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Macular vessel density in patients with refractory diabetic macular edema in different stages of nonproliferative diabetic retinopathy. 非增殖性糖尿病视网膜病变不同阶段难治性糖尿病黄斑水肿患者的黄斑血管密度。
IF 1.5 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-02-28 eCollection Date: 2025-01-01 DOI: 10.4103/jrms.jrms_656_24
Ali Salehi, Mohammad Malekahmadi, Heshmatolah Ghanbari, Mahya Ghazi

Background: 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.

Material and methods: 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.

Results: 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).

Conclusion: 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.

背景:黄斑血管密度在糖尿病黄斑水肿(DME)的预后中起着重要作用。本研究的目的是利用光学相干断层血管成像(OCTA)技术研究非增生性糖尿病视网膜病变(NPDR)不同阶段难治性DME患者的黄斑血管密度,并探讨其与临床参数的关系:这是一项横断面描述性分析研究。研究对象包括确诊为非增殖性糖尿病视网膜病变和难治性 DME 的糖尿病患者。进行OCTA成像以量化血管密度。此外,还测量了眼窝无血管区(FAZ)、黄斑中心厚度(CMT)和最佳矫正视力(BCVA):共有 89 名患者的 89 只眼睛参加了研究,其中包括 53 名男性(59.6%),平均年龄为 60.17 ± 9.95 岁。结果显示,不同 DR 严重程度组之间的血管密度和 FAZ 无明显差异(P > 0.05)。此外,除了眼窝区深部毛细血管丛(DCP)血管密度与 BCVA 之间存在负相关(r = -0.246,P = 0.019)外,血管密度与 CMT 或大多数临床变量之间均未发现明显相关性:结论:在难治性DME患者中,眼窝深毛细血管丛密度与视力呈负相关,这表明深毛细血管丛密度有可能成为视觉预后和患者随访的生物标志物。
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引用次数: 0
Role of phage therapy in acute gastroenteritis. 噬菌体治疗在急性胃肠炎中的作用。
IF 1.5 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-30 eCollection Date: 2025-01-01 DOI: 10.4103/jrms.jrms_464_24
Somaieh Sabzali, Setareh Pazhouhnia, Kiana Shahzamani, Peyman Adibi Sedeh

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.

肠道生态系统包括肠道微生物群及其相互作用,在人类健康和疾病中发挥着至关重要的作用。这一复杂的生态系统涉及病毒、真菌和细菌等多种微生物,统称为肠道微生物群。这些微生物具有多种功能,包括营养代谢和免疫调节,从而影响人体健康。菌群失调或肠道微生物群失衡与多种疾病的发病机制有关,从炎症性肠病等肠道疾病到代谢和神经系统疾病等肠道外疾病。肠道生态系统中的菌群失调影响深远,不仅会影响胃肠道健康,还会导致自身免疫性胃炎和胃癌等疾病的发生和发展。此外,抗菌药的使用和随之而来的副作用(包括抗生素耐药性)给胃肠道疾病的管理带来了更多挑战。鉴于这些复杂性,研究噬菌体作为肠道生态系统调节剂的作用及其潜在的临床应用,为解决抗生素耐药性和抗击传染性疾病提供了一个大有可为的机会。
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引用次数: 0
Enhancing stone expulsion: The efficacy of combined medical therapy with tamsulosin and dexamethasone in renal colic patients. 促进结石排出:坦索罗辛、地塞米松联合用药治疗肾绞痛的疗效观察。
IF 1.5 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-30 eCollection Date: 2025-01-01 DOI: 10.4103/jrms.jrms_258_24
Reza Kazemi, Mohammad Shahrashoub, Amir Javid, Narjes Saberi, Pouria Ghasemi, Saina Paymannejad

Background: 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.

Materials and methods: 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 (n = 52) and control group (n = 53). Data from four patients in the case group were omitted from the analysis due to the drop-out from the study.

Results: 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 (P = 0.488). Gender was comparable between both groups (P = 0.196), whereas the distribution of BMI (27.2 ± 4.0 vs. 29.8 ± 3.9 kg/m2, P = 0.001) and age (41.5 ± 12.9 vs. 47.9 ± 16.2 years, P = 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 (P = 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).

