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1.
Mod Rheumatol Case Rep ; 7(2): 368-372, 2023 06 19.
Article in English | MEDLINE | ID: mdl-36715083

ABSTRACT

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.


Subject(s)
Arthritis, Reactive , COVID-19 , Male , Humans , Adult , COVID-19/diagnosis , COVID-19/prevention & control , SARS-CoV-2 , Vaccination/adverse effects
2.
Rheumatol Ther ; 10(1): 249-259, 2023 Feb.
Article in English | MEDLINE | ID: mdl-36475037

ABSTRACT

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. All patients were evaluated regarding their initial chest computed tomography (CT) scan, COVID-19 symptoms, and comorbidities. We ran predictive models to find variables associated with chest CT-scan involvement and hospitalization status. Results: CT findings showed lung involvement in 87 patients with chest CT-scan severity score (C-ss) of less than 8 in 59 (33%) and more than 8 in 28 (16%) of our patients. Of all patients, 76 (43%) were hospitalized. Hospitalized patients were significantly older and had more comorbidities (P = 0.02). On multivariate analysis, older age [odds ratio (OR) 1.90, 95% confidence interval (CI) 1.31-3.08] and comorbidity (OR 2.75, 95% CI 1.06-3.66) were significantly associated with higher odds of hospitalization (P = 0.03). On multivariate analysis, older age (OR 1.15, 95% CI 0.94-2.01), pulmonary diseases (OR 2.05, 95% CI 1.18-3.32), and treatment with csDMARDs (OR 1.88, 95% CI 0.37-1.93) were associated with higher C-ss (P = 0.039). Conclusions: This study found that advanced age and comorbidities, similar to the general population, are risk factors for hospitalization in patients with COVID-19 with rheumatic disorders. Administration of csDMARDs, older age, and pulmonary disorders were linked to increased risk of COVID-19 pneumonia in these individuals.

3.
Egypt Heart J ; 74(1): 81, 2022 Nov 25.
Article in English | MEDLINE | ID: mdl-36434413

ABSTRACT

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. Echocardiographic parameters were measured and compared between the two groups. TTE showed significant differences in many echocardiographic parameters. Left ventricular end-diastolic diameter, left ventricular end-systolic diameter, right atrium area, inferior vena cava diameter, and systolic pulmonary artery pressure were significantly higher in patients compared to the controls (P < 0.001). Left ventricular ejection fraction and right ventricular end-diastolic diameter were not statistically different between the groups (P > 0.05). Right ventricular septal strain, right ventricular free wall strain, average longitudinal right ventricular strain, tricuspid annular plane systolic excursion, right ventricular systolic myocardial velocity, and right ventricular fractional area change were lower in inflammatory rheumatic patients (P < 0.001). The subgroup analysis showed the same results' trend for each disease and its own control group comparison. CONCLUSIONS: Cardiac involvement in rheumatologic diseases, especially SLE, RA, and SSc, should always be taken into consideration as there may be silent changes affecting the overall prognosis of patients. Using TTE helps diagnose and make a treatment plan for cardiovascular complications in rheumatic disease patients.

4.
Clin Case Rep ; 10(8): e6168, 2022 Aug.
Article in English | MEDLINE | ID: mdl-35937005

ABSTRACT

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.

5.
Immunol Invest ; 51(5): 1149-1161, 2022 Jul.
Article in English | MEDLINE | ID: mdl-33866949

ABSTRACT

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). We recruited 50 RRMS patients and 50 age- and sex-matched healthy control subjects. PBMCs were isolated from the peripheral blood samples, RNA content was extracted, cDNA was synthesized, and finally expression level of miRNAs was determined using quantitative real-time PCR. Our data indicate significant downregulation of both miR-125a-5p and miR-218-5p in RRMS patients compared to healthy controls (P< .0001). The levels of both miRNAs were significantly downregulated in an age-dependent manner compared with consistent healthy control groups (30-40 years old P< .0001). Expression level of miR-218-5p was significantly changed in only female patients (Female group P< .0001; Male group P= .12). Receiver operating characteristic (ROC) curve data indicated that the expression levels of both miRNAs were able to discriminate RRMS patients from healthy subjects (P< .05). Moreover, bioinformatic enrichment analysis revealed that the target genes of these miRNAs had cardinal roles in the regulation of key biological pathways involved in the clinical course and pathogenesis of MS. Collectively, our results suggested that miR-125a-5p and miR-218-5p play a role in RRMS pathogenesis and have an age- and sex-dependent expression pattern in these patients.


