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Arrhythmogenic right ventricular cardiomyopathy: From genetics to diagnostic and therapeutic challenges

World Journal of Cardiology 2014年第12期6卷 1234-1244页

作者： Bruno Pinamonti Francesca Brun luisa mestroni Gianfranco Sinagra Cardiovascular Department Ospedali Riuniti of Trieste34100Trieste Italy Cardiovascular Institute and Adult Medical Genetics Program University of Colorado Denver AMC Aurora CO 80045-2507 United States

Arrhythmogenic right ventricular cardiomyopathy(ARVC) is a genetic disease characterized by myocyte loss and fibro-fatty tissue replacement. Diagnosis of ARVC remains a clinical challenge mainly at its early stages and in patients with minimal echocardiographic right ventricular(RV) abnormalities. ARVC shares some common features with other cardiac diseases, such as RV outflow ventricular tachycardia, Brugada syndrome, and myocarditis, due to arrhythmic expressivity and biventricular involvement. The identification of ARVC can be often challenging, because of the heterogeneous clinical presentation, highly variable intra- and inter-family expressivity and incomplete penetrance. This genotypephenotype "plasticity" is largely unexplained. A familial history of ARVC is present in 30% to 50% of cases, and the disease is considered a genetic cardiomyopathy, usually inherited in an autosomal dominant pattern with variable penetrance and expressivity; in addition, autosomal recessive forms have been reported(Naxos disease and Carvajal syndrome). Diagnosis of ARVC relays on a scoring system, with major or minorcriteria on the Revised Task Force Criteria. Implantable cardioverter defibrillators(ICDs) are increasingly utilized in patients with ARVC who have survived sudden death(SD)(secondary prevention). However, there are few data available to help identifying ARVC patients in whom the prophylactic implantation of an ICD is truly warranted. Prevention of SD is the primary goal of management. Pharmacologic treatment of arrhythmias, catheter ablation of ventricular tachycardia, and ICD are the mainstay of treatment of ARVC.

关键词： cardiomyopathy tachycardia Brugada diagnostic genetics familial unexplained outflow inherited challenging

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Colorectal cancer screening:A review of current knowledge and progress in research

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World Journal of Gastrointestinal Oncology 2024年第4期16卷 1119-1133页

作者： Sara Ramos Lopes Claudio Martins Inês Costa Santos Madalena Teixeira Élia Gamito Ana luisa Alves Department of Gastroenterology Centro Hospitalar de SetúbalSetúbal 2910-446Portugal

Colorectal cancer(CRC)is one of the most prevalent malignancies worldwide,being the third most commonly diagnosed malignancy and the second leading cause of cancer-related deaths *** the progress in screening,early diagnosis,and treatment,approximately 20%-25%of CRC patients still present with metastatic disease at the time of their initial ***,the burden of disease is still expected to increase,especially in individuals younger than 50 years old,among whom early-onset CRC incidence has been *** and early detection are pivotal to improve CRC-related *** is well established that CRC screening not only reduces incidence,but also decreases deaths from *** screening strategies have proven effective in decreasing both CRC incidence and mortality,though variations in efficacy have been reported across the ***,uncertainties persist regarding the optimal screening method,age intervals and ***,adherence to CRC screening remains globally *** recent years,emerging technologies,notably artificial intelligence,and non-invasive biomarkers,have been developed to overcome these ***,controversy exists over the actual impact of some of the new discoveries on CRC-related outcomes and how to effectively integrate them into daily *** this review,we aim to cover the current evidence surrounding CRC *** will further critically assess novel approaches under investigation,in an effort to differentiate promising inno-vations from mere novelties.

关键词： Colorectal cancer Screening Review Oncology Artificial intelligence

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Poly(A)-specific RNase(PARN)generates and regulates miR-125a-5p 3’-isoforms,displaying an altered expression in breast cancer

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Signal Transduction and Targeted Therapy 2024年第5期9卷 1805-1807页

作者： luisa Tomasello Shoshanah M.Holub Giovanni Nigita Rosario Distefano Carlo M.Croce Department of Cancer Biology and Genetics The Ohio State UniversityColumbusOHUSA Department of Internal Medicine Division of HematologyThe Ohio State UniversityColumbusOHUSA

Dear Editor,MicroRNAs(miRNAs)are small non-coding RNAs crucial for post-transcriptional gene regulation,processed from primary miRNA transcripts by Drosha and Dicer.1 Latest advancements in Next Generation Sequencing highlighted the existence of miRNA isoforms(isomiRs)resulting from alternative processing,RNA editing,or post-transcriptional modifications.

