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.
OBJECTIVES: To identify the epidemiological profile and prognostic factors of survival.
MATERIALS AND METHODS: A list of endometrial cancer patients in 2000-2011 was obtained from the hospital Record Department. Only cases confirmed by histopathology examination were included. We excluded those with incomplete medical records or referral cases. Simple and multiple Cox regression approaches were used for data analysis.
RESULTS: Only 108 cases were included with a mean (SD) age of 62.7 (12.3) years, with 87.0% Malay ethnicity. Grade of cancer was: 29.1% grade 1, 43.7% grade 2 and 27.2% grade 3. The majority of patients had non-endometrioid type (60.2%), with myometrial invasion (82.2%) and lymphovascular invasion (57.3%). The significant prognostic factors were age (HR 1.05; 95% CI: 1.02, 1.08, p=0.002) and having lymphovascular invasion (HR 2.15; 95% CI: 1.08, 4.29; p=0.030).
CONCLUSIONS: Endometrial cancer patients should be diagnosed earlier to reduce the risk of mortality. The public should be given education on the signs and symptoms of the disease.
METHODS: This study has an ecological design. As a measure of socioeconomic status, we used principal component analysis to construct a socioeconomic index using census data. Districts were ranked according to the standardised median index of households and assigned to each individual in the 5-year mortality data. The mortality indicators of interest were potential years of life lost (PYLL), standardised mortality ratio (SMR), infant mortality rate (IMR) and under-5 mortality rate (U5MR). Both socioeconomic status and mortality outcomes were used compute the concentration index which provided the summary measure of the magnitude of inequality.
RESULTS: Socially disadvantaged districts were found to have worse mortality outcomes compared to more advantaged districts. The values of the concentration index for the overall population of the Peninsula are C = -0.1334 (95% CI: -0.1605 to -0.1063) for the PYLL, C = -0.0685 (95% CI: -0.0928 to -0.0441) for the SMR, C = -0.0997 (95% CI: -0.1343 to -0.0652) for the IMR and C = -0.1207 (95% CI: -0.1523 to -0.0891) for the U5MR. Mortality outcomes within ethnic groups were also found to be less favourable among the poor.
CONCLUSION: The findings of this study suggest that socioeconomic inequalities disfavouring the poor exist in Malaysia.
METHODS: We determined the ability of B. pseudomallei to invade and survive intracellularly in A549 human lung epithelial cells, and also investigated the early transcriptional responses using an Illumina HumanHT-12 v4 microarray platform, after three hours of exposure to live B. pseudomallei (BCMS) and its secreted proteins (CCMS).
RESULTS: We found that the ability of B. pseudomallei to invade and survive intracellularly correlated with increase of multiplicity of infection and duration of contact. Activation of host carbohydrate metabolism and apoptosis as well as suppression of amino acid metabolism and innate immune responses both by live bacteria and its secreted proteins were evident. These early events might be linked to initial activation of host genes directed towards bacterial dissemination from lungs to target organs (via proposed in vivo mechanisms) or to escape potential sensing by macrophages.
CONCLUSION: Understanding the early responses of A549 cells toward B. pseudomallei infection provide preliminary insights into the likely pathogenesis mechanisms underlying melioidosis, and could contribute to development of novel intervention strategies to combat B. pseudomallei infections.