Conclusion: 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.

背景:输尿管结石是日常泌尿外科实践的一个常见方面,影响全球10%-15%的人一生。本研究旨在评估药物排出治疗(MET)联合静脉地塞米松和口服坦索罗辛与单独坦索罗辛在输尿管远端结石排出频率和持续时间方面的疗效。材料和方法:这项前瞻性、双盲、1:1平衡随机对照试验于2022年9月至2023年3月在Al-Zahra医院进行,该医院是伊斯法罕医科大学附属的三级医疗机构。在我们中心收治的213例急性肾绞痛患者中,134例有输尿管远端结石,并进行了评估。其中105例患者符合纳入试验条件,随机分为干预组(n = 52)和对照组(n = 53)。病例组中4例患者的数据因退出研究而被省略。结果:干预组患者平均初始结石大小为6.5±1.2 mm,对照组为6.3±1.0 mm,差异无统计学意义(P = 0.488)。两组间性别差异具有可比性(P = 0.196),而BMI(27.2±4.0∶29.8±3.9 kg/m2, P = 0.001)和年龄(41.5±12.9∶47.9±16.2岁,P = 0.031)分布不平衡。在2周结束时,总共有43名患者排出了结石,总体排出率为42.5%。其中,干预组28例(58.3%)患者排出结石,对照组15例(28.3%)患者排出结石,差异有统计学意义(P = 0.002)。排出结石的时间在干预组和对照组之间没有显着差异(分别为9.8天和5.4天)。然而,值得注意的是,坦索罗辛+地塞米松组排出结石所需时间的变异性明显小于对照组,前者的标准偏差较小(分别为1.0天和3.8天)。结论:输尿管远端结石患者在标准MET基础上加用地塞米松加坦索罗辛可增加结石排出率,但未明显缩短排出时间。
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引用次数: 0
Evaluation of miR-146a as a potential biomarker for diagnosis of cardiotoxicity induced by chemotherapy in patients with breast cancer. 评价miR-146a作为乳腺癌患者化疗引起的心脏毒性诊断的潜在生物标志物
IF 1.5 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-30 eCollection Date: 2025-01-01 DOI: 10.4103/jrms.jrms_840_22
Nasrin Zare, Nasim Dana, Azam Mosayebi, Golnaz Vaseghi, Shaghayegh Haghjooy Javanmard

Background: 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.

Materials and methods: 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.

Results: 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.

Conclusion: 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.

背景:化疗引起的心脏毒性可能导致心肌病和心力衰竭:化疗引起的心脏毒性可能导致心肌病和心力衰竭。临床医生可以利用评估心脏毒性特异性生物标志物(如 microRNA)作为早期检测心脏毒性的工具。本研究的目的是评估 miR-146a 的水平,作为检测乳腺癌患者化疗引起的心脏毒性的潜在生物标志物:采用定量反转录聚合酶链反应,评估了37名接受蒽环类药物治疗但未出现心脏毒性的乳腺癌患者和33名化疗后出现心脏毒性的乳腺癌患者血液中的miR-146a水平。通过超声心动图确定左心室射血分数(LVEF)≥50%为心力衰竭:MiR-146a在两组研究中的表达量无明显差异(P = 0.48,t检验)。根据皮尔逊相关性,miR-146a的表达水平与LVEF、年龄和体重指数无明显相关性(P > 0.05):结论:尽管对照组与出现化疗副作用的乳腺癌患者之间的miR-146a表达水平没有明显差异,但miR-146a可能是化疗导致心脏毒性的诊断或预后生物标志物。因此,需要对化疗导致心脏毒性的大量乳腺癌患者进行 miR-146a 表达检测。
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引用次数: 0
The alarming rise of lifestyle diseases and their impact on public health: A comprehensive overview and strategies for overcoming the epidemic. 生活方式疾病的惊人增加及其对公众健康的影响:全面概述和克服这一流行病的战略。
IF 1.5 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-30 eCollection Date: 2025-01-01 DOI: 10.4103/jrms.jrms_54_24
Ram Kumar Garg

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.

