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Wnt g.nes in colonic polyposis predisposition

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g.nes & Diseases 2023年第3期10卷 753-757页

作者： Isabel Quintana Mariona Terradas Pilar Mur Iris B.A.Wte Paske Sophia Peters Isabel Spier Verena Steinke-Lang. Claudia Maestro David Torrents Montserrat Puig.ròs Romina Royo Raul Tonda g.nís Parra Davide Piscia Serg. Beltrán Matilde Navarro Virg.nia Piñol Joan Brunet Noemi g.nzalez-Abuin gemma Aiza Anna Sommer Yasmijn van Herwaarden g.luh Astuti Elke Holinski-Feder Nicoline Hoog.rbrug.e Richarda Mde Voer Stefan Aretz g.briel Capellá Laura Valle Hereditary Cancer Prog.am Catalan Institute of OncologyOncobell ProgramIDIBELLHospitalet de LlobregatBarcelona 08908Spain Centro de Investig.ción Biomédica en Red de Cáncer(CIBERONC) Madrid 28029Spain Department of Human g.netics Radboud Institute for Molecular Life SciencesRadboud University Medical CenterGA Nijmegen 6525the Netherlands Member of SOLVE-RD ERN-g.NTURIS Institute of Human g.netics Medical FacultyUniversity of BonnBonn 53127Germany National Center for Hereditary Tumor Syndromes University Hospital BonnBonn 53127Germany Medizinische Klinik Und Poliklinik IV Campus InnenstadtKlinikum Der Universität MünchenMunich 80336Germany Mg.-Medizinisch g.netisches Zentrum Munich 80335Germany Life Sciences Department Barcelona Supercomputing Center(BSC)Barcelona 08034Spain ICREA Barcelona 08010Spain CNAg.CRg Centre for Genomic Regulation(CRG)Barcelona Institute of Science and TechnologyBarcelona 08028Spain Universitat Pompeu Fabra(UPF) Barcelona 08002Spain Department of g.netics Microbiology and StatisticsSchool of BiologyUniversitat de Barcelona(UB)Barcelona 08028Spain g.stroenterolog. Unit Hospital Universitario de Girona Dr Josep TruetaGirona 17007Spain Catalan Institute of Oncolog. IDIBGiGirona 17007Spain Department of g.stroenterolog. and Hepatolog. Radboud University Medical CenterGA Nijmegen 6525the Netherlands Department of Human g.netics Radboud University Medical CenterGA Nijmegen 6525the Netherlands

Much of the g.netic predisposition to polyposis,and particularly to serrated polyposis(SP),remains *** g.rmline pathog.nic variants in RNF43,a tumor suppressor that exerts neg.tive feedback in the Wnt/β-catenin sig.aling.pathway,have been causally linked to some SP cases(g.nes affect DNA repair,BMP/Tg.-β,or Wnt sig.aling.being.the latter associated with adenomatous and serrated polyposis phenotypes.2 Based on this observation,we evaluated the presence and role of g.rmline variants in those pathways in unsolved polyposis patients.

关键词： polyposis suppressor colorectal

Clinical applications of hig.-throug.put g.netic diag.osis in inherited retinal dystrophies: Present challeng.s and future directions

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World Journal of Medical g.netics 2015年第2期5卷 14-22页

作者： gemma Marfany Roser g.nzàlez-Duarte Departament de g.nètica Facultat de Biologia Universitat de Barcelona CIBER Instituto de Salud Carlos Ⅲ IBUB Institut de Biomedicina de la Universitat de Barcelona

The advent of next g.neration sequencing.Ng.) tech-niques has g.eatly simplified the molecular diag.osis and g.ne identification in very rare and hig.ly heterog.neous Mendelian disorders. Over the last two years, these approaches, especially whole exome sequencing.WES), alone or combined with homozyg.sity mapping.and linkag. analysis, have proved to be successful in the identification of more than 25 new causative retinal dystrophy g.nes. Ng.-approaches have also identified a wealth of new mutations in previously reported g.nes and have provided more comprehensive information concerning.the landscape of g.notype-phenotype correlations and the g.netic complexity/diversity of human control populations. Althoug. whole g.nome sequencing.is far more informative than WES, the functional meaning.of the g.netic variants identified by the latter can be more easily interpreted, and final diag.osis of inherited retinal dystrophies is extremely successful, reaching.80%, particularly for recessive cases. Even considering.the present limitations of WES, the reductions in costs and time, the continual technical improvements, the implementation of refined bioinformatic tools and the unbiased comprehensive g.netic information it provides, make WES a very promising.diag.ostic tool for routine clinical and g.netic diag.osis in the future.

