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Nanopore long-read sequencing reveals a novel 3.4-kb HBB deletion causing β-thalassemia in prenatal diagnosis: a case report. 纳米孔长读测序揭示了一种新的3.4 kb HBB缺失导致产前诊断中的β-地中海贫血:一个病例报告。
IF 6.4 4区 医学 Q1 MEDICINE, GENERAL & INTERNAL Pub Date : 2026-01-14 DOI: 10.1093/qjmed/hcag016
Lijuan Zhong, Xiangyuan Huang, Yao Li, Rui Zhang
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引用次数: 0
Acute versus chronic arsenic poisoning. 急性与慢性砷中毒。
IF 6.4 4区 医学 Q1 MEDICINE, GENERAL & INTERNAL Pub Date : 2026-01-13 DOI: 10.1093/qjmed/hcag002
Hung-Kai Lo, Szu-Chi Chen, Po-Jen Hsiao
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引用次数: 0
Cerebral venous sinus thrombosis: diagnostic clues on non-contrast CT. 脑静脉窦血栓形成:非对比CT诊断线索。
IF 6.4 4区 医学 Q1 MEDICINE, GENERAL & INTERNAL Pub Date : 2026-01-13 DOI: 10.1093/qjmed/hcag018
Keizo Tanitame
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引用次数: 0
Impact of Enhanced External Counterpulsation Treatment on Cerebral Blood Flow and Functional Outcomes in Ischemic Stroke Patients: A Systematic Review and Meta-analysis. 强化体外反搏治疗对缺血性脑卒中患者脑血流和功能结局的影响:一项系统综述和荟萃分析
IF 6.4 4区 医学 Q1 MEDICINE, GENERAL & INTERNAL Pub Date : 2026-01-12 DOI: 10.1093/qjmed/hcag010
Hub E Fatima, Yu-Jung Cheng, Li-Wei Chou

Enhanced external counterpulsation (EECP) is a non-invasive circulatory support device that has been shown to improve perfusion in cardiovascular diseases; however, its effectiveness in ischemic stroke is yet to be explored. This systematic review and meta-analysis were proposed to evaluate the effectiveness of EECP on cerebral blood flow (CBF) and other functional outcomes in ischemic stroke patients. PubMed, CNKI, Web of Science, Embase, CINAHL, Wangfang, Chinese Medicine, and Sinomed databases were searched up to June 2025. Studies evaluating the effect of EECP on CBF, daily living activities, disability degree, and neurological impairment. Data were pooled using RStudio (version 4.5.1) with both a common-effect model and a Hartung-Knapp (HK) random-effects model, applying the generic inverse variance method. Fifteen studies comprising 506 participants were included. While the common-effect model suggested a statistically significant improvement in CBF, this effect was no longer significant after applying the more conservative HK adjustment (MD = 0.15; 95% CI: -0.13 to 0.44; p = 0.1485). This indicates that current evidence supports a possible, but not definitive, effect of EECP on CBF. EECP showed significant improvement in daily living activities (MD = 23.53; 95% CI: 14.65 to 32.40; p = 0.0002), disability degree (MD = -1.88; 95% CI: -2.64 to -1.11; p = 0.0009), and neurological function (MD = -5.42; 95% CI: -8.90 to -1.94; p = 0.0060). High heterogeneity was observed across outcomes. Overall, EECP shows promising potential as an adjunct rehabilitation therapy for ischemic stroke, particularly in improving functional outcomes. However, the non-significant CBF findings under the HK model and the substantial heterogeneity highlight the need for rigorously designed, high-quality studies to better define EECP's clinical efficacy and optimal treatment protocols.

