Journal of Research in Medical Sciences最新文献

{"title":"Aerobic exercise training for chronic obstructive pulmonary disease: What is the best regimen to increase heart rate variability?","authors":"Mohsen Abedi, Seyed Bashir Mirtajani, Shahryar Rajai Firouzabadi, Reyhaneh Zahiri, Maryam Sadat Mirenayat","doi":"10.4103/jrms.jrms_197_24","DOIUrl":"10.4103/jrms.jrms_197_24","url":null,"abstract":"","PeriodicalId":50062,"journal":{"name":"Journal of Research in Medical Sciences","volume":"30 ","pages":"14"},"PeriodicalIF":1.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11974592/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143812352","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of psychometric properties of Persian version of Body Compassion Scale: Validation with clinical and nonclinical samples.","authors":"Sajad Khanjani, Ali-Akbar Foroughi, Ali Akbar Parvizifard, Mahboobeh Soleymani Moghadam, Moslem Rajabi, Parya Mojtahedzadeh, Jennifer Altman","doi":"10.4103/jrms.jrms_520_23","DOIUrl":"10.4103/jrms.jrms_520_23","url":null,"abstract":"<p><strong>Background: </strong>Body compassion combines the concepts of body image and compassion for oneself. This concept includes the three components of defusion, common humanity, and acceptance. Due to the importance of this concept, this study was conducted to investigate the psychometric properties of the Persian version of the Body Compassion Scale (BCS) in clinical and nonclinical samples.</p><p><strong>Materials and methods: </strong>This research is of correlational type in the field of psychometrics. The statistical population of the clinical sample included patients referred to cosmetic surgery clinics in Tehran in 2019-2020. Accordingly, 379 people were selected using the convenience sampling. They completed the BCS, Body Image Shame Scale, The Levels of Self-Criticism, Appearance Anxiety Inventory, and Body Image Acceptance and Action Questionnaire. The statistical population in the nonclinical sample includes people present in public places (such as public parks and cinemas) and universities in Kermanshah in 2020-2019. Ultimately, 367 people were selected using the convenience sampling method. Participants completed the BCS, External Shame Scale, Self-Compassion Scale, and Body Imaging Psychological Inflexibility Scale. Data were analyzed using LISREL 8.80 and SPSS 24 software.</p><p><strong>Results: </strong>The results showed that the three-factor structure of the BCS in both clinical and nonclinical samples has a good fit. Reliability was appropriate by calculating Cronbach's alpha and the test-retest of scale in clinical and nonclinical samples. Convergent and divergent validity of the scale was also good in both clinical and nonclinical samples.</p><p><strong>Conclusion: </strong>The results showed that the Persian version of the BCS has good psychometric properties in both clinical and nonclinical samples. Therefore, this scale can be a valuable instrument in clinical and research work in the Iranian society.</p>","PeriodicalId":50062,"journal":{"name":"Journal of Research in Medical Sciences","volume":"30 ","pages":"12"},"PeriodicalIF":1.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11974601/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143812761","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Macular vessel density in patients with refractory diabetic macular edema in different stages of nonproliferative diabetic retinopathy.","authors":"Ali Salehi, Mohammad Malekahmadi, Heshmatolah Ghanbari, Mahya Ghazi","doi":"10.4103/jrms.jrms_656_24","DOIUrl":"10.4103/jrms.jrms_656_24","url":null,"abstract":"<p><strong>Background: </strong>Macular vessel density can play a significant role in the prognosis of diabetic macular edema (DME). The aims of this study were to investigate macular vessel density using optical coherence tomography angiography (OCTA) in patients with refractory DME across different stages of nonproliferative diabetic retinopathy (NPDR) and explore its relationship with clinical parameters.</p><p><strong>Material and methods: </strong>This was a cross sectional descriptive analytical study. Diabetic patients diagnosed with NPDR and refractory DME were included. OCTA imaging was performed to quantify vessel densities. Foveal avascular zone (FAZ), central macular thickness (CMT), and best corrected visual acuity (BCVA) were also measured.