关键词： Next g.neration sequencing Identification of novel causative g.nes Inherited retinal dystrophies g.netic diag.osis Whole exome sequencing

Multiplexed Biosensing.Diag.ostic Platforms Detecting.Autoantibodies to Tumor-Associated Antig.ns from Exosomes Released by CRC Cells and Tissue Samples Showed Hig. Diag.ostic Ability for Colorectal Cancer

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Eng.neering 2021年第10期7卷 1393-1412页

作者： Ana Montero-Calle Itziar Arang.ren-Abeig.n María g.rranzo-Asensio Carmen Poves María Jesús Fernández-Aceñero Javier Martínez-Useros Rodrig. Sanz Jana Dziaková Javier Rodrig.ez-Cobos g.illermo Solís-Fernández Eloy Povedano Maria g.mella Rebeca Mag.olia Torrente-Rodríg.ez Miren Alonso-Navarro Vivian de los Ríos J.Ig.acio Casal gemma Domíng.ez Ana g.zman-Arang.ez Alberto Peláez-g.rcía JoséManuel Ping.rrón Susana Campuzano Rodrig. Barderas Chronic Disease Prog.am(UFIEC) Carlos III Health InstituteMadrid E-28220Spain Department of Biochemistry and Molecular Biolog. Faculty of Optics and OptometryComplutense University of MadridMadrid E-28040Spain g.stroenterolog. Unit San Carlos Clinical HospitalMadrid E-28040Spain Surg.cal Patholog. Department San Carlos Clinical HospitalMadrid E-28040Spain Translational Oncolog. Division OncoHealth InstituteJimenez Diaz Foundation University HospitalMadrid E-28040Spain Department of Biochemistry Faculty of MedicineAlberto Sols Institute of Biomedical ResearchCSIC-UAMMadrid E-28029Spain Department of Analytical Chemistry Faculty of Chemical SciencesComplutense University of MadridMadrid E-28040Spain Center for Biolog.cal Research Spanish National Research Council(CSIC)MadridE-28040Spain Molecular Patholog. and Therapeutic Targ.ts g.oup La Paz University Hospital(IdiPAZ)Madrid E-28046Spain

Colorectal cancer(CRC)is the second leading.cause of cancer-related death *** five-year survival rate of CRC patients depends on the stag. at diag.osis,being.hig.er than 80%when CRC is diag.osed in the early stag.s but lower than 10%when CRC is diag.osed in advanced *** ag.inst specific CRC autoantig.ns(tumor-associated antig.ns(TAAs))in the sera of patients have been widely demonstrated to aid in early ***,we herein aim to identify autoantig.ns targ.t of autoantibodies specific to CRC that possess a sig.ificant ability to discriminate between CRC patients and healthy individuals by means of liquid *** that end,we examined the protein content of the exosomes released by five CRC cell lines and tissue samples from CRC patients by means of immunoprecipitation coupled with mass spectrometry analysis.A total of 103 proteins were identified as potential autoantig.ns specific to *** bioinformatics and meta-analysis,we selected 15 proteins that are more likely to be actual CRC autoantig.ns in order to evaluate their role in CRC prog.osis by Western blot(WB)and immunohistochemistry(IHC).We found dysreg.lation at the protein level for 11 of these proteins in both tissue and plasma exosome samples from patients,along.with an association of nine of these proteins with CRC *** validation,all but one showed a statistically sig.ificant hig. diag.ostic ability to disting.ish CRC patients and individuals with premalig.ant lesions from healthy individuals,either by luminescence Halotag.based beads,or by a multiplexed biosensing.platform involving.the use of mag.etic microcarriers as solid support modified with covalently immobilized Halotag.fusion proteins constructed for CRC *** tog.ther,our results hig.lig.t the usefulness of the approach defined here to identify the TAAs specific to chronic diseases;they also demonstrate that the measurement of autoantibody levels in plasma ag.inst the TAAs identified here

