Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families

Neurodevelopmental delay and intellectual disability (ID) can arise from numerous genetic defects. To date, variants in the EXOSC gene family have been associated with such disorders. Using next-generation sequencing (NGS), known and novel variants in this gene family causing autosomal recessive ID (ARID) have been identified in five Iranian families. By collecting clinical information on these families and comparing their phenotypes with previously reported patients, we further describe the clinical variability of ARID resulting from alterations in the EXOSC gene family, and emphasize the role of RNA processing dysregulation in ARID.     

The possible pathophysiology mechanism of cytokine storm in elderly adults with COVID-19 infection: the contribution of “inflame-aging”

Inflammation Research - Novel Coronavirus disease 2019 (COVID-19), is an acute respiratory distress syndrome (ARDS), which is emerged in Wuhan, and recently become worldwide pandemic. Strangely,...     

Prevalence of hepatitis B and hepatitis D coinfection in asymptomatic blood donors in Iran

Hepatitis delta virus (HDV) is a satellite virus that needs hepatitis B virus (HBV) surface antigen for amplification and transition. HDV appears in HBsAg carriers as acute coinfection and superinfection in patients with chronic hepatitis B. This coinfection leads to chronic hepatitis, cirrhosis, and liver carcinoma. The aim of this study was to detect the prevalence of coinfection and superinfection of HBVs and HDVs in blood donor individuals in Iran. Sera from 854 asymptomatic blood donors from the Bank of positive samples storage at the National Blood Transfusion Organization of Iran that were positive for hepatitis B surface antigen were analysed. The presence of antibody against HDV in blood donors was detected using ELISA followed by conventional PCR, seminested PCR and real‐time PCR to determine coinfection and/or superinfection. Restriction fragment length polymorphism was used for HDV genotyping. All 854 samples were HBsAg and anti‐HBc positive whereas only 18 (2%) of them were positive for anti‐HDV. Of the 854 samples, 154 (18%) were HBV‐DNA positive. HDV‐RNA was detected in 0.6% of the total samples by seminested PCR and real‐time PCR and the two PCR methods produced similar results. Moreover, 16.6% and 83.4% of anti‐HDV‐positive samples exhibited coinfection and superinfection with HBV, respectively. Genotype I of HDV was determined in positive samples.