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Journal of the College of Physicians and Surgeons--Pakistan : JCPSP最新文献

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Carbamazepine Overdose Successfully Treated with Combined Resin Haemoperfusion and Continuous Venovenous Haemodiafiltration. 树脂血液灌流和持续静脉-静脉血液渗滤联合治疗卡马西平过量成功。
IF 0.8 Pub Date : 2025-11-01 DOI: 10.29271/jcpsp.2025.11.1499
Wenbin Zhang, Xiaoyun Yang, Xiaohong Huang

Null.

Null。
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引用次数: 0
Reducing Unnecessary Free Thyroid Hormone Testing. 减少不必要的免费甲状腺激素测试。
IF 0.8 Pub Date : 2025-11-01 DOI: 10.29271/jcpsp.2025.11.1491
Xuan Zhang, Guo-Ming Zhang

Null.

Null。
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引用次数: 0
DeepSeek-R1 in Clinical Medicine: Advancing AI-Driven Diagnostics, Decision Support and Medical Education. DeepSeek-R1在临床医学:推进人工智能驱动的诊断,决策支持和医学教育。
IF 0.8 Pub Date : 2025-11-01 DOI: 10.29271/jcpsp.2025.11.1481
Yuhui Chen, Shousen Wang

DeepSeek, a rising artificial intelligence (AI) company in Hangzhou, China, introduced DeepSeek-R1, an advanced reasoning model that rivals top large language models such as GPT-4 and Gemini, while operating at significantly lower costs. Its innovative architecture, which includes multi-head latent attention and a mixture of experts, enhances efficiency, reduces computational demands, and improves the processing of long text. DeepSeek's open-source approach has accelerated AI adoption, particularly in clinical medicine, where it supports intelligent diagnosis, surgical planning, and personalised treatment. With multimodal integration capabilities, it processes imaging, pathology, and real-time patient data to optimise decision-making. Notably, DeepSeek can significantly enhance medical education through interactive simulations and virtual training. However, challenges such as interpretability, data privacy, and cultural adaptability remain unresolved. Despite these hurdles, the advancements introduced by DeepSeek in AI-driven healthcare hold promise for enhancing clinical decision support, medical imaging, and patient-doctor communication, thereby positioning it as a transformative force in the field of medical AI. Key Words: DeepSeek, Artificial intelligence, Clinical decision support, Healthcare technology.

位于中国杭州的新兴人工智能(AI)公司DeepSeek推出了与GPT-4、Gemini等顶级大型语言模型相媲美的高级推理模型DeepSeek- r1,其运行成本大大降低。它的创新架构,包括多头潜在注意力和专家混合,提高了效率,减少了计算需求,并改善了长文本的处理。DeepSeek的开源方法加速了人工智能的应用,特别是在临床医学领域,它支持智能诊断、手术计划和个性化治疗。它具有多模式集成能力,可以处理成像、病理和实时患者数据,以优化决策。值得注意的是,DeepSeek可以通过交互式模拟和虚拟培训显著增强医学教育。然而,诸如可解释性、数据隐私和文化适应性等挑战仍未得到解决。尽管存在这些障碍,DeepSeek在人工智能驱动的医疗保健领域所取得的进步有望增强临床决策支持、医学成像和医患沟通,从而将其定位为医疗人工智能领域的变革力量。关键词:DeepSeek,人工智能,临床决策支持,医疗技术
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引用次数: 0
Early-Term Results of Endovenous Saphenous Vein Radiofrequency Ablation Combination with Trans-
sheath Ultrasound-Guided Foam Sclerotherapy.
静脉内隐静脉射频消融联合经鞘超声引导泡沫硬化治疗的早期疗效。
IF 0.8 Pub Date : 2025-11-01 DOI: 10.29271/jcpsp.2025.11.1391
Sonay Oguz

Objective: To determine the early success rate in cases of great saphenous vein insufficiency treated with radiofrequency ablation (RFA) and combined transsheath ultrasonography-guided foam sclerotherapy (RFA+ST).

Study design: Descriptive study. Place and Duration of the Study: Department of Cardiovascular Surgery, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkiye, from July 2022 to October 2024.

Methodology: Patients who underwent only RFA and combined RFA+ST between July 2022 and October 2024 were retrospectively scanned. Demographic data and complications were recorded. Differences between the demographic and collected data of the two groups were examined using the Mann-Whitney U test, Pearson's Chi-square or Fisher's exact test.

