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Compound heterozygous mutation of AFG3L2 causes autosomal recessive spinocerebellar ataxia through mitochondrial impairment and MICU1 mediated Ca2+overload

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science China(Life sciences) 2025年第2期68卷 484-501页

作者： Hongyu Li Qingwen Ma Yan Xue Linlin Cai Liwen Bao Lei Hong Yitao Zeng shu-Zhen Huang Richard H.Finnell Fanyi Zeng shanghai Institute of Medical Genetics Shanghai Children’s HospitalShanghai Jiao Tong University School of MedicineShanghai 200040China Department of Histo-Embryology Genetics and Developmental BiologyShanghai Jiao Tong University School of MedicineShanghai 200025China NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology Shanghai Key Laboratory of Embryo and Reproduction EngineeringShanghai 200040China Center for Precision Environmental Health Baylor College of MedicineHouston 77030USA school of Pharmacy Macao University of Science and TechnologyMacao 999078China

Autosomal recessive spinocerebellar ataxias(sCARs)are one of the most common neurodegenerative diseases characterized by progressive *** sCARs are known to be caused by mutations in multiple genes,there are still many cases that go undiagnosed or are *** this study,we presented a sCAR patient,and identified a probable novel pathogenic mutation(c.1A>G,p.M1V)in the AFG3L2 start *** proband's genotype included heterozygous mutations of the compound AFG3L2(p.[M1V];[R632X](c.[1A>G];[1894.C>T])),which were inherited from the father(c.1A>G,p.M1V)and mother(c.1894C>T,p.R632X).Functional studies performed on hi PsCs(human induced pluripotent stem cells)generated from the patients and HEK293T cells showed that the mutations impair mitochondrial function and the unbalanced expression of AFG3L2 mRNA and protein ***,this novel mutation resulted in the degradation of the protein and the reduction of the stability of the AFG3L2 protein,and MCU(mitochondrial calcium uniporter)complex mediated Ca2+overload.

关键词： AFG3L2 gene autosomal recessive spinocerebellar ataxia mitochondrial impairment Ca2+overload

Global hotspots and trends on environmental exposure and cardiovascular disease from 1999 to 2022

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World Journal of Cardiology 2025年第1期17卷 92-109页

作者： Xin-Jie Zhang Qing Tan Zheng-Yu Xu song Wen shu-Bo Chen Department of Graduate Chengde Medical UniversityShijiazhuang 067000Hebei ProvinceChina Department of surgical Urology Hebei Province Xingtai People’s HospitalXingtai 054031Hebei ProvinceChina Department of Rheumatology The Second Affiliated Hospital of Guangzhou Medical UniversityGuangzhou 510260Guangdong ProvinceChina Department of Orthopedics Tianjin Medical University General HospitalTianjin 300052China Department of Cardiology Guangdong Cardiovascular InstituteGuangdong Provincial People’s HospitalGuangdong Academy of Medical SciencesSouthern Medical UniversityGuangzhou 510080Guangdong ProvinceChina

BACKGROUND The increasing risk of cardiovascular disease(CVD)associated with worsening environmental exposure is a critical health concern garnering global research *** To systematically assess the scope and characteristics of research on the relationship between environmental exposure and *** A thorough examination of publications on the relationship between environmental exposure and CVD from 1999 to 2022 was carried out by extensively screening the literature using the Web of science Core *** language of the selected publications was standardized to ***,different academic tools such as Citespace,VOsviewer,HistCite,Python,Matplotlib,and Bibliometrix were utilized to examine the research trends in this *** The study’s findings indicated a steady increase in scientific publications among the 1640 analyzed documents,peaking in 2022 with 197 *** United states emerged as the leading nation regarding high-quality publications and international *** University was identified as the most prolific institution.“Environmental research”was the most frequently contributing journal,and Muenzel T was recognized as the top *** research hotspots are primarily concentrated on themes such as“cardiovascular disease”,“exposure”,“risk”,“mortality”,and“air pollution”.CONCLUsION This study highlights increasing research on the link between environmental exposure and CVD,identifying key exposures and diseases while emphasizing the need for further investigation into underlying mechanisms.

