Browsing by Author "Jayathilake, M."

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    Hyperhomocysteinaemia in Sri Lankan patients with coronary artery disease
    (Sri Lanka Medical Association, 2002) Mendis, S.; Ranatunga, P.; Jayathilake, M.; Wanninayake, S.; Wickremasinghe, R.
    OBJECTIVE: To determine the association between hyperhomocysteinaemia and coronary artery disease (CAD) in a sample of Sri Lankans. DESIGN: A case control study. SETTING: Asiri Hospital, Kirula Road, Colombo 5, Sri Lanka. SUBJECTS: 105 patients with coronary artery disease and 112 controls. METHOD: Fasting serum homocysteine levels were measured in 105 patients diagnosed as having CAD and in 112 unmatched controls. All patientsadmitted with clinical, electrocardiographical, biochemical or echocardiographical evidence of CAD were included in the study. Controls were selected from subjects admitted for health screening. RESULTS: 105 patients with CAD and 112 controls (unmatched for age and sex) were studied. A serum homocysteine level in excess of 18.2 mumol/l was considered high. Confounding effects of other conventional risk factors for CAD were controlled using multivariate logical regression analysis. CONCLUSION: Hyperhomocysteinaemia is significantly associated with CAD. Multivariate logistic regression analysis indicated that the association between hyperhomocysteinaemia and CAD was confounded by other risk factors. However, statistical analysis revealed a significant independent association between hyperhomocysteinaemia and CAD (adjusted odds ratio = 2.881).
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    Molecular diagnosis of Velocardiofacial Syndrome in a cohort of Sri Lankan patients
    (Sri Lanka Medical Association, 2014) Thevarajan, I.; Ranaweera, D.M.; de Silva, D.; Prabodha, L.B.L.; Gunasekera, R.; Dias, D.K.; Nanayakkara, B.G.; Basnayake, S.; Jayathilake, M.; Chandrasekharan, N.V.
    INTRODUCTION AND OBJECTIVES: Velocardiofacial Syndrome (VCFS) is caused by a 3 Mb deletion encompassing around 40 genes on chromosome 22qll.2. It is characterised by variable features including congenital malformations of the palate and heart, growth and developmental delay, immunological anomalies, hypocalcaemia and other problems. Clinical diagnosis is difficult due to its variability within and between families. Early diagnosis enables appropriate management of the affected cases. Objective was to establish a reliable and cost effective molecular diagnostic test for VCFS. METHODS: Nineteen clinically suspected patients with palatal and facial features suggestive of VCFS from Lady Ridgeway Hospital, Colombo and the Teaching hospital, Karapitiya were recruited following informed consent and prior ethical clearance. A semi-quantitative multiplex poiymerase chain reaction (PCR) was established to identify the deletion using dosage analysis. The PCR assay was carried out using DNA from patients (P), unaffected person (N) and a positive control (with a FISH confirmed deletion} using STS markers within the deleted region and CFTR (Cystic Fibrosis Transmembrane Regulatory Conductance) control primers outside the deleted region. Following agarose gel electrophoresis the PCR products were quantified. A ratio of P: N of 0.5 was taken to indicate a deletion while a ratio of 1 indicated absence of the deletion. RESULTS: Among nineteen clinically suspected VCFS cases, five cases had the deletion. CONCLUSIONS: This semi-quantitative PCR assay was able to identify.deletions in clinically suspected patients. However further validation is required before its clinical usage.