Study of the Effects of N-acetylcysteine on Inflammatory Biomarkers and Disease Activity Score in Patients with Rheumatoid Arthritis.

Rheumatoid arthritis (RA) is considered as an autoimmune-related condition in which the overproduction of pro-inflammatory cytokines leads to an inflammatory cascade. N-acetylcysteine (NAC) is a potent anti-inflammatory and anti-oxidant agent. We aimed to explore the impact of oral NAC on cytokines activities and clinical indicators in RA patients.

Evaluating the elimination status of medications used for COVID-19 during hemoperfusion and therapeutic plasma exchange: A review.

Since late 2019, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, better known as COVID-19) has rapidly spread worldwide. The primary pathophysiology by which COVID-19 leads to severe lung damage is cytokine releasing syndrome (CRS), which can cause death. Therefore, removing cytokines via therapeutic plasma exchange or hemoperfusion could be a therapeutic approach to treat CRS.

Glutamine powder-induced hepatotoxicity: it is time to understand the side effects of sports nutritional supplements.

Glutamine has been considered as a dietary supplement with a non-essential amino acid structure. Some studies have found that liver failure may be associated with a high plasma glutamine level. Consumption of this product may be linked to potential adverse effects.

Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes.

Intellectual disability (ID), which presents itself during childhood, belongs to a group of neurodevelopmental disorders (NDDs) that are clinically widely heterogeneous and highly heritable, often being caused by single gene defects. Indeed, NDDs can be attributed to mutations at over 1000 loci, and all type of mutations, ranging from single nucleotide variations (SNVs) to large, complex copy number variations (CNVs), have been reported in patients with ID and other related NDDs. In this study, we recruited seven different recessive NDD families with comorbidities to perform a detailed clinical characterization and a complete genomic analysis that consisted of a combination of high throughput SNP-based genotyping and whole-genome sequencing (WGS).

Homozygous Mutation in TWNK Cases Ataxia, Sensorineural Hearing Loss and Optic Nerve Atrophy.

The TWNK (C10orf2) gene encodes Twinkle, an essential helicase for mtDNA replication. Homozygous mutations in TWNK can lead to mitochondrial DNA depletion syndrome 7 (MTDPS7) that usually manifests as Infantile onset spinocerebellar ataxia (IOSCA). Here, we report a 15-year-old Iranian boy with three main symptoms; ataxia, sensorineural hearing loss and optic nerves atrophy which were accompanied by other symptoms including flexion contracture, dysarthric speech, nystagmus, dystonia and borderline intellectual disability.

Incomplete penetrance of gene for autosomal dominant form of cone-rod dystrophy.

: Cone-rod dystrophy (CRD) is an inherited retinal dystrophy that is transmitted via different modes of inheritance. Mutations in more than 30 genes have been identified to cause the disease. We aimed to investigate the genetic agents of two unrelated cone-rod dystrophy affected Iranian families with autosomal recessive inheritance patterns.

The rs1986112 Variant is Associated with Increased RAB8B Gene Expression in Schizophrenic Patients.

Background: Schizophrenia (SCZ) is a serious mental disorder that interferes with a person's cognitive processes and leads to social disability. A wide range of factors may play important roles in increased risk of SCZ development. Genetic contributors are among the most influential actors involved in different molecular mechanisms leading to the development of the nervous system, thus they play pivotal roles in psychotic disorders and SCZ de-velopment.

Molecular characterization of PRKN structural variations identified through whole-genome sequencing.

Background: Early-onset Parkinson's disease (PD) is the most common inherited form of parkinsonism, with the PRKN gene being the most frequently identified mutated. Exon rearrangements, identified in about 43.2% of the reported PD patients and with higher frequency in specific ethnicities, are the most prevalent PRKN mutations reported to date in PD patients.

Correlation Between Daily Dietary Micronutrients Intake and Mental Health Outcomes in Iranians Living With HIV Infection.

In this study, we evaluated the correlation between daily dietary antioxidant micronutrients intake and mental health outcomes in Iranians living with HIV infection. During an organized interview, daily dietary micronutrients intake of people living with HIV (PLWH; N = 100) was evaluated using a 168-item semi-quantitative food frequency questionnaire. A reliable psychiatric questionnaire was used to assess depression, anxiety, and stress of the patients as mental health outcomes.