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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

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↗
PubMed1999

Clinical and genetic studies of Van der Woude syndrome in Sweden.

Van der Woude syndrome (VWS) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip, hypodontia and cleft lip and/or cleft palate. It has been reported as the most common form of syndromic orofacial clefting with very high penetrance and varied expressivity. The disease locus for VWS has been mapped to chomosome 1q32, but the gene is yet to be cloned. Here we report a total of 11 Swedish VWS patients: 9 familial cases from two families and two isolated cases. Clinical examination of these patients showed phenotypic variability, even between patients from the same family. Genetic studies were performed using four microsatellite markers from chromosome 1q32. Constitutional deletion in this region was not demonstrated in any of the familial or isolated cases. However, in the two VWS families, linkage analysis using these markers showed positive LOD (logarithm of the odds) scores ranging from 2.56 to 2.88 to all individual markers. The highest LOD score of 3.75 was obtained with the combined haplotypes of D1S491 and D1S205, thus confirming linkage of VWS in these two families to 1q32. We conclude that there is varied expressivity but no evidence of genetic heterogeneity in VWS.

Anodontia↗
PubMed1999

Alternative genetic pathways in parathyroid tumorigenesis.

In this study 44 parathyroid tumors from 26 sporadic cases, 10 cases previously given irradiation to the neck, and 8 familial cases were screened for sequence copy number alterations by comparative genomic hybridization. In the sporadic adenomas, commonly occurring minimal regions of loss could be defined to chromosome 11 (38%), 15q15-qter (27%), and 1p34-pter (19%), whereas gains preferentially involved 19p13.2-pter (15%) and 7pter-qter (12%). Multiple aberrations were found in sporadic tumors with a somatic mutation and/or loss of heterozygosity of the MEN1 gene. The irradiation-associated tumors also showed multiple comparative genomic hybridization alterations and frequent losses of 11q (50%), and subsequent analysis of the MEN1 gene demonstrated mutations in 4 of 8 cases (50%). The adenomas from familial cases showed few alterations, and in 3 of these tumors a gain of 19p13.2-pter was seen as the only aberration. In this study numerical copy number alterations were frequently detected in sporadic and irradiation-associated parathyroid adenomas, although these tumors are benign. The majority of these alterations were found in tumors with confirmed involvement of the MEN1 gene locus in agreement with a role of the MEN1 gene in genomic stability. Furthermore, the frequent occurrence of MEN1 mutations (50%) in irradiation-associated parathyroid tumors suggests that inactivation of the MEN1 gene is an important genetic alteration involved in the development of parathyroid tumors in postirradiation patients.

Adenoma↗
PubMed1998

Health care reform and the transformation of nursing in Hong Kong.

Health care reform in Hong Kong in the 1990s has brought about dramatic change to the nursing discipline. This paper reports an ethnographic study which aimed at exploring the transformation of nursing in a regional hospital in Hong Kong during this period of reform. In the study, the restructuring of nursing work, its associated dynamics and resulting impacts upon the nursing profession were examined. A methodological triangulation approach to data collection encompassing interviews, participant observation and review of documents was used. The findings in this study suggest that the majority of nurses working in the case study hospital continue to be subject to medical dominance and are under management control. The emphasis on cost-effective care has however, fostered qualified nurses to claim more ownership of their professional judgement and autonomy. The health care reform has confirmed the status of two newly established groups of nurses, the nurse specialists and nurse managers. The development of the nursing profession is found to be closely connected to its work development. The preparation of the new generation of nurses, as revealed in this study, needs to emphasize the cognitive dimension of the professional competence. Some nurses need to be further educated in specialist practice and clinical management to maximize the contribution of nursing in health care delivery.

Anthropology, Cultural↗
PubMed1998

The nurse manager as a professional-managerial class: a case study.

AIM: This study set out to capture the work dynamics and impact of nurse managers during healthcare restructuring. BACKGROUND: The nurse managers are instrumental to healthcare reform in which the ultimate goal is the promotion of a cost-effective healthcare delivery system. METHODS: A case study approach was used. Interviews were conducted with 12 nurse managers working in an acute hospital in Hong Kong. The data was analysed initially by thematic analysis, followed by the extended case method. FINDINGS: This study showed that the coalition of the nurse and manager role gives rise to the professional-managerial class (PMC). These nurse PMCs enjoyed the kind of power, job satisfaction and work autonomy that frontline nurses did not experience. They managed nurses who predominantly occupied the workforce and managed nursing care that composed the main bulk of work in hospital service. CONCLUSIONS: The emergence of a group of nurse managers is essential to a cost-effective service, and to maximize nursing efforts in healthcare.

Cost-Benefit Analysis↗
PubMed1998

Determination of the solute removal index for urea by using a partial spent dialysate collection method.

In 22 hemodialysis patients, during a dialysis session, the solute removal index (SRI) for urea obtained from the use of a partial spent dialysate collection method was compared with that derived from the use of a total spent dialysate collection technique. The partial spent dialysate collection method was used to harvest a small representative sample of the total spent dialysate. The volumes of spent dialysate collected by the partial and the total spent dialysate collection methods were 1.7 +/- 0.4 L and 129.6 +/- 15.3 L, respectively. The total amount of urea nitrogen removed by dialysis as estimated by the partial spent dialysate collection method was similar to that determined by the total spent dialysate collection approach. As a result, the SRI value for urea obtained by the partial spent dialysate collection method (namely, 63% +/- 8%) correlated very well (r = 0.95, P < 0.001) with that derived by the total spent dialysate collection technique (namely, 62% +/- 8%). Our data suggest that it is feasible to use a simple partial spent dialysate collection method to obtain SRI results in patients treated with hemodialysis.

Female↗