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Accelerated aging mediates the association between fecal incontinence and mortality: Evidence from the National Health and Nutrition Examination Survey. 加速衰老介导大便失禁和死亡率之间的关联:来自国家健康和营养检查调查的证据。
IF 1.5 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2026-03-01 Epub Date: 2026-03-08 DOI: 10.1177/03000605261425322
Yizhou Lu, Zixin Yu, Hongxin Chen, Hong Shen

ObjectiveThis study was designed to examine the relationship between fecal incontinence and accelerated aging, determine its association with mortality risk, and evaluate whether accelerated aging mediates the link between fecal incontinence and mortality.MethodsThis cohort study used data from the National Health and Nutrition Examination Survey. Accelerated aging was quantified using phenotypic age acceleration. Multivariable linear regression models, Cox proportional hazards models, and mediation analysis were employed to assess the associations between fecal incontinence, phenotypic age acceleration, and mortality.ResultsAmong 12,581 United States adults, the overall prevalence of fecal incontinence was 8.38%. Fecal incontinence was positively associated with phenotypic age acceleration (β: 0.98, 95% confidence interval: 0.43, 1.58) and increased risks of all-cause mortality (hazard ratio: 1.24, 95% confidence interval: 1.07, 1.44) and cardiovascular mortality (hazard ratio: 1.28, 95% confidence interval: 1.01, 1.63). Mediation analysis indicated that phenotypic age acceleration accounted for 9.56% of the effect of fecal incontinence on all-cause mortality.ConclusionAccelerated aging partially mediated the association between fecal incontinence and all-cause mortality in the United States population. These findings suggest new pathways for mitigating the broader health impacts of fecal incontinence.

目的本研究旨在探讨大便失禁与加速衰老之间的关系,确定其与死亡风险的关系,并评估加速衰老是否介导了大便失禁与死亡率之间的联系。方法本队列研究采用国家健康与营养检查调查数据。使用表型年龄加速来量化加速衰老。采用多变量线性回归模型、Cox比例风险模型和中介分析来评估大便失禁、表型年龄加速和死亡率之间的关系。结果在12581名美国成年人中,大便失禁的总患病率为8.38%。大便失禁与表型年龄加速(β: 0.98, 95%可信区间:0.43,1.58)、全因死亡率(风险比:1.24,95%可信区间:1.07,1.44)和心血管死亡率(风险比:1.28,95%可信区间:1.01,1.63)增加呈正相关。中介分析显示,表现型年龄加速对全因死亡率的影响占9.56%。结论在美国人群中,加速衰老在一定程度上介导了大便失禁与全因死亡率之间的关联。这些发现为减轻大便失禁对健康的广泛影响提供了新的途径。
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引用次数: 0
Signal detection of drug-induced esophageal ulcer across 20 years of real-world study: Focus on 49 high-risk medicines. 20年真实世界研究中药物性食管溃疡的信号检测:重点关注49种高危药物
IF 1.5 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2026-03-01 Epub Date: 2026-03-16 DOI: 10.1177/03000605261426764
Wei Zheng, Liang-Yan Jin, Jie Hu, Jun-Yi Wang, Kai-Li Mao, Qiu Jiang

ObjectiveTo systematically identify drug-induced esophageal ulcer and address existing knowledge gaps.MethodsWe conducted a real-world study using the Food and Drug Administration Adverse Event Reporting System database from Q1 2004 to Q4 2024. Disproportionality analyses were performed to evaluate drug-induced esophageal ulcer risk. Data for each drug were merged and screened using the RxNax platform to recalculate drug exposure, proportional reporting ratio, reporting odds ratio, and chi-squared values. High-risk drugs classified by anatomical therapeutic chemical classification system were cross-checked with Side Effect Resource, product labels, and published literature.ResultsA total of 12,763 drug-induced esophageal ulcer cases were identified. Forty-nine high-risk drugs, spanning nine anatomical therapeutic chemical classification system classes, were detected, including antineoplastics and immunomodulators (Class L), systemic anti-infectives (Class J), and drugs affecting the musculoskeletal system (Class M). Aspirin, alendronic acid, and doxycycline were most frequently reported; doxycycline, clindamycin, and alendronic acid generated the strongest safety signals. Antineoplastics/immunomodulators (anatomical therapeutic chemical classification system L) had the highest cumulative proportional reporting ratio, primarily driven by tacrolimus, mycophenolic acid, and sunitinib. Notably, tacrolimus, sunitinib, meclofenamic acid, clopidogrel, and erlotinib were associated with esophageal ulcers but remain unlabeled for this risk.ConclusionsThis study provides a comprehensive drug-induced esophageal ulcer risk profile, highlighting high-risk drugs beyond commonly recognized agents. These findings can inform safer prescribing practices, patient counseling, and targeted pharmacovigilance.

目的系统识别药物性食管溃疡,弥补现有知识空白。方法:从2004年第一季度到2024年第四季度,我们使用美国食品和药物管理局不良事件报告系统数据库进行了一项现实研究。歧化分析用于评估药物性食管溃疡的风险。使用RxNax平台对每种药物的数据进行合并和筛选,重新计算药物暴露、比例报告比、报告优势比和卡方值。根据解剖治疗化学分类系统分类的高危药物与副作用资源、产品标签和已发表的文献进行交叉核对。结果共检出药物性食管溃疡12763例。共检测到49种高危药物,跨越9个解剖治疗化学分类系统类,包括抗肿瘤和免疫调节剂(L类)、全身抗感染药物(J类)和影响肌肉骨骼系统的药物(M类)。阿司匹林、阿仑膦酸和强力霉素是最常见的;多西环素、克林霉素和阿仑膦酸产生的安全信号最强。抗肿瘤/免疫调节剂(解剖治疗化学分类系统L)的累积比例报告率最高,主要由他克莫司、霉酚酸和舒尼替尼驱动。值得注意的是,他克莫司、舒尼替尼、美氯芬酸、氯吡格雷和厄洛替尼与食管溃疡相关,但仍未标记为这种风险。结论:本研究提供了一个全面的药物性食管溃疡风险概况,突出了除常见药物外的高危药物。这些发现可以为更安全的处方实践、患者咨询和有针对性的药物警戒提供信息。
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引用次数: 0
Terbinafine-induced liver injury with isolated serum alkaline phosphatase elevation: A case report and literature review. 特比萘芬致肝损伤伴分离性血清碱性磷酸酶升高1例并文献复习。
IF 1.5 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2026-03-01 Epub Date: 2026-03-19 DOI: 10.1177/03000605261429248
Yi-Hui Liu, Yan Guo, Hong Xu, Hui Feng, Feng Pan

In cholestatic drug-induced liver injury, serum liver function tests typically demonstrate concurrent elevations in alkaline phosphatase and γ-glutamyltransferase, with or without increases in alanine aminotransferase, aspartate aminotransferase, and total bilirubin. Isolated elevation of alkaline phosphatase is rare. Herein, we report a case of drug-induced liver injury characterized by isolated alkaline phosphatase elevation for clinicians. Following treatment with ursodeoxycholic acid, the patient achieved complete recovery. Clinicians should recognize that drug-induced liver injury may also present as an isolated elevation of alkaline phosphatase.

在胆汁淤积性药物性肝损伤中,血清肝功能检查通常显示碱性磷酸酶和γ-谷氨酰转移酶同时升高,伴有或不伴有丙氨酸转氨酶、天冬氨酸转氨酶和总胆红素升高。孤立的碱性磷酸酶升高是罕见的。在此,我们报告一例药物性肝损伤的特点是分离碱性磷酸酶升高的临床医生。经熊去氧胆酸治疗后,患者完全康复。临床医生应该认识到,药物性肝损伤也可能表现为孤立的碱性磷酸酶升高。
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引用次数: 0
Prognostic utility of the serum uric acid-to-high-density lipoprotein cholesterol ratio following hepatectomy for hepatocellular carcinoma. 肝细胞癌肝切除术后血清尿酸与高密度脂蛋白胆固醇比值的预后价值。
IF 1.5 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2026-03-01 Epub Date: 2026-03-19 DOI: 10.1177/03000605261429828
Jia-Peng Liao, Di-Kai Liang, Lu-Yun Zhang, Xin Jiang, Xiong Tang, Ji-Wei Xu, Gao-Min Liu

ObjectiveTo evaluate the prognostic value of the uric acid-to-high-density lipoprotein cholesterol ratio in predicting postoperative survival in patients with hepatocellular carcinoma and to develop a nomogram to assist in clinical decision-making and patient management.MethodsA total of 422 patients who underwent hepatectomy at Meizhou People's Hospital between May 2011 and January 2023 were included. The optimal cutoff value for uric acid-to-high-density lipoprotein cholesterol ratio was determined using the R package 'survminer,' and patients were stratified into two groups accordingly. The prognostic significance of uric acid-to-high-density lipoprotein cholesterol ratio was evaluated using Kaplan-Meier survival analysis and Cox proportional hazards regression models. A prognostic nomogram was subsequently constructed. The predictive performance of the nomogram was assessed using the concordance index, and its clinical utility was evaluated via decision curve analysis.ResultsThe optimal cutoff value for uric acid-to-high-density lipoprotein cholesterol ratio was 253.9. Survival analysis demonstrated significantly longer survival in the low-uric acid-to-high-density lipoprotein cholesterol ratio group. Cox regression analysis identified uric acid-to-high-density lipoprotein cholesterol ratio, advanced lung cancer inflammation index, and tumor-node-metastasis classification stage as independent prognostic factors for postoperative survival in patients with hepatocellular carcinoma. A predictive nomogram incorporating these variables was developed and validated using calibration curves, time-dependent receiver operating characteristic analysis, and decision curve analysis. The results confirmed that the nomogram demonstrated superior predictive accuracy and greater net benefit compared with models based on any of the individual variables alone.ConclusionsUric acid-to-high-density lipoprotein cholesterol ratio may serve as a potential prognostic biomarker for postoperative survival in patients with hepatocellular carcinoma. The established nomogram may provide a practical tool for prognostic assessment in clinical practice.

目的评价尿酸与高密度脂蛋白胆固醇比值对肝癌患者术后生存的预测价值,并建立一种nomogram预后图,以辅助临床决策和患者管理。方法选取2011年5月至2023年1月在梅州人民医院行肝切除术的患者422例。使用R包“survminer”确定尿酸与高密度脂蛋白胆固醇比值的最佳临界值,并相应地将患者分为两组。采用Kaplan-Meier生存分析和Cox比例风险回归模型评估尿酸与高密度脂蛋白胆固醇比值的预后意义。随后构建了预后nomogram。采用一致性指数评估nomogram预测性能,通过决策曲线分析评估nomogram临床应用价值。结果尿酸与高密度脂蛋白胆固醇比值的最佳临界值为253.9。生存分析显示,低尿酸与高密度脂蛋白胆固醇比值组的生存期明显延长。Cox回归分析发现,尿酸与高密度脂蛋白胆固醇比值、晚期肺癌炎症指数、肿瘤-淋巴结-转移分类分期是影响肝细胞癌患者术后生存的独立预后因素。利用校准曲线、随时间变化的接收机工作特性分析和决策曲线分析,开发并验证了包含这些变量的预测nomogram。结果证实,与单独基于任何单个变量的模型相比,nomogram表现出更高的预测准确性和更大的净效益。结论尿酸与高密度脂蛋白胆固醇比值可作为肝细胞癌患者术后生存的潜在预后生物标志物。在临床实践中,所建立的nomogram可作为一种实用的预后评估工具。
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引用次数: 0
Endoscopic-assisted nasal bone reduction for nasal bone fracture as a practical outpatient approach: A retrospective case series. 内镜辅助鼻骨复位治疗鼻骨骨折作为一种实用的门诊方法:回顾性病例系列。
IF 1.5 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2026-03-01 Epub Date: 2026-03-16 DOI: 10.1177/03000605261424044
Woo Sub Shim, Seung Heon Kang, Hahn Jin Jung

ObjectiveThis study aimed to evaluate the clinical efficacy and safety of endoscope-assisted nasal bone reduction performed in the outpatient clinic and determine whether this technique offers advantages over conventional closed reduction methods.MethodsWe conducted a retrospective review of 64 patients who underwent endoscope-assisted nasal bone reduction between May 2022 and December 2024 at a tertiary university hospital. Patient demographics, injury characteristics, surgical details, and postoperative outcomes were analyzed. Outcomes were assessed via clinical examination, facial computed tomography, and patient-reported satisfaction scores at 3 months postoperatively.ResultsAll procedures were successfully performed under local anesthesia without the need for general anesthesia or conversion to open surgery. Direct endoscopic visualization allowed real-time confirmation of fracture reduction. At 3 months, 87.5% of the patients had achieved favorable nasal symmetry, and >80% reported "excellent" satisfaction. The revision rate was 14.1%, and the incidence of saddle nose deformity was 1.6%. No significant complications such as infection, persistent bleeding, or major deformities were observed.ConclusionsEndoscope-assisted nasal bone reduction provides advantages over traditional closed reduction in terms of enhanced accuracy, improved patient satisfaction, and feasibility of early intervention in the outpatient setting.

目的本研究旨在评价门诊内镜辅助鼻骨复位的临床疗效和安全性,并确定该技术是否优于传统的闭合复位方法。方法回顾性分析某三级大学附属医院于2022年5月至2024年12月行鼻内窥镜辅助鼻骨复位术的64例患者。分析患者人口统计学、损伤特征、手术细节和术后结果。通过临床检查、面部计算机断层扫描和术后3个月患者报告的满意度评分来评估结果。结果所有手术均在局麻下成功完成,无需全麻或转开腹手术。直接内镜可视化可以实时确认骨折复位。在3个月时,87.5%的患者获得了良好的鼻对称,bb80 %的患者表示“非常”满意。修复率为14.1%,鞍鼻畸形发生率为1.6%。无明显并发症,如感染、持续出血或重大畸形。结论内镜辅助鼻骨复位在准确性、患者满意度和早期干预可行性方面优于传统的闭式复位。
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引用次数: 0
The role of multimodality imaging in diagnosing an adult-type anomalous origin of the left coronary artery from the pulmonary artery: A case report. 多模态成像在诊断成人型左冠状动脉起源于肺动脉的异常中的作用:1例报告。
IF 1.5 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2026-03-01 Epub Date: 2026-03-12 DOI: 10.1177/03000605261426711
Li Xinghui, Wang Xin, Zhang Xiaoming, Qin Yahong, Wei Rong

Anomalous origin of the left coronary artery from the pulmonary artery is a rare congenital coronary anomaly. This case report describes an adult male with anomalous origin of the left coronary artery from the pulmonary artery, in whom transthoracic echocardiography revealed mitral valve prolapse without apparent anomalies of the coronary ostia. The definitive anatomical diagnosis was established using invasive coronary angiography and coronary computed tomography angiography. This case underscores the indispensable value of multimodality imaging in the diagnosis of anomalous origin of the left coronary artery from the pulmonary artery.

左冠状动脉异常起源于肺动脉是一种罕见的先天性冠状动脉异常。本病例报告描述一名左冠状动脉起源于肺动脉异常的成年男性,经胸超声心动图显示二尖瓣脱垂,冠状动脉开口无明显异常。最终的解剖诊断是通过有创冠状动脉造影和冠状动脉计算机断层造影建立的。本病例强调了多模态成像在诊断左冠状动脉与肺动脉异常起源时不可或缺的价值。
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引用次数: 0
Clinical characterization of 39 patients with autoimmune pulmonary alveolar proteinosis. 自身免疫性肺泡蛋白沉积症39例临床分析
IF 1.5 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2026-03-01 Epub Date: 2026-03-08 DOI: 10.1177/03000605261424604
Yan-Fen Zhong, Xiao Lv
<p><p>ObjectivesWe aimed to explore the clinical manifestations, examination findings, diagnostic methods, and treatment efficacy of patients with pulmonary alveolar proteinosis and improve clinicians' understanding of this disease.MethodsWe retrospectively analyzed the clinical characteristics of 39 patients diagnosed with autoimmune pulmonary alveolar proteinosis admitted to Fuzhou Pulmonary Hospital, Fujian Province, from August 2013 to December 2024. We also analyzed the correlations between lactate dehydrogenase, arterial partial oxygen pressure, and pulmonary alveolar arterial oxygen differential pressure, lung function, tumor markers, blood lipids, and disease severity. Furthermore, the relevant literature was reviewed.ResultsOf the 39 patients, 23 were male, 16 were female, 18 were smokers, and 11 had pneumoconiosis. The main clinical symptoms were cough and shortness of breath. The typical manifestations of chest computed tomography were "map-like" changes or "crazy-paving pattern". The main manifestations of pulmonary function were diffusion dysfunction and restricted ventilation dysfunction. pulmonary alveolar proteinosis disease severity score was positively correlated with lactate dehydrogenase, pulmonary alveolar arterial oxygen differential pressure and the tumor markers carcinoembryonic antigen, cytokeratin 19 fragment antigen 21-1, neuron specific enolase, and carbohydrate antigen 153 (<i>r </i>=<i> </i>0.689, <i>P </i><<i> </i>0.01; <i>r </i>=<i> </i>0.801, <i>P </i><<i> </i>0.01; <i>r </i>=<i> </i>0.414, <i>P </i><<i> </i>0.05; <i>r </i>=<i> </i>0.570, <i>P </i><<i> </i>0.01; <i>r </i>=<i> </i>0.488, <i>P </i><<i> </i>0.01; and <i>r </i>=<i> </i>0.415, <i>P </i><<i> </i>0.05, respectively). The disease severity score was negatively correlated with the percentage of arterial partial oxygen pressure and carbon monoxide dispersion to the predicted value (<i>r = </i>-0.952, <i>r = </i>-0.554, <i>P </i><<i> </i>0.01). Lactate dehydrogenase was negatively correlated with carbon monoxide dispersion to the predicted value (<i>r = </i>-0.522, <i>P</i> < 0.01). Arterial partial oxygen pressure was negatively correlated with carcinoembryonic antigen, cytokeratin 19 fragment antigen 21-1, neuron specific enolase, and carbohydrate antigen 153 (<i>r = </i>-0.479, <i>r = </i>-0.607, <i>r = </i>-0.598, and <i>r = </i>-0.425, respectively, <i>P </i><<i> </i>0.01). In contrast, arterial partial oxygen pressure was positively correlated with carbon monoxide dispersion to the predicted value (<i>r </i>=<i> </i>0.616, <i>P </i><<i> </i>0.01). pulmonary alveolar arterial oxygen differential pressure was positively correlated with carcinoembryonic antigen, cytokeratin 19 fragment antigen 21-1, neuron specific enolase, and carbohydrate antigen 153 (<i>r </i>=<i> </i>0.529, <i>P </i><<i> </i>0.01; <i>r </i>=<i> </i>0.546, <i>P </i><<i> </i>0.01; <i>r </i>=<i> </i>0.554, <i>P </i><<i> </i>0.01; and <i>r </i>=<i> </i>0.348, <i>P </i><<i> </i>0.05, respec
目的探讨肺泡蛋白沉积症患者的临床表现、检查结果、诊断方法及治疗效果,提高临床医生对此病的认识。方法回顾性分析2013年8月至2024年12月福建省福州市肺科医院收治的39例自身免疫性肺泡蛋白沉积症患者的临床特点。我们还分析了乳酸脱氢酶、动脉分氧压、肺泡动脉氧差压、肺功能、肿瘤标志物、血脂和疾病严重程度之间的相关性。并对相关文献进行了综述。结果39例患者中,男性23例,女性16例,吸烟18例,尘肺11例。主要临床症状为咳嗽、呼吸短促。胸部ct典型表现为“地图样”改变或“疯狂铺路样”。肺功能主要表现为弥散功能障碍和限制性通气功能障碍。肺泡蛋白沉积症疾病严重程度评分与乳酸脱氢酶、肺泡动脉氧差压及肿瘤标志物癌胚抗原、细胞角蛋白19片段抗原21-1、神经元特异性烯醇化酶、碳水化合物抗原153呈正相关(r = 0.689, P 0.01; r = 0.801, P 0.01; r = 0.414, P 0.05; r = 0.570, P 0.01; r = 0.488, P 0.01; r = 0.415, P 0.05)。疾病严重程度评分与动脉氧分压、一氧化碳弥散度占预测值的比例呈负相关(r = -0.952, r = -0.554, P 0.01)。乳酸脱氢酶与一氧化碳弥散度预测值呈负相关(r = -0.522, P = -0.479, r = -0.607, r = -0.598, r = -0.425, P = 0.01)。动脉氧分压与一氧化碳弥散度预测值呈正相关(r = 0.616, p0.01)。肺泡动脉血氧差压与癌胚抗原、细胞角蛋白19片段抗原21-1、神经元特异性烯醇化酶、碳水化合物抗原153呈正相关(r = 0.529, p0.01; r = 0.546, p0.01; r = 0.554, p0.01; r = 0.348, p0.05)。肺泡动脉氧差压与一氧化碳弥散度预测值呈负相关(r = -0.641, P
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引用次数: 0
Brain tumor detection on magnetic resonance imaging scans using the artificial intelligence-based You Only Look Once algorithm. 使用基于人工智能的You Only Look Once算法对磁共振成像扫描进行脑肿瘤检测。
IF 1.5 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2026-03-01 Epub Date: 2026-03-23 DOI: 10.1177/03000605261422820
Ronghui Zheng, Shanshan Cai

ObjectiveTo address challenges such as blurred boundaries and irregular shapes in brain tumor magnetic resonance imaging scans, we developed a lightweight detection framework to enhance automated diagnosis and meet real-time clinical requirements.MethodsWe proposed an improved You Only Look Once version 12 (YOLOv12n)-based model featuring three modules. First, the Attention-based C2f with Frequency-domain Feed-Forward Network (A2C2f-DFFN) module was incorporated into the backbone network; it combined an attention mechanism with a frequency-domain feedforward network to enhance global context modeling and detailed feature reconstruction. Second, the C2f with Token Statistics Self-Attention and Dynamic Tanh (C2TSSA-DYT) module was employed in the feature fusion neck; it utilized statistical self-attention and a dynamic Tanh activation function to improve robustness in complex backgrounds. Finally, the dynamic upsampling operator was adopted in the feature reconstruction stage; it dynamically generated sampling weights to effectively prevent boundary blurring and detail loss.ResultsOn the Kaggle brain tumor dataset, our method achieved 93.2% precision, 88.4% recall, and 94.1% mean average precision at IoU threshold 0.5 (mAP@0.5), surpassing YOLOv12n and other lightweight models. It showed excellent performance in patients with glioma and pituitary tumor cases using only 6.0 Giga Floating-point Operations Per Second (GFLOPs) and 2.76 M parameters for efficient real-time inference.ConclusionThe enhanced YOLOv12n framework proposed in this study achieved good balance between accuracy and efficiency in brain tumor detection tasks, demonstrating strong robustness, which makes it suitable for use in clinical computer-aided diagnosis systems.

目的针对脑肿瘤磁共振成像扫描中边界模糊、形状不规则等问题,开发一种轻型检测框架,增强脑肿瘤的自动化诊断能力,满足临床实时诊断需求。方法提出了一个改进的You Only Look Once version 12 (YOLOv12n)模型,该模型包含三个模块。首先,在骨干网中引入基于注意力的C2f频域前馈网络(A2C2f-DFFN)模块;该方法将注意机制与频域前馈网络相结合,增强了全局上下文建模和细节特征重建。其次,在特征融合颈部采用带有令牌统计自关注和动态Tanh的C2f (c2tsa - dyt)模块;它利用统计自注意和动态Tanh激活函数来提高复杂背景下的鲁棒性。最后,在特征重构阶段采用动态上采样算子;动态生成采样权值,有效防止边界模糊和细节丢失。结果在Kaggle脑肿瘤数据集上,该方法在IoU阈值0.5 (mAP@0.5)下的准确率为93.2%,召回率为88.4%,平均准确率为94.1%,优于YOLOv12n等轻量级模型。该算法在神经胶质瘤和垂体瘤患者中表现优异,仅使用每秒6.0千兆浮点运算(GFLOPs)和2.76 M个参数进行有效的实时推断。结论本研究提出的增强型YOLOv12n框架在脑肿瘤检测任务中实现了准确性和效率的良好平衡,具有较强的鲁棒性,适合应用于临床计算机辅助诊断系统。
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引用次数: 0
Temporal trends and projections in the global burden of congenital genitourinary anomalies from 1990 to 2021: A cross-sectional study. 1990年至2021年全球先天性泌尿生殖系统异常负担的时间趋势和预测:一项横断面研究
IF 1.5 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2026-03-01 Epub Date: 2026-03-11 DOI: 10.1177/03000605261426179
Siyang Xu, Hua Zhu, Cheng Shen, Bing Zheng, Wei Zhang

ObjectiveThis study used Global Burden of Disease 2021 data to assess the global, regional, and national burden of congenital genitourinary anomalies across 204 countries and territories from 1990 to 2021.MethodsThis cross-sectional study estimated the burden of congenital genitourinary anomalies using prevalence, morbidity, mortality, disability-adjusted life years, and age-standardized rates, including the age-standardized incidence rate, age-standardized death rate, and age-standardization rate. Incidence and prevalence were derived from DisMod-MR 2.1, and a Bayesian age-period-cohort model projected trends until 2035. Analyses were stratified by sex, age, and socio-demographic index.ResultsFrom 1990 to 2021, the global age-standardized prevalence of female and male congenital genitourinary anomalies increased annually by 0.72% and 0.51%, respectively, with rising disability-adjusted life years across all sociodemographic index regions. Male congenital genitourinary anomalies consistently had higher age-standardized death rates, incidence rates, and age-standardization rates than female cases. By 2021, congenital genitourinary anomalies caused approximately 9700 deaths and affected approximately 5.2 million people, while age-standardized incidence and death rates slightly declined over three decades (age-standardized incidence rate: 18.21 to 17.69 per 100,000; age-standardized death rate: 0.15 to 0.12 per 100,000). Projections to 2035 show continued declines in incidence and death rates.ConclusionsDespite falling morbidity and mortality, congenital genitourinary anomalies remain a severe global burden. Governments and the public must recognize its gravity and prioritize targeted reproductive health initiatives.