Subject(s)
Leukocytes, Mononuclear , MicroRNAs , Multiple Sclerosis, Relapsing-Remitting , Adult , Age Factors , Biomarkers/blood , Biomarkers/metabolism , Down-Regulation , Female , Gene Expression Profiling , Humans , Leukocytes, Mononuclear/metabolism , Male , MicroRNAs/biosynthesis , MicroRNAs/genetics , Multiple Sclerosis/diagnosis , Multiple Sclerosis/genetics , Multiple Sclerosis/metabolism , Multiple Sclerosis, Relapsing-Remitting/diagnosis , Multiple Sclerosis, Relapsing-Remitting/genetics , Multiple Sclerosis, Relapsing-Remitting/metabolism , Sex Factors
6.
Genes Immun ; 22(7-8): 322-326, 2021 12.
Article in English | MEDLINE | ID: mdl-34782775

ABSTRACT

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. The expression level of MEG3 and NLRC5 was assessed in peripheral blood mononuclear cells. Sub-group analysis demonstrated that the expression level of MEG3 is reduced in the relapse patient group compared to remission and healthy groups (p < 0.001). The expression level of NLRC5 was higher in whole patients compared with healthy controls (p < 0.05). Moreover, a negative correlation was observed between the expression of these two genes (r = -0.73, p < 0.0001). To conclude, our findings showed the dysregulation of MEG3 and NLRC5 expressions in RRMS patients. Also, the converse association of MEG3 and NLRC5 reflects that the role of MEG3 in MS development is probably mediated by modulation of NLRC5.


Subject(s)
Arthritis, Rheumatoid , Multiple Sclerosis, Relapsing-Remitting , Multiple Sclerosis , RNA, Long Noncoding , Humans , Intracellular Signaling Peptides and Proteins/genetics , Leukocytes, Mononuclear , Multiple Sclerosis, Relapsing-Remitting/genetics , RNA, Long Noncoding/genetics
7.
J Neurol ; 268(6): 2065-2082, 2021 Jun.
Article in English | MEDLINE | ID: mdl-31745725

ABSTRACT

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. METHODS AND RESULTS: We retrieved literature on genotype-phenotype associations in patients with HSP and mutated SPAST, REEP1, ATL1, SPG11, SPG15, SPG7, SPG35, SPG54, SPG5. In total, 147 studies with 13,570 HSP patients were included in our meta-analysis. The frequency of mutations in SPAST (25%) was higher than REEP1 (3%), as well as ATL1 (5%) in AD-HSP patients. As for AR-HSP patients, the rates of mutations in SPG11 (18%), SPG15 (7%) and SPG7 (13%) were higher than SPG5 (5%), as well as SPG35 (8%) and SPG54 (7%). The mean age of AD-HSP onset for ATL1 mutation-positive patients was earlier than patients with SPAST, REEP1 mutations. Also, the tendency toward younger age at AR-HSP onset for SPG35 was higher than other mutated genes. It is noteworthy that the mean age at HSP onset ranged from infancy to adulthood. As for the gender distribution, the male proportion in SPG7-HSP (90%) and REEP1-HSP (78%) was markedly high. The frequency of symptoms was varied among patients with different mutated genes. The rates of LL weakness, superficial sensory abnormalities, neuropathy, and deep sensory impairment were noticeably high in REEP1 mutations carriers. Also, in AR-HSP patients with SPG11 mutations, the presentation of symptoms including pes cavus, Neuropathy, and UL spasticity was higher. CONCLUSION: Our comprehensive genotype-phenotype assessment of available data displays that the mean age at disease onset and particular sub-phenotypes are associated with specific mutated genes which might be beneficial for a diagnostic procedure and differentiation of the specific mutated genes phenotype among diverse forms of HSP.


