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Biomedical subjects

W M Chan

Publications and source records attributed to W M Chan.

At least 19 recordsLinked to original sources
PubMed2006

A novel genetic study of Chinese families with autosomal recessive retinitis pigmentosa.

Autosomal recessive retinitis pigmentosa (arRP) is the commonest form of RP worldwide. To date 22 loci have been implicated in the pathogenesis of this disease; however none of these loci independently account for a significant proportion of recessive RP. Linkage studies of arRP in consanguineous families have been mainly based on homozygosity mapping, but this strategy cannot be applied in the case of non-consanguineous families. Therefore, we implemented a systematic approach for identifying the disease locus in three non-consanguineous Chinese families with arRP. Initially, linkage analysis using SNPs/microsatellite markers or mutation screening of known arRP genes excluded all loci/genes except RP25 on chromosome 6. Subsequently a whole genome scan for the three families using the 10K GeneChip Mapping Array was performed, in order to identify the possible disease locus. To the best of our knowledge this is the first report on the utilisation of the 10K GeneChip to study linkage in non-consanguineous Chinese arRP. This analysis indicates that the studied families are probably linked to the RP25 locus, a well defined arRP locus in other populations. The identification of another ethnic group linked to RP25 is highly suggestive that this represents a major locus for arRP.

Asian People↗
PubMed2006

A prospective study of stage of change for general health promotion action and health-related lifestyle practices among Chinese adults.

In a previous study we proposed the notion of general health promotion action (GHPA) defined as "a general intention and actual practices to take action aimed to promote health." GHPA is a subjective measure of health-promoting lifestyle which may reflect practices aimed to promote health and practices which are taken for non-health reasons but which nonetheless have health benefits. The present prospective study aimed to examine whether baseline stage of change for GHPA predicted health-related lifestyle practices at 24-month follow-up in a representative community-based cohort of 3129 Hong Kong Chinese adults. Overall, 37% of the subjects remained in the same stage, 43% had progressed to later stages, and 20% had regressed to earlier stages of change at follow-up. Baseline maintainers were the most likely to report desirable lifestyle practices at follow-up. They were significantly more likely to have exercised in the past month, consumed at least 2 portions of fruit a day, consumed at least 3 portions of vegetable a day, consumed at least 5 portions of fruit or vegetable a day, have had no episodes of binge drinking in the past month, and have had a dental examination at least once a year. The association remained significant after adjusting for age, gender, education, income and baseline level of respective lifestyle practices, with significantly increasing trends from precontemplation to maintenance stage. We conclude that the predictive validity of stage of change for GHPA was supported from these longitudinal findings, and further research on how GHPA can guide health promotion strategies is warranted.

Adolescent↗
PubMed2006

A novel missense RP1 mutation in retinitis pigmentosa.

AIMS: More than 20 mutations associated with retinitis pigmentosa (RP) have been identified in the retinitis pigmentosa 1 (RP1) gene, all of them leading to the production of a truncated protein without 50-70% of the C-terminal of the RP1 protein. RP1 was recently found to be a microtubule-associated protein (MAP) and responsible for the organisation of the photoreceptor outer segment. The N-terminal doublecortin (DCX) domain of RP1 is essential for its function. But how the C-terminal of the protein affects its function is still not known. This study aims to get a better understanding of the RP1 gene by mutation screening on RP patients. METHODS: Peripheral blood was taken from 72 RP patients. Together with 101 RP patients and 190 control subjects previously reported, mutation screening was performed by polymerase chain reaction (PCR) and direct sequencing. Statistical analysis was performed using SPSS. RESULTS: Two novel missense sequence changes, D984G and C727W, and one novel variant, 6492T>G, at the 3' untranslated region were found. They were not found in 190 control subjects. D984G causes RP. It creates two possible N-myristoylation sites according to PROSITE. C727W does not segregate with RP in the family. It abolishes an N-myristoylation site. R872H, a previously reported polymorphism, was predominantly present in control subjects (P=0.001). CONCLUSIONS: Our results suggest that disruption of the C-terminal of RP1 may be associated with the development of RP, and the possible involvement of the RP1 polypeptide downstream of its DCX domain in normal RP1 function.

Adult↗
PubMed2006

Prevalence of subclinical infection and transmission of severe acute respiratory syndrome (SARS) in a residential care home for the elderly.

