Browsing by Author "Rathnayake, P."

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6542 Clinical profiles of children less than 5 years presenting with or high risk of cerebral palsy in the Western Province of Sri Lanka
(BMJ, 2024) Sumanasena, S.; Heiyanthuduwage, T.M.; Fernando, R.; Sheedy, H.S.; Jagoda, J.; Wijesekara, S.; Wanigasinghe, J.; Muttiah, N.; Rathnayake, P.; Kitnasamy, G.; Khandaker, G.
OBJECTIVES Cerebral palsy (CP) is the commonest physical disability in children globally.1 It is a clinical diagnosis based on clinical and neurological findings. International clinical practice guidelines recommend early diagnosis and CP specific interventions to invest in neural plasticity and achieve optimal functional levels.2 In the past diagnosis was confirmed at 12–24 months but now it is advanced to confirm or identify as high risk for CP before the age of six months.3 4 Sri Lanka is one of the few Asian countries that initiated a CP register and National Guidelines on management of CP.5 The objective of this paper is to describe the clinical profiles of children less than 5 years presenting to Western Province hospitals in Sri Lanka based on the data from the Sri Lanka Cerebral Palsy Register (SLCPR).METHODS A cross sectional hospital-based study was conducted in the Western Province from September 2018 – October 2021 in three teaching hospitals to collect a minimum data set for the Sri Lanka SLCPR. Data of children less than 60 months was extracted with a confirmed clinical diagnosis of CP or identified formally as ‘high risk’ of CP.Information on sociodemographic, pre/peri/neonatal, and post neonatal risk factors, and associated impairments were collected using hospital records and clinic notes. Clinical motor type, topography, and associated impairments were evaluated.RESULTS Data of 431 children were extracted, 254 (58.9%) were males. Mean age at diagnosis was 28.73 months (median 27, SD 14.98). Most children (n= 422, 97.9%) acquired CP in the pre/peri/neonatal period. The mean birth weight was 2304.4 g (median 37, SD 825.58g) and the mean POA was 35.82 months (median 37, SD 4.88). Main risk factors identified were prematurity (n=190, 44.1%), hypoxic ischaemic encephalopathy (HIE) (n= 234, 54.3%), jaundice (n=31, 7.2%) and sepsis (n= 13, 3.0%). While 183 children (42.5%) showed evidence of definitive spastic motor type, 184 (42.7%) showed predominant dyskinesia.CONCLUSION The age at diagnosis of this population from Sri Lanka is significantly lower than from other LMICs. HIE and prematurity, both preventable conditions remain the highest risk factors. Longitudinal follow up will ascertain the final motor outcomes as a higher proportion of children showed dyskinesia. The SLCPR is an important resource which will support new research towards investigating opportunities for prevention and service planning for children.
Development and evaluation of a cost effective method for the molecular diagnosis of Prader-Willi syndrome (PWS) and Angelman syndrome (AS) in Sri Lanka.
(International Research Symposium on Pure and Applied Sciences, 2017 Faculty of Science, University of Kelaniya, Sri Lanka., 2017) Panchananthan, V.; De Silva, D.; Rathnayake, P.; Atapattu, N.; Chandrasekharan, N.V.
