Catecholaminergic Polymorphic Ventricular Tachycardia in Chinese Children

Free Paper Session: Paediatric Cardiology IIpublished_or_final_versio

Clinical and genetic profile of catecholaminergic polymorphic ventricular tachycardia in Hong Kong Chinese children

published_or_final_versio

Boosting alternating decision trees modeling of disease trait information

We applied the alternating decision trees (ADTrees) method to the last 3 replicates from the Aipotu, Danacca, Karangar, and NYC populations in the Problem 2 simulated Genetic Analysis Workshop dataset. Using information from the 12 binary phenotypes and sex as input and Kofendrerd Personality Disorder disease status as the outcome of ADTrees-based classifiers, we obtained a new quantitative trait based on average prediction scores, which was then used for genome-wide quantitative trait linkage (QTL) analysis. ADTrees are machine learning methods that combine boosting and decision trees algorithms to generate smaller and easier-to-interpret classification rules. In this application, we compared four modeling strategies from the combinations of two boosting iterations (log or exponential loss functions) coupled with two choices of tree generation types (a full alternating decision tree or a classic boosting decision tree). These four different strategies were applied to the founders in each population to construct four classifiers, which were then applied to each study participant. To compute average prediction score for each subject with a specific trait profile, such a process was repeated with 10 runs of 10-fold cross validation, and standardized prediction scores obtained from the 10 runs were averaged and used in subsequent expectation-maximization Haseman-Elston QTL analyses (implemented in GENEHUNTER) with the approximate 900 SNPs in Hardy-Weinberg equilibrium provided for each population. Our QTL analyses on the basis of four models (a full alternating decision tree and a classic boosting decision tree paired with either log or exponential loss function) detected evidence for linkage (Z ≥ 1.96, p < 0.01) on chromosomes 1, 3, 5, and 9. Moreover, using average iteration and abundance scores for the 12 phenotypes and sex as their relevancy measurements, we found all relevant phenotypes for all four populations except phenotype b for the Karangar population, with suggested subgroup structure consistent with latent traits used in the model. In conclusion, our findings suggest that the ADTrees method may offer a more accurate representation of the disease status that allows for better detection of linkage evidence

Dynamic response of a quantum wire structure

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The Associations of Income, Education and Income Inequality and Subjective Well-Being among Elderly in Hong Kong-A Multilevel Analysis

Background: Higher income and education and lower income inequality in a neighbourhood have been shown to be related to better mental health outcome in developed countries. However, it is not clear whether these factors would affect the subjective well-being of the elderly, especially in a setting with recent rapid economic development. Methods: This study was conducted in 80 community centres with a total of 7552 community-dwelling elderly (mean age 75.9 years (SD = 7.79), 79% female) in Hong Kong. Income at individual level was measured as perceived disposable income. Education level was also collected. At district level, income was measured by district median household income and education was measured as the proportion of the population with no formal schooling. Income inequality was quantified using Gini coefficients. Low subjective well-being was defined as any one or a combination of the following: not satisfied with life, no meaning of life and being unhappy (Likert scale &le; 2). Multilevel logistic regression was used to assess the association of income, education and income inequality and low subjective well-being. Results: We found that 15.3% (95% confidence interval (CI): 14.5 to 16.1) of the elderly have low subjective well-being. Compared with elderly who reported a very adequate disposable income, those who reported a very inadequate disposable income are at increased risk of low subjective well-being (OR=5.08, 95%CI: 2.44 to 10.59). Compared with elderly with tertiary education, those with no formal schooling were at higher risk (OR=1.60, 95%CI 1.22 to 2.09). Income inequality was not related to subjective well-being. Conclusions: Elderly with inadequate disposable income and lower education level are more likely to suffer from low subjective well-being. At the neighbourhood level, income inequality was not related to subjective well-being. However, the relationships between neighbourhood income and education level and individuals&rsquo; subjective well-being are not clear

What a difference a term makes:the effect of educational attainment on marital outcomes in the UK

