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ROR2 gene is associated with risk of non-syndromic cleft palate in an Asian population

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Chinese Medical Journal 2012年第3期125卷 476-480页

作者： Wang Hong Hetmanski, Jacqueline B. Ruczinski, Ingo Liang, Kung Yee Fallin, M. Daniele Redett, Richard J. Raymond, Gerald V. Chou, Yah-Huei Wu Chen, Philip Kuo-Ting Yeow, Vincent Chong, Samuel S. Cheah, Felicia S. H. Jabs, Ethylin Wang Scott, Alan F. Beaty, Terri H. Peking univ Dept Epidemiol & Biostat Sch Publ Hlth Beijing 100191 Peoples R China johns hopkins Bloomberg sch.Publ Hlth Dept Epidemiol Baltimore MD USA johns hopkins Bloomberg sch.Publ Hlth Dept Biostat Baltimore MD USA Natl Yang Ming univ Dept Life Sci Taipei 112 Taiwan Natl Yang Ming univ Inst Genome Sci Taipei 112 Taiwan johns hopkins univ Sch Med Dept Surg Baltimore MD 21205 USA johns hopkins univ Sch Med Kennedy Krieger Inst Baltimore MD USA johns hopkins univ Sch Med Dept Pediat Baltimore MD 21205 USA johns hopkins univ Sch Med Dept Med Baltimore MD 21205 USA Chang Gung Mem Hosp Dept Med Res Tao Yuan Taiwan Chang Gung Mem Hosp Craniofacial Ctr Tao Yuan Taiwan KK Womens & Childrens Hosp Dept Plast Reconstruct & Aesthet Surg Singapore Singapore Natl univ.Singapore Dept Pediat Singapore 117548 Singapore Mt Sinai sch.Med New York NY USA

Background The receptor tyrosine kinase-like orphan receptor 2 （ROR2） gene has been recently shown to play important roles in palatal development in animal models and resides in the chromosomal region linked to non syndromic cleft lip with or without cleft palate in *** aim of this study was to investigate the possible association between ROR2 gene and non-syndromic oral *** Here we tested 38 eligible single-nucleotide polymorphisms （SNPs） in ROR2 gene in 297 non-syndromic cleft lip with or without cleft palate and in 82 non-syndromic cleft palate case parent trios recruited from Asia and *** Based Association Test was used to test for deviation from Mendelian *** software was used to test potential parent of origin *** maternally mediated in utero effects were assessed using the TRlad Multi-Marker approach under an assumption of mating symmetry in the *** Significant evidence of linkage and association was shown for 3 SNPs （rs7858435,rs10820914 and rs3905385） among 57 Asian non-syndromic cleft palate trios in Family Based Association Tests.P values for these 3 SNPs equaled to 0.000068,0.000115 and 0.000464 respectively which were all less than the significance level （0.05/38=0.0013） adjusted by strict Bonferroni *** odds ratios for the risk allele were 3.42 （1.80-6.50）,3.45 （1.75-6.67） and 2.94 （1.56-5.56）,*** evidence of linkage and association was not shown for study groups other than non-syndromic cleft *** evidence for parent-of-origin nor maternal genotypic effect was shown for any of the ROR2 markers in our analysis for all study *** Our results provided evidence of linkage and association between the ROR2 gene and a gene controlling risk to non-syndromic cleft palate.

关键词： receptor tyrosine kinase-like orphan receptor 2 cleft lip cleft palate association transmission disequilibrium test

联合性抗逆转录病毒治疗可减轻HIV/AIDS晚期患者中枢神经系统感染

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世界核心医学期刊文摘（神经病学分册） 2005年第3期1卷 20-21页

作者： McArthur J.C. McDermott M.P. McClernon D. 王英鹏 Department of Neurology Johns Hopkins Univ. Sch. of Medici ne 600 N Wolfe St Baltimore MD 21287-7609 United States Dr.

