1.Implication of newborn Short-chain Acyl-CoA dehydrogenase deficiency screening and follow-up in Hainan Province for newborn screening strategies.
Peizhen ZHAO ; Zhendong ZHAO ; Haizhu XU
Chinese Journal of Medical Genetics 2026;43(4):248-252
OBJECTIVE:
To elucidate the epidemiological characteristics and genetic variant profile of Short-chain acyl-CoA dehydrogenase deficiency (SCADD) among newborns from Hainan Province and evaluate its significance within the local neonatal disease screening panel.
METHODS:
A total of 84 184 newborns born in Hainan Province from February to December 2024 were included. Tandem mass spectrometry (MS/MS) was employed to detect butyrylcarnitine (C4) and propionylcarnitine (C3) levels in dried blood spots. Screening thresholds were set at C4 > 0.43 μ mol/L and C4/C3 ratio > 0.28. Suspected cases underwent confirmatory testing via urinary ethylmalonic acid analysis by gas chromatography-mass spectrometry and whole-exome sequencing for ACADS gene variants. This study was approved by the Medial Ethics Committee of the hospital (Ethics No.: HNWCMC-2024-55).
RESULTS:
Six SCADD cases (male-to-female ratio = 1:1) were diagnosed, with all carrying compound heterozygous variants at two loci, yielding a prevalence of 7.13 per 100,000 live births. Four known ACADS gene variants were identified, with both c.322G>A and c.625G>A detected at a frequency of 41.7%. Regular follow-up (as of January 2026) revealed that all diagnosed cases have remained asymptomatic with normal growth and development.
CONCLUSION
The prevalence of SCADD among newborns in Hainan Province is relatively high, with c.322G>A and c.625G>A as the hotspot variants in the region. Given the absence of clinical phenotypes in all screen-detected cases during long-term follow-up, it is recommended to remove this condition from the routine neonatal screening program for this region to reduce unnecessary anxiety and medical cost.
Humans
;
Infant, Newborn
;
Neonatal Screening/methods*
;
Female
;
Male
;
Lipid Metabolism, Inborn Errors/epidemiology*
;
Acyl-CoA Dehydrogenase/genetics*
;
China/epidemiology*
;
Follow-Up Studies
2.Influence of network latency and bandwidth on robot-assisted laparoscopic telesurgery: A pre-clinical experiment.
Ye WANG ; Qing AI ; Taoping SHI ; Yu GAO ; Bin JIANG ; Wuyi ZHAO ; Chengjun JIANG ; Guojun LIU ; Lifeng ZHANG ; Huaikang LI ; Fan GAO ; Xin MA ; Hongzhao LI ; Xu ZHANG
Chinese Medical Journal 2025;138(3):325-331
BACKGROUND:
Telesurgery has the potential to overcome spatial limitations for surgeons, which depends on surgical robot and the quality of network communication. However, the influence of network latency and bandwidth on telesurgery is not well understood.
METHODS:
A telesurgery system capable of dynamically adjusting image compression ratios in response to bandwidth changes was established between Beijing and Sanya (Hainan province), covering a distance of 3000 km. In total, 108 animal operations, including 12 surgical procedures, were performed. Total latency ranging from 170 ms to 320 ms and bandwidth from 15-20 Mbps to less than 1 Mbps were explored using designed surgical tasks and hemostasis models for renal vein and internal iliac artery rupture bleeding. Network latency, jitter, frame loss, and bit rate code were systemically measured during these operations. National Aeronautics and Space Administration Task Load Index (NASA-TLX) and a self-designed scale measured the workload and subjective perception of surgeons.
RESULTS:
All 108 animal telesurgeries, conducted from January 2023 to June 2023, were performed effectively over a total duration of 3866 min. The operations were completed with latency up to 320 ms and bandwidths as low as 1-5 Mbps. Hemostasis for vein and artery rupture bleeding models was effectively achieved under these low bandwidth conditions. The NASA-TLX results indicated that latency significantly impacted surgical performance more than bandwidth and image clarity reductions.
CONCLUSIONS
This telesurgery system demonstrated safety and reliability. A total of 320 ms latency is acceptable for telesurgery operations. Reducing image clarity can effectively mitigate the potential latency increase caused by decreased bandwidth, offering a new method to reduce the impact of latency on telesurgery.
Animals
;
Robotic Surgical Procedures/methods*
;
Laparoscopy/methods*
3.Guideline-driven clinical decision support for colonoscopy patients using the hierarchical multi-label deep learning method.
