Repository of Research and Investigative Information Isfahan University of Medical Sciences
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Reliability and validity of the unhelpful thoughts and beliefs scale for Persian-speaking adults who stutter (UTBAS-P): A cross-cultural examination of social anxiety in people who stutter
No full textBackground and Aim: An increasing body of research indicates that many adults who stutter (AWS) experience anxiety in social and verbal situations. The Unhelpful Thoughts and Beliefs about Stuttering (UTBAS) scales were developed to assess speech-related anxiety and negative cognitions associated with stuttering. This study aimed to translate the UTBAS into Persian, investigate its psychometric properties for Persian-speaking AWS, and compare the results with previously published UTBAS scores across various cultures. Method: The UTBAS scales were translated into Persian according to the protocols of the International Quality of Life Assessment Project and the World Health Organization. Sixty-two adults with developmental stuttering, aged between 18 and 51 years, participated in this study. The psychometric properties of UTBAS-P were investigated using similar measures to those used in previous studies where valid and reliable versions were available. Additionally, UTBAS-P scores were compared to UTBAS scores previously reported for Australian, Japanese, and Turkish participants. Results: The results showed that UTBAS-P had an acceptable face, content, and construct validity. It was significantly correlated with other anxiety-related measures. Additionally, its low and negative correlations with unrelated constructs, such as the NEO-PI-R domains of openness, agreeableness, and conscientiousness, confirmed its divergent validity. Regarding reliability, the significant test-retest reliability score (Pearson r = 0.87, p < 0.001) confirmed the stability of UTBAS-P scores over time, and its internal consistency was confirmed by Cronbach's alpha of 0.99. Similarities and differences were found between participants' UTBAS scores across different cultures. Conclusion: All four currently translated versions of the UTBAS have demonstrated high levels of validity and reliability, showing strong correlations with well-known anxiety measures. These findings suggest that the UTBAS has potential for use both clinically and in cross-cultural studies
Dietary glycaemic index and insulin index in association with incident type 2 diabetes mellitus in adults
No full textThere is a lack of information from Middle Eastern countries regarding diet-disease associations. We examined dietary glycaemic and insulinemic potential in relation to risk of incident diabetes among a large group of Iranian adults. The present study was carried out using data from Yazd Health Study-Taghzieh Mardom Yazd, a prospective cohort study on adults aged 20-70 years in Yazd Greater Area, Iran. This study was initiated in 2014-2016 (baseline examination), and data are collected prospectively at one 5-year intervals. Data on demographic characteristics, dietary intakes and potential confounders were gathered by interview. During the follow-up phase of the study, diabetes incidence was confirmed by laboratory tests and physician diagnoses. This study included a total of 6178 participants in the cross-sectional analysis and 5105 subjects in the prospective phase. Examining the cross-sectional phase, we failed to find any significant association between dietary glycaemic index (GI) and glycaemic load (GL) as well as dietary insulin index (DII) or dietary insulin load (DIL) and prevalence of diabetes. No significant relationship was also seen between DII/DIL and risk of T2DM in the prospective phase; however, in the stratified analysis by BMI status, there was an inverse significant association between DII and risk of type 2 diabetes mellitus (hazard ratio for T3 v. T1: 019; 95 CI: 004, 092; P = 003) in non-obese (BMI >= 25 kg/m(2)) and overweight (BMI < 25 kg/m(2)) participants. No significant association was found between dietary GI/ dietary GL/ DII/ or DIL with risk of T2DM. More research, particularly with a longer follow-up duration, is needed to confirm these findings
Significant association of functional variants in the promoter sequence of IL18 with disease susceptibility and systemic lupus erythematosus clinical parameters
