检索结果-南通市图书馆

Chronic Diseases and Translational Medicine 2024年第1期10卷 69-74页

作者： Zhifan Li Shuang Zhang Zheng Yin Wenjia Zhang Yonggang Sui Jianjun Li Kefei Dou Jie Qian Naqiong Wu Cardiometabolic Center National Center for Cardiovascular DiseasesFuwai HospitalChinese Academy of Medical Science and Peking Union Medical CollegeBeijingChina

Patients with Familial hypercholesterolemia(FH)have elevated low-density lipoprotein cholesterol(LDL-C)levels and are at high risk of premature cardiovascular disease.1 Heterozygous FH(HeFH)is one of the commonest genetic disorders,and is more frequent among those with ischemic heart disease(IHD),atherosclerotic cardiovascular disease(ASCVD)and premature IHD.

关键词： cardiovascular Familial elevated

PML nuclear bodies:new players in Familial amyotrophic lateral sclerosis-frontotemporal dementia?

在线全文

学校读者我要写书评

暂无评论

Neural Regeneration Research 2024年第9期19卷 1875-1876页

作者： Anand Goswami Serena Carra Institute of Neuropathology RWTH Aachen University HospitalAachenGermany Department of Neurology Eleanor and Lou Gehrig ALS CenterColumbia UniversityNew YorkNYUSA Department of Biomedical Metabolic and Neural SciencesUniversity of Modena and Reggio EmiliaModenaItaly

Amyotrophi c lateral s c lerosis(ALS)and frontotemporal dementia(FTD)are two closely related disorders with overlapping clinical,genetic,and neuropathological features,forming a continuous disease spectrum(Ling et al.,2013).The major pathological hallmark of ALS and FTD are the depletion from the nucleus of the RNA-binding proteins TAR DNA‐binding protein 43(TDP-43)and FUsed in Sarcoma(FUS)and their abnormal accumulation in ubiquitin-positive cytoplasmic inclusions(Ling et al.,2013).

关键词： clinical Familial

Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced Familial dilated cardiomyopathy

在线全文

学校读者我要写书评

暂无评论

Protein & Cell 2022年第1期13卷 65-71页

作者： Bin Li Yongkun Zhan Qianqian Liang Chen Xu Xinyan Zhou Huanhuan Cai Yufan Zheng Yifan Guo Lei Wang Wenqing Qiu Baiping Cui Chao Lu Ruizhe Qian Ping Zhou Haiyan Chen Yun Liu Sifeng Chen Xiaobo Li Ning Sun Department of Physiology and Pathophysiology State Key Laboratory of Medical NeurobiologySchool of Basic Medical SciencesFudan UniversityShanghai 200032China Shanghai Institute of Precision Medicine Ninth People's HospitalShanghai Jiao Tong University School of MedicineShanghai 200025China Shanghai Key Lab of Birth Defect Children's Hospital of Fudan UniversityShanghai 201102China Shanghai Key Laboratory of Clinical Geriatric Medicine Research Center on Aging and MedicineFudan UniversityShanghai 200032China Department of Echocardiography Zhongshan HospitalFudan UniversityShanghai 200032China Department of Biochemistry School of Basic Medical SciencesFudan UniversityShanghai 200032China

Dear Editor,Dilated cardiomyopathy(DCM)is a common form of inherited cardiomyopathy.In the past decades,single mutations in various genes encoding sarcomeric,cytoskeletal,and channel proteins etc.have been found to be associated with DCM(Hershberger et al.,2013;McNally and Mestroni,2017).However,the mechanisms how single mutations in sarcomeric or structural genes lead to the disease remain elusive.An interesting phenomenon often seen in Familial cardiomyopathy is that different single mutations on the same gene can cause either DCM or hypertrophic cardiomyopathy(HCM)(Kathiresan and Srivastava,2012),which exhibit almost opposite disease phenotypes.DCM is characterized by thinned myocardium and septum,ventricular chamber dilation,and systolic dysfunction(Jefferies and Towbin,2010;McNally and Mestroni,2017),while HCM exhibits thickened myocardium and septum,reduced ventricular chamber,and diastolic dysfunction(Richard et al.,2003).At the cellular level,HCM cardiomyocytes exhibit concentric hypertrophy characterized by assembly of myofilaments in parallel and widening of the myocytes.In contrast,DCM cardiomyocytes show eccentric hypertrophy,with assembly of the myofilaments in series and myocyte elongation(Kehat and Molkentin,2010).

