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Biomedical subjects

F K Wong

Publications and source records attributed to F K Wong.

At least 19 recordsLinked to original sources
PubMed2001

Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2.

Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant neoplasia syndrome characterized mainly by benign skin tumors, and to a lesser extent, renal tumors and spontaneous pneumothorax. To map the BHD locus, we performed a genome-wide linkage analysis using polymorphic microsatellite markers on a large Swedish BHD family. Evidence of linkage was identified on chromosome 17p12-q11.2, with a maximum LOD score of 3.58 for marker D17S1852. Further haplotype analysis defined a approximately 35 cM candidate interval between the two flanking markers, D17S1791 and D17S798. This information will facilitate the identification of the BHD gene, leading to the understanding of its underlying molecular etiology.

Carcinoma, Renal Cell↗
PubMed2001

Computerization of clinical practice in Hong Kong.

The objective of this study was to assess the current level of computerization in clinical practice in Hong Kong through a population-based, physician survey conducted in 2000.A self-completed, 20-question, postal questionnaire was sent to 4850 randomly selected doctors in Hong Kong. We received 897 completed responses. Over one-third of doctors in the overall sample were already recording patient summaries, processing laboratory results and specialist reports, and preparing referral notes electronically. Patient registration (52.2%), billing systems (40.2%), appointment scheduling (39.9%), and payroll (36.9%), were the commonest administrative functions to have been computerized. Seventy per cent of doctors in solo or small-group ('individual') practices did not yet have any clinical function computerized compared with only 30.7% for those working in large, corporate organizations. Similarly, approximately two-thirds of administrative tasks in 'individual' clinics were not computerized, while corporate physicians reported a corresponding percentage of 39.3%. Younger age, male gender, specialist qualifications, more computers in the practice, higher numbers of administrative tasks already computerized, higher levels of knowledge about and positive attitudes towards computer applications in clinical practice were all positively associated with more clinical tasks already computerized in the practice. The present study has systematically documented the extent of clinical computer use in Hong Kong and identified areas for improvement as well as specific groups of physicians who might benefit from targeted efforts promoting computerization in practice.

Adult↗
PubMed2001

Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34.

The Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, cleft lip and/or cleft palate. It is the most common cleft syndrome. VWS has shown remarkable genetic homogeneity in all populations, and so far, all families reported have been linked to 1q32-q41. A large Finnish pedigree with VWS was recently found to be unlinked to 1q32-q41. In order to map the disease locus in this family, a genome wide linkage scan was performed. A maximum lod score of 3.18 was obtained with the marker D1S2797, thus assigning the disease locus to chromosomal region 1p34. By analyses of meiotic recombinants an approximately 30 cM region of shared haplotypes was identified. The results confirm the heterogeneity of the VWS syndrome, and they place the second disease locus in 1p34. This finding has a special interest because the phenotype in VWS closely resembles the phenotype in non-syndromic forms of cleft lip and palate.

Abnormalities, Multiple↗
PubMed2001

Educating nurses to care for the dying in Hong Kong: a problem-based learning approach.

Caring for dying patients is an essential and major aspect of nursing care. However, previous studies have revealed that nurses felt uncomfortable and inadequate in dealing with the dying patients and their families. This study reports the effectiveness of a problem-based learning approach in death education among a group of registered nurses in Hong Kong. Three problems, with three segmented scenarios related to cancer nursing, were used. Students went through the problem-based learning process and documented their learning throughout the course in journals. A total of 72 sets of journals were collected and analyzed. The strategies of within case and cross-case analysis were employed. The within case analysis explored the learning development of students for each problem. The cross-case analysis compared and contrasted findings of the within case analysis. Three themes have been derived from the findings. They were: nurses acknowledging their emotions in facing death and dying, a need for the nurses to be better equipped in communication and counseling, and a holistic and family-centered approach to care. This study provides evidence showing that problem-based learning is an effective strategy to enhance nurses' self-awareness of death and dying issues, and to stimulate nurses to formulate a plan that addresses the physical, psychological, and social aspects of care. Findings also reveal that nurses need to take into account the particular reactions of death and dying in the Chinese culture when planning care.

Adult↗
PubMed2001

Association of a novel constitutional translocation t(1q;3q) with familial renal cell carcinoma.

