Journal/Magazine Articles
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This collection contains original research articles, review articles and case reports published in local and international peer reviewed journals by the staff members of the Faculty of Medicine
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Item Development of a low cost semiquantitative polymerase chain reaction assay for molecular diagnosis of williams syndrome(Clinical Laboratory Publications, 2024) Ranaweera, D.M.; de Silva, D.C.; Samarasinghe, D.; Perera, S.; Kugalingam, N.; Samarasinghe, S.R.; Madushani, W.Y.; Jayaweera, H.H.E.; Gunewardene, S.; Muneeswaran, K.; Gnanam, V.S.; Chandrasekharan, N.V.BACKGROUND: Williams Beuren Syndrome (WBS) is a well-recognized and common genetic cause of congenital heart defects, developmental delay, hypercalcemia, and characteristic facial features. It is caused by a 1.5 - 1.8 Mb heterozygous deletion of chromosome 7q11.23 with loss of around 28 coding genes. The aim of this study was to develop a low-cost, semi-quantitative PCR (sqPCR) method to detect the chromosome 7q11.23 deletion. METHODS: Twenty-four suspected WBS cases were recruited following ethical clearance and informed consent. Blood was obtained, DNA extracted and spectrophotometrically quantified using standard methods. To detect the deletion by dosage analysis, a target region within a gene located in the WBS commonly deleted region of 7q11.23 was amplified together with a control region in a duplex sqPCR assay. The control region was telomeric to the WBS commonly deleted region and was located in chromosome 7q31.2. The two target regions within the deleted region namely a locus within ELN and a marker in the intergenic region between FZD9 and FKBP6 and designated IFF, were amplified in separate duplex sqPCR assays. The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene was used as the control for normalization. Included in the assay were a non-deleted and deleted individuals' samples. RESULTS: Nineteen patients were identified to have the deletion while five did not. All 24 patients' results were confirmed by whole exome sequencing and 11 also by fluorescence in-situ hybridization (FISH). CONCLUSIONS: The data obtained indicates the sqPCR assay developed in this study to be an accurate and reliable diagnostic test for WBS. Most Sri Lankan patients with WBS are diagnosed clinically, as many parents of affected WBS children are unable to afford currently available molecular diagnostic testing. This low cost sqPCR test is therefore likely to benefit Sri Lankan WBS patients, by enabling genetic testing for confirming or refuting a clinical diagnosis of WBS and may be of use in other low and middle income countries.Item Survey on the psychosocial impact of COVID-19 on the Sri Lankan mental healthcare system and the needs of frontline healthcare workers in the post-covid era(Sri Lanka Medical Association, 2023) Wijesinghe, C.; Chandradasa, M.; Ranwella, P.; Samaranayake, A.; Wickrama, P.; Gamage, N.; Siriwardane, G.; Goonathilake, N.; Perera, S.; Dahanayake, D.; Mendis, J.; Kapila, R.INTRODUCTION: The COVID-19 pandemic severely strained the health care in Sri Lanka. The subsequent economic crisis compounded this issue. Priority was given to treating those afflicted with COVID-19 and preventing its spread, and healthcare staff faced immense difficulties dealing with the situation. The psychosocial impact of COVID on health care staff has not been properly assessed or addressed. OBJECTIVES: A study was conducted to identify the psychosocial impact of COVID-19 among four different categories of health care workers, and perform a needs assessment among these groups. METHODS: A convenient sample of frontline health workers, mental health teams, 1926 mental health helpline workers and 1990 Suwa Sariya emergency ambulance service staff were assessed via a self-administered questionnaire for mental health impact, work capacities and needs. RESULTS: Among frontline workers (n=188), 42.5% experienced anxiety symptoms, 12.8% depressive symptoms and 4.1% suicidal thoughts. Most (58.9%) lacked a psychological support system at the workplace. Only 20% have accessed specific programs or services at their workplace to obtain support for mental health issues, and all have benefitted from them. All categories of health workers lacked training and resources. CONCLUSION: The findings demonstrate that a significant amount of health care workers undergo psychological problems in the course of their work especially in the aftermath of the COVID-19 pandemic. The analysis reveals that Sri Lanka lacks structured psychological support systems for health workers and needs more resources and training. Psychological support for health workers through strengthening resources and training should be prioritised when planning service development.Item Pitfalls in the diagnosis of β-Thalassemia Intermedia(Informa Healthcare, 2021) Perera, S.; Allen, A.; Rees, DC.; Premawardhena, A.We present case histories of three patients who had β-thalassemia (β-thal) trait with 'unusual severity' managed as β-thal intermedia (β-TI) where the basis of disease severity could not be explained with routine hematological and genetic investigations. The clinical diagnosis of 'thalassemia intermedia' was justifiable as they had a β-thal mutation and disease severity that did not fit in with either β-thal trait or with β-thal major (β-TM). As mutations of α, β, and γ genes could not explain the unusual severity of the disease, further analysis with next-generation sequencing (NGS) for red cell diseases was carried out, which led to the diagnosis of coexisting membranopathies. This case series highlights the inherent difficulty in the diagnosis of β-TI with certainty in some patients where the genetic basis is not clear-cut.Item Psychological wellbeing and mental health amongst medical undergraduates: A