关键词： cardiomyopathy Familial

Variants in the Wnt co-receptor LRP6 are associated with Familial exudative vitreoretinopathy

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Journal of Genetics and Genomics 2022年第6期49卷 590-594页

作者： Shujin Li Mu Yang Yunqi He Xiaoyan Jiang Rulian Zhao Wenjing Liu Lulin Huang Yi Shi Xiao Li Kuanxiang Sun Yeming Yang Periasamy Sundaresan Peiquan Zhao Zhenglin Yang Xianjun Zhu Sichuan Provincial Key Laboratory for Human Disease Gene Study Center for Medical GeneticsSichuan Provincial People’s HospitalUniversity of Electronic Science and Technology of ChinaChengduSichuan 610072China Natural Products Research Center Institute of Chengdu BiologySichuan Translational Medicine HospitalChinese Academy of SciencesChengduSichuan 610072China Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences(2019RU026) Sichuan Academy of Medical Sciences&Sichuan Provincial People’s HospitalChengduSichuan 610072China Department of Genetics Aravind Medical Research FoundationAravind Eye HospitalMaduraiIndia Department of Ophthalmology Xinhua Hospital Affiliated to Shanghai Jiaotong University School of MedicineShanghai 200092China Henan Eye Institute Henan Eye HospitalPeople’s Hospital of Zhengzhou UniversityHenan Provincial People’s HospitalZhengzhouHenan 450003China

Familial exudative vitreoretinopathy(FEVR),an inherited eye disease,is characterized by abnormal retinal vascular development,such as neovascularization,vitreous hemorrhage,exudation,and retinal detachment(Criswick and Schepens,1969;Robitaille et al.,2002).FEVR is inherited as autosomal dominant,autosomal recessive,and X-linked patterns(de Crecchio et al.,1998).

关键词： Familial vitreoretinopathy

Bullous pemphigoid developed in a patient with chronic benign Familial pemphigus

在线全文

学校读者我要写书评

暂无评论

Chinese Medical Journal 2022年第15期135卷 1889-1890页

作者： Yuqing Hu Jiang Jin Jianzhong Zhang Department of Dermatology Peking University People's HospitalBeijing 100044China

To the Editor:Chronic benign Familial pemphigus,or Hailey-Hailey disease(HHD),is an inherited acantholytic dermatosis characterized by chronic recurrent vesicles and maceration in intertriginous sites.l Bullous pemphigoid(BP)is an autoimmune subepidermal blistering.disease.2i We reported a patient with clinical and histological features of BP and HHD.

关键词： Familial patient chronic

A case of Familial incontinentia pigmenti in infancy without hyperpigmented stage

在线全文

学校读者我要写书评

暂无评论

Pediatric Investigation 2023年第3期7卷 220-221页

作者： Yumeng Wang Xinyi Wang Ting Chen Chaolan Pan Ming Li Dermatology Center Xinhua HospitalShanghai Jiao Tong University School of MedicineShanghaiChina Department of Dermatology Xinhua HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina Institute of Dermatology School of MedicineShanghai Jiao Tong UniversityShanghaiChina Department of Dermatology Minhang HospitalFudan UniversityShanghaiChina Department of Dermatology Affiliated Shenzhen Maternity&Child Healthcare HospitalSouthern Medical UniversityGuandongChina Department of Dermatology Children’s Hospital of Fudan UniversityShanghaiChina

To the editor:Incontinentia pigmenti(IP)is a rare X-linked dominant neuroectodermal disorder primarily caused by mutations in the IKBKG(NEMO)gene.Cutaneous manifestations of IP typically progress through four stages:inflammatory(or vesicular)stage,verrucous stage,hyperpigmented stage,and hypopigmented(or atropic)stage.^(1)Throughout the disease course,most cases develop linear or whorled brownish reticular pigmentation following the lines of Blaschko.Additionally,some patients experience linear hypopigmentation and absence of hair,usually during adolescence.Here,we report a rare manifestation of this disease.