增强体外反搏(EECP)是一种非侵入性循环支持装置,已被证明可以改善心血管疾病的灌注;然而,其在缺血性脑卒中中的有效性还有待探索。本系统综述和荟萃分析旨在评估EECP对缺血性脑卒中患者脑血流量(CBF)和其他功能结局的有效性。检索截止到2025年6月的PubMed、CNKI、Web of Science、Embase、CINAHL、Wangfang、Chinese Medicine、Sinomed等数据库。评估EECP对脑血流、日常生活活动、残疾程度和神经功能损害影响的研究。使用RStudio(版本4.5.1),采用共同效应模型和Hartung-Knapp (HK)随机效应模型,采用通用逆方差法对数据进行汇总。纳入了15项研究,包括506名参与者。虽然共同效应模型显示CBF有统计学意义上的改善,但在应用更保守的HK调整后,这种效果不再显著(MD = 0.15; 95% CI: -0.13至0.44;p = 0.1485)。这表明目前的证据支持EECP对CBF的可能影响,但不是确定的。EECP对日常生活活动(MD = 23.53; 95% CI: 14.65 ~ 32.40; p = 0.0002)、残疾程度(MD = -1.88; 95% CI: -2.64 ~ -1.11; p = 0.0009)和神经功能(MD = -5.42; 95% CI: -8.90 ~ -1.94; p = 0.0060)均有显著改善。观察到各结果的高度异质性。总的来说,EECP作为缺血性卒中的辅助康复治疗显示出很大的潜力,特别是在改善功能预后方面。然而,在HK模型下的不显著CBF发现和大量的异质性表明,需要严格设计、高质量的研究来更好地定义EECP的临床疗效和最佳治疗方案。
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引用次数: 0
Early but Transient Symptomatic Benefit of Intranasal Bencycloquidium Bromide in Adults with the Common Cold. 鼻内溴化乙百科对成人普通感冒的早期但短暂的症状益处。
IF 6.4 4区 医学 Q1 MEDICINE, GENERAL & INTERNAL Pub Date : 2026-01-09 DOI: 10.1093/qjmed/hcag015
Chien-Han Tsao, Shiuan-Chih Chen
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引用次数: 0
Breath Volatile Organic Compound Testing in Colorectal Cancer: Diagnostic Trade-offs and Clinical Implications. 结直肠癌的呼吸挥发性有机化合物检测:诊断权衡和临床意义。
IF 6.4 4区 医学 Q1 MEDICINE, GENERAL & INTERNAL Pub Date : 2026-01-08 DOI: 10.1093/qjmed/hcag012
Shiuan-Chih Chen, Chun-Chieh Chen
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引用次数: 0
Response to: Breath Volatile Organic Compound Testing in Colorectal Cancer. 对结直肠癌呼气挥发性有机化合物检测的回应。
IF 6.4 4区 医学 Q1 MEDICINE, GENERAL & INTERNAL Pub Date : 2026-01-08 DOI: 10.1093/qjmed/hcag014
Xiang Li
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引用次数: 0
Racial/Ethnic Disparities in Non-Small Cell Lung Cancer Mortality in the U.S., 2000-2020: A Population-Based Study. 2000-2020年美国非小细胞肺癌死亡率的种族差异:一项基于人群的研究
IF 6.4 4区 医学 Q1 MEDICINE, GENERAL & INTERNAL Pub Date : 2026-01-08 DOI: 10.1093/qjmed/hcag011
Yuze Yin, Yinyan Gao, Hang Yi, Yan Wang, Guochao Zhang, Yousheng Mao, Jie Wang

Background: Non-small cell lung cancer (NSCLC) remains the leading cause of cancer-related deaths in the U.S. While racial and ethnic disparities in outcomes are known, long-term trends and the specific contribution of clinical and socioeconomic factors remain unclear.

Aim: To quantify the long-term racial/ethnic disparities in NSCLC mortality (2000-2020) and assess the relative contribution of modifiable clinical and socioeconomic factors to these inequities.

Design: A retrospective population-based cohort study.

Methods: Data for 548,526 NSCLC patients diagnosed between 2000 and 2020 were extracted from the Surveillance, Epidemiology, and End Results (SEER) database. Cumulative incidence of death was analyzed using the Fine and Gray model. Multivariable cause-specific hazard regression quantified the contribution of stage, tumor grade, treatment status, and household income to racial/ethnic disparities.

Results: The five-year cumulative mortality rate was highest among Black patients (83.5%), followed by American Indian/Alaska Native (AI/AN , 82.0%), White (79.5%), Hispanic (79.5%), and Asian or Pacific Islander (API , 77.1%) patients. Cancer-directed surgery, stage at diagnosis, and household income were significant contributors to disparities, explaining up to 29.04% of Black-White and 19.97% of AI/AN-White disparities in all-cause mortality. Relative disparities decreased over time, but absolute disparities widened, particularly between Black and White patients.

Conclusions: Significant racial and ethnic disparities in NSCLC mortality have persisted over the past two decades. Addressing modifiable factors like late-stage diagnosis and ensuring equitable access to high-quality, cancer-directed treatments are essential steps toward promoting health equity.s.