Results: In total, 235 patients were included in the study: 120 in the RFA group (Group A) and 115 in the RFA+ST group (Group B). The median age (IQR) of Groups A and B was 48 (24) and 50 (26) years, respectively. The gender distribution was 86 females (65.6%) and 45 males (34.4%) in Group A, 75 females (67%) and 37 males (33%) in Group B. The median GSV diameter was 6.7 (1.5) mm and 7 (1.7) mm, respectively. Recanalisation occurred in 8 (6.1%) patients in Group A and 1 (0.9%) patient in Group B (p = 0.041). Other complications in Groups A and B included tenderness [7 (5.3%) vs. 12 (10.7%)], phlebitis or cellulitis [4 (3.1%) vs. 2 (1.8%)], ecchymosis [1 (0.8%) vs. 2 (1.8%)], hyperpigmentation [5 (3.8%) vs. 2 (1.8%)], and phlebothrombosis [7 (5.3%) vs. 24 (21.4%); p <0.001], respectively.

Conclusion: In Group B combined with foam sclerotherapy, recanalisation rate was found to be significantly lower, and phlebothrombosis was higher in the early period. Closure reactions may develop more strongly with phlebothrombosis; however, appropriate case selection and procedure should be performed very carefully due to possible adverse conditions such as deep vein thrombosis.

Key words: Venous insufficiency, Radiofrequency ablation, Endovenous laser, Foam sclerotherapy.

目的:探讨经鞘超声引导下射频消融术(RFA)联合泡沫硬化疗法(RFA+ST)治疗大隐静脉不全的早期成功率。研究设计:描述性研究。研究地点和时间:2022年7月至2024年10月,土耳其恰纳卡莱市恰纳卡莱市Onsekiz Mart大学医学院心血管外科学系。方法:回顾性扫描2022年7月至2024年10月期间仅接受RFA和RFA+ST联合治疗的患者。记录人口统计资料及并发症。使用Mann-Whitney U检验、Pearson卡方检验或Fisher精确检验来检验两组人口统计数据和收集数据之间的差异。结果:共纳入235例患者,其中RFA组120例(A组),RFA+ST组115例(B组)。A组和B组的中位年龄(IQR)分别为48(24)岁和50(26)岁。性别分布:A组女性86例(65.6%),男性45例(34.4%),b组女性75例(67%),男性37例(33%),中位GSV直径分别为6.7 (1.5)mm和7 (1.7)mm。A组有8例(6.1%)患者再通,B组有1例(0.9%)患者再通(p = 0.041)。A组和B组的其他并发症包括压痛[7例(5.3%)对12例(10.7%)]、静脉炎或蜂窝织炎[4例(3.1%)对2例(1.8%)]、瘀斑[1例(0.8%)对2例(1.8%)]、色素沉着[5例(3.8%)对2例(1.8%)]、静脉血栓形成[7例(5.3%)对24例(21.4%);p结论:B组联合泡沫硬化治疗可显著降低再通率,早期血栓形成较高。静脉血栓形成时,闭合反应可能更强烈;然而,适当的病例选择和程序应执行非常谨慎,因为可能的不利条件,如深静脉血栓形成。关键词:静脉功能不全,射频消融,静脉内激光,泡沫硬化治疗。
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引用次数: 0
The Efficacy of Ibuprofen for Postoperative Pain Following Laparoscopic Cholecystectomy: A Randomised Controlled Study. 布洛芬对腹腔镜胆囊切除术后疼痛的疗效:一项随机对照研究。
IF 0.8 Pub Date : 2025-11-01 DOI: 10.29271/jcpsp.2025.11.1368
Azime Bulut, Fatma Alkan Bayburt, Ilke Tamdogan

Objective: To compare the effects of intravenous (IV) ibuprofen and acetaminophen on pain perception and opioid consumption following laparoscopic cholecystectomy.

Study design: Randomised-controlled study. Place and Duration of the Study: Department of Anaesthesiology and Reanimation, Giresun University Training and Research Hospital, Giresun, Turkiye, from February to April 2024.