No full textObjective: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with a complex etiology. Interleukin-18 (IL-18) possesses pro-inflammatory properties and plays a central role in the development of SLE. In this study, we assessed the association between two functional variants that affect the expression of IL-18, namely -607C > A (rs1946518) and -137G > C (rs187238), and the risk of SLE development. Methods: As a case-control study, 251 peripheral blood samples were collected from 121 SLE patients and 130 healthy participants. Genotyping of these polymorphisms was performed using the high-resolution melting (HRM) method, which employs real-time polymerase chain reaction. Results: Our findings revealed a significant association between the AA genotype and A allele in rs1946518, showing a decreased risk of SLE (AA vs CC; OR: 0.386; 95 CI 0.174-0.828, A vs C; OR: 0.548; 95% CI 0.369-0.809). Analogously, the CC genotype and C allele in rs187238 exhibited a similar trend (CC vs GG; OR: 0.240; 95% CI 0.055-0.803, C vs G; OR: 0.604; 95% CI 0.390-0.928), indicating a reduced risk of SLE Moreover, SLE subjects with the protective allele in rs1946518 (AA + AC) demonstrated significantly lower levels of CRP, and Anti-dsDNA, suggesting lower disease activity. These patients also had a later age of onset, and a lower incidence of renal involvement and creatinine levels, indicating milder disease severity (p < .05). Conclusion: The study indicates a significant relationship between the rs1946518 and rs187238 variants in IL-18 and a reduced risk of SLE. Furthermore, rs1946518 was found to be associated with certain clinical features related to disease activity and severity
Single cell RNA sequencing improves the next generation of approaches to AML treatment: challenges and perspectives
No full textAcute myeloid leukemia (AML) is caused by altered maturation and differentiation of myeloid blasts, as well as transcriptional/epigenetic alterations, all leading to excessive proliferation of malignant blood cells in the bone marrow. Tumor heterogeneity due to the acquisition of new somatic alterations leads to a high rate of resistance to current therapies or reduces the efficacy of hematopoietic stem cell transplantation (HSCT), thus increasing the risk of relapse and mortality. Single-cell RNA sequencing (scRNA-seq) will enable the classification of AML and guide treatment approaches by profiling patients with different facets of the same disease, stratifying risk, and identifying new potential therapeutic targets at the time of diagnosis or after treatment. ScRNA-seq allows the identification of quiescent stem-like cells, and leukemia stem cells responsible for resistance to therapeutic approaches and relapse after treatment. This method also introduces the factors and mechanisms that enhance the efficacy of the HSCT process. Generated data of the transcriptional profile of the AML could even allow the development of cancer vaccines and CAR T-cell therapies while saving valuable time and alleviating dangerous side effects of chemotherapy and HSCT in vivo. However, scRNA-seq applications face various challenges such as a large amount of data for high-dimensional analysis, technical noise, batch effects, and finding small biological patterns, which could be improved in combination with artificial intelligence models
The application of artificial intelligence in the field of mental health: a systematic review
No full textIntroductionThe integration of artificial intelligence in mental health care represents a transformative shift in the identification, treatment, and management of mental disorders. This systematic review explores the diverse applications of artificial intelligence, emphasizing both its benefits and associated challenges.MethodsA comprehensive literature search was conducted across multiple databases based on Preferred Reporting Items for Systematic Reviews and Meta-Analyses, including ProQuest, PubMed, Scopus, and Persian databases, resulting in 2,638 initial records. After removing duplicates and applying strict selection criteria, 15 articles were included for analysis.ResultsThe findings indicate that AI enhances early detection and intervention for mental health conditions. Various studies highlighted the effectiveness of AI-driven tools, such as chatbots and predictive modeling, in improving patient engagement and tailoring interventions. Notably, tools like the Wysa app demonstrated significant improvements in user-reported mental health symptoms. However, ethical considerations regarding data privacy and algorithm transparency emerged as critical challenges.DiscussionWhile the reviewed studies indicate a generally positive trend in AI applications, some methodologies exhibited moderate quality, suggesting room for improvement. Involving stakeholders in the creation of AI technologies is essential for building trust and tackling ethical issues. Future studies should aim to enhance AI methods and investigate their applicability across various populations.ConclusionThis review underscores the potential of AI to revolutionize mental health care through enhanced accessibility and personalized interventions. However, careful consideration of ethical implications and methodological rigor is essential to ensure the responsible deployment of AI technologies in this sensitive field