Background: Before the introduction of combination antiretroviral therapy (CAR T), neurological disease correlated with cerebrospinal fluid (CSF) levels of hum an immunodeficiency virus (HIV) RNA. Objective: To investigate the relationships among HIV RNA levels, immune activation markers, and neurological status in pat ients receiving CART. Design: Multicenter cohort study. Setting: Academic neurol ogy departments. Patients: A total of 371 patients unselected for neurological c omplaints and with CD4 cell counts less than 200/μL or with cognitive symptoms and CD4 cell counts less than 300/μL were enrolled into the Northeastern AIDS D ementia cohort in 1998-2002. Diagnoses of HIV associated dementia (HIV D) and minor cognitive motor disorder (MCMD) were obtained with a computerized algori thm. Plasma and CSF levels of HIV RNA, monocyte chemotactic protein 1, macrophag e colony stimulat ing factor, and tumor necrosis factor αwere quantified. Res ults: The mean±SD age was 41.5±7.2 years, and the mean±SD educational level w as 12.3±2.2 years. Seventy percent of the cohort was black, and 30%were women. The mean±SD CD4 cell count was 136.8±87.9/μL, and CART was used in 71%. Twe nty nine percent of the patients were unimpaired (n=106) , 36%had MCMD (n= 13 3), and 35%had HIV D (n=128). Mean log10 CSF HIV RNA copies per milliliter was 2.6±0.8, with no differences among the neurological groups, even after adjustm ents for baseline CD4 cell counts and antiretroviral therapy. Cerebrospinal flui d HIV RNA was undetectable in 47%of unimpaired, 46%of MCMD, and 43%of HIV D patients (P=.91). Plasma levels of monocyte chemotactic protein type 1 and tumor necrosis factor αcorrelated weakly with HIV RNA levels but did not distinguish those with neurological deficits. Conclusions: In contrast to observations in i ndividuals not treated with CART, we found no relationship between CSF markers a nd neurological status in this CART using cohort with advanced HIV/AIDS. This w as not explicab

关键词： HIV/AIDS 细胞计数联合性神经病学队列研究基线水平轻度认知障碍免疫激活肿瘤坏死因子α 神经功能状态

Identification of critical base pairs required for CTCF binding in motif M1 and M2

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Protein & Cell 2017年第7期8卷 544-549页

作者： Li, Wufeng Shang, Liping Huang, Kaimeng Li, Jiao Wang, Zhibin Yao, Hongjie Guangzhou Med univ Joint Sch Life Sci CAS Key Lab Regenerat Biol Guangzhou 510530 Guangdong Peoples R China Chinese Acad Sci Guangzhou Inst Biomed & Hlth Guangzhou 510530 Guangdong Peoples R China Shanxi Agr univ Coll Life Sci Taigu 030801 Peoples R China Chinese Acad Sci CAS Ctr Excellence Mol Cell Sci Guangzhou Inst Biomed & Hlth Guangzhou 510530 Guangdong Peoples R China johns hopkins univ Bloomberg Sch Publ Hlth Dept Environm Hlth & Engn Lab Human Environm Epigenome Baltimore MD 21205 USA

Dear Editor,The ubiquitously expressed CCCTC-binding factor （CTCF）, is highly conserved from Drosophila to mammals and plays multiple functions in the genome （Ohlsson et al., 2001）. CTCF has been shown to establis...

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使用磁共振功能成像判定萎缩性黄斑变性患者中心性暗点的视皮质视网膜图中的定位

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世界核心医学期刊文摘（眼科学分册） 2005年第1期1卷 60-61页

作者：陈立军 Sunness J.S Liu T Yantis S Lions Vis.Ctr.Wilmer O. Johns Hopkins Univ.Sch.of MedicineBaltimoreMDUni ted States.Dr.

Purpose To describe retinotopic map ping of the visual cortex when a central scotoma is *** Single observational case *** Scanning laser oph-thalmoscope perimetry was used to define the site and stability of fixation and the area of dense *** magnetic resonance imag ing of the visual cor-tex was performed while the patient v iewed an expanding annular *** Retinoto pic mapping of the visual cortex for a patient with a horseshoe scotoma from geographic atrophy involving the ma cular region showed a loss of stimulation to the cortical a reas representing the site of the atrophic *** Cortical retino-topic mapping can be performed successfully in patients with central scotomas from macular d *** study can serve as a basis for the future investigation of cortical plasticity in visual cortex.

