Regions of homozygosity in three Southeast Asian populations

The genomes of outbred populations were first shown in 2006 to contain regions of homozygosity (ROHs) of several megabases. Further studies have also investigated the characteristics of ROHs in healthy individuals in various populations but there are no studies on Singapore populations to date. This study aims to identify and investigate the characteristics of ROHs in three Singapore populations. A total of 268 samples (96 Chinese, 89 Malays and 83 Indians) are genotyped on Illumina Human 1 M Beadchip and Affymetrix Genome-Wide Human SNP Array 6.0. We use the PennCNV algorithm to detect ROHs. We report an abundance of ROHs (≥500 kb), with an average of more than one hundred regions per individual. On average, the Indian population has the lowest number of ROHs and smallest total length of ROHs per individual compared with the Chinese and Malay populations. We further investigate the relationship between the occurrence of ROHs and haplotype frequency, regional linkage disequilibrium (LD) and positive selection. Based on the results of this data set, we find that the frequency of occurrence of ROHs is positively associated with haplotype frequency and regional LD. The majority of regions detected for recent positive selection and regions with differential LD between populations overlap with the ROH loci. When we consider both the location of the ROHs and the allelic form of the ROHs, we are able to separate the populations by principal component analysis, demonstrating that ROHs contain information on population structure and the demographic history of a population.     

A Genome‐Wide Assessment of Variability in Human Serum Metabolism

The study of the genetic regulation of metabolism in human serum samples can contribute to a better understanding of the intermediate biological steps that lead from polymorphism to disease. Here, we conducted a genome‐wide association study (GWAS) to discover metabolic quantitative trait loci (mQTLs) utilizing samples from a study of prostate cancer in Swedish men, consisting of 402 individuals (214 cases and 188 controls) in a discovery set and 489 case‐only samples in a replication set. A global nontargeted metabolite profiling approach was utilized resulting in the detection of 6,138 molecular features followed by targeted identification of associated metabolites. Seven replicating loci were identified (PYROXD2, FADS1, PON1, CYP4F2, UGT1A8, ACADL, and LIPC) with associated sequence variants contributing significantly to trait variance for one or more metabolites (P = 10^?13–10^?91). Regional mQTL enrichment analyses implicated two loci that included FADS1 and a novel locus near PDGFC. Biological pathway analysis implicated ACADM, ACADS, ACAD8, ACAD10, ACAD11, and ACOXL, reflecting significant enrichment of genes with acyl‐CoA dehydrogenase activity. mQTL SNPs and mQTL‐harboring genes were over‐represented across GWASs conducted to date, suggesting that these data may have utility in tracing the molecular basis of some complex disease associations.     

无锡市郊区慢病患病率及主要危险因素现况分析

本文对无锡市郊区慢性非传染性疾病（简称慢病）的患病率及主要危险因素现状进行了调查，结果表明：郊区３５周岁以上人群中高血压、冠心病、脑卒中、糖尿病、主要恶件肿癌合计患病率已超过１／３，达３６．８７％，以高血压患病率最高，达２４．６２％。调查结果还显示出不同慢病病种在性别、年龄、文化程度、职业中的差异。对主要危险因素的调查分析显示：ＢＭＩ和ＷＨＲ超标率较高，分别为１０％和５０％左右；男怀常吸烟率６２．２９％，常饮酒３４．１９％；人群血压平均水平超过１９９１年全国调查水平。本次调查基本摸清了无锡市郊区慢病患病及其危险因素流行状况，为开展慢病监测和干预提供了基础资料。     

结核专科急诊抢救病例226例临床分析

目的 了解结核专科医院急诊抢救病例的临床特点,提供培训依据。方法 选取我院2004年1月-2005年12月急诊抢救室收治的急危重患者226例进行回顾性分析。结果 226例患者中男168例,女58例;年龄1—90岁,其中≤20岁18例,≥60岁85例。抢救病因为：循环系统方面50例;呼吸系统方面133例（其中大咯血34例,张力性气胸40例等）;中枢神经系统疾病12例;中毒及其他系统疾病31例。基础病变为结核病的162例。结论结核急诊抢救病例临床特点为：1．病例分布各个年龄组,以中老年患者多见;2．病因以结核急症多见占71．7％,另涉及循环、呼吸、中枢神经等多个系统。因此,结核专科急诊要提高应急救治能力,要向全科方面发展。     

Right ventricular dysfunction and pulmonary hypertension in COVID-19: a meta-analysis of prevalence and its association with clinical outcome

