METHODS: Genome-wide linkage analysis was carried out on eight large extended families of NSCL/P with the total of 91 individuals among Malay population using microarray platform. Based on linkage analyses findings, copy number variation (CNV) of LPHN2, SATB2, PVRL3, COL21A1, and TOX3 were identified in four large extended families that showed linkage evidence using quantitative polymerase chain reaction (qPCR) as for a validation purpose. Copy number calculated (CNC) for each genes were determined with Applied Biosystems CopyCallerTM Software v2.0. Normal CNC of the target sequence expected was set at two.
RESULTS: Genome-wide linkage analysis had discovered several genes including TOX3 and COL21A1 in four different loci 4p15.2-p16.1, 6p11.2-p12.3, 14q13-q21, and 16q12.1. There was significant decreased, p
RESULTS: A significant nonparametric linkage (NPL) score was detected in family 100. Other suggestive NPL and logarithm of the odds (LOD) scores were attained from families 50, 58, 99 and 100 under autosomal recessive mode. Heterogeneity LOD (HLOD) score ≥ 1 was determined for all families, confirming genetic heterogeneity of the population and indicating that a proportion of families might be linked to each other. Several candidate genes in linkage intervals were determined; LPHN2 at 1p31, SATB2 at 2q33.1-q35, PVRL3 at 3q13.3, COL21A1 at 6p12.1, FOXP2 at 7q22.3-q33, FOXG1 and HECTD1 at 14q12 and TOX3 at 16q12.1.
CONCLUSIONS: We have identified several novel and known candidate genes for nonsyndromic cleft lip and/or palate through genome-wide linkage analysis. Further analysis of the involvement of these genes in the condition will shed light on the disease mechanism. Comprehensive genetic testing of the candidate genes is warranted.
OBJECTIVE: The aim of this study is to evaluate the ICV in primary craniosynostosis patients after the cranial vault reshaping with or without FOA and to compare between syndromic and nonsyndromic synostosis group, to determine factors that associated with significant changes in the ICV postoperative, and to evaluate the resolution of copper beaten sign and improvement in neurodevelopmental delay after the surgery.
METHODS: This is a prospective observational study of all primary craniosynostosis patients who underwent operation cranial vault reshaping with or without FOA in Hospital Kuala Lumpur from January 2017 until Jun 2018. The ICV preoperative and postoperative was measured using the 3D computed tomography (CT) imaging and analyzed. The demographic data, clinical and radiological findings were identified and analyzed.
RESULTS: A total of 14 cases (6 males and 8 females) with 28 3D CT scans were identified. The mean age of patients was 23 months. Seven patients were having syndromic synostosis (4 Crouzon syndromes and 3 Apert syndromes) and 7 nonsyndromic synostosis. The mean preoperative ICV was 880 mL (range, 641-1234 mL), whereas the mean postoperative ICV was 1081 mL (range, 811-1385 mL). The difference was 201 mL which was statistically significant (P 1.0). However, there was 100% (n = 13) improvement of this copper beaten sign. However, the neurodevelopmental delay showed no improvement which was statistically not significant (P > 1.0).
CONCLUSION: Surgery in craniosynostosis patient increases the ICV besides it improves the shape of the head. From this study, the syndromic synostosis had better increment of ICV compared to nonsyndromic synostosis.
METHODS: This study utilised in-patient data from the case mix unit of Universiti Kebangsaan Malaysia Medical Centre (UKMMC) between 2011 and 2018. Direct medical costs of stroke were determined using a top-down costing approach and factors associated with costs were identified. Incremental cost effectiveness ratio (ICER) was calculated to compare the cost-effectiveness between DOACs and warfarin.
RESULTS: The direct medical cost of stroke was MYR 11,669,414.83 (n = 3689). AF-related stroke cases had higher median cost of MYR 2839.73 (IQR 2269.79-3101.52). Regression analysis showed that stroke type (AF versus non-AF stroke) (p = 0.013), stroke severity (p = 0.010) and discharge status (p < 0.001) significantly influenced stroke costs. DOACs were cost-effective compared to warfarin with an ICER of MYR 19.25.