关键词： Bibliometrics Environmental exposure Cardiovascular disease Citespace VOsviewer Web of science

The sequential Mediating Roles of Body Pain and self-Reported Health status in the Relationship between sleep Duration and Life satisfaction

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Biomedical and Environmental sciences 2025年第1期38卷 47-55页

作者： Jiafeng Li Xuewei Fu Dan Yang Ye Wang Ting Chen Yang Peng Fenghao Yang Yuchen Zhan Yu Wang Xiangdong Tang Mental Health Center West China Hospital of Sichuan UniversityChengdu 610041SichuanChina Nanchong Psychosomatic hospital Nanchong 6370001SichuanChina President’s Office West China Hospital of Sichuan UniversityChengdu 610041SichuanChina sichuan Provincial Bayi Rehabilitation Center Chengdu 611135SichuanChina Chengdu Office hospital of The People’s Government of Tibet Autonomous Region Chengdu 610041SichuanChina sleep Medicine Center West China Hospital of Sichuan UniversityChengdu 610041SichuanChina Department of Respiratory and Critical Care Medicine West China Hospital of Sichuan UniversityChengdu 610041SichuanChina

Objective This study examines the sequential mediating roles of body pain and self-reported health in the association between sleep duration and self-reported life satisfaction among elderly Chinese *** Data from the fifth wave of the China Health and Retirement Longitudinal survey(CHARLs)were used to analyse the relationships between sleep duration and body pain,self-reported health,and life satisfaction through logistic regression and Restricted Cubic spline(RCs)*** sequential mediation effects of body pain and self-reported health status were examined via chain mediation *** Logistic regression analysis showed that sleeping fewer than 6 hours or 6-7 hours was linked to higher risks of body pain,poor health,and dissatisfaction with life compared to sleeping 7-8 hours(all Pse sleeping more than 9 hours also had increased risks of poor health and dissatisfaction with life compared to those sleeping 7-8 hours(all Psis showed that body pain and self-reported health status sequentially mediated 46.15%of the association between sleep duration and life *** Body pain and self-reported health may shape the relationship between sleep duration and life satisfaction in elderly Chinese adults.

关键词： sleep Life satisfaction Health status Pain

Effect of comprehensive perioperative nursing on pain intensity,complication rates,and comfort levels in patients undergoing gallstone surgery

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World Journal of Gastrointestinal surgery 2025年第2期17卷 111-119页

作者： Chen-Yan Bao Xiao-Kun Ding Qiao-Fei Qi Peng Ye Ze-Jun Fang Department of General surgery Sanmen People’s HospitalTaizhou 317100Zhejiang ProvinceChina Central Laboratory Sanmen People’s HospitalTaizhou 317100Zhejiang ProvinceChina

BACKGROUND surgery is the gold standard for gallstone ***,the complications associated with the surgical procedure can exert diverse and adverse impacts on patients’health and quality of life to varying ***,it is essential to offer perioperative care to patients undergoing gallstone *** To examine the impact of perioperative comprehensive nursing on pain intensity,complication rates,and patient comfort in individuals undergoing gallstone *** From February 2022 to February 2024,195 patients who underwent gallstone surgery at sanmen People’s hospital were selected and divided into two groups:A control group receiving routine nursing care(95 patients)and a research group receiving perioperative comprehensive nursing(100 patients).Key postoperative recovery indicators,including time to first postoperative anal exhaust,oral food intake,and ambulation,were observed,along with pain intensity(measured by the numeric rating scale),complication rate(bleeding,incision infection,recurrence),patient comfort(assessed using the visual analogue scale),and quality of life(measured by the World Health Organization Quality of Life-BREF).REsULTs The research group showed significantly shorter times to first postoperative anal exhaust,oral intake,and ***,numeric rating scale pain scores in the research group were markedly lower post-nursing,and the total complication rate was significantly reduced compared to the control ***,comfort levels improved considerably in the research group,and World Health Organization Quality of Life-BREF scores across the physical,psychological,social,and environmental domains were significantly higher compared to the control group following nursing *** Perioperative comprehensive nursing effectively enhances postoperative recovery in patients undergoing gallstone surgery,reducing pain,lowering complications,and improving patient comfort and quality of life,which deser

