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  1. A novel pathogenic variant of the LDLR gene in the Asian population and its clinical correlation with familial hypercholesterolemia
    Chahil JK, Lye SH, Bagali PG, Alex L
    Mol Biol Rep, 2012 Jul;39(7):7831-8.
    PMID: 22544571 DOI: 10.1007/s11033-012-1626-8
    Familial hypercholesterolemia (FH) is a disease implicated with defects in either, Low density lipoprotein receptor gene (LDLR), Apolipoprotein B-100 gene (APOB), the Proprotein convertase subtilisin/kexin type 9 gene (PCSK9) or other related genes of the lipid metabolism pathway. The general characterization of heterozygous FH is by elevated low-density lipoprotein (LDL) cholesterol and early-onset cardiovascular diseases, while the more severe type, the homozygous FH results in extreme elevated levels of LDL cholesterol and usually death of an affected individual by early twenties. We present here a novel non-synonymous, missense mutation in exon 14 of the LDLR gene in two siblings of the Malay ethnicity discovered during an in-house genetic test. We postulate that their elevated cholesterol is due to this novel mutation and they are positive for homozygous FH. This is the first report of a C711Y mutation in patients with elevated cholesterol in Asia.
  2. Fulltext Evaluation of quality of DNA extracted from buccal swabs for microarray based genotyping
    Livy A, Lye S, Jagdish CK, Hanis N, Sharmila V, Ler LW, et al.
    Indian J Clin Biochem, 2012 Jan;27(1):28-33.
    PMID: 23277709 DOI: 10.1007/s12291-011-0154-y
    Buccal cell usage has been shown by many to be a cost effective and safe method to isolate DNA for various biological experiments especially large epidemiological studies (Garcia-Closas et al. Cancer Epidemiol Biomarkers Prev 10:687-696, 2001). Non-invasive DNA collection methods are preferred over phlebotomy in order to increase study participation and compliance in research centers and for sick patients in hospital settings. There have been conflicting reports about the methodology and results obtained from using buccal DNA. It is not very clear if phlebotomy can be confidently replaced by buccal cell DNA. It is often left for the user to take an intelligent decision. To address this issue, we compared the performance of buccal and blood DNA from same subjects in a genotyping experiment and this paper reports the results. Cotton swab derived buccal cells were scraped from the inner side of cheeks from 16 subjects, and blood was also drawn from the same 16 subjects participating in a genotypic association study of a lipid disease. The DNA quality was assessed by resolving on agarose gels, checking purity (A260/A280) and finally by microarray hybridization. This study showed that DNA degradation affects the total yield and performance of the buccal DNA when compared to the blood DNA in microarray based genotyping. Genotyping results can be seriously compromised if care is not taken to check the quality and yields of such specimens.
  3. Fulltext Continuous spinal anaesthesia: A retrospective analysis of 318 cases
    Beh ZY, Au Yong PS, Lye S, Eapen SE, Yoong CS, Woon KL, et al.
    Indian J Anaesth, 2018 Oct;62(10):765-772.
    PMID: 30443059 DOI: 10.4103/ija.IJA_387_18
    Background and Aims: Continuous spinal anaesthesia (CSA) is an underutilised anaesthetic technique. Our objectives were to evaluate the use of CSA in our institution, its efficacy, ease to use and safety.

    Methods: This was a retrospective analysis conducted in a tertiary centre. Records of all patients who underwent surgery and received CSA between December 2008 and July 2017 were reviewed. Their demographic profiles, type and duration of surgery were analysed. The outcomes measured were the success of CSA, technical evaluation and difficulties encountered, intraoperative haemodynamics, usage of vasopressors and any reported complications. Statistical analysis was done using Chi-square test.

    Results: Three hundred and eighteen patients (94%) successfully underwent surgery using CSA. Twenty cases (6%) had failed CSA, of which five of them had CSA insertion failure, while the rest failed to complete the operation under CSA, thus requiring conversion to general anaesthesia. Patients who have had an initial intrathecal local anaesthetic (LA) volume ≥1.5 ml had higher odds (odds ratio (OR) 2.78; 95% confidence interval [CI], 1.70-4.57) of developing hypotension compared to those who had <1.5 ml (P < 0.001). There were no reported post-dural puncture headache, neurological sequelae or infection.

    Conclusion: CSA is a useful anaesthetic technique with low failure rate. The key to achieving haemodynamic stability is by giving a small initial bolus, then titrating the block up to required height using aliquots of 0.5 ml of intrathecal LA through the catheter.

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