Medicine
Permanent URI for this communityhttp://repository.kln.ac.lk/handle/123456789/12
This repository contains the published and unpublished research of the Faculty of Medicine by the staff members of the faculty
Browse
4 results
Search Results
Item A Unique syndrome with facial, cranial, dental and skeletal features: possible relationship to maternal chikungunya exposure or an unidentified genetic cause?(Sri Lanka College of Paediatricians, 2015) de Silva, D.; Basnayake, S.; Gunasekara, R.; Smith, J. C.; Donnai, D.; Newman, B.BACKGROUND:Six children from the western province of Sri Lanka, born between June 2007 and November 2008 have presented with a unique phenotype comprising distinctive facial features, skeletal abnormalities and variable intellectual disability. In four children the mother reported a clinical history of chikungunya infection (CHKV) during their first trimester. OBJECTIVE: • Describe the clinical and demographic features of affected cases • Identify a genetic basis using whole exome sequencing (WES) DESIGN, SETTING AND METHOD: Cases were recruited following informed consent from parents. Blood taken for DNA extraction and WES performed using the lllumina HiSeq 2500 platform. Reads were aligned to the human reference sequence hg19 and analysed using bioinformatics software. RESULTS: Four cases were females. Five were Sinhalese, one Tamil. None had parental consanguinity. Four mothers reported first trimester CHKV infection. Distinctive facial features (pinched face, downslanting eyes, turri-brachvcephalv, open mouth, lip retraction, V shaped dental arches and high mandibular angles), restriction of joint movements (small and large joints) and variable developmental delay were present. Review by a panel of experts revealed no syndrome diagnosis WES analysis on five cases did not identify a homozygous or compound heterozygous recessive or de novo dominant mutation of an autosomal gene. CONCLUSIONS: WES analysis did not identify a homozygous or compound heterozygous recessive or de novo dominant mutation of an autosomal gene.Item Recent chikungunya outbreak in Sri Lanka 2006-2007(Faculty of Tropical Medicine, Mahidol University, 2007) Abeyewickreme, W.; Bandara, K.B.A.T.; Dayanath, M.Y.D.; Sumanadasa, D.; Hapuarachchi, H.A.C.; Gunawardena, N.K.; Hapugoda, M.D.; Wijesiriwardena, B.; de Silva, S.; Perera, T.BACKGROUND: Chikungunya(CHIK) is a viral disease transmitted by Aedes mosquitoes. Cases with symptoms of CHIK had been reported from several parts of Sri Lanka in 2006-2007. Laboratory testing of samples is a prime requirement for confirmation of transmission. OBJECTIVES: To confirm CHIK infection in suspected patients by rapid Reverse Transcription Polymerase Chain Reaction Assay(RT-PCR), find out manifestations specific for CHIK infection and study the transmission of CHIK virus by vector mosquitoes. METHODOLOGY: Serura. samples and information on clinical manifestations were collected from 189 chikungunya-suspected patients from different geographical areas in Sri Lanka from September 2006 to September 2007. Samples were tested for Chikungunya RNA by RT-PCR. Amplified products were visualized by agarose gel electrophoresis. Adult mosquitoes were also collected from chikungunya case-reported stations. They were tested for Chikungunya RNA through RT-PCR-followed by agarose gel electrophoresis assay. RESULTS: Of the CHIK-suspected patients reported from all parts of the island 86/189 (45.5%) