👤 Farzad Ahmadabadi

Obesity is a significant public health issue associated with an elevated risk of chronic diseases. Discovering appropriate exercise interventions combined with beneficial herbal supplements has always been investigated. Hence, our study aimed to assess the impact of 12 weeks of high-intensity interval training (HIIT) and spirulina supplementation on the apolipoproteins, insulin resistance, and body composition of men with obesity. Forty-four men with obesity (height: 168.42 ± 2.63 cm, body mass: 93.24 ± 2.23 kg; BMI: 32.89 ± 1.23 kg/m Show less

Neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative lysosomal storage diseases which are considered among the most frequent causes of dementia in childhood worldwide This study aimed to identify the gene variants, molecular etiologies, and clinical features in 23 unrelated Iranian families with NCL. In total, 29 patients with neuronal ceroid lipofuscinoses (NCLs), diagnosed based on clinical manifestations, MRI neuroimaging, and electroencephalography (EEG), were recruited for this study. Through whole-exome sequencing (WES), functional prediction, Sanger sequencing, and segregation analysis, we found that 12 patients (41.3%) with mutations in the CLN6 gene, 7 patients (24%) with the TPP1 (CLN2) gene variants, and 4 patients (13.7%) with mutations in the MFSD8 (CLN7) gene. Also, mutations in each of the CLN3 and CLN5 genes were detected in 2 cases and mutations of each PPT1 (CLN1) and CLN8 gene were observed in only 1 separate patient. We identified 18 different mutations, 11 (61%) of which are novel, never have been reported before, and the others have been previously described. The gene variants identified in this study expand the number of published clinical cases and the variant frequency spectrum of the neuronal ceroid lipofuscinoses (NCLs) genes; moreover, the identification of these variants supplies foundational clues for future NCL diagnosis and therapy. Show less