OBJECTIVE: To ascertain the prevalence of subclinical severe acute respiratory syndrome-coronavirus (SARS-CoV) infection and study the transmission of SARS-CoV in a local outbreak at a residential care home for the elderly. DESIGN: Cross-sectional study. SETTING: A residential care home for the elderly in Hong Kong with a local outbreak of SARS. PARTICIPANTS: Residents and staff in the residential care home who had contact with three patients with SARS (residents A and B, and staff C). MAIN OUTCOME MEASURES: Blood samples were tested for total antibodies to SARS-CoV by immunofluorescence antibody test. The transmission of SARS was elucidated based on information from standardised questionnaires, and records of investigation and surveillance by the Department of Health. RESULTS: Among the 90 eligible residents, three died, one moved out, and 19 refused to participate. Of the 32 eligible staff, six refused to participate. None of the remaining 93 participants tested positive for antibody to SARS-CoV. Based on the chronological order, resident A might have transmitted infection to resident B and staff C. Sitting close to the bathroom doorway while resident A took a shower was the only contact of resident B with resident A. The only opportunity for staff C to have contact with body fluids/excreta of resident A was in the handling of rubbish from the resident's room. CONCLUSION: Subclinical SARS-CoV infection was rare in a residential care home for the elderly with an outbreak of SARS. Nonetheless the close working and living conditions for staff and residents in such a home may facilitate transmission of SARS despite vigilant precautionary measures.

Adult↗
PubMed2005

Second eye of patients with unilateral neovascular age-related macular degeneration: Caucasians vs Chinese.

PURPOSE: To investigate the correlation between morphological features of choroidal neovascularisation (CNV) secondary to age-related macular degeneration (AMD) in the first eye and the severity of age-related maculopathy (ARM) in the fellow eyes in two racial groups: Caucasians and Chinese. PARTICIPANTS: A total of 135, fluorescein angiograms of patients with unilateral neovascular AMD and ARM in the fellow eyes were included in the study: 38 Caucasians from King's College Hospital, UK; 45 Caucasians from West Kent Eye Centre, UK; 52 Chinese from Hong Kong Eye Hospital, Hong Kong. MAIN OUTCOME MEASURES: CNV subtype in the affected eye and ARM severity in the second eyes. RESULTS: Although the proportion of CNV subtypes in the three groups were similar, the Chinese cohort showed significantly less ARM severity compared to the Caucasian cohorts (P < 0.05). CONCLUSION: Although drusen and retinal pigmentary changes may be prognostic indicators of CNV, this study suggest that other factors contribute significantly to the pathogenesis of CNV in AMD.

Aged↗
PubMed2005

Gene mutations in retinitis pigmentosa and their clinical implications.

Retinitis pigmentosa (RP) is a group of inherited progressive retinal diseases affecting about 1 in 3500 people worldwide. So far, there is no prevention or cure, with permanent visual loss or even blindness the ultimate consequence usually after midlife. The genetics of RP are complex. It can be sporadic, autosomal dominant, autosomal recessive, or X-linked. Thirty-two genes are known to be associated with RP, sometimes the same gene gets involved in different inheritance traits. Some RP cases have a digenic cause. About 60% RP cases still have no known genetic cause. A large number of mutations cause RP, and they can be deletions, insertions, or substitutions that cause missense mutations or truncations. The RHO, RP1, and RPGR genes contribute the greatest number of known mutations causative of RP. But there is no single mutation that alone accounts for more than 10% of unrelated patients. Genetic testing for RP therefore requires screening for a group of genes. High-throughput and automated sequence detection technologies are essential. Due to the complexity in phenotype and genetics, and the fact that RP is untreatable, genetic testing for presymptomatic diagnosis of RP is controversial. Meanwhile, new genes are still to be identified, mostly by family linkage and sib-pair analysis. Research on gene therapy for RP requires information on gene mutations causative of RP.

Eye Proteins↗
PubMed2005

Genetic markers for retinitis pigmentosa.

