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原发性开角型青光眼患者小梁网糖皮质激素诱导反应蛋白和视神经病变诱导反应蛋白基因多态性的研究

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中华医学杂志 2006年第8期86卷 554-559页

作者：姚红艳程景煜范宝剑谭霭仙谭智勇王丹艺林顺潮彭智培香港中文大学眼科及视觉科学系台湾国立阳明大学台北荣民总医院眼科

目的探讨小梁网糖皮质激素诱导反应蛋白(MYOC)和视神经病变诱导反应蛋白(OPtN)基因的单核苷酸多态性(SNP)及其与正常眼压性青光眼(NtG)和高眼压性青光眼(HtG)发病的关系。方法应用聚合酶链反应(PCR)扩增全基因组DNA,用构像敏感性凝胶电... 详细信息

目的探讨小梁网糖皮质激素诱导反应蛋白(MYOC)和视神经病变诱导反应蛋白(OPtN)基因的单核苷酸多态性(SNP)及其与正常眼压性青光眼(NtG)和高眼压性青光眼(HtG)发病的关系。方法应用聚合酶链反应(PCR)扩增全基因组DNA,用构像敏感性凝胶电泳(CSGE)和荧光标记自动DNA测序法筛选和鉴定94例HtG,48例NtG和77名正常对照的MYOC基因和OPtN基因的SNP。结果共检测出14个MYOC基因序列改变,5个为新序列改变(V53A,i304i,t347t,1-126t>C和iVS2+172C>A)。其中V53A错义突变首次在POAG中发现;1-83G>A通常与R76K伴随出现;各SNP的等位基因及基因型在HtG,NtG与对照组间差异无统计学意义(P>0·05)。对OPtN基因,共检测出12个SNP,3个为新序列改变(V161M,i407t和L211L),其中i407t和L211L仅在HtG患者中检测到。此外,同义突变t34t在NtG患者中,其等位基因和基因型频率与对照组相比,差异均有统计学意义(P=0·001和0·004);而在HtG患者中,只有等位基因频率与对照组相比,差异有统计学意义(P=0·044)。位于内含子区域的序列改变iVS8+20G>A,其等位基因和基因型频率在HtG、NtG与对照组之间,差异均有统计学意义(P=0·016和0·014;P=0·027和0·026)。结论MYOC和OPtN基因多态性可能与中国人的POAG发病相关,不引起氨基酸改变的基因序列改变在POAG致病中可能起一定的作用。

关键词：青光眼开角型基因突变

对伴有或不伴有HP感染的良性胃出口梗阻行内镜下球囊扩张术

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世界核心医学期刊文摘（胃肠病学分册） 2005年第2期1卷 31-31页

作者： lam Y.-H. Yun-wong Lau J. Ming-kit Fung t. S.Sheung-chee Chung 翟惠虹 Department of Surgery Dept.of Medicine and Therapeutics Prince of Wales Hospit alShatin Hong Kong ChinaDr.

Background Endoscopic balloon dilation has been used to treat patients with ga st.ic outlet obstruction caused by peptic *** study assessed the role of endoscopic balloon dilation in patients with gast.ic outlet obstruction with or without Helicobacter pylori infection. Methods Consecutive patients seen bet ween January 1996 and September 2001 with benign gast.ic outlet obstruction (def ined as stenosis preventing the passage of a 9-mm diameter endoscope, vomiting, succussion splash, and recent weight loss) were prospectively studied. Exclusio n criteria were the following: refusal to undergo dilation, and gast.ic outlet o bstruction because of malignancy. At endoscopy, antral biopsy specimens were obt ained for histopathologic evaluation and for a rapid urease test for Helicobacte r pylori *** then underwent dilation with through-the-scope bal *** balloon dilation, patients with Helicobacter pylori infection were t reated to eradicate the infection. Results Fifty one patients (33 men, 18 women; median age 65 years; iQR 44-79 years) were studied; 33 consented to endoscopic balloon dilation. Symptom resolution occurred in 25 patients (14 Helicobacter p ylori positive, 11 Helicobacter pylori negative).During amedian follow-up of 24 months (iQR 16-40 months), 3 of 14 patients in the Helicobacter pylori positiv e group and 6 of 11 in the Helicobacter pylori negative group developed further ulcer complications (p=0.039). Conclusions After endoscopic dilation for gast.ic outlet obstruction, eradication of Helicobacter pylori infection is associated with fewer ulcer complications.

