Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease: a pilot study.

BACKGROUND: Little is known about the relationship between cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asian patients and severe asthma or idiopathic bronchiectasis. We investigated this potential relationship in the Singaporean Chinese. METHODS: Twenty patients with chronic pulmonary disease, 14 with severe asthma and 6 with idiopathic bronchiectasis, were screened for CFTR mutations by direct gene sequencing. The frequencies of identified putative mutations were compared against 40 unaffected controls and 96 unselected population samples. RESULTS: Three missense mutations (I125T, I556V, and Q1352H) and 1 splice site variant (intron 8 12TG5T) were identified in a total of 10 patients, representing a combined mutant/variant allele frequency of 0.25. These alleles were also observed in the controls, but at a significantly lower allele frequency of 0.09 (P<0.01). Furthermore, the I125T mutation was significantly associated with the idiopathic bronchiectasis sub-group (P<0.05). CONCLUSIONS: The significantly higher frequency of CFTR mutations among patients with chronic pulmonary disease compared with unaffected controls suggests that these mutations may increase risk for disease. The association of I125T with idiopathic bronchiectasis alone suggests that different mutations predispose to different disease.

Mandatory temperature monitoring in schools during SARS.

During the SARS outbreak, temperature monitoring was mandatory for all Singapore schoolchildren. None of the Singapore children with SARS were detected through school temperature screening. However, temperature monitoring procedures have a powerful psychological effect of reassuring parents and the public that schools are safe during a SARS outbreak.

The prevalence of asthma and allergies in Singapore; data from two ISAAC surveys seven years apart.

BACKGROUND AND AIMS: Over the past few decades, the prevalence of asthma has been increasing in the industrialised world. Despite the suggestion of a similar increase in Singapore, the 12 month prevalence of wheeze among schoolchildren in 1994 was 2.5-fold less than that reported in western populations. It was hypothesised that with increasing affluence in Singapore, the asthma prevalence would further increase and approach Western figures. A second ISAAC survey was carried out seven years later to evaluate this hypothesis. METHODS: The cross-sectional data from two ISAAC questionnaire based surveys conducted in 1994 (n = 6238) and in 2001 (n = 9363) on two groups of schoolchildren aged 6-7 and 12-15 years were compared. The instruments used were identical and the procedures standardised in both surveys. RESULTS: Comparing data from both studies, the change in the prevalence of current wheeze occurred in opposing directions in both age groups--decreasing in the 6-7 year age group (16.6% to 10.2%) but increasing to a small extent in the 12-15 year age group (9.9% to 11.9%). The 12 month prevalence of rhinitis did not change; there was an increase in the current eczema symptoms in both age groups. CONCLUSION: The prevalence of current wheeze, a surrogate measure of asthma prevalence, has decreased significantly in the 6-7 year age group. Eczema was the only allergic disease that showed a modest increase in prevalence in both age groups.

Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III.

AIMS: The objectives were to evaluate the clinical course of spinal muscular atrophy (SMA) types II and III patients necessitating scoliosis surgery at the National University Hospital, Singapore. METHODS: A retrospective review of SMA types II and III patients, born over a 10-year period between 1983 and 1992, was conducted. RESULTS: There were eight patients: four with SMA type II and four with SMA type III. The mean age at scoliosis surgery was 9 years 7 months (range 7 years 6 months-12 years 4 months). The mean preoperative Cobb angle was 65.4 degrees (range 43-90 degrees ) and the mean postoperative Cobb angle was 22.6 degrees (range 12-45 degrees ), with a mean correction of 64.8% (range 47.7-77.8%). The decline in percentage predicted forced vital capacity (FVC) was 7.7% (95% CI: 12.4% to 3.0%) per year preoperatively and this was reduced to 3.8% (95% CI: 5.8% to 1.9%) per year postoperatively. The mean length of preoperative and postoperative lung function follow-up was 6.3 months (range 0.03-31 months) and 44 months (range 0-110 months), respectively. CONCLUSIONS: This study suggests that pulmonary function in SMA types II and III continues to decline after scoliosis surgery, though the rate of decline is less marked. Overall, the combined results from this study and all other previously published studies are conflicting in regard to the effect of scoliosis surgery on pulmonary function in SMA types II and III, though half of the studies (3 of 6) did demonstrate a continued decline in lung function postoperatively. This decline in pulmonary function despite spinal stabilization is likely secondary to the progressive neuromuscular weakness of the disease.

Direct spinal curvature digitization in scoliosis screening--a comparative study with Moiré contourgraphy.

The forward bending test, widely used in scoliosis screening, is associated with high false-positive rates. We postulate that direct surface measurement of the spinal curvature by digitization of the spinous processes used in combination with the forward bending test could increase the predictive value of detecting scoliosis without sacrificing sensitivity. Sixty consecutive patients referred from a school screening program were included in this study. All had moiré contourgraphy, spinous process digitization, and erect frontal radiographs of the spine. The number of false positives from the forward bending test was 35. Moiré contourgraphy did not reduce the number of false positives significantly. A posterior spinal deformity of 10 degrees or more predicted scoliosis in all patients, with 15 false-positive readings. Direct measurement of the spinal curvature by spinous process digitization can be an effective second-stage screening tool for scoliosis in centers where all the screened positives are referred to a single center.