Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran.

Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by ichthyosis, spasticity and intellectual disability. The disease is caused by mutations in the ALDH3A2 gene that encodes fatty aldehyde dehydrogenase. We describe 7 Iranian SLS patients from 5 unrelated consanguineous families.

Calcitonin effects on shoulder adhesive capsulitis.

Introduction: Adhesive capsulitis (frozen shoulder) is a relatively prevalent disease of shoulder and affects soft tissue of glenohumeral joint. Signs include painful restricted motion and disability of the patient in daily activities. Calcitonin is a thyroid hormone, and its effectiveness has been demonstrated in painful conditions.

Molecular analysis of the SMN and NAIP genes in Iranian spinal muscular atrophy patients.

Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of spinal cord anterior horn cells, leading to muscular atrophy. SMA is clinically classified into three subgroups based on the age of onset and severity. The majority of patients with SMA have homozygous deletions of exons 7 and 8 of the survival motor neuron (SMN) gene.

A study on plucked hair as a substrate for direct immunofluorescence in pemphigus vulgaris.

Background: It has recently been demonstrated in a study on 15 patients that plucked hair can be used as a substrate for direct immunofluorescence (DIF) in pemphigus.

Objective: Our aim was to assess the sensitivity of DIF on plucked hairs in pemphigus vulgaris (PV) patients with positive DIF of oral mucosa.

Methods: One hundred and ten new PV patients were enrolled in the study.

Video game epilepsy in the twentieth century: a review.

Introduction: Visually evoked seizures have been reported for almost 2,000 years. This source of seizure activity, however, seems to have increased recently with the advent of new technologies used for television and computer games.

Methods: The present paper reviews the literature regarding this interesting phenomenon.