关键词： breast cancer advancement

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Impact of sex on the outcomes of deceased donor liver transplantation

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World Journal of Transplantation 2024年第1期14卷 120-129页

作者： Oya M Andacoglu Isabel S Dennahy Nicole C Mountz luisa Wilschrey Arzu Oezcelik Division of Transplantation and Advanced Hepatobiliary Surgery University of UtahSalt Lake CityUT 84112United States Department of Surgery University of EssenEssen D-45122Germany Department of Surgery The University of Oklahoma Health Sciences CenterOklahoma CityOK 73117United States Department of Surgery University of Oklahoma College of MedicineOklahoma CityOK 73117United States

BACKGROUND Data examining the impact of sex on liver transplant(LT)outcomes are *** is clear that further research into sex-related differences in transplant patients is necessary to identify areas for *** of these differences may help to identify specific areas of focus to improve on the organ matching process,as well as the peri-and post-operative care of these *** To utilize data from a high-volume Eurotransplant center to compare characteristics of male and female patients undergoing liver transplant and assess association between sex-specific variables with short-and long-term post-transplant *** A retrospective review of the University of Essen’s transplant database was performed with collection of baseline patient characteristics,transplant-related data,and short-term *** of these data were made with Shapiro-Wilk,Mann-Whitney U,χ2 and Bonferroni tests applied where appropriate.A P value of<0.05 was accepted as statistically *** Of the total 779 LT recipients,261(33.5%)were *** patients suffered higher incidences of acute liver failure and lower incidences of alcohol-related or viremic liver disease(P=0.001).Female patients were more likely to have received an organ from a female donor with a higher donor risk index score,and as a high urgency offer(all P<0.05).Baseline characteristics of male and female recipients were also significantly *** multivariate hazard regression analysis,recipient lab-Model for End-Stage Liver Disease score and donor cause of death were associated with long-term outcomes in ***-operative diagnosis of hepatocellular carcinoma,age at time of listing,duration of surgery,and units transfused during surgery,were associated with long-term outcomes in *** of complications was associated with long-term outcomes in both *** survival was similar in both males and females;however,when stratified by age,females<50 y

关键词： Liver transplant Outcomes Survival Peri-and post-operative care

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入侵种真江蓠保护性细菌与条件致病菌的分离与鉴定

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中国海洋大学学报（自然科学版） 2024年第4期54卷 78-85页

作者：侯明磊任艺飞 luisa Düsedau Florian Weinberger 王高歌中国海洋大学海洋生命学院山东青岛266003 中国海洋大学海洋生物多样性与进化研究所山东青岛266003 亥姆霍兹海洋研究中心海洋生态学部德国基尔24105

为了解海水升温对入侵种真江蓠可培养附生细菌群落的影响,运用德国基尔Helmhotlz海洋研究中心的Benthocosm系统和传统的微生物培养方法,分离、鉴定了23和26℃条件下入侵种真江蓠表面的附生细菌,通过分析16S rRNA基因同源性来进行分离菌... 详细信息

为了解海水升温对入侵种真江蓠可培养附生细菌群落的影响,运用德国基尔Helmhotlz海洋研究中心的Benthocosm系统和传统的微生物培养方法,分离、鉴定了23和26℃条件下入侵种真江蓠表面的附生细菌,通过分析16S rRNA基因同源性来进行分离菌株的鉴定,并通过侵染实验筛选出保护性细菌和条件致病菌。本研究共分离、纯化79株细菌,其中鉴定出的菌种有粪肠球菌(Enterococcus faecalis)、墨西哥微小杆菌(Exiguobacterium mexicanum)、Mammaliicoccus sciuri、溶藻弧菌(Vibrio alginolyticus)、新喀里多尼亚弧菌(Vibrio neocaledonicus)和相模原弧菌(Vibrio sagamiensis),隶属于厚壁菌门和变形菌门。侵染实验结果显示,相模原弧菌是保护性细菌,粪肠球菌、溶藻弧菌和新喀里多尼亚弧菌是条件致病菌。本研究丰富了入侵海藻真江蓠表面附生细菌的知识体系,同时,筛选的保护性菌株为防控真江蓠白化病的爆发提供技术支撑。