Junling WU ; Jun CHEN ; Hanwen ZHANG ; Zhe LUAN ; Yiming ZHAO ; Mengxuan SUN ; Shufang WANG ; Congyong LI ; Zhizhuang ZHAO ; Wei ZHANG ; Yi CHEN ; Jiaqi ZHANG ; Yansheng LI ; Kejia LIU ; Jinghao NIU ; Gang SUN
Chinese Medical Journal 2025;138(20):2631-2639
BACKGROUND:
Over 20 million colonoscopies are performed in China annually. An automatic clinical decision support system (CDSS) with accurate semantic recognition of colonoscopy reports and guideline-based is helpful to relieve the increasing medical burden and standardize the healthcare. In this study, the CDSS was built under a hierarchical-label interpretable classification framework, trained by a state-of-the-art transformer-based model, and validated in a multi-center style.
METHODS:
We conducted stratified sampling on a previously established dataset containing 302,965 electronic colonoscopy reports with pathology, identified 2041 patients' records representative of overall features, and randomly divided into the training and testing sets (7:3). A total of five main labels and 22 sublabels were applied to annotate each record on a network platform, and the data were trained respectively by three pre-training models on Chinese corpus website, including bidirectional encoder representations from transformers (BERT)-base-Chinese (BC), the BERT-wwm-ext-Chinese (BWEC), and ernie-3.0-base-zh (E3BZ). The performance of trained models was subsequently compared with a randomly initialized model, and the preferred model was selected. Model fine-tuning was applied to further enhance the capacity. The system was validated in five other hospitals with 3177 consecutive colonoscopy cases.
RESULTS:
The E3BZ pre-trained model exhibited the best performance, with a 90.18% accuracy and a 69.14% Macro-F1 score overall. The model achieved 100% accuracy in identifying cancer cases and 99.16% for normal cases. In external validation, the model exhibited favorable consistency and good performance among five hospitals.
CONCLUSIONS
The novel CDSS possesses high-level semantic recognition of colonoscopy reports, provides appropriate recommendations, and holds the potential to be a powerful tool for physicians and patients. The hierarchical multi-label strategy and pre-training method should be amendable to manage more medical text in the future.
Humans
;
Colonoscopy/methods*
;
Deep Learning
;
Decision Support Systems, Clinical
;
Female
;
Male
4.Safety and effectiveness of lecanemab in Chinese patients with early Alzheimer's disease: Evidence from a multidimensional real-world study.
Wenyan KANG ; Chao GAO ; Xiaoyan LI ; Xiaoxue WANG ; Huizhu ZHONG ; Qiao WEI ; Yonghua TANG ; Peijian HUANG ; Ruinan SHEN ; Lingyun CHEN ; Jing ZHANG ; Rong FANG ; Wei WEI ; Fengjuan ZHANG ; Gaiyan ZHOU ; Weihong YUAN ; Xi CHEN ; Zhao YANG ; Ying WU ; Wenli XU ; Shuo ZHU ; Liwen ZHANG ; Naying HE ; Weihuan FANG ; Miao ZHANG ; Yu ZHANG ; Huijun JU ; Yaya BAI ; Jun LIU
Chinese Medical Journal 2025;138(22):2907-2916
INTRODUCTION:
Lecanemab has shown promise in treating early Alzheimer's disease (AD), but its safety and efficacy in Chinese populations remain unexplored. This study aimed to evaluate the safety and 6-month clinical outcomes of lecanemab in Chinese patients with mild cognitive impairment (MCI) or mild AD.
METHODS:
In this single-arm, real-world study, participants with MCI due to AD or mild AD received biweekly intravenous lecanemab (10 mg/kg). The study was conducted at Hainan Branch, Ruijin Hospital Shanghai Jiao Tong University School of Medicine. Patient enrollment and baseline assessments commenced in November 2023. Safety assessments included monitoring for amyloid-related imaging abnormalities (ARIA) and other adverse events. Clinical and biomarker changes from baseline to 6 months were evaluated using cognitive scales (mini-mental state examination [MMSE], montreal cognitive assessment [MoCA], clinical dementia rating-sum of boxes [CDR-SB]), plasma biomarker analysis, and advanced neuroimaging.
