Objective To study the clinical and genetic features of Huntington's disease (HD). Methods The data of clinical information and heredity in 28 patients with HD from 6 Chinese families were analyzed retrospectively. Results There were 28 patients in 6 pedigrees, including 15 males and 13 females. The onset age of all patients was 26～72 years old and the course of disease was variable from 6 years to more than 20 years, and there were 6 gene carriers, including 2 males and 4 females. These patients mainly appeared progressively chorea movement, with mental abnormalities (3 cases), dementia (1 case),ataxia (3 cases), dysarthria and dysphay in late stag (10 cases). Brain MRS of one gene carrier demonstrated significant Lac inversion hump in bilateral lenticular nucleus. Six pedigrees showed autosomal dominant inheritance. HD patients and gene carriers had an abnormal expansion of CAG (n≥37). Moreover, in 4 pedigrees, the onset age was earlier in the subsequent generations. Conclusions HD is an autosomal dominant neurodegenerative disorder with genetic anticipation and diversified clinical presentations. The (CAG)n expansion at the IT15 gene is the disease-causing mutation in the six pedigrees.

Objective To investigate the correlation between 24-h ambulatory blood pressure variability and the overall burden of cerebral small vessel disease (CSVD) in patients with acute ischemic stroke. Methods From March 2016 to December 2017, consecutive patients with acute ischemic stroke admitted to the Department of Neurology, the Affiliated Changshu Hospital of Soochow University were enrolled. The 3. 0 T-MRI was used to assess asymptomatic lacunar infarction, white matter hyperintensities, cerebral microbleeds, and enlarged perivascular spaces within 24 h after admission, and the total CSVD score (0-4) was calculated. 24-h ambulatory blood pressure monitoring was performed 24 to 72 h after admission. Ordinal logistic regression analysis was used to determine the independent correlation between the 24-h ambulatory blood pressure-related index and the total CSVD score. Results A total of 220 patients with acute ischemic stroke were enrolled. The patients were divided into five groups according to the total CSVD score. Univariate analysis showed that there were significant differences in age, homocysteine, the proportion of hypertension, as well as 24 h, daytime and nighttime mean systolic blood pressure (SBP), and coefficient of variation of daytime SBP among the 5 groups (all P < 0. 05). Ordinal logistic regression analysis showed that age (odds ratio [OR] 1. 078, 95％ confidence interval [CI] 1. 051-1. 106; P < 0. 001), 24-h mean SBP (OR 1. 043, 95％ CI 1. 026-1. 060; P < 0. 001), daytime mean SBP (OR 1. 042, 95％ CI 1. 025-1. 059; P < 0. 001), nighttime mean SBP (OR 1. 034, 95％ CI 1. 019-1. 049; P < 0. 001), and coefficient of variation of daytime SBP (OR 1. 129, 95％ CI 1. 052-1. 210; P = 0. 003) were independently correlated with the total CSVD score. Conclusions The elevated 24 h, daytime and nighttime mean SBP levels and coefficient of variation of daytime SBP are independently correlated with the severity of overall CSVD burden in patients with acute ischemic stroke.

Objective To investigate the protective effect of complement 5a receptor 1 (C5aR1) antagonist on ascending urinary tract infection in mice.Methods (1) Female C57BL/6 mice were randomly divided into experimental and control groups:38 mice in each group,and inoculated with E.coli by urethral catheterization to set up the ascending urinary tract infection model.C5aR1 antagonist (W54011 or PMX53) and corresponding control (PBS or control peptide) were initially given either at 2 h before or 3 h after infection by intraperitoneal injection.Mice were sacrificed to assess the infection in bladder and kidney at 24 or 48 h after infection.The bacterial load of bladder and kidney tissue was measured by agar plate assay.The mRNA expression of renal inflammatory factors was detected by real-time RCR.The renal tissue injury and inflammatory cell infiltration were assessed by HE staining and pathological scores.(2) Primary cultured renal tubular epithelial cells were randomly divided into antagonist and control groups to detect and compare the bacterial adhesion to renal tubular epithelial cells in vitro.Results Compared with control groups,the initial delivery of C5aR1 antagonist (W54011 or PMX53) before E.coli inoculation reduced the bacterial load in bladder and kidney tissue 48 h after infection (all P ＜ 0.01).In experimental group given W54011 before infection,the renal pathological scores were reduced (both P ＜ 0.05),as well as renal inflammatory factor expressions:CXCL-1 mRNA,IL-6 mRNA and TNF-o mRNA (all P ＜ 0.05).Compared with corresponding control groups,the initial delivery of PMX53 after E.coli inoculation could also reduce the bacterial load in bladder and kidney tissue 48 h after infection (both P ＜ 0.01).Furthermore,C5aR1 antagonists W54011 and PMX53 could decrease bacteria adhesion to renal tubular epithelial cells in vitro,compared with control groups (both P ＜ 0.05).Conclusions C5aR1 antagonists can significantly attenuate renal tissue injury,ameliorate renal inflammation and the adhesion of bacteria to renal epithelial cells.C5aR1 may be an effective target for the prevention and treatment of urinary tract infection.