Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

A novel mutation was identified in two unrelated patients with medium-chain acyl-CoA dehydrogenase deficiency. First, a 19-year-old Caucasian female presented with a devastating illness, resulting in sudden death in adulthood which is unusual. The second patient, now a 3.5-year-old male, presented at 17 months of age with a hypoglycemic seizure and dehydration. Sequence analysis revealed a novel mutation G617T in exon 8 resulting in an arginine to leucine substitution at codon 206 (R206L). Both patients were compound heterozygous for this G617T and the common mutation A985G.     

大鼠再生肝对二乙基亚硝胺启动作用的敏感性

目的比较再生肝和正常肝对二乙基亚硝胺（ＤＥＮ）启动作用的敏感性。方法以２／３肝叶切除后８周末的大鼠为实验组,正常大鼠为对照组,作如下比较：肝重、常规组织学检查及３Ｈ－ＴｄＲ掺入试验;用修改的Ｓｏｌｔ－Ｆａｒｂｅｒ模型,通过对ＧＧＴ阳性癌前病灶的体视学测量,观察肝脏对ＤＥＮ的启动效应;在体内和体外（无血清原代培养肝细胞）经ＤＥＮ攻击后,以核酸原位缺口标记方法观察肝细胞ＤＮＡ的损伤程度。结果２／３肝叶切除后８周末的实验组肝脏的修复过程已完成,未见肝细胞继续增生的表现;经ＤＥＮ攻击后,实验组肝癌前病灶在数密度和体积密度上都显著高于对照组;无论在体内或体外接受ＤＥＮ攻击后,实验组肝细胞ＤＮＡ的损伤程度都显著大于对照组。结论即使再生过程已经完成,再生肝仍比正常肝具有较高的致癌敏感性,这与再生肝肝细胞在ＤＥＮ攻击后其ＤＮＡ损伤较重相关。     

Intradialytic systolic blood pressure variation can predict long-term mortality in patients on maintenance hemodialysis

International Urology and Nephrology - It is unclear which time-points of intradialytic blood pressure (BP) best predict prognosis. Thus, it is important to assess the association between different...     

An Environmental Dilemma for China During the COVID-19 Pandemic: The Explosion of Disposable Plastic Wastes

Plastic pollution control has been on top of the political agenda in China. In January 2020, China announced a phased ban on the production and usage of various types of single-use plastics as a solution to environmental pollution problems. However, the outbreak of COVID-19 seems to be a new obstacle to the ban on single-use plastic products. To basically satisfied the daily necessities and contain the spread of SARS-CoV-2 under the background of the regular epidemic prevention and control in China, online ordering, contactless delivery and wearing mask have become an important and feasible way of daily life. However, the unrestrained use of disposable plastic bags, lunch boxes and masks within the nationwide quarantine leads to hundreds of millions of plastics wastes every day. The potential environmental pollution caused by the use of disposable plastic products during the pandemic should arouse social concern. The Chinese government should manage environmental protection in parallel with anti-pandemic endeavors as the situation of the pandemic evolves.

     

步枪立姿射击稳定性的力学特征

射击运动技术是衡量运动员水平的关键，它对运动员姿态控制的稳定性有相当高的要求。本文以步枪立姿运动为例，分析其姿态控制的力学特征，运用运动稳定性原理，求得人体上躯干最佳姿态控制角，并论证了人体躯干长度，前臂长度对稳定性的影响。最后将理论结果与对一些国内外著名运动员实测参数比较分析，证明了理论结论与实际基本相符。     

RNA silencing: a conserved antiviral immunity of plants and animals

RNA silencing is a novel RNA-guided gene regulatory mechanism operational in a wide range of eukaryotic organisms from fission yeast, plants, to mammals. This article reviews the recent progress on aspects of RNA silencing that are related to its biological function as a conserved antiviral immunity of plants and animals, and highlights features of this novel antiviral response in invertebrate animals as compared to the known innate and adaptive immunities. Finally, we discuss evidence that suggests a natural antiviral role for RNA silencing in vertebrates as well as experimental approaches that may facilitate the identification of first mammalian viral suppressors of RNA silencing.     

Specific cerebellar reductions in children with chromosome 22q11.2 deletion syndrome

Children with chromosome 22q11.2 deletion syndrome commonly are found to have morphological brain changes, cognitive impairments, and elevated rates of psychopathology. One of the most commonly and consistently reported brain changes is reduced cerebellar volume. Here, we demonstrate that, in addition to the global cerebellum reductions previously reported, volumetric reductions of the anterior lobule and the vermal region of the neo-cerebellum in the mid-sagittal plane best differentiate children with the deletion from typically developing children. These results suggest that the morphological changes of specific portions of the cerebellum may be an important underlying substrate of cognitive impairments and increased incidence of psychopathology in this group.     

定量PCR检测缺失型DMD/BMD携带者的研究

研究DMD/BMD携带者临床诊断的有效手段。方法 :运用双重定量PCR及剂量系数分析 ,检测 2 6例正常对照 ,7例肯定携带者和 2 1例可疑携带者 ,部分结果与短片段重复顺序多态性方法及CK值作了比较。结果 :确定了判定参考标准 ,可疑携带者中 ,患儿母亲检测阳性率为 5 7.9% ,8例经短串联重复顺序多态性分析 ,得到了完全验证。结论 :定量PCR检测DMD/BMD携带者快速、敏感、准确 ,可在临床诊断中应用。     

医学科研论著归级分等问题的思考

医学科研论文和著作是医学科技工作者研究成果的文字表达形式 ,越来越受到医学科技工作者的重视。国内医学领域科学期刊已有数百种 ,每年发表的论文达万篇以上。面对医学科研论著激增的态势 ,探讨其归级分等的标准与操作问题 ,已愈来愈引起业内人士的重视。1　医学科研论著归级