Interplay between LncRNAs and autophagy-related pathways in leukemia: mechanisms and clinical implications
No full textAutophagy is a conserved catabolic process that removes protein clumps and defective organelles, thereby promoting cell equilibrium. Growing data suggest that dysregulation of the autophagic pathway is linked to several cancer hallmarks. Long non-coding RNAs (lncRNAs), which are key parts of gene transcription, are increasingly recognized for their significant roles in various biological processes. Recent studies have uncovered a strong connection between the mutational landscape and altered expression of lncRNAs in the tumor formation and development, including leukemia. Research over the past few years has emphasized the role of lncRNAs as important regulators of autophagy-related gene expression. These RNAs can influence key leukemia characteristics, such as apoptosis, proliferation, epithelial-mesenchymal transition (EMT), migration, and angiogenesis, by modulating autophagy-associated signaling pathways. With altered lncRNA expression observed in leukemia cells and tissues, they hold promise as diagnostic biomarkers and therapeutic targets. The current review focuses on the regulatory function of lncRNAs in autophagy and their involvement in leukemia, potentially uncovering valuable therapeutic targets for leukemia treatment
Triglyceride-glucose index as a marker in cardiovascular diseases; a bibliometric study and visual analysis
No full textObjective:This study aims to conduct a bibliometric analysis of the triglyceride-glucose (TyG) index in relation to cardiovascular disorders.Methods:Data for the analysis were extracted from the Web of Science Core Collection database on 13 July 2024. We utilized VOSviewer, CiteSpace, and Biblioshiny tools for the analysis.Results:The study revealed a marked increase in research outputs on the TyG index in recent years, peaking with 137 publications in 2023. China emerged as the leading contributor, followed by the USA. The Chinese Academy of Medical Sciences and Peking Union Medical College were among the top contributing institutions. Shouling Wu and Shuohua Chen emerged as the leading authors, with the journal Cardiovascular Diabetology publishing the most articles on this topic. Keyword analysis identified "insulin-resistance" as the most frequently occurring term, followed by "risk." Cluster analysis identified eleven key research areas, including "percutaneous coronary intervention," "obesity indicators," "arterial stiffness," and "heart failure."Conclusion:This bibliometric analysis highlights the expanding role of the TyG index in metabolic and cardiovascular research. Key clusters such as percutaneous coronary intervention, obesity indicators, arterial stiffness, heart failure, new-onset hypertension, predicting outcomes, and subclinical coronary artery disease emphasize its wide applicability across diverse clinical settings. The keyword "risk" was the most frequently occurring term, underscoring the importance of the TyG index in cardiovascular risk assessment, alongside its growing use in prognostic applications. These findings reflect the increasing recognition of the TyG index as a pivotal biomarker in cardiovascular medicine and encourage further exploration of its clinical integration
Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation
No full textBackground SLC29A3-related syndromes (SLC29A3-RS) are characterised by severe and multiorgan involvement that has a severe impact on the quality of life of the affected persons and therefore merit further genetic and clinical research. We investigated the clinical and genetic aspects of patients with SLC29A3-RS.Methods Six pathogenic variants of the SLC29A3 gene were identified in eight families in the current study. RNA sequencing was used for evaluating SLC29A3 variant gene expression and protein stability by molecular dynamics (MD) simulations. This study conducted a Preferred Reporting Items for Systematic Reviews and Meta-Analyses-compliant systematic review of cases across five electronic databases.Results Genetic analysis revealed six pathogenic variants of the SLC29A3 gene in eight families; one variant was shared among three families, indicating a possible