Sibling recurrence risk ratio analysis of the metabolic syndrome and its components over time

BACKGROUND: The purpose of this study was to estimate both cross-sectional sibling recurrence risk ratio (λ(s)) and lifetime λ(s )for the metabolic syndrome and its individual components over time among sibships in the prospectively followed-up cohorts provided by the Genetic Analysis Workshop 13. Five measures included in the operational criteria of the metabolic syndrome by the Adult Treatment Panel III were examined. A method for estimating sibling recurrence risk with correction for complete ascertainment was used to estimate the numerator, and the prevalence in the whole cohort was used as the denominator of λ(s). RESULTS: Considerable variability in the λ(s )was found in terms of different time-points for the cross-sectional definition, the times of fulfilling the criterion for lifetime definition, and different components. Obesity and hyperglycemia had the highest cross-sectional λ(s )of the five components. Both components also had the largest slopes in the linear trend of the lifetime λ(s). However, the magnitudes of the lifetime λ(s )were similar to that of the mean cross-sectional λ(s), which were <2. The results of nonparametric linkage analysis showed only suggestive evidence of linkage between one marker and lifetime diagnosis of low high-density lipoprotein cholesterol and metabolic syndrome, respectively. CONCLUSION: The λ(s )of the metabolic syndrome and its components varies substantially across time, and the λ(s )of lifetime diagnosis was not necessarily larger than that of a cross-sectional diagnosis. The magnitude of λ(s )does not predict well the maximum LOD score of linkage analysis

The Arginine Methyltransferase Carm1 is Necessary for Heart Development

To discover genes implicated in human congenital disorders, we performed ENU mutagenesis in the mouse and screened for mutations affecting embryonic development. In this work we report defects of heart development in mice homozygous for a mutation of Coactivator-associated Arginine Methyltransferase 1 (Carm1). While Carm1 has been extensively studied, it has never been previously associated with a role in heart development. Phenotype analysis combining histology and micro-computed tomography (micro-CT) imaging shows a range of cardiac defects. Most notably, many affected mid-gestation embryos appear to have cardiac rupture and hemorrhaging in the thorax. Mice that survive to late gestation show a variety of cardiac defects, including Ventricular Septal Defects (VSDs), Double Outlet Right Ventricle (DORV), and Persistent Truncus Arteriosus (PTA). Transcriptome analyses of the mutant embryos by mRNA-seq reveal the perturbation of several genes involved in cardiac morphogenesis and muscle development and function. In addition, we observe the mis-localization of cardiac neural crest cells at E12.5 in the outflow tract. The cardiac phenotype of Carm1 mutant embryos is similar to that of Pax3 null mutants, and PAX3 is a putative target of CARM1. However, our analysis does not support the hypothesis that developmental defects in Carm1 mutant embryos are primarily due to a functional defect of PAX3

Mixed Infections of Helicobacter pylori

Background. Persistent Helicobacter pylori infection may induce several upper gastrointestinal diseases. Two major virulence factors of H. pylori, vacuolating cytotoxin A (VacA) and cytotoxin-associated gene A (CagA), are thought to be associated with the severity of disease progression. The distribution of vacA and cag-pathogenicity island (cag-PAI) alleles varies in H. pylori isolated from patients in different geographic regions. Aim. To assess the association between mixed infection of H. pylori clinical isolates from Taiwanese patients and the severity of gastrointestinal diseases. Methods. A total of 70 patients were enrolled in this study. Six distinct and well-separated colonies were isolated from each patient and 420 colonies were analyzed to determine the genotypes of virulence genes. Results. The prevalence of mixed infections of all H. pylori-infected patients was 28.6% (20/70). The rate of mixed infections in patients with duodenal ulcer (47.6%) was much higher than that with other gastrointestinal diseases (P<0.05). Conclusions. H. pylori mixed infections show high genetic diversity that may enhance bacterial adaptation to the hostile environment of the stomach and contribute to disease development

Large expert-curated database for benchmarking document similarity detection in biomedical literature search

Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of a large offline gold-standard benchmark of relevant documents that cover a variety of research fields such that newly developed literature search techniques can be compared, improved and translated into practice. To overcome this bottleneck, we have established the RElevant LIterature SearcH consortium consisting of more than 1500 scientists from 84 countries, who have collectively annotated the relevance of over 180 000 PubMed-listed articles with regard to their respective seed (input) article/s. The majority of annotations were contributed by highly experienced, original authors of the seed articles. The collected data cover 76% of all unique PubMed Medical Subject Headings descriptors. No systematic biases were observed across different experience levels, research fields or time spent on annotations. More importantly, annotations of the same document pairs contributed by different scientists were highly concordant. We further show that the three representative baseline methods used to generate recommended articles for evaluation (Okapi Best Matching 25, Term Frequency-Inverse Document Frequency and PubMed Related Articles) had similar overall performances. Additionally, we found that these methods each tend to produce distinct collections of recommended articles, suggesting that a hybrid method may be required to completely capture all relevant articles. The established database server located at https://relishdb.ict.griffith.edu.au is freely available for the downloading of annotation data and the blind testing of new methods. We expect that this benchmark will be useful for stimulating the development of new powerful techniques for title and title/abstract-based search engines for relevant articles in biomedical research.Peer reviewe

Well-Being and Support Systems of Taiwanese Mothers of Young Children with Developmental Disabilities

