Association of genetic variants at MYP10 and MYP15 with high myopia in a Han Chinese population

Background: Previous genome-wide association study (GWAS) has revealed the association between MYP10 at 8p23 and MYP15 at 10q21.1 and high myopia (HM) in a French population. This study is managed to discover the connection between some single nucleotide polymorphism (located at MYP10 and MYP15) and Han Chinese HM.

Methods and Results: This case-control association study contained 1673 samples, including 869 ophthalmic patients and 804 controls. Twelve tag SNPs have been selected from the MYP10 and MYP15 loci and genotyped by SNaPshot method. Among 12 SNPs, rs4840437 and rs6989782 in TNKS gene were found significant association with HM. Carriers of rs4840437G allele and rs4840437GG genotype created a low risk of high myopia (P = .036, OR = 0.81, 95%CI = 0.71–0.93; P = .016, OR = 0.73, 95%CI = 0.56–0.96; respectively). Carriers of rs6989782T allele and rs6989782TT+CT genotype also had a decreased risk of high myopia (P = .048, OR = 0.82, 95%CI = 0.71–0.94; P = .006, OR = 0.74, 95%CI = 0.59–0.92; respectively). Other 10 SNPs displaced nonsignificant association with HM. Additionally, the risk haplotype AC and the protective haplotype GT, generated by two SNPs in TNKS, were considerably more likely to be association with HM (for AC, P = .002 and OR = 1.26; for GT, P = .027 and OR = 0.84).

Conclusions: Our results demonstrated that some heritable variants in the TNKS gene are associated with HM in the Han population. The possible functions of TNKS in the development and pathogenesis of hereditary high myopia still require further researches to identify.     

The quality of spontaneous adverse drug reaction reports from the pharmacovigilance centre in western China

Background: High-quality adverse drug reaction (ADR) reports are essential for conducting drug safety monitoring in pharmacovigilance. The study aim was to assess the current quality of ADR reports in western China, and to identify problems with ADR report quality.

Research design and methods: A sample of 1139 reports received by the Shaanxi ADR Monitoring Center from January 2015 to December 2017 was selected. ADR report quality was evaluated using an ADR report quality evaluation system.

Results: None of the reports were rated as excellent and 1.40% (n = 16) as good. Report quality was better for new and serious reports than for general reports. Medical institutions generated higher quality reports than pharmaceutical manufacturers. Nurses generated higher quality reports than doctors, pharmacists, and other professionals. Reporters of different occupations showed significant differences in the quality of the indicators Reporting time limit, Intervention ADR time, ADR termination time, ADR intervention measures, Original disease, and Cause of medication (P = 0.000).

Conclusions: The ADR data quality was poor in western China, and of lower quality than reported data from previous research in other regions. Improvements in the quality and availability of ADR reports are urgently needed.     

绝经后女性2型糖尿病伴骨质疏松患者骨密度与骨代谢指标的相关性分析

目的分析研究绝经后女性2型糖尿病伴骨质疏松症患者骨密度与骨代谢指标的相关性。方法选取2013年10月至2017年05月于重庆医科大学附属第一医院内分泌内科住院的绝经后女性2型糖尿病患者385名。搜集其基本资料、骨代谢指标及骨密度等。根据T值将这些患者分为骨质疏松组(233例)、骨量减少组(101例)和骨量正常组(51例),比较三组间骨代谢指标的变化,并对骨密度(bone mineral density,BMD)与各项骨代谢指标进行相关性分析。结果 1型前胶原氨基末端前肽(Type I procollagen N-terminal propeptide,P1NP)、骨钙素(bone Gla protein,BGP)在骨质疏松组显著高于骨量减少组、骨量正常组(P0.05);随着骨密度的降低,1型胶原羧基端肽β特殊序列(β-Carboxyl terminal peptide,β-CTX)逐渐升高,骨质疏松组、骨量减少组与骨量正常组相比较差异有统计学意义(P0.05);Spearman等级相关分析示P1NP、BGP、β-CTX与骨密度呈负相关,25(OH)D_3与骨密度呈现正相关。结论绝经后女性2型糖尿病伴骨质疏松症患者骨密度与骨代谢指标有一定的相关性,有助于预测骨折风险并及时抗骨质疏松治疗。     