CONCLUSIONS: The direct medical cost of stroke is substantial, with AF-stroke having a higher median cost per stroke care. DOACs were cost effective in the treatment of AF-related stroke in UKMMC.
METHODS: Published literature on multicriteria decision analysis (MCDA) were studied and five sessions of expert group discussions were conducted to build the MAST framework and to review the evidence. The attributes identified and selected for analysis were efficacy (clinical efficacy, clinical endpoints), safety (drug interactions, serious side effects and documentation), drug applicability (drug strength/formulation, indications, dose frequency, side effects, food-drug interactions, and dose adjustments), and cost. The average weights assigned by the members for efficacy, safety, drug applicability and cost were 32.6%, 26.2%, 24.1%, and 17.1%, respectively. The utility values of the attributes were scored based on the published evidence or/and agreements during the group discussions. The attribute scores were added up to provide the total utility score.
RESULTS: Using the MAST, the six statins under review were successfully scored and ranked. Atorvastatin scored the highest total utility score (TUS) of 84.48, followed by simvastatin (83.11). Atorvastatin and simvastatin scored consistently high, even before drug costs were included. The low scores on the side effects for atorvastatin were compensated for by the higher scores on the clinical endpoints resulting in a higher TUS for atorvastatin. Fluvastatin recorded the lowest TUS.
CONCLUSION: The multiattribute scoring tool was successfully applied to organize decision variables in reviewing statins for the formulary. Based on the TUS, atorvastatin is recommended to remain in the formulary and be considered as first-line in the treatment of hypercholesterolemia.
METHODS: DNA were extracted from formalin-fixed, paraffin-embedded tissues obtained from 33 CRC patients diagnosed between 2018 and 2019. Amplifications of codons 12 and 13 of KRAS were conducted using conventional polymerase chain reaction (PCR) followed by Sanger sequencing.
RESULTS: Mutations were identified in 36.4% (12/33) of patients, with G12D (50%) being the most frequent single-point mutation observed, followed by G12V (25%), G13D (16.7%), and G12S (8.3%). No correlation was found between mutant KRAS and location of the tumor, staging, and initial carcinoembryonic antigen (CEA) level.
CONCLUSION: Current analyses revealed that a significant proportion of CRC patients in the East Coast of Peninsular Malaysia have KRAS mutations, where this frequency is higher compared to those in the West Coast. The findings of this study would serve as a precursor for further research that explores KRAS mutational status and the profiling of other candidate genes among Malaysian CRC patients.
AIM: Our objective was to investigate the potential of AOC3 and LRRC17 as biomarkers for fibroblast activation thus predicting their roles in CRC progression.
METHODS: Immunofluorescence (IF) staining of AOC3 and LRRC17 was performed on myofibroblast line (CCD-112CoN), primary fibroblasts from colorectal tumor (CAFs), and adjacent normal tissue (normal fibroblasts-NFs). SW620 (epithelial CRC cell line) was used as a control. Conventional CAF biomarker (alpha-smooth muscle actin - α-SMA) was included in the IF analysis. Fluorescence intensity was compared between groups using ImageJ software. Proliferation and contractility of treated cells were assessed using 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl-2H-tetrazolium bromide (MTT) and collagen gel contraction assays, respectively. Fibroblast contraction under TGF-β1 treatment was compared to those treated with complete medium (addition of 10% serum) and serum free (SF) medium.
RESULTS: Positive AOC3, LRRC17, and α-SMA expression were observed in colonic fibroblasts, more prominent in CAFs, whereas negative staining was found in SW620. Significant downregulation of AOC3, and upregulations in LRRC17 and α-SMA expression was found in TGF-β1-treated fibroblasts compared to SF medium treatment (p-value<0.05). All fibroblasts exhibited higher proliferation in complete medium and under treatment with conditioned medium from SW620 than SF medium. Significant contraction of NFs was recorded in complete medium and TGF-β1 (p-value<0.01).
