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This repository contains the published and unpublished research of the Faculty of Medicine by the staff members of the faculty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 Retinoblastoma patients treated in Sri Lanka from 2014 to 2020: epidemiology, clinical status and correlates of lag time in seeking tertiary care services(BioMed Central, 2024) Kugalingam, N.; De Silva, D.; Abeysekera, H.; Nanayakkara, S.; Tirimanne, S.; Chandrasekharan, V.; Jayawardana, P.L.BACKGROUND Retinoblastoma (RB) is a tumour of children < 5 years with a incidence of 1 in 20,000. Around 20 RB cases are diagnosed yearly in Sri Lanka, a lower middle-income country with high literacy levels and healthcare free at point of delivery. Incidence, local and systemic severity and mortality related to RB are reportedly high in low- and middle- income countries in comparison to higher income countries. Aims of this study were to describe demographic, socioeconomic, and clinical characteristics of Sri Lankan RB patients attending the designated RB unit at the Lady Ridgeway Hospital (LRH), Colombo between January 2014 to December 2020, and determine correlates of lag time (LT) for first tertiary care visit after detecting the first symptom/sign.METHODS Two descriptive cross-sectional studies (DCSS) were conducted, one on 171 RB patients with demographic and clinical data collected between 2017 and 2020. In 2021, the second DCSS took place where socioeconomic and further demographic data were collected using telephone interviews, recruiting a subgroup of 90 (53%), consenting and contactable RB patient/ parent pairs. Bivariate and multivariable analyses were applied to determine correlates of LT of > 4 weeks for first tertiary care visit. Results were expressed as odds ratios and 95% confidence intervals.RESULTS LRH survey (N = 171): Median age at diagnosis was 15 months (range 1-94 months; IQR: 8-27); 89 (52%) were females. Groups D and E tumours were 25.7% (n = 44) and 62.6% (n = 107) respectively with 121 (71%) enucleations. The number of deaths were 2 (1.2%). Telephone survey (N = 90): Proportion with LT of > 4 weeks for first tertiary care visit was 58% (n = 52). None of the putative risk factors (ethnicity, parental educational level, socioeconomic status, distance from residence to tertiary care unit and receiving financial assistance) were associated with LT in both analyses.CONCLUSION Despite a high proportion with groups D and E tumours and enucleations, mortality rate was low, most likely due to availability of designated tertiary care. No correlates for LT of > 4 weeks for tertiary care presentation were identified. Early RB detection needs rigorous implementation of screening strategies and increased awareness among primary care health workers and parents.Item RB1 screening of retinoblastoma patients in Sri Lanka using targeted next generation sequencing (NGS) and gene ratio analysis copy enumeration PCR (GRACE-PCR)(BioMed Central, 2023) Kugalingam, N.; de Silva, D.; Abeysekera, H.; Nanayakkara, S.; Tirimanne, S.; Ranaweera, D.; Suravajhala, P.; Chandrasekharan, V.BACKGROUND: Retinoblastoma (RB) a tumour affecting those under 5 years, has a prevalence of 1 in 20,000, with around twenty new diagnoses per year in Sri Lanka. Unilateral and bilateral RB presents around 24 and 15 months respectively. Approximately 10% are familial. Systematic genetic testing for germline pathogenic variants of RB1, the only gene associated with an inherited risk of RB, is unavailable in Sri Lanka. Genetic testing optimizes management of affected children and at-risk siblings. This study aimed to develop accessible genetic testing to identify children with a germline pathogenic variant of RB1 in Sri Lanka. METHODS: Targeted next generation sequencing (NGS) for detecting pathogenic sequence variants and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR) for detecting RB1 copy number variations (CNVs) were performed for 49 consecutive RB patients treated between 2016 and 2020 at the designated RB care unit, Lady Ridgway hospital, Colombo. Patients (bilateral RB (n = 18; 37%), unilateral n = 31) were recruited following ethical clearance and informed consent. RESULTS: There were 26 (53%) females. Mean age at diagnosis was 18 months. Thirty-five patients (71%) had undergone enucleation. Germline pathogenic variants of RB1 identified in 22/49 (45%) patients including 18 (37%; 12 bilateral and 6 unilateral) detected by targeted NGS (2 missense, 7 stop gained, 1 splice donor, 8 frameshift variants). Six were previously undescribed, likely pathogenic frameshift variants. Four bilateral RB patients had GRACE-PCR detected CNVs including one whole RB1, two intragenic deletions (exon 12/13; exon 11 and 23) and a partial duplication of exon 27. The only familial case (affected mother and child) shared the duplication. Only 2 of 4 CNVs and 10 of 18 pathogenic variants were confirmed by whole exome sequencing and Sanger sequencing respectively, due to funding limitations. CONCLUSIONS: The study identified pathogenic or likely pathogenic germline RB1 sequence variants and copy number variants in 16/18 (89%) bilateral and 6/31(19%) unilateral cases, which is comparable to worldwide data (10-15% unilateral, 80-85% bilateral). Targeted NGS combined with GRACE-PCR significantly reduce the cost of RB1 testing in Sri Lanka, and may widen access for genetic diagnosis of RB patients in other low and middle income countries.Item A randomized control study of audio versus visual distraction to reduce patient discomfort during colonoscopy(Sri lanka Medical Association, 2015) de