关键词： Perioperative comprehensive nursing Gallstone surgery Pain intensity Complication rate Comfort

Retrospective analysis of preoperative tumor marker levels in rectal cancer patients: Implications for diagnosis

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World Journal of Gastrointestinal surgery 2025年第3期17卷 221-228页

作者： Ming Li Da-Hao Yuan Zhi Yang Teng-Xiang Lu Lei Zhang Clinical Laboratory Linquan County People’s HospitalLinquan 236400Anhui ProvinceChina Hemodialysis Center Linquan County People’s HospitalLinquan 236400Anhui ProvinceChina Department of Gastrointestinal surgery Linquan County People’s HospitalLinquan 236400Anhui ProvinceChina

BACKGROUND Early detection of rectal cancer poses significant *** diagnostic methods,including colonoscopy,imaging techniques,and fecal tests,have limitations such as invasiveness,cost,and varying *** study evaluated the diagnostic value of preoperative serum tumor markers in rectal cancer *** To investigate the value of a multi-marker approach for the preoperative diagnosis of rectal *** A retrospective analysis of 250 patients diagnosed with rectal cancer between July 2022 and July 2024 was *** alpha-fetoprotein levels,carcinoembryonic antigen(CEA),cancer antigen 125(CA125),CA19-9,CA15-3,and CA72-4 were *** blood samples were collected under standardized conditions,including fasting status and proper storage methods,within two weeks before *** performance was assessed using receiver operating characteristic curve *** among clinicopathological features were also *** CEA demonstrated the highest diagnostic performance among individual tumor markers with an area under the curve(AUC)of 0.78[95%confidence interval(CI):0.73-0.83].However,a combination of CEA,CA19-9,and CA72-4 showed superior performance,achieving an AUC of 0.87(95%CI:0.83-0.91).significant correlations were observed between CEA levels and several clinicopatho-logical features,including tumor stage(Pstant metastasis(Psubgroup analysis of patients diagnosed after July 2022,the integration of fecal occult blood testing with the tumor marker panel(CEA+CA19-9+CA72-4)significantly improved diagnostic accuracy,increasing the AUC to 0.91(95%CI:0.86-0.96).CONCLUsION A multimarker approach combining CEA,CA19-9,and CA72-4 with fecal occult blood testing enhances the preoperative assessment of patients with rectal *** findings suggest potential improvements in risk stratification and management of patients with rect

关键词： Rectal cancer Tumor markers Carcinoembryonic antigen Cancer antigen 19-9 Cancer antigen 72-4 Fecal occult blood test Diagnosis

Global trend of review articles focused on cardiopulmonary bypass:Perspectives from bibliometrics

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World Journal of Methodology 2025年第2期15卷 166-173页

作者： Lei Deng Rui Zhou Xian-Jie Zhang Yan-Hua Peng Department of Gastroenterology Deyang People’s HospitalDeyang 618000Sichuan ProvinceChina Department of Anesthesiology and Perioperative Medicine Shanghai Fourth People's HospitalSchool of MedicineTongji UniversityShanghai 200434China Department of Anesthesiology Deyang People’s HospitalDeyang 618000Sichuan ProvinceChina