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are genetic disorders caused by imprinting defects on chromosome 15q11-q13. Prader –Willi syndrome is caused by loss of expression of some paternal genes and Angelman syndrome is caused by loss of expression of some maternal genes on chromosome 15q due to a deletion or uniparental disomy (UPD) of chromosome 15q or methylation centre defects in this region. The methylation specific PCR assay can detect ~99% of cases of PWS caused by deletion or UPD but can miss the 1% of cases caused by imprinting centre defects. The methylation specific PCR can detect around 90% of cases of AS caused by a deletion or UPD but can miss the 10% of cases caused by UBE3A mutation and imprinting centre defects. Objectives of this study were to establish diagnostic testing for PWS and AS among Sri Lankan patients using methylation specific PCR and to develop an in house DNA modification method for use in the methylation specific PCR assay. Forty three patients (suspected PWS = 24, AS =19) were recruited after ethical clearance and informed consent from parents. DNA was extracted from blood and methylation specific PCR (MS-PCR) performed using control primers (SNRPNF and SNRPNR), maternal (MF1 and MR1) and paternal (PF2 and PR2) primers after the modification of DNA using a sodium bisulfite modification kit while some of the samples were modified using a modified protocol established in our laboratory. Eleven out of twenty four suspected PWS cases and none of the nineteen suspected AS cases were positive on testing. The kit based modification generated consistent reliable results while the in house method requires further optimization. In conclusion, the methylation specific PCR was successful in detecting methylation abnormalities associated with PWS and AS and is a potentially useful test to confirm or refute the diagnosis of suspected cases. The MS-PCR negative, suspected AS cases merit clinical review to determine the need for mutation testing prior to exclusion of AS.
Evaluation of an In-House genetic testing method for confirming Prader-Willi and Angelman Syndromes in Sri Lanka
(Clinical Laboratory Publications, 2024) Kugalingam, N.; De Silva, D.; Rathnayake, P.; Atapattu, N.; Ranaweera, D.M.; Chandrasekharan, N.V.
BACKGROUND Prader-Willi syndrome (PWS, MIM 176,270) and Angelman syndrome (AS, MIM 105,830) are caused by imprinting defects of chromosome 15q11-13, with loss of maternal gene expression causing AS and paternal gene expression causing PWS. The diagnosis, once established in most cases by using a methylation-specific PCR test, enables appropriate therapeutic interventions and avoids the need for further investigations. Genetic testing for PWS/AS is limited in Sri Lanka (and in other low- and middle-income countries), mainly because parents are unable to pay for testing as these are not funded by the health service.METHODS Ninety cases (46 female) with clinical features suggesting PWS (n = 37) and AS (n = 53), referred by a pediatric endocrinologist and a pediatric neurologist, were recruited. Clinical information and blood samples were obtained following informed consent. DNA was extracted and methylation-specific PCR (MS-PCR) was performed following bisulfite modification of DNA by using an in-house method and a kit. Results were validated using known positive controls. Parent-child trio DNA samples were used in cases with confirmed PWS and AS to determine if the disease was due to a deletion or uniparental disomy. The cost of the MS-PCR testing of the two modification methods and the microsatellite analysis was determined.RESULTS Among the suspected PWS cases, 19/37 were positive, while 5/53 of the suspected AS cases were positive. The lower identification rate of AS is probably related to the overlap of clinical features of this condition with other disorders. The kit-based modification method was more reliable, less time-consuming, and cost-effective in our laboratory.CONCLUSIONS The kit-based modification followed by MS-PCR described in this study enables more affordable genetic testing of suspected PWS/AS cases, and this is likely to improve patient care by targeting appropriate therapy for the affected cases. Parental genetic counselling is made possible regarding the low recurrence risk, especially where a deletion or uniparental disomy is confirmed. In MS-PCR, negative cases with a strong clinical suspicion of AS, UBE3A mutation testing is required. In addition, imprinting center mutation/deletion testing may also be needed in strongly clinically suspected, MS-PCR negative PWS and AS cases.
Exploring the impact of occupational exposure: A study on cardiovascular autonomic functions of male gas station attendants in Sri Lanka
(Wiley periodicals LLC on behalf of the physiological society and the American physiological society, 2024-10) Warnakulasuriya, T.; Medagoda, K.; Kottahachchi, D.; Luke, D.; Wadasinghe, D.; Rathnayake, P.; Ariyawansa, J.; Dissanayake, T.; Sandeepani, P.; De Silva, D.C.; Devanarayana, N.M.