Silva, A.P.; Nandamuni, Y.; Rajapakshe, N.N.; Nanayakkara, S.; Perera, K.R.; Kodisinghe, S.K.; Subasinghe, S.K.C.; Niriella, M.A.; Dassanayake, A.S.; Pathmeswaran, A.; de Silva, H.J.INTRODUCTION AND OBJECTIVES: Colonoscopy can cause discomfort and anxiety in patients. Heavy sedation as premedication can lead to complications in elderly and those with co-morbidities. This has led to possible use of audio-visual distraction during the procedure. We compared effects of audio versus visual distraction in reducing discomfort during colonoscopy. METHOD: 131 consecutive patients who underwent colonoscopy were randomized into three groups: allowed to listen to music of their choice during colonoscopy (AD), allowed to watch a film of their choice (VD) and neither as control (C). Patient controlled sedation (PCS) was administered to all three groups; 25 mg pethidine in 5 mg aliquots and 2.5 mg midazolam in 0.5 mg aliquots. All patients were assessed for pain, number of 'top-ups' of sedation, total dose of pethidine and midazolam and patient cooperation and willingness for a repeat procedure. RESULTS: There were 131 patients (AD=43; VD=44; O44). The AD group had significantly less pain and discomfort (p=0.033) compared to VD and Cgroups. There was no significant difference in number of 'top-ups' of sedation, total doses of pethidine and midazolam among the groups. Better patient cooperation (p=0.002) was evident in ADgroup compared with VD and C groups. There was nt> difference between the AD and VD groups in willingness to undergo a repeat procedure. CONCLUSION: Listening to music of your choice during colonoscopy seems to reduce pain and discomfort and increase the patients' cooperation. This may be a useful and simple tool in screening colonoscopy.Item A Randomized control study of audio versus visual distraction to reduce patient discomfort during colonoscopy(American Gastroenterological Association(AGA) Institute, Published by Elsevier Inc., 2015) de Silva, A.P.; Nandamuni, Y.; Nanayakkara, S.; Perera, K.R.; Kodisinghe, S.K.; Subasinghe, S.K.C.; Niriella, M.A.; Dassanayake, A.S.; Pathmeswaran, A.; de Silva, H.J.INTRODUCTION : Colonoscopy can cause anxiety and discomfort in patients who undergo this procedure. Heavy sedation and analgesia as premedication can lead to complications in the elderly and those with co-morbidities. This has led to an interest in use of audio-visual distraction during the colonoscopy as an adjunct. Our aim was to compare effects of audio (AD) versus visual distraction (VD) in reducing discomfort and need for sedation during colonoscopy. METHODS : Consecutive consenting patients who were undergoing colonoscopy were randomized into three groups: one group was allowed to listen to the music of their choice (AD), the second group was allowed to watch a film of their choice (VD) (using SONY head mounted display:HMZ-T3W-H) and the third group with neither during colonoscopy acted as a control (C). Patient controlled sedation (PCS) was administered to all three groups. We used 25 mg pethidine in 5 mg aliquots and 2.5 mg midazolam in 0.5 mg aliquots. All patients were assessed for pain, number of ‘top-ups’ of sedation, total dose of pethidine and midazolam, patient cooperation and willingness to repeat the procedure. RESULTS :There were 77 patients [AD, n=25 (16 males, median age 57 years); VD, n=26, (18 males, median age 58 years); C, n=26 (10 males, median age 59 years)]. The AD group had significantly less pain (p=0.048), number of ‘top-ups’ of sedation (p=0.03), total doses of pethidine (p=0.03) and midazolam (p=0.032), and better patient cooperation (p=0.001) compared with controls. There was no difference between the AD (72%) and VD (73%) groups in willingness to undergo a repeat procedure. Conclusions AD reduces pain and discomfort and the requirement for sedation and seems a useful and simple adjunct to low dose sedation use during colonoscopy.Item Audiovisual Segregation in Typically Developing Children(Faculty of Medicine, University of Kelaniya, 2014) Jayasena, B.N.; Nanayakkara, S.; Illangasighe, C.; Jacob, J.Learning in typical classrooms with high background noise is often difficult for children, where they may have to lipread the teacher to understand what is being said. In this scenario, it is assumed that a child should possess the ability to separate congruent information from incongruent information in an audiovisual signal. This study was aimed at investigating how well typically developing children can segregate visual information in the presence of auditory distracters, compared to young adults. 12 typically developing primary school children and 11 young adults with normal hearing and vision lipread 120 consonant-vowel-consonant-vowel (CVCV) nonsense syllable words presented in four conditions: (1) visual-only condition, (2) visual stimuli with a multi-talker babble, (3) visual stimuli with reversed speech sounds of the nonsense syllable words, (4) visual stimuli with non-altered speech sounds of the nonsense syllable words. Mean scores of children in all four conditions were lower than that of the adults, and also a significant difference for all the conditions between the two groups was noted. Results suggest that normal-like audiovisual segregation is difficult for young children because of maturation effects. The study findings can be used to encourage further research in audiovisual segregation. Also, if used constructively, these findings will be helpful in highlighting the importance of creating learner-friendly environments with minimal auditory distractions for children.Item DFM - '90 - A Look back by three family practitioners(College of General Practitioners of Sri Lanka, 1996) Corea, E.; Nanayakkara, S.; Mendis, K.