Genetic Analysis Workshop II: pedigree analysis of a binary trait without assuming an underlying liability

A model for concordance in a binary measure that does not rely on the assumption of an underlying latent liability dichotomized about a threshold has been demonstrated for twin pairs [Hannah et al, 1983]. It is extended here to pedigrees of arbitrary structure by making an assumption that is, for small incidence rates, almost equivalent to postulating that relative risks are multiplicative. The model is applied to the workshop data to determine the extent to which the known structure of the simulated models can be recovered.     

2018年四川省贫困县区居民健康素养监测结果分析

目的掌握四川省贫困地区居民的健康素养现况及其影响因素,为贫困地区居民健康素养的提升及健康扶贫工作的落实提供科学依据。方法采用分层多阶段、PPS、方便抽样相结合的方法,2018年在四川省88个贫困县区抽取18个县,对非集体居住的15~69岁常住人口进行健康素养问卷调查。采用SPSS 20.0软件进行t检验和单因素ANOVA分析,校验水准α=0.05。结果共调查四川省贫困地区5 797名居民,经过加权调整后,2018年四川省贫困地区居民具备健康素养的比例是1.5%;健康素养得分为(21.76±9.66)分,不同性别(t=4.221,P<0.001)、民族(t=18.900,P<0.001)、年龄组(F=2.952,P=0.012)、文化程度(F=10.941,P<0.001)、职业(F=3.152,P=0.001)、家庭常住人口数(F=3.232,P=0.040)、家庭人均年收入(F=4.581,P=0.003)的居民健康素养得分的差异具有统计学意义;具备基本知识和理念、健康生活方式与行为、健康技能3个维度健康素养的比例分别是9.2%、13.7%和5.8%。结论 2018年四川省贫困地区居民健康素养水平较低,健康素养水平在不同人群特征的居民中表现出差异,应结合健康扶贫相关政策,加大健康教育工作力度,进一步提高贫困地区居民健康知识知晓率,健康技能掌握率和健康行为形成率,并针对健康知识、健康技能的掌握环节进行重点干预。     

家庭社会经济地位对青少年主观幸福感影响的多重中介效应分析

目的:探讨家庭社会经济地位与青少年主观幸福感的关系及领悟社会支持和积极心理资本的中介作用。方法:采用家庭社会经济地位问卷、幸福感指数量表、领悟社会支持量表和积极心理资本问卷调查了932名青少年。结果:(1)家庭社会经济地位、领悟社会支持、积极心理资本和主观幸福感两两之间相关显著;(2)家庭社会经济地位对主观幸福感的直接效应不显著,但领悟社会支持、积极心理资本在家庭社会经济地位与主观幸福感之间的三条中介路径均显著。结论:为提升低家庭社会经济地位青少年主观幸福感,改善其领悟社会支持和积极心理资本水平是可实现的有效路径。     

粤西某市城区寄宿学校中学生不良饮食行为现状与影响因素分析

目的 了解粤西某市城区寄宿的中学生饮食行为现状与影响因素,为探索干预方法提供依据。方法 自编调查问卷,2021年10月对某城区全部有食宿条件的10所中学,用分层抽样法现场调查547名初一至高二学生,对5种饮食行为与相关因素进行描述分析和logistic回归分析。结果 饮食的5种行为不良率从高到低依次为:吃外卖(49.0%)、不吃早餐(31.7%)、喝奶茶(24.3%)、吃夜宵(11.8%)、零食代餐(1.3%);“学生可支配费用少于100元/星期”“学校饭堂饮食口味评价——不满意”两个因素均能促成5种不良饮食行为发生(P<0.05),“饮食重要性感知意识——不重要”因素对“喝奶茶”“吃夜宵”行为影响强度最大(OR=4.386,P=0.019;OR=5.780,P=0.006);女生能促成“吃外卖”(OR=1.586,P=0.015)和“喝奶茶”(OR=1.770,P=0.010),“每星期可支配消费超过200元以上”能促成“吃外卖”和“吃夜宵”(OR=2.346,P=0.001;OR=2.585,P=0.009)。结论 城区寄宿学校中学生不良饮食行为问题突出,不满学校饭堂饮食口味对促发不良饮食行为影响最广,“认为饮食不重要”是促发不良行为产生的最强因素,亟须加强寄宿中学饮食支持条件的管理,加强学生饮食健康教育,控制当前城市寄宿学校中学的学生不健康饮食行为。     

Using aggregated mobile phone location data to compare the realised foodscapes of different socio-economic groups.

The foodscape (the built food environment) is considered one of the driving factors of the higher burden of obesity and chronic disease observed in low socio-economic status (SES) groups. Traditional data collection methods struggle to accurately capture actual access and exposure to the foodscape (realised foodscape). We assess the use of anonymised mobile phone location data (location data) in foodscape studies by applying them to a case study in Perth, Western Australia to test the hypothesis that lower SES groups have poorer realised foodscapes than high SES groups. Kernel density estimation was used to calculate realised foodscapes of different SES groups and home foodscape typologies, which were compared to home foodscapes of the different groups. The location data enabled us to measure realised foodscapes of multiple groups over an extended period and at the city scale. Low SES groups had poor availability of food outlets, including unhealthy outlets, in their home and realised foodscapes and may be more susceptible to a poor home foodscape because of low mobility.     

