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Unusual presentation of Erdheim-Chester disease in a child with acute lymphoblastic leukemia

Open Journal of Epidemiology（流行病学期刊） 2012年第1期

作者： sameer Murali Lenore Arab alfonso Ang Casey Nelson Katherine Wessling-Perry Patricia Jardack Ronald L. Horst

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World Journal of Radiology 2016年第8期8卷 757-763页

作者： Archana George Vallonthaiel Asit Ranjan Mridha Shivanand Gamanagatti Manisha Jana Mehar Chand Sharma Shah alam Khan sameer Bakhshi Department of Pathology All India Institute of Medical Sciences Department of Radiodiagnosis All India Institute of Medical Sciences Department of Orthopaedics All India Institute of Medical Sciences Medical Oncology All India Institute of Medical Sciences

Erdheim-Chester disease(ECD) is an uncommon, nonfamilial, non-Langerhans cell histiocytosis, which involves skeletal system and soft tissue usually in middle aged and elderly patients. The characteristic radiologic features include bilateral, symmetric cortical osteosclerosis of the diaphyseal and metaphyseal parts of the long bones, or bilateral symmetrically abnormal intense 99 mTechnetium labelling of the metaphyseal-diaphyseal region of the long bones, and computed tomography scan findings of "coated aorta" or "hairy kidneys". ECD in childhood with osteolytic lesion is extremely rare. We describe an unusual case with an expansile lytic bone lesion at presentation in a case of acute lymphoblastic leukemia.

关键词： Erdheim-Chester disease Osteolytic lesion Bone Acute lymphoblastic leukemia

Identification of new genetic risk factors for prostate cancer

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Asian Journal of Andrology 2009年第1期11卷 49-55页

作者： Michelle Guy Zsofia Kote-Jarai Graham G. Giles ali Amin al Olama Sarah K. Jugurnauth Shani Mulholland Daniel A. Leongamomlert Stephen M. Edwards Jonathan Morrison Helen I. Field Melissa C. Southey Gianluca Severi Jenny L. Donovan Freddie C. Hamdy David R Dearnaley Kenneth R. Muir Charmaine Smith Melisa Bagnato Audrey T. Ardern-Jones Amanda L. Hall Lynne T. O＇Brien Beatrice N. Gehr-Swain Rosemary A. Wilkinson Angela Cox Sarah Lewis Paul M. Brown sameer G. Jhavar Malgorzata Tymrakiewicz Artitaya Lophatananon Sarah L. Bryant The UK Genetic Prostate Cancer Study Collaborators British Association of Urological Surgeons＇ Section of Oncology and The UK ProtecT Study Collaborators alan Horwich Robert A. Huddart Vincent S. Khoo Christopher C. Parker Christopher J. Woodhouse alan Thompson Tim Christmas Chris Ogden Cyril Fisher Charles Jameson Colin S. Cooper Dallas R. English John L. Hopper David E. Neal Douglas E Easton Rosalind A. Eeles Section of Cancer Genetics The Institute of Cancer Research Sutton Surrey SM2 5NG UK Cancer Epidemiology Centre The Cancer Council Victoria Carlton VIC 3053 Australia Centre for Molecular Environmental Genetic and Analytic Epidemiology The University of Melbourne Carlton VIC 3053 Australia Cancer Research UK Genetic Epidemiology Unit University of Cambridge Strangeways Laboratory Worts Causeway Cambridge CB1 8RN UK Department of Oncology University of Cambridge Strangeways Laboratory Worts Causeway Cambridge CB1 8RN UK Genetic Epidemiology Laboratory Department of Pathology The University of Melbourne Parkville VIC 3052 Australia Department of Social Medicine University of Bristol Bristol BS8 2PR UK Academic Urology Unit University of Sheffield Sheffield SIO 2JF UK The Royal Marsden NHS Foundation Trust Sutton Surrey SM2 5PT and London SW3 6JJ UK University of Nottingham Medical School Queens Medical Centre Nottingham NG7 2UH UK Institute for Cancer Studies University of Sheffield Sheffield SIO 2RX UK Surgical Oncology （Uro-Oncology S4） Departments of Oncology and Surgery University of Cambridge Addenbrooke＇s Hospital Cambridge CB2 2QQ UK A full list of authors is provided in the Supplementary Note online Ka Shing Centre Cambridge CB2 ORE UK Cancer Research UK Cambridge Research Institute Li Ka Shing Centre Cambridge CB2 ORE UK.

