METHODS: We herein report, to our knowledge, the first observation on the frequency and nature of GATA1 gene mutations in a cohort of Malaysian children with DS-associated TAM (n = 9) and ML-DS (n = 24) encountered successively over a period of five years at a national referral centre.
RESULTS: Of the 29 patients who underwent GATA1 analysis, GATA1 mutations were observed in 15 (51.7%) patients, including 6 (75.0%) out of 8 patients with TAM, and 9 (42.9%) of 21 patients with ML-DS. All identified mutations were located in exon 2 and the majority were sequence-terminating insertions or deletions (66.7%), including several hitherto unreported mutations (12 out of 15).
CONCLUSION: The low frequency of GATA1 mutations in ML-DS patients is unusual and potentially indicates distinctive genomic events in our patient cohort.
METHODS: A double-blind, parallel-group randomised controlled trial was carried out. The intervention group received oral care with chlorhexidine 0.2%, while the control group received routine oral care with thymol. Nurses provided oral care with assigned solutions of 20 mL once daily over seven days. Oral cavity assessment using the Brief Oral Health Status Examination form was performed before each oral care procedure. Data on medication received and the subsequent development of aspiration pneumonia was recorded. An oral swab was performed on Day 7 to obtain specimens to test for colonisation.
RESULTS: The final sample consisted of 35 (control) and 43 (intervention) patients. Chlorhexidine was effective in reducing oral colonisation compared to routine oral care with thymol (p < 0.001). The risk of oral bacterial colonisation was nearly three times higher in the thymol group compared to the chlorhexidine group.
CONCLUSION: The use of chlorhexidine 0.2% significantly reduced oral colonisation and is recommended as an easier and more cost-effective alternative for oral hygiene.
METHODS: In this cross-sectional study, the 15-item MAR-Scale was administered to 665 patients with hypertension who attended one of the four government primary healthcare clinics in the Hulu Langat and Klang districts of Selangor, Malaysia, between early December 2012 and end-March 2013. The construct validity was examined in two phases. Phase I consisted of translation of the MAR-Scale from English to Malay, a content validity check by an expert panel, a face validity check via a small preliminary test among patients with hypertension, and exploratory factor analysis (EFA). Phase II involved internal consistency reliability calculations and confirmatory factor analysis (CFA).
RESULTS: EFA verified five existing factors that were previously identified (i.e. issues with medication management, multiple medications, belief in medication, medication availability, and the patient's forgetfulness and convenience), while CFA extracted four factors (medication availability issues were not extracted). The final modified MAR-Scale model, which had 11 items and a four-factor structure, provided good evidence of convergent and discriminant validities. Cronbach's alpha coefficient was > 0.7, indicating good internal consistency of the items in the construct. The results suggest that the modified MAR-Scale has good internal consistencies and construct validity.
CONCLUSION: The validated modified MAR-Scale (Malaysian version) was found to be suitable for use among patients with hypertension receiving treatment in primary healthcare settings. However, the comprehensive measurement of other factors that can also lead to non-adherence requires further exploration.