Reactive arthritis after Gam-COVID-Vac vaccination: A case report.

Although the safety and efficacy of vaccinations have been evaluated through clinical trials, medical experts and authorities are very interested in the reporting and investigation of adverse events following severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) immunisation in the general public. This article reports about a 41-year-old man without a history of underlying diseases, complaining of continuous morning stiffness and acute discomfort in his left elbow joint, 20 days after taking the first dosage of Sputnik V. The case was extensively studied, and a possible diagnosis of reactive arthritis was made.

COVID-19 in Patients with Rheumatic Disease Using Immunomodulatory Drugs: Imaging Findings and Predictors of Hospitalization.

Introduction: SARS-CoV-2 causes more severe symptoms in most chronic diseases, and rheumatic disease is no exception. This study aims to investigate whether there is an association between the use of immunomodulatory medications, including conventional disease-modifying agents (csDMARDs), glucocorticoids, and biologic DMARDs, and outcomes such as hospitalization and lung involvement in patients with rheumatic disease with COVID-19.

Methods: We performed a cross-sectional study on 177 COVID-19 cases with rheumatologic diseases using immunomodulatory drugs as their regular treatment.

Ventricular and atrial function assessment with transthoracic echocardiography in patients with rheumatic inflammatory disease.

Background: Inflammatory rheumatic diseases, including systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and systemic sclerosis (SSc), can cause cardiovascular complications in many cases. This study aimed to compare the ventricular and atrial functions of the heart between rheumatic patients and healthy controls using transthoracic echocardiography (TTE).

Results: The study was performed between 64 patients with mentioned rheumatic diseases and 64 age- and sex-matched healthy controls who all underwent detailed history-taking and TTE.

Sarcoidosis with multiple organ involvement and uncommon symptoms: A case report.

Sarcoidosis is a complicated inflammatory disease characterized by the formation of non-caseating epithelioid granulomas in many organs. Herein, we reported a sarcoidosis case with multiple organ involvements and our diagnostic criteria and treatment plan.

Dysregulation of long noncoding RNA MEG3 and NLRC5 expressions in patients with relapsing-remitting multiple sclerosis: is there any correlation?

Long noncoding RNA MEG3 and NLRC5 genes are both involved in the immune system and the regulation of NLRC5 by MEG3 is documented in rheumatoid arthritis. Therefore, we intended to evaluate the association between the expressions of MEG3 and NLRC5 in multiple sclerosis (MS). Forty relapsing and remitting MS (RRMS) patients (20 in each group) and twenty healthy individuals were enrolled.

Downregulation of miR-125a-5p and miR-218-5p in Peripheral Blood Mononuclear Cells of Patients with Relapsing-Remitting Multiple Sclerosis.

Multiple sclerosis (MS) is a chronic neuroinflammatory disease of the brain and spinal cord. Evidences have demonstrated that microRNAs (miRNAs) are involved in the pathological process of MS that may confer a valuable diagnostic biomarker for disease diagnosis, prognosis, and treatment. Hence, we assessed the expression pattern of miR-125a-5p and miR-218-5p in the peripheral blood mononuclear cells (PBMCs) of subjects with relapsing-remitting multiple sclerosis (RRMS).

Gut microbiome and multiple sclerosis: New insights and perspective.

The human gastrointestinal microbiota, also known as the gut microbiota living in the human gastrointestinal tract, has been shown to have a significant impact on several human disorders including rheumatoid arthritis, diabetes, obesity, and multiple sclerosis (MS). MS is an inflammatory disease characterized by the destruction of the spinal cord and nerve cells in the brain due to an attack of immune cells, causing a wide range of harmful symptoms related to inflammation in the central nervous system (CNS). Despite extensive studies on MS that have shown that many external and genetic factors are involved in its pathogenesis, the exact role of external factors in the pathophysiology of MS is still unclear.

A homozygous missense mutation of WFS1 gene causes Wolfram's syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity).

Background: Wolfram's syndrome (WFS) is a hereditary (autosomal recessive) neurodegenerative disorder. The clinical features are related to diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) with other variable clinical manifestations. Pathogenic variants in the WFS1 gene, encoding wolframin, are known to be the main cause of Wolfram's syndrome.

The novel homozygous p.Asn197_Ser201del mutation in BTD gene is associated with profound biotinidase deficiency in an Iranian consanguineous family.

Background: Biotinidase deficiency is an autosomal recessive inherited inborn error of biotin metabolism. Biotin as a water-soluble vitamin is the prosthetic group of biotin-dependent carboxylase enzymes, and by enhancing their function plays a key role in amino acid catabolism, fatty acid synthesis, and gluconeogenesis. Beyond its prosthetic group role, it has been recognized that biotin regulates the level of gene transcription in the eukaryotic cells, therefore any defect in these pathways causes a multisystem metabolic disorder characterized by neurological and cutaneous symptoms.

Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.

Aims: The hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited neurodegenerative disorders. Although, several genotype-phenotype studies have carried out on HSPs, the association between genotypes and clinical phenotypes remain incomplete since most studies are small in size or restricted to a few genes. Accordingly, this study provides the systematic meta-analysis of genotype-phenotype associations in HSP.

Whole exome sequencing identified two homozygous ALMS1 mutations in an Iranian family with Alström syndrome.

Alström syndrome (AS) is a rare monogenic multi-system ciliopathy disorder with cardinal features, including cone-rod dystrophy, sensory neural hearing loss, metabolic dysfunctions and multiple organ failure caused by bi-allelic mutations in a centrosomal basal body protein-coding gene known as ALMS1. This study aimed to identify pathogenic mutations in a consanguineous Iranian family with AS. Next-generation sequencing was performed on the genomic DNA obtained from a 12 years old girl with AS.