Methodology: The patients undergoing laparoscopic cholecystectomy were randomised into two groups: Group I (n = 35; administered 800 mg of ibuprofen) and Group A (n = 36; administered 1000 mg of acetaminophen). Demographic data, including gender, age, American Society of Anaesthesiologists (ASA) classification, body mass index (BMI), duration of anaesthesia and surgery, incidence of postoperative nausea and vomiting (PONV), length of hospital stay (LOS), visual analogue scale (VAS) scores, and opioid consumption, were recorded. To compare the two independent groups, the Student's t-test was used for parametric data, whereas the Mann-Whitney U-test was employed for non-parametric variables. A p-value <0.05 was considered statistically significant.

Results: Demographic data such as age, gender, BMI, and ASA scores were similar in both groups. The pain scores at recovery, 12, and 24 hours were lower in Group I (p <0.05). However, the VAS scores were similar at 2 and 6 (p >0.05). While the peak VAS scores were similar between the groups, the VAS scores at discharge were found to be significantly lower in Group I (p= 0.271, 0.001 respectively). In terms of total tramadol consumption, 24-hour consumption was lower in Group I (100 [0-300] and 0 [0-300] mg, respectively; p = 0.001).

Conclusion: The present study suggests that the IV administration of ibuprofen results in lower pain scores and reduced opioid consumption compared with the administration of acetaminophen postoperatively in patients undergoing laparoscopic cholecystectomy.

Key words: Intravenous ibuprofen, Acetaminophen, Laparoscopic cholecystectomy, Postoperative pain control, Analgesia, Anti-inflammatory agents.

目的:比较静脉注射布洛芬和对乙酰氨基酚对腹腔镜胆囊切除术后疼痛感知和阿片类药物消耗的影响。研究设计:随机对照研究。研究地点和时间:2024年2月至4月,土耳其吉雷松吉雷松大学培训与研究医院麻醉与复苏科。方法:将腹腔镜胆囊切除术患者随机分为两组:I组(n = 35,给予800 mg布洛芬)和A组(n = 36,给予1000 mg对乙酰氨基酚)。记录人口统计学数据,包括性别、年龄、美国麻醉医师学会(ASA)分类、体重指数(BMI)、麻醉和手术持续时间、术后恶心呕吐发生率(PONV)、住院时间(LOS)、视觉模拟评分(VAS)评分和阿片类药物消耗。为了比较两个独立的组,参数数据使用学生t检验,而非参数变量使用Mann-Whitney u检验。A p值结果:两组的年龄、性别、BMI和ASA评分等人口统计数据相似。恢复、12、24小时疼痛评分均低于对照组(p < 0.05)。两组患者的VAS评分峰值相似,但第一组患者出院时的VAS评分明显较低(p= 0.271, 0.001)。就曲马多的总摄入量而言,第一组的24小时消耗量较低(分别为100[0-300]和0 [0-300]mg, p = 0.001)。结论:本研究提示,与腹腔镜胆囊切除术患者术后给予对乙酰氨基酚相比,静脉给予布洛芬可降低疼痛评分,减少阿片类药物消耗。关键词:静脉布洛芬,对乙酰氨基酚,腹腔镜胆囊切除术,术后疼痛控制,镇痛,抗炎药
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引用次数: 0
Factors Associated with Survival Outcomes in Ovarian Cancer Patients in Karachi, Pakistan: Results from a Single-Institution Cancer Registry. 巴基斯坦卡拉奇卵巢癌患者生存结局相关因素:来自单一机构癌症登记的结果。
IF 0.8 Pub Date : 2025-11-01 DOI: 10.29271/jcpsp.2025.11.1418
Uzma Shamsi, Namra Usman, Azmeena Tajuddin, Uzma Chishti

Objective: To evaluate survival outcomes and identify sociodemographic and clinicopathological factors associated with survival among women diagnosed with ovarian cancer (OC) in Karachi, Pakistan.

Study design: Retrospective cohort study. Place and Duration of the Study: The Aga Khan University Hospital, Karachi, Pakistan, between 2010 and 2020.

Methodology: A total of 966 women aged 18-91 years with OC were identified from the University Hospital cancer registry. Data on vital status and last contact dates were updated. Sociodemographic characteristics, tumour features, stage, CA125 levels, and treatment modalities were analysed. Survival was assessed as the primary endpoint using Kaplan-Meier survival analysis and Cox proportional hazards models, with hazard ratios (HR) and 95% confidence intervals (CI) reported.

Results: Patients who did not undergo cytoreductive surgery exhibited the highest mortality risk (HR: 3.94; CI: 2.69-5.76), followed by those who underwent suboptimal cytoreduction surgery (HR: 2.01; CI: 1.29-3.13) compared to those who underwent optimal cytoreduction surgery. Chemotherapy significantly reduced mortality risk (HR: 0.56; CI: 0.39-0.82). Recurrence was a critical determinant of poor survival, with the highest risk observed in patients who were never disease-free (HR: 10.81; CI: 6.12-19.07) or experienced recurrence (HR: 7.44; CI: 4.31-12.86).

Conclusion: Optimal cytoreduction surgery and chemotherapy are essential in improving survival outcomes for OC patients. Recurrence remains a significant determinant of poor prognosis. Enhancing early detection, optimising treatment strategies, and strengthening healthcare infrastructure are critical for improving survival outcomes among OC patients in Karachi.

Key words: Ovarian cancer, Survival outcomes, Cytoreductive surgery, Chemotherapy, Recurrence.

目的:评估巴基斯坦卡拉奇诊断为卵巢癌(OC)的妇女的生存结果,并确定与生存相关的社会人口统计学和临床病理因素。研究设计:回顾性队列研究。研究地点和时间:2010年至2020年在巴基斯坦卡拉奇的阿迦汗大学医院。方法:从大学医院癌症登记处确定了966名年龄在18-91岁的OC女性。更新了生命状况和最后接触日期的数据。分析了社会人口学特征、肿瘤特征、分期、CA125水平和治疗方式。使用Kaplan-Meier生存分析和Cox比例风险模型评估生存率作为主要终点,并报告风险比(HR)和95%置信区间(CI)。结果:与接受最佳细胞减少手术的患者相比,未接受细胞减少手术的患者表现出最高的死亡风险(HR: 3.94; CI: 2.69-5.76),其次是接受次优细胞减少手术的患者(HR: 2.01; CI: 1.29-3.13)。化疗显著降低了死亡风险(HR: 0.56; CI: 0.39-0.82)。复发是不良生存率的关键决定因素,从未无病(HR: 10.81; CI: 6.12-19.07)或经历过复发(HR: 7.44; CI: 4.31-12.86)的患者风险最高。结论:最佳的细胞减少手术和化疗对改善卵巢癌患者的生存结果至关重要。复发仍然是不良预后的重要决定因素。加强早期检测、优化治疗策略和加强医疗基础设施对于改善卡拉奇OC患者的生存结果至关重要。关键词:卵巢癌,生存结局,减法手术,化疗,复发。
{"title":"Factors Associated with Survival Outcomes in Ovarian Cancer Patients in Karachi, Pakistan: Results from a Single-Institution Cancer Registry.","authors":"Uzma Shamsi, Namra Usman, Azmeena Tajuddin, Uzma Chishti","doi":"10.29271/jcpsp.2025.11.1418","DOIUrl":"https://doi.org/10.29271/jcpsp.2025.11.1418","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate survival outcomes and identify sociodemographic and clinicopathological factors associated with survival among women diagnosed with ovarian cancer (OC) in Karachi, Pakistan.</p><p><strong>Study design: </strong>Retrospective cohort study. Place and Duration of the Study: The Aga Khan University Hospital, Karachi, Pakistan, between 2010 and 2020.</p><p><strong>Methodology: </strong>A total of 966 women aged 18-91 years with OC were identified from the University Hospital cancer registry. Data on vital status and last contact dates were updated. Sociodemographic characteristics, tumour features, stage, CA125 levels, and treatment modalities were analysed. Survival was assessed as the primary endpoint using Kaplan-Meier survival analysis and Cox proportional hazards models, with hazard ratios (HR) and 95% confidence intervals (CI) reported.</p><p><strong>Results: </strong>Patients who did not undergo cytoreductive surgery exhibited the highest mortality risk (HR: 3.94; CI: 2.69-5.76), followed by those who underwent suboptimal cytoreduction surgery (HR: 2.01; CI: 1.29-3.13) compared to those who underwent optimal cytoreduction surgery. Chemotherapy significantly reduced mortality risk (HR: 0.56; CI: 0.39-0.82). Recurrence was a critical determinant of poor survival, with the highest risk observed in patients who were never disease-free (HR: 10.81; CI: 6.12-19.07) or experienced recurrence (HR: 7.44; CI: 4.31-12.86).</p><p><strong>Conclusion: </strong>Optimal cytoreduction surgery and chemotherapy are essential in improving survival outcomes for OC patients. Recurrence remains a significant determinant of poor prognosis. Enhancing early detection, optimising treatment strategies, and strengthening healthcare infrastructure are critical for improving survival outcomes among OC patients in Karachi.</p><p><strong>Key words: </strong>Ovarian cancer, Survival outcomes, Cytoreductive surgery, Chemotherapy, Recurrence.</p>","PeriodicalId":94116,"journal":{"name":"Journal of the College of Physicians and Surgeons--Pakistan : JCPSP","volume":"35 11","pages":"1418-1423"},"PeriodicalIF":0.8,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145544053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Deep Learning Approach for Detecting Periapical Lesions on Panoramic Radiographic Images. 基于深度学习的全景x线图像根尖周病变检测方法。
IF 0.8 Pub Date : 2025-11-01 DOI: 10.29271/jcpsp.2025.11.1461
Mert Yagiz Pekiner, Hakan Yulek, Ayse Gul Oner Talmac, Gaye Keser, Filiz Namdar Pekiner, Ibrahim Sevki Bayrakdar

Objective: To assess the performance of a deep learning method for detecting the segmentation of periapical lesions on dental panoramic radiographs.

Study design: Observational study. Place and Duration of the Study: Faculty of Dentistry, Van Yuzuncu Yil University, Van, Turkiye, from March to September 2024.

Methodology: The deep learning model, YOLOv5, based on the YOLO algorithm for periapical lesion segmentation, was further developed using 1,500 anonymised panoramic radiographs. The radiographs were obtained from the Radiology Archive at the aforementioned University. For apical lesion segmentation, YOLOv5 with the PyTorch model was utilised. The dataset was divided into training (n = 1,200 radiographs / 2,628 labels), validation (150 radiographs / 325 labels), and test (n = 150 radiographs / 368 labels) sets. The model's effectiveness was measured using the confusion matrix. Sensitivity (recall), precision, and F1 scores provided quantitative assessments of the model's predictive capabilities.

Results: The sensitivity, precision, and F1 score performance values of the YOLOv5 deep learning algorithm were 0.682, 0.784, and 0.729, respectively.

Conclusion: Periapical lesions on panoramic radiography can be reliably identified using deep learning algorithms. Dental healthcare is being revolutionised by artificial intelligence and deep learning methods, which are advantageous to both the system and practitioners. While the current YOLO-based system yields encouraging findings, additional data should be gathered in future research to improve detection outcomes.

Key words: Panoramic radiography, Periapical pathology, Deep learning, Artificial intelligence, Lesion segmentation, YOLOv5.

目的:评价一种深度学习方法在牙科全景x线片根尖周病变分割中的应用效果。研究设计:观察性研究。研究地点和时间:2024年3月至9月,土耳其Van Van Yuzuncu Yil大学牙科学院。方法:利用1500张匿名全景x线照片,在YOLO算法的基础上,进一步开发了深度学习模型YOLOv5,用于根尖周围病变分割。这些x光片是从上述大学的放射学档案馆获得的。对于根尖病变分割,使用PyTorch模型的YOLOv5。数据集分为训练集(n = 1200张x射线片/ 2628个标签)、验证集(150张x射线片/ 325个标签)和测试集(n = 150张x射线片/ 368个标签)。使用混淆矩阵来衡量模型的有效性。灵敏度(召回率)、精度和F1分数提供了模型预测能力的定量评估。结果:YOLOv5深度学习算法的灵敏度为0.682,精度为0.784,F1评分性能值为0.729。结论:利用深度学习算法可以可靠地识别全景x线片上的根尖周围病变。人工智能和深度学习方法正在彻底改变牙科保健,这对系统和从业者都是有利的。虽然目前基于yolo的系统产生了令人鼓舞的发现,但在未来的研究中应该收集更多的数据,以改善检测结果。关键词:全景摄影,根尖周围病理,深度学习,人工智能,病灶分割,YOLOv5
{"title":"A Deep Learning Approach for Detecting Periapical Lesions on Panoramic Radiographic Images.","authors":"Mert Yagiz Pekiner, Hakan Yulek, Ayse Gul Oner Talmac, Gaye Keser, Filiz Namdar Pekiner, Ibrahim Sevki Bayrakdar","doi":"10.29271/jcpsp.2025.11.1461","DOIUrl":"10.29271/jcpsp.2025.11.1461","url":null,"abstract":"<p><strong>Objective: </strong>To assess the performance of a deep learning method for detecting the segmentation of periapical lesions on dental panoramic radiographs.</p><p><strong>Study design: </strong>Observational study. Place and Duration of the Study: Faculty of Dentistry, Van Yuzuncu Yil University, Van, Turkiye, from March to September 2024.</p><p><strong>Methodology: </strong>The deep learning model, YOLOv5, based on the YOLO algorithm for periapical lesion segmentation, was further developed using 1,500 anonymised panoramic radiographs. The radiographs were obtained from the Radiology Archive at the aforementioned University. For apical lesion segmentation, YOLOv5 with the PyTorch model was utilised. The dataset was divided into training (n = 1,200 radiographs / 2,628 labels), validation (150 radiographs / 325 labels), and test (n = 150 radiographs / 368 labels) sets. The model's effectiveness was measured using the confusion matrix. Sensitivity (recall), precision, and F1 scores provided quantitative assessments of the model's predictive capabilities.</p><p><strong>Results: </strong>The sensitivity, precision, and F1 score performance values of the YOLOv5 deep learning algorithm were 0.682, 0.784, and 0.729, respectively.</p><p><strong>Conclusion: </strong>Periapical lesions on panoramic radiography can be reliably identified using deep learning algorithms. Dental healthcare is being revolutionised by artificial intelligence and deep learning methods, which are advantageous to both the system and practitioners. While the current YOLO-based system yields encouraging findings, additional data should be gathered in future research to improve detection outcomes.</p><p><strong>Key words: </strong>Panoramic radiography, Periapical pathology, Deep learning, Artificial intelligence, Lesion segmentation, YOLOv5.</p>","PeriodicalId":94116,"journal":{"name":"Journal of the College of Physicians and Surgeons--Pakistan : JCPSP","volume":"35 11","pages":"1461-1465"},"PeriodicalIF":0.8,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145544741","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Case of Primary Vitreoretinal Lymphoma. 原发性玻璃体视网膜淋巴瘤1例。
IF 0.8 Pub Date : 2025-11-01 DOI: 10.29271/jcpsp.2025.11.1495
Chao Wang, Shuai Wu

Null.

Null。
{"title":"A Case of Primary Vitreoretinal Lymphoma.","authors":"Chao Wang, Shuai Wu","doi":"10.29271/jcpsp.2025.11.1495","DOIUrl":"10.29271/jcpsp.2025.11.1495","url":null,"abstract":"<p><p>Null.</p>","PeriodicalId":94116,"journal":{"name":"Journal of the College of Physicians and Surgeons--Pakistan : JCPSP","volume":"35 11","pages":"1495-1496"},"PeriodicalIF":0.8,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145544749","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Screening and Prenatal Diagnosis of Spinal Muscular Atrophy among Reproductive-Age Individuals from the Hubei Region. 湖北育龄人群脊髓性肌萎缩症筛查及产前诊断
IF 0.8 Pub Date : 2025-11-01 DOI: 10.29271/jcpsp.2025.11.1434
Jieping Song, Hui Li, Chengcheng Zhang, Yufei Jiang, Meiqi Yi, Mengxin Shen

Objective: To conduct carrier screening for spinal muscular atrophy (SMA) among individuals of childbearing age in the Hubei region, identify the carrier frequency, and provide a relevant basis and reference for prenatal diagnosis.

Study design: An observational study. Place and Duration of the Study: Department of Medical Genetics Centre, Maternal and Child Health Hospital of Hubei Province, Hubei, China, from August 2019 to August 2022.

Methodology: Real-time quantitative PCR was performed on 4,816 reproductive individuals from the Hubei region to detect the copy numbers of E7 and E8 in the SMN1 gene. The screening of SMA carriers and their spouses and prenatal diagnostic analysis of high-risk foetuses were also performed. Statistical analyses were conducted using SPSS version 20.0. Categorical data were compared using Chi-square tests, with statistical significance set at p <0.05.

Results: A total of 105 SMA carriers were identified, with a carrier rate of 2.18%. Among them, 100 carriers had heterozygous deletions of SMN1 exons 7 and 8, and five carriers had heterozygous deletions of SMN1 exon 7. The carrier rate was 2.33% in males and 2.15% in females. Four couples were found to be carriers (both with heterozygous deletions of SMN1 exons 7 and 8). Prenatal diagnosis of their foetuses showed that two were carriers, one foetus was affected with SMA (homozygous deletion of SMN1 exons 7 and 8), and one had no abnormalities. The result for the foetus with homozygous deletion was verified by multiplex ligation-dependent probe amplification (MLPA).

