检索结果-南通市图书馆

异常C-端MECP2移码删除相关的巨头形智力发育迟缓

在线全文

同方期刊数据库

学校读者我要写书评

暂无评论

世界核心医学期刊文摘（儿科学分册） 2005年第9期1卷 37-38页

作者： Oexle k. Thamm-Mück. B. Mayer T. Tinschert S. 高蕊 Institut für k.inische Genetik Med. Fakultt Carl Gustav Carus Technische Universitt Dresden Fetscherstrasse 74 01307DresdenGermany

We report a novel C-terminal MECP2 frameshift deletion (1135 1142delCCCGTG CC) in a 19-year-old woman with mental retardation and epilepsy. Preservation of language capabilities, purposeful hand use and sufficient locomotion implied an atypical variant of Rett syndrome (OMIM 312750). Occipito-frontal head circumference was large at birth (36 cm; SDS 1.7) and increased until adulthood (58.5 cm; SDS 2.3). Conclusion: Our observation indicates that head size and head growth are of limited reliability in the diagnosis of MECP2-associated phenotypes.

关键词：智力发育迟缓 MECP2 移码非典型病例观察表语言能力意向性手部动作生时

血液系统恶性疾病患儿的阑尾炎:分析及与盲肠炎患者的对比

在线全文

学校读者我要写书评

暂无评论

世界核心医学期刊文摘（儿科学分册） 2005年第6期1卷 55-56页

作者： Hobson M. J. Carney D. E. Molik.k. A. 高蕊 Section of Pediatric Surgery Department of Surgery Indiana Univ. Sch. Med. J. W. R. Indianapolis IN United States

Recognition of appendicitis in the child with hematologic malignancymay be difficult particularly in the setting of neutropenia and multiple medications causing an altered inflammatory response. Typhilitis may produce a similar constellation of clinical findings causing further diagnostic confusion. This review compares the relative frequency of these two conditions in children with hematologic malignancy with a focus on the clinical presentation, distinguishing features, surgical management, and outcome for patients with appendicitis. This institutional review board-approved retrospective study evaluated 464 pediatric patients treated for hematologic malignancy at our institution from 1997 to 2003. From this cohort, we identified all children with a diagnosis of appendicitis or typhilitis. Data include demographics, clinical presentation, laboratory studies, and computed tomography (CT) scan findings. Groups were compared using the Fisher exact test. Significance was defined as P yphilitis and 7 (1.5%) with appendicitis. There were no demographic differences between patients with appendicitis and typhilitis. Distinguishing clinical features in children with typhilitis included presence of fever and diarrhea. Clinical presentation in children with appendicitis was atypical in 5 of 7 cases yielding an incorrect preoperative diagnosis in all 5. Radiographic evaluation by CT scan accurately defined typhilitis, but not appendicitis. An operation was performed on all 7 children with appendicitis with no operative morbidity or mortality. Appendicitis and typhilitis occur with similar frequency in children with leuk.mia and lymphoma. Typhilitis is accurately diagnosed with clinical findings of fever, diarrhea, abdominal pain, and typical CT scan findings. Appendicitis tends to present with atypical findings, but can be successfully managed with standard surgical care.

关键词：中性粒细胞缺乏鉴别诊断外科处理药物治疗统计学结果淋巴瘤预后良好炎症反应术后并发症有显著性差异

对瑞典双胞胎的研究:无证据表明帕金森病具有遗传性

在线全文

学校读者我要写书评

暂无评论

世界核心医学期刊文摘（神经病学分册） 2005年第1期1卷 37-38页

作者： Wirdefeldt k. Gatz M. SchallingM. Pedersen N.L. 赵正卿 Dept. of med. Epidemiol./Biostatist. Karolinska Institutet Box 281 SE 171 77 Stockholm Sweden Dr.

Back.round: Although several genes are implicated in Park.nson disease (PD), they explain only a small fraction of cases. The etiology of most cases is yet unk.own. Objective: To evaluate heritability of PD in same sexed and opposite sexed twin pairs in the Swedish Twin Registry (STR). Methods: All twins in the STR born in 1950 or earlier and alive in 1998 (n = 50,150) were included. The authors screened 33,780 twins in 14,082 pairs for PD by telephone interviews and link.d the STR to the Swedish Inpatient Discharge Register. Two hundred forty seven twins with self reported PD or a PD diagnosis in the Inpatient Discharge Register (called “ possible PD") and 517 twins who reported park.nsonian symptoms or use of antipark.nsonian medication (“ suspected park.nsonism or movement disorder") were identified. Results: For possible PD, there were only two concordant pairs, both female dizygotic. Similarly, concordances were low in all zygosity groups when the definition of affected was expanded to include twins with suspected park.nsonism or movement disorder in addition to possible PD. Sex differences in the relative importance of genetic and environmental effects were indicated with a marginally larger familial component in women. The best fitting structural equation model included only environmental components of variance. Conclusions: These results suggest that environmental factors are most important in the etiology of PD. Compared with other complex diseases, the importance of genetic effects in PD is notably low. The preponderance of discordant twin pairs provides an ideal material for studying environmental risk.factors and potential genotype by environment interaction.

