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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

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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

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

Importance of genetic evaluation and testing in pediatric cardiomyopathy

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World Journal of Cardiology 2014年第11期6卷 1156-1165页

作者： Muhammad Tariq Stephanie M Ware Department of Pediatrics and Herman B Wells Center for Pediatric Research Indiana University School of Medicine Indianapolis IN 46202 United States

Pediatric cardiomyopathies are clinically heterogeneous heart muscle disorders that are responsible for significant morbidity and mortality. Phenotypes include hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, left ventricular noncompaction and arrhythmogenic right ventricular cardiomyopathy. There is substantial evidence for a genetic contribution to pediatric cardiomyopathy. To date, more than 100 genes have been implicated in cardiomyopathy, but comprehensive genetic diagnosis has been problematic because of the large number of genes, the private nature of mutations, and difficulties in interpreting novel rare variants. This review will focus on current knowledge on the genetic etiologies of pediatric cardiomyopathy and their diagnostic relevance in clinical settings. Recent developments in sequencing technologies are greatly impacting the pace of gene discovery and clinical diagnosis. Understanding the genetic basis for pediatric cardiomyopathy and establishing genotypephenotype correlations may help delineate the molecular and cellular events necessary to identify potential novel therapeutic targets for heart muscle dysfunction in children.

关键词： cardiomyopathy pediatric dilated hypertrophic implicated restrictive sequencing interpreting children familial

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METABLOLISM

China Medical Abstracts(Internal Medicine) 2001年第1期18卷 15-15页

Finding the perfect recipe for success

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Pediatric Investigation 2018年第4期2卷 222-222页

作者： Theodore B.Moore Department of Pediatrics David Geffen School of Medicine at UCLADivision of Pediatric Hematology/OncologyLos AngelesCAUSA

familial hemophagocytic lymphohistiocytosis (FHLH) is a rare genetic disease for which optimal therapy includes consolidation with a hematopoietic stem cell transplant (HSCT). The HLH-1994 study demonstrated a 3-year survival of 62% in patients who received HSCT.1 The conditioning regimen was myeloablative carrying with it significant morbidity and mortality from the resulting organ toxicity. As several studies have shown that 20%–30%donor chimerism is sufficient in most cases to eliminate the clinical manifestations of FHLH, an attempt was made to reduce the toxicity of the conditioning regimen by reducing the myeloablative aspects and replacing them with more immunoablative components. Several single institution reports demonstrated the effectiveness of this approach2,3 achieving overall survival rates of 80%–100%, although this was accompanied by significant issues with mixed chimerism and nonengraftment. In the Bone Marrow Transplant Clinical Trials Network (BMT-CTN) protocol 1204 multi-institutional trial similar results were obtained with only a third of patients achieving sustained donor engraftment with the initial transplant, and the remainder requiring subsequent transplants to achieve this.4 Although the 1-year survival achieved 80%, this dropped to 67% by 18 months. Although significant progress was made in reducing transplant related mortality, clearly additional changes to the conditioning regimen are needed to achieve improved engraftment.

关键词： perfect recipe success familial hemophagocytic lymphohistiocytosis

Heart function and hemodynamics

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China Medical Abstracts(Internal Medicine) 2008年第2期25卷 85-85页

2008271 The Val606Met mutation of human beta myosin heavy chain in a Chinese familial hypertrophic cardiomyopathy *** Jiansong(袁建松),et *** Heat Dis Center,Cardiovasc Instit & Fuwai Hosp,CAMS & PUMC,Beijing *** J Cardiol 2008;36(4):*** To explore the disease-causing gene mutation in Chinese families with hypertrophic cardiomyopathy (HCM)and to analyze the correlation between the genotype and *** Samples of

关键词： hypertrophic cardiomyopathy familial CAMS phenotype myosin genotype mutation 袁建 causing

Laparoscopic total colectomy: Does the indication influence the outcome?

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World Journal of Gastrointestinal Surgery 2011年第11期3卷 177-182页

作者： Eddy Cotte Faheez Mohamed Stéphane Nancey Yves Franois Olivier Glehen Bernard Flourié Jean-Christophe Saurin Gilles Poncet Department of Digestive Surgery Centre Hospitalo-Universitaire Lyon Sud Hospices Civils de Lyon EA 3738 Université Claude Bernard Lyon1 Faculté de Médecine Lyon Sud Colorectal Research Unit Basingstoke and North Hampshire Foundation Trust Department of Gastro-enterology Centre Hospitalo-Universitaire Lyon-Sud Hospices Civils de Lyon Digestive Federation Centre Hospitalo-Universitaire Edouard Herriot Hospices Civils de Lyon

AIM: To assess and compare outcomes of laparoscopic total colectomy performed for a variety of indications. METHODS: Sixty six patients underwent laparoscopic total colectomy for inflammatory bowel disease (IBD) (13) and other diseases (53). Data on demographics, pre and post-operative outcomes were collected ***: Mean operative time was 4.5 h. Conversion rate was 13.6%. Total colectomy performed for IBD was associated with a signifi cantly higher anastomotic leak rate (23.1% vs 1.9%, P < 0.05). On univariate analysis, hand sewn anastomosis and treatment with more than 20 mg of prednisolone for at least 3 mo was associated with a higher anastomotic leak rate (P < 0.05). No signifi cant difference was found in return of gut function and overall morbidity between disease groups. CONCLUSION: Laparoscopic total colectomy is feasible and outcomes are equivalent whatever the indica- tion, except for anastomotic leak rate which is higher for patients with IBD.

关键词： Colectomy Inflammatory bowel disease Laparoscopy familial adenomatous polyposis Constipation Colonic neoplasms Hereditary nonpolyposis Diverticulosis Treatment outcomes

Extensive HLA class Ⅱ studies in Chinese narcoleptic patients.

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China Medical Abstracts(Internal Medicine) 2000年第1期17卷 64-64页

Objective: Narcolepsy is a debilitating, lifelong sleep disorder. Its familial occurrence suggests that genetic factors may be of importance in the etiology. Narcolepsy is a very rare disease among Chinese, thus it wa... 详细信息

关键词： familial etiology genotype typing susceptibility DNA