</p><p><strong>Results: </strong>Eighty nine eyes from 89 patients, including 53 males (59.6%), with a mean age of 60.17 ± 9.95 years were enrolled. The results revealed no significant differences in vessel densities and FAZ between different DR severity groups (P > 0.05). In addition, no significant correlations were observed between vessel density and CMT or most clinical variables, except for a negative correlation between deep capillary plexus (DCP) vessel density in the foveal region and BCVA (r = -0.246, P = 0.019).</p><p><strong>Conclusion: </strong>In patients with refractory DME, foveal DCP density was negatively correlated with visual acuity, suggesting its potential as a biomarker for visual prognosis and follow up of patients.</p>","PeriodicalId":50062,"journal":{"name":"Journal of Research in Medical Sciences","volume":"30 ","pages":"13"},"PeriodicalIF":1.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11974597/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143812764","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Role of phage therapy in acute gastroenteritis.","authors":"Somaieh Sabzali, Setareh Pazhouhnia, Kiana Shahzamani, Peyman Adibi Sedeh","doi":"10.4103/jrms.jrms_464_24","DOIUrl":"10.4103/jrms.jrms_464_24","url":null,"abstract":"<p><p>The gut ecosystem, comprising the gut microbiota and its interactions, plays a crucial role in human health and disease. This complex ecosystem involves a diverse array of microorganisms such as viruses, fungi, and bacteria, collectively known as the gut microbiota. These microorganisms contribute to various functions, including nutrient metabolism and immune modulation, thereby impacting human health. Dysbiosis, or an imbalance in the gut microbiota, has been associated with the pathogenesis of several diseases, ranging from intestinal disorders such as inflammatory bowel disease to extra-intestinal conditions such as metabolic and neurological disorders. The implications of dysbiosis in the gut ecosystem are far-reaching, affecting not only gastrointestinal health but also contributing to the development and progression of conditions such as autoimmune gastritis and gastric cancer. Furthermore, the burden of antimicrobial use and subsequent side effects, including antibiotic resistance, poses additional challenges in managing gastrointestinal diseases. In light of these complexities, investigating the role of bacteriophages as regulators of the gut ecosystem and their potential clinical applications presents a promising opportunity to tackle antibiotic resistance and fight infectious diseases.</p>","PeriodicalId":50062,"journal":{"name":"Journal of Research in Medical Sciences","volume":"30 ","pages":"2"},"PeriodicalIF":1.5,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11974603/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143812770","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enhancing stone expulsion: The efficacy of combined medical therapy with tamsulosin and dexamethasone in renal colic patients.","authors":"Reza Kazemi, Mohammad Shahrashoub, Amir Javid, Narjes Saberi, Pouria Ghasemi, Saina Paymannejad","doi":"10.4103/jrms.jrms_258_24","DOIUrl":"10.4103/jrms.jrms_258_24","url":null,"abstract":"<p><strong>Background: </strong>Ureteral stones are a common aspect of daily urologic practice, affecting 10%-15% of people worldwide over their lifetime. This study aimed to assess the efficacy of combined medical expulsive therapy (MET) with intravenous dexamethasone and oral tamsulosin compared to tamsulosin alone in the frequency and duration of distal ureteral stone expulsion.</p><p><strong>Materials and methods: </strong>This prospective, double-blind, randomized controlled trial with 1:1 balanced randomization was conducted from September 2022 to March 2023 at Al-Zahra Hospital, a tertiary care facility affiliated with Isfahan University of Medical Sciences. Of 213 patients admitted to our center with acute renal colic, 134 had distal ureteral stones and were assessed. Among them, 105 patients were eligible and included in the trial and were randomly assigned into the intervention group (<i>n</i> = 52) and control group (<i>n</i> = 53). Data from four patients in the case group were omitted from the analysis due to the drop-out from the study.