Altered immune pathways in patients of temporal lobe epilepsy with and without hippocampal sclerosis.

Over the past decades, the immune responses have been suspected of participating in the mechanisms for epilepsy. To assess the immune related pathway in temporal lobe epilepsy (TLE), we explored the altered immune pathways in TLE patients with and without hippocampal sclerosis (HS). We analyzed RNA-seq data from 3 TLE-HS and 3 TLE-nonHS patients, including identification of differentially expressed RNA, function pathway enrichment, the protein-protein interaction network and construction of ceRNA regulatory network.

Combined exposure to multiple air pollutants and incident ischemic heart disease in individuals with and without type 2 diabetes: A cohort study from the UK Biobank.

Background: Air pollution and type 2 diabetes (T2D) are both associated with an increased risk of ischemic heart disease (IHD). Little is known about the combined effects of multiple air pollutants on IHD risk, especially among individuals with T2D. We sought to assess the association of combined exposure to multiple air pollutants with incident IHD and examine the modification effect of T2D.

Verapamil suppresses cardiac alternans and ventricular arrhythmias in acute myocardial ischemia via ryanodine receptor inhibition.

T-wave alternans (TWA) is a potent arrhythmia substrate under the conditions of acute myocardial ischemia. Abnormal intracellular calcium cycling contributes to the genesis of cardiac alternans. Ryanodine receptor (RyR) is a pivotal Ca cycling protein central to Ca signaling in the heart.

Interictal epileptiform discharges were associated with poorer cognitive performance in adult epileptic patients.

Objective: Cognitive impairment is one of the major consequences of epilepsy and has been shown to reduce quality of life. Interictal epileptiform discharges (IEDs) were associated with poorer cognitive performance in children, and the aim of this study was to determine whether there was a similar association in adults.

Methods: A prospective cohort of 167 seizure-free adult patients underwent EEG recording and extensive cognitive evaluations.

Plasma metabolite profiles of Alzheimer's disease and mild cognitive impairment.

Previous studies have demonstrated altered metabolites in samples of Alzheimer's disease (AD) patients. However, the sample size from many of them is relatively small and the metabolites are relatively limited. Here we applied a comprehensive platform using ultraperformance liquid chromatography-time-of-flight mass spectrometry and gas chromatography-time-of-flight mass spectrometry to analyze plasma samples from AD patients, amnestic mild cognitive impairment (aMCI) patients, and normal controls.

Validation of the Chinese version of Addenbrooke's cognitive examination-revised for screening mild Alzheimer's disease and mild cognitive impairment.

Background/aims: As a suitable test to screen for Alzheimer's disease (AD) or mild cognitive impairment (MCI), studies to validate the Chinese version of Addenbrooke's Cognitive Examination-Revised (ACE-R) are rare.

Methods: A total of 151 subjects were recruited and the neuropsychological assessments were employed. One-way analysis of variance and Bonferroni correction were used to compare scores of different psychometric scales.

A complex association of ABCA7 genotypes with sporadic Alzheimer disease in Chinese Han population.

Purpose: Recently, a large genome-wide association study has revealed that polymorphism of alleles and genotypes in rs3,764,650 within ABCA7 gene is associated with Alzheimer disease in whites. We conducted a case-control study to investigate whether these susceptible genetic variants are risk factors for sporadic Alzheimer disease (SAD) in Chinese Han population.

Design And Methods: A total of 633 participants consisting of 350 SAD and 283 nondemented elderly controls matched for sex and age were recruited and genetic variants in ABCA7 (rs3,764,650) were genotyped using DNA sequencing.

The association between two single nucleotide polymorphisms within the insulin-degrading enzyme gene and Alzheimer's disease in a Chinese Han population.

Several previous studies on the relationship between the insulin-degrading enzyme (IDE) gene and Alzheimer's disease (AD) have connected certain genetic variants to late-onset AD, in the absence of the apolipoprotein E (APOE)ε4 allele. However, the conclusions of these studies remain controversial. We investigated the association between two polymorphisms of IDE with AD in the Chinese population and found that the T/A genotype of rs4646958 had an important role in AD (adjusted p=0.

The prevalence of CD33 and MS4A6A variant in Chinese Han population with Alzheimer's disease.

CD33 and MS4A6A genes play potential key roles in the pathogenesis of Alzheimer's disease (AD). One recent genome-wide association study has revealed that the rs3865444 polymorphism in the CD33 gene and rs610932 polymorphism in the MS4A6A gene are associated with susceptibility to AD in Caucasians. To evaluate the relationship between the polymorphism of the CD33, MS4A6A gene and AD in the ethnic Chinese Han, we conducted a case-control study (n = 383, age > 54) to determine the prevalence of single-nucleotide polymorphism of two genes in patients with AD in Chinese population of Mainland, and clarified whether these polymorphisms are risk factors for AD.

Association study of clusterin polymorphism rs11136000 with late onset Alzheimer's disease in Chinese Han population.