Abstract In the past, students in England and Wales born within the first 5 monthsof the academic year could leave school one term earlier than those born later inthe year. Focusing on women, those who were required to stay on an extra termmore frequently hold some academic qualification. Using having been required tostay on as an exogenous factor affecting academic attainment, we find that holding alow-level academic qualification has no effect on the probability of being currentlymarried for women aged 25 or above, but increases the probability of the husbandholding some academic qualification and being economically active.33 Halama

Dynamic response of a double barrier system : the effect of contacts

Author name used in this publication: W. K. ChowVersion of RecordPublishe

Cytokinesis in bloodstream stage Trypanosoma brucei requires a family of katanins and spastin

Microtubule severing enzymes regulate microtubule dynamics in a wide range of organisms and are implicated in important cell cycle processes such as mitotic spindle assembly and disassembly, chromosome movement and cytokinesis. Here we explore the function of several microtubule severing enzyme homologues, the katanins (KAT80, KAT60a, KAT60b and KAT60c), spastin (SPA) and fidgetin (FID) in the bloodstream stage of the African trypanosome parasite, Trypanosoma brucei. The trypanosome cytoskeleton is microtubule based and remains assembled throughout the cell cycle, necessitating its remodelling during cytokinesis. Using RNA interference to deplete individual proteins, we show that the trypanosome katanin and spastin homologues are non-redundant and essential for bloodstream form proliferation. Further, cell cycle analysis revealed that these proteins play essential but discrete roles in cytokinesis. The KAT60 proteins each appear to be important during the early stages of cytokinesis, while downregulation of KAT80 specifically inhibited furrow ingression and SPA depletion prevented completion of abscission. In contrast, RNA interference of FID did not result in any discernible effects. We propose that the stable microtubule cytoskeleton of T. brucei necessitates the coordinated action of a family of katanins and spastin to bring about the cytoskeletal remodelling necessary to complete cell divisio

Biohydrogenation of 22:6n-3 by Butyrivibrio proteoclasticus P18

Background: Rumen microbes metabolize 22:6n-3. However, pathways of 22:6n-3 biohydrogenation and ruminal microbes involved in this process are not known. In this study, we examine the ability of the well-known rumen biohydrogenating bacteria, Butyrivibrio fibrisolvens D1 and Butyrivibrio proteoclasticus P18, to hydrogenate 22:6n-3. Results: Butyrivibrio fibrisolvens D1 failed to hydrogenate 22:6n-3 (0.5 to 32 mu g/mL) in growth medium containing autoclaved ruminal fluid that either had or had not been centrifuged. Growth of B. fibrisolvens was delayed at the higher 22:6n-3 concentrations; however, total volatile fatty acid production was not affected. Butyrivibrio proteoclasticus P18 hydrogenated 22:6n-3 in growth medium containing autoclaved ruminal fluid that either had or had not been centrifuged. Biohydrogenation only started when volatile fatty acid production or growth of B. proteoclasticus P18 had been initiated, which might suggest that growth or metabolic activity is a prerequisite for the metabolism of 22:6n-3. The amount of 22:6n-3 hydrogenated was quantitatively recovered in several intermediate products eluting on the gas chromatogram between 22:6n-3 and 22:0. Formation of neither 22:0 nor 22:6 conjugated fatty acids was observed during 22:6n-3 metabolism. Extensive metabolism was observed at lower initial concentrations of 22:6n-3 (5, 10 and 20 mu g/mL) whereas increasing concentrations of 22:6n-3 (40 and 80 mu g/mL) inhibited its metabolism. Stearic acid formation (18:0) from 18:2n-6 by B. proteoclasticus P18 was retarded, but not completely inhibited, in the presence of 22:6n-3 and this effect was dependent on 22:6n-3 concentration. Conclusions: For the first time, our study identified ruminal bacteria with the ability to hydrogenate 22:6n-3. The gradual appearance of intermediates indicates that biohydrogenation of 22:6n-3 by B. proteoclasticus P18 occurs by pathways of isomerization and hydrogenation resulting in a variety of unsaturated 22 carbon fatty acids. During the simultaneous presence of 18:2n-6 and 22:6n-3, B. proteoclasticus P18 initiated 22:6n-3 metabolism before converting 18:1 isomers into 18:0