检索结果-南通市图书馆

China Medical Abstracts(Internal Medicine) 1997年第1期14卷 53-57页

Analysis on the Emotions in Australia

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海外英语 2015年第2期 185-186页

作者：王成珍西华大学外国语学院

Analyzing familial affection between Sarah and Nullah across race, love between Sarah and Drover across caste, friendship between Sarah and King George across caste and race, this paper attempts to help audience compr... 详细信息

关键词： Australia familial affection love friendship theme of Australia

Running in the family:MALT lymphoma and autoimmune disease in mother and daughter

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World Journal of Gastrointestinal Oncology 2012年第2期4卷 26-29页

作者： Barbara Kiesewetter Marlene Troch Leonhard Müllauer Markus Raderer De-partments of Internal Medicine I Division of Oncologyand the Comprehensive Cancer Center of the Medical University ViennaA-1090 ViennaAustria Departments of Internal Medicine I Divi-sion of Pathologyand the Comprehensive Cancer Center of the Medical University ViennaA-1090 ViennaAustria

Gastric B-cell lymphoma of the mucosa associated lym-phoid tissue(MALT) lymphoma is one of the most com-mon forms of extranodal *** addition to in-fection with Helicobacter pylori(***),the presence of an underlying autoimmune disease has also been associated with MALT lymphoma *** date,no familial predisposition for MALT lymphomas has been reported as opposed to other types of lymphoma.A 65-year-old woman was admitted at our institution in 1998 with a diagnosis of *** positive gastric MALT lymphoma and the presence of chronic autoim-mune thyroiditis was established on further *** eradication did not result in regression of the lymphoma and RT-PCR showed the presence of the t(11;18)(q21;q21) *** 1.5 years after *** eradication,chemotherapy with cladribine resulted in complete *** to lymphoma re-currence 13 mo later,radiotherapy to the stomach(46 Gy) resulted in minimal residual disease without further *** patient developed a second malig-nancy(Epstein-Bar virus-associated anaplastic large cell lymphoma in the mediastinum) in 2004 which initially responded to two courses of chemotherapy,but she re-fused further therapy and died of progressive lympho-ma in *** 2008,her 55 years old daughter with a long standing Sj gren's syndrome was diagnosed with MALT lymphoma of the right parotid,but no evidence of gastric involvement or *** infection was ***,she is alive without therapy and undergoing regular *** our knowledge,this is the first report of MALT lymphoma in a f irst-degree relative of a patient with gastric MALT lymphoma in the context of two autoimmune diseases without a clearly established familial background.

关键词： Mucosa associated lymphoid tissue lym-phoma Helicobacter pylori Autoimmunity familial lym-phoma

From variome to phenome:Pathogenesis,diagnosis and management of ectopic mineralization disorders

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World Journal of Clinical Cases 2015年第7期3卷 556-574页

作者： Eva YG De Vilder Olivier M Vanakker Center for Medical Genetics Ghent University Hospital Department of Ophthalmology Ghent University Hospital

Ectopic mineralization- inappropriate biomineralization in soft tissues- is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mortality. Further, pathologic mineralization is seen in several rare genetic disorders, which often present life-threatening phenotypes. These disorders are classified based on the mechanisms through which the mineralization occurs: metastatic or dystrophic calcification or ectopic ossification. Underlying mechanisms have been extensively studied, which resulted in several hypotheses regarding the etiology of mineralization in the extracellular matrix of soft tissue. These hypotheses include intracellular and extracellular mechanisms, such as the formation of matrix vesicles, aberrant osteogenic and chondrogenic signaling, apoptosis and oxidative stress. Though coherence between the different findings is not always clear, current insights have led to improvement of the diagnosis and management of ectopic mineralization patients, thus translating pathogenetic knowledge(variome) to the phenotype(phenome). In this review, we will focus on the clinical presentation, pathogenesis and management of primary genetic soft tissue mineralization disorders. As examples of dystrophic calcification disorders Pseudoxanthoma elasticum, Generalized arterial calcification of infancy, Keutel syndrome, Idiopathic basal ganglia calcification and Arterial calcification due to CD73(NT5E) deficiency will be discussed. Hyperphosphatemic familial tumoral calcinosis will be reviewed as an example of mineralization disorders caused by metastatic calcification.

关键词： Ectopic mineralization Pseudoxanthoma elasticum Pseudoxanthoma elasticum-like syndrome Generalized arterial calcification of infancy Keutel syndrome Idiopathic basal ganglia calcification Arterial calcification due to CD73 deficiency Hyperphosphatemic familial tumoral calcinosis Etiology Phenotype

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偏瘫型偏头痛的研究进展

中风与神经疾病杂志 2016年第3期33卷 286-288页

作者：张亚倩黄朔董铭冯加纯吉林大学第一医院神经内科和神经科学中心吉林长春130021

偏瘫型偏头痛的特点是在先兆发生的同时或先兆发生60 min内出现符合偏头痛特征的头痛。先兆除必须有肢体无力特征外,还应包括视觉、言语、感觉三种先兆之一,先兆持续5 min～24 h,先兆于发作后完全消失。本文将对偏瘫型偏头痛的研究进展... 详细信息

偏瘫型偏头痛的特点是在先兆发生的同时或先兆发生60 min内出现符合偏头痛特征的头痛。先兆除必须有肢体无力特征外,还应包括视觉、言语、感觉三种先兆之一,先兆持续5 min～24 h,先兆于发作后完全消失。本文将对偏瘫型偏头痛的研究进展做系统回顾。1分类在偏瘫型偏头痛患者的一级或二级亲属中,至少有一人具有肢体无力的偏头痛先兆,则称为家族性偏瘫型偏头痛（familial hemiplegic migraine,FHM）。

