Identification of Two Novel Mutations in Gene from Two Families with Polycystic Kidney Disease by Whole Exome Sequencing.

Background: Polycystic kidney disease (PKD) is an autosomal recessive disorder resulting from mutations in the gene on chromosome 6 (6p12), a large gene spanning 470 kb of genomic DNA.

Objective: The aim of the present study was to report newly identified mutations in the gene in two Iranian families with PKD.

Materials And Methods: Genetic alterations of a 3-month-old boy and a 27-year-old girl with PKD were evaluated using whole-exome sequencing.

Association of a novel homozygous mutation in the HMGCS2 gene with an HMGCSD in an Iranian patient.

Background: 3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase 2 gene (HMGCS2) encodes a mitochondrial enzyme catalyzing the first reaction of ketogenesis metabolic pathway which provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are responsible for HMG-CoA synthase deficiency (HMGCSD). The aim of present study was to investigate the association of mutation in the HMGCS2 gene with HMGCSD in a patient with atypical symptoms.

Unexplained facial scar: child abuse or ehlers-danlos syndrome?

Context: Child abuse is a serious problem, and its physical manifestations can be mimicked by certain diseases and conditions. These conditions can include genetic, congenital and other disorders that may result in poor weight gain, bone fractures or skin lesions that look like bruises or burns.

Case Report: This paper reports the case of a seven-year-old girl with Ehlers-Danlos Syndrome (EDS), which was misdiagnosed as child abuse.

Effect of zinc supplementation on markers of insulin resistance, oxidative stress, and inflammation among prepubescent children with metabolic syndrome.

Objective: This trial aimed to evaluate the effects of zinc sulfate in comparison with placebo on markers of insulin resistance, oxidative stress, and inflammation in a sample of obese prepubescent children.

Methods: This triple-masked, randomized, placebo-controlled, crossover trial was conducted among 60 obese Iranian children in 2008. Participants were randomly assigned to two groups of equal number; one group received 20  mg of elemental zinc and the other group received placebo on a regular daily basis for 8 weeks.

Effect of zinc supplementation on insulin resistance and components of the metabolic syndrome in prepubertal obese children.

Objective: Zinc, an essential trace element and a component of many enzymes, is involved in the synthesis, storage and release of insulin. The aim of the present study was to assess the effect of zinc supplementation on insulin resistance and components of the metabolic syndrome in prepubertal obese children.

Design: This triple-masked, randomized, placebo-controlled cross-over trial was conducted among 60 obese Iranian children in 2008.