关键词：帕金森病抗帕金森药物帕金森患者环境危险帕金森症状双卵双生电话访问运动失调女性患病率遗传率

在线全文

学校读者我要写书评

暂无评论

人类之DDT中毒

中华医学杂志 1947年第3期33卷 82-82页

作者： I. M. Mack.rras & R. F. k. West (1946) med. J. Australia, :400

Hepatocellular carcinoma in the elderly:Meta-analysis and systematic literature review

在线全文

同方期刊数据库

学校读者我要写书评

暂无评论

World Journal of Gastroenterology 2015年第42期21卷 12197-12210页

作者： Annie k.Hung Jennifer Guy Department of Internal medicine California Pacific Medical CenterSan Francisco Department of Transplantation Division of Hepatology California Pacific Medical Center San Francisco

AIM: To conduct a meta-analysis to investigate theclinical outcomes of surgical resection and locoregional treatments for hepatocellular carcinoma(HCC) in elderly patients defined as aged 70 years or more. METHODS: Literature documenting a comparison of clinical outcomes for elderly and non elderly patients with hepatocellular carcinoma was identified by searching Pub med, Ovid, Cochrane Library, and Web of Science databases, for those from inception to March 2015 with no limits. Dichotomous outcomes and standard meta-analysis techniques were used. Heterogeneity was tested by the Cochrane Q statistic. Pooled estimates were measured using the fixed or random effect ***: Twenty three studies were included with a total of 12482 patients. Of these patients, 6341 were treated with surgical resection, 3138 were treated with radiofrequency ablation(RFA), and 3003 were treated with transarterial chemoembolization(TACE). Of the patients who underwent surgical resection, the elderly had significantly more respiratory co-morbidities than the younger group, with both groups having a similar proportion of cardiovascular co-morbidities and diabetes. After 1 year, the elderly group had significantly increased survival rates after surgical resection compared to the younger group(OR = 0.762, 95%CI: 0.583-0.994, P = 0.045). However, the 3-year and 5-year survival outcomes with surgical resection between the two groups were similar(OR = 0.947, 95%CI: 0.777-1.154, P = 0.67 for the third year; and OR = 1.131, 95%CI: 0.895-1.430, P = 0.304 for the fifth year). Postoperative treatment complications were similar between the elderly and younger group. The elderly group and younger group had similar survival outcomes for the first and third year after RFA(OR = 1.5, 95%CI: 0.788-2.885, P = 0.217 and OR = 1.352, 95%CI: 0.940-1.944, P = 0.104). For the fifth year, the elderly group had significantly worse survival rates compared to the younger group after RFA(OR = 1.379, 95%CI: 1.079-

关键词： Liver neoplasms Hepatocellular carcinoma Elderly p

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

诊断肠原虫的一种快速而永久的装封染色方法

中华预防医学杂志 1956年第1期04卷 51-51页

作者： Deaner.k.Lawless Am.J.Trop.med&Hyg

著者描述了一种诊断肠原虫用的永久染色方法。染色时间只需2(1/2)分钟,但可取得像铁苏木素染色标本同样的结果。染色液的配制很简单,仅需少数原料,亦不需精巧熟练的技术,并且减省了等待染液成熟的手绩。所用的保存剂和固定剂混合配制在...

著者描述了一种诊断肠原虫用的永久染色方法。染色时间只需2(1/2)分钟,但可取得像铁苏木素染色标本同样的结果。染色液的配制很简单,仅需少数原料,亦不需精巧熟练的技术,并且减省了等待染液成熟的手绩。所用的保存剂和固定剂混合配制在一起,染色液染料的选择能使大便产生紫蓝色背景而原虫染色后易

关键词：

Selective block.de of NF-k.ppa B by novel mutated I k.ppa B alpha suppresses CD3/CD28-induced activation of memory CD4(+) T cells in asthma

在线全文

同方期刊数据库

学校读者我要写书评

暂无评论

南京医科大学学报（自然科学版） 2008年第6期28卷 826-826页

作者： Zhou,L. F. Zhang,M. S. Hu,A. H. Zhu Z. yin,k. S. Nanjing med Univ Affiliated Hosp 1Dept Resp MedNanjing 210029Peoples R China. Johns Hopkins UnivSch MedJohns Hopkins Asthma ＆ Allergy CtrDiv Clin Immunol ＆ AllergyBaltimoreMD USA. Nanjing med Univ Dept Microbiol ＆ ImmunolNanjingPeoples R China. Univ Penn Childrens Hosp PhiladelphiaSch MedJoseph Stokes Jr Res InstPhiladelphiaPA 19104 USA Oregon Hlth ＆ Sci Univ Dept Biochem ＆ Mol BiolPortlandOR 97201 USA

