9 research outputs found

    Territory wide study of patients with dystrophinopathy in Hong Kong

    Get PDF
    Poster PresentationThis journal issues entitled: 18th International Congress of The World Muscle SocietyThis is a first territory wide study in Hong Kong on Chinese patients with dystrophinopathy on their genetic mutation, motor performance, use of steroid, and the interventions they received. This study is participated by all the paediatric departments in the eleven hospitals in Hong Kong. Clinical data was systemically collected ...postprin

    Association analysis in over 329,000 individuals identifies 116 independent variants influencing neuroticism

    Get PDF
    Neuroticism is a relatively stable personality trait characterized by negative emotionality (for example, worry and guilt)1; heritability estimated from twin studies ranges from 30 to 50%2, and SNP-based heritability ranges from 6 to 15%3,4,5,6. Increased neuroticism is associated with poorer mental and physical health7,8, translating to high economic burden9. Genome-wide association studies (GWAS) of neuroticism have identified up to 11 associated genetic loci3,4. Here we report 116 significant independent loci from a GWAS of neuroticism in 329,821 UK Biobank participants; 15 of these loci replicated at P < 0.00045 in an unrelated cohort (N = 122,867). Genetic signals were enriched in neuronal genesis and differentiation pathways, and substantial genetic correlations were found between neuroticism and depressive symptoms (rg = 0.82, standard error (s.e.) = 0.03), major depressive disorder (MDD; rg = 0.69, s.e. = 0.07) and subjective well-being (rg = –0.68, s.e. = 0.03) alongside other mental health traits. These discoveries significantly advance understanding of neuroticism and its association with MDD

    Analysis of genome-wide association data highlights candidates for drug repositioning in psychiatry

    No full text
    Knowledge of psychiatric disease genetics has advanced rapidly during the past decade with the advent of genome-wide association studies (GWAS). However, less progress has been made in harnessing these data to reveal new therapies. Here we propose a framework for drug repositioning by comparing transcriptomes imputed from GWAS data with drug-induced gene expression profiles from the Connectivity Map database and apply this approach to seven psychiatric disorders. We found a number of repositioning candidates, many supported by preclinical or clinical evidence. Repositioning candidates for a number of disorders were also significantly enriched for known psychiatric medications or therapies considered in clinical trials. For example, candidates for schizophrenia were enriched for antipsychotics, while those for bipolar disorder were enriched for both antipsychotics and antidepressants. These findings provide support for the usefulness of GWAS data in guiding drug discovery

    Health-related quality of life in adults with tetralogy of Fallot repair: A systematic review and meta-analysis

    No full text
    Background: With the advancement in diagnostics and clinical management, patients with Tetralogy of Fallot (ToF) are surviving till adulthood. Hence, assessing the impact of ToF repair on health-related quality of life (HRQOL) of these patients is becoming increasingly important. The objective of this paper is to conduct a systematic review and meta-analysis of the HRQOL in patients who have undergone ToF repair.Methods: A systematic search was conducted using PubMed, CINAHL, Medline and Web of Science databases. Studies that compared the HRQOL of adult patients (mean age ≥ 18 years) who had previously undergone ToF repair with healthy controls were included. Analysis was done via Revman V5.3 using a random effects model.Results: The 16 studies (15 using SF-36) included in the meta-analysis, comprised 1818 patients and 50,265 healthy controls. There was a higher proportion of males (59%). The mean ages at surgery and at HRQOL assessment were 5.37 years and 30.3 years, respectively. We found that repaired ToF patients had a statistically significantly lower score in the physical component summary (SMD = - 0.92 CI = - 1.54, - 0.30) and physical functioning (SMD = - 0.27 CI = - 0.50, - 0.03) compared to healthy controls. However, these patients had statistically significantly higher scores in the bodily pain domain (SMD = 0.35 CI = 0.12, 0.58) and social functioning (SMD = 0.23 CI = 0.01, 0.46), while there was no significant difference in other domains.Conclusion: Overall, physical domain of HRQOL was statistically significantly lower in repaired ToF patients compared to healthy controls. However, repaired ToF patients scored significantly higher on bodily pain and Social Functioning. There was additionally no difference in the HRQOL between the two groups in other domains of HRQOL

    Enablers for IoT regarding Wearable Medical Devices to Support Healthy Living: The Five Facets

    No full text
    Wearables, body sensor networks, ambient, and Internet of Things (IoT) technologies are currently fairly popular in health-related researches and practices. Definitely, wearable technologies are a central fragment of the IoT. Moreover, wearables are becoming more ubiquitous, and they have noteworthy functions and benefits for healthy living and aging. In this context, the success of wearable medical devices is important. Nevertheless, the current understanding in this field needs enhancements. Hence, the authors conducted a study to identify enablers for IoT regarding wearable medical devices. Explicitly, the authors mainly aimed to identify enablers and relevant characteristics to attain, sustain, and improve success. Consequently, a questionnaire was deployed, and data were collected from 511 participants who are real and current wearable medical device users. For analysis, an exploratory factor analysis methodology was applied. The results show that there are five enablers (dependability; design; worthiness; privacy, confidentiality, and security; compatibility) with 17 items, explaining 75.318% of the total variance. Based on these, the authors crafted a checklist for stakeholders to appraise the relevant devices. This chapter contributes to the pertinent body of knowledge concerning the enablers for IoT regarding wearable medical devices to support healthy living with extracted results. This contribution advances the relevant understanding and is going to be helpful for researchers in the field and wearable medical devices product developers
    corecore