RESULTS:
A total of 64 patients were enrolled in this ongoing real-world study. Safety analysis revealed predominantly mild adverse events, with infusion-related reactions (20.3%, 13/64) being the most common. Of these, 69.2% (9/13) occurred during the initial infusion and 84.6% (11/13) did not recur. ARIA-H (microhemorrhages/superficial siderosis) and ARIA-E (edema/effusion) were observed in 9.4% (6/64) and 3.1% (2/64) of participants, respectively, with only two symptomatic cases (one ARIA-E presenting with headache and one ARIA-H with visual disturbances). After 6 months of treatment, cognitive scores remained stable compared to baseline (MMSE: 22.33 ± 5.58 vs . 21.27 ± 4.30, P = 0.733; MoCA: 16.38 ± 6.67 vs . 15.90 ± 4.78, P = 0.785; CDR-SB: 2.30 ± 1.65 vs . 3.16 ± 1.72, P = 0.357), while significantly increasing plasma amyloid-β 42 (Aβ42) (+21.42%) and Aβ40 (+23.53%) levels compared to baseline.
CONCLUSIONS:
Lecanemab demonstrated a favorable safety profile in Chinese patients with early AD. Cognitive stability and biomarker changes over 6 months suggest potential efficacy, though high dropout rates and absence of a control group warrant cautious interpretation. These findings provide preliminary real-world evidence for lecanemab's use in China, supporting further investigation in larger controlled studies.
REGISTRATION
ClinicalTrials.gov , NCT07034222.
Humans
;
Alzheimer Disease/drug therapy*
;
Male
;
Female
;
Aged
;
Middle Aged
;
Cognitive Dysfunction/drug therapy*
;
Aged, 80 and over
;
Amyloid beta-Peptides/metabolism*
;
Biomarkers
;
East Asian People
5.Advances in role and mechanism of traditional Chinese medicine active ingredients in regulating balance of Th1/Th2 and Th17/Treg immune responses in asthma patients.
Ya-Sheng DENG ; Lan-Hua XI ; Yan-Ping FAN ; Wen-Yue LI ; Yong-Hui LIU ; Zhao-Bing NI ; Ming-Chan WEI ; Jiang LIN
China Journal of Chinese Materia Medica 2025;50(4):1000-1021
Asthma is a chronic inflammatory disease involving multiple inflammatory cells and cytokines. Its pathogenesis is complex, involving various cells and cytokines. Traditional Chinese medicine(TCM) theory suggests that the pathogenesis of asthma is closely related to the dysfunction of internal organs such as the lungs, spleen, and kidneys. In contrast, modern immunological studies have revealed the central role of T helper 1(Th1)/T helper 2(Th2) and T helper 17(Th17)/regulatory T(Treg) cellular immune imbalance in the pathogenesis of asthma. Th1/Th2 imbalance is manifested as hyperfunction of Th2 cells, which promotes the synthesis of immunoglobulin E(IgE) and the activation of eosinophil granulocytes, leading to airway hyperresponsiveness and inflammation.Meanwhile, Th17/Treg imbalance exacerbates the inflammatory response in the airways, further contributing to asthma pathology.Currently, therapeutic strategies for asthma are actively exploring potential targets for regulating the balance of Th1/Th2 and Th17/Treg immune responses. These targets include cytokines, transcription factors, key proteins, and non-coding RNAs. Precisely regulating the expression and function of these targets can effectively modulate the activation and differentiation of immune cells. In recent years,traditional Chinese medicine active ingredients have shown unique potential and prospects in the field of asthma treatment. Based on this, the present study systematically summarizes the efficacy and specific mechanisms of TCM active ingredients in treating asthma by regulating Th1/Th2 and Th17/Treg immune balance through literature review and analysis. These active ingredients, including flavonoids, terpenoids, polysaccharides, alkaloids, and phenolic acids, exert their effects through various mechanisms, such as inhibiting the activation of inflammatory cells, reducing the release of cytokines, and promoting the normal differentiation of immune cells. This study aims to provide a solid foundation for the widespread application and in-depth development of TCM in asthma treatment and to offer new ideas for clinical research and drug development of asthma.
Asthma/genetics*
;
Humans
;
Drugs, Chinese Herbal/chemistry*
;
Th2 Cells/drug effects*
;
Th17 Cells/drug effects*
;
T-Lymphocytes, Regulatory/drug effects*
;
Th1 Cells/drug effects*
;
Animals
;
Cytokines/immunology*
;
Medicine, Chinese Traditional
6.Prediction of immunotherapy targets for chronic cerebral hypoperfusion by bioinformatics method.