目的:本研究使用2021年全球疾病负担数据,评估1990年至2021年204个国家和地区先天性泌尿生殖系统异常的全球、区域和国家负担。方法本横断面研究使用患病率、发病率、死亡率、残疾调整生命年和年龄标准化率(包括年龄标准化发病率、年龄标准化死亡率和年龄标准化率)估计先天性泌尿生殖系统异常的负担。发病率和患病率来自dismod - mr2.1,贝叶斯年龄-时期队列模型预测了到2035年的趋势。分析按性别、年龄和社会人口指数分层。结果从1990年到2021年,全球女性和男性先天性泌尿生殖系统异常的年龄标准化患病率分别以每年0.72%和0.51%的速度增长,所有社会人口指数区域的残疾调整生命年都在上升。男性先天性泌尿生殖系统异常的年龄标准化死亡率、发病率和年龄标准化率始终高于女性病例。到2021年,先天性泌尿生殖系统异常造成约9700人死亡,影响约520万人,而年龄标准化发病率和死亡率在三十年中略有下降(年龄标准化发病率:每10万人18.21至17.69人;年龄标准化死亡率:每10万人0.15至0.12人)。到2035年的预测显示,发病率和死亡率将继续下降。结论尽管发病率和死亡率下降,先天性泌尿生殖系统异常仍然是一个严重的全球负担。各国政府和公众必须认识到其严重性,并优先考虑有针对性的生殖健康倡议。
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引用次数: 0
A novel homozygous inactivating mutation of the calcium-sensing receptor causing familial hypocalciuric hypercalcemia complicated with primary hyperparathyroidism due to parathyroid adenoma: A case report. 一种新的钙敏感受体纯合失活突变导致家族性低钙血症高钙血症合并甲状旁腺腺瘤引起的原发性甲状旁腺功能亢进:1例报告。
IF 1.5 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2026-03-01 Epub Date: 2026-03-19 DOI: 10.1177/03000605261429307
Xiaoran Tao, Mengsha Yin, Xiaokun Gang

Familial hypocalciuric hypercalcemia is an autosomal dominant genetic disorder characterized by mild to moderate hypercalcemia, mild hypermagnesemia, and normal or inappropriately elevated parathyroid hormone levels. Familial hypocalciuric hypercalcemia 1 is the most prevalent form of familial hypocalciuric hypercalcemia and is typically caused by heterozygous loss-of-function mutations in the calcium-sensing receptor (CaSR) gene. Homozygous CaSR mutations are more commonly associated with neonatal severe primary hyperparathyroidism. We report the case of a female patient in her early 40s harboring a novel homozygous frameshift mutation in the CaSR gene (c.2603_2604insTT), resulting in familial hypocalciuric hypercalcemia 1. The patient presented with persistent hypocalciuria, hypercalcemia, and primary hyperparathyroidism, along with a family history of consanguinity. This case highlights the phenotypic variability associated with CaSR mutations and broadens the clinical spectrum of homozygous CaSR-related disorders. Increased clinical awareness of atypical genetic presentations is essential to avoid misdiagnosis and to ensure appropriate management of patients with familial disorders of calcium homeostasis.

家族性低钙血症是一种常染色体显性遗传病,其特征为轻度至中度高钙血症、轻度高镁血症和甲状旁腺激素水平正常或不适当升高。家族性低钙性高钙血症1是家族性低钙性高钙血症最常见的形式,通常由钙敏感受体(CaSR)基因的杂合性功能缺失突变引起。纯合子CaSR突变更常与新生儿严重原发性甲状旁腺功能亢进症相关。我们报告了一例40岁出头的女性患者,其CaSR基因(c.2603_2604insTT)携带一种新型纯合移码突变,导致家族性低钙血症高钙血症1。患者表现为持续性低钙尿、高钙血症和原发性甲状旁腺功能亢进,并有家族血亲史。该病例突出了与CaSR突变相关的表型变异性,拓宽了纯合子CaSR相关疾病的临床谱。提高对非典型遗传表现的临床认识对于避免误诊和确保对家族性钙稳态紊乱患者的适当管理至关重要。
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引用次数: 0
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Journal of International Medical Research
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