Four cases of late onset clear cell renal cell carcinoma (RCC), a case of gastric cancer, and a case of exocrine pancreatic cancer were identified in a Japanese family. In order to elucidate the underlying mechanism for tumorigenesis in this family, extensive genetic studies were performed including routine and spectral karyotyping (SKY), fluorescence in situ hybridisation (FISH), comparative genomic hybridisation (CGH), loss of heterozygosity studies (LOH), and VHL mutation analysis. A germline translocation t(1;3)(q32-q41;q13-q21) was identified by karyotyping in five members of the family including all three RCC cases tested. The translocation was refined to t(1;3)(q32;q13.3) by FISH analysis using locus specific genomic clones, and the two breakpoints were mapped to a 5 cM region in 3q13.3 and a 3.6 cM region in 1q32. Both CGH and allelotyping using microsatellite markers showed loss of the derivative chromosome 3 carrying a 1q segment in the three familial RCCs analysed. Additional chromosomal imbalances were identified by CGH, including amplifications of chromosomes 5 and 7 and loss of 8p and 9. No germline VHL mutation was found but two different somatic mutations, a splice (IVS1-2A>C) and a frameshift (726delG), were identified in two RCCs from the same patient confirming their distinct origin. Taken together, these results firmly support a three step model for tumorigenesis in this family. A constitutional translocation t(1q;3q) increased the susceptibility to loss of the derivative chromosome 3 which is then followed by somatic mutations of the RCC related tumour suppressor gene VHL located in the remaining copy of chromosome 3.

Adenocarcinoma, Clear Cell↗
PubMed2000

Loss of heterozygosity in sporadic parathyroid tumours: involvement of chromosome 1 and the MEN1 gene locus in 11q13.

OBJECTIVE: Hyperparathyroidism (HPT) is a common endocrine disorder. Several loci of genetic interest have been identified in parathyroid tumours, including the MEN1 gene locus at 11q13; the HPT-JT region at 1q21-q32; and a putative tumour suppressor gene on 1p. We analysed these intervals, which harbour known genes or putative loci associated with familial hyperparathyroidism, in order to clarify the involvement of the respective regions in parathyroid tumourigenesis. DESIGN: We performed loss of heterozygosity (LOH) studies on 33 sporadic parathyroid tumours using a PCR based technique. A total of 22 microsatellite markers were used to analyse loci at 11q13, 1q21-q32 and 1p. Ten markers located distal on 1p, eight markers encompassed the HPT-JT region at 1q21-q32 and four markers surrounded the MEN1 gene locus at 11q13. MEN1 mutations were screened for using Single Strand Conformation Polymorphism analysis (SSCP) and automated sequencing of SSCP variants. PATIENTS: Thirty-three parathyroid glands and the corresponding blood samples were obtained from 33 patients (26 females and seven males) who underwent parathyroidectomy for primary hyperparathyroidism. RESULTS: Loss of heterozygosity was detected in 13 of 33 (39%) cases at 11q13, 6 of 33 (18%) cases at 1p, and in three of 33 (9%) cases at 1q (in conjunction with 1p loss). Only one of the 18 tumours in which LOH was detected, showed LOH at both chromosome 1 and chromosome 11. Additionally, those tumours found to exhibit LOH at 11q13 were screened for MEN1 mutations using single strand conformation polymorphism analysis (SSCP) and automated sequencing. Nine novel somatic mutations were found on the remaining allele in 13 (69%) tumours. CONCLUSIONS: This study consolidates the role of multiple loci in the pathogenesis of sporadic parathyroid tumours. The results indicate that there are at least two genetic loci involved in sporadic parathyroid tumourigenesis on chromosome 1, one of which has been linked to the distinct familial parathyroid condition, hyperparathyroidism-jaw tumour (HPT-JT) syndrome. The high frequency of loss of heterozygosity at 1p suggests the presence of a tumour suppressor at this locus.

Adenoma↗
PubMed2000

A phenomenological study of early nursing experiences in Hong Kong.

The experience of primary professional socialization is crucial for neophytes to learn to become a nurse. These early nursing encounters may also have long-term effects on professional development of individual nurses. However, research into the early experiences of nurses has been poorly documented. This study endeavours to reveal the early lived nursing experience amongst a group of nurses in Hong Kong. This study adopts a phenomenological approach which involves the thematic analysis of the critical incidents provided by 77 subjects. Findings revealed that incidents associated with death and dying, and clinical learning embracing interpersonal relations and professional development, were the most memorable events. Nurses were in general not equipped adequately to communicate with the dying and the grieving relatives. The subjects disclosed that positive clinical encounters confirmed their value of nursing work and motivated them to stay in the profession. Conversely, the negative experiences made them seriously consider leaving nursing. A number of implications for nursing education have been drawn from the research findings.

Existentialism↗
PubMed2000

The effects of the 'learning by proposing to do' approach on Hong Kong nursing students' research orientation, attitude toward research, knowledge, and research skill.