BACKGROUND Cardiopulmonary bypass(CPB)is a life-support technology widely used in *** articles reflect research advances in a certain topic or field within a certain period of *** To perform a bibliometric analysis of the review articles that focused on CPB for cardiovascular *** This study was based on a bibliometric *** were acquired from the Web of science and basic bibliometric parameters were analyzed and visualized using VOsviewer and *** We identified 141 review articles on ***,the number of publications increased,and most of them were published in the 2010s(n=57,40.4%)and the 2020s(n=45,31.9%).There were 113(80.1%)narrative review articles,21(14.9%)meta-analysis studies and 7(5.0%)systematic review *** United states(n=25,17.7%)and China(n=21,14.9%)were the leading countries in terms of publication *** articles were published in 98 different *** Journal of Cardiothoracic and Vascular Anesthesia(n=14,10.0%)and Perfusion-United Kingdom(n=11,7.8%)were preferred by the *** high-frequency keywords included inflammatory response,children,acute kidney injury,meta-analysis and off-pump,except for CPB and cardiac *** response had the closest relationship with CPB during cardiac *** complications of CPB,including inflammatory response,kidney injury and ischemia,caught lots of *** The rapid increase of review papers shows that the research on CPB in cardiac surgery is increasingly being emphasized by scholars and clinical staff ***-analysis has been widely conducted to analyze clinical controversies and further guide clinical *** to improving the outcomes of patients undergoing cardiac surgery with CPB are the hot spots in this field.

关键词： Cardiopulmonary bypass Review article Bibliometric analysis Cardiac surgery Hot spots

Gentiopicroside Alleviates Atherosclerosis by suppressing Reactive Oxygen species-Dependent NLRP3 Inflammasome Activation in Vascular Endothelial Cells via sIRT1/Nrf2 Pathway

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Chinese Journal of Integrative Medicine 2025年第2期31卷 118-130页

作者： LI Zhu-qing ZHANG Feng LI Qi WANG Li sUN Xiao-qiang LI Chao YIN Xue-mei LIU Chun-lei WANG Yan-xin DU Xiao-yu LU Cheng-zhi Department of Cardiology Tianjin First Central HospitalTianjin300192China The First Central Clinical school Tianjin Medical UniversityTianjin300070China Department of Cardiology The First College of Clinical Medical ScienceChina Three Gorges University&Yichang Central People’s HospitalYichangHubei Province443003China school of Medicine Nankai UniversityTianjin300071China

Objective:To evaluate the protective effects of gentiopicroside(GPs)against reactive oxygen species(ROs)-induced NOD-like receptor family,pyrin domain containing 3(NLRP3)inflammasome activation in endothelial cells,aiming to reduce ***:Eight-week-old male ApoE-deficient mice were randomly divided into 2 groups(n=10 per group):the vehicle group and the GPs treatment *** groups were fed a high-fat diet for 16 ***(40 mg/kg per day)was administered by oral gavage to the GPs group,while the vehicle group received an equivalent volume of the vehicle *** the end of the treatment,blood and aortic tissues were collected for assessments of atherosclerosis,lipid profiles,oxidative stress,and molecular expressions related to NLRP3 inflammasome activation,ROs production,and ***,in vitro experiments on human aortic endothelial cells treated with oxidized low-density lipoprotein(ox-LDL)were conducted to evaluate the effects of GPs on NLRP3 inflammasome activation,pyroptosis,apoptosis,and ROs production,specifically examining the role of the sirtuin 1(sIRT1)/nuclear factor erythroid 2-related factor 2(Nrf2)***1 and Nrf2 inhibitors were used to confirm the pathway's ***:GPs treatment significantly reduced atherosclerotic lesions in the en face aorta(Ps well as in the thoracic and abdominal aortic regions,and markedly decreased sinus lesions within the aortic root(Ps reduced oxidative stress markers and proinflammatory cytokines,including interleukin(IL)-1βand IL-18,in lesion areas(Ps inhibited ox-LDL-induced NLRP3 activation,as evidenced by reduced NLRP3(Psis-associated speck-like protein containing a CARD,cleaved-caspase-1,and cleavedgasdermin D expressions(all Ps also decreased ROs production,apoptosis,and pyroptosis,with the beneficial effects being significantly reversed by sIRT1 or Nrf2 ***:GPs exe

关键词： endothelial dysfunction gentiopicroside NLRP3 inflammasome sIRT1 nuclear factor erythroid 2-related factor 2 Chinese medicine

