Esha Das Gupta

Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: epidemiology, metabolism and the associated diseases.

The Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism is associated with various diseases (vascular, cancers, neurology, diabetes, psoriasis, etc) with the epidemiology of the polymorphism of the C677T that varies dependent on the geography and ethnicity. The 5,10-Methylenetetrahydrofolate reductase (MTHFR) locus is mapped on chromosome 1 at the end of the short arm (1p36.6). This enzyme is important for the folate metabolism which is an integral process for cell metabolism in the DNA, RNA and protein methylation. The mutation of the MTHFR gene which causes the C677T polymorphism is located at exon 4 which results in the conversion of valine to alanine at codon 222, a common polymorphism that reduces the activity of this enzyme. The homozygous mutated subjects have higher homocysteine levels while the heterozygous mutated subjects have mildly raised homocysteine levels compared with the normal, non-mutated controls. Hyperhomocysteinemia is an emerging risk factor for various cardiovascular diseases and with the increasing significance of this polymorphism in view of the morbidity and mortality impact on the patients, further prevention strategies and nutritional recommendations with the supplementation of vitamin B12 and folic acid which reduces plasma homocysteine level would be necessary as part of future health education. This literature review therefore focuses on the recent evidence-based reports on the associations of the MTHFR C677T polymorphism and the various diseases globally.

Knowledge About Osteoporosis in a Malaysian Population

To determine the depth and sources of knowledge about osteoporosis (OP) among the public in Malaysia. A self-administered questionnaire was distributed to attendees of health-related public forums. A total of 87.1% of the attendees had heard of OP. Of these, 89.5% were concerned about getting OP. Significantly more women than men (P = .015), those with more than 10 years of schooling (P < .001), and those earning more than

Correction: Correlation of serum cartilage oligometric matrix protein (COMP) and interleukin-16 (IL-16) levels with disease severity in primary knee osteoarthritis: A pilot study in a Malaysian population

US285 per month (P = .022) had heard of OP. Knowledge of OP risk factors was good: 97.1% identified low calcium intake, 87.8% lack of exercise, 80.0% family history of OP, and 75.8% postmenopausal status. A total of 38.7% of the attendees thought that OP was more serious than cancer and 35.1% more serious than heart disease; 55.7% obtained information about OP from newspapers and 46.4% from magazines. In this self-selected population, women, the better educated, and those earning higher incomes were more aware of OP. Knowledge of OP was obtained mainly from printed materials.

A survey of the primary care management of osteoarthritis in Malaysia: a view from a rheumatologist's perspective

Objective The aim of this study was to investigate the correlations between serum cartilage oligomeric matrix protein (COMP), interleukin-16 (IL-16) and different grades of knee osteoarthritis (KOA) in Malaysian subjects. Methods Ninety subjects were recruited comprising 30 with Kellgren-Lawrence (K-L) grade 2 KOA, 27 with K-L grade 3 KOA, 7 with grade 4 KOA, and 30 healthy controls. All subjects completed the Western Ontario and McMaster Universities Arthritis Index (WOMAC) questionnaire. Serum COMP and IL-16 levels were measured using ELISA and their values log transformed to ensure a normal distribution. Results There was no significant differences in levels of log serum COMP and IL-16 between healthy controls and KOA patients. There were no significant differences in the log serum COMP and IL-16 levels within the different K-L grades in the KOA patients. In KOA patients, log serum IL-16 levels significantly correlated with the WOMAC score (p = 0.001) and its subscales, pain (p = 0.005), stiffness (p = 0.019) and physical function (p<0.0001). Serum IL-16 levels were significantly higher in Malaysian Indians compared to Malays and Chinese (p = 0.024). Conclusions In this multi-ethnic Malaysian population, there was no difference in serum COMP and IL-16 levels between healthy controls and patients with KOA, nor was there any difference in serum COMP or IL-16 levels across the various K-L grades of KOA. However, there were significant inter-racial differences in serum IL-16 levels.