关键词：磁共振功能成像黄斑变性中心性扫描激光检眼镜黄斑区病变固视点萎缩性病变视野检查视标

Selective blockade of NF-kappa B by novel mutated I kappa B alpha suppresses CD3/CD28-induced activation of memory CD4(+) T cells in asthma

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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

Background:Nuclear factor kappa B(NF-kappa 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-kappa B suppression in dendritic cells by adenoviral gene transfer of a novel mutated inhibitor of NF-kappa B(I kappa B alpha) (AdI kappa B alpha M) contributes to T-cell tolerance, but the immunosuppressive action of AdI kappa 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 kappa 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 kappa B alpha M transgene expression and NF-kappa 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. Cytokine production and cell proliferation were determined using enzyme-linked immunosorbent assay andH-3 thymidine incorporation. Results:A unique 801-bp I kappa B alpha M cDNA and a dose-dependent increase in I kappa B alpha M transgene expression were observed in AdI kappa B alpha M-transfected CD45RO(+) T cells. Significantly, AdI kappa B alpha M inhibited CD3/CD28-mediated NF-kappa B activation in CD45RO(+) T cells, leading to evident apoptosis, reduction of eotaxin, RANTES, Th1 interferon (IFN)-gamma and interleukin (IL)-2, and Th2 (IL-4, IL-5, and IL-13 despite a slight decrease in IL-10) cytokines and secondary proliferative response. AdI kappa 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

越南和坦桑尼亚国家沙眼控制计划中的性别均衡度和倒睫治疗手术

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世界核心医学期刊文摘（眼科学分册） 2005年第3期1卷 42-42页

作者： West S. Nguyen M.P. MkochaH. 肖颖 Wilmer Eye Institute Johns Hopkins Univ. Sch. of Medicine 600 N orth Wolfe Street Baltimore MD 21287 United States Dr

Aims: To calculate the gender distribution of trichiasis cases in trachoma com munities in Vietnam and Tanzania, and the gender distribution of surgical cases, to determine if women are using surgical services proportional to their needs. Methods: Population based data from surveys done in Tanzania and Vietnam as part of the national trachoma control programmes were used to determine the rate of trichiasis by gender in the population. Surgical records provided data on the ge nder ratio of surgical cases. Results: The rates of trichiasis in both countries are from 1.4 fold to sixfold higher in females compared to males. In both coun tries, the female to male rate of surgery was the same or even higher than the f emale to male rate of trichiasis in the population. Conclusions: These data prov ide assurance of gender equity in the provision and use of trichiasis surgery se rvices in the national programmes of these two countries. Such simple analyses s hould be used by other programmes to assure gender equity in provision and use o f trichiasis surgery services.

关键词：控制计划均衡度部分调查

父母拒绝学龄期儿童接种疫苗相关因素的病例对照研究

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世界核心医学期刊文摘（儿科学分册） 2005年第10期1卷 43-44页

作者： Salmon D.A. Moulton L.H. Omer S.B. 平智广 Institute for Vacc ine Safety J. Hopkins Bloomberg Sch. Pub. Hlth. 615 N Wolfe St. Baltimore MD 21205 United States Dr.

Background: The rate of nonmedical exemptions to sch.ol immunization requireme nts has been increasing, and children with exemptions have contributed to outbre aks of vaccine-preventable diseases. Objectives: To determine why parents claim nonmedical exemptions and to explore differences in percep- tions of vaccines and vaccine information sources between parents of exempt and fully vaccinated children. Design: Casecontrol study. Setting: Colorado, Massach usetts, Missouri, and Washington. Participants: Surveys were mailed to the paren ts of 815 exempt children (cases) and 1630 fully vaccinated children (controls r andomly selected from the same grade and sch.ol) recruited from 112 private and public elementary sch.ols. Surveys were completed by 2435 parents (56.1%). Main Outcome Measures: Parental reports. Results: Most children (209 [75.5%] of 277 ) with non-medical exemptions received at least some vaccines. The most common vaccine not received was varicella (147 [53.1%] of 277 exempt children). The mo st commo nreason stated for requesting exemptions (190 [69%] of 277) was concer n that the vaccines might cause harm. Parents of exempt children were significan tly more likely than parents of vaccinated children to report low perceived vacc ine safety and efficacy, a low level of trust in the government, and low perceiv ed susceptibility to and severity of vaccine-preventable diseases. Parents of e xempt children were significantly less likely to report confidence in medical, p ublic health, and government sources for vaccine information and were more likel y to report confidence in alternative medicine professionals than parents of vac cinated children. Conclusion: Continued efforts must be made to educate parents about the utility and safety of vaccines, especially parents requesting nonmedic al exemptions to sch.ol immunization requirements.