</p><p><strong>Results: </strong>Mean initial stone size was 6.5 ± 1.2 mm in the intervention, and 6.3 ± 1.0 mm in the control groups, which was not statistically significant (<i>P</i> = 0.488). Gender was comparable between both groups (<i>P</i> = 0.196), whereas the distribution of BMI (27.2 ± 4.0 vs. 29.8 ± 3.9 kg/m², <i>P</i> = 0.001) and age (41.5 ± 12.9 vs. 47.9 ± 16.2 years, <i>P</i> = 0.031) was not in balance. In total, 43 patients had expelled the stone by the end of the 2 weeks, resulting in an overall expulsion rate of 42.5%. Specifically, 28 (58.3%) patients in the intervention group and 15 (28.3%) patients in the control group had expelled the stone, a difference that was statistically significant (<i>P</i> = 0.002). The time to stone expulsion did not exhibit a significant difference between the intervention and control groups (9.8 vs. 5.4 days, respectively). However, it is noteworthy that the variability in the time to stone expulsion in the tamsulosin + dexamethasone group was considerably smaller than that in the control group, as indicated by the smaller standard deviation in the former (1.0 vs. 3.8 days, respectively).</p><p><strong>Conclusion: </strong>Adding dexamethasone to standard MET with tamsulosin for distal ureterolithiasis appears to increase the stone expulsion rate, although it did not significantly shorten the expulsion time.</p>","PeriodicalId":50062,"journal":{"name":"Journal of Research in Medical Sciences","volume":"30 ","pages":"7"},"PeriodicalIF":1.5,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11974596/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143812670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of miR-146a as a potential biomarker for diagnosis of cardiotoxicity induced by chemotherapy in patients with breast cancer.","authors":"Nasrin Zare, Nasim Dana, Azam Mosayebi, Golnaz Vaseghi, Shaghayegh Haghjooy Javanmard","doi":"10.4103/jrms.jrms_840_22","DOIUrl":"10.4103/jrms.jrms_840_22","url":null,"abstract":"<p><strong>Background: </strong>Cardiotoxicity from chemotherapy may result in cardiomyopathy and heart failure. Clinicians can use the evaluation of cardiotoxicity-specific biomarkers, such as microRNA, as a tool for the early detection of cardiotoxicity. The study's objective was to assess miR-146a levels as a potential biomarker for the detection of cardiotoxicity brought on by chemotherapy in patients with breast cancer.</p><p><strong>Materials and methods: </strong>Using quantitative reverse transcription-polymerase chain reaction, the levels of miR-146a were assessed in the blood of 37 breast cancer patients receiving anthracyclines without cardiotoxicity and 33 breast cancer patients experiencing cardiotoxicity brought on by chemotherapy after chemotherapy. Left ventricular ejection fraction (LVEF) ≥50% was used to define heart failure by echocardiography.</p><p><strong>Results: </strong>MiR-146a did not show any significant difference in expression between these two study groups (P = 0.48, t-test). The expression level of miR-146a was not significantly associated with LVEF, age, and body mass index (P > 0.05), according to Pearson correlation.</p><p><strong>Conclusion: </strong>MiR-146a may be a diagnostic or prognostic biomarker for cardiotoxicity brought on by chemotherapy, even though there was no discernible difference in the expression level of miR-146a between the control group and the breast cancer patients who were experiencing this side effect of chemotherapy. Therefore, miR-146a expression needs to be examined in a sizable cohort of breast cancer patients who are experiencing cardiotoxicity brought on by chemotherapy.</p>","PeriodicalId":50062,"journal":{"name":"Journal of Research in Medical Sciences","volume":"30 ","pages":"4"},"PeriodicalIF":1.5,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11974593/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143812649","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The alarming rise of lifestyle diseases and their impact on public health: A comprehensive overview and strategies for overcoming the epidemic.","authors":"Ram Kumar Garg","doi":"10.4103/jrms.jrms_54_24","DOIUrl":"10.4103/jrms.jrms_54_24","url":null,"abstract":"<p><p>The rising prevalence of lifestyle diseases, including cardiovascular conditions, diabetes, obesity, and mental health disorders, poses a significant threat to global health. The aim of the study is to highlight the impact of sedentary lifestyles, poor diets, and chronic stress on individuals and communities. It advocates for comprehensive strategies involving public health policies, education, and community engagement. Overcoming challenges through lifestyle modifications and policy interventions is crucial. The study also discusses successful global interventions and their application in low-resource settings to combat lifestyle diseases and improve public health. Lifestyle diseases pose a serious global health threat. Urgent action is needed to address sedentary lifestyles, poor diets, and chronic stress. Coordinated efforts through policy, education, and community engagement are crucial. Promoting healthy habits and leveraging global interventions can lead to significant progress. Collaboration among stakeholders is essential for improving global well-being.