背景:在美国,非小细胞肺癌(NSCLC)仍然是导致癌症相关死亡的主要原因。虽然在结果上的种族差异是已知的,但长期趋势以及临床和社会经济因素的具体贡献仍不清楚。目的:量化非小细胞肺癌死亡率的长期种族/民族差异(2000-2020年),并评估可改变的临床和社会经济因素对这些不平等的相对贡献。设计:一项基于人群的回顾性队列研究。方法:从监测、流行病学和最终结果(SEER)数据库中提取2000年至2020年间诊断的548,526例非小细胞肺癌患者的数据。累积死亡率采用Fine and Gray模型进行分析。多变量病因特异性风险回归量化了分期、肿瘤分级、治疗状况和家庭收入对种族/民族差异的影响。结果:黑人患者5年累积死亡率最高(83.5%),其次是美洲印第安人/阿拉斯加原住民(AI/AN, 82.0%)、白人(79.5%)、西班牙裔(79.5%)和亚洲或太平洋岛民(API, 77.1%)。癌症导向手术、诊断阶段和家庭收入是造成差异的重要因素,可解释29.04%的黑人-白人和19.97%的AI/ an -白人全因死亡率差异。随着时间的推移,相对差异减小,但绝对差异扩大,尤其是在黑人和白人患者之间。结论:在过去二十年中,非小细胞肺癌死亡率的显著种族差异持续存在。解决可改变的因素,如晚期诊断和确保公平获得高质量、针对癌症的治疗,是促进健康平等的重要步骤。
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引用次数: 0
Cytomegalovirus colitis in a woman with Sheehan syndrome. 希恩综合征女性巨细胞病毒性结肠炎1例。
IF 6.4 4区 医学 Q1 MEDICINE, GENERAL & INTERNAL Pub Date : 2026-01-07 DOI: 10.1093/qjmed/hcag009
Chen-Yu Wang, Te-Chun Shen, Te-Hung Chen

Background: Cytomegalovirus (CMV) colitis is typically associated with impaired cellular immunity, but has been increasingly recognized in elderly individuals or those with subtle immune dysfunction. Sheehan syndrome, a form of postpartum hypopituitarism, leads to chronic hormonal deficiencies and lifelong glucocorticoid replacement, which may contribute to mild but clinically relevant immune vulnerability. Reports of CMV colitis in patients with Sheehan syndrome are extremely rare.

Case presentation: We report a 70-year-old woman who presented with several days of right lower quadrant abdominal pain and diarrhea. Physical examination and imaging revealed no evidence of acute appendicitis or other surgical conditions. Despite empirical antibiotic therapy, her symptoms persisted, prompting upper and lower endoscopy, which demonstrated multiple ulcerative lesions throughout the gastrointestinal tract. Histopathological examination with immunohistochemical staining confirmed CMV colitis. Further evaluation revealed long-standing Sheehan syndrome with secondary hypothyroidism, adrenal insufficiency, and suppressed gonadotropins. She had been receiving cortisone replacement for several years. The patient was treated with intravenous ganciclovir followed by oral valganciclovir, resulting in complete clinical resolution.

Discussion: This case highlights that CMV colitis can occur in older adults without classical immunosuppressive risk factors and that endocrine disorders such as Sheehan syndrome may contribute to subtle immune impairment. Chronic hypopituitarism combined with long-term glucocorticoid replacement may create a permissive environment for CMV development. Clinicians should consider CMV colitis when evaluating persistent gastrointestinal symptoms in elderly patients with endocrine dysfunction or chronic corticosteroid use.

背景:巨细胞病毒(CMV)结肠炎通常与细胞免疫功能受损有关,但在老年人或有轻微免疫功能障碍的人群中越来越多地被认识到。希恩综合征是产后垂体功能减退症的一种形式,可导致慢性激素缺乏和终生糖皮质激素替代,这可能导致轻度但临床相关的免疫脆弱性。希恩综合征患者中巨细胞病毒结肠炎的报道极为罕见。病例介绍:我们报告了一位70岁的女性,她表现出几天的右下腹疼痛和腹泻。体格检查和影像学检查未发现急性阑尾炎或其他手术情况的证据。尽管经验性抗生素治疗,她的症状持续存在,促使上下内窥镜检查,显示整个胃肠道多发溃疡性病变。组织病理学检查免疫组化染色证实巨细胞病毒结肠炎。进一步的评估显示长期存在的希恩综合征伴继发性甲状腺功能减退、肾上腺功能不全和促性腺激素抑制。她接受可的松替代治疗已经好几年了。患者静脉注射更昔洛韦,随后口服缬更昔洛韦,临床完全好转。讨论:本病例强调,巨细胞病毒结肠炎可发生在无经典免疫抑制危险因素的老年人中,而内分泌紊乱如希恩综合征可能导致细微的免疫损伤。慢性垂体功能减退症合并长期糖皮质激素替代可能为巨细胞病毒的发展创造一个宽松的环境。临床医生在评估内分泌功能障碍或长期使用皮质类固醇的老年患者的持续性胃肠道症状时应考虑巨细胞病毒结肠炎。
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引用次数: 0
Eschar: A Diagnostic Beacon in Acute Undifferentiated Febrile Illness. 焦痂:急性未分化发热性疾病的诊断信标。
IF 6.4 4区 医学 Q1 MEDICINE, GENERAL & INTERNAL Pub Date : 2026-01-07 DOI: 10.1093/qjmed/hcag008
Atanu Chandra, Rupak Chatterjee, Sugata Dasgupta
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引用次数: 0
期刊
QJM: An International Journal of Medicine
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