Medicine
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This repository contains the published and unpublished research of the Faculty of Medicine by the staff members of the faculty
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Item 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.Item Rate of stunting among a sample of postwar resettled families in the Vanni region: a study from the Mullativu District(Sri Lanka Medical Association, 2013) Ramanayake, R.P.J.C.; Sumanasekera, R.D.N.; de Silva, A.H.W.; Perera, D.P.; Chandrasiri, P.; Gunasekera, R.; Jayasinghe, L.R.The Department of Family Medicine, University of Kelaniya conducted a health camp in Puthukudiyiruppu in March 2011. Height and weight measurements were carried out and data of 303 participants were analysed. The rate of stunting among children below six years in this population was 62% compared to 19.3% nationally. Thirty four percent of children and adolescents (6-18yrs) were underweight and 21.4% of adults had a BMI less than 18.5kg/m2.Item Knowledge of location of organs in the body among patients attending a university family practice in Sri Lanka(2013) Ramanayake, J.; Perera, D.; de Silva, A.; Sumanasekera, D.; Jayasinghe, L.R.; Gunasekera, R.; Chandrasiri, P.Introduction: The referral letter is the interface between the primary and secondary/tertiary levels of care. It facilitates the referral process and is beneficial for optimizing patient care. In Sri Lanka a referral letter is not essential to consult a Specialist. In this scenario, the quality as well as the number of referral letters encountered in practice needed to be explored. Objectives: To describe Specialists' views on the quality of referral letters received, perceived advantages of referral letters and to identify other modes of communication between General Practitioners and Specialists. Methods: Conducted in 2013, this study consisted of in-depth interviews using a semi-structured format, with 21 purposively selected Specialists representing a range of specialties. They included clinicians and university academics from both the government and the private sector. Analysis was by generating a thematic framework based on the recurrent themes and issues which was then applied to the textual data. Results: Most patients consulted Specialists without a referral letter and also the few letters received were of poor clarity, lacking important information and scribbled in illegible hand. Main themes identified as advantages of referral letters were: impart important information about the patient, clear description of the initial condition and treatment given, reduced consultation time, prevents delays in diagnosis and reduced healthcare costs by reducing polypharmacy and repetition of investigations. Some of the other modes of communication suggested by Specialists were via telephone, SMS, fax and email. Conclusions: The general belief amongst Specialists is that referral letters are an important part of the patient care system. This has not been adequately utilized by the primary care providers in Sri Lanka, despite the numerous advantages described. Also consideration needs to be given to newer modes of emerging information communication technology