Fuel dispensing at fuel stations is performed manually by unprotected male gas station attendants in Sri Lanka, who have long working hours. These workers are exposed to hydrocarbon fuels associated with multiple health effects by modulation of the autonomic nervous system. This study was performed to determine cardiovascular autonomic functions among fuel pump attendants in Sri Lanka. Fuel pump attendants (n = 50) aged between 19 and 65 years were identified for the study from seven fuel stations. They were compared with age- and gender-matched controls (n = 46) without occupational exposure to fuel. A physical examination was performed before the autonomic function and heart rate variability (HRV) assessment. There were no significant differences in weight, height, or BMI between the study and the control populations (p > 0.05). Both the systolic blood pressure (SBP) (Mann Whitney U (MWU) = 743.5, p = 0.003) and diastolic blood pressure (DBP) (MWU = 686.5, p = 0.001) were significantly higher among the gas station attendants compared to controls. Valsalva ratio was significantly higher among the study group (MW U = 874.00, p = 0.043) compared to controls. The HRV analysis showed significantly higher SDNN and SD2 (MWU = 842.00, p = 0.034, and MWU = 843.50, p = 0.035 respectively) among the gas station attendants compared to controls. The changes to the cardiovascular autonomic parameters among those exposed to fuel vapor as a gas station attendant indicate an increase in sympathetic outflow to the vessels. In the occupational setting as fuel pump attendants need periodic monitoring.
Lung function of fuel handlers exposed to volatile organic compounds
(Journal of the Ceylon College of Physicians, 2020) Wadasinghe, D.; Warnakulasuriya, T.; Medagoda, K.; Kottahachchi, D.; Luke, D.; Ariyawansa, J.; Rathnayake, P.; Dissanayake, T.; de Silva, D.; Amarasiri, L.; Devanarayana, N.M.; Scheepers, P.
INTRODUCTION AND OBJECTIVES: The respiratory system is a target for effects from air pollutants, including vehicle emissions composed of volatile organic compounds (VOC), particulate matter and other noxious gasses. Our objective was to study the association between selected VOCs and lung function in a cohort of fuel handlers. METHOD: Forty-four fuel handlers (men) from the Gampaha district of Sri Lanka aged 19-65 years were selected using consecutive sampling with a group of 38 males matched by age, without occupational exposure to fuel recruited as controls. Spirometry was performed using a Vitalograph Alpha Touch spirometer, according to ATS guidelines. Pre and post shift VOC levels were measured in end exhaled air samples. RESULTS: The spirometry parameters were not significantly different between the two groups but obstructive (47.72% vs.34.21%) and restrictive ventilatory patterns (31.81% vs. 21.05%) were higher among the fuel handlers. FVC and FEV1 negatively correlated with age (r=-0.672, p<0.001 and r=-6.888, p<0.001 respectively) and number of days of exposure (r=-0.329, p=0.033 and r=-0.306, p=0.049 respectively). Among the fuel handler's, benzene exposure negatively correlated with FVC (r=-0.552, p=0.012) and FEV1 (r=-0.476, p=0.034) and toluene exposure negatively correlated with PEF (r=-0.488, p=0.034). Although levels of all VOCs measured were significantly low among the controls, toluene exposure levels negatively correlated with all spirometry parameters (p<0.05). CONCLUSIONS: A decline in lung function is seen with more days of exposure as a fuel handler. The different vVOCs· affect the volume parameters and flow parameters uniquely and even non-occupational exposure causes an alteration of spirometry parameters among adult males.
ඊඩිපස් නාටකය පූර්ණ ශෝකාන්තයක් ලෙස
(S. Godage and Brothers (Pvt) Ltd, 675, P. de S. Kularatne Mw., Colombo 10, Sri Lanka, 2014) Rathnayake, P.
ලලිත කලා අධ්‍යයනය අංශය
(Faculty of Humanities, University of Kelaniya, Sri Lanka, 2008) Rathnayake, P.
සමකාලීන සිනමා රංගන කාර්යය තුළ ගාමිණී ෆොන්සේකාගේ විශිෂ්ට රූපණ පිළිබිඹුව
(Faculty of Humanities, University of Kelaniya, Sri Lanka, 2010) Rathnayake, P.