descriptive study assessing more than 1,000 medical students in Sri Lanka(London Avenue Publishing Co, 2022) Dahanayake, D.; Rajapakse, H.; Wickramasinghe, A.; Chandradasa, M.; Rohanachandra, Y.; Perera, S.; Nillo, A.M.; Molodynski, A.BACKGROUND: Studies from around the world have shown higher rates of anxiety, depression, alcohol and other drug use, and burnout in medical students. AIMS: The aim of this study was to identify the socio-demographic factors and severity of difficulties Sri Lankan medical students face regarding psychological wellbeing and burnout. METHOD: This one-off survey used a cross-sectional design, assessing substance use, psychological wellbeing, and burnout using the CAGE, GHQ-12, and OLBI. The survey was open to all medical students in six universities in Sri Lanka. Chi-square analysis was used to assess the statistical significance related to categorical dependent variables and one-way ANOVA for continuous dependent variables. RESULTS: A higher prevalence of diagnosed mental health conditions was found following admission to the medical course in comparison prior to admission. Sixty-two percent of students had a score of more than 2 on the GHQ-12 indicating caseness. The OLBI identified exhaustion in 79% of students. The CAGE questionnaire was positive in 4.8% of students. CONCLUSIONS: Only a small proportion of students are recognizing their mental health difficulties and seeking help. Further understanding is required as to why this is, as well as re-evaluation of the demands of the curriculum. Effective ways of regularly identifying and providing practical and evidence-based support for mental health problems in medical and other undergraduates need to be identified and introduced. KEYWORDS: Sri Lanka; Wellbeing; burnout; medical students.Item Transfusion-transmitted Hepatitis C: A cluster of cases in transfusion-dependent Thalassaemia patients in Sri Lanka(Blackwell Scientific Publications,, 2020) Perera, S.; Bonsall, D.; Niriella, M.A.; Allen, A.; Peries, A.C.; Nelumdeniya, U.B.; Dissanayake, R.; Silva, I.; de Cesare, M.; Klenerman, P.; Weatherall, D.J.; Roberts, D. J.; Premawardhena, A.P.OBJECTIVES: To report the clinical and virologic epidemiology of a recent epidemic of hepatitis C in thalassaemia patients in Sri Lanka. BACKGROUND: Transfusion-dependent thalassaemia patients remain at risk for hepatitis C virus (HCV). Here, we report a cluster of recent HCV infections in Sri Lankan thalassaemia patients and examine the phylogenetic relationship of viral sequences. METHODS: We conducted two prospective cross-sectional surveys of 513 patients in four Sri Lankan thalassaemia centres in 2014/2015 and re-surveyed one centre in 2016. We screened for anti-HCV antibodies using the CTK Biotech enzyme-linked immunosorbent assay (ELISA) kits and confirmed active infection by reverse transcription-polymerase chain reaction (RT-PCR) for HCV-RNA. HCV genomes were sequenced by unbiased target enrichment. RESULTS: Anti-HCV antibodies were found in 116/513 (22.6%) of patients initially tested. Active hepatitis C infection was found in 26 patients with no cases of active hepatitis B infection. Of 26 patients with HCV, two were infected with genotype 1(a), and the rest had 3(a). In a single centre (Ragama), 122 patients (120 new cases and two previously tested, but negative) were retested for anti-HCV antibodies. 32/122 (26.2%) patients were seropositive. Twenty-three (23/122; 18.8%) of these new cases were confirmed by HCV PCR (all genotype 3[a]). CONCLUSIONS: There is a significant cluster of recent HCV cases in multiply transfused thalassaemia patients in several centres in Sri Lanka. Most of the viruses shared a close phylogenetic relationship. The results are consistent with recent continuing transfusion-transmitted HCV infection. Routine surveillance for HCV of chronically transfused patients is required irrespective of screening of blood products.Item The Burden of diabetes mellitus and impaired fasting glucose in an urban population of Sri Lanka(Wiley-Blackwell, 2013) Pinidiyapathirage, M.J.; Kasturiratne, A.; Ranawaka, U.K.; Gunasekara, D.; Wijekoon, N.; Medagoda, K.; Perera, S.; Takeuchi, F.; Kato, N.; Warnakulasuriya, T.; Wickremasinghe, A.R.AIMS: To describe the burden of diabetes mellitus and impaired fasting glucose in middle-aged residents (35-64 years) in an urban area of Sri Lanka. METHODS: A cross-sectional survey was conducted in the Ragama Medical Officer of Health area, from which 2986 participants (1349 men and 1637 women) were randomly selected from the electoral registry between January and December 2007. The participants underwent a physical examination and had their height, weight, waist and hip circumferences and blood pressure measured by trained personnel. Fasting blood samples were taken for measurement of glucose, HbA(1c) and lipids. The prevalence of diabetes (fasting plasma glucose > 7 mmol/l) and impaired fasting glycaemia (fasting plasma glucose 5.6-6.9 mmol/l) and major predictors of diabetes in Sri Lanka were estimated from the population-based data. RESULTS: Age-adjusted prevalence of diabetes mellitus in this urban population was 20.3% in men and 19.8% in women. Through the present screening, 263 patients with diabetes and 1262 with impaired fasting glucose levels were identified. The prevalence of newly detected diabetes was 35.7% of all patients with diabetes. Among patients with diabetes, only 23.8% were optimally controlled. In the regression models, high BMI, high waist circumference, high blood pressure and hypercholesterolaemia increased the fasting plasma glucose concentration, independent of age, sex and a family history of diabetes. CONCLUSIONS: Our data demonstrate the heavy burden of diabetes in this urban population. Short- and long-term control strategies are required, not only for optimal therapy among those affected, but also for nationwide primary prevention of diabetes