Effects of 25-hydroxyvitamin D and vitamin D-binding protein on bone mineral density and disease activity in Malaysian patients with rheumatoid arthritis

Objective:  Primary care management of knee osteoarthritis (OA) has received little attention in the scientific literature and the main reason for this survey is to study and explore the variations and patterns of primary care management and assess both conventional and complementary therapy usage in knee OA in the primary care setting.

Clinical significance of SLC2A9/GLUT9 rs11722228 polymorphisms in gout.

Vitamin D3 [25(OH)D] has been shown to be important in bone health and can influence rheumatoid arthritis (RA) disease activity. Vitamin D‐binding protein (VDBP) levels vary with race and may modulate ‘bioavailable’ levels of 25(OH)D. The aim of this study was to explore the relationships between 25(OH)D, VDBP and clinical factors on bone mineral density (BMD) in a group of multi‐ethnic Malaysian RA patients and healthy controls.

Myocardial infarction false alarm: Initial electrocardiogram and cardiac enzymes

The main objective of this study is to elucidate the clinical significance of the SLC2A9/GLUT9 rs11722228 polymorphism among male gout patients.

Osteoporosis awareness among primary care physicians in Malaysia

Objective The objectives of this study were to determine the incidence of a myocardial infarction “false alarm” and evaluate the efficacy of the initial electrocardiogram and cardiac enzymes in diagnosing myocardial infarction in Malaysia. Methods We recruited patients who were admitted with suspected myocardial infarction from June to August 2008. The medical records of these patients were reviewed for the initial electrocardiogram, initial cardiac enzyme levels (creatinine kinase-MB and troponin T), and the final diagnosis upon discharge. The subjects were stratified into 2 groups: true myocardial infarction, and false alarm. Results 125 patients were enrolled in this study. Following admission and further evaluation, the diagnosis was revised from myocardial infarction to other medical conditions in 48 (38.4%) patients. The sensitivity and specificity of the initial ischemic electrocardiographic changes were 54.5% and 70.8%, respectively. Raised cardiac enzymes had a sensitivity of 44.3% and specificity of 95.8%. Conclusion A significant proportion of patients in Malaysia are admitted with a false-alarm myocardial infarction. The efficacy of the electrocardiogram in diagnosing myocardial infarction in Malaysia was comparable to the findings of Western studies, but the cardiac enzymes had a much lower sensitivity.

Recurrent monoarthritis with tender erythematous nodules in a 28-year-old man: a diagnostic dilemma

Dear Editor, Primary care physicians (PCPs) play a crucial role in the prevention, screening and treatment of osteoporosis (OP). A recently published Asian study (Choi et al., 2012) pointed out an alarmingly low rate of diagnosis (26.2 %) and treatment (12.8 %) of OP. In order to overcome and minimise the socioeconomic burden of osteoporotic fractures, much emphasis has to be placed on boosting the knowledge and improving the standard of care of OP in the primary care setting; the frontline healthcare providers. Several western studies have examined the knowledge of PCPs on OP. Unfortunately, there is paucity of data in this regard from Asian countries. This prompted us to conduct a survey among the PCPs in Malaysia. A self-administered questionnaire about OP knowledge and management were distributed to Malaysian PCPs who were attendees of a Rheumatology Workshop conducted in Malaysia. There were 134 respondents in total. Those who had qualified as PCPs between 5 to 10 years and over 10 years were more likely to treat OP (p = 0.013) compared to those with below 5 years of working experience as PCPs. Up to 63.4 % of the respondents were aware of the Malaysian Clinical Practice Guidelines for the treatment of OP and made use of it in their day to day clinical practice. There was no correlation between the awareness of OP treatment and the tendency to treat OP (p = 0.39). This finding could be partially explained by the limited access to bone mineral density measurement with dual-energy x-ray absorptiometry (DXA). Only 27.6 % of the respondents had access to bone density measurement with DXA. The vast majority of the respondents (82.1 %) felt that OP was under-diagnosed. A similar survey which was conducted in Germany found that 51.7 % (461/892) of their general practitioners were aware of the national OP guidelines, but a lower percentage (43 %) followed it in their practice (Chenot et al., 2007). Studies from other parts of the world showed that the unawareness of the local osteoporosis guidelines among the PCPs were between 35.3 % (Canada) and 58 % (England) (Taylor et al., 2001; Jaglal et al., 2003). In contrast to our findings, Werner and Vered (2002) reported that the more junior doctors displayed a higher level of knowledge. A Spanish study (Pérez-Edo et al., 2004) stated that only 27.8 % of their primary care doctors could order bone densitometry; a figure …

Predictors of frequent oral analgesic use in rheumatoid arthritis.

