathic steroid-resistant nephrotic syndrome (SRNS) with various histological backgrounds (two cases with focal segmental glomerulosclerosis, one case with IgM nephropathy, and one case with minimal change disease), who failed to respond to other immunsuppressions. Their median age (range) was 10 (8-11) years.