Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project

IntroductionLarge variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways.MethodsGenome Research at Fundacio ACE ([email protected]) is a genome-wide study of dementia and its clinical endophenotypes, defined based on AD's clinical certainty and vascular burden. We assessed the impact of known AD loci across endophenotypes to generate loci categories. We incorporated gene coexpression data and conducted pathway analysis per category. Finally, to evaluate the effect of heterogeneity in genetic studies, [email protected] series were meta-analyzed with additional genome-wide association study data sets.ResultsWe classified known AD loci into three categories, which might reflect the disease clinical heterogeneity. Vascular processes were only detected as a causal mechanism in probable AD. The meta-analysis strategy revealed the ANKRD31-rs4704171 and NDUFAF6-rs10098778 and confirmed SCIMP-rs7225151 and CD33-rs3865444.DiscussionThe regulation of vasculature is a prominent causal component of probable AD. [email protected] meta-analysis revealed novel AD genetic signals, strongly driven by the presence of clinical heterogeneity in the AD series.     

Electrophysiological differences between upper and lower limb movements in the human subthalamic nucleus

ObjectiveFunctional processes in the brain are segregated in both the spatial and spectral domain. Motivated by findings reported at the cortical level in healthy participants we test the hypothesis in the basal ganglia of Parkinson’s disease patients that lower frequency beta band activity relates to motor circuits associated with the upper limb and higher beta frequencies with lower limb movements.MethodsWe recorded local field potentials (LFPs) from the subthalamic nucleus using segmented “directional” DBS leads, during which patients performed repetitive upper and lower limb movements. Movement-related spectral changes in the beta and gamma frequency-ranges and their spatial distributions were compared between limbs.ResultsWe found that the beta desynchronization during leg movements is characterised by a strikingly greater involvement of higher beta frequencies (24–31 Hz), regardless of whether this was contralateral or ipsilateral to the limb moved. The spatial distribution of limb-specific movement-related changes was evident at higher gamma frequencies.ConclusionLimb processing in the basal ganglia is differentially organised in the spectral and spatial domain and can be captured by directional DBS leads.SignificanceThese findings may help to refine the use of the subthalamic LFPs as a control signal for adaptive DBS and neuroprosthetic devices.     

贺氏火针治疗下肢浅静脉曲张的临证体会

下肢浅静脉曲张多为大隐静脉及其属支病变，属于中医"筋瘤"范畴。贺氏火针治疗下肢浅静脉曲张疗效确切，能显著提高患者生活质量。文章认为足厥阴肝经的循行路线和大隐静脉的走向大体一致，虚、寒、湿相互作用则导致肝经"气滞"，从而引起筋脉（大隐静脉）瘀阻不通。临证时发现贺氏火针治疗下肢浅静脉曲张是通过温热刺激、刺络放血、火针针具及针刺深度4个方面共同达到行气散结、益阳补虚、温经散寒、启脉排瘀的目的，但使用不同规格的贺氏火针针具和针刺深度不同，对本病的疗效有一定程度的影响。     

中西医结合治疗帕金森病非运动症状的系统评价与Meta分析

[目的]系统评价中西医结合治疗帕金森病非运动症状的临床疗效与安全性。[方法]全面检索相关中英文数据库,搜集自建库至2018年7月所有中药联合西医基础治疗与西医基础治疗(和中药安慰剂)的临床随机对照试验,根据纳入标准、排除标准,选择符合标准的相关文献并提取资料,依据Cochrane Handbook对纳入的文献进行质量评价,并采用RevMan5.3软件进行Meta分析。[结果]最终纳入24篇RCT,共计1 836例患者,分别采用主要指标及次要指标进行评价。结果显示:NMSS量表[MD=-6.19,95%CI=(-7.68,-4.69),Chi2=0.83,DF=3,n=302];NMSQuest量表[MD=-2.17,95%CI=(-2.67,-1.68),n=601]UPDRS I量表,未进行Meta分析[Chi2=75.91,DF=10,n=882],UPDRS II量表[MD=-2.71,95%CI=(-3.34,-2.08),n=1164];PDQ-39量表[MD=-7.81,95%CI=(-9.97,-5.64),n=407]。[结论]中西医结合治疗帕金森病非运动症状有效,且优于单纯西医基础治疗。     

叶进教授从乙癸同源辨治女童青春期疾病经验撷要

乙癸同源又称"肝肾同源"，作为中医五行学说的重要组成部分，历来受到医家重视，在发展完善的过程中被用来治疗诸多病证。叶进教授作为江苏省中医院儿科生长发育专科创始人，在诊治儿童青春期内分泌疾病方面有着丰富的临床经验，临证发现小儿青春期相关疾病从"乙癸同源"角度进行辨治可以取得满意疗效。     

Intérêt du test HPV dans le dépistage primaire du cancer du col en milieu rural à Madagascar

Background

Testing for high-risk human papilloma virus (HR-HPV) is an effective approach to the prevention of cervical cancer. This study in the Atsinanana area of Madagascar aimed to compare the management of women screened by visual inspection after coloration with acetic acid (VIA) and the management of women screened by HPV with VIA as a triage test.

Postoperative compensation after neurotomy in Meniere's disease: Retrospective study of 15 cases

Introduction

Vestibular neurotomy is a functional surgery for Meniere's disease in the event of medical treatment failure. The aim of the study was to assess the efficacy and complications of vestibular neurotomy, and to address the question of postoperative compensation.