OBJECTIVE. To study the clinical profile and genetic basis of Brugada syndrome in Chinese patients.

DESIGN. Prospective observational study.

SETTING. Seven regional public hospitals, Hong Kong.

MAIN OUTCOME MEASURES. The clinical and follow-up data of 50 patients (47 men, 3 women; mean age, 53 years) were collected, and genetic data of 36 probands and eight family members of three genotyped probands were analysed.

RESULTS. Eight patients survived sudden cardiac death (group A), 12 had syncope of unknown origin but no sudden death (group B), and 30 were asymptomatic before recognition of Brugada syndrome (group C). Programmed electrical stimulation induced sustained ventricular arrhythmias in 88% (7/8), 82% (9/11), and 27% (3/11) of patients in group A, group B, and group C, respectively. New arrhythmic events occurred in 50% (4/8) of patients in group A and 17% (2/12) of patients in group B after a mean follow-up period of 30 (standard deviation, 13) months and 25 (7) months, respectively. All group C patients remained asymptomatic during a mean follow-up period of 25 (standard deviation, 11) months. Five of 36 probands and three of eight family members who underwent genetic testing were found to have a mutation in their SCN5A gene.

CONCLUSIONS. Chinese patients with Brugada syndrome who are symptomatic have a high likelihood of arrhythmia recurrence, whereas asymptomatic patients enjoy a good short-term prognosis. The prevalence of SCN5A mutation among probands is 14%. Thus, Chinese patients with Brugada syndrome share with their western counterparts similar clinical and genetic heterogeneity.

Key words: Arrhythmia; Chinese; Death, sudden, cardiac; Genetics; Recurrence

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OBJECTIVE. To estimate the incidence and document the clinical characteristics of Williams-Beuren syndrome in the Hong Kong Chinese population.

DESIGN. Cytogenetic analysis and retrospective study.

SETTING. Clinical Genetic Service, Department of Health, Hong Kong.

PATIENTS. Forty-one Chinese patients with Williams-Beuren syndrome.

MAIN OUTCOME MEASURES. From 1 January 1995 to 30 June 2002, fluorescence in situ hybridisation was used to confirm diagnoses in 41 cases of Williams-Beuren syndrome by detecting chromosome 7q microdeletion. Case records were reviewed, the incidence of the condition in the local population was estimated, and the main clinical characteristics were determined.

RESULTS. The minimal incidence of Williams-Beuren syndrome in this locality was estimated to be approximately 1 per 23 500 live births. Common dysmorphic facial features included periorbital fullness (83%), full lips (80%), a long philtrum (51%), a flat nasal bridge (41%), and abnormal teeth (37%). No patients had a stellate iris. The majority (82%) had at least one documented cardiac anomaly; among these patients, peripheral pulmonary stenosis was diagnosed in 61% and supravalvular aortic stenosis in 45%. Nearly all (93%) of the study group exhibited developmental delay.

CONCLUSION. As in the West, patients with Williams-Beuren syndrome in the Hong Kong Chinese population display craniofacial dysmorphism, cardiovascular anomalies, and mental deficiency. Supravalvular aortic stenosis—the cardiac defect most commonly associated with Williams-Beuren syndrome in western countries—is less common than peripheral pulmonary stenosis in this region.Studies involving periodic cardiovascular evaluation are needed to confirm if this difference is significant.

Key words: Abnormalities, multiple; Genetic disease, inborn; Williams syndrome

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OBJECTIVE. To assess the feasibility of implementing a universal neonatal hearing screening programme using distortion product otoacoustic emission detection at a major teaching hospital in Hong Kong.

DESIGN. Descriptive study and questionnaire.

SETTING. Teaching hospital, Hong Kong.

METHODS. A total of 1064 infants, together with their mothers, were successfully recruited for the study. The participation rate was 99.3%. A three-stage hearing screening protocol using distortion product otoacoustic emission detection was adopted. Each of the participating infants was screened on three separate occasions (day 1-4, day 5-14, and day 21-30 after birth), irrespective of the test results. A questionnaire was administered to 364 randomly selected mothers to determine whether as consumers of the hearing screening service, mothers would find screening desirable.