关键词：学龄期儿童疫苗接种病例对照研究免疫接种马萨诸塞州公立小学科罗拉多州密苏里州信任程度政府资源

孤独症患者脑内神经胶质细胞的激活和神经炎症

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世界核心医学期刊文摘（神经病学分册） 2005年第5期1卷 14-14页

作者： Vargas D.L. Nascimbene C. Krishnan C. C.A. Pardo 郭俊 Department of N eurology Johns Hopkins Univ. Sch. of Medicine Pathology 627 600 North Wolfe S treet Baltimore MD 21287 United States Dr.

Autism is a neurodevelopmental disorder characterized by impaired communicati on and social interaction and may be accompanied by mental retardation and epile psy. Its cause remains unknown, despite evidence that genetic, environmental, an d immunological factors may play a role in its pathogenesis. To investigate whet her immune mediated mechanisms are involved in the pathogenesis of autism, we used immunocytochemistry, cytokine protein arrays, and enzyme linked immunosor bent assays to study brain tissues and cerebrospinal fluid (CSF) from autistic p atients and determined the magnitude of neuroglial and inflammatory reactions an d their cytokine expression profiles. Brain tissues from cerebellum, midfrontal, and cingulate gyrus obtained at autopsy from 11 patients with autism were used for morphological studies. Fresh frozen tissues available from seven patients and CSF from six living autistic patients were used for cytokine protein profili ng. We demonstrate an active neuroinflammatory process in the cerebral cortex, w hite matter, and notably in cerebellum of autistic patients. Immunocytochemical studies showed marked activation of microglia and astroglia, and cytokine profil ing indicated that macrophage chemoattractant protein (MCP) 1 and tumor growth factor β 1, derived from neuroglia, were the most prevalent cytokines in bra in tissues. CSF showed a unique proinflammatory profile of cytokines, including a marked increase in MCP 1. Our findings indicate that innate neuroimmune reac tions play a pathogenic role in an undefined proportion of autistic patients, su ggesting that future therapies might involve modifying neuroglial responses in t he brain.

关键词：孤独症神经胶质细胞发育障碍性疾病社会交往障碍智力低下细胞因子免疫细胞化学免疫介导巨噬细胞扣带回

糖尿病患者糖化血红蛋白和心血管疾病的荟萃分析

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世界核心医学期刊文摘（心脏病学分册） 2005年第2期1卷 2-2页

作者： Selvin E. Marinopoulos S. Berkenblit G. S.H. Golden 任付先 Div. of Endocrinology and Metabolism Johns Hopkins Univ. Sch . of Medicine 2024 East Monument Street Baltimore MD 21205 UnitedStates Dr.

Background: In persons with diabetes, chronic hyperglycemia (assessed by glyco sylated hemoglobin level) is related to the development of microvascular disease ; however, the relation of glycosylated hemoglobin to macrovascular disease is l ess clear. Purpose: To conduct a meta analysis of observational studies of the association between glycosylated hemoglobin and cardiovascular disease in diabet ic persons. Data Sources: Search of the MEDLINE database by using Medical Subjec t Heading search terms and keywords related to glycosylated hemoglobin, diabete s, and cardiovascular disease. Study Selection: Prospective cohort studies with data on glycosylated hemoglobin levels and incident cardiovascular disease. Data Extraction: Relative risk estimates were derived or abstracted from each cohort study that met the inclusion criteria. Data Synthesis: Adjusted relative risk e stimates for glycosylated hemoglobin (total glycosylated hemoglobin, hemoglobin A1, or hemoglobin A1c levels) and cardiovascular disease events (coronary heart disease and stroke) were pooled by using random effects models. Three studies i nvolved persons with type 1 diabetes (n=1688), and 10 studies involved persons w ith type 2 diabetes (n=7435). The pooled relative risk for cardiovascular diseas e was 1.18; this represented a 1 percentage point increase in glycosylated hemo globin level (95%CI, 1.10 to 1.26) in persons with type 2 diabetes. Results in persons with type 1 diabetes were similar but had a wider CI (pooled relative ri sk, 1.15 [CI,0.92 to 1.43]). Limitations: This review largely reflects the lim it ations of the literature. Important concerns were residual confounding, the poss ibility of publication bias, the small number of studies, and the heterogeneity of study results. Conclusions: Pending confirmation from large, ongoing clinical trials, this analysis shows that observational studies are consistent with limi ted clinical trial data and suggests that chronic hyperglycemia is asso

关键词：心血管疾病荟萃分析慢性高血糖大型临床试验医学主题词前瞻性队列研究随机效应模型估计值事件数据临床试验数据