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Chinese Medical Journal 2017年第20期130卷 2510-2512页

作者： Ting-Ting Zhao Yong-Sheng Wang Yan Li Miao Ma Ai-Mei Li Hou-Rong Cai Xiang-Shan Fan Fan-Qing Meng Li-Yun Miao Department of Respiratory Medicine The Affiliated Drum Tower Hospital of Nanjing University Medical School Nanjing Jiangsu 210008 China Department of Nuclear Medicine The Affiliated Drum Tower Hospital of Nanjing University Medical School Nanjing Jiangsu 210008 China Department of Pathology the Affiliated Drum Tower Hospital of Nanjing University Medical School Nanjing Jiangsu 210008 China

Chest computed tomography （CT） screening is becoming more popular in China. Therefore, more and more rare diseases and early stages of lung diseases were found. Here, we reported a case who presented as multiple ground glass nodules incidentally found in chest CT scan who had been suspected as synchronous multiple primary lung cancer （SMPLC） and/or metastatic cancer. She was finally diagnosed as tuberous sclerosis complex （TSC）, an autosomal-dominant disorder characterized by the fort-nation of hanaartomatous lesions in the skin, eyes, kidney, and central nervous system. Tuberous sclerosis complex 1 （TSC1） gene mutation （c.1030-1G〉A） was found in her and her family members. This is a very rare report in China.

关键词： Computed Tomography familial Multiple Nodules Tuberous Sclerosis: Tuberous Sclerosis 1 Gene Mutation

Alzheimer’s disease:a tale of two diseases?

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Neural Regeneration Research 2021年第10期16卷 1958-1964页

作者： Eleonora Nardini Ryan Hogan Anthony Flamier Gilbert Bernier Whitehead Institute for Biomedical Research CambridgeMAUSA Stem Cell and Developmental Biology Laboratory Hôpital Maisonneuve-RosemontMontrealQCCanada Department of Neurosciences University of MontrealMontrealQCCanada

Sporadic late-onset Alzheimer’s disease(SLOAD)and familial early-onset Alzheimer’s disease(FEOAD)associated with dominant mutations in APP,PSEN1 and PSEN2,are thought to represent a spectrum of the same disorder based on near identical behavioral and histopathological ***,FEOAD transgenic mouse models have been used in past decades as a surrogate to study SLOAD pathogenic mechanisms and as the gold standard to validate drugs used in clinical ***,such research has yielded little output in terms of therapeutics targeting the disease’s development and *** this short review,we interrogate the widely accepted view of one,dimorphic disease through the prism of the Bmi1+/–mouse model and the distinct chromatin signatures observed between SLOAD and FEOAD brains.

关键词： aging Alzheimer’s disease BMI1 epigenetics familial late-onset sporadic

Silymarin,boswellic acid and curcumin enriched dietetic formulation reduces the growth of inherited intestinal polyps in an animal model

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World Journal of Gastroenterology 2020年第14期26卷 1601-1612页

作者： Bruna Girardi Maria Pricci Floriana Giorgio Mariano Piazzolla Andrea Iannone Giuseppe Losurdo Mariabeatrice Principi Michele Barone Enzo Ierardi Alfredo Di Leo THD SpA Correggio 42015Italy Gastroenterology Section Department of Emergency and Organ TransplantationUniversity of BariBari 70124Italy

BACKGROUND Some substances of plant origin have been reported to exert an effect in reducing intestinal neoplasm development,especially in animal *** polyposis coli multiple intestinal neoplasia-ApcMin/+is the most studied murine model of genetic intestinal *** To assess whether an enriched nutritional formulation(silymarin,boswellic acid and curcumin)with proven“in vitro”and“in vivo”anti-carcinogenetic properties may prevent inherited intestinal cancer in animal *** Forty adenomatous polyposis coli multiple intestinal neoplasia-ApcMin/+mice were used for the study of cancer *** were divided into two groups:20 assumed standard and 20 enriched *** the 110th d animals were *** each group,four subgroups received intraperitoneal bromodeoxyuridine injection at different times(24,48,72 and 96 h before the sacrifice)in order to assess epithelial ***,we evaluated the following parameters:Intestinal polypoid lesion number and size on autoptic tissue,dysplasia and neoplasia areas by histological examination of the whole small intestine,inflammation by histology and cytokine mRNA expression by real-time polymerase chain reaction,bromodeoxyuridine and TUNEL immunofluorescence for epithelial turnover and apoptosis,***,we performed western blotting analysis for the expression of estrogen alpha and beta receptors,cyclin D1 and cleaved caspase 3 in normal and polypoid *** Compared to standard,enriched diet reduced the total number(203 vs 416)and the mean±SD/animal(12.6±5.0 vs 26.0±8.8;P<0.001)of polypoid *** enriched diet group a reduction in polyp size was observed(P<0.001).Histological inflammation and pro-inflammatory cytokine expression were similar in both *** of low-grade dysplasia(P<0.001)and intestinal carcinoma(IC;P<0.001)were significantly decreased in enriched diet *** was observed in 100%in standard and 85%in enriched formulation assumin

