PAX6 Haplotypes Are Associated with High Myopia in Han Chinese

Author name used in this publication: Maurice K. H. Yap2010-2011 > Academic research: refereed > Publication in refereed journalpublished_fina

Meta-analysis Followed by Replication Identifies Loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as Associated with Systemic Lupus Erythematosus in Asians

Systemic lupus erythematosus (SLE) is a prototype autoimmune disease with a strong genetic involvement and ethnic differences. Susceptibility genes identified so far only explain a small portion of the genetic heritability of SLE, suggesting that many more loci are yet to be uncovered for this disease. In this study, we performed a meta-analysis of genome-wide association studies on SLE in Chinese Han populations and followed up the findings by replication in four additional Asian cohorts with a total of 5,365 cases and 10,054 corresponding controls. We identified genetic variants in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with the disease. These findings point to potential roles of cell-cycle regulation, autophagy, and DNA demethylation in SLE pathogenesis. For the region involving TET3 and that involving CDKN1B, multiple independent SNPs were identified, highlighting a phenomenon that might partially explain the missing heritability of complex diseases

The N-Terminal Region of the PA Subunit of the RNA Polymerase of Influenza A/HongKong/156/97 (H5N1) Influences Promoter Binding

BACKGROUND: The RNA polymerase of influenza virus is a heterotrimeric complex of PB1, PB2 and PA subunits which cooperate in the transcription and replication of the viral genome. Previous research has shown that the N-terminal region of the PA subunit of influenza A/WSN/33 (H1N1) virus is involved in promoter binding. METHODOLOGY/PRINCIPAL FINDINGS: Here we extend our studies of the influenza RNA polymerase to that of influenza strains A/HongKong/156/97 (H5N1) and A/Vietnam/1194/04 (H5N1). Both H5N1 strains, originally isolated from patients in 1997 and 2004, showed significantly higher polymerase activity compared with two classical human strains, A/WSN/33 (H1N1) and A/NT/60/68 (H3N2) in vitro. This increased polymerase activity correlated with enhanced promoter binding. The N-terminal region of the PA subunit was the major determinant of this enhanced promoter activity. CONCLUSIONS/SIGNIFICANCE: Overall we suggest that the N-terminal region of the PA subunit of two recent H5N1 strains can influence promoter binding and we speculate this may be a factor in their virulence

Phenomic analysis of chronic granulomatous disease reveals more severe integumentary infections in X-Linked compared with autosomal recessive chronic granulomatous disease

BACKGROUND : Chronic granulomatous disease (CGD) is an inborn error of immunity (IEI), characterised by recurrent bacterial and fungal infections. It is inherited either in an Xlinked (XL) or autosomal recessive (AR) mode. Phenome refers to the entire set of phenotypes expressed, and its study allows us to generate new knowledge of the disease. The objective of the study is to reveal the phenomic differences between XL and AR-CGD by using Human Phenotype Ontology (HPO) terms. METHODS : We collected data on 117 patients with genetically diagnosed CGD from Asia and Africa referred to the Asian Primary Immunodeficiency Network (APID network). Only 90 patients with sufficient clinical information were included for phenomic analysis. We used HPO terms to describe all phenotypes manifested in the patients. RESULTS : XL-CGD patients had a lower age of onset, referral, clinical diagnosis, and genetic diagnosis compared with AR-CGD patients. The integument and central nervous system were more frequently affected in XL-CGD patients. Regarding HPO terms, perianal abscess, cutaneous abscess, and elevated hepatic transaminase were correlated with XL-CGD. A higher percentage of XL-CGD patients presented with BCGitis/BCGosis as their first manifestation. Among our CGD patients, lung was the most frequently infected organ, with gastrointestinal system and skin ranking second and third, respectively. Aspergillus species, Mycobacterium bovis, and Mycobacteirum tuberculosis were the most frequent pathogens to be found. CONCLUSION : Phenomic analysis confirmed that XL-CGD patients have more recurrent and aggressive infections compared with AR-CGD patients. Various phenotypic differences listed out can be used as clinical handles to distinguish XL or AR-CGD based on clinical features.The Society for Relief of Disabled Children and Jeffrey Modell Foundation.https://www.frontiersin.org/journals/immunologydm2022Paediatrics and Child Healt

Students' motivation in studying music: The Hong Kong context

Studying music in schools has not been regarded to be important for Hong Kong students and parents. Similar to many other countries and regions, music is marginalized in the school curriculum. However, facing the 21st century, the Hong Kong government regards arts education to be an important contribution to the creative industries. The motivation of students in learning music thus becomes more critical. This article reports data drawn from an international study that examined students’ motivation to study music as compared to other school subjects across the school grades. A total of 4495 students from 23 primary and 20 secondary schools participated in a survey. Results indicate a significant decline in competence beliefs and values ( p < .001) and a significant increase in task difficulty for music and other school subjects across the school levels. Compared with Chinese, mathematics, visual arts and physical education (PE), music was ranked rather low in terms of competence beliefs and values, and task difficulty. In addition, there is a trend towards many secondary students learning instruments outside schools. Results may be attributed to a range of factors including a utilitarian view of education held by parents and students and the overall business-oriented atmosphere of the society, in that people focus on financial success rather than a holistic human development.15

El autoconcepto de una profesora de música de secundaria y la percepción de los alumnos sobre la efectividad de la enseñanza, en un contexto desfavorecido

Este artículo tiene como objetivo identificar y documentar buenas prácticas de enseñanza musical que promueven la inclusión social, y desarrollar estrategias pedagógicas efectivas que incorporen las perspectivas de los alumnos. Se seleccionó para el estudio a una profesora de música de secundaria de Hong Kong, y se observaron dos clases con alumnos de 12 a 13 años de edad. El proceso de enseñanza fue filmado y revisado. Posteriormente se invitó a la profesora y a un grupo de alumnos a participar en una entrevista semi-estructurada para escuchar sus ideas sobre buenas prácticas en la enseñanza de la música. Los hallazgos revelan que las buenas prácticas observadas fueron atribuidas a cuatro factores referidos a la profesora: 1) su personalidad, 2) su pedagogía, 3) su competencia musical, y 4) su filosofía sobre la enseñanza

Seeds of Harmony: Edutainment Project on Music Creativity

Abstract: This paper reports on the development of “Seeds of Harmony”, an online multi-user edutainment platform on music creativity. This project aimed to provide an immersive, interactive and inspirational virtual environment where user can interconnect to creative music

Creative Arts in Education and CulturePerspectives from Greater China /

XII, 251 p. 313 illus.online resource

sj-docx-1-ijm-10.1177_02557614231170285 – Supplemental material for Music majors’ self-regulated learning (SRL) of music practice in China: Two case studies based on the SRL microanalysis

Supplemental material, sj-docx-1-ijm-10.1177_02557614231170285 for Music majors’ self-regulated learning (SRL) of music practice in China: Two case studies based on the SRL microanalysis by Chunxiao Zhang and Bo-Wah Leung in International Journal of Music Education</p