A rare presentation of Carnitine palmitoyltransferase II (CPT-2) deficiency with normal acylcarnitine profile in a 10-year-old boy with muscle weakness and bilateral hearing loss; a case report.

Carnitine palmitoyltransferase II (CPT-2) deficiency is a rare and autosomal recessive disorder of long-chain fatty acids oxidation. Here, we reported a 10-year-old boy with bilateral hearing loss and a myopathic form of CPT II deficiency, which was confirmed by a molecular genetic test. He was admitted to our hospital with unexplained headaches, vomiting, and fever.

Methenyltetrahydrofolate synthease deficiency (MTHFS deficiency): Novel mutation and brain MRI findings: A case report and glance to other cases.

This is a case report of Methenyl Tetrahydrofolate synthetase deficiency (MTHFS deficiency) characterized by global developmental delay, cerebral hypomyelination, severe spastic tonicity in extremities, and microcephaly. Mutation in the MTHFS gene was reported in the Whole Exome Sequencing (WES) and confirmed with Sanger sequencing of parents. It is of great significance to report since it would be the first case of MTHFS mutation reported from Iran and the fourth throughout the world with novel mutation and brain imaging.

A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review.

Variegate Porphyria (VP) is an inherited rare disorder that is caused by mutations in the protoporphyrinogen oxidase (PPOX) gene. This deficiency is associated with the accumulation of porphyrins and porphyrin precursors in the body, which, in turn, can potentially result in a variety of skin and neurological symptoms. Here, we reported a 7-year-old boy with homozygous VP and novel mutation on PPOX gene.

Lessons from Ten Years' the Prevalence of Congenital Rubella Syndrome (CRS) in the Young Population Living in a Developing Country, Tehran; Iran.

Background: A safe and effective rubella vaccine is available and prescribed in IRAN.

Objective: This is a survey of CRS cases collected based on WHO criteria one decade after the MR vaccination campaign (2003).

Methods: This Multi-stage prospective/cross-sectional study was carried out in three stages in 3 educational hospitals in Tehran (Rasoul Aram, Akbar Abadi, and Firoozabadi), In the first stage of the study between 2011 and 2012 total of 186 infants were evaluated, and in the second stage of the study, total 163 blood samples of infants with suspected INTRA UTERINE INFECTION were compared with a group of healthy matched infants.

Serum 25-Hydroxyvitamin D Levels in Pediatric Burn Patients.

Background: Previous studies have implicated the important and active role of vitamin D in the immune system.

Objectives: The aim of this study was to evaluate serum levels of 25-hydroxyvitamin D in children with burn injuries.

Materials And Methods: In this cross-sectional study, 118 patients with various degrees of burn injuries were enrolled.

Therapeutic effects, tolerability and safety of a multi-strain probiotic in Iranian adults with irritable bowel syndrome and bloating.

Background: Irritable bowel syndrome (IBS) is a common disorder in Iran with challenging treatment. Although trials have suggested that probiotics alleviate the complaints of patients with minimal side effects, they have not been investigated in Iranian adults.

Methods: In a randomized double-blind study, 108 eligible IBS patients (Rome III Criteria) aged 20 - 70 years who referred consecutively to a clinical center in Tehran with abdominal bloating from 2010 to 2012 received a combination probiotics or placebo twice daily for 4 weeks.