Relationship between Serum 25(OH)D and Depression: Causal Evidence from a Bi-Directional Mendelian Randomization Study

The relationship between depression and vitamin D deficiency is complex, with evidence mostly from studies affected by confounding and reverse causality. We examined the causality and direction of the relationship between 25-hydroxyvitamin D (25(OH)D) and depression in bi-directional Mendelian randomization (MR) analyses using information from up to 307,618 white British participants from the UK Biobank and summary results from the SUNLIGHT (n = 79,366) and Psychiatric Genomics consortia (PGC 113,154 cases and 218,523 controls). In observational analysis, the odds of depression decreased with higher 25(OH)D concentrations (adjusted odds ratio (OR) per 50% increase 0.95, 95%CI 0.94–0.96). In MR inverse variance weighted (IVW) using the UK Biobank, there was no association between genetically determined serum 25(OH)D and depression (OR per 50% higher 0.97, 95%CI 0.90–1.05) with consistent null association across all MR approaches and in data from PGC consortium. In contrast, genetic liability to depression was associated with lower 25(OH)D concentrations (MR IVW −3.26%, −4.94%–−1.55%), with the estimates remaining generally consistent after meta-analysing with the consortia. In conclusion, we found genetic evidence for a causal effect of depression on lower 25(OH)D concentrations, however we could not confirm a beneficial effect of nutritional vitamin D status on depression risk.     

Risks Associated with the Use of Garcinia as a Nutritional Complement to Lose Weight

Nowadays, obesity is one of the great nutritional problems facing public health. The prevalence of this pathology has increased in a worrying way over recent years, currently reaching epidemic proportions. In this context, nutritional supplements are presented as a therapeutic alternative to which more and more people are turning to. Nutritional supplements to lose weight based on the Garcinia plant, specifically on Garcinia cambogia, are commonly used. The active principle of this plant to which these properties have been attributed, is hydroxycitric acid (HCA). The aim of the present review is to gather reported data concerning the effectiveness of nutritional supplements based on Garcinia extracts on weight loss and their possible negative effects. Contradictory results have been observed regarding the effectiveness of the supplements. While statistically significant weight loss was observed in some studies, no changes were found in others. Regarding safety, although Garcinia supplements have been revealed as safe in the vast majority of the studies carried out in animal models and humans, some cases of hepatotoxicity, serotonin toxicity and mania have been reported. In conclusion, the results suggest that Garcinia-based supplements could be effective in short-term weight loss, although the data are not conclusive. In addition, the safety of the complement should be further studied.     

Dietary Habits,Selenium, Copper,Zinc and Total Antioxidant Status in Serum in Relation to Cognitive Functions of Patients with Alzheimer’s Disease

Oxidative stress plays a crucial role in the neurodegenerative process and can impair cognitive functions. In the prevention of Alzheimer’s disease (AD), an adequate consumption of dietary antioxidants may be a major factor. The objective of the study was to estimate selenium (Se), copper (Cu), zinc (Zn), and total antioxidant status (TAS) in the serum of patients with AD in relation to their cognitive functions and dietary habits. A total of 110 patients (aged 54–93 years) with early or moderate AD, as well as 60 healthy people (aged 52–83 years) were studied. The severity of the disease was assessed using the mini-mental state examination (MMSE) scale. Food-frequency questionnaires were implemented to collect the dietary data. The concentrations of Se, Cu and Zn in the sera were determined by the atomic absorption spectrometry method. TAS was estimated spectrophotometrically using ready-made kits (Randox). Significantly lower concentrations of Se, Zn and TAS, and higher Cu:Zn ratio in the serum of patients with AD, compared to healthy people, were observed. A low correlation between the MMSE score and TAS in the serum of AD patients and significantly higher MMSE values in patients with TAS above the reference range were also noted. In patients with serum Cu concentration above the norm, significantly lower MMSE values were found. Selected dietary habits such as the frequency of consumption of various food products had a significant impact on the concentration of the assessed parameters in the serum of people with AD.     

A Vicious Cycle of Osteosarcopenia in Inflammatory Bowel Diseases—Aetiology,Clinical Implications and Therapeutic Perspectives

Sarcopenia is a disorder characterized by a loss of muscle mass which leads to the reduction of muscle strength and a decrease in the quality and quantity of muscle. It was previously thought that sarcopenia was specific to ageing. However, sarcopenia may affect patients suffering from chronic diseases throughout their entire lives. A decreased mass of muscle and bone is common among patients with inflammatory bowel disease (IBD). Since sarcopenia and osteoporosis are closely linked, they should be diagnosed as mutual consequences of IBD. Additionally, multidirectional treatment of sarcopenia and osteoporosis including nutrition, physical activity, and pharmacotherapy should include both disorders, referred to as osteosarcopenia.