Conclusion: Screening SMA carriers and population genetic counselling can reduce SMA foetus births, with great significance for eugenics.

Key words: Spinal muscular atrophy (SMA), Carrier screening, Prenatal genetic diagnosis, Real-time quantitative PCR, SMN1 gene, Eugenics.

目的:对湖北地区育龄人群进行脊髓性肌萎缩症(SMA)携带者筛查,确定其携带者频次,为产前诊断提供相关依据和参考。研究设计:观察性研究。研究地点和时间:中国湖北省妇幼保健院医学遗传中心科室,2019年8月- 2022年8月。方法:对湖北地区4816例生殖个体进行实时定量PCR检测SMN1基因E7和E8的拷贝数。对SMA携带者及其配偶进行筛查,对高危胎儿进行产前诊断分析。采用SPSS 20.0版本进行统计分析。分类资料比较采用卡方检验,统计学显著性设为p。结果:共鉴定出SMA携带者105例,携带者率为2.18%。其中SMN1外显子7、8杂合缺失100例,SMN1外显子7杂合缺失5例。带菌率男性为2.33%,女性为2.15%。发现四对夫妇是携带者(都有SMN1外显子7和8的杂合缺失)。产前诊断显示,两名胎儿为携带者,一名胎儿患有SMA (SMN1外显子7和8的纯合缺失),另一名胎儿无异常。纯合子缺失胎儿的结果通过多重结扎依赖探针扩增(MLPA)验证。结论:SMA携带者筛查和群体遗传咨询可减少SMA胎儿的出生,对优生学具有重要意义。关键词:脊髓性肌萎缩症(SMA),携带者筛选,产前遗传诊断,实时定量PCR, SMN1基因,优生
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引用次数: 0
Comparing Michigan Neuropathy Screening Instrument Score with Plantar Sensory Nerve Conduction Study in Diabetic Neuropathy. 密歇根神经病变筛查仪器评分与足底感觉神经传导研究在糖尿病神经病变中的比较。
IF 0.8 Pub Date : 2025-10-01 DOI: 10.29271/jcpsp.2025.10.1241
Saba Zaidi, Almas Zafar

Objective: To compare the Michigan Neuropathy Screening Instrument (MNSI) score and plantar sensory nerve conduction study (NCS) in diabetic patients with neuropathy.

Study design: Comparative study. Place and Duration of the Study: Department of Neurology, Liaquat National Hospital, Karachi, from March to August 2024.

Methodology: Using a non-probability purposive sampling technique, patients aged between 16 and 65 years with diabetic polyneuropathy and age-method healthy controls were included in the study. Neuropathy was graded based on MNSI score. Sural and plantar NCS were performed using the standard and modified Ponsford techniques, respectively. All evaluations were performed using a Nihon Kohden electromyography system to ensure reliable results. Data were collected using a well-designed questionnaire administered by neurology trainees and later analysed by SPSS version 27.

Results: A total of 78 participants, comprising 53 diabetic patients (33 MNSI-positive, 20 MNSI-negative) and 25 age-matched healthy controls, were analysed. MNSI-positive patients had significantly higher HbA1c and fasting blood sugar (FBS) levels compared to MNSI-negative patients with p = 0.005 and p = 0.001, respectively. The sural nerve conduction abnormalities were found in 39.7% participants, while 51.3% participants showed plantar nerve conduction abnormalities. There was a notable association between higher MNSI score and abnormal plantar NCS (p = 0.001), with significantly reduced amplitudes and conduction velocities in MNSI-positive patients, highlighting their sensitivity in detecting diabetic polyneuropathy. Additionally, lower amplitudes in the MNSI-negative group indicated their potential for identifying subclinical diabetic peripheral neuropathy (DPN).

Conclusion: The comparison of MNSI score with plantar sensory nerve conduction studies demonstrates that integrating both methods enhance the detection of early diabetic neuropathy.

Key words: Diabetic peripheral neuropathy, Plantar nerve conduction studies, sural nerve conduction studies, Michigan Neuropathy Screening Instrument, Glycated haemoglobin.