骨形成蛋白2基因修饰的老年大鼠骨髓间充质干细胞成骨分化能力的研究

目的观察年龄因素对骨髓间充质干细胞(marrow mesenchymal stem cells, MSCs)成骨分化能力的影响;了解基因治疗对老年大鼠MSCs成骨分化能力的影响. 方法 1月龄(幼年组)、9月龄(成年组)及24月龄(老年组)雄性Wistar大鼠各6只,取MSCs经体外分离、培养及携带骨形成蛋白2(bone morphogenetic protein 2,BMP-2)基因的腺病毒载体(Ad-BMP-2)转染后,定量检测BMP-2、碱性磷酸酶(alkaline phosphate,ALP)表达,以及成骨细胞标志性蛋白:Ⅰ型胶原、骨涎蛋白(bone sialoprotein,BSP)和骨桥素(osteopontin, OPN)的表达.将转染的各组MSCs分别与磷酸三钙(tricalcium phosphate, TCP)复合后植入裸鼠体内,3周后取材,比较各组诱导异位成骨能力. 结果 ELISA检测表明BMP-2基因修饰的MSCs可以有效表达BMP-2,且表达量在各年龄组间差异无统计学意义(P>0.05);各组ALP于诱导后第9天达高峰,但组间差异均无统计学意义(P＞0.05);诱导后第7天,RT-PCR半定量检测示各组均有成骨细胞特征性蛋白,即:Ⅰ型胶原、OPN及BSP的明显表达,表达量在各组间差异无统计学意义(P>0.05);BMP-2基因转染的MSCs与TCP复合后可诱导裸鼠体内异位成骨,各组成骨量差异无统计学意义(P>0.05). 结论 BMP-2基因修饰的老年大鼠MSCs可以恢复成骨分化能力,基因治疗可能为老年性骨骼疾病提供一种新的治疗途径.     

年龄与代谢综合征的关系及防治对策

目的了解中老年人群年龄与多种代谢异常的聚集状况,为心脑血管疾病的一级预防提供依据。方法对744例中老年人按不同年龄分为5组,分析代谢综合征(MS)各项指标的变化规律及特点。结果年龄与肥胖呈明显负相关(P<0.001),与高血糖、高血压及冠心病、脑卒中呈明显正相关(P<0.05或0.001);40～60岁组MS的患病率基本一致,约为30%,70岁以后明显增加,到80岁时可高达51%(P<0.05或0.01);MS与冠心病和脑卒中的患病率均明显相关(P<0.05),随着临床指标个数的增加,冠心病的患病率增加了6.8%,脑卒中的患病率增加了7.44%。结论中年人群超重或肥胖的患病率明显高于老年组,应引起足够重视;随着年龄增长,代谢异常指标数目增多,尤其是≥3项指标的人数明显增加;MS作为心血管危险因素直接导致冠心病、脑卒中发病率增加。针对中老年人群MS的特点,制定相应的干预措施十分重要。     

本科护生实习期戴圆筒帽的三方观点调查

目的调查本科护生、带教教师和患者三方对护生实习期戴圆筒帽的看法,为更有利于护生的工作和学习以及营造祥和协调的医疗生活环境提供参考。方法采用问卷调查法及访谈法对112名本科护生及50名科室带教教师和100例患者就其对本科护生实习期戴圆筒帽的看法和建议进行调查。结果96.42%本科护生认为戴圆筒帽弊大于利,88.39%不乐意戴圆筒帽。94.00%带教教师对护生戴燕尾帽无异议。58.00%患者认为实习护生戴圆筒帽使科室护理群体看起来不协调,62.00%认为给他们一种不安全和不可信任感。结论带教实习期戴圆筒帽给护生实习带来负面影响。     