founder effect. The estimated most recent common ancestor for these patients lived approximately 8.5 generations ago. MD studies revealed structural instability in mutant proteins. RNA sequencing also demonstrated that the expression of SLC29A3 was downregulated while the expression of the immune markers CD68 and LYZ was upregulated. A systematic search of 197 patients of different ethnic backgrounds revealed that the following symptoms were frequent findings: hyperpigmentation, hypertrichosis, hearing loss, short stature and hepatomegaly. The age of onset of SLC29A3-RS was 5.53 +/- 5.24 years with an IQR of 1.4-8.25 years.Conclusions The characterisation of the founder variants and the genotype-phenotype correlations helps delineate the phenotype spectrum of SLC29A3-RS, which will facilitate the genetic counselling and screening of the high-risk population. Findings on SLC29A3 variants show the way to proceed in the process of developing the diagnostic and therapeutic methods in the management of SLC29A3-RS
Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP
No full textJagunal-homolog1 (JAGN1) is an endoplasmic reticulum-resident protein, which is part of the early secretory pathway and granulocyte colony-stimulating factor (CSF; G-CSF) receptor-mediated signaling. Autosomal recessively inherited variants in JAGN1 lead to congenital neutropenia, early-onset bacterial infections, aphthosis, and skin abscesses due to aberrant differentiation and maturation of neutrophils. Bone metabolism disorders and syndromic phenotype, including facial features, short stature, and neurodevelopmental delay, have been reported. Allogeneic hematopoietic stem cell transplantation (alloHSCT) is a treatment option for patients who respond poorly to therapy with G-CSF and those who suffer from complicated infections. In a retrospective multicenter study, data from 32 patients with JAGN1 deficiency were collected to describe the disease, perform phenotypegenotype analysis, and evaluate treatment modalities. Patients presented with 9 homozygous mutations in JAGN1. All patients experienced infectious complications. Twelve patients presented with short stature and facial features. Neurodevelopmental delay was observed in 4 patients from 3 families. Variant c.3G>A p.Met1, found in 9 patients, was never connected to extramedullary symptoms, except for short stature in 1 patient. Patients with the variants c.63G>T, p.Glu21Asp and c130c>T p.His44 Tyr presented more often with syndromic facial features and bone metabolism disorders. Six patients underwent allogeneic stem cell transplantation due to therapy-refractory neutropenia and severe infections, 1 received the graft because of myelodysplastic syndrome and secondary acute myeloid leukemia. Two patients had to undergo a second transplantation because of autologous reconstitution. One patient who did not undergo transplantation died at age 5 years due to pancolitis and septicemia. All 31 other patients were alive and healthy at the last follow-up
Dietary Total Antioxidant Capacity Can Modify the Effects of Apo-B Polymorphisms (Ins/Del and EcoRI) on Lipid Profiles and Atherogenic Indices Between Diabetic Patients
No full textWe aimed to study the role of Apolipoprotein B (Apo-B) polymorphisms (Ins/Del and EcoRI) and genotype interaction on lipid profiles and atherogenic indices in response to changes in dietary total antioxidant capacity (DTAC) of diet. This cross-sectional study consisted of 700 diabetic patients. Biochemical markers including total cholesterol (TC), low-density lipoprotein (LDL), high-density lipoprotein (HDL), triglyceride (TG), superoxide dismutase (SOD), C-reactive protein (CRP), total antioxidant capacity (TAC), interlukin-18 (IL-18), and Prostaglandin F2alpha (PGF2alpha) were measured based on standard protocols. Genotyping of the Apo-B polymorphisms was conducted by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Subjects with Ins/Ins genotype with higher DTAC intake had lower TG, AIP, and AC compared to Del-allele carriers. Moreover, A-allele carriers (EcoRI) with a higher median intake of DTAC had lower body mass index (BMI) and waist circumference (WC) compared to GG homozygotes. For combined genotypes, the EcoRI only variant (Ins/Ins and AA + AG) with higher DTAC intake had lower BMI and WC. Moreover, Ins/Del only variant (Ins/del + del/del and GG) with more adherence to DTAC had higher TG and AIP. Our study showed that Apo-B polymorphisms interact with the antioxidant capacity of diet to ameliorate the risk of cardio-metabolic diseases, especially atherosclerosis in the A carriers of EcoR1 and Ins/Ins homozygous of Ins/Del polymorphism