Subject(s)
Spastic Paraplegia, Hereditary , Adult , Genetic Association Studies , Genotype , Humans , Male , Membrane Transport Proteins/genetics , Mutation/genetics , Phenotype , Proteins/genetics , Spastic Paraplegia, Hereditary/genetics , Spastin/genetics
8.
Int Immunopharmacol ; 88: 107024, 2020 Nov.
Article in English | MEDLINE | ID: mdl-33182024

ABSTRACT

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. Recent studies on MS and experimental autoimmune encephalomyelitis (EAE), an animal model of encephalitis, have shown that intestinal microbiota may play a key role in the pathogenesis of MS. Therefore, modification of the intestinal microbiome could be a promising strategy for the future treatment of MS. In this study, the characteristics of intestinal microbiota, the relationship between intestine and brain despite the blood-brain barrier, various factors involved in intestinal microbiota modification, changes in intestinal microbial composition in MS, intestinal microbiome modification strategies, and possible use of intestinal microbiome and factors affecting it have been discussed.


Subject(s)
Bacteria/classification , Gastrointestinal Microbiome/immunology , Multiple Sclerosis/immunology , Animals , Encephalomyelitis, Autoimmune, Experimental/immunology , Humans
9.
J Clin Lab Anal ; 34(8): e23358, 2020 Aug.
Article in English | MEDLINE | ID: mdl-32419160

ABSTRACT

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. In this study, we present the clinical and genetic characteristics of two WFS patients from an Iranian family. METHODS: The mutation screening was performed by polymerase chain reaction (PCR) followed by direct Sanger sequencing of all exons from two affected WFS. RESULTS: The complete Sanger sequencing of the WFS1 gene detected a homozygous missense variant, c.2207G>A (p.Gly736Asp), in the eighth exon of the WFS1 gene. Both cases developed all the major symptoms of the disease, interestingly, except hearing loss. CONCLUSIONS: Because of the rarity and clinical heterogeneity of WFS, the molecular genetic assay is essential to confirm the diagnosis and management of the WFS patients.


Subject(s)
Membrane Proteins/genetics , Mutation, Missense/genetics , Wolfram Syndrome/genetics , Adult , DNA Mutational Analysis , Hearing Loss , Homozygote , Humans , Iran , Male , Membrane Proteins/chemistry , Young Adult
10.
Mol Biol Rep ; 47(5): 4021-4027, 2020 May.
Article in English | MEDLINE | ID: mdl-32281057

ABSTRACT

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. METHODS AND RESULTS: We report the identification of a novel pathogenic variant in the BTD gene, c.528_542del15 (p.Asn197_Ser201del, UniProt P43251-1) in an Iranian consanguineous family with a severe form of the disease. The segregation analysis in the family was consistent with phenotype and the identified variant was predicated as a pathogenic mutation by the in-silico prediction tools. Computer structural modeling suggests the deleted amino acid residues are located near the biotinidase active site and disrupt the special conformations which are critical for the enzyme activity, and also N-glycosylation. CONCLUSIONS: This study further expands the mutation spectrum of the BTD gene underlying cause of profound biotinidase deficiency.


Subject(s)
Biotinidase Deficiency/genetics , Biotinidase/genetics , Adult , Biotinidase/metabolism , Biotinidase Deficiency/diagnosis , Biotinidase Deficiency/metabolism , Child , Family , Female , Homozygote , Humans , Iran , Male , Pedigree , Phenotype , Sequence Deletion/genetics
11.
Gene ; 727: 144228, 2020 Feb 15.
Article in English | MEDLINE | ID: mdl-31669637

ABSTRACT

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. According to the bioinformatics analysis, computational modelling and segregation of variants, we identified two homozygous mutations close together in exon 8 of ALMS1 in the patient, including c.7262 G > T and c.7303-7305delAG. The clinically normal parents were heterozygous for both mutations. These mutations have a very rare frequency and only reported in the heterozygous state in the public genomic databases. Overall, due to the large size of the ALMS1 gene and clinical similarity with other ciliopathies and genetic disorders, whole exome sequencing can be useful for the identification of pathogenic mutations and the improvement of AS clinical management.


Subject(s)
Alstrom Syndrome/genetics , Cell Cycle Proteins/genetics , Adult , Alstrom Syndrome/physiopathology , Cell Cycle Proteins/metabolism , Child , Exons , Family , Female , Hearing Loss, Sensorineural/genetics , Homozygote , Humans , Iran , Male , Mutation , Pedigree , Exome Sequencing/methods
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