CONCLUSION: Our results demonstrate AOC3 and LRRC17 as the potential markers of CAF activation which promote CRC progression.
METHODS: This has been achieved by the participation of a prospective cohort involving a total of 90 moderate to severe psoriasis patients, which has been conducted at 5 public hospitals in Malaysia. The main outcome measures have been evaluated via cost and effectiveness psoriasis area severity index (PASI)-75 and/or body surface area (BSA) <5 and/or dermatology life quality index (DLQI) ≤5), estimated from the societal perspective over a 6-months duration. All costs are based on 2015's recorded Malaysian Ringgit (RM) currency.
RESULTS: Consequently, TS has been found to be the most cost-effective treatment with the lowest cost/PASI-75/and/or BSA <5 and/or DLQI ≤5, valued at RM9034.56 (US$2582.55). This is followed by TP, which is valued at RM28 080.71 (US$8026.93) and TB, valued at RM54 287.02 (US$15 518.06). Furthermore, one-way sensitivity analysis has highlighted the cost of medication as the most sensitive parameter.
CONCLUSION: Thus, the input from this study is helpful for policy-makers in determining the first line treatment for moderate to severe psoriasis with consideration of the costs and its effectiveness in Malaysia. This will consequently allow hospitals to justify and provide the essential resources for further research and development, as well as the adoption of better treatment options.
OBJECTIVE: This study aims to measure the economic burden of T2DM as the primary diagnosis for hospitalization from provider's perspective.
METHODS: A retrospective prevalence-based costing study was conducted in a teaching hospital. Financial administrative data and inpatient medical records of patients with primary diagnosis (International Classification Disease-10 coding) E11 in the year 2013 were included in costing analysis. Average cost per episode of care and average cost per outpatient visit were calculated using gross direct costing allocation approach.
RESULTS: Total admissions for T2DM as primary diagnosis in 2013 were 217 with total outpatient visits of 3214. Average cost per episode of care was RM 901.51 (US$ 286.20) and the average cost per outpatient visit was RM 641.02 (US$ 203.50) from provider's perspective. The annual economic burden of T2DM for hospitalized patients was RM 195,627.67 (US$ 62,104) and RM 2,061,520.32 (US$ 654,450) for those being treated in the outpatient setting.
CONCLUSIONS: Economic burden to provide T2DM care was higher in the outpatient setting due to the higher utilization of the health-care service in this setting. Thus, more focus toward improving T2DM outpatient service could mitigate further increase in health-care cost from this chronic disease.
AIMS: This paper aims to describe the profiles of diabetes mellitus type 2 in tertiary setting and to identify the risk factors for high level of HbA1c among the study population. The findings will give a glimpse on current status of diabetes in our country and may reflect the achievement of the country in combating this disease.
SETTINGS AND DESIGN: A cross-sectional study was conducted in UKM Medical Centre.
METHODS AND MATERIAL: Medical records of patient with E11 ICD-10 code were collected using Case Report Form.
STATISTICAL ANALYSIS USED: Descriptive analysis done of mean and median while test of association were done using Spearman correlation and logistic regression.
RESULTS: The results showed that majority of inpatients of DMT2 showed mean age of 58.8 + 12.6 years and most were males (56.7%) with secondary level of education (41.7%). Median duration of disease was 12.0 + 11.0 years with median HbA1c level of 8.9 ± 4.4%. Only small proportion of patients achieved the desired level of HbA1c <6.5% (21.3%) and significant association was found with tertiary level of education [AOR = 0.10, 95%CI = 0.01-0.96] and with type of anti-diabetic therapy [AOR = 15.90, 95%CI=1;2.03-124.30].
CONCLUSIONS: In conclusion, diabetes mellitus type 2 inpatients still showed unsatisfactory glycemic control and holistic approach using health education should be advocated continuously in the future in view of education being one of the predictors for the good HbA1c outcome.