Mei ZHAO ; Yanpeng XUE ; Qingqing TIAN ; He YANG ; Qing JIANG ; Mengfan YU ; Xin CHEN
Journal of Biomedical Engineering 2025;42(2):382-388
Chronic cerebral hypoperfusion (CCH) plays an important role in the occurrence and development of vascular dementia (VD). Recent studies have indicated that multiple stages of immune-inflammatory response are involved in the process of cerebral ischemia, drawing increasing attention to immune therapies for cerebral ischemia. This study aims to identify potential immune therapeutic targets for CCH using bioinformatics methods from an immunological perspective. We identified a total of 823 differentially expressed genes associated with CCH, and further screened for 9 core immune-related genes, namely RASGRP1, FGF12, SEMA7A, PAK6, EDN3, BPHL, FCGRT, HSPA1B and MLNR. Gene enrichment analysis showed that core genes were mainly involved in biological functions such as cell growth, neural projection extension, and mesenchymal stem cell migration. Biological signaling pathway analysis indicated that core genes were mainly involved in the regulation of T cell receptor, Ras and MAPK signaling pathways. Through LASSO regression, we identified RASGRP1 and BPHL as key immune-related core genes. Additionally, by integrating differential miRNAs and the miRwalk database, we identified miR-216b-5p as a key immune-related miRNA that regulates RASGRP1. In summary, the predicted miR-216b-5p/ RASGRP1 signaling pathway plays a significant role in immune regulation during CCH, which may provide new targets for immune therapy in CCH.
Humans
;
Computational Biology/methods*
;
Brain Ischemia/therapy*
;
Immunotherapy
;
MicroRNAs/genetics*
;
Signal Transduction
;
Dementia, Vascular/genetics*
;
Chronic Disease
7.Interposition of acellular amniotic membrane at the tendon to bone interface would be better for healing than overlaying above the tendon to bone junction in the repair of rotator cuff injury.
Jiang-Tao WANG ; Chun-Bao LI ; Jia-Ting ZHANG ; Ming-Yang AN ; Gang ZHAO ; Yu-Jie LIU
Chinese Journal of Traumatology 2025;28(3):187-192
PURPOSE:
The retear rate of rotator cuff (RC) after surgery is high, and the rapid and functional enthesis regeneration remains a challenge. Whether acellular amniotic membrane (AAM) helps to promote the healing of tendon to bone and which treatment is better are both unclear. The study aims to investigate the effect of AAM on the healing of RC and the best treatment for RC repair.
METHODS:
Thirty-three Sprague Dawley rats underwent RC transection and repair using microsurgical techniques and were randomly divided into the suturing repair only (SRO) group (n = 11), the AAM overlaying (AOL) group (n = 11), and the AAM interposition (AIP) group (n = 11), respectively. Rats were sacrificed at 4 weeks, then examined by subsequent micro-CT, and evaluated by histologic and biomechanical tests. The statistical analyses of one-way ANOVA or Kruskal-Wallis test were performed using with SPSS 23.0. A p < 0.05 was considered a significant difference.
RESULTS:
AAM being intervened between tendon and bone (AIP group) or overlaid over tendon to bone junction (AOL group) in a rat model, promoted enthesis regeneration, increased new bone and cartilage generation, and improved collagen arrangement and biomechanical properties in comparison with suturing repair only (SRO group) (AOL vs. SRO, p < 0.001, p = 0.004, p = 0.003; AIP vs. SRO, p < 0.001, p < 0.001, p < 0.001). Compared with the AOL group, the AIP group had better results in micro-CT evaluation, histological score, and biomechanical testing (p = 0 0.039, p = 0.011, p = 0.003, respectively).
CONCLUSION
In the RC repair model, AAM enhanced regeneration of the tendon to bone junction. This regeneration was more effective when the AAM was intervened at the tendon to bone interface than overlaid above the tendon to bone junction.
Animals
;
Rats, Sprague-Dawley
;
Rotator Cuff Injuries/surgery*
;
Amnion/transplantation*
;
Rats
;
Wound Healing
;
Rotator Cuff/surgery*
;
Male
;
X-Ray Microtomography
;
Tendons/surgery*
;
Biomechanical Phenomena
8.Corrigendum to "Interposition of acellular amniotic membrane at the tendon to bone interface would be better for healing than overlaying above the tendon to bone junction in the repair of rotator cuff injury" Chinese J Traumatol 28 (2025) 187-192.
Jiang-Tao WANG ; Chun-Bao LI ; Jia-Ting ZHANG ; Ming-Yang AN ; Gang ZHAO ; Yu-Jie LIU
Chinese Journal of Traumatology 2025;28(6):518-518
9.Association of redundant foreskin with sexual dysfunction: a cross-sectional study from 5700 participants.
