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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

Clinicopathologic Features of familial Nonmedullary Thyroic Carcinoma

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Chinese Medical Journal 2015年第8期128卷 1037-1041页

作者： Yu-Fang Fan Bo Zhang Xiao Yang Zhong-Hua Shang Hong-Feng Liu Yong Xie Yue-Wu Liu Wei-Sheng Gao Qiong Wu Xiao-Yi Li Department of General Surgery Peking Union Medical College Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing 100730 China Department of Ultrasound Peking Union Medical College Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing 100730 China Department of General Surgery Second Clinical Hospital of Shanxi Medical University raiyuan Shanxi 030001 China

Background： familial nonmedullary thyroid carcinoma （FNMTC） is a variant of nonmedullary thyroid carcinoma（NMTC） with particular clinicopathologic features. In recent years, a number of studies have shown that FNMTC is more invasive than sporadic NMTC（SNMTC）. The purpose of this study was to explore the differences in clinicopathologic features of FNMTC between different types of families and to determine in which of these families more invasive FNMTC occurred. Methods： We retrospectively reviewed all patients with thyroid carcinoma admitted to Peking Union Medical College Hospital from January 2009 to July 2013 in the database. Of all 2000 cases, 55 met the inclusive criteria for FNMTC and were studied. There are two different grouping methods. The first is that all samples were allocated to families with three or more first-degree relatives affected （FNMTC-3 group） and families with only two affected first-degree relatives （FNMTC-2 group）. The second is that all patients were divided into families with three or more affected first-degree relatives over two generations （FNMTC-3-2 group） and the other families. We compared the clinicopathologic features such as sex, age, tumor size, multifocality, location, complications by thyroiditis, complications by benign thyroid nodules, surgical procedure, capsule invasion, histological type, lymph node metastases, tumor node metastasis stage, and BRAF mutation between FNMTC-2 group and FNMTC-3 group. We also made the same comparison between FNMTC-3-2 group and other families. Results： No pronounced differences in clinicopathological features were present between FNMTC-2 group and FNMTC-3 group. The proportion of FNMTC-3-2 group aged 〈45 years was significantly higher than that in the other families （58.8% vs. 26.3%, P = 0.021）. A similar difference was found in the proportion of lymph node metastasis （64.7% vs. 34.2%, P = 0.035）. Conclusions： FNMTC-3-2 is more invasive than the other families. Early screening and positive tr

关键词： Clinical Pathology familial Nonmedullary Thyroid Carcinoma

Identification and 3D architecture analysis of the LIPC gene mutation in a pedigree with familial hypercholesterolemia-like phenotype

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China Medical Abstracts(Internal Medicine) 2023年第3期40卷 157-158页

作者：张航 Dept Atheroscl Beijing Anzhen HospCapital Med UnivBeijing Instit HeartLung and Blood Vessel DisBeijing 100029

Objective To identify and analyze 3D architecture of the mutational sites of susceptible genes in a pedigree with familial hypercholesterolemia-like phenotype(FHLP).Methods This is a case series study.A pedigree with suspected familial hypercholesterolemia was *** proband was admitted in Beijing Anzhen Hospital in April ***-exome sequencing was performed to determine the mutational sites of susceptible genes in the *** chain reaction(PCR)sequencing was used to verify the pathogenic variant on proband’s relatives.

关键词： admitted familial Whole

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

Impact of orthotopic liver transplantation on serum lipid level and growing development in patients with homozygous or compound heterozygous familial hypercholesterolemia

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中国医学文摘:内科学分册(英文版) 2023年第2期40卷 96-97页

作者：陈沛沛 Dept Cardiol PUMC&CAMSBeijing 100730

Objective To investigate the impact of orthotopic liver transplantation on serum lipid and growing development in patients with homozygous(HoFH)or compound heterozygotes(cHeFH)familial *** Patients who were treated in... 详细信息

关键词： patients familial serum

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

A new form of familial platelet disorder caused by germline mutations in RUNX1 in a pedigree

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中国医学文摘:内科学分册(英文版) 2023年第2期40卷 123-124页

作者：关军 Dept Hematol Wuhan No.1 HospWuhan 430022

Objective To investigate the clinical and biological characteristics of familial platelet disorder(FPD)with germline Runt-related transcription factor(RUNX)1 *** Patients diagnosed with myelodysplastic syndrome(MDS)or acute myeloid leukemia(AML)with RUNX1 mutations from February 2016 to December 2021 in Wuhan No.1 Hospital underwent pedigree analysis and were screened for gene mutations(somatic and germline).

关键词： RUNX1 familial acute

Molecular genetic studies of familial Meniere’s disease

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Science China(Life Sciences) 2019年第11期62卷 1557-1560页

作者： Jing Zhang Jing Guan Hongyang Wang Dayong Wang Lidong Zhao Huifang Zhou Qiuju Wang Chinese PLA Institute of Otolaryngology Chinese PLA General HospitalMedical School of Chinese PL ABeijing 100853China Department of Otolaryngology of Tianjin Medical University General Hospital Tianjin 300052China

Dear ***'s disease(MD,MIM 156000),a chronic clinical illness affecting the inner ear,presents as episodes of spontaneous vertigo,fluctuating sensorineural hearing loss,tinnitus,and aural *** hydrops in the cochlear duct and vestibular organs is considered the underlying histopathologic characteristic of *** MD cases are sporadic(sporadic Meniere's disease,SMD),and approximately 4%-20%of patients with MD have a familial history.

关键词： Meniere familial organs

Ductopenia and cirrhosis in a 32-year-old woman with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature

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World Journal of Gastroenterology 2018年第41期24卷 4716-4720页

作者： You-Wen Tan Hai-Lei Ji Zhong-Hua Lu Guo-Hong Ge Li Sun Xin-Bei Zhou Jian-Hui Sheng Yu-Hua Gong Department of Hepatology The Third Hospital of Zhenjiang Affiliated Jiangsu University Department of Liver Disease Wuxi No.5 People’s Hospital Affiliated to Jiangnan University

Progressive familial intrahepatic cholestasis type 3 is caused by a mutation in the ATP-binding cassette, subfamily B, member 4 (ABCB4) gene encoding multidrug resistance protein 3. A 32-year-old woman with a history of acute hepatitis at age 9 years was found to have jaundice during pregnancy in 2008, and was diagnosed as having intrahepatic cholestasis of pregnancy. In 2009, she underwent cholecystectomy for gallstones and chronic cholecystitis. However, itching and jaundice did not resolve postoperatively. She was admitted to our hospital with fatigue, jaundice, and a recently elevated γ-glutamyl transpeptidase level. Liver biopsy led to the diagnosis of biliary cirrhosis with ductopenia. Genetic testing revealed a pathogenic heterozygous mutation, ex13 c.1531G > A (p.A511 T), in the ABCB4 gene. Her father did not carry the mutation, but her mother's brother carried the heterozygous mutation. We made a definitivediagnosis of familial intrahepatic cholestasis type 3. He symptoms and liver function improved after 3 mo o treatment with ursodeoxycholic acid.

关键词： Cirrhosis Progressive familial intrahepatic cholestasis type 3 Case report