关键词：真江蓠温度表面附生细菌保护性细菌条件致病菌

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Bruton’s tyrosine kinase inhibitors in primary central nervous system lymphoma:New hopes on the horizon

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World Journal of Clinical Oncology 2024年第5期15卷 587-590页

作者： Leonardo S Lino-Silva Sabrina B Martínez-Villavicencio luisa Fernanda Rivera-Moncada Department of Pathology Oncology National Cancer Institute(Mexico)TlalpanMexico City 14080Mexico

In this editorial,we comment on the article by Wang et *** manuscript explores the potential synergistic effects of combining zanubrutinib,a novel oral inhibitor of Bruton’s tyrosine kinase,with high-dose methotrexate(HD-MTX)as a therapeutic intervention for primary central nervous system lymphoma(PCNSL).The study involves a retrospective analysis of 19 PCNSL patients,highlighting clinicopathological characteristics,treatment outcomes,and genomic *** results indicate the combination’s good tolerance and strong antitumor activity,with an 84.2%overall response *** authors emphasize the potential of zanubrutinib to modulate key genomic features of PCNSL,particularly mutations in myeloid differentiation primary response 88 and cluster of differentiation ***,the study investigates the role of circulating tumor DNA in cerebrospinal fluid for disease surveillance and treatment response *** essence,the study provides valuable insights into the potential of combining zanubrutinib with HD-MTX as a frontline therapeutic regimen for *** findings underscore the importance of exploring alternative treatment modalities and monitoring genomic and liquid biopsy markers to optimize patient *** the findings suggest promise,the study’s limitations should be considered,and further research is needed to establish the clinical relevance of this therapeutic approach for PCNSL.

关键词： Primary central nervous system lymphoma Zanubrutinib Bruton’s tyrosine kinase Prognosis Myeloid differentiation primary response 88 gene Cluster of differentiation 79B gene

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Root Sprouts of Domesticated Phaseolus coccineus L. Overwinter Plants and the Environment at Its Collection Sites

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Open Journal of Ecology 2024年第5期14卷 508-521页

作者： Ma. luisa Patricia Vargas-Vázquez Jorge Alberto Acosta-Gallegos Fabián Islas-Gutiérrez Enrique Buendía-Rodríguez Campo Experimental Valle de Mé xico Instituto Nacional de Investigaciones Forestales Agr&#237colas y Pecuarias Texcoco Mexico Campo Experimental Bají o Instituto Nacional de Investigaciones Forestales Agr&#237colas y Pecuarias Guanajuato M&#233xico

Buds emerge from the roots of domesticated runner bean plants (Phaseolus coccineus L.) as sprouts and give the crop its persistence. This particularity of the species seems to be associated with the environment where the species was cultivated during long time. Data on regrowth traits were recorded on 70 accessions of domesticated P. coccineus after overwintering at a site in the central highlands of Mexico. The characteristics recorded included fresh weight of vegetative regrowth, root length, root crown diameter, and diameter of the main root. Most accessions that sprout the following spring, after the grain harvest of the previous year, come from temperate and semi-cold sites with cambisol and andosol soils in mixed Quercus pine forest and high mountain fir trees. Those that do not sprout are from sites of semiarid temperate climate, haplic phaeozem soil in shrub grasslands with deciduous broadleaved trees, and semiwarm subhumid climate, eutrophic regosol soil in deciduous broadleaved forest. Two types of roots were differentiated: branched and thickened taproots, also associated with a different climate, and the type of soil of the collection sites.

关键词： P. coccineus Distribution Vegetation-Environment Interactions Drought-Alternative Species Root-Regrowth

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Integrative genomic and transcriptomic profiling of pulmonary sarcomatoid carcinoma identifies molecular subtypes associated with distinct immune features and clinical outcomes

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Cancer Innovation 2024年第3期3卷 81-94页