In this work, we isolated and characterized the first factor X activator from Bothropoides jararaca (= Bothrops jararaca ) venom, Bojaractivase X, which is probably involved in the genesis of the envenomation process. Bojaractivase X was purified by a combination of gel filtration and ion exchange chromatographies on Superdex HR 75 10/30 and HiTrap SP FF, respectively. Bojaractivase X consists of a single polypeptide chain with molecular mass of 28 kDa determined by SDS-PAGE. The enzyme shows maximum activity on factor X activation at pH 7.0 and 37°C. The activator converts factor X to its active form, factor X a , in the presence of Ca 2+ ions. Bojaractivase X also degrades the Aα, Bβ and γ -chain of fibrinogen molecule as well as casein. Inhibition of Bojaractivase X amidolytic activity by benzamidine suggests that it is a serine proteinase. Mass spectrometry analysis showed similarity between Bojaractivase X and a venom serine protease homolog from B. jararacussu .C. parapsilosis and C. orthopsilosis emerged as fungal pathogen with significant worldwide prevalence, particularly in causing nosocomial and skin infections. In this study, we aimed to develop molecular assay based on real-time PCR for sensitive and accurate detection of C. parapsilosis and C. orthopsilosis . A pair of primers that specifically target on both of these yeast species was designed and real-time PCR amplification assay was optimized using EvaGreen as the DNA binding dye. The optimized assay could detect and quantify up to 1 pg concentration of C. parapsilosis and C. orthopsilosis DNA with amplification efficiency of 104% and 103%, respectively. Both the designed primers and the quantitative assay will have a great potential as molecular diagnosis tool for early detection of fungal infection caused by either C. parapsilosis or C. orthopsilosis , which merits future clinical study prior to use in diagnosis.Sirenomelia or the “mermaid syndrome” is a rare entity. Malformations of almost every system have been reported in sirenomelia and it is invariably incompatible with survival; most babies are stillborn, or die shortly after birth. Isolated levocardia is an extremely rare condition in which the heart is located in the normal position while abdominal viscera are inverted .We report a case of symelia unipus having situs inversus of abdominal viscera with isolated levocardia, a ventricular septal defect, bilateral genitourinary agenesis and thoracic vertebral defects.[Abstract] Objective To explore the expression of IL-27, Th17 cells and their related cytokines IL- 17 in peripheral blood of patients with allergic rhinitis (allergic rhinitis, AR). Method 18 Cases of allergic rhinitis patients (10 males, 8 females) whose allergen was dust mite were collected from April to June 2012 as the AR group, and 10 cases of healthy volunteers (4 males, 6 females) without allergic diseases were put into the control group. IL-27 and IL-17 levels in serum of peripheral blood of the two groups were detected by ELISA, and the percentage of Th17 cell was detected by flow cytometry. Result IL-27 levels of AR group and control group were (21.69 ± 12.62) pg / ml and (53.10 ± 12.55) pg / ml respectively, and the difference was statistically significant (P <0.01); IL-17 levels of AR group and control group were (672.82±63.45) pg / ml and (576.62±22.81) pg / ml respectively, and the difference was statistically significant (P <0.01); Th17 cell percentage of AR group was 1.76 ± 0.60%, and in the control group it was 0.59 ± 0.17%. The difference between the two groups was statistically significant (P <0. 01). IL-27 was negatively correlated to Th17 cell and IL-17 (r was -0.361 and -0.435 respectively, P <0 05). Conclusion The reduction of IL-27 level in the peripheral blood of patients with allergic rhinitis, the increase of Th17 cells percentage and IL-17 level, as well as the negative correlation of IL-27 with Th17 cell and IL-17 suggest that decline of IL-27 suppression to Th17 cell may play an important role in the pathogenesis of allergic rhinitis.