There is evidence that a substantial part of genetic predisposition to prostate cancer （PCa） may be due to lower penetrance genes which are found by genome-wide association studies. We have recently conducted such a study and seven new regions of the genome linked to PCa risk have been identified. Three of these loci contain candidate susceptibility genes： MSMB, LMTK2 and KLK2/3. The MSMB and KLK2/3 genes may be useful for PCa screening, and the LMTK2 gene might provide a potential therapeutic target. Together with results from other groups, there are now 23 germline genetic variants which have been reported. These results have the potential to be developed into a genetic test. However, we consider that marketing of tests to the public is premature, as PCa risk can not be evaluated fully at this stage and the appropriate screening protocols need to be developed. Follow-up validation studies, as well as studies to explore the psychological implications of genetic profile testing, will be vital prior to roll out into healthcare.

关键词： prostate cancer genetics susceptibility loci SNPs relative risks

Predictors of suboptimal bowel preparation in asymptomatic patients undergoing average-risk screening colonoscopy

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World Journal of Gastrointestinal Endoscopy 2016年第17期8卷 616-622页

作者： Shail M Govani Eric E Elliott Stacy B Menees Stephanie L Judd sameer D Saini Constantinos P Anastassiades Annette L Urganus Suzanna J Boyce Philip S Schoenfeld Department of Internal Medicine University of Michigan Ann Arbor MI 48109 United States VA Ann Arbor Healthcare System Ann Arbor MI 48109 United States Center for Clinical Managmenent Research VA Ann Arbor Healthcare System Ann Arbor MI 48109 United States Department of Internal Medicine Wayne State University Detroit MI 48202 United States Division of Gastroenterology Case Western Reserve University Hospital Cleveland OH 44106United States Department of Internal Medicine Duke University Durham NC 27708 United States

AIM To identify risk factors for a suboptimal preparation among a population undergoing screening or surveillance *** Retrospective review of the University of Michigan and Veteran's Administration(VA) Hospital records from 2009 to identify patients age 50 and older who underwent screening or surveillance procedure and had resection of polyps less than 1 cm in size and no more than 2 polyps. Patients with inflammatory bowel disease or a family history of colorectal cancer were excluded. Suboptimal procedures were defined as procedure preparations categorized as fair, poor or inadequate by the endoscopist. Multivariable logistic regression was used to identify predictors of suboptimal *** Of 4427 colonoscopies reviewed, 2401 met our inclusion criteria and were analyzed. Of our population, 16% had a suboptimal preparation. African Americans were 70% more likely to have a suboptimal preparation(95%CI: 1.2-2.4). Univariable analysis revealed that narcotic and tricyclic antidepressants(TCA) use, diabetes, prep type, site(VA vs non-VA), and presence of a gastroenterology(GI) fellow were associated with suboptimal prep quality. In a multivariable model controlling for gender, age, ethnicity, procedure site and presence of a GI fellow, diabetes [odds ratio(OR) = 2.3; 95%CI: 1.6-3.2], TCA use(OR = 2.5; 95%CI: 1.3-4.9), narcotic use(OR = 1.7; 95%CI: 1.2-2.5) and Miralax-Gatorade prep vs 4L polyethylene glycol 3350(OR = 0.6; 95%CI: 0.4-0.9) were associated with a suboptimal prep quality. CONCLUSION Diabetes, narcotics use and TCA use were identified as predictors of poor preparation in screening colonoscopies while Miralax-Gatorade preps were associated with better bowel preparation.

