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.     

代孕技术中的伦理道德及法律问题

新近发展的代孕技术给众多不孕夫妇带来为人父母的喜悦之时,也对人们传统的生殖伦理观念形成冲击并挑战现存法律制度.人们不仅要肯定代孕技术的合理性,也要警惕其所产生的潜在的破坏性影响.合理利用该技术和制定相应的法规是避免出现伦理和社会混乱的有效途径.     

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。     

复合带瓣人工血管替换升主动脉和主动脉瓣(24例报告)

报告２４例升主动脉瘤伴主动脉瓣关闭不全行升主动脉和主动脉瓣替换及冠状动脉开口移植术（Ｂｅｎｔａｌ术２２例，底盘法２例）。１３例伴有升主动脉夹层分离，对其中８例ＤｅＢａｋｅｙＩ型者，以Ｔｅｆｌｏｎ毡条内外加固主动脉切端后吻合。１３例用人工血管周围间隙与右心耳吻合以控制升主动脉吻合之外的出血。３例以人工血管片环包主动脉吻合口控制局部广泛渗血及出血。２例术毕不能脱离体外循环死亡，手术死亡率８３％。随访平均２１８个月，２例死于蛛网膜下腔出血，１例右股动脉栓塞经手术治愈；其余病人康复良好，心功能（ＮＹＨＡ）Ｉ～ＩＩ级。     

急性心肌梗塞患者红细胞磷脂水平测定

本文测定了第１－７天急性心梗塞患者红细胞磷脂主要组分含量。结果表明，急性心肌梗塞患者红细胞膜的神经鞘磷含量较正常人明显增高；磷酯酰胆硷，磷脂酰丝氨酸、磷脂酰乙醇胺含量却较正常人明显降低。这说明急性心肌梗塞患者存在红细胞磷脂代谢紊乱，这时心肌缺血的重可能产生不良影响。