Loss of helicase C-terminal domain of SMARCAL1 protein associated with severe Schimke immuno-osseous dysplasia.

Schimke immuno-osseous dysplasia (SIOD) is a rare multi-system condition caused by biallelic loss-of-function mutations in the SMARCAL1 gene. This disorder is characterized by disproportionate growth failure, T-cell deficiency, and renal dysfunction. Pathogenic variants in the SMARCAL1 gene have been reported in only approximately half of SIOD-affected individuals.

Topical tranexamic acid as a novel treatment for bleeding peptic ulcer: A randomised controlled trial.

Background: Peptic ulcers are among the most common causes of upper gastrointestinal (GI) bleeding in children. The standard care for GI bleeding is endoscopy for diagnostic and therapeutic purposes. We aimed to assess the effect of topical tranexamic acid (TXA) via endoscopic procedures in children with GI bleeding caused by bleeding ulcers.

Electrophysiologic pattern and prevalence of subclinical peripheral neuropathy in children and adolescents with type I diabetes mellitus in Iran.

Objectives: To evaluate electrophysiologic pattern of subclinical diabetic peripheral neuropathy (DPN) in children and adolescents with type 1 diabetes mellitus (T1DM) based on nerve conduction study.

Methods: In this cross sectional study, 40 children and adolescents (62.5% female with mean age of 12.

Effect of insulin therapy on IGF-1 level in children with new-onset type 1 diabetes mellitus: a comparison between DKA and non-DKA.

Background And Objective: The issue of insulin-like growth factor 1 (IGF-1) and diabetes in adults and type 2 diabetes has been well investigated. A few studies have investigated the serum IGF-1 level at the onset of type 1 diabetes mellitus (T1DM) in children. In the present study, we investigated the IGF-1 level of T1DM children before and after insulin therapy.

Comparison of vitamin D deficiency and secondary hyperparathyroidism in obese and non-obese children and adolescents.

Obesity subjects individuals into metabolic and endocrine disorders. Thus obesity may increase the risk of vitamin D deficiency. This text aims at studying the prevalence of vitamin D deficiency and secondary hyperparathyroidism in obese children.

Prevalence of impaired glucose tolerance and insulin resistance among obese children and adolescents.

Purpose: Obesity is one of the most important nutritional disorders in the world which has an obvious relationship with the incidence of metabolic diseases. Obesity prevalence has increased among children and adolescents during recent decades, leading to a rise in Type 2 diabetes mellitus (DM II) prevalence in these two age brackets. Hence, the aim of this study was to assess impaired glucose tolerance and insulin resistance, and gather metabolic findings in obese children and adolescents.