The knowledge, attitudes, research orientation and skills of a group of Hong Kong Registered Nurses studying a BSc(Hons) Nursing course were evaluated using a quantitative instrument developed specifically for this purpose. The objectives of the study were to develop and examine the reliability and validity of the instrument and to evaluate the effects of a Research Methodology subject which focused on learning by 'proposing to do'. The instrument was administered to 72 participants at the beginning of the research subject, and 14 weeks later at the end of the subject. There was a statistically significant increase in the means for the knowledge, research orientation and skills sections of the instrument between pre- and post-testing. The instrument proved reliable as a measure of the research constructs and offers opportunities for future comparative research studies.

Adult↗
PubMed2000

Popliteal pterygium syndrome in a Swedish family--clinical findings and genetic analysis with the van der Woude syndrome locus at 1q32-q41.

The present study describes a Swedish family in which the mother and her son were affected with signs of popliteal pterygium syndrome (PPS, OMIM 119500). Both individuals had bilateral complete cleft lip and palate, oral synechiae, paramedian pits on the lower lip, toe syndactyly and a piece of triangular skin overgrowth on the great toes. The son also presented with soft tissue syndactyly of the 2nd and 3rd fingers. Although popliteal pterygium was not found, the above clinical features were diagnostic for PPS. Chromosomal abnormalities were not revealed in either case by cytogenetic analyses. A test for microdeletion in the VWS region at 1q32-q41 was performed in the family using 5 polymorphic microsatellite markers from the region. The affected son was found to be heterozygous for all 5 markers, suggesting that microdeletion at the VWS region was unlikely. The VWS locus, however, was not excluded by haplotype analysis of the family.

Abnormalities, Multiple↗
PubMed2000

Trends in nursing education in China.

PURPOSE: To explore the current trends and development of nursing education in China. Nursing education in China has developed rapidly in alignment with economic growth of this vast country. DESIGN: Descriptive, using 345 manuscript abstracts from various regions of China, submitted for the 1996 Sino-Hong Kong Educational Conference. METHODS: Content analysis of manuscript abstracts was done to describe the trends. Codes were determined after several rounds of independent analysis. FINDINGS: Development of nursing education in China appears in line with global trends. The preparation of a pragmatic nurse was emphasized by nurse educators who also advocate total patient care and the integration of traditional Chinese medicine in nursing education. Areas seldom mentioned, however, were student-centered approaches to learning, advanced practice, and the evaluation of educational processes and outcomes. CONCLUSIONS: Nurse educators in mainland China appear aware of the dynamics and challenges in health care, and the need for preparing a new generation of nurses to face these challenges. Educators in China need to adopt new approaches in teaching and learning to prepare nurses to function in a wide range of health care settings, and to monitor and evaluate educational outcomes.

China↗
PubMed2000

Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree.

We report here our genetic findings of a family in which 14 members were affected with isolated primary hyperparathyroidism. Hyperparathyroidism is the main feature of multiple endocrine neoplasia type 1 (MEN1), making the recently cloned MEN1 gene a prime candidate gene in this family. Significantly positive lod scores were achieved with D11S4946 (3.36) and D11S4940 (3.53), and by combining the results from these two markers, a maximum positive lod score of 4.12 at recombination fraction 0.00 was obtained. Mutation analysis of MEN1 performed by full sequencing identified a missense mutation in exon 4, causing an amino acid change from glutamine to proline at codon 260. This mutation (Q260P) was present in all affected family members, and the inheritance of the mutation was in complete agreement with the disease-associated haplotype. In comparison with the recent functional studies of the menin protein interactions, this mutation is located in a region with little or no binding activity to JunD and activating protein-1 transcription factor. We conclude that some of the familial isolated primary hyperparathyroidism families constitute a milder variant of MEN 1, which is associated with a functionally milder missense mutation.

Adult↗
PubMed2000

A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome.

Familial primary hyperparathyroidism is the main feature of 2 familial endocrine neoplasia syndromes: multiple endocrine neoplasia type 1 (MEN 1) and hyperparathyroidism-jaw tumor syndrome (HPT-JT). The latter is a recently described syndrome that has been associated with ossifying fibroma of the jaw and various types of renal lesions, including benign cysts, Wilms' tumor, and hamartomas. To further illustrate the natural history of this syndrome, we describe a large, previously unreported Dutch kindred in which 13 affected members presented with either parathyroid adenoma or carcinoma; in 5 affected individuals, cystic kidney disease was found. Additionally, pancreatic adenocarcinoma, renal cortical adenoma, papillary renal cell carcinoma, testicular mixed germ cell tumor with major seminoma component, and Hürthle cell thyroid adenoma were also identified. Linkage analysis of the family using MEN1-linked microsatellite markers and mutation analysis excluded the involvement of the MEN1 gene. Using markers from the HPT-JT region in 1q2531, cosegregation with the disease was found, with a maximum logarithm of odds score of 2.41 obtained for 6 markers using the most conservative calculation. Meiotic telomeric recombination between D1S413 and D1S477 was identified in 3 affected individuals, and when combined with previous reports, delineated the HPT-JT region to 14 centimorgan. Combined comparative genomic hybridization and loss of heterozygosity data revealed complex genetic abnormalities in the tumors, suggesting different possible genetic mechanisms for the disease. In conclusion, we report a family with hyperparathyroidism linked to chromosome 1q, and exhibiting several types of renal and endocrine tumors that have not been previously described.

