OBJECTIVE. To detect two novel mutations (C282Y and H63D) of the HFE gene in Chinese patients with hepatic iron overload. DESIGN. Multicentre retrospective study.

SETTING. Four public hospitals, Hong Kong.

PARTICIPANTS. Fifty Chinese patients who presented from January 1987 through December 1999 with hepatic iron overload from various causes.

MAIN OUTCOME MEASURES. The DNA from liver biopsy samples was tested for HFE mutations by restriction fragment length polymorphism analysis.

RESULTS. The sample DNA quality was unsatisfactory for analysis of the C282Y mutation in one case and the H63D mutation in nine cases. The C282Y mutation was not detected in any of the 49 satisfactory samples. Three of the 41 samples were heterozygous for the H63D mutation and only one was homozygous, giving an allele frequency of 6.1%. Of the three H63D-heterozygotes, one had beta-thalassaemia major, one had beta-thalassaemia minor, and one had hereditary spherocytosis. None of the 12 patients who were presumed to have primary haemochromatosis were positive for either mutation.

CONCLUSIONS. The classical form of human leukocyte antigen-linked hereditary haemochromatosis appears to be absent form this locality. The H63D mutation is found in a minority (9.8%) of the patients, in whom it may act synergistically with an erythropoietic factor.

Key words: Genes, MHC class I; Hemochromatosis/genetics; Hong Kong; Iron overload/genetics; Mutation, missense

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OBJECTIVE. To determine the patterns and the prevalence of microdeletions in the azoospermia factor subregions of the Y chromosome in Hong Kong Chinese men with severe male-factor infertility.

DESIGN. Controlled clinical study.

SETTING. Reproductive centre of a university teaching hospital, Hong Kong.

PARTICIPANTS. Fifty-eight men with severe male-factor infertility who participated in the in vitro fertilisation programme from May 1998 through March 1999, and 46 male volunteers with proven fertility.

MAIN OUTCOME MEASURES. Polymerase chain reaction analysis of DNA from peripheral blood lymphocytes using six loci spanning the AZFa, AZFb, and AZFc subregions of the Y chromosome.

RESULTS. No microdeletions were detected in the fertile controls or in patients with obstructive azoospermia. Deletions within the AZFc subregion were found in 9% (4/44) of men with non-obstructive azoospermia or severe oligospermia. Neither AZFa nor AZFb deletions were detected in any participants.

CONCLUSION. Deletions within the azoospermia factor subregions of the Y chromosome are associated with severe male-factor infertility in Hong Kong Chinese men.

Key words: Chromosome deletion; Infertility, male; Polymerase chain reaction; Y chromosome/genetics

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OBJECTIVES. To investigate the failure patterns and the prognostic factors following postoperative radiotherapy for salivary gland carcinoma.

DESIGN. Retrospective study.

SETTING. University teaching hospital, Hong Kong.

PATIENTS. Fifty patients who had non-disseminated salivary gland carcinoma and who received primary treatment from 1984 through 1993.

MAIN OUTCOME MEASURES. Demographic data, cancer T- and N-stages, histological type, site of origin, completeness of surgery, whether postoperative radiotherapy was given, and the clinical outcome.

RESULTS. Two (4%) patients had been treated with radiotherapy alone, six (12%) had undergone radical resection alone, and 42 (84%) had been radically treated by using both modalities. The 5-year overall survival and relapse-free survival rates were 78.4% and 63.1%, respectively. The free from local failure and free from distant metastasis rates at 5 years were 77.2% and 72.8%, respectively. The N-stage was a significant prognostic factor. The site of the primary tumour, T-stage, completeness of surgery, and use of postoperative radiotherapy were not significant independent prognosticators; however, among the T-stage tumours, the b-substage carcinomas had significantly fewer local failures (P=0.040) and better survival rates (P=0.038) than the a-substage carcinomas. There were seven (14%) locoregional failures without distant metastasis, seven (14%) cases of distant metastasis without locoregional failures, and four (8%) locoregional failures preceding distant metastasis; isolated regional relapse was rare (1/50; 2%). All regional failures (5/50; 10%) occurred ipsilateral to the primary lesion. There were no deaths due to lymphoepithelioma-like carcinoma or acinic cell carcinoma.