</p>","PeriodicalId":50062,"journal":{"name":"Journal of Research in Medical Sciences","volume":"30 ","pages":"1"},"PeriodicalIF":1.5,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11974594/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143812774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of cardiac troponin I level with in-hospital and late mortality in dialysis patients.","authors":"Shahram Taheri, Golbarg Ghomi, Alireza Nematollahi, Sayed Mohsen Hosseini","doi":"10.4103/jrms.jrms_658_23","DOIUrl":"10.4103/jrms.jrms_658_23","url":null,"abstract":"<p><strong>Background: </strong>Cardiovascular diseases (CVDs) are highly prevalent among the end-stage renal disease (ESRD) patients. Prognostic value of cardiac troponin I (cTnI) in patients with asymptomatic ESRD is less conclusive. This study was an observational study to evaluate correlation of first admitted cTnI level with early and late (during 6 months) hospitalization and mortality of ESRD patient admitted due to non-acute coronary and non-heart failure causes in ESRD patients.</p><p><strong>Materials and methods: </strong>In this prospective observational study, 460 dialysis patients without overt CVD who were admitted at two university hospital were included and followed during 6 months. Patients' demographic information and laboratory investigations including cTnI level and cause of admission were recorded. The association between cTnI level with in-hospital and late mortality was evaluated.</p><p><strong>Results: </strong>cTnI level was higher in female (35.9%), hemodialysis patients (28.1%), and patients with permanent catheter vascular access (29.4%). There were significant differences in level of triglyceride (TG), low-density lipoprotein (LDL) cholesterol, and high-density lipoprotein (HDL) cholesterol between patients with normal and abnormal cTnI levels (<i>P</i> < 0.05). Patients with abnormal cTnI levels had higher level of TG and LDL cholesterol and lower level of HDL cholesterol. cTnI levels were associated with higher in-hospital and 6-month follow-up mortality rate. In logistic regression analysis, only female gender (odds ratio [OR] =1.89, confidence interval [CI] =1.22-3.076) and TG (OR = 1.007, CI = 1.003-1.01) were positively and HDL cholesterol level (OR = 0.994, CI = 0.98-0.99) was negatively associated with increased cTnI level. cTnI level was associated with early (OR = 4.81, CI = 1.64-14.89) and late (OR = 4.31, CI = 1.61-10.96) mortality.</p><p><strong>Conclusion: </strong>Although in this study, cTnI level is not directly associated with cardiovascular disorders and admission and readmission causes, it is a strong predictor of early and late mortality.</p>","PeriodicalId":50062,"journal":{"name":"Journal of Research in Medical Sciences","volume":"30 ","pages":"8"},"PeriodicalIF":1.5,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11974595/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143812364","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of the impact of intermittent fasting diet alone or in conjunction with probiotic supplementation versus calorie-restricted diet on inflammatory, oxidative stress, and antioxidant capacity biomarkers in women with polycystic ovary syndrome: A randomized placebo-controlled trial.","authors":"Sepide Talebi, Sakineh Shab-Bidar, Gholamreza Askari, Hamed Mohammadi, Ashraf Moini, Kurosh Djafarian","doi":"10.4103/jrms.jrms_280_24","DOIUrl":"10.4103/jrms.jrms_280_24","url":null,"abstract":"<p><strong>Background: </strong>The objective of this study was to compare the effects of early time-restricted eating (eTRE) and eTRE plus probiotic supplementation to daily caloric restriction (DCR) alone in terms of biomarkers of oxidative stress (OS), antioxidant capacity, inflammation, and blood pressure (BP) in obese women with polycystic ovary syndrome (PCOS).</p><p><strong>Materials and methods: </strong>The research was conducted as a randomized, parallel, placebo-controlled clinical trial with an 8-week follow-up period. Participants were randomly assigned to one of three groups: 14:10 eTRE with probiotic supplementation (<i>n</i> = 30), 14:10 eTRE with placebo supplementation (<i>n</i> = 30), or DCR with placebo supplementation (<i>n</i> = 30). At the beginning and 8 weeks of the intervention, systolic blood pressure (SBP) and diastolic BP, inflammation, and OS parameters were evaluated.