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LDL-C rebound after long-term evolocumab treatment and intravascular imaging evidence in a familial hypercholesterolemia patient with early-onset myocardial infarction

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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

The diagnostic value of genetic testing in familial hypercholesterolemiainpatients with premature myocardial infarction

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China Medical Abstracts(Internal Medicine) 2024年第2期41卷 98-98页

作者：崔淯夏 Dept Cardiol Beijing Early Predict&Intervent Acute Myocard Infarct Key LabCardiovasc Translat Res CenterPeking Univ People's HospBeijing 100044

Objective To evaluate the diagnostic value of gene testing in familial hypercholesterolemia(FH)in patients with premature myocardial infarction(PMI).Methods This study was a single center cross-sectional study.A retrospective analysis was made on PMI patients who visited the People's Hospital of Peking University from May 1,2015 to March 31,*** data of patients were collected and gene testing of FH related genes lowdensity lipoprotei1nreceptor(LDLR),proprotein convertase subtilisin/kexin type 9(PCSK9),apolipoprotein B(APOB)and low density lipoprotein receptor adaptor protein 1(LDLRAP1)was carried *** diagnosis of FH patients was performed using Simon Broome criteria,DLCN criteria,and FH Chinese expert *** There were 188 males(83.6%)among 225 PMI patients,and the age of the first myocardial infarction was(46.6±7.2)years *** patients carried FH pathogenic or possibly pathogenic mutations(4.4%).Compared with Simon Broome standard,DLCN standard and FH Chinese expert consensus,gene testing increased the diagnostic rate of FH by 53.3%,33.3%and 42.1%respectively.

关键词： infarction testing familial

familial nasopharyngeal carcinomas possess distinguished clinical characteristics in southern China

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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

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

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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

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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 ***-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 *** 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 *** can also be used to obtain tissue ***,there is still limited evidence on the accuracy of imaging procedures used for screening or agreement on which patients to *** cost-effectiveness of screening is also *** 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

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

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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

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

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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 *** the past decades,single mutations in various genes encoding sarcomeric,cytoskeletal,and channel proteins *** 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 *** 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 *** 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 *** 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

Clinical Features of Primary familial Brain Calcification in 17 Families

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Chinese Medical Journal 2018年第24期131卷 2997-3000页

作者： Yuan-Tao Huang Li-Hua Zhang Mei-Fang Li Lin Cheng Jian Qu Yu Cheng Xi Li Guo-Ying Zou Hong-Hao Zhou Department of Clinical Pharmacology Xiangya Hospital Central South UniversityChangshaHunan 410008China Department of Otorhinolaryngology The Brain Hospital of Hunan ProvinceChangshaHunan 410007China Key Laboratory of Ophthalmology Zhongshan Ophthalmic CenterSun Yat-sen UniversityGuangzhouGuangdong 510060China Department of Pharmacy The Second Xiangya HospitalCentral South UniversityInstitute of Clinical PharmacyCentral South UniversityChangsha Hunan 410011China Department of Clinical Laboratory The Brain Hospital of Hunan ProvinceChangshaHunan 410007China

To the Editor:Primary familial brain calcification (PFBC) is a rare genetically degenerative disease that is generally characterized by symmetrical,bilateral calcinosis in the basal ganglia,thalamus,dentate nuclei,and other brain regions and mainly manifests with neurological and psychiatric symptoms. A growing number of studies have reported associations between this condition and pathogenic mutations,such as those in the SLC2OA2,PDGFRB,PDGFB,XPR1,and MYORG genes, Few studies have evaluated familial clinical characteristics, such as the volume of basal ganglia calcification (VBGC), and the results of clinical tests to determine serum levels of calcium (Ca),magnesium (Mg),phosphorus (P),iron (Fe), aluminum (A1),arsenic (As),cobalt (Co),parathyroid hormone (PTH),and calcitonin (Ct),or the relationship between patient age and the VBGC in PFBC.

关键词： Clinical Features Primary familial Brain Calcification

Anticipation phenomenon in familial adenomatous polyposis:an analysis of its origin

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World Journal of Gastroenterology 2000年第3期6卷 335-338页

作者： Takeo Iwama Joji Utsunomiya Department of Surgery Kyoundo HospitalSasaki Institute KandaSurugadai 1-8Chiyoda-KuTokyo 101-0062Japan Institute for Advanced Medical Sciences Hyogo Medical College Mukogawa 1-1NisinomiyaHyogo 663-8131Japan

AIM To analyze the origin of the anticipationphenomenon,which means earlier death insuccessive generation in familial *** The study subjects were 2161patients with familial adenomatous polyposisand their 7465 first-degree relatives who weremembers of 750 families registered at ourPolyposis *** ages at death andcumulative mortality rates in the parent,theproband,and the child generations werecompared for both all subjects and the *** In the patients over 5 years of age,the mean age at death was 50.9 years for theparent,42.3 years for the proband,and 33.3years for the child generations,respectively(Pfamilialadenomatous polyposis may be caused byparent-child paring methods as well as severalintergenerational biases.

关键词： familial adenomatous apolyposis (FAP) anticipation phenomenon intergenerational bias child generations hereditary disorder mortality