生活方式疾病,包括心血管疾病、糖尿病、肥胖症和精神疾病的发病率不断上升,对全球健康构成了重大威胁。这项研究旨在强调久坐不动的生活方式、不良饮食和慢性压力对个人和社区的影响。该研究提倡采取涉及公共卫生政策、教育和社区参与的综合战略。通过改变生活方式和政策干预来克服挑战至关重要。研究还讨论了成功的全球干预措施及其在低资源环境中的应用,以防治生活方式疾病,改善公众健康。生活方式疾病对全球健康构成严重威胁。需要采取紧急行动来应对久坐不动的生活方式、不良饮食和慢性压力。通过政策、教育和社区参与来协调努力至关重要。推广健康的生活习惯和利用全球干预措施可以取得重大进展。利益相关者之间的合作对于改善全球福祉至关重要。
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引用次数: 0
Association of cardiac troponin I level with in-hospital and late mortality in dialysis patients. 心脏肌钙蛋白I水平与透析患者住院和晚期死亡率的关系
IF 1.5 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-30 eCollection Date: 2025-01-01 DOI: 10.4103/jrms.jrms_658_23
Shahram Taheri, Golbarg Ghomi, Alireza Nematollahi, Sayed Mohsen Hosseini

Background: 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.

Materials and methods: 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.

Results: 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 (P < 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.

Conclusion: 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.

背景:心血管疾病(CVDs)在终末期肾病(ESRD)患者中发病率很高。心肌肌钙蛋白 I(cTnI)对无症状 ESRD 患者的预后价值尚无定论。本研究是一项观察性研究,旨在评估首次入院的 cTnI 水平与 ESRD 患者因非急性冠状动脉疾病和非心力衰竭原因入院的早期和晚期(6 个月内)住院及死亡率的相关性:在这项前瞻性观察研究中,纳入了在两所大学医院住院的 460 名无明显心血管疾病的透析患者,并对其进行了为期 6 个月的随访。研究记录了患者的人口统计学信息和实验室检查结果,包括 cTnI 水平和入院原因。结果发现:女性(35.9%)、血液透析患者(28.1%)和使用永久性导管血管通路的患者(29.4%)的 cTnI 水平较高。cTnI 水平正常和异常患者的甘油三酯(TG)、低密度脂蛋白(LDL)胆固醇和高密度脂蛋白(HDL)胆固醇水平存在明显差异(P < 0.05)。cTnI 水平异常患者的总胆固醇和低密度脂蛋白胆固醇水平较高,而高密度脂蛋白胆固醇水平较低。在逻辑回归分析中,只有女性性别(几率比 [OR] =1.89,置信区间 [CI] =1.22-3.076)和 TG(OR =1.007,CI =1.003-1.01)与高密度脂蛋白胆固醇水平(OR = 0.cTnI水平与早期(OR = 4.81,CI = 1.64-14.89)和晚期(OR = 4.31,CI = 1.61-10.96)死亡率相关:尽管在本研究中,cTnI 水平与心血管疾病、入院和再入院原因没有直接关系,但它却是早期和晚期死亡率的有力预测指标。
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引用次数: 0
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. 比较间歇性禁食单独或联合益生菌补充与卡路里限制饮食对多囊卵巢综合征女性炎症、氧化应激和抗氧化能力生物标志物的影响:一项随机安慰剂对照试验
IF 1.5 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-30 eCollection Date: 2025-01-01 DOI: 10.4103/jrms.jrms_280_24
Sepide Talebi, Sakineh Shab-Bidar, Gholamreza Askari, Hamed Mohammadi, Ashraf Moini, Kurosh Djafarian

Background: 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).

Materials and methods: 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 (n = 30), 14:10 eTRE with placebo supplementation (n = 30), or DCR with placebo supplementation (n = 30). At the beginning and 8 weeks of the intervention, systolic blood pressure (SBP) and diastolic BP, inflammation, and OS parameters were evaluated.

Results: 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 (P < 0.005). Total antioxidant capacity (TAC) also showed notable improvement in both the eTRE + probiotic group (P = 0.012) and the DCR group (P = 0.032). However, there were no significant differences between the three groups regarding BP, OS, TAC, and CRP markers.