关键词：胃出口梗阻 HP感染球囊扩张术尿素酶试验活检标本排除标准阴性患者病理学检查

基于广州生物库队列的轻度认知障碍与卒中死亡关系的巢式病例对照研究

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中国慢性病预防与控制 2018年第12期26卷 890-894页

作者：陆泽雄江朝强胡志兵朱峰张维森徐琳靳雅丽林大庆广州医科大学附属市十二人民医院神经内科广东省广州510620 广州市第十二人民医院分子流行病学研究室中山大学公共卫生学院流行病教研室香港大学公共卫生学院社会医学系

目的探讨轻度认知障碍(mild cognitive impairment,MCi)与卒中死亡的关系,为卒中的防控工作提供科学参考,方法基于广州生物库中老年队列,排除基线已有卒中或冠心病者,采用巢式病例对照研究模式,以2003年9月至2008年2月入组队列并在随访... 详细信息

目的探讨轻度认知障碍(mild cognitive impairment,MCi)与卒中死亡的关系,为卒中的防控工作提供科学参考,方法基于广州生物库中老年队列,排除基线已有卒中或冠心病者,采用巢式病例对照研究模式,以2003年9月至2008年2月入组队列并在随访期确认死亡原因为卒中的160名研究对象为病例组,1:4匹配同期参加队列的640名生存者为对照组;以单词延迟记忆测试(Delayed word Recall ***)得分低于4分作为MCi的评估指标。应用SPSS22.0软件进行t检验、χ^2检验,用条件logistic回归模型对MCi与卒中死亡的关系进行分析。结果病例组DWRt得分低于4分者43人.对照组DWRt得分低于4分者108人,病例组的MCi患病率(26.9%)高于对照组(16.9%),差异有统计学意义(Pi增加卒中死亡风险(OR=1.60,95%Ci:1.04~2.46,Pi与卒中死亡风险增高相关,提示MCi早期筛查与有效干预对减少卒中死亡具有积极意义。

关键词：卒中死亡轻度认知障碍单词延迟记忆测试巢式病例对照研究

Proteolipid prot.in 1(PLP1) gene mutation in Chinese patients with Pelizaeus-Merzbacher disease

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Proteolipid protein 1(PLP1) gene mutation in Chinese patient...

青少年特发性脊柱侧凸病人直立位对小脑扁桃体水平的影响

中国神经科学学会第四次会员代表大会暨第七届全国学术会议

作者： Jing-Min WANG~1,Ye WU~1,tony M.F.tONG~2,Stephen t.S.lam~2,Hui-Fang WANG~3,Xin-yi Li~3,Yan-Ling YANG~1,Jiong QiN~1,Xi-Ru WU~1,Yu-Wu JiANG~1 1 Department of Pediat.ics,Peking University First Hospital,Beijing,100034,China 2 Clinical Genetic Service,Department of Health,HKSAR Government,Hong Kong,China 3 Department of Neurology,First Hospital affiliated to Shanxi Medical University,t.iyuan 030001,China

Objective Pelizaeus-Merzbacher disease(PMD;OMiM 312080) is a rare X-linked recessive disorder presenting with nystagmus,impaired motor development,ataxia,and progressive ***,PMD is divided into classical,transitional and connatal *** main cause of PMD is Proteolipid prot.in(PLP1) gene ***1 gene(GenBank NM00533) is located at chromosome Xq22.2,covers approximately 17 kb genomic DNA and cont.ins seven exons encoding 276 amino *** of the PLP1 gene is the most frequent gene defect,accounting for 50%-70%of PMD cases,whereas point mutations in the coding sequence or affecting splice sites account for 10%-25%of PMD *** ligation-dependent probe amplification(MLPA) is based on the ligation of two adjacent annealing oligonucleotides followed by quantitative PCR amplification of the ligated *** has been described recently, which is a efficient method to detect DNA duplications and *** to identify Proteolipid prot.in 1(PLP1) mutations in eight unrelated Chinese patients(P1-8) with Pelizaeus-Merzbacher disease(PMD) and 14 subjects from family (P2),and analyze the correlation between the genotype and *** Genomic DNA was extracted from peripheral bloods *** was used for detecting the PLPl copy number changes using probe mix SALSA P022 obt.ined from MRC Holland,Amsterdam,the *** mix included a total of 32 probes,of which seven were for each of the PLP1 exons,eight were from different regions of the X chromosome,one was from the Y chromosome and the remainders were autosomal probes for internal *** of probe sequences,gene loci and chromosome locations can be found at http://*** reactions were carried out.in a thermal cycler according to the recommended protocol by the *** software allowed determination of the peak area for each PCR product, and these data were entered into a spreadsheet.in a Microsoft tM Excel

关键词： Pelizaeus-Merzbacher disease(PMD) proteolipid prot.in 1(PLP1) gene multiplex ligation-dependent probe amplification(MLPA) mutation

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国际医学放射学杂志 2015年第5期 506-506页

作者： R.K.L.Lee J.F.Griffith J.H.Y.Leung W.C.W.Chu t.P.lam B.K.W.Ng 张鹏 Faculty of Medicine The Chinese University of HongKongPrince of Wales Hospital