关键词： Autoantibodies Diag.osis Colorectal cancer Exosomes Tumor microenviroment Humoral immune response Point of care Biosensors

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新生儿眼结膜炎的处理

英国医学杂志中文版 2022年第9期25卷 515-518页

作者： gemma Susan Louise Manasseh Sajeevika Amarakoon Victoria Photiou Natalia Arruti Arundhati Dev Borman 刘王凯(译) Bristol Eye Hospital University Hospitals Bristol NHS Foundation TrustBristolUK Downend Health g.oup BristolUK Hospital Universitario La Paz MadridSpain 中山大学附属第一医院儿科

一名1周大的婴儿因眼睛发红、双侧有轻度脓性分泌物去看全科医生。该婴儿足月出生,经阴道自然分娩,生后无并发症。经检查,发现双眼有黄色分泌物,并有轻度结膜炎。婴儿的父母担心其眼睛发红的情况。该患者应如何处理?

关键词：全科医生脓性分泌物结膜炎无并发症婴儿足月眼睛发红经阴道自然分娩

几乎一半长期使用抗抑郁药的人可以停药而不复发

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英国医学杂志中文版 2022年第11期25卷 670-671页

作者： Helen Saul Deniz g.rsul Samantha Cassidy Larisa Duffy gemma Lewis Clyn Lewis 董碧野(译) NIHR Centrefor Eng.g.ment and Dissemination TwickenhamUK Division of Psychiatry University College LondonUK 不详

研究Duffy L,Clarke CS,Lewis g.et *** medication to prevent depression relapse in primary care:the ANTLER *** Technol Assess 2021;25:69.研究背景世界上有超过3亿人患有抑郁症。大多数人通过正确的治疗及支持手段已经康复,但是这些人中大概有一半在康复之后又复发了。抗抑郁药物会有副作用,包括消化不良及焦躁不安。副作用通常会随着时间的推移而改善。英国国家卫生与临床优化研究所的指南推荐,抗抑郁药物作为“支持”治疗可以使用长达两年以阻止抑郁症复发。

关键词：抗抑郁药物抑郁症焦躁不安消化不良 Duffy

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热应激--预防胜于治疗

国外畜牧学（猪与禽） 2021年第4期41卷 1-3页

作者：张文华(译) 陈骠骑(校) 潘雪男(审) 罗静如(制图) gemma Tedo Marta Blanch 不详

热应激是农场动物遭遇到的主要应激因子之一。当家畜遇到这种环境应激时,它们的健康、体况和生产性能可能会受到影响,如果影响严重,可能会导致死亡。在发生热应激之前采取多种措施是进行预防的关键。

关键词：热应激预防营养

Emerg.ncy laparotomy in octog.narians: A 5-year study of morbidity and mortality

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World Journal of g.strointestinal Surg.ry 2013年第7期5卷 216-221页

作者： gemma g.een Irshad Shaikh Roland Fernandes Henk Weg.tapel Department of Colorectal Surg.ry Medway Maritime HospitalGillingham ME7 5NY United Kingdom

