MediaWiki and Google Docs as online collaboration tools for group project co-construction

This paper reports and describes the use of MediaWiki and Google Docs as online collaboration tools for co-constructing knowledge in a group project. Undergraduate Information Management students used MediaWiki and Google Docs as collaboration tools for carrying out two separate projects. We assessed and compared students’ perception on the effectiveness of MediaWiki and Google Docs after the completion of the projects. Results indicated positive experiences from using the tools for online collaboration in the group projects for some of the students. More students found MediaWiki an effective knowledge management tool than Google Docs.postprintThe 6th International Conference on Knowledge Management (ICKM 2009), Hong Kong, 3-4 December 2009. In Proceedings of the ICKM, 2009, p. 1-1

Using a social bookmarking tool for group project work online

This research investigated secondary school students’ perceptions of a social bookmarking tool for information organization, search and management. Participants include Form 1 and Form 2 (n=347) students from a Hong Kong secondary school, working on group projects over a four-month period. Students used Delicious to manage information sources for their group projects. Using a mixed-methods approach, a questionnaire and focus-group interviews examined students’ perceptions on the use of Delicious upon completion of group projects. Preliminary findings indicate positive perceptions on the usefulness of Delicious for information organization, search and management. Further analysis examined the usefulness of social bookmarking for students.postprin

Supporting secondary school students' group project works with the wiki

This study examined the use of the Wiki for group projects among secondary school students. Participants included Form 1-2 students (n=329) from a local secondary school who used Google Sites for online co-construction of group projects. Upon completion of group projects, students answered a questionnaire on the pedagogical value of the Wiki. The questionnaire examined five aspects: learning/pedagogy, motivation, group interaction, technology, and knowledge management. Follow-up focus-group interviews were conducted with selected student groups. Preliminary findings showed students’ positive perceptions on the pedagogical value of the Wiki technology, and qualitative analysis of interview data further supported the use of Wikis in secondary schools.postprin

An evaluative study on the effectiveness of a parent-child parallel group model

Objective; To examine the effectiveness of a parent-child parallel group model that attempted to reduce parent-adolescent conflict. Method: A single group research design with pretest, posttest, and follow-up assessments was employed. Results: Results showed that the level of mother-adolescent conflict at posttest was lower than the level at pretest. The findings, based on the target problem rating, indicated that after the group intervention, both the mothers and adolescents perceived that the problems they had identified in the mother-child relationship had become less severe. The findings, based on subjective outcome measures, were also positive. Conclusion: The present study provides some evidence to support the effectiveness of the parallel group intervention for social work practice.preprin

The clinical impact of chromosomal microarray on paediatric care in Hong Kong

Objective To evaluate the clinical impact of chromosomal microarray (CMA) on the management of paediatric patients in Hong Kong. Methods We performed NimbleGen 135k oligonucleotide array on 327 children with intellectual disability (ID)/developmental delay (DD), autism spectrum disorders (ASD), and/or multiple congenital anomalies (MCAs) in a university-affiliated paediatric unit from January 2011 to May 2013. The medical records of patients were reviewed in September 2013, focusing on the pathogenic/likely pathogenic CMA findings and their “clinical actionability” based on established criteria. Results Thirty-seven patients were reported to have pathogenic/likely pathogenic results, while 40 had findings of unknown significance. This gives a detection rate of 11% for clinically significant (pathogenic/likely pathogenic) findings. The significant findings have prompted clinical actions in 28 out of 37 patients (75.7%), while the findings with unknown significance have led to further management recommendation in only 1 patient (p<0.001). Nineteen out of the 28 management recommendations are “evidence-based” on either practice guidelines endorsed by a professional society (n = 9, Level 1) or peer-reviewed publications making medical management recommendation (n = 10, Level 2). CMA results impact medical management by precipitating referral to a specialist (n = 24); diagnostic testing (n = 25), surveillance of complications (n = 19), interventional procedure (n = 7), medication (n = 15) or lifestyle modification (n = 12). Conclusion The application of CMA in children with ID/DD, ASD, and/or MCAs in Hong Kong results in a diagnostic yield of ∼11% for pathogenic/likely pathogenic results. Importantly the yield for clinically actionable results is 8.6%. We advocate using diagnostic yield of clinically actionable results to evaluate CMA as it provides information of both clinical validity and clinical utility. Furthermore, it incorporates evidence-based medicine into the practice of genomic medicine. The same framework can be applied to other genomic testing strategies enabled by next-generation sequencing.published_or_final_versio

De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients

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Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder—implications of a copy number variation involving DPP10

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Homozygous Missense Mutation in ABR Causes Cerebellar Hypoplasia with Early Lethality - A New Condition Identified by Exome Sequencing?

Poster PresentationWe performed whole exome sequencing (WES) in a consanguineous Pakistani family with a recurrent pattern of cerebellar hyposplasia, intra-uterine growth restriction, and various CNS/non-CNS malformations, resulting in early lethality (1 perinatal death and 1 intrauterine death). Karyotype (in the first pregnancy) and oligonucleotide array (in the 2nd affected pregnancy) were normal. Parents declined post-mortem examination. By WES, a novel homozygous missense mutation was identified in the ABR gene (ABR: NM_021962.4:c.G2455T: p.A819S) in both affected pregnancies. Both parents were identified to be heterozygous of the same mutation while the healthy child did not carry any mutation. The mutation is located in a highly conserved region and is predicted to be highly damaging by all the commonly used in silico mutation prediction tools. The protein encoded by ABR gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Previous reports showed that OPHN1, mutations in which cause X-linked mental retardation with cerebellar hypoplasia (OMIM300486), also encodes for a regulator of GTPase-activating protein. Both OPHN1 and ABR are highly expressed in the human brain especially in the cerebellum, and both contain a GTPase-activating domain. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Other studies have demonstrated a regulatory role of Rho GTPase in differentiation of cerebellar neurons, and that ethanolassociated impairment of Rho GTPase might contribute to brain defects in fetal alcohol syndrome. Further functional studies, including zebrafish morpholino studies, are currently ongoing. WES can be helpful in individual families with undiagnosed lethal MCA syndromes to identify potentially responsible autosomal recessive mutations and may lead to a better understanding of the role of various developmental pathways in human embryogenesis.published_or_final_versio

CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis

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