目的:比较密歇根神经病变筛查仪(MNSI)评分与足底感觉神经传导研究(NCS)对糖尿病合并神经病变的影响。研究设计:比较研究。研究地点和时间:2024年3月至8月,卡拉奇Liaquat国立医院神经内科。方法:采用非概率目的抽样技术,将年龄在16 ~ 65岁的糖尿病多发神经病变患者和年龄法健康对照纳入研究。根据MNSI评分对神经病变进行分级。分别采用标准和改良的Ponsford技术进行腓肠和足底NCS。所有评估均使用日本Kohden肌电图系统进行,以确保结果可靠。数据收集使用精心设计的问卷,由神经学学员管理,然后用SPSS 27版进行分析。结果:共分析了78名参与者,包括53名糖尿病患者(33名mnsi阳性,20名mnsi阴性)和25名年龄匹配的健康对照。mnsi阳性患者的HbA1c和空腹血糖(FBS)水平显著高于mnsi阴性患者(p = 0.005和p = 0.001)。39.7%的受试者存在腓肠神经传导异常,51.3%的受试者存在足底神经传导异常。MNSI评分较高与足底NCS异常之间存在显著相关性(p = 0.001), MNSI阳性患者的波幅和传导速度显著降低,突出了其检测糖尿病多发性神经病的敏感性。此外,mnsi阴性组的较低振幅表明它们有可能识别亚临床糖尿病周围神经病变(DPN)。结论:MNSI评分与足底感觉神经传导研究相结合,可提高早期糖尿病神经病变的检出率。关键词:糖尿病周围神经病变,足底神经传导研究,腓肠神经传导研究,密歇根神经病变筛查仪,糖化血红蛋白。
{"title":"Comparing Michigan Neuropathy Screening Instrument Score with Plantar Sensory Nerve Conduction Study in Diabetic Neuropathy.","authors":"Saba Zaidi, Almas Zafar","doi":"10.29271/jcpsp.2025.10.1241","DOIUrl":"https://doi.org/10.29271/jcpsp.2025.10.1241","url":null,"abstract":"<p><strong>Objective: </strong>To compare the Michigan Neuropathy Screening Instrument (MNSI) score and plantar sensory nerve conduction study (NCS) in diabetic patients with neuropathy.</p><p><strong>Study design: </strong>Comparative study. Place and Duration of the Study: Department of Neurology, Liaquat National Hospital, Karachi, from March to August 2024.</p><p><strong>Methodology: </strong>Using a non-probability purposive sampling technique, patients aged between 16 and 65 years with diabetic polyneuropathy and age-method healthy controls were included in the study. Neuropathy was graded based on MNSI score. Sural and plantar NCS were performed using the standard and modified Ponsford techniques, respectively. All evaluations were performed using a Nihon Kohden electromyography system to ensure reliable results. Data were collected using a well-designed questionnaire administered by neurology trainees and later analysed by SPSS version 27.</p><p><strong>Results: </strong>A total of 78 participants, comprising 53 diabetic patients (33 MNSI-positive, 20 MNSI-negative) and 25 age-matched healthy controls, were analysed. MNSI-positive patients had significantly higher HbA1c and fasting blood sugar (FBS) levels compared to MNSI-negative patients with p = 0.005 and p = 0.001, respectively. The sural nerve conduction abnormalities were found in 39.7% participants, while 51.3% participants showed plantar nerve conduction abnormalities. There was a notable association between higher MNSI score and abnormal plantar NCS (p = 0.001), with significantly reduced amplitudes and conduction velocities in MNSI-positive patients, highlighting their sensitivity in detecting diabetic polyneuropathy. Additionally, lower amplitudes in the MNSI-negative group indicated their potential for identifying subclinical diabetic peripheral neuropathy (DPN).</p><p><strong>Conclusion: </strong>The comparison of MNSI score with plantar sensory nerve conduction studies demonstrates that integrating both methods enhance the detection of early diabetic neuropathy.</p><p><strong>Key words: </strong>Diabetic peripheral neuropathy, Plantar nerve conduction studies, sural nerve conduction studies, Michigan Neuropathy Screening Instrument, Glycated haemoglobin.</p>","PeriodicalId":94116,"journal":{"name":"Journal of the College of Physicians and Surgeons--Pakistan : JCPSP","volume":"35 10","pages":"1241-1246"},"PeriodicalIF":0.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145245554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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