摘要目的本研究的目的是调查青少年特发性脊柱侧凸(AiS)病人直立位对小脑扁桃体水平的影响。材料与方法25例临床诊断为AiS的病人和18名正常对照组均行仰卧位及直立位0.25 t MR检查。测量小脑扁桃体尖端与颅底枕后连线(BO线)的相对位置,... 详细信息

摘要目的本研究的目的是调查青少年特发性脊柱侧凸(AiS)病人直立位对小脑扁桃体水平的影响。材料与方法25例临床诊断为AiS的病人和18名正常对照组均行仰卧位及直立位0.25 t MR检查。测量小脑扁桃体尖端与颅底枕后连线(BO线)的相对位置,计量单位为毫米。结果 18名正常对照组无论仰卧位或直立位,小脑扁桃体均不低于BO

关键词：小脑扁桃体直立位 AiS 特发性脊柱侧凸病人

青少年特发性脊柱侧凸主弯侧凸Cobb角、胸椎后凸角及腰椎前凸角仰卧位MRi与站立位X线测量的对比研究

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中华解剖与临床杂志 2017年第1期22卷 6-10页

作者：史本龙林子平毛赛虎刘臻孙旭郑振耀邱勇朱泽章南京大学医学院附属鼓楼医院脊柱外科南京210008 香港中文大学矫形外科与创伤学系

目的：探讨仰卧位MRi与站立位X线全脊柱片在青少年特发性脊柱侧凸（ AiS）患者侧凸Cobb角、胸椎后凸角（ tK）及腰椎前凸角（ LL）测量上的差异性和相关性。方法选取2008年1月—2016年1月行外科支具治疗或手术治疗且密切随访的120例AiS... 详细信息

目的：探讨仰卧位MRi与站立位X线全脊柱片在青少年特发性脊柱侧凸（ AiS）患者侧凸Cobb角、胸椎后凸角（ tK）及腰椎前凸角（ LL）测量上的差异性和相关性。方法选取2008年1月—2016年1月行外科支具治疗或手术治疗且密切随访的120例AiS患者的站立位X线全脊柱片和仰卧位MRi全脊柱重建片资料进行回顾性分析。于站立位X线全脊柱正侧位片上分别测量主弯侧凸Cobb角、tK及LL。于患者仰卧位MRi全脊柱冠状面和矢状面重建片上的相同节段测量侧凸Cobb角、tK和LL。应用配对t检验及线性回归分析两组之间测量值的差异性及相关性。结果120例站立位X线片上和仰卧位MRi上主弯侧凸Cobb角分别为33.8°±20.1°和24.9°±18.3°,tK分别为15.2°±9.7°和10.5°±7.7°,LL分别为43.6°±13.8°和37.1°±13.5°,差异均有统计学意义（P值均〈0.01）。线性相关分析显示,站立位X线片上和仰卧位MRi上主弯侧凸Cobb角、tK和LL均有相关性, r 分别为0.920、0.706和0.565（ P 值均〈0.01）。线性回归分析得回归方程为：^Y站立位X线侧凸Cobb角=0.901× X仰卧位MRi侧凸Cobb角＋12.517、^Y站立位X线tK =1.055× X仰卧位MRi tK ＋3.865、^Y站立位X线LL=0.718× X仰卧位MRi LL ＋17.135。结论仰卧位MRi与站立位X线片在AiS患者主弯侧凸Cobb角、tK及LL的测量具有差异且呈线性相关,利用仰卧位MRi可计算出站立位X线片上患者的侧凸Cobb角、tK和LL。

关键词：脊柱侧凸青少年磁共振成像放射摄影术 Cobb角胸椎后凸角腰椎前凸角

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能譜Ct碘/水基圖體模旁實驗研究

镜湖医学 2019年第1期19卷 9-11页

作者：楊貞勇杜芷瑩郭漢霖周綺瑩澳門鏡湖醫院影像科中国

目的在體模旁實驗環境下觀察Ct的能譜成像(gemstone spectral imaging,GSi)技術對塑膠及玻璃試管內純生理鹽水Ct值及碘含量值的影響,比較不同濃度碘含量的生理鹽水測量值與真實值間的差異,從而評價GSi方法測定物質內碘含量的可信度和準... 详细信息