Yuan-Qi ZHAO ; Nian LI ; Xiao-Hua JIANG ; Yang-Yang WAN ; Bo XU ; Xue-Chun HU ; Yi-Fu HOU ; Ji-Yan LI ; Shun BAI
Asian Journal of Andrology 2025;27(1):90-95
A previous study showed that the length of the foreskin plays a role in the risk of sexually transmitted infections and chronic prostatitis, which can lead to poor quality of sexual life. Here, the association between foreskin length and sexual dysfunction was evaluated. A total of 5700 participants were recruited from the andrology clinic at The First Affiliated Hospital of University of Science and Technology of China (Hefei, China). Clinical characteristics, including foreskin length, were collected, and sexual function was assessed by the International Index of Erectile Function-5 (IIEF-5) and Premature Ejaculation Diagnostic Tool (PEDT) questionnaires. Men with sexual dysfunction were more likely to have redundant foreskin than men without sexual dysfunction. Among the 2721 erectile dysfunction (ED) patients and 1064 premature ejaculation (PE) patients, 301 (11.1%) ED patients and 135 (12.7%) PE patients had redundant foreskin, respectively. Men in the PE group were more likely to have redundant foreskin than men in the non-PE group ( P = 0.004). Logistic regression analyses revealed that the presence of redundant foreskin was associated with increased odds of moderate/severe ED (adjusted odds ratio [aOR] = 1.31, adjusted P = 0.04), moderate PE (aOR = 1.38, adjusted P = 0.02), and probable PE (aOR = 1.37, adjusted P = 0.03) after adjusting for confounding variables. Our study revealed a positive correlation between the presence of redundant foreskin and the risk of sexual dysfunction, especially in PE patients. Assessment of the length of the foreskin during routine clinical diagnosis may provide information for patients with sexual dysfunction.
Humans
;
Male
;
Foreskin
;
Cross-Sectional Studies
;
Adult
;
Erectile Dysfunction/epidemiology*
;
Premature Ejaculation/epidemiology*
;
Middle Aged
;
China/epidemiology*
;
Surveys and Questionnaires
;
Sexual Dysfunction, Physiological/epidemiology*
;
Young Adult
10.Expert consensus on pre-hospital emergency management of heatstroke (2024).
EXPERT GROUP ON HEATSTROKE PREVENTION OF PEOPLES' LIBERATION ARMY ; EMERGENCY MEDICINE COMMITTEE OF THE CHINESE AGING WELL ASSOCIATION ; SOCIETY OF EMERGENCY MEDICINE OF THE HAINAN PROVINCIAL MEDICAL ASSOCIATION ; COLLEGE OF EMERGENCY PHYSICIANS OF THE HAINAN PROVINCIAL MEDICAL DOCTOR ASSOCIATION
Chinese Critical Care Medicine 2025;37(1):1-8
Heatstroke, a life-threatening illness, poses a significant risk to human health, particularly in high-temperature and high-humidity environments. Timely and effective on-site management is critical for improving patient survival and prognosis. Rapid recognition, rapid assessment, and rapid cooling are the cornerstones of pre-hospital care. However, the absence of a standardized protocol for pre-hospital management of heatstroke has impeded the efficacy of treatment. This consensus, initiated by the Expert Group on Heatstroke Prevention of the People's Liberation Army, signifies a collaborative endeavor involving emergency medical personnel, nurses, and administrators from pre-hospital care, emergency departments, and intensive care units in both military and civilian domains. By systematically reviewing evidence-based medicine and clinical expertise in heatstroke prevention, on-site and in-transit care, as well as early treatment in emergency settings, the group has formulated the Expert consensus on pre-hospital emergency management of heatstroke (2024) after extensive discussions and iterative recommendations, which serve as a scientific and standardized framework for pre-hospital heatstroke emergency care. The consensus underscores the pivotal role of enhancing public awareness regarding heatstroke prevention and augmenting the rates of rapid recognition and rapid cooling for effective on-site heatstroke management. In high-risk industries, regions, or seasons for heatstroke, developing scientifically sound plans and conducting practical training can provide effective safety measures. Emergency personnel should undergo specialized training and assessments in knowledge and skills, ambulances should be equipped with effective cooling devices, and hospitals must maintain comprehensive emergency response capabilities. It is recommended to establish a regional heatstroke treatment network to optimize the allocation of emergency resources and streamline processes, thereby improving treatment outcomes and response times.
Heat Stroke/prevention & control*
;
Humans
;
Emergency Medical Services
;
Consensus

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