RESULTS. Results of the screening demonstrated an incidence of permanent bilateral hearing loss (≥40 dB in the better ear) of 0.28%. The results also showed that 3.5% of the screened infants were referred for subsequent diagnostic audiological assessment, including those suspected with unilateral as well as bilateral hearing loss. Data obtained were comparable to other reported results obtained using multi-stage screening protocols. Taking b oth the false positive rate and the default rate into consideration, the most appropriate time for screening in this hospital setting appeared to be around day 5 to 14 when infants returned to the hospital’s day centre as out-patients for routine medical follow-up. Since this day centre service is not generally provided by all maternity hospitals in Hong Kong, an alternative time for screening would be around day 21 to 30 when infants could return as out-patients solely for the hearing test. The results of the questionnaire suggested that most mothers thought a neonatal hearing screening would be desirable (91.35%). The majority (81.70%) indicated a preference for screening either within a few days of birth at the maternity ward prior to discharge from the hospital, or between 5 and 30 days when returning to the hospital as an outpatient.

CONCLUSION. It was concluded that a universal neonatal hearing screening programme could be readily implemented in a maternity hospital setting in Hong Kong.

Key words: Feasibility studies; Hearing tests; Infant, newborn; Neonatal screening

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OBJECTIVE. To assess whether the addition of a Chinese herbal medicine formula to acupuncture affects the severity of symptoms and quality-of-life scores among patients with seasonal allergic rhinitis.

DESIGN. Randomised double-blind placebo-controlled trial.

SETTING. University teaching and research clinic, Australia.

PARTICIPANTS. Sixty-five patients with seasonal allergic rhinitis, who were recruited through public media.

INTERVENTION. Between July and December 1999, patients received acupuncture twice a week for 8 weeks plus either a Chinese herbal drug formula (n=33) or placebo (n=32) at a dosage of four capsules, three times daily.

MAIN OUTCOME MEASURES. The severity of nasal and non-nasal symptoms on a five-point scale, as assessed by both patients and an ear, nose, and throat specialist, and quality-of-life scores as measured by the Rhinoconjunctivitis and Rhinitis Quality of Life Questionnaire.

RESULTS. Sixty-one patients completed the study (31 in the intervention group and 30 in the control group). After 8 weeks, no significant difference was found between the two groups in the severity of nasal and non-nasal symptoms and in the Rhinoconjunctivitis and Rhinitis Quality of Life Questionnaire scores. Intention-to-treat analysis of categorical variables showed moderate-to-marked improvement rates of 72.7% and 81.2% for intervention and control groups, respectively. Six patients reported mild adverse events––three from each of the study groups.

CONCLUSION. The Chinese herbal formulation under investigation did not provide additional symptomatic relief or improvement in quality-of-life scores among patients with seasonal allergic rhinitis who were receiving acupuncture.

Key words: Acupuncture; Clinical trials; Hay fever; Medicine, traditinal; Treatment outcome

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OBJECTIVE. To determine the prevalence of penicillin and vancomycin tolerance in clinical isolates of Streptococcus pneumoniae.

DESIGN. Laboratory testing of 50 consecutive clinical isolates.

SETTING. District hospital, Hong Kong.

PATIENTS. Fifty patients with pneumonia or meningitis who were admitted to a district hospital in Hong Kong between August and October 2002.

MAIN OUTCOME MEASURES. Lysis, as assessed by loss of optical density at 4 hours at 540 nm, and reduction in viable count expressed as the log of the number killed ('log kill') after exposure of cultures to 10 times the minimum inhibitory concentration of penicillin and vancomycin.

RESULTS. Of the 50 isolates, five (10%) were tolerant to penicillin and one (2%) was tolerant to vancomycin.

CONCLUSION. This is the first report of vancomycin tolerance in Streptococcus pneumoniae in Hong Kong. Because vancomycin tolerance is associated with clinical failure in the treatment of pneumococcal meningitis, increased monitoring for resistant strains of organisms is suggested.

Key words: Streptococcus pneumoniae; Drug tolerance; Vancomycin

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