Mahtab Khosrofar, Mohammad Reza Pourreza, Samira Asgharzadeh, Parisa Tahmasebi, Elahe Ali Asgari, Reza Ghasemikhah, Nader Saki, Javad Mohammadi-Asl, Morteza Hashemzadeh Chaleshtori, Mohammad Amin Tabatabaiefar,
Volume 20, Issue 3 (6-2017)
Abstract
Abstract
Background: Hearing loss (HL) is the most common congenital defect in humans. One or two in thousand newborn babies have prelingual hearing loss. Autosomal recessive non-syndromic hearing loss (ARNSHL) is the most common form of hereditary deafness. Hearing loss is more common in the developing countries which is due to genetic and environmental (cultural -health factors) reasons. HL has a wide range of clinical demonstrations including: congenital or late onset, conductive or sensory-neural, syndromic or non-syndromic hearing loss. The goal of this project is to determine the portion of the DFNB21 (TECTA) in ARNSHL in families with negative GJB2 gene in Khuzestan province.
Materials and Methods: We studied 21 families with ARNSHL with at least 4 patients and negative for GJB2 mutations from Khuzestan province. Genetic linkage analysis was performed using STR markers linked to DFNB21 locus.
Results: Following genetic linkage analysis and haplotyping, out of 21 families with ARNSHL, one family showed linkage to the DFNB21 (TECTA) locus.
Conclusion: The results of this project confirm other studies in Iran and give insight into the most common loci causing ARNSHL in Iran which could be helpful in research and clinic.
Samira Asgharzade, Mana Shojapour,
Volume 26, Issue 4 (October & November 2023)
Abstract
Background and Aim: Alzheimer's Disease (AD) is a progressive neurodegenerative disease characterized by loss of memory and multiple cognitive impairments.
Materials and Methods: In this study, key terms were searched in reputable Persian and English databases including DOAJ, PubMed, Google Scholar, LISTA (EBSCO), Embase, and Web of Science. Articles focusing on the molecular basis and pathogenesis of the disease, as well as biomarkers for Alzheimer's diagnosis, were reviewed. In this article, we have attempted a comprehensive review not only of the molecular basis of Alzheimer's disease from a molecular medical perspective but also to address numerous molecular diagnostic methods and biomarkers at both clinical and research levels in this disease.
Ethical Considerations: All Ethical principles in writing this article have principles been observed according to the instructions of National Ethics Committee and the COPE regulations
Findings: The results of this review study indicate that the major factors involved in the pathogenesis of Alzheimer's include beta-amyloid peptides, hyperphosphorylation of tau protein, and activation of inflammatory and oxidative stress pathways. Subsequently, this leads to synaptic loss, mitochondrial dysfunction, and proliferation of activated astrocytes and microglia, which are clinically manifested as memory loss in patients."
Conclusion: Although no precise diagnostic method exists for AD, current clinical recommendations for AD diagnosis include assessing tau protein and beta-amyloid (Aβ) peptides in cerebrospinal fluid, magnetic resonance imaging (MRI) for brain volume, and positron emission tomography (PET) scanning for Aβ plaques and/or glucose metabolism in the brain.