目的在體模旁實驗環境下觀察Ct的能譜成像(gemstone spectral imaging,GSi)技術對塑膠及玻璃試管內純生理鹽水Ct值及碘含量值的影響,比較不同濃度碘含量的生理鹽水測量值與真實值間的差異,從而評價GSi方法測定物質內碘含量的可信度和準確性。方法用7個瓶,其中2個分別裝有純生理鹽水(分別為玻璃瓶及塑膠瓶),其餘5個(玻璃瓶)裝有不同碘含量的生理鹽水(含碘量分別為0.093g/100m l、0.185g/100m l、0.37g/100m l、0.74g/100ml、1.48g/100ml),並置於體模旁進行能譜Ct掃描,並做相應碘含量測量。結果1.塑膠及玻璃試管兩種材質對純生理鹽水的C t值有影響(P值=0.02),而對碘含量值沒有影響(P值=0.156)。2.含碘量分別為0.093g/100ml(9.3*100ug/ml)、0.185g/100ml(18.5*100ug/m l)、0.37g/100m l(37*100u g/m l)、0.74g/100m l(74*100u g/m l)、1.48g/100m l(148*100u g/m l)的生理鹽水測量所得平均值分別為0.0933 g/100 m l(9.33*100 u g/m l)、0.197g/100m l(19.7*100u g/m l)、0.36g/100m l(36.0*100u g/m l)、0.737g/100m l(73.7*100u g/ml)、1.47g/100ml(147*100ug/ml)。結論能譜Ct碘含量測量值能準確地反映不同濃度溶液的真實碘含量,可以用於定量分析,對於受周圍高密度組織干擾所致的影響小(比C t值受影響小)。

关键词：能譜 X線計算機體層攝影術碘 Ct值

Global and communicative development skills in preschool children with cleft lip and palate

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Pediat.ic investigation 2021年第1期5卷 33-37页

作者： Mayalle Rocha Bonfim Jurado Maria Gabriela Cavalheiro Camila de Castro Correa Melina Evangelista Whitaker Simone Rocha de Vasconcelos Hage Dionisia Aparecida Cusin lamonica Luciana Paula Maximino Department of Speech-Language Pathology and Audiology Bauru School of DentistryUniversity of Sao PauloBauruSPBrazil Hospital for Rehabilitation of Craniofacial Anomalies University of Sao PauloBauruSPBrazil Plateau University Center of the Federal Dist.ict UNIPLANBrasiliaDistrito FederalBrazil University of Brasilia UnBBrasiliaDistrito FederalBrazil

importance:Cleft lip and palate(CLP)is globally among the most common childhood *** disorder impacts childhood development.including speech and language,and affects children ***:to analyze child development skills(adaptive fine motor,gross motor,personal-social,and language)in preschool children with isolated CLP compared with children without t.is ***:the participants included an experimental group of 27 children with isolated CLP and a comparison group of 27 children without CLP aged between 48 and 59 *** groups were evaluated using two instruments:the Denver Developmental Screening test.ii(DDSt.ii)and the Avaliapao do Desenvolvimento da Linguagem(ADL-Language Development Assessment).Data were analyzed by descriptive and inductive analyses,using the Student’s Mest and the Mann-Whitney test,at a significance level of Pildren in the comparison group performed wit.in normal standards for their age range in the DDSt.ii and the *** worst performance in the experimental group was observed in language skills,followed,in declining order,by adaptive fine motor,personal-social,and gross motor as measured by the *** with isolated CLP also performed poorly in receptive,expressive,and global language in the *** statistically significant differences were observed in the experimental group’s scores for the ADL and the ***:Developmental skill levels were below expectations for children of t.is age with isolated CLP.

关键词： Cleft lip and palate Language Child Preschool

2-4 First.isochronous Mass Measurement.in Neutron-rich Region at CSRe

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iMP & HiRFL Annual Report 2014年第1期 33-34页

作者： Xu Xing Wang Meng Zhang Yuhu Xu Hushan tu Xiaolin Yu.A.Lit.inov Zhou Xiaohong Sun Baohua Yuan Youjin Xia Jiawen Yang Jiancheng K.Blaum Chen Ruijiu Chen Xiangchen Fu Chaoyi Ge Zhuang Hu Zhengguo Huang Wenjia Liu Dawei Y.H.lam Ma Xinwen Mao Ruishi t.Uesaka Xiao Guoqing Xing Yuanming t.Yamaguchi Y.Yamaguchi Zeng Qi Yan Xinliang Zhao Hongwei Zhao tiecheng Zhang Wei Zhan Wenlong 不详

Mass is one of the fundamental properties of atomic nuclei. isochronous mass spectrometry (iMS), using astorage ring combined with an in-flight separator, has been shown to be a powerful tool for mass measurementof exotic nuclei[1]. Recently, masses of many proton-rich nuclides were accurately determined at the HiRFL-CSRfacility[2]. in t.is paper, we described the first.isochronous mass measurement of neutron-rich nuclides at *** experiment was performed at the end of 2011. in the experiment, the primary beam of 86Kr28+ ions wasaccumulated and accelerated to an energy of 460.65 MeV/u in the synchrotron CSRm. the 86Kr28+ ions were fastextracted and focused on a 15 mm t.ick beryllium target which was placed at the entrance of the RiBLL2 (anin-flight fragment separator).

关键词： isochronous Mass Measurement