OBJECTIVE: To review recent advances in the molecular genetics of retinitis pigmentosa with emphasis on the development of genetic markers that aids diagnosis and prognosis. DATA SOURCES AND EXTRACTION: Literature search of MEDLINE from 1988 to 2005 using the following key words: 'retinitis pigmentosa', 'rhodopsin', 'RP1', 'RPGR', and 'genetic counseling'. References of two genes--RHO and RP1--causing retinitis pigmentosa in the Chinese population were reviewed. STUDY SELECTION: Literature and data related to genetic markers for retinitis pigmentosa. DATA SYNTHESIS: The genetics of retinitis pigmentosa is complex. It can be sporadic or familial, with heterogeneous transmission modes. Retinitis pigmentosa is associated with nearly 40 chromosomal loci, where 32 candidate genes have been identified. A large number of mutations are known to cause retinitis pigmentosa. But no single mutation alone accounts for more than 10% of unrelated retinitis pigmentosa patients. Genetic tests for retinitis pigmentosa require screening for a consort of mutations in a large number of genes. High throughput screening technology such as denaturing high performance liquid chromatography and automated DNA sequencing should make such tests feasible. CONCLUSIONS: Rapid developments in the understanding of the genetics of retinitis pigmentosa have helped to establish genetic tests of clinical value. The complex mode of inheritance nonetheless makes genetic counselling difficult, even in the presence of positive genetic screening results.

Chromosome Mapping↗
PubMed2004

Smoking and depressive symptoms in Chinese elderly in Hong Kong.

OBJECTIVE: To examine the association between smoking and depressive symptoms among Chinese elderly in Hong Kong. METHOD: Cross-sectional data on smoking and depressive symptoms from 56,167 Chinese elderly aged 65 or over in Hong Kong were analysed using logistic regression. RESULTS: Current smokers and former smokers were more likely to have depressive symptoms than never smokers. The adjusted odds ratios (OR) and 95% confidence interval (CI) in males and females respectively were 1.62 (1.34-1.96) and 1.43 (1.20-1.70) for current smokers, and were 1.18 (0.99-1.40) and 1.29 (1.12-1.47) for former smokers. Former smokers were less likely to have depressive symptoms than current smokers (OR = 0.80, 95% CI: 0.70-0.92). CONCLUSION: Smoking is positively associated with depressive symptoms in Chinese elderly. Health care workers should be vigilant about the detection of depressive symptoms in elderly smokers.

Aged↗
PubMed2004

Telerehabilitation - a new model for community-based stroke rehabilitation.

Community resources for stroke clients are underdeveloped in Hong Kong and stroke survivors often face difficulties in community reintegration. We have examined the feasibility of using videoconferencing for community-based stroke rehabilitation. The sample comprised 21 stroke patients living at home. All the subjects participated in an eight-week intervention programme at a community centre for seniors. The intervention, which comprised educational talks, exercise and psychosocial support, was conducted by a physiotherapist via a videoconference link. The Berg Balance Scale (BBS), State Self-Esteem Scale (SSES), Medical Outcomes Study 36-item Short Form (SF-36) and a stroke knowledge test were administered at the start and end of the programme. In addition, at the start of the study the Geriatric Depression Scale 15-item Short Form, the Elderly Mobility Scale and the Lawton Instrumental Activities of Daily Living Scale were used to assess subjects' baseline status, and a focus group was also held at the end of the programme to gather qualitative findings. Nineteen subjects completed the eight-week intervention. The baseline functional status was high, although 52% had symptoms of depression. After the intervention, there were significant improvements in BBS, SSES and knowledge test scores and scores on all subscales of the SF-36. All the subjects accepted the use of videoconferencing for delivery of the intervention. The pilot study demonstrated the feasibility, efficacy and high level of acceptance of telerehabilitation for community-dwelling stroke clients.

Aged↗
PubMed2004

Modified endoscopic dacryocystorhinostomy with posterior lacrimal sac flap for nasolacrimal duct obstruction.

OBJECTIVES: To evaluate a new technique of modified endoscopic dacryocystorhinostomy involving the creation of a large posterior flap at the lacrimal sac and to compare its success rate with that of the conventional endoscopic method of excising the entire medial lacrimal sac wall as a surgical treatment for epiphora caused by nasolacrimal duct obstruction. DESIGN: Retrospective, interventional, and comparative case series. SETTING: University teaching hospital, Hong Kong. PATIENTS AND METHODS: Only adults with primary nasolacrimal duct obstruction were included. Consecutive endoscopic dacryocystorhinostomy was performed using two different techniques from July 1999 to June 2001. The new technique involved the creation of a large posterior flap at the medial lacrimal sac wall, reflecting it posteriorly, followed by removal of the remaining small anterior flap (the LSF group). Other patients had the entire medial lacrimal sac wall excised (the ELS group). MAIN OUTCOME MEASURES: Surgical success was defined by free fluorescein drainage from the conjunctival sac into the rhinostomy site at least 3 months after silicone stent removal. RESULTS: Ninety-nine procedures were performed in 99 patients. The success rate was 89.1% (41/46) in the LSF group and 71.7% (38/53) in the ELS group. The difference between the two groups was statistically significant (Chi squared test, P=0.031). CONCLUSIONS: Our new and modified technique of endonasal dacryocystorhinostomy has a greater success rate than conventional endonasal dacryocystorhinostomy. A large-scale prospective randomised controlled trial to further evaluate the efficacy and safety of this surgical technique is under way.

