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Real-time quantification for BCR-ABL transcripts in chronic myeloid leukaemia patients in UKMMC, Malaysia

Wong FL, Hamidah NH, Hawa AA, Nurul AN, Leong CF, Saw F, et al.

Malays J Pathol, 2011 Dec;33(2):107-12.
PMID: 22299211

Molecular pathogenesis of chronic myeloid leukemia (CML) is well established and molecular monitoring for patients with CML has become an important practice in the management of patients on imatinib therapy. In the present study, we report the use of RQ-PCR method for detection of BCR-ABL fusion gene for our CML cases. We performed a two-step RQ-PCR on bone marrow aspirates or peripheral blood of 37 CML patients. Quantitative expression of BCR-ABL fusion gene was carried out relative to the expression of a housekeeping gene as endogenous control to compensate for uneven cell numbers, RNA quality, or variations in reverse transcription efficiencies. Twenty-four of these patients were pre-treated with hydroxyurea or alpha interferon prior to the imatinib therapy. Their BCR-ABL fusion gene levels were monitored for 18 months. All samples processed were evaluable. The PCR amplification efficiency of the ABL gene is 90.5% (0.2158) and the BCR-ABL gene, 93.4% (0.1573).
Fulltext Autonomy to refuse: please doctor, I want to fast, I don't want my medications

Kumurasamy V, Ahmad Fairuz M, Taib F, Mat Pa MN, Mohd Nazri S, Norzila Z, et al.

Education in Medicine Journal, 2014;6(1):66-69.
MyJurnal

This paper discusses the ethical issues of patient autonomy based on a case of a patient who refused medication during Ramadhan fasting period. Issues on patient autonomy include the right of a patient to refuse medication, informed decision making, the importance of effective communication and the physician roles and responsibilities are discussed. In conclusion, patient autonomy must be respected and valued. However, the need of effective communication in facilitating informed decision making to improve doctor-patient relationship, should not be overlooked and compromised.
Fulltext Prevalence and associated factors of lipohypertrophy in insulin-injected patients with diabetes in selected primary care clinics in Peninsular Malaysian: A cross-sectional study

Hawa A, Teng CL, Devaraj NK, Saadatun A, Rawaida AL, Chong FY, et al.

Malays Fam Physician, 2023;18:37.
PMID: 37449277 DOI: 10.51866/oa.100

INTRODUCTION: This study aimed to determine the prevalence and associated factors of lipohypertrophy in insulin-injecting patients with diabetes at selected primary care clinics in Malaysia.
METHOD: This cross-sectional study was conducted among adults aged ≥18 years with type 1 or 2 diabetes treated with insulin for at least 6 months at six selected public primary care clinics in Malaysia. The Injection Technique Questionnaire was used, and physical examination was conducted to detect the presence of lipohypertrophy. Univariate and multivariate logistic regression analyses were conducted using IBM SPSS version 26.
RESULTS: A total of 506 patients with type 2 diabetes were included in this study; of them, 60.47% were women, and 48.42% were Malays. The prevalence of lipohypertrophy was 39.6% (95% Confidence Interval, CI =35%-44%). The univariate analysis revealed that a larger number of injections per day, longer needle length, repeated use of needles, incorrect rotation of the injection site, longer insulin use duration, higher total insulin dose and higher HbA1c level were significantly associated with lipohypertrophy. In the multivariate logistic regression analysis, incorrect rotation of the injection site was the only independent associated factor of lipohypertrophy.
CONCLUSION: The prevalence of lipohypertrophy in this study is comparable with that in other studies. The identified associated factors of lipohypertrophy must be addressed in ongoing health education for insulin-injecting patients at Malaysian primary care clinics. Educating healthcare professionals and increasing awareness among patients with diabetes are important steps in preventing this complication.
Genotyping of Malaysian G6PD-deficient neonates by reverse dot blot flow-through hybridisation

Alina MF, Azma RZ, Norunaluwar J, Azlin I, Darnina AJ, Cheah FC, et al.

J Hum Genet, 2020 Mar;65(3):263-270.
PMID: 31863082 DOI: 10.1038/s10038-019-0700-7

G6PD deficiency is the commonest enzyme deficiency found in humans. Current diagnostic methods lack sensitivity to detect all cases of G6PD deficiency. We evaluated the reverse dot blot flow-through hybridisation assay designed to detect simultaneously multiple known G6PD mutations in a group of Malaysian neonates. Archival DNA samples from 141 G6PD-deficient neonates were subjected to reverse dot blot flow-through hybridisation assay using the GenoArray Diagnostic Kit (Hybribio Limited, Hong Kong) and DNA sequencing. The method involved PCR amplification of 5 G6PD exons using biotinylated primers, hybridisation of amplicons to a membrane containing oligoprobes designed for G6PD mutations known to occur in the Malaysian population and colour detection by enzyme immunoassay. The assay detected 13 of the 14 G6PD mutations and genotyped 133 (94.3%) out of 141 (102 males, 39 females) cases. Among the 39 female G6PD-deficient neonates, there were 7 homozygous and 6 compound heterozygous cases. The commonest alleles were G6PD Viangchan 871G > A (21%) and G6PD Mahidol 487G > A(20%) followed by G6PD Mediterranean 563C > T, (14%), G6PD Vanua Lava 383T > C (12%), G6PD Canton 1376G > T (10%), G6PD Orissa 131C > G (6.3%) G6PD Coimbra 592C > T (5.6%) plus 6 other mutations. DNA sequencing of remaining cases revealed 6 cases of intron 11 nt 93C > T not previously reported in Malaysia and two novel mutations, one case each of nt 1361G > T and nt 1030G > A. We found the reverse dot blot assay easy to perform, rapid, accurate and reproducible, potentially becoming an improved diagnostic test for G6PD deficiency.
Correction to 'Genotyping of Malaysian G6PD-deficient neonates by reverse dot blot flow-through hybridisation'

Alina MF, Azma RZ, Norunaluwar J, Azlin I, Darnina AJ, Cheah FC, et al.

J Hum Genet, 2020 07;65(7):635.
PMID: 32385338 DOI: 10.1038/s10038-020-0766-2

An amendment to this paper has been published and can be accessed via a link at the top of the paper.