</p><p><strong>Results: </strong>A total of 90 participants (mean age, 30.49 years and mean weight, 81.45 kg) were enrolled in this trial. After 8-week intervention, we observed SBP significantly decreased in both the eTRE + probiotic group (-0.31 mmHg [95% confidence interval (CI): -0.55, -0.07]) and the eTRE + placebo group (-0.24 mmHg [95% CI: -0.43, 0.04]), with no significant differences observed between groups. Moreover, C-reactive protein (CRP) levels were significantly reduced in all groups (<i>P</i> < 0.005). Total antioxidant capacity (TAC) also showed notable improvement in both the eTRE + probiotic group (<i>P</i> = 0.012) and the DCR group (<i>P</i> = 0.032). However, there were no significant differences between the three groups regarding BP, OS, TAC, and CRP markers.</p><p><strong>Conclusion: </strong>It was not found that eTRE alone or eTRE with probiotics intervention resulted in improving BP, inflammatory, OS, and antioxidant capacity biomarkers than a standard DCR diet among obese women with PCOS. The present study did not reveal significant improvements in BP, inflammatory markers, OS, or antioxidant capacity with either eTRE alone or eTRE combined with probiotics compared to a standard DCR among obese women diagnosed with PCOS.Trial Register no: IRCT20121110011421N5.</p>","PeriodicalId":50062,"journal":{"name":"Journal of Research in Medical Sciences","volume":"30 ","pages":"5"},"PeriodicalIF":1.5,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11974602/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143812295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of common COL2A1 gene variants in Iranian patients suspected with Stickler syndrome type I.","authors":"Fatemeh Abolhasani, Hossein Abdali, Mohammad Kazemi, Bijan Movahedian Attar, Fatemeh Derakhshandeh, Majid Hosseinzadeh","doi":"10.4103/jrms.jrms_447_24","DOIUrl":"10.4103/jrms.jrms_447_24","url":null,"abstract":"<p><strong>Background: </strong>Stickler syndrome, also known as hereditary progressive arthro-ophthalmopathy, is a connective tissue disorder that arises from mutations in multiple genes, each with distinct hereditary patterns. Stickler syndrome type I, which is inherited in an autosomal dominant manner, is specifically linked to mutations in the <i>COL2A1</i> gene. The objective of this study is to investigate the prevalence of common variants of the <i>COL2A1</i> gene among individuals suspected of having Stickler syndrome type I.</p><p><strong>Materials and methods: </strong>Twenty-six Iranian patients suspected of having Stickler syndrome type I referring to Al-Zahra Hospital of Isfahan were employed in this cross-sectional study. The DNA was extracted from the patient's peripheral blood samples, and the selected exons of the <i>COL2A1</i> gene were amplified by polymerase chain reaction. Subsequently, the purified amplicons were subjected to Sanger sequencing to identify common variants associated with Stickler syndrome type I.</p><p><strong>Results: </strong>All patients exhibit cleft abnormalities (palate, lip, and alveolar), 84.6% of patients exhibit ocular abnormalities, 53.8% of patients exhibit hearing abnormalities, and 34.6% of patients exhibit skeletal abnormalities. As the data displays, the highest phenotype presentation prevalence rate was related to cleft lip and palate, while hemiparesis was the lowest clinical finding among the patients. Molecular analysis which conducted to screen the <i>COL2A1</i> gene of patients, identified two different variants, including a novel nonsense variant, (c.1030C>T), consistent with dominantly inherited Stickler syndrome type I, also synonymous mutation (c.213C>T) affecting in exon 2, which have been reported in database.</p><p><strong>Conclusion: </strong>Genetic analysis of Twenty-six unrelated families with Stickler syndrome type I disorder discovered one novel pathogenic variant in the <i>COL2A1</i> gene in a patient with Stickler syndrome type I. Genetic analysis is helpful for the diagnosis of this clinically variable and genetically heterogeneous disorder.</p>","PeriodicalId":50062,"journal":{"name":"Journal of Research in Medical Sciences","volume":"30 ","pages":"6"},"PeriodicalIF":1.5,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11974600/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143812615","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}