关键词： Intestinal cancer familial adenomatous polyposis Chemopreventive diet Apc^Min/+mice Boswellia Curcumin

Clinical relevance of cancer genome sequencing

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World Journal of Gastroenterology 2013年第13期19卷 2011-2018页

作者： Chee Seng Ku David N Cooper Dimitrios H Roukos Department of Medical Epidemiology and Biostatistics Karolinska Institute Institute of Medical Genetics School of MedicineCardiff University Department of Surgery Ioannina University School of Medicine Centre for Biosystems and Synthetic Genomic Network Medicine Centre for BioSystems and Genomic Network MedicineIoannina University

The arrival of both high-throughput and bench-top next-generation sequencing technologies and sequence enrichment methods has revolutionized our approach to dissecting the genetic basis of cancer. These technologies have been almost invariably employed in wholegenome sequencing (WGS) and whole-exome sequencing (WES) studies. Both WGS and WES approaches have been widely applied to interrogate the somatic mutational landscape of sporadic cancers and identify novel germline mutations underlying familial cancer syndromes. The clinical implications of cancer genome sequencing have become increasingly clear, for example in diagnostics. In this editorial, we present these advances in the context of research discovery and discuss both the clinical relevance of cancer genome sequencing and the challenges associated with the adoption of these genomic technologies in a clinical setting.

关键词： Next-generation sequencing Exome Cancer Diagnostics familial cancer syndrome Somatic mutation

Ileal-anal pouches: A review of its history, indications, and complications

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World Journal of Gastroenterology 2019年第31期25卷 4320-4342页

作者： Kheng-Seong Ng Simon Joseph Gonsalves Peter Michael Sagar John Goligher Colorectal Unit St.James’s University HospitalLeeds LS9 7TFUnited Kingdom Institute of Academic Surgery University of SydneyCamperdownNew South Wales 2050Australia Department of Colorectal Surgery Huddersfield Royal InfirmaryCalderdale and Huddersfield NHS Foundation TrustHuddersfield HD3 3EAUnited Kingdom

The ileal pouch anal anastomosis(IPAA)has revolutionised the surgical management of ulcerative colitis(UC)and familial adenomatous polyposis(FAP).Despite refinement in surgical technique(s)and patient selection,IPAA can be associated with significant *** the IPAA celebrated its 40th anniversary in 2018,this review provides a timely outline of its history,indications,and *** has undergone significant modification since *** both UC and FAP,IPAA surgery aims to definitively cure disease and prevent malignant degeneration,while providing adequate continence and avoiding a permanent *** majority of patients experience long-term success,but“early”and“late”complications are *** sepsis is a common early complication with far-reaching consequences of long-term pouch dysfunction,but prompt intervention(either radiological or surgical)reduces the risk of pouch *** in the absence of sepsis,pouch dysfunction is a longterm complication that may have a myriad of *** is a common cause that remains incompletely understood and difficult to manage at times.10%of patients succumb to the diagnosis of pouch failure,which is traditionally associated with the need for pouch *** review provides a timely outline of the history,indications,and complications associated with *** selection remains key,and contraindications exist for this surgery.A structured management plan is vital to the successful management of complications following pouch surgery.

关键词： Ileal pouch Restorative proctocolectomy Ulcerative colitis Crohn’s disease familial adenomatous polyposis

Strategies to promote the maturation of ALS-associated SOD1 mutants: small molecules return to the fold

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Neural Regeneration Research 2019年第9期14卷 1511-1512页

作者： Luke McAlary Justin J.Yerbury Illawarra Health and Medical Research Institute WollongongNSWAustralia School of Chemistry and Molecular Bioscience Molecular HorizonsFaculty of ScienceMedicine and HealthUniversity of WollongongNSWAustralia

(Cu)^IIATSM(CuATSM)promotes the proper folding of familial amyotrophic lateral sclerosis(fALS)-associated copper,zinc superoxide dismutase(SOD1):ALS is a progressive neurodegenerative disease that affects motor neurons in the cortex and spinal cord,resulting in paralysis and ultimately *** majority of cases are sporadic and the remainder are fALS where a subset of cases are associated with over 160,mostly missense,mutations in the SOD1 enzyme ***,these mutations impede the correct folding of SOD1 by disrupting either metal binding,disulfide formation,and/or dimerization,leading to the accumulation of misfolded SOD1 which can form the intracellular inclusions observed in patient tissue.

