BACKGROUND: The interaction of the non-deletional α(+)-thalassaemia mutations Haemoglobin Constant Spring and Haemoglobin Quong Sze with the Southeast Asian double α-globin gene deletion results in non-deletional Haemoglobin H disease. Accurate detection of non-deletional Haemoglobin H disease, which is associated with severe phenotypes, is necessary as these mutations have been confirmed in the Malaysian population.
METHODS: DNA from two families with Haemoglobin H disease was extracted from EDTA-anticoagulated whole blood and subjected to molecular analysis for α-thalassaemia. A duplex polymerase chain reaction was used to detect the Southeast Asian α-globin gene deletion. Polymerase chain reaction-restriction fragment length polymorphism analysis was then carried out to determine the presence of Haemoglobin Constant Spring and Haemoglobin Quong Sze. A combine-amplification refractory mutation system protocol was optimised and implemented for the rapid and specific molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze in a single polymerase chain reaction.
RESULTS AND CONCLUSIONS: The combine-amplification refractory mutation system for Haemoglobin Constant Spring and Haemoglobin Quong Sze, together with the duplex polymerase chain reaction, provides accurate pre- and postnatal diagnosis of non-deletional Haemoglobin H disease and allows detailed genotype analyses using minimal quantities of DNA.
KEYWORDS: Combine-ARMS; Hb Constant Spring; Hb Quong Sze; medical sciences
Systemic Lupus Erythematosus (SLE) is a clinically heterogeneous autoimmune disease with strong genetic and environmental components. Our objective was to replicate 25 recently identified SLE susceptibility genes in two distinct populations (Chinese (CH) and Malays (MA)) from Malaysia. We genotyped 347 SLE cases and 356 controls (CH and MA) using the ImmunoChip array and performed an admixture corrected case-control association analysis. Associated genes were grouped into five immune-related pathways. While CH were largely homogenous, MA had three ancestry components (average 82.3% Asian, 14.5% European, and 3.2% African). Ancestry proportions were significantly different between cases and controls in MA. We identified 22 genes with at least one associated SNP (P < 0.05). The strongest signal was at HLA-DRA (P Meta = 9.96 × 10(-9); P CH = 6.57 × 10(-8), P MA = 6.73 × 10(-3)); the strongest non-HLA signal occurred at STAT4 (P Meta = 1.67 × 10(-7); P CH = 2.88 × 10(-6), P MA = 2.99 × 10(-3)). Most of these genes were associated with B- and T-cell function and signaling pathways. Our exploratory study using high-density fine-mapping suggests that most of the established SLE genes are also associated in the major ethnicities of Malaysia. However, these novel SNPs showed stronger association in these Asian populations than with the SNPs reported in previous studies.
Hyperosmolar hyperglycaemic state (HHS) is a medical emergency which needs immediate medical intervention. A 37-year-old Chinese woman with a history of hypertension attended the Emergency Department. She had a two-day history of involuntary movement, i.e. chorea of the upper limbs, preceded by a one-week history of upper respiratory tract infection. She also had polyuria and polydipsia, although she was never diagnosed as diabetic. The main aim of reporting the present case was to highlight the importance of biochemical investigations involved in the diagnosis of involuntary movements.
Study site: emergency department, Pusat Perubatan Universiti Kebangsaan Malaysia (PPUKM)
OBJECTIVES: To evaluate the trends of disease-modifying anti-rheumatic drugs (DMARDs) used in the treatment of rheumatoid arthritis (RA).
METHODS: Patients who fulfilled the ACR criteria for RA from 1995 to 2006 and who attended the Rheumatology clinic at Ipoh Hospital were selected and their records were evaluated to determine the changing trends in the use of DMARDs.
RESULTS: 128 patients with RA were identified. The most commonly prescribed DMARD as monotherapy was sulphasalazine (47.7%), followed by methotrexate (35.9%) and hydroxychloroquine. Methotrexate and sulphasalazine were the most frequently prescribed DMARDs, of which the use of methotrexate has increased 6 folds from 1997 to 2007 and the use of sulphasalazine remains around 30% to 50%. The combination of methotrexate with leflunomide has significantly increased in usage by 4 folds during the study period whilst methotrexate with sulphasalazine combination usage had slightly declined.
CONCLUSION: DMARDs are still the cornerstone in the treatment of RA. Changes in the trend and aggressive use of DMARDs has been markedly influenced by the patient's awareness of early treatment, the incapacitating damage, availability of recently introduced leflunomide and the advancement of current recommended treatment protocol.
Study site: Rheumatology clinic, Hospital Raja, Parmaisuri Bainum (HRBP), Ipoh, Perak, Malaysia
The "golden ratio" is considered as a universal facial aesthetical standard. Researcher's opinion that deviation from golden ratio can result in development of facial abnormalities.
Two hundred and seventy patients with schizophrenia (104 patients in Kelantan and 166 patients in Penang) were interviewed using the Present State Examination to elicit the differences in the phenomenology of their hallucinations. The results indicate that there are significant differences in the phenomenology of hallucinations between the Malays of Penang and Kelantan and also among some Chinese patients. These findings indicate that culture does affect the phenomenology of schizophrenia, even among people of the same race but of different regions.
200 doctors are gazetted as practising in Sarawak in 1982. 88% are males and only 12% are females. Of the 200, 65.5% are Chinese and the natives of Sarawak and Indians form 15.5% each. Nearly 30% are graduates from local universities, 44% from universities in Commonwealth countries and a few from universities in other countries. The majority of the doctors are under 40 years of age. 55 % are in government service, while 45% are in the private sector. All private practices are solo practices except three-one each in Kuching, Sibu and Miri which are based on partnership. The number of doctors with specialist qualifications is not known as it is not essential for these qualifications to be entered in the Register. The doctor-to-population ratio in Sarawak has improved from 1:14000 in 1964 to 1:6856 in 1982. To reach the Ministry of Health's target of 1:2500 by 1990, a yearly recruitment of 58 doctors would be needed from 1983 to 1990. This would be feasible if either an admission quota to the local medical faculties for Sarawakians is implemented or more doctors are posted to serve in Sarawak.
Background: Systemic lupus erythematosus (SLE) is a chronic disease of autoimmune nature. Genetic pre-disposition has been known to play a role. With a number of genes already named, the IL-RA is no exception. Polymorphism in the human cytokine gene, an uncommon allele of a variable repeat polymorphism in intron 2 of the IL1-RA gene has been found to be associated with SLE. Objective: The aim of this present study was to study the polymorphism of the IL-1RA gene in Malay and Chinese SLE patients and to investigate the possible contribution of the IL-RA gene polymorphism in disease susceptibility. Materials and Methods: We thus investigated the allele frequencies of the IL-RA gene polymorphism in 87 Malay and 100 Chinese SLE population at the Hospital of National University of Malaysia, Kuala Lumpur by PCR and direct analysis by electrophoresis on agarose gel. Unrelated healthy ethnically-matched individuals were taken as controls. Results: Allelic frequencies of the IL1-RN*4 were most dominant in all groups (patients and controls) but there was no significant differences among them. We found an increased allelic frequency and carriage rate of the IL1-RN*2 repeat in both the Malay and Chinese SLE cases compared to controls. However they were not statistically significant. Conclusion: Thus from this finding we postulate that the polymorphism of the IL-1RA gene (both alleles 2 and 4) does not influence susceptibility to SLE.