CONCLUSIONS. The N-stage is the main prognostic factor of overall survival, relapse- and metastasis-free recovery, and success of treatment for salivary gland carcinoma. Optimal locoregional treatment can help reduce distant metastasis, and the maximal use of postoperative radiotherapy may contribute to improved locoregional control. Elective ipsilateral neck radiotherapy is indicated for lymphoepithelioma-like carcinoma.

Key words: Combined modality therapy; Prognosis; Radiotherapy, high-energy; Salivary gland neoplasms/therapy; Survival analysis; Treatment outcome

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OBJECTIVES. To examine the interrelationships between obesity and various cardiovascular risk factors, and to investigate the relative importance of insulin and obesity in their associations with various pathophysiologies.

DESIGN. Cross-sectional clinic-based study.

SETTING. Medical clinics at a university teaching hospital, Shatin, Hong Kong.

PARTICIPANTS. A heterogeneous cohort of 767 Hong Kong Chinese subjects with a mean age of 43 (standard deviation, 14) years.

MAIN OUTCOME MEASURES. Body mass index, waist circumference, plasma insulin, insulin resistance index, fasting plasma glucose and lipid levels, blood pressure, and 24-hour urinary albumin excretion.

RESULTS. Pathophysiological abnormalities and risk factors are frequently clustered to varying degrees. Compared with the control subjects, patients with at least one component of the metabolic syndrome were more obese, hyperinsulinaemic, insulin resistant, hyperglycaemic, hypertensive, dyslipidaemic, and albuminuric (all variables, P<0.001). Increasing degrees of body mass index, waist circumference, plasma insulin level, and insulin resistance index were associated with an increasing number of risk factors after adjusting for age and sex (all variables, P <0.02). Multiple regression analysis showed that obesity, as reflected by either the body mass index or waist circumference, had a closer association than plasma insulin with the fasting plasma glucose concentration, blood pressure, and high-density lipoprotein-cholesterol and triglyceride concentrations. Using 19.0-20.9 kg/square m as the reference body mass index interval, the lowest cardiovascular risk was associated with a body mass index of <23.0 kg/square m. There was an increased risk of 3.1 and 5 times when the body mass index was 23.0-24.9 kg/square m and >/=25 kg/square m, respectively.

CONCLUSIONS. Obesity, hyperinsulinaemia, and insulin resistance are characteristic features of Hong Kong Chinese patients who have various components of the metabolic syndrome. Obesity has a greater effect than plasma insulin on various pathophysiologies.

Key words: Cardiovascular diseases; Hong Kong; Insulin resistance; Obesity; Risk factors; Syndrome

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OBJECTIVE. To study the level of knowledge of and attitude towards emergency contraception in a group of women requesting the termination of pregnancy.

DESIGN. Structured questionnaire survey.

SETTING. Family Planning Association and university teaching hospital, Hong Kong.

PARTICIPANTS. Two hundred women who requested the termination of an unplanned pregnancy between May 1997 and March 1998.

MAIN OUTCOME MEASURES. Demographic data, basic knowledge of contraception, reasons for terminating the pregnancy, and knowledge and usage of emergency contraception.

RESULTS. A sustantial proportion (33.0%) of women was ignorant of the existence of emergency contraception. Only 10.0% of women had used emergency contraception before and only 2.5% had used it in an attempt to prevent this pregnancy. Of the 134 women who knew about emergency contraception, the main reason (41.8%) for not using it was risk-taking behaviour. More nulliparous women (88.5% versus 57.6%; P<0.001) and women younger than 20 years (84.0% versus 61.3%; P<0.01) had heard of emergency contraception. Women who were educated beyond secondary school level (71.0% versus 37.5%; P<0.01) and unmarried women compared with married, cohabiting, or divorced women (87.1% versus 49.5%; P<0.001) were also more likely to have heard of emergency contraception. Women younger than 20 years were more likely to have used this form of birth control in the past (18.0% versus 7.3%; P<0.05)

CONCLUSION. There is a need to improve women's education about emergency contraception in Hong Kong.

Key words: Contraception; Contraceptives, postcoital; Knowledge, attitudes, practice; Pregnancy, unwanted; Sex behavior

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