关键词： migraine 二级亲属 familial 先兆症状氟桂利嗪神经功能缺损皮质扩散性抑制基因突变拉莫三嗪缺血性卒中

Genomic era diagnosis and management of hereditary and sporadic colon cancer

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World Journal of Clinical Oncology 2014年第5期5卷 1036-1047页

作者： Edward David Esplin Michael Paul Snyder Department of Genetics Stanford University School of Medicine Stanford CA 94305 United States

The morbidity and mortality attributable to heritable and sporadic carcinomas of the colon are substantial and affect children and adults alike. Despite current colonoscopy screening recommendations colorectal adenocarcinoma(CRC) still accounts for almost 140000 cancer cases yearly. familial adenomatous polyposis(FAP) is a colon cancer predisposition due to alterations in the adenomatous polyposis coli gene, which is mutated in most CRC. Since the beginning of the genomic era next-generation sequencing analyses of CRC continue to improve our understanding of the genetics of tumorigenesis and promise to expand our ability to identify and treat this disease. Advances in genome sequence analysis have facilitated the molecular diagnosis of individuals with FAP, which enables initiation of appropriate monitoring and timely intervention. Genome sequencing also has potential clinical impact for individuals with sporadic forms of CRC, providing means for molecular diagnosis of CRC tumor type, data guiding selection of tumor targeted therapies, and pharmacogenomic profiles specifying patient specific drug tolerances. There is even a potential role for genomic sequencing in surveillance for recurrence, and early de-tection, of CRC. We review strategies for diagnostic assessment and management of FAP and sporadic CRC in the current genomic era, with emphasis on the current, and potential for future, impact of genome sequencing on the clinical care of these conditions.

关键词： Colorectal adenocarcinoma familial adenomatous polyposis Genome sequencing Personalized medicine Cancer genomics Pharmacogenomics Genomic medicine

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1989年新增加和改变的副主题词

医学信息学杂志 1990年第3期17卷 72-73页

作者：李丹亚中国医学医学院医学情报研究所

1989年美国国立医学图书馆取消了副主题词/家族和遗传(familial & genitics),改用/遗传学(genetics,GE)替代。副主题词/发生(occurrence,OC)也被取消,用/流行病学(epidemiology,EP)、/统计学和数值数据(statistics & numerical data,SN... 详细信息

关键词：副主题词国立医学图书馆数值数据 familial genetics 扩展检索 epidemiology 检索范围疾病暴发 Bulletin

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腹膜后侵袭性纤维瘤病包绕下腔静脉一例

中华普通外科学文献（电子版） 2016年第1期10卷 74-76页

作者：张朝晖赖佳明梁力建毛帅中山大学附属第一医院胆胰外科广州510080

患者女,17岁,因'体检发现腹部巨大肿物半月余'入院。患者无自觉腹胀腹痛、恶心呕吐、便秘等症状,否认外伤、手术史,否认长期服用雌激素,无家族性腺瘤性息肉病(familial adenomatous polyposis,FAP)等病史;全腹部CT平扫+增强+三维重建:... 详细信息

患者女,17岁,因'体检发现腹部巨大肿物半月余'入院。患者无自觉腹胀腹痛、恶心呕吐、便秘等症状,否认外伤、手术史,否认长期服用雌激素,无家族性腺瘤性息肉病(familial adenomatous polyposis,FAP)等病史;全腹部CT平扫+增强+三维重建:腹膜后相当腰1-骶1水平脊柱前方及右侧见一巨大混杂密度肿块影,大小约22 cm×19 cm,边界清楚。增强扫描动脉期肿块轻度不均匀强化,

关键词：侵袭性纤维瘤病下腔静脉门脉期 adenomatous 混杂密度 polyposis familial 肿块影增强扫描动脉期三维重建

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家族性腺瘤性息肉病的预防性外科治疗

中华结直肠疾病电子杂志 2015年第3期4卷 311-313页

作者：张秋雷江从庆钱群武汉大学中南医院结直肠肛门外科湖北省肠病医学临床研究中心肠病湖北省重点实验室 430071

家族性腺瘤性息肉病(familial adenomatous polyposis,FAP)是一种常染色体显性遗传病。男女发病机会相等。其典型的临床表现为大肠息肉多发,结直肠黏膜出现100颗以上,甚至成百上千的腺瘤性息肉,并具有高度恶性倾向。如不及时治疗,30~40... 详细信息

家族性腺瘤性息肉病(familial adenomatous polyposis,FAP)是一种常染色体显性遗传病。男女发病机会相等。其典型的临床表现为大肠息肉多发,结直肠黏膜出现100颗以上,甚至成百上千的腺瘤性息肉,并具有高度恶性倾向。如不及时治疗,30~40岁时其癌变的概率几乎为100%[1-2]。对于FAP患者而言,应在息肉癌变之前行预防性手术治疗。国外统计资料显示。

关键词：结直肠黏膜息肉癌变大肠息肉结直肠癌 adenomatous 腺瘤性息肉 polyposis familial 吻合口漏双吻合器技术

阻断PD-1免疫检测点减轻阿尔茨海默病小鼠的病变并提高其认知能力

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中国病理生理杂志 2016年第6期32卷 1076-1076页

作者：范冲竹

全身性免疫抑制会减弱机体的防护功能,而神经系统的修复需要细胞介导的免疫应答参与。Baruch等使用阿尔茨海默病（Alzheimer disease,AD）5个家族性基因突变（five familial AD mutations,5XFAD）的小鼠模型进行研究,

关键词：阿尔茨海默病 PD-1 免疫检测 familial 全身性免疫免疫应答细胞介导巨噬细胞程序性死亡 programmed