Conclusion: 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.

研究背景本研究的目的是比较早期限时进食(eTRE)和eTRE加益生菌补充剂与单纯每日热量限制(DCR)对多囊卵巢综合征(PCOS)肥胖妇女的氧化应激(OS)生物标志物、抗氧化能力、炎症和血压(BP)的影响:研究以随机、平行、安慰剂对照临床试验的形式进行,随访期为 8 周。参与者被随机分配到三组中的一组:补充益生菌的 14:10 eTRE 组(30 人)、补充安慰剂的 14:10 eTRE 组(30 人)或补充安慰剂的 DCR 组(30 人)。在干预开始和8周时,对收缩压(SBP)和舒张压、炎症和OS参数进行评估:共有 90 名参与者(平均年龄 30.49 岁,平均体重 81.45 公斤)参加了此次试验。经过 8 周的干预,我们观察到 eTRE + 益生菌组(-0.31 mmHg [95% 置信区间 (CI):-0.55, -0.07])和 eTRE + 安慰剂组(-0.24 mmHg [95% CI:-0.43, 0.04])的 SBP 均明显下降,组间无明显差异。此外,各组的 C 反应蛋白 (CRP) 水平均显著降低(P < 0.005)。总抗氧化能力(TAC)在 eTRE + 益生菌组(P = 0.012)和 DCR 组(P = 0.032)也有明显改善。然而,三组之间在血压、OS、TAC 和 CRP 指标方面没有明显差异:结论:在患有多囊卵巢综合征的肥胖女性中,与标准DCR饮食相比,单独eTRE或eTRE与益生菌干预并不能改善血压、炎症、OS和抗氧化能力等生物标志物。本研究显示,与标准DCR相比,在确诊为多囊卵巢综合征的肥胖女性中,单独使用eTRE或eTRE与益生菌联合使用,均不能显著改善血压、炎症指标、OS或抗氧化能力。
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引用次数: 0
Evaluation of common COL2A1 gene variants in Iranian patients suspected with Stickler syndrome type I. 伊朗疑似Stickler综合征I型患者常见COL2A1基因变异的评估
IF 1.5 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-30 eCollection Date: 2025-01-01 DOI: 10.4103/jrms.jrms_447_24
Fatemeh Abolhasani, Hossein Abdali, Mohammad Kazemi, Bijan Movahedian Attar, Fatemeh Derakhshandeh, Majid Hosseinzadeh

Background: 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 COL2A1 gene. The objective of this study is to investigate the prevalence of common variants of the COL2A1 gene among individuals suspected of having Stickler syndrome type I.

Materials and methods: 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 COL2A1 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.

Results: 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 COL2A1 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.

Conclusion: Genetic analysis of Twenty-six unrelated families with Stickler syndrome type I disorder discovered one novel pathogenic variant in the COL2A1 gene in a patient with Stickler syndrome type I. Genetic analysis is helpful for the diagnosis of this clinically variable and genetically heterogeneous disorder.