This study investigated the influences of children's adaptive skills, problem behaviors, and parent support systems (informal support and formal professional support) on maternal well-being (health and stress) in Taiwanese mothers of young children with developmental disabilities. The study examined the moderating effects of formal support and informal support on the relationship between child characteristics and maternal well-being. The theoretical framework of this study is based on the Double ABCX model of Family Adjustments and Adaptation Response (FAAR) (McCubbin &amp; Patterson, 1982, 1983). An ABX model based on the Double ABCX model was used in this study for investigating the relationships among child characteristics, support systems, and maternal well-being in Taiwan. One hundred and twenty mothers of young children with developmental disabilities between 3 and 5 years of age participated in this study. Children's adaptive skills and problem behaviors were measured using the Vineland Adaptive Behavior Scales and the Child Behavior Checklist. The Family Support Scale was used to collect information about mothers' perceived helpfulness of two types of support. The Parenting Stress Index was used to measure mothers' stress. The 36- item Short Form Health Survey was chosen to assess maternal health. Regressions and general linear models (GLM) were tested to examine the moderating effects of supports on the associations between child characteristics and maternal well-being. Consistent with the literature in U.S. and other countries, the child-related parenting stress was significantly associated with child problem behavior. Results suggest that the perceived informal support is a significant moderator for the impact of child problem behavior on parenting stress. Mothers of children with more severe problem behaviors reported lower stress when they perceived better informal support. Different effects of formal and informal supports were discussed. It is important to consider both child characteristics and mothers' concerns for providing effective early intervention services and appropriate supports to families of children with developmental disabilities

腦中風病人復健入院時平衡能力與出院時日常生活功能之關聯

目的：早期預測中風病人出院時之ADL功能有助於復健目標與治療計畫的訂定。本研 究目的在探討中風病人復健入院時坐姿平衡與出院時日常生活功能之相關性，並比較 入院時坐姿平衡、整體平衡能力等變 項對於出院時日常生活功能之預測能力。材料 與方法：38位中風病人 於復健入院時接受整體平衡(Berg Balance Scale)、坐姿平 衡(Fugl-Meyer Motor Assessment中之坐姿平衡項目)及日常生活功能(Barthel Index)評 量，出院時再接受日常生活功能評量。所得資料先以Pearson r檢驗入 院 時坐姿平衡、整體平衡、及年齡等人口學變項與出院時日常生活功 能之關聯程度， 再以逐步迴歸分析檢驗上述變項與出院時日常生活功 能之關聯程度。結果：入院時 坐姿平衡能力不是出院時日常生活功能 的良好預測因子，整體平衡能力與年齡則是 為較佳的預測因子(p = 0.001)。結論：綜合整體平衡能力與年齡二變項，可達到預 測病人出院 時之日常生活功能(R2 = 0.58)

An Empirical Study for Senior Citizens Using a Customized Medical Informatics System for Dementia Diagnosis and Analysis

The treatment of dementia-related diseases is a global issue. Taiwan is facing a more serious dementia problem due to the combination of an aging society and a declining birthrate. A great portion of healthcare resources has been utilized for dementia among the aged population. In order to understand how dementia develops in rural areas in Taiwan, a cooperated effort between the university and a regional hospital was formed to develop a customized medical information system to collect and track dementia patients. This efficient customized system compiled information on 768 patients with dementia-released diseases. Big data technology and data mining approaches were then applied to analyze the relevant information. Using statistical analysis, we then extracted useful medical findings from the large amounts of collected medical data. Some of the findings indicate that the patients’ education level and care practices have a major effect on the dementia severity in these local senior populations

An Empirical Study for Senior Citizens Using a Customized Medical Informatics System for Dementia Diagnosis and Analysis

The treatment of dementia-related diseases is a global issue. Taiwan is facing a more serious dementia problem due to the combination of an aging society and a declining birthrate. A great portion of healthcare resources has been utilized for dementia among the aged population. In order to understand how dementia develops in rural areas in Taiwan, a cooperated effort between the university and a regional hospital was formed to develop a customized medical information system to collect and track dementia patients. This efficient customized system compiled information on 768 patients with dementia-released diseases. Big data technology and data mining approaches were then applied to analyze the relevant information. Using statistical analysis, we then extracted useful medical findings from the large amounts of collected medical data. Some of the findings indicate that the patients&rsquo; education level and care practices have a major effect on the dementia severity in these local senior populations

Detecting Triple-Vessel Disease with Cadmium Zinc Telluride-Based Single-Photon Emission Computed Tomography Using the Intensity Signal-to-Noise Ratio between Rest and Stress Studies

The purpose of this study was to investigate if a novel parameter, the stress-to-rest ratio of the signal-to-noise ratio (RSNR) obtained with a cadmium zinc telluride (CZT) SPECT scanner, could be used to distinguish triple-vessel disease (TVD) patients. Methods. One hundred and two patients with suspected coronary artery disease were retrospectively involved. Each subject underwent a Tl-201 SPECT scan and subsequent coronary angiography. Subjects were separated into TVD (n=41) and control (n=61) groups based on coronary angiography results using 50% as the stenosis cutoff. The RSNR was calculated by dividing the stress signal-to-noise ratio (SNR) by the rest SNR. Summed scores were calculated using quantitative perfusion SPECT (QPS) for all subjects. Results. The RSNR in the TVD group was found to be significantly lower than that in the control group (0.83 ± 0.15 and 1.06 ± 0.17, resp.; P<0.01). Receiver-operating characteristic (ROC) analysis showed that RSNR can detect TVD more accurately than the summed difference score with higher sensitivity (85% versus 68%), higher specificity (90% versus 72%), and higher accuracy (88% versus 71%). Conclusion. The RSNR may serve as a useful index to assist the diagnosis of TVD when a fully automatic quantification method is used in CZT-based SPECT studies