关键词： continent Familial editor

Genetic characterization of a Chinese family with Familial idiopathic pulmonary fibrosis

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Chinese Medical Journal 2012年第11期125卷 1945-1951页

作者： ZHANG Xin JIANG Jun CHEN Wei-jun SU Long-xiang XIE Li-xin Department of Respiratory Medicine Hainan Branch of Chinese People's Liberation Army General HospitalSanyaHainan 572000China Department of Respiratory Medicine Chinese People's Liberation Army General HospitalBeijing 100853China Beijing Institute of Gcnomics Chinese Academy of SciencesBeijing 100101China

Background Idiopathic pulmonary fibrosis （IPF） is a chronic inflammatory interstitial lung disease with an unknown cause. Recent studies have shown that genetic factors play an important role in the pathogenesis of IPF. Methods To explore the genetic background of patients with IPF, a candidate gene approach was employed to screen for mutations in seven genes among members with Familial IPF in mainland of China. Results Within six of the candidate genes, a total of 31 point mutations were identified. Among the missense mutations, the SFTPA1 exon 6 CAG〉AAG （GIn238Lys） and SFTPB exon 2 CAC〉CCC （His2Pro） mutations caused changes in the physical and chemical properties of amino acids. Each sequence alteration was identified in sporadic IPF patients, control specimens （pneumonia patients and healthy persons）. Genotype frequencies and allele frequencies of codon 238 in exon 6 of SFTPA1 were noted significantly higher in patients with IPF than those in other two control subjects. The computational protein structure prediction by protein homology modeling confirmed differences in three-dimensional structure between mutant SFTPA1 and original SFTPAI. Conclusions Although the functions of the mutant candidate genes vary, these genes may ultimately result in damage to alveolar epithelial cells, initiating the progress of pulmonary fibrosis. In particular, while pathophysiological mechanisms need to be illustrated, the GIn238Lys missense variant of exon 6 in the SFTPA1 may have potential susceptibility in the development of IPF, which was shown in patients with sporadic IPF with a statistically higher frequency.

关键词： idiopathic pulmonary fibrosis Familial interstitial lung disease genetics Chinese

Characterization of coronary atherosclerotic plaques in a homozygous Familial hypercholesterolemia visualized by optical coherence tomography

在线全文

学校读者我要写书评

暂无评论

Journal of Geriatric Cardiology 2018年第12期15卷 738-743页

作者： Ze-Sen LIU Jie PENG Shi-Long WANG Tao JIANG Jie LIN Kang MENG Department of Cardiology Beijing Anzhen Hospital.Capital Medical UniversityBeijingChina Department of Atherosclerosis.Beijing Anzhen Hospital Capital Medical UniversityBeijingChina Department of Radiology Beijing Anzhen HospitalCapital Medical UniversityBeijingChina

Familial hypercholesterolemia(FH)is an autosomal dominant genetic disorder,which resulted in severe elevations in low-density lipoprotein cholesterol(LDL-C)and a markedly increased risk of early-onset coronary disease.[1]t is most frequently caused by loss-of-function mutations in genes affecting the LDL receptor,which clears LDL particles from plasma.

关键词： Coronary atherosclerotic plaques Homozygous Familial hypercholesterolemia Optical coherence tomography

Role of endoscopic ultrasound in the screening and follow-up of high-risk individuals for Familial pancreatic cancer

在线全文

学校读者我要写书评

暂无评论

World Journal of Gastroenterology 2019年第34期25卷 5082-5096页

作者： Diane Lorenzo Vinciane Rebours Frédérique Maire Maxime Palazzo Jean-Michel Gonzalez Marie-Pierre Vullierme Alain Aubert Pascal Hammel Philippe Lévy Louis de Mestier Pancreatology Department Beaujon HospitalAssistance Publique-Hopitaux de ParisClichyand Paris Diderot UniversityParis 75013France INSERM UMR1149Paris 92110France Departement of Gastroenterology Aix Marseille university-APHM-Hopital NordMarseille 13000France Radiology Department Beaujon HospitalAssistance Publique-Hopitaux de ParisClichyand Paris Diderot UniversityParis 92110France Oncology Department Beaujon HospitalAssistance Publique-Hopitaux de ParisClichyand Paris Diderot UniversityParis 92110France

