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.

Identification of Two Novel Mutations in the Gene from Patients with Ataxia-Telangiectasia by Whole Exome Sequencing.

Background: Ataxia telangiectasia (AT) is one of the most common autosomal recessive hereditary ataxia presenting in childhood. The responsible gene for AT designated ATM (AT, mutated) encodes a protein which is involved in cell cycle checkpoints and other responses to genotoxicity. We describe two novel disease-causing mutations in two unrelated Iranian families with Ataxia-telangiectasia.

Teaching medical ethics: problem-based learning or small group discussion?

Lecture is the most common teaching method used in ethics education, while problem-based learning (PBL) and small group discussion (SGD) have been introduced as more useful methods. This study compared these methods in teaching medical ethics. Twenty students (12 female and 8 male) were randomly assigned into two groups.