关键词： preparation quality narcotics diabetes Colonoscopy

Adenocarcinoma arising at ileostomy sites:Two cases and a review of the literature

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World Journal of Gastrointestinal Surgery 2015年第6期7卷 94-97页

作者： Lauren Procaccino sameer Rehman alexander Abdurakhmanov Peter McWhorter Nicholas La Gamma Madhu C Bhaskaran James Maurer Gregory M Grimaldi Horacio Rilo Jeffrey Nicastro Gene Coppa Ernesto P Molmenti John Procaccino Department of Surgery North Shore University Hospital

Total colectomy with ileostomy placement is a treatment for patients with inflammatory bowel disease or familial adenomatous polyposis(FAP). A rare and late complication of this treatment is carcinoma arising at the ileostomy site. We describe two such cases: a 78-year-old male 30 years after subtotal colectomy and ileostomy for FAP, and an 85-year-old male 50 years after colectomy and ileostomy for ulcerative colitis. The long latency period between creation of the ileostomies and development of carcinoma suggests a chronic metaplasia due to an irritating/inflammatory causative factor. Surgical excision of the mass and relocation of the stoma is the mainstay of therapy, with possible benefits from adjuvant chemotherapy. Newly developed lesions at stoma sites should be biopsied to rule out the possibility of this rare ileostomy complication.

关键词： Ileostomy Carcinoma Adenocarcinoma Familial adenomatous polyposis Inflammatory boweldisease Complication of ileostomy

三环咔唑生物碱Neocarazostatin A生物合成中特殊的异戊烯基化和羟基化修饰

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科学新闻 2016年第1期 136-136页

作者：黄胜 Somayah sameer Elsayed Meinan Lv Jioji Tabudravu Mostafa E.Rateb Roland Gyampoh Kwaku Kyeremeh Rainer Ebel Marcel Jaspars Zixin Deng 虞沂 Hai Deng 武汉大学药学院湖北民族学院医学院

文章简介Neocarazostatin A是微生物来源三环咔唑生物碱家族的代表性化合物,具有很强的自由基清除活性。同位素喂养实验显示其生物合成前体完全不同于已报道的植物来源咔唑碱,因此引起了科学家们的浓厚兴趣。研究人员通过化学挖掘、基... 详细信息

文章简介Neocarazostatin A是微生物来源三环咔唑生物碱家族的代表性化合物,具有很强的自由基清除活性。同位素喂养实验显示其生物合成前体完全不同于已报道的植物来源咔唑碱,因此引起了科学家们的浓厚兴趣。研究人员通过化学挖掘、基因敲除、酶的体外功能表征等手段,对Neocarazostatin A的生物合成途径进行了深入解析。研究结果证明,Neocarazostatin A的生物合成起始于色氨酸,后者经过一系列复杂的生化反应完成咔唑骨架的组装,再经过脱羧、环化、重排等一系列

关键词：生物合成生化反应咔唑生物碱 Neocarazostatin A

关于与青光眼疾病严重性相关的资源使用和成本的一项多中心回顾性试验研究

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美国医学会眼科杂志（中文版） 2006年第4期18卷 254-254页

作者： Paul P. Lee John G. Walt John J. Doyle sameer V. Kotak Stacy J. Evans Donald L. Budenz Philip P. Chen Anne L. Coleman Robert M. Feldman HenRY D. Jampel L.Jay Katz Richard P.Mills Jonathan S.Myers Robert J.Noecker Jody R.Piltz-Seymour Robert R.Ritch Paul N.Schacknow Janet B.Serle Gary L.Trick 范翔（译）

目的：调查在不同疾病严重程度上青光眼治疗的资源消耗和直接成本。设计：基于医学档案综述的观察性、回顾性的队列研究。

关键词：青光眼治疗直接成本资源消耗疾病严重性试验研究疾病严重程度医学档案