hTGF-β1基因增强组织工程化髓核修复退变腰椎间盘的实验研究

目的：探讨人转化生长因子-β1（hTGF-β1）基因修饰山羊骨髓基质干细胞（BMSCs）为种子细胞构建的组织工程化髓核对山羊退变腰椎间盘的修复作用。方法：用粗针穿刺山羊L1/2～L5/6纤维环抽取髓核制作椎间盘退变模型,同时体外培养山羊自体BMSCs并分为3组：实验组以携hTGF-β1基因重组腺病毒（Ad/hTGF-β1）转染;阴性对照组以携lacZ基因腺病毒（Ad/LacZ）转染,空白对照组为未转染细胞。抽取髓核后15d,收集3组细胞与透明质酸（HA）复合为组织工程化髓核,以细针从椎间盘原穿刺孔回植入髓核中央。L1/2至L3/4依次植入实验组、阴性对照组及空白对照组细胞;L4/5注入不含细胞的HA;L5/6不注入任何物质。术后观察24周,定期行放射学、组织学和生化检测。结果：X线片椎间隙测量显示,24周时L1/2～L4/5的椎间隙狭窄均较L5/6明显延迟（P〈0.05）;4周以内L2/3间隙的X-gal染色保持阳性;组织学评估示L1/2～L4/5退变均较L5/6为轻;免疫组化示L1/2在4周内高表达hTGF-β1、CollagenⅡ和Aggrecan,但8周后L1/2至L4/5未见显著性差异;GAG定量显示整个观察期内L1/2～L4/5均高于L5/6,其含量依次为L1/2〉L2/3=L3/4〉L4/5;对4周时L1/2至L3/4髓核组织的RT-PCR显示,L1/2的hTGF-β1、CollagenⅡ及Aggrecan的mRNA表达显著增强（P〈0.05）。结论：体外构建的组织工程化髓核回植可延缓椎间盘早期退变的进程,经hTGF-β1基因增强的组织工程化髓核对退变延缓作用尤为显著,但均无法完全逆转整个椎间盘退变进程。     

重组人骨形成蛋白2骨诱导中神经生长因子及其受体的表达

目的 观察重组人骨形成蛋白2（recombined human bone morphogenetic protein2，rhBMP-2）异位诱导成骨过程中神经生长因子（nerve growth factor，NGF）及其高亲和力受体（tyrosine kinasere ceptor A，TrkA）的表达，探讨NGF在BMP骨诱导中的作用。方法ICR小鼠36只，随机分为实验组和对照组，每组18只，均制备右侧股后部肌袋异位成骨模型。实验组植入含rhBMP-2胶原复合物，对照组仅植入相同体积的胶原海绵。分别于术后7、14和21d取材，行大体、组织学、免疫组织化学观察及RT-PCR检测。结果大体观察实验组术后7d，右股后部可扪及较硬肿块；术后14、21d，肿块硬度增加。对照组各时间点未发现肿块。组织学观察实验组中rhBMP-2胶原复合物具有良好的诱导成骨能力，免疫组织化学结果显示骨诱导材料植入后7d，NGF于成纤维细胞、成软骨细胞、软骨细胞、肥大软骨细胞和成骨细胞中均有阳性表达；14d，NGF阳性表达局限于部分成骨细胞、幼稚骨细胞和成骨样细胞，同时在骨髓中单核巨噬细胞、多核巨噬细胞和破骨细胞中有明显表达；21d，只有少量成骨样细胞和破骨细胞以及骨髓中多核巨噬细胞有NGF表达；TrkA免疫组织化学染色与NGF的表达基本一致。对照组术后各时间点未见成骨现象。实验组NGFmRNA的RT-PCR检测显示，术后7dNGF的mRNA表达最高，14d表达下降，21d只有微量表达。结论rhBMP-2复合物是一种有效的诱导成骨材料。在外源性BMP诱导成骨过程中有明显的NGF及其高亲和力受体TrkA的表达，NGF可以通过直接和间接的方式参与BMP的诱导成骨过程。     

全科医学与睡眠医学如何协同发展

全科医学和睡眠医学作为国内目前新兴的两个临床学科,两者在学科建设过程中存在着诸多交集,互补性强,在学科发展和人才培养上存在一定的交叉融合。中国专科医师培训认证制度在人才培养方面为全科医师从事睡眠医学工作开辟了道路,使其有良好的协同发展的基础及必要性。本文分析了目前中国全科医学与睡眠医学两者学科协同发展的基础及学科协同共建的必要性,介绍了南京医科大学附属无锡人民医院在全科医学与睡眠医学学科共建方面取得的经验,并邀请相关专家就目前存在的问题进行讨论。