1,761 research outputs found
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 studentsā 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 studentsā 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 studentsā 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 studentsā 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 āclinical actionabilityā 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 āevidence-basedā on either practice guidelines endorsed by a professional society (nā=ā9, Level 1) or peer-reviewed publications making medical management recommendation (nā=ā10, Level 2). CMA results impact medical management by precipitating referral to a specialist (nā=ā24); diagnostic testing (nā=ā25), surveillance of complications (nā=ā19), interventional procedure (nā=ā7), medication (nā=ā15) or lifestyle modification (nā=ā12).
Conclusion
The application of CMA in children with ID/DD, ASD, and/or MCAs in Hong Kong results in a diagnostic yield of ā¼11% 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 disorderāimplications 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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