This case report documents the experience of a 5-year-old girl who showed signs of retinal degeneration as the initial symptom of neuronal ceroid lipofuscinosis (NCLs). She originally presented with visual failure, which rapidly progressed to near total bilateral blindness. Two years later, she developed seizures and cognitive impairment, leading to a diagnosis of NCL7 resulting from a homozygote mutation in the MFSD8 gene.
View Article and Find Full Text PDFObjectives: Acute necrotizing encephalopathy of childhood (ANEC) is a rare, potentially life-threatening condition. This study aimed to identify clinical profiles and outcomes of ANEC while assessing the accuracy of severity scoring in the Iranian population.
Materials & Methods: The present study collected demographic, clinical, laboratory, and radiological data from children diagnosed with ANEC.
Background: Several previous studies indicated that melatonin supplementation may positively affect glycemic control in patients with diabetes. However, research on the influence of melatonin supplementation on glycemic parameters remains inconclusive. Therefore, this study aimed to assess the impacts of melatonin supplementation on glycemic parameters in type 2 diabetes by conducting a meta-analysis.
View Article and Find Full Text PDFObjective: To investigate the predictors of smoking among pregnant women in Iran, focusing on health literacy and associated socioeconomic factors.
Methods: This retrospective cohort study included 103,042 pregnant women aged 18-45 years who attended healthcare centers affiliated with Mashhad University of Medical Sciences for routine prenatal and postnatal checkups between 2017 and 2020. Data were collected from the Sina Electronic Health Record System (SinaEHR), which recorded sociodemographic characteristics, medical history, and lifestyle behaviors, including tobacco use.
Key Clinical Message: Systemic Lupus Erythematosus (SLE) can have an insidious onset and a fatal prognosis in children. Patients presenting without typical signs of SLE should undergo further evaluation if they are not responding to the initial diagnosis and treatment. This is especially true for patients with rapidly progressing symptoms and deterioration in spite of treatment.
View Article and Find Full Text PDFBackground: NBIA (neurodegeneration with brain iron accumulation) is a diverse collection of neurodegenerative illnesses defined by iron accumulation in the basal ganglia. The fatty acid hydroxylase-associated neurodegeneration, or FAHN, is one of the uncommon subtypes of NBIAs, associated with inherited autosomal recessive mutations in gene coding the membrane-bound fatty acid 2 hydroxylase (FA2H) enzyme.
Cases: Here, we report two cases with FAHN from two unrelated families from Iran confirmed by whole exome sequencing.
Objective: The dorsolateral periaqueductal gray (dlPAG) is an area located in the brain stem that performs a host of functions including cardiovascular regulation. Owing to the presence of nitric oxide (NO) in this area, we investigated its effect on the cardiovascular system.
Methods: We divided rats into four groups: 1) control; 2) l-arginine (L-Arg, a precursor for nitric oxide, 60 nmol); 3) l-NAME (N omega-nitro-l-arginine methyl ester, a nitric oxide synthase inhibitor, 90 nmol); and 4) sodium nitroprusside (SNP, a nitric oxide donor, 27 nmol).
Objective: In the current work, we investigated the cytotoxic and apoptotic effects of Thymoquinone (TQ), an active compound of Nigella sativa (N. sativa) and Cis-platinum, on normal renal epithelial (GP-293) and human renal adenocarcinoma cell lines (ACHN).
Methods: GP-293 and ACHN cell lines were cultured in Dulbecco's modified Eagle's medium (DMEM) with 10% Fetal bovine serum (FBS) and 1% penicillin plus streptomycin antibiotic.