Managing Familial pancreatic cancer(FPC)is challenging for gastroenterologists,surgeons and oncologists.High-risk individuals(HRI)for pancreatic cancer(PC)(FPC or with germline mutations)are a heterogeneous group of subjects with a theoretical lifetime cumulative risk of PC over 5%.Screening is mainly based on annual magnetic resonance imaging(MRI)and endoscopic ultrasound(EUS).The goal of screening is to identify early-stage operable cancers or high-risk precancerous lesions(pancreatic intraepithelial neoplasia or intraductal papillary mucinous neoplasms with high-grade dysplasia).In the literature,target lesions are identified in 2%-5%of HRI who undergo screening.EUS appears to provide better identification of small solid lesions(0%-46%of HRI)and chronicpancreatitis-like parenchymal changes(14%-77%of HRI),while MRI is probably the best modality to identify small cystic lesions(13%-49%of HRI).There are no specific studies in HRI on the use of contrast-enhanced harmonic EUS.EUS can also be used to obtain tissue samples.Nevertheless,there is still limited evidence on the accuracy of imaging procedures used for screening or agreement on which patients to treat.The cost-effectiveness of screening is also unclear.Certain new EUS-related techniques,such as searching for DNA abnormalities or protein markers in pancreatic fluid,appear to be promising.

关键词： Endoscopic ultrasound Familial pancreatic cancer Fine-needle aspiration Intraductal papillary mucinous neoplasm Pancreatic cancer Pancreatic intraepithelial neoplasia Pancreatic cancer screening guidelines

Familial nasopharyngeal carcinomas possess distinguished clinical characteristics in southern China

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Chinese Journal of Cancer Research 2014年第5期26卷 543-549页

作者： Su-Mei Cao Sui-Hong Chen Chao-Nan Qian Qing Liu Yun-Fei Xia State Key Laboratory of Oncology in South China and Department of Cancer Prevention Research Sun Yat-Sen University Cancer Center State Key Laboratory of Oncology in South China and Department of Nasopharyngeal Carcinoma Sun Yat-Sen University Cancer Center State Key Laboratory of Oncology in South China and Department of Radiation Oncology Sun Yat-Sen University Cancer Center

Objective： To compare clinical characteristics between Familial nasopharyngeal carcinomas（NPCs） and sporadic NPCs in Guangdong province, China, a high-risk area.Methods： Between 1991 and 2001, 993 NPC patients treated at the Cancer Center of Sun Yat-Sen University in Guangdong were randomly selected as probands. Information about NPC among the probands＇ relatives and other information were obtained from a retrospective review of the patients＇ medical records. The patients were divided into sporadic NPC, low-frequency Familial NPC（one NPC patient in addition to the proband in three generations）, and high-frequency Familial NPC（2 or more additional NPC patients in three generations） groups. Pathological and clinical characteristics were compared among these groups.Results： Of the 993 patients, 131（13.2%） had a Familial history of NPC. The average age at diagnosis was the lowest in the high-frequency Familial NPC group（39 years; P=0.048）. Although the overall survival（OS）, distant metastasis-free survival（DMFS）, and disease-free survival（DFS） rates did not differ between Familial and sporadic NPCs, the locoregional recurrence-free survival（LRFS） rate increased in the order sporadic NPCs, low-frequency Familial NPCs, and high-frequency Familial NPCs（P=0.009）, with 5-year rates of 70%, 83%, and 87%, respectively. Multivariate analysis showed that family history of NPC was an independent favorable prognostic factor for LRFS, with adjusted hazard ratio（a HR） of 0.548, 95% CI（0.342-0.878）. The high LRFS for Familial NPCs was mainly noted among young, advanced-stage patients who received continuous radiation treatment.Conclusions： Genetic factors may play an important role in the etiology of high-frequency Familial NPC and underlie the early age of onset and sensitivity to radiotherapy.

关键词： Nasopharyngeal carcinoma（NPC） Familial clinical behavior