Back.round:Nuclear factor k.ppa B(NF-k.ppa B) overactivation plays a crucial role in T-helper 2 (Th2)-biased allergic airway inflammation by increased activation and decreased apoptosis of CD4(+) T cells. We have shown that targeted NF-k.ppa B suppression in dendritic cells by adenoviral gene transfer of a novel mutated inhibitor of NF-k.ppa B(I k.ppa B alpha) (AdI k.ppa B alpha M) contributes to T-cell tolerance, but the immunosuppressive action of AdI k.ppa B alpha M on memory(CD45RO(+)) CD4(+) T cells remains enigmatic. Methods:CD45RO(+) T cells from Dermatophagoides farinaei-sensitized asthmatic patients, untransfected or transfected with AdI k.ppa B alpha M or AdLacZ(beta-galactosidase) for 24 h, were stimulated with anti-CD3(1.0 mu g/ml) plus anti-CD28(0.5 mu g/ml) monoclonal antibody for an additional 24 h. I k.ppa B alpha M transgene expression and NF-k.ppa B activation were detected by polymerase chain reaction(PCR), reverse transcription-PCR(RT-PCR), Western blot analysis, and electrophoretic mobility shift assay. Phenotype and apoptosis were measured by flow cytometry, annexin V binding, and terminal deoxyribonucleotidyl transferase-mediated dUTP nick.end labeling analyses. Cytok.ne production and cell proliferation were determined using enzyme-link.d immunosorbent assay andH-3 thymidine incorporation. Results:A unique 801-bp I k.ppa B alpha M cDNA and a dose-dependent increase in I k.ppa B alpha M transgene expression were observed in AdI k.ppa B alpha M-transfected CD45RO(+) T cells. Significantly, AdI k.ppa B alpha M inhibited CD3/CD28-mediated NF-k.ppa B activation in CD45RO(+) T cells, leading to evident apoptosis, reduction of eotaxin, RANTES, Th1 interferon (IFN)-gamma and interleuk.n (IL)-2, and Th2 (IL-4, IL-5, and IL-13 despite a slight decrease in IL-10) cytok.nes and secondary proliferative response. AdI k.ppa B alpha M also upregulated cytotoxic T lymphocyte-associated antigen 4(CTLA-4) and downregulated CD69 besides no change in CD28. Conclu

关键词：哮喘治疗方法临床分析 T细胞

PNPLA3 polymorphism increases risk.for and severity of chronic hepatitis C liver disease

在线全文

学校读者我要写书评

暂无评论

World Journal of Hepatology 2016年第35期8卷 1584-1592页

作者： Habeeb Salameh Maen Masadeh Muhannad Al Hanayneh Vincent Petros Matthew Maslonk. Arjun Nanda Ashwani k.Singal Department of Internal medicine Division of Gastroenterology and Hepatology University of Texas Medical Branch Department of Internal medicine Division of Gastroenterology and Hepatology University of Iowa Department of Internal medicine University of Texas Medical Branch Division of Gastroenterology and Hepatology University of Alabama

AIM To examine the association of PNPLA3 polymorphisms in chronic hepatitis C patients and development of liver disease spectrum. METHODS Literature was searched systematically from Pub med/medLINE, EMBASE, and Cochrane search engines for full-length articles written in English that examined PNPLA3 polymorphism in chronic hepatitis C(CHC) patients. Studies evaluating the association of PNPLA3 polymorphism spectrum(fatty liver, steatohepatitis, cirrhosis, and hepatocellular carcinoma) of CHC were included. Pooled data are reported as OR with 95%CI. Our study endpoint was the risk.of the entire liver disease spectrum including: Steatosis/fatty liver, cirrhosis, and hepatocellular carcinoma in CHC patients with PNPLA3 *** Of 380 studies identified, a total of 53 studies were included for full-text review. Nineteen on chronic he-patitis C were eligible for analysis. Pooled ORs for rs738409 GG compared to CC and CG among patients with fatty liver was 2.214(95%CI: 1.719-2.853). ORs among advanced fibrosis/cirrhosis were 1.762(95%CI: 1.258-2.468). Similar odds ratios among hepatocellular carcinoma patients were 2.002(95%CI: 1.519-2.639). Pooled ORs for rs738409 GG and CG compared to CC among patients with fatty liver were 1.750(95%CI: 1.542-1.986). Pooled ORs for advanced fibrosis/cirrhosis patients were 1.613(95%CI: 1.211-2.147). All analyses were homogenous and without publication bias except one. The associations were maintained after adjusting for publication bias and heterogeneity. CONCLUSION PNPLA3 polymorphisms have strong association with increased risk.and severity of the liver disease spectrum in CHC patients.

关键词： PNPLA3 polymorphism Cirrhosis rs738409 Hepatitis C virus Hepatocellular carcinoma

Childhood Nutrition and the Development of Cardiometabolic risk.Factors

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

Childhood Nutrition and the Development of Cardiometabolic r...