AIM: To determine the morbidity and mortality associated with emerg.ncy laparotomy for a clinically acute abdomen in patients ag.d ≥ 80 years. METHODS: In this retrospective audit, octog.narians underg.ing.emerg.ncy laparotomy between 1st January 2005 and 1 st January 2010 were identified using.the g.laxy Theatre System. Patients underg.ing.abdominal surg.ry throug. g.oin crease incisions or Lanz or g.idiron incisions were excluded. Also simple appendectomies were excluded. All patients were ag.d 80 years or more at the time of their surg.ry. Data were obtained using.casenote review with a standardised proforma to determine patient ag., American Society of Anesthesiolog.sts (ASA) g.ade, indications for surg.ry, early (within 30 d) and late (after 30 d) complications, mortality and leng.h of stay. Data were inserted into a Microsoft Excel spreadsheet and analysed. RESULTS: One hundred patients were identified from the database (g.laxy) as having.underg.ne emerg.ncy laparotomy. Of those, 55 underwent the procedure for intestinal procedures and 37 for secondary *** was a 2:1 female predominance; averag. ag. 85 and ASA g.ade 3. Bowel resection was required in 51 out of the 100 patients and 22 (43%) died. Other procedures included appendicectomy, adhesiolysis, repair of AAA g.aft leak and colostomies for the patholog.cal process resulting.in an acute abdomen. Twelve of 100 patients (12%) suffered intra-operative complications, including.splenic and bowel-serosal tears. Seventy patients (70%) had postoperative complications including.myocardial infarction, wound infection, haematoma and sepsis. Overall mortality was 45/100 patients (45%). The major causes of death were sepsis (19/45 patients, 42%), underlying.cancer (13/45 patients, 29%); with others including.bowel obstruction (2/45 patients, 4%), myocardial and intestinal ischaemia and dementia. CONCLUSION: Emerg.ncy laparotomy in octog.narians carries a sig.ificant morbidity and mortality. In particular,

关键词： Laparotomy Perioperative care Ag.d Mortality Morbidity

广谱光稳定的无机防晒剂对保护皮肤免受由UV和近UV光引起的自由基损伤的预防

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广谱光稳定的无机防晒剂对保护皮肤免受由UV和近UV光引起的自由基...

第十届中国化妆品学术研讨会

作者： Robert M.Sayer Paul Staniland gemma L.Stansfield 康绮袁波 Croda Ditton Foundry Lane 禾大中国

UVB辐射的影响多年来已广为人知,而最近UVA辐射的潜在危害逐渐受到重视关注,新的皮肤研究表明近UV或HEV(高能量可见光)也可导致过早衰老、形成皱纹和DNA损伤。创新的电子自旋共振技术(ESR)已被用于研究受紫外和近紫外光辐射下,有机与无... 详细信息

UVB辐射的影响多年来已广为人知,而最近UVA辐射的潜在危害逐渐受到重视关注,新的皮肤研究表明近UV或HEV(高能量可见光)也可导致过早衰老、形成皱纹和DNA损伤。创新的电子自旋共振技术(ESR)已被用于研究受紫外和近紫外光辐射下,有机与无机防晒剂预防皮肤替代物中形成的自由基的功效。一个自旋捕截剂(5,5-二甲基-1-吡咯啉N-氧化物,DMPO)被用来作为自旋加合物,并延长了自由基在皮肤替代物中的存活时间。油包水防晒霜的配方含有对UVA/UVB不同衰减能力的二氧化钛(Ti O2)可用来保护皮肤不受损伤,并且研究了自由加合物数量。研究中,广谱光稳定的TiO 2与无保护的皮肤相比,自由基加合物减少了70%。在减少由于UV和近UV辐射而产生的自由基数量上,防晒剂的广谱保护显现出极端重要性。

关键词：紫外线UVA/UVB辐射红外和高能量可见光HEV辐射无机(物理)紫外线过滤剂二氧化钛TiO2 Solaveil

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马吉医疗中心英国伦敦

世界建筑导报 2020年第5期35卷 30-33页

作者：史蒂文·霍尔 Chris Mcvoy Dominik Sig. Bell Ying.Yi Cai gemma g.ne Martin Kropac ChristinaYessios Mag.alena Naydekova 史蒂文·霍尔建筑师事务所

马吉医疗中心位于伦敦市中心,毗邻圣巴托罗缪医院。这是伦敦最古老的医院,成立于12世纪,与它同时期的还有建立于1123年的圣巴托罗缪大教堂。雷希尔(Rahere)建立教堂和医院是为了帮助穷人。因此这块场地上有着不同层次的历史特征,与伦敦... 详细信息

马吉医疗中心位于伦敦市中心,毗邻圣巴托罗缪医院。这是伦敦最古老的医院,成立于12世纪,与它同时期的还有建立于1123年的圣巴托罗缪大教堂。雷希尔(Rahere)建立教堂和医院是为了帮助穷人。因此这块场地上有着不同层次的历史特征,与伦敦中世纪的历史文化紧密相连。

关键词：伦敦市中心不同层次紧密相连教堂医疗中世纪