作者： Sahil Seth Runzhe Chen Yang Liu Junya Fujimoto Lingzhi Hong Alexandre Reuben Susan Varghese Carmen Behrens Tina McDowell luisa Solis Soto Cara Haymaker Annikka Weissferdt Neda Kalhor Jia Wu Xiuning Le Natalie I Vokes Chao Cheng John V.Heymach Don L.Gibbons P.Andrew Futreal Ignacio IWistuba Humam Kadara Jianhua Zhang Cesar Moran Jianjun Zhang Department of Genomic Medicine The University of Texas MD Anderson Cancer CenterHoustonTexasUSA TRACTION The University of Texas MD Anderson Cancer CenterHoustonTexasUSA Graduate School of Biomedical Sciences The University of Texas MD Anderson and the University of Texas Health Science CenterHoustonTexasUSA Department of Thoracic/Head and Neck Medical Oncology The University of Texas MD Anderson Cancer CenterHoustonTexasUSA Department of Translational Molecular Pathology The University of Texas MD Anderson Cancer CenterHoustonTexasUSA Department of Epidemiology The University of Texas MD Anderson Cancer CenterHoustonTexasUSA Department of Pathology The University of Texas MD Anderson Cancer CenterHoustonTexasUSA Department of Imaging Physics The University of Texas MD Anderson Cancer CenterHoustonTexasUSA Department of Medicine Baylor College of MedicineHoustonTexasUSA

Background:Pulmonary sarcomatoid carcinoma(PSC)is a rare and aggressive subtype of non-small cell lung cancer(NSCLC),characterized by the presence of epithelial and sarcoma-like *** molecular and immune landscape of PSC has not been well ***:Multiomics profiling of 21 pairs of PSCs with matched normal lung tissues was performed through targeted high-depth DNA panel,whole-exome,and RNA *** describe molecular and immune features that define subgroups of PSC with disparate genomic and immunogenic features as well as distinct clinical ***:In total,27 canonical cancer gene mutations were identified,with TP53 the most frequently mutated gene,followed by ***,most TP53 and KRAS mutations were earlier genomic events mapped to the trunks of the tumors,suggesting branching evolution in most PSC *** identified two distinct molecular subtypes of PSC,driven primarily by immune infiltration and *** Immune High(IM-H)subtype was associated with superior survival,highlighting the impact of immune infiltration on the biological and clinical features of localized ***:We provided detailed insight into the mutational landscape of PSC and identified two molecular subtypes associated with ***-H tumors were associated with favorable recurrence-free survival and overall survival,highlighting the importance of tumor immune infiltration in the biological and clinical features of PSCs.

关键词： genomic immune pulmonary sarcomatoid carcinoma survival

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Cat scratch disease in childhood: a 10-year experience of an Italian tertiary care children’s hospital

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World Journal of Pediatrics 2023年第2期19卷 189-193页

作者： Lara Fusani Elisabetta Venturini Elena Chiappini luisa Galli Postgraduate School of Pediatrics University of FlorenceMeyer Children’s HospitalFlorenceItaly Infectious Diseases Unit Meyer Children’s HospitalViale Pieraccini 24FlorenceItaly Department of Health Sciences University of FlorenceFlorenceItaly

Cat scratch disease(CSD),an infection caused by Bartonella henselae,is uncommon in Europe,whereas 24,000 cases per year have been reported in the United States[1,2].The typical manifestation of CSD consists of fever and subacute,solitary or regional,painful and self-limited lymphadenopathy in a patient with a history of previous scratching,biting,or contact with a kitten or cat[3].In 85%of patients,only one regional lymph node is involved,which is located in the axillary and epitrochlear regions in approximately half of the cases[4,5].One or more round,red-brown nontender papules can develop at the inoculation site or near the scratch after a few days and may persist until two to three weeks[6].

关键词： Italian scratch Barton

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雇佣视角下,西班牙平台劳动者的社会保障

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中国社会保障 2024年第5期 45-47页

作者：吴孝芹(编译) 山东工商学院

在西班牙,社会保障权是宪法赋予公民的权利,但平台劳动者很难获得充分保障。关于其社会保障问题的相应研究总体分为两类:一是全方位研究平台就业的法律架构;二是探讨平台与劳动者之间的法律关系。随着平台就业的普遍化,后者成为争论的焦... 详细信息

在西班牙,社会保障权是宪法赋予公民的权利,但平台劳动者很难获得充分保障。关于其社会保障问题的相应研究总体分为两类:一是全方位研究平台就业的法律架构;二是探讨平台与劳动者之间的法律关系。随着平台就业的普遍化,后者成为争论的焦点,争议主要聚焦于平台与劳动者之间签订的合同属于商业合作合同还是雇佣合同。

关键词：社会保障权雇佣合同社会保障问题合作合同全方位研究法律架构普遍化就业

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