关键词： (Cu)^IIATSM(CuATSM) familial amyotrophic patient tissue

Application of genome analysis strategies in the clinical testing for pediatric diseases

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Pediatric Investigation 2018年第2期2卷 72-81页

作者： Yaqiong Jin Li Zhang Baitang Ning Huixiao Hong Wenming Xiao Weida Tong Yiran Tao Xin Ni Tieliu Shi Yongli Guo Beijing Key Laboratory for Pediatric Diseases of Otolaryngology Head and Neck Surgery MOE Key Laboratory of Major Diseases in Children Beijing Pediatric Research Institute Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China Center for Bioinformatics and Computational Biology and the Institute of Biomedical Sciences Shanghai Key Laboratory of Regulatory Biology the Institute of Biomedical Sciences and School of Life Sciences East China Normal University Shanghai China National Center for Toxicological Research U.S.Food and Drug Administration Jefferson AR USA

Next-generation sequencing (NGS) is being used in clinical *** authorities in both China and the United States are overseeing the clinical application of NGS instruments and *** addition,the US Association for Molecular Pathology and the College of American Pathologists have jointly released a guidance to standardize the analysis and interpretation of NGS data involved in clinical *** present,the analysis strategies and pipelines for NGS data related to the clinical detection of pediatric disease are similar to those used for adult ***,for rare pediatric diseases without linkage to known genetic variants,it is currently difficult to detect the relevant pathogenic genes using NGS ***,it is challenging to identify novel pathogenic genes of familial pediatric ***,characterization of the pathogenic genes associated with above diseases is important for the diagnosis and treatment of rare diseases in *** article introduces the general pipelines for NGS data analyses of diseases and elucidates data analysis strategies for the pathogenic genes of rare pediatric diseases and familial pediatric tumors.

关键词： familial pediatric tumors Next-generation sequencing Rare pediatric diseases

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致死性家族失眠症脑组织基因表达谱特点分析

中华实验和临床感染病杂志（电子版） 2014年第3期8卷 17-21页

作者：田婵刘翟孙清岚王荟范学宇许尹董小平中国疾病预防控制中心病毒病预防控制所朊病毒病室传染病预防控制国家重点实验室传染病诊断和治疗协同创新中心北京102206 中国科学院微生物研究所网络信息中心

目的研究致死性家族失眠症(FFI)脑组织基因表达谱特点。方法取3例FFI患者丘脑组织按照标准流程制备生物素标记的互补RNA,以正常人丘脑RNA为对照,利用人类基因组芯片U133+2.0检测FFI患者丘脑中差异表达基因,并分析差异基因表达特点。结... 详细信息

目的研究致死性家族失眠症(FFI)脑组织基因表达谱特点。方法取3例FFI患者丘脑组织按照标准流程制备生物素标记的互补RNA,以正常人丘脑RNA为对照,利用人类基因组芯片U133+2.0检测FFI患者丘脑中差异表达基因,并分析差异基因表达特点。结果共有1 314个差异表达基因,其中254个上调,1 060个下调。主要受影响的分子功能是转录、转录调节和电子转移链。改变最显著的信号通路是阿尔茨海默病、帕金森病和氧化磷酸化。结论 FFI改变了丘脑大量基因表达,其中受影响最显著的信号通路与其他神经退行性疾病相关。

关键词：致死性家族失眠症基因芯片信号通路 Fatal familial insomnia (FFI)

患家族性高胆固醇血症男性和女性颈动脉斑块形成的危险因素是否相同?

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中华高血压杂志 2017年第8期25卷 785-785页

作者：刘莉叶鹏 Malgorzata WM Danuta C Malgorzata KB Wiktoria W Maria K Maciej T

低密度脂蛋白胆固醇（low-density lipoprotein cholesterol,LDL-C）水平升高是家族性高胆固醇血症（familial hypercholesterolemia,FH）患者早期冠状动脉性心脏病（coronary heart disease,CHD）和死亡的主要原因。然而其对男性和女性的影响是否相同尚不确定。为了比较男性和女性FH患者颈动脉斑块（作为冠状动脉粥样硬化可靠的替代指标）的危险因素,

关键词：颈动脉斑块 cholesterol 替代指标 familial 载脂蛋白 apoB 风险降低他汀类药物 alanine

Etiology Profile of the Patients Implanted in the Cochlear Implant Program

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International Journal of Otolaryngology and Head & Neck Surgery 2015年第3期4卷 265-272页

作者： Saroj Mali Divij Sonkhya Mohnish Grover Nishi Sonkhya Department of ENT SMS Medical College and Hospital Jaipur India

Hearing loss in children constitutes a considerable handicap because it is an invisible disability and compromises optimal development and personal achievement of a child. The period from birth to 5 years of life is critical for the development of speech and language;therefore, there is need for early identification and assessment of hearing loss and early rehabilitation in infants and children. Cochlear implants are the treatment of choice for patients with severe to profound sensorineural hearing loss. The goal of the present study was to investigate the different hearing impairment etiologies of patients implanted in cochlear implant program. The hospital based interventional study was conducted in the Department of Otorhinolaryngology, SMS Medical College, Jaipur from July 2011 to Dec. 2013. Present study included 60 prelingually deafened patients who attended ENT OPD and underwent cochlear implant. The most common cause of deafness in our study was acquired (56.66%), which predominantly included perinatal risk factors (64.70%), followed by prenatal risk factors (41.17%). The second common cause was hereditary (26.66%), followed by unknown (16.66%). Infection and ototoxic drug history were the most common risk factors in prenatal and postnatal group. The most common perinatal cause was low birth weight and prematurity.

关键词： Hearing Impairment Cochlear Implant Congenital Sensorineural Hearing Loss familial Hearing Loss Syndromic Hearing Loss