PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran.

Objectives: Infantile neuroaxonal degeneration (INAD) is a rare subgroup of neurodegeneration with brain iron accumulation (NBIA) disorders. This progressive disorder may develop during the early years of life. Affected individuals mostly manifest developmental delay and/or psychomotor regression as well as other neurological deficits.

MicroRNAs as Biomarkers for Early Diagnosis, Prognosis, and Therapeutic Targeting of Ovarian Cancer.

Ovarian cancer is the major cause of gynecologic cancer-related mortality. Regardless of outstanding advances, which have been made for improving the prognosis, diagnosis, and treatment of ovarian cancer, the majority of the patients will die of the disease. Late-stage diagnosis and the occurrence of recurrent cancer after treatment are the most important causes of the high mortality rate observed in ovarian cancer patients.

The worldwide frequency of MYO15A gene mutations in patients with non-syndromic hearing loss: A meta-analysis.

is the third most crucial gene in hereditary sensorineural hearing loss after and . In the present study, we reviewed the prevalence of mutations in patients with autosomal recessive non-syndromic hearing loss (ARNSHL). In this meta-analysis, we conducted a search of PubMed, Web of Science, Excerpta Medica Database, and Scopus, and identified the articles up to September 2019 without any time limit.

A systematic review and meta-analysis of the effect of Vitamin D-fortified food on glycemic indices.

Some reports indicated that Vitamin D may improve glycaemia indices in diabetic patients. The aim of this systematic and meta-analysis was to evaluate effects of Vitamin D fortification on indices of glycemic control. Six databases (PubMed/Medline, ISI Web of Knowledge, Cochrane Library, Science Direct, Scopus, and Google Scholar) were searched, for randomized controlled trials that were published up to September 2018 and that compared the effect of Vitamin D-fortified food versus regular diet in relation to glycemic control.

Investigation of MYO15A and MYO7A Mutations in Iranian Patients with Nonsyndromic Hearing Loss.

Hearing loss (HL) is the most common sensory disorder in humans, which affects individuals in both inherited and acquired forms. MYO15A and MYO7A gene mutations have a significant role in the development of deafness. In this study, we assessed the prevalence of MYO15A and MYO7A mutations in one hundred non-relative deaf Iranians.

Next-generation sequencing and its application in diagnosis of retinitis pigmentosa.

Retinitis Pigmentosa (RP) is a major cause of heritable human blindness with a high genetic heterogeneity. It is characterized by the initial degeneration of rod photoreceptors followed by cone photoreceptors. RP is also a prominent reason of visual impairment, by a global prevalence of 1:4000.