Residual gastric cancer with a mixed small cell neuroendocrine and keratinizing squamous cell carcinoma:A case report

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World Journal of Clinical Oncology 2025年第3期16卷 162-170页

作者： Tian Wang Yang Cheng Fan Hu Qiang Wang Department of Gastroenterology Jiangxi Provincial People’s HospitalThe First Affiliated Hospital of Nanchang Medical CollegeNanchang 330000Jiangxi ProvinceChina Department of Pathology Jiangxi Provincial People’s HospitalThe First Affiliated Hospital of Nanchang Medical CollegeNanchang 330000Jiangxi ProvinceChina

BACKGROUND Despite advancements in early detection and treatment,the prognosis and his-tological types for residual gastric cancer(GC)remains *** sUMMARY This case report presents a rare occurrence of residual GC featuring a combination of small cell neuroendocrine carcinoma(sCNEC)and squamous cell carcinoma(sCC)in a 60-year-old male *** patient,with a history of Billroth II gas-trectomy for duodenal ulcer bleeding,presented with gastrointestinal *** computed tomography and positron emission tomography-compu-ted tomography indicated adenocarcinoma with tumor and abdominal lymph node *** patient underwent laparoscopic total gastrectomy and ly-mph node dissection for residual *** examination of the resected tumor confirmed the presence of both sCNEC and ***,the patient underwent adjuvant chemotherapy four *** years later,the patient was found to occur esophageal cancer and was performed a small bowel stoma and radical *** In this case report,we detail a rare instance of residual GC with mixed sCNEC and sCC,emphasizing the complexity of diagnosis and treatment,and the need for ongoing research.

关键词： Gastric stumper cancer small cell neuroendocrine carcinoma squamous cell carcinoma Adjuvant chemotherapy Case report

Epigenetics disruptions enabled by porphyrin-derived metal-organic frameworks disarm resistances to sonocatalytic ROs anti-tumor actions

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Fundamental Research 2025年第1期5卷 296-306页

作者： Yan Zhang Dou Du Chao Fang Xin Yu Yujia Fang Xinyu Liu Di Ou Haohao Yin Hui Liu Taixia Wang Lu Lu Xiaolong Li Kun Zhang Central Laboratory Ultrasound Research and Education InstituteShanghai Tenth People's HospitalTongji University School of MedicineTongji UniversityShanghai 200072China Department of Medical Oncology Shanghai Pulmonary HospitalThoracic Cancer InstituteTongji University School of MedicineTongji UniversityShanghai 200433China

Post-transcriptional epigenetic modifications provide numerous implications for tumor progression,metastasis and recurrence,which also pose resistances to reactive oxygen species(ROs)-based ***,we proposed an epigenetic deubiquitination disruption strategy to disarm the ubiquitination-deubiquitination balance-induced resistances to ROs production and ROs-based anti-tumor action for potentiating sonodynamic treatment(sDT)*** end it,porphyrin-derived metal-organic framework(MOF)sonocatalytic nanoplatforms were developed to load deubiquitination inhibitors(i.e.,Auranofin).Ultrasound-triggered Auranofin release from PCN224@Au has been validated to blockade the deubiquitinating process and drive proteasome-mediated target protein *** epigenetic deubiquitination disruption not only synergized with MOF-mediated sonocatalytic ROs production,but also inactivate deubiquitinating enzymes,blockade the deubiquitination process and further remove these resistances,both of which mutually behaved as reciprocal impetuses to significantly magnify sDT outcomes against liver *** a deubiquitination-engineered disruption approach finds an unprecedented pathway to disarm deubiquitination-induced resistances to sDT and other ROs-based anti-tumor means,which also enlightens us to establish other post-transcriptional epigenetic modification disruption strategies to re-program the tumor microenvironment and elevate the anti-tumor efficiency of various treatment methods(e.g.,immunotherapy).

关键词： Epigenetics engineering Ubiquitylation modulation sonocatalysis Reactive oxygen species resistance Anti-tumor action