Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran.

Background: Newborn screening is essential for the early detection of congenital genetic and metabolic disorders, enabling timely intervention to prevent morbidity, mortality, and disabilities associated with inherited metabolic disorders (IMDs). The Iranian Neonatal Screening Program piloted in Fars Province, screening nearly 100% of neonates for 20 disorders. This study aimed to assess the epidemiology of these metabolic diseases.

Comparing body composition measures in children with end stage liver disease using noninvasive bioimpedance analysis.

Background: Chronic liver disease (CLD) in children, often leads to cirrhosis and end-stage liver disease (ESLD). CLD poses significant challenges in management and prognosis. Assessing body composition, including sarcopenia, is increasingly recognized as important in understanding outcomes in this population.

Gene Analysis in Southern Iranian CAH Patients and a Brief Review of the Mutation Spectrum.

Background: gene mutations are responsible for more than 95% of Congenital Adrenal Hyperplasia (CAH) disorders with autosomal recessive inheritance. Most of these pathogenic mutations originate from the , a neighboring pseudogene with 98% homology, due to unequal crossing over or gene conversion events. Mutation identification of the gene could be beneficial for accurate diagnosis and outcome prediction.

Cohort Profile: Shiraz Pediatric Liver Cirrhosis Cohort (SPLCCS).

Liver diseases in children and adolescents are a significant and arising public health issue and should be surveyed from different dimensions (clinical and para-clinical, psychological, socio-economic) and in diverse populations. Shiraz Liver Transplant Center, Shiraz, Iran is the only center for pediatric liver transplantation and its pre-operative evaluations. This provides a unique and valuable situation for studying this vulnerable population.

Adrenal insufficiency as a rare manifestation of secondary antiphospholipid syndrome: A pediatric case report and review of articles.

Key Clinical Message: Adrenal insufficiency is a rare, important manifestation of secondary antiphospholipid syndrome (APS) in pediatrics. In the presence of hematologic disorders such as thrombosis, we should consider APS.

Abstract: Adrenal insufficiency can rarely occur in the context of vascular disorders and thrombosis in patients with antiphospholipid syndrome.