📄 Category

medicine

13909 papers

📄 medicine

Whole genome sequencing identified a novel copy number variant on TPK1 gene in a Chinese family with thiamine metabolism dysfunction syndrome 5

This study reports a novel TPK1 tandem duplication identified via whole genome sequencing in a Chinese family with thiamine metabolism dysfunction syndrome 5, highlighting the diagnostic superiority of WGS for detecting copy number variants and emphasizing the critical need for high-dose, lifelong thiamine therapy to prevent neurological decline.

Ruojie He, Jiayi He, Sen Huang, Xiaoli Yao2026-10-11
📄 medicine

Mental distress modifies the association between cost-related barriers and cervical cancer screening adherence: interaction and stratified analyses of BRFSS 2024

Analysis of 2024 BRFSS data reveals that both cost-related barriers and mental distress are independently associated with reduced cervical cancer screening adherence among U.S. women, suggesting that integrated financial and mental health interventions could improve screening uptake.

Li Liu, Xin Du, Yangdan Zhao, Haijuan Chen, Chenglin Zhang2026-10-11
📄 medicine

The Effect of Percutaneous Auricular Vagus Nerve Stimulation on Postoperative Delirium in Elderly Patients Undergoing Colorectal Cancer Surgery

This study demonstrates that transcutaneous auricular vagus nerve stimulation effectively reduces the incidence of postoperative delirium in elderly colorectal cancer surgery patients, likely by inhibiting central nervous system injury markers and pro-inflammatory cytokines.

Ying Zhu, Juan Fan, Xiaowen Yan, Tingxue Wang, Hongru Liu, Jie Yao2026-10-11
📄 medicine

Abrupt Onset of Crescentic IgA Nephropathy Superimposed on Glycogen Storage Disease Type Ia: A 15-Year Longitudinal Pediatric Case Report

This 15-year longitudinal case report describes the first pediatric instance of abrupt-onset crescentic IgA nephropathy superimposed on glycogen storage disease type Ia, demonstrating that such atypical presentations require prompt renal biopsy and a dual-track therapeutic approach combining metabolic control with targeted immunosuppression to achieve durable clinical remission.

Xu Zhang, Fengjie Yang, Yaping Liu, Yu Zhang, Jianhua Zhou2026-10-11
📄 medicine

Preoperative endoscopic ultrasonography wall-layer stratification and bowel surgical management in rectosigmoid deep infiltrating endometriosis: a single-center retrospective study

This single-center retrospective study of 25 patients demonstrates that higher preoperative endoscopic ultrasonography (EUS) wall-layer grades in rectosigmoid deep infiltrating endometriosis are significantly associated with more extensive bowel surgical management, suggesting EUS is a valuable tool for surgical planning and counseling despite not being a standalone indicator for segmental resection.

Weina Kong, Jia Xi, Boyi Ma, Hong Yang, Shuhua Zhao2026-10-11
📄 medicine

Early deep-RASS burden and in-hospital mortality in mechanically ventilated neurocritical patients: a retrospective landmark study

This retrospective landmark study demonstrates that a higher burden of deep sedation (RASS ≤ −3) within the first 72 hours of mechanical ventilation is significantly associated with increased in-hospital mortality in neurocritical patients, a finding that was directionally consistent across both MIMIC-IV and eICU cohorts.

Jie Lu, Xiao Chen, Weikang Xing2026-10-11
📄 medicine

Cephalothoracoomphalopagus Tetrabrachius Tetrapus Conjoined Twins: An Extremely Rare Case Report

This case report describes an extremely rare instance of cephalothoracoomphalopagus tetrabrachius tetrapus conjoined twins diagnosed via advanced ultrasound at 29 weeks, who were delivered at 33 weeks but died within an hour of birth, underscoring the critical importance of routine antenatal care for early diagnosis and informed family counseling.

Fransiscus Octavius Hari Prasetyadi, Agung Sunarko Putra, Jonathan Kevin Djuanda, Rianto Rianto, Bian Rahmadi, Cecilia P (…)2026-10-11
📄 medicine

Prevalence and Early-Life Factors Associated with Molar–Incisor Hypomineralization in Children in Northwest China: A Population- Based Cross-Sectional Study

This population-based cross-sectional study in Shaanxi Province, China, reveals a high prevalence (22.16%) of molar–incisor hypomineralization among 7- to 10-year-old children, with significant geographic variations and strong associations identified between the condition and specific early-life factors such as amoxicillin exposure and maternal diarrhea during the third trimester.

Pingneng Zhang, Shijie Zhu, Yuyang Gao, Peidi Huang, Lei Zhang, Jing Zhang, Jiangang Tian, Ruizhe Huang, Bin Zhang2026-10-11
📄 medicine

Longitudinal Pulmonary Outcomes After Posterior Spinal Fusion in Duchenne Muscular Dystrophy: A Retrospective Cohort Study

This retrospective cohort study of nonambulatory patients with Duchenne muscular dystrophy found that while posterior spinal fusion did not significantly alter early pulmonary function, forced vital capacity declined by two years post-surgery, with greater degrees of scoliosis correction paradoxically associated with larger reductions in pulmonary function, suggesting that the procedure's primary benefits lie in functional and quality-of-life improvements rather than pulmonary preservation.

Rami Rajjoub, James Caid Kirven, Mutaleeb Shobode, Ryan Goodwin, Reid Chambers, Allan Beebe, Daniel DeGenova, Kirsten Tu (…)2026-10-11