Adult↗
PubMed2003

Red eyes as the initial presentation of systemic meningococcal infection.

The present paper is a report of a 14-month-old boy who presented with fever, coryzal symptoms and red eyes. The patient developed a generalized tonic clonic convulsion on day 2 of his illness. Ophthalmological assessment demonstrated bilateral hypopyon and vitreous opacity resulting from endophthalmitis. Cerebrospinal fluid was positive for Neisseria meningitidis (A, C, Y, W 135) by latex agglutination. He was treated with high dose intravenous cefotaxime and intravitreal ceftazidime. He made good recovery and his vision was preserved. In view of the potential morbidity and mortality associated with systemic meningococcal infection, the presence of red eye and hypopyon provides important diagnostic clues indicating the need to investigate beyond superficial conjunctivitis. It should prompt the clinician to recognize endopthalmitis early and accurately diagnose this serious disease.

Anti-Infective Agents↗
PubMed2003

Unexplained recurrent pericardial effusion: a lethal warning?

A case of a 37 year old man with cardiac angiosarcoma causing recurrent pericardial effusion, who eventually died of cardiac rupture, is presented. The diagnosis was not established until the postmortem examination despite echocardiography, pericardiocentesis, and pericardial biopsy investigations. There is neither a specific manifestation that enables early recognition nor well proven effective treatment against this disease. Accordingly, the prognosis of cardiac angiosarcoma remains grave. A high index of suspicion is recommended in patients who present with unexplained pericardial effusion.

Adult↗
PubMed2001

RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa.

Heterozygous truncating mutations in the RP1 gene cause approximately 7% of autosomal dominant retinitis pigmentosa (RP) cases. To examine the role of RP1 mutations in RP, we screened 101 unrelated Chinese RP patients (unselected for mode of inheritance) and 190 elderly normal control subjects for sequence changes in the coding exons for the 2156 amino acid RP1 protein. One patient had a mutation, thus RP1 mutations cause about 0.0% to 5.4% (95% confidence interval) of all RP among Chinese. The mutation was R677X, the most common found in Americans. Five other known sequence changes were found. In addition, nine novel sequence alterations were identified: 746G>A (R249H), 1437G>T (M479I), 2116G>C (G706R), 3024G>A (Q1008Q), 3188G>A (Q1063R), 5797C>T (R1933X), 6423A>G (I2141M), and the variants 6542C>T and 6676T>A, both in the 3' untranslated region. One control subject and three members of a non-RP family were heterozygous for R1933X, which is therefore likely to be a non-disease-causing variant. The most C-terminal truncation previously reported was due to Tyr1053 (1-bp del) and occurred in RP patients. Thus the presence of a normal level of at least part of RP1 between amino acids 1052 and 1933 appears necessary to prevent RP. Hum Mutat 17:436, 2001.

3' Untranslated Regions↗
PubMed2001

Molecular diagnostics for retinitis pigmentosa.

BACKGROUND: At least 1 million people worldwide have retinitis pigmentosa (RP), making it relatively common among the inherited forms of blindness. Mutations in many genes may cause RP. The most common known mutation, Pro347Leu in rhodopsin, is found in no more than about 1% of unrelated patients, implying the impracticality of a diagnostic test which would screen only for a few, common mutation sites. CONCLUSIONS: Ongoing discovery and study of RP genes makes it feasible to consider a molecular diagnostic test which would screen coding regions of all known RP genes by a mutation detection method such as conformation-sensitive gel electrophoresis followed by sequencing. The parallel development of RP genetic knowledge and treatments such as gene therapy will make such tests both possible and necessary.

China↗