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This repository contains the published and unpublished research of the Faculty of Medicine by the staff members of the faculty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 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 Development and validation of a documenting tool for an Instrumental Feeding Assessment; Fibreoptic Endoscopic Evaluation of Swallowing (FEES)(University of Kelaniya, Sri Lanka, 2022) Amunugama, E.M.D.W.H.L.; de Silva, M.D.K.Background: Fibreoptic Endoscopic Evaluation of Swallowing (FEES) is an emerging assessment in speech therapy practice in Sri Lanka. However, the absence of an appropriate documentation system has been a major issue due to a lack of consensus on the format of reporting the findings of FEES among different clinical settings and missing essential areas of assessment. The study focused on developing and validating a documentation system for FEES, which can assess people who have no prior clinical examination history.Methods: For this validation study (action research), the modified Delphi method with 2 rounds was conducted with 7 speech therapists who are involved in conducting FEES in government hospitals and in the private sector. Two independent rounds through online questionnaires were conducted to finalize and validate the developed tool. The first round focused on finalizing the developed tool and round two considered content face validation of the finalized tool. Results: The record sheet for FEES was finalized with the accepted components and suggestions from both Delphi panels. The Delphi panels agreed with the content with an excellent content validity index score for face validation of the tool. The finalized tool consisted of 3 subsystems: pre-FEES, FEES findings and post FEES. Conclusion: A comprehensive record sheet was developed during the study to address the lack of a proper documentation system for FEES in clinical settings in Sri Lanka. The tool was designed in a clinician-friendly manner where a clinician can evaluate an outpatient who has not gone through a bedside evaluation. The content and face validity reflected user-friendliness and reliability of included items.Item Implementation of an Online Histopathology Reporting System in the Department of Pathology, Faculty of Medicine, University of Kelaniya(19th Conference on Postgraduate Research, International Postgraduate Research Conference 2018, Faculty of Graduate Studies,University of Kelaniya, Sri Lanka, 2018) Hettiarachchi, W.G.; Ediriweera, E.P.D.S.; Mahendra, B.A.G.G.; Liyanage, S.K.; Hewavinsenthi, S.J.D.S.; Ratnayake, R.M.U.S.The Department of Pathology, Faculty of Medicine, University of Kelaniya provides histopathology reporting for the Colombo North Teaching Hospital (NCTH) as an honorable service. The department currently uses a standalone Microsoft access database to generate reports and it has limited data retrieval capabilities. A newer system was required to address the issues faced, mainly a prolonged turnaround time caused by lack of clinical data, inability to track delays in sample processing, delays in data entry and report dispatch. More efficient data retrieval for research purposes and monitoring of postgraduate training were also considered important. The aim of the work was to implement anonline histopathology reporting system that has facility to track the reporting stage, postgraduate evaluation and data retrieval for researches. Every report is attached with a diagnostic code that can be used in research purposes. A web-based application was developed that has ability to capture data at each step from specimen receiving from the surgery theatre until dispatch of reports. The system has developed to easily customizable to different settings. Thus, it has facility to add new reporting templates, anatomical sites, surgical specimens or diagnostic codes to system through web forms. Data entry was facilitated by using drop down menus and prompts. Standard templates for reports with option to edit were uploaded enabling quick report generation. It facilitates postgraduate supervision by enabling the trainer to determine the time taken, quality and quantity of work done by the trainees. Mainly open source scripting languages and databases were used to developed the system: PHP, HTML 5, CSS Javascript, Ajax and MySQL. The system hosted on the faculty intranet and available 24/7 from anywhere at the faculty. The system supports both windows and androids operating systems and the system can be accessed in desktop and tablet computers using any commonly used modern web browsers.