Objective: We conducted a case-control study to investigate whether clusterin polymorphism (rs11136000) was associated with late-onset Alzheimer's disease in Chinese Han population.

Methods: Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay was performed on genotype rs11136000 and APOEε4 in 127 patients with late-onset Alzheimer's disease and 143 control individuals. Previous published data from other Chinese samples was also included for further meta-analysis.

The MTHFD1L gene rs11754661 marker is associated with susceptibility to Alzheimer's disease in the Chinese Han population.

Our objective is to evaluate the relationship between the rs11754661 polymorphism of the MTHFD1L gene and Alzheimer's disease (AD) in the ethnic Chinese Han. We conducted a case-control study (n=380, age>50) to determine the prevalence of one common single-nucleotide polymorphism (SNP) of MTHFD1L (rs11754661) in patients with AD in Chinese population of Mainland China, and clarified whether this polymorphism is a risk factor for AD. The prevalence of the minor allele (A) in the rs11754661 polymorphism was significantly different in AD patients and control subjects (P<0.

Genetic polymorphisms in sigma-1 receptor and apolipoprotein E interact to influence the severity of Alzheimer's disease.

Apolipoprotein E (APOE) ε4 allele and sigma-1 receptor (SIGMAR1) c.5C (Q2P) polymorphisms have been acknowledged as risk factors for developing Alzheimer's disease (AD). However, whether these polymorphisms influence the disease process is unclear.

Association study of the GAB2 gene with the risk of Alzheimer disease in the chinese population.

Purpose: To assess genetic variations of GAB2 as a risk factor for developing Alzheimer disease (AD).

Design And Methods: A case-control study (n=310; age>50 y) was conducted to determine the prevalence of 5 single nucleotide polymorphisms (SNPs) of GAB2 (rs2373115, rs1385600, rs4945261, rs7101429, and rs7115850) in patients with AD in Chinese population of mainland China, and was investigated whether these polymorphisms are risk factors for AD.

Results: Our results supported a possible implication of 3 tested SNPs of GAB2 (rs4945261, rs7101429, and rs7115850) in AD in the ethnic Chinese Han, of which the maximal significance of association was at SNP rs7101429 C allele (P=4.

Transthyretin-related hereditary amyloidosis in a Chinese family with TTR Y114C mutation.

Background: Transthyretin-related hereditary amyloidosis is an autosomal dominant inherited disease caused by mutations in the transthyretin (TTR) gene. Corresponding to the various transthyretin gene mutations and a wide range of geographical distribution, transthyretin-related hereditary amyloidosis presents diverse characteristics in genotype-phenotype correlation.

Objective/method: Here, we identify the clinical characteristics of a Chinese family affected by transthyretin-related hereditary amyloidosis with TTR Tyr114Cys mutation.

A single nucleotide polymorphism in LRP2 is associated with susceptibility to Alzheimer's disease in the Chinese population.

Background: LRP2 (also called megalin) plays a potential key role in the pathogenesis of Alzheimer's disease (AD). Recently, one genome-wide association study has revealed that the rs3755166 (G/A) polymorphism located in the LRP2 promoter is associated with development of AD in Caucasians, while there are no studies on the association LRP2 of with AD risk in Asians.

Methods: To evaluate the relationship between the rs3755166 polymorphism of the LRP2 gene and AD in the ethnic Chinese Han, we conducted a case-control study (n=361, age>50) to determine the prevalence of one common single-nucleotide polymorphism (SNP) of LRP2 (rs3755166) in patients with AD in Chinese population of Mainland China, and clarified whether this polymorphism is a risk factor for AD.

CALHM1 P86L polymorphism is a risk factor for Alzheimer's disease in the Chinese population.

We conducted a case-control study to determine the prevalence of the CALHM1 P86L polymorphism (rs2986017) in patients with Alzheimer's disease (AD) in the Chinese population of mainland China, and also to clarify whether this polymorphism is a risk factor for AD. Fourteen heterozygous P86L carriers were identified among 198 AD patients. One control subject was also found to be a P86L heterozygous carrier.

The metric properties of Zarit caregiver burden scale: validation study of a Chinese version.

Purpose: To evaluate the Chinese version of the Zarit Burden Interview (ZBI) as an instrument for measuring strain in Chinese caregivers of elderly people with dementia.

Design And Methods: The objective of the present study was to carry out a metric analysis of a Chinese version of ZBI using a cross-sectional study. Patients and their caregivers completed a variety of questionnaires, including the Mini-Mental State Examination (MMSE), the Neuropsychiatric Inventory (NPI), the Geriatric Depression Scale (GDS), and the Hamilton Anxiety Scale (HAMA).

Economic impact of dementia in developing countries: an evaluation of Alzheimer-type dementia in Shanghai, China.

The main objective of this study was to assess the economic cost of Alzheimer's disease (AD) in Shanghai, China, as a pilot study for future evaluations. Sixty-seven patients with AD were interviewed, and the information of the AD-related cost and resources used was collected from October 2005 to September 2006. By retrospective analysis, annual costs were calculated and expressed in Chinese renminbi (RMB).