INTRODUCTION: Iron overload is a major concern in transfusion-dependent thalassaemia patients, with soluble transferrin receptors (sTfR) playing a key role in iron regulation. This study aimed to evaluate the gene expression of TfR1 and TfR2 and their association with ineffective erythropoiesis (IE) and iron overload in HbE/beta-thalassaemia patients. MATERIALS AND METHODS: A total of 2 ml whole peripheral blood was extracted for RNA from 6 subjects recruited from each HbE/beta-thalassaemia patient, beta-thalassaemia trait carriers, and healthy controls. TfR levels were measured using ELISA, while TfR1 and TfR2 gene expression were assessed using RT-qPCR. Data were analysed using ANOVA, Student's t-test, Kruskal-Wallis, and Mann-Whitney U tests with Bonferroni correction. RESULTS: Gene expression analysis revealed a significant downregulation of TfR2 in HbE/beta-thalassaemia patients and beta-thalassaemia carriers (P<0.001) compared to healthy controls, while TfR1 expression was significantly upregulated (P<0.001). Additionally, sTfR levels were statistically higher in HbE/beta-thalassaemia patients and parents compared to healthy controls (P<0.001). CONCLUSION: These findings suggest that TfR1 and TfR2 expression patterns may serve as potential biomarkers for assessing IE and iron overload in beta-thalassaemia. Furthermore, elevated sTfR levels indicated that the transfusion regimen was insufficient to suppress ineffective erythropoiesis. In beta-thalassaemia intermedia patients, haemoglobin levels may not be the most reliable marker for monitoring transfusion therapy, whereas sTfR could help in tailoring individualised transfusion regimens.
We demonstrated four patients with diffuse unilateral subacute neuroretinitis in young adolescents with good visual outcome which diagnosed from May 2020 until April 2021. All patients presented at early stage of the disease and the main complaint was reduced unilateral vision within 2 weeks duration. Systemic examinations and investigations were unremarkable except eosinophilia in case 1. Visual acuities during presentation ranged from 6/6 to 2/60. Anterior chamber inflammation noted in case 1 and 2. Fundus examinations in all patients revealed swollen optic disc, dilated and tortuous vessels, vasculitis, macular edema, presence of cluster deep yellow-white retinal lesions and varying degrees of vitritis except in case 4 , absence of macular edema. The worms were identified 2 weeks later in case 1 and one month later in case 4. A combination of oral albendazole 400 mg once daily and oral prednisolone (0.5 mg/kg daily with a weekly taper) were prescribed to all patients for 4-6 weeks except in case 4 was not prescribed with oral prednisolone. All patients responded well to oral medications. Both case 1 and 4 with visible motile worm treated with laser photocoagulation. Following treatments, no new retinal lesion seen and all patients achieved best corrected final best corrected visual acuity of 6/9 or better.
BackgroundPharmacoeconomics (PE) is essential in optimizing healthcare resource allocation and ensuring cost-effective treatment decisions. Despite its recognized importance, limited evidence exists regarding healthcare professionals' understanding and application of PE in Malaysia. This study assessed the knowledge, perception, and application of PE among healthcare professionals within the Ministry of Health (MOH) Malaysia.MethodsA cross-sectional online survey was conducted among MOH healthcare professionals. The survey captured demographic characteristics, familiarity with PE, self-reported knowledge, perception of its importance, and its application in clinical and formulary decision-making. Descriptive statistics were used to summarize the findings.ResultsA total of 754 respondents completed the survey, comprising pharmacists (71.5%), doctors (24.3%) and other healthcare professionals (4.2%). While 63.7% reported familiarity with PE, substantial knowledge gaps were observed, particularly in cost-utility and cost-effectiveness analyses. PE application was most prevalent in budget impact assessments for formulary decisions. Notably, 94.8% of Drug and Therapeutics Committee members recognized the importance of PE in decision-making, and 96.9% supported the need for dedicated personnel with PE competency.ConclusionPE knowledge and application varied across MOH healthcare professionals, underscoring the need for targeted training and capacity building to strengthen PE competency, ultimately supporting evidence-informed, cost-effective healthcare decision-making in Malaysia.
BACKGROUND:Streptococcus pneumoniae remains a major global health threat, causing diseases ranging from mild respiratory infections to severe conditions like pneumonia, sepsis, and meningitis. Although pneumococcal conjugate vaccines (PCVs), including PCV7, PCV10, and PCV13 have significantly reduced disease burden, especially in children, S. pneumoniae continues to exhibit high serotype and genetic diversity. Whole-genome sequencing (WGS) analysis offers high-resolution insights into clonal lineages and multidrug-resistant strains. However, genomic data on Malaysian isolates remain limited. METHODS:This study characterized the whole genome features and comparative profiles of seven invasive S. pneumoniae isolates from two tertiary hospitals in Malaysia. WGS analyses described serotype, sequence type (ST), antimicrobial resistance determinant genes, pan-genome structure, and recombination events. RESULTS:The average genome size was ∼2.12 Mbp, with 1 988-2 205 coding sequences. WGS-based MLST identified five sequence types (ST236, ST320, ST386, ST671, ST695), with ST236 linked to serotypes 19A and 19F related to PMEN clones Taiwan19F-14 and CC271. Core genome analysis with 35 global reference strains revealed three major clades. Notably, isolates TSP95, SSP45, and SSP46 clustered closely with strains from South Korea, suggesting a long-term persistence of ST320 over a decade. Recombination analysis identified both shared and isolate-specific events, forming distinct phylogenetic clusters. Extensive shared recombination was observed in several isolates, while others displayed isolate-specific events, indicating ongoing genetic diversification. CONCLUSION:These findings underscore the critical role of recombination in shaping pneumococcal population structure, evolution, and adaptation.