IntroductionRapid spread of COVID-19 has caused detrimental effects globally. Involvement of the ACE2 receptor has identified COVID-19 as a multi-organ disease. Preliminary studies have provided evidence that cardiac involvement, including right ventricular dysfunction (RVD) and pulmonary hypertension (PH), were found in COVID-19 cases, even in the non-advanced stage. This meta-analysis aims to analyze the prevalence of RVD and PH, and their association with COVID-19 clinical outcome.Material and methodsA systematic data search was conducted through PubMed, medRxiv, ProQuest, Science Direct, and Scopus databases using constructed keywords based on MeSH terms. Any outcomes regarding mortality, severity, ICU admission, and mechanical ventilation usage were analyzed using RevMan v.5.4 and Stata v.16.ResultsA total of 16 eligible studies (1,728 patients) were included. Pooled prevalence of RVD in COVID-19 was 19% (95% CI: 13–25%), and PH was 22% (95% CI: 14–31%). RVD was associated with increased mortality (OR = 2.98 (95% CI: 1.50–5.89), p = 0.002), severity (OR = 3.61 (95% CI: 2.05–6.35), p < 0.001), ICU admission (OR = 1.70 (95% CI: 1.12–2.56), p = 0.01), and mechanical ventilation (MV) usage (OR = 1.60 (95% CI: 1.14–2.25), p = 0.007). PH was also associated with increased mortality (OR = 5.42 (95% CI: 2.66–11.060, p < 0.001), severity (OR = 5.74 (95% CI: 2.28–14.49), p < 0.001), and ICU admission (OR = 12.83 (95% CI: 3.55–46.41), p < 0.001).ConclusionsRVD and PH were prevalent in COVID-19 and associated with mortality, severity, ICU admission, and MV usage in COVID-19 patients. Bedside echocardiography examination could be considered as a novel risk stratification tool in COVID-19.     

Genetic variants at 10q23.33 are associated with plasma lipid levels in a Chinese population

Plasma lipid abnormalities are implicated in the pathogenic process of type 2 diabetes. The IDE-KIFII-HHEX gene cluster on chromosome 10q23.33 has been identified as a susceptibility locus for type 2 diabetes. We hy- pothesized that genetic variants at 10q23.33 may be associated with plasma lipid concentrations. Seven tagging single nucleotide polymorphisms （SNPs： rs7923837, rs2488075, rs947591, rs11187146, rs5015480, rs4646957 and rs1111875） at 10q23.33 were genotyped in 3,281 subjects from a Han Chinese population, using the Taq- Man OpenArray and Sequenom MassARRAY platforms. Multiple linear regression analyses showed that SNP rs7923837 in the 3＂-flanking region of HHEX was significantly associated with triglyceride levels （P = 0.019, 0.031 mmol/L average decrease per minor G allele） and that rs2488075 and rs947591 in the downstream region of HHEX were significantly associated with total cholesterol levels （P = 0.041, 0.058 mmol/L average decrease per minor C allele and P = 0.018, 0.063 mmol/L average decrease per minor A allele, respectively）. However, the other four SNPs （rs11187146, rs5015480, rs4646957 and rs1111875） were not significantly associated with any plasma lipid concentrations in this Chinese population. Our data suggest that genetic variants in the IDE-KIF11- HHEX gene cluster at 10q23.33 may partially explain the variation of plasma lipid levels in the Hart Chinese pop- ulation. Further studies are required to confirm these findings in other populations.     

Perceptions of students,lecturers and staffs on establishing a smoke-free campus

Objective

The aim of this study was to identify the perception of students, lecturers and staffs on smoke-free campus policy.

Influence of physical assessment of different light-curing units on irradiance and composite microhardness top/bottom ratio

The aim of this study was to evaluate the influence of the physical assessment of different light-curing units from 55 dental offices on the irradiance and composite microhardness top/bottom ratio, and the influence of the radiometers for LED or QTH light sources on irradiance measurement. The irradiance of each light-curing unit was evaluated with two radiometers, either for LED or QTH light. A questionnaire regarding the type of source (LED or QTH), time of use, date of last maintenance and light-curing performance assessment applied. The physical assessments were evaluated regarding damage or debris on the light tip. For each light-curing unit, three composite specimens were made (diameter = 7 mm; thickness = 2 mm) with polymerizing time of 20 s, in order to perform the microhardness (Knoop) test. Data were analyzed by Kruskal–Wallis and Dunn test (α = 0.01). There was wide variation in irradiance (0–1000 mW/cm²). Approximately 50 % of the light-curing units presented radiation lower than 300 mW/cm²; 10 % of light-curing units, especially those with LED source, presented values higher than 800 mW/cm², and 43 % of light-curing units worked with adequate irradiance between 301 and 800 mW/cm². In almost 60 % of cases, no maintenance of light-curing units was performed in a period of 3 to 10 years. The age of the light-curing units and the use of inadequate tips interfered negatively in irradiance. The data emphasize the importance of periodic maintenance of light-polymerizing, light-curing units.