Chromosome Mapping↗
PubMed2000

Linkage analysis of candidate regions in Swedish nonsyndromic cleft lip with or without cleft palate families.

OBJECTIVE: To analyze linkage of five candidate regions for nonsyndromic cleft lip with or without palate (CLP) on chromosome 2p13, 4q, 6p23, and 19q13; in addition chromosome 1q32, the locus for van der Woude syndrome, on Swedish CLP families. DESIGN: Three to five linked microsatellite markers were selected from each candidate region. Polymerase chain reaction (PCR) with fluorescent-labeled microsatellite markers was performed on DNA samples from the participating families. Electrophoresis of the PCR products was performed on a laser-fluorescent DNA sequencer. The genotype data were analyzed with multipoint linkage analysis. Modes of inheritance tested included two autosomal dominant, an autosomal recessive, and a nonparametric model. Multipoint logarithm of odds (LOD) scores were also calculated by assuming genetic heterogeneity. PARTICIPANTS: Nineteen Swedish multigenerational families with at least two first-degree relatives affected with CLP. Greater than 50% of the families studied show vertical transmission of the clefting phenotype and both inter- and intrafamilial variability were noted. RESULTS: Cumulative multipoint LOD scores for the whole group of families calculated under autosomal dominant modes of inheritance were negative in all regions and less than -2 except chromosome 6p23. LOD scores calculated under recessive inheritance and the nonparametric model were inconclusive. There was no significant evidence of genetic heterogeneity among the sample group. CONCLUSIONS: The group of Swedish CLP families did not demonstrate significant linkage to any of the five candidate regions examined. This might suggest a new but yet unknown CLP locus or loci in this family group. However, because linkage could not be excluded in some individual families, they should still be tested with candidate genes from these regions.

Chromosome Mapping↗
PubMed1999

Characterization of the MEN1 ortholog in zebrafish.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome predisposing to multiple tumors. The responsible gene, MEN1, has been identified and inactivating mutations reported. It encodes a protein named menin, which lacks homology to any known proteins. Comparative genomics is used to ascertain important functional domains via the identification of evolutionary conserved regions. Here we report the sequencing and characterization of the MEN1 gene in zebrafish (Danio rerio) at the cDNA level. Zebrafish menin is a 617 amino acid protein and, when compared with human and rodent proteins, shows 75% and 76% similarity, respectively. The most conserved region is amino acid residues 41-322 which shows a human/zebrafish similarity of 83%. Amino acids affected by inactivating missense mutations in MEN1 patients in this region are completely conserved between human and zebrafish. Such high correlation between conservation throughout evolution and mutation position strongly emphasizes the importance of this region.

Amino Acid Sequence↗
PubMed1999

Sporadic follicular thyroid tumors show loss of a 200-kb region in 11q13 without evidence for mutations in the MEN1 gene.

Loss of heterozygosity (LOH) in 11q13 where the tumor suppressor gene for multiple endocrine neoplasia type 1 (MEN 1) is located has been demonstrated in several tumor types, including follicular thyroid tumors, but whether the MEN1 gene is actually involved in their tumorigenesis is not known. In the present study, the involvement of the MEN1 gene in follicular thyroid tumors was investigated. By using 14 MEN1-linked microsatellite markers, LOH was demonstrated in 12 out of 60 follicular thyroid tumors: 2/18 adenomas, 4/15 atypical adenomas, 1/6 Hürthle cell adenomas, 1/9 carcinomas, 3/6 Hürthle cell carcinomas, and 1/6 anaplastic carcinomas. In the tumors with LOH, a single minimal region of overlapping deletions was mapped to the 200-kb interval between D11S4946 and D11S4939. Tumors that showed 11q13 LOH were screened for mutations of the MEN1 gene using single-strand conformation analysis. Abnormal shifts detected in seven tumors in two exons were sequenced, which revealed two different polymorphisms present in both tumor and constitutional DNA, but without somatic mutation. Taken together, these results suggest that in this region, a tumor suppressor gene other than MEN1 might be involved in the tumorigenesis of follicular thyroid tumors. Genes Chromosomes Cancer 26:35-39, 1999.

Adenocarcinoma, Follicular↗