背景:Stickler综合征,也称为遗传性进行性关节眼病,是一种由多个基因突变引起的结缔组织疾病,每个基因都有不同的遗传模式。Stickler综合征I型以常染色体显性方式遗传,与COL2A1基因突变特别相关。本研究的目的是调查COL2A1基因常见变异在疑似Stickler综合征I型患者中的流行情况。材料和方法:本横断面研究采用26例伊朗疑似Stickler综合征I型患者,就诊于伊斯法罕Al-Zahra医院。从患者外周血样本中提取DNA,通过聚合酶链反应扩增COL2A1基因的外显子。随后,对纯化的扩增子进行Sanger测序,以确定与Stickler综合征i型相关的常见变异。结果:所有患者均表现为腭裂异常(腭、唇和肺泡),84.6%的患者表现为眼部异常,53.8%的患者表现为听力异常,34.6%的患者表现为骨骼异常。数据显示,最高的表现型表现与唇裂和腭裂有关,而偏瘫是患者中最低的临床表现。通过分子分析筛选患者的COL2A1基因,发现了两种不同的变异,包括一种新的无义变异(c.1030C>T),与显性遗传的Stickler综合征I型一致,也有同义突变(c.213C>T)影响外显子2,已在数据库中报道。结论:对26个无亲缘关系的Stickler综合征I型疾病家族进行遗传分析,发现1例Stickler综合征I型患者COL2A1基因有一个新的致病变异,遗传分析有助于该病的临床变异性和遗传异质性的诊断。
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引用次数: 0
Reply to Editor: Serum zinc levels in hemodialysis and peritoneal dialysis patients: A retrospective observational study. 回复编辑:血液透析和腹膜透析患者血清锌水平:一项回顾性观察性研究。
IF 1.5 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-30 eCollection Date: 2025-01-01 DOI: 10.4103/jrms.jrms_587_24
Mehdi Nematbakhsh
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引用次数: 0
Diagnosis of traumatic liver injury on computed tomography using machine learning algorithms and radiomics features: The role of artificial intelligence for rapid diagnosis in emergency rooms. 利用机器学习算法和放射组学特征在计算机断层扫描上诊断外伤性肝损伤:人工智能在急诊室快速诊断中的作用
IF 1.5 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-12-31 eCollection Date: 2024-01-01 DOI: 10.4103/jrms.jrms_847_23
Hanieh Alimiri Dehbaghi, Karim Khoshgard, Hamid Sharini, Samira Jafari Khairabadi

Background: The initial assessment of trauma is a time-consuming and challenging task. The purpose of this research is to examine the diagnostic effectiveness and usefulness of machine learning models paired with radiomics features to identify blunt traumatic liver injury in abdominal computed tomography (CT) images.

Materials and methods: In this study, 600 CT scan images of people with mild and severe liver damage due to trauma and healthy people were collected from the Kaggle dataset. The axial images were segmented by an experienced radiologist, and radiomics features were extracted from each region of interest. Initially, 30 machine learning models were implemented, and finally, three machine learning models were selected including Light Gradient-Boosting Machine (LGBM), Ridge Classifier, and Extreme Gradient Boosting (XGBoost), and their performance was examined in more detail.

Results: The two criteria of precision and specificity of LGBM and XGBoost models in diagnosing mild liver injury were calculated to be 100%. Only 6.00% of cases were misdiagnosed by the LGBM model. The LGBM model achieved 100% sensitivity and 99.00% accuracy in diagnosing severe liver injury. The area under the receiver operating characteristic curve value and precision of this model were also calculated to be 99.00% and 98.00%, respectively.

Conclusion: The artificial intelligence models used in this study have great potential to improve patient care by assisting radiologists and other physicians in diagnosing and staging trauma-related liver injuries. These models can help prioritize positive studies, allow more rapid evaluation, and identify more severe injuries that may require immediate intervention.

背景:创伤的初步评估是一项耗时且具有挑战性的任务。本研究的目的是检查机器学习模型与放射组学特征配对的诊断有效性和有用性,以识别腹部计算机断层扫描(CT)图像中的钝性外伤性肝损伤。材料与方法:本研究从Kaggle数据集中收集了600张外伤引起的轻、重度肝损伤患者和健康人的CT扫描图像。轴向图像由经验丰富的放射科医生分割,并从每个感兴趣的区域提取放射组学特征。首先,实现了30个机器学习模型,最后选择了3个机器学习模型,包括Light Gradient-Boosting machine (LGBM)、Ridge Classifier和Extreme Gradient Boosting (XGBoost),并对它们的性能进行了更详细的研究。结果:计算得出LGBM和XGBoost模型诊断轻度肝损伤的精确性和特异性两项标准均为100%。LGBM模型的误诊率仅为6.00%。LGBM模型对重度肝损伤的诊断灵敏度为100%,准确率为99.00%。该模型的受者工作特征曲线值下面积和精度分别为99.00%和98.00%。结论:本研究中使用的人工智能模型具有很大的潜力,可以通过协助放射科医生和其他医生诊断和分期外伤性肝损伤来改善患者护理。这些模型可以帮助确定阳性研究的优先级,允许更快速的评估,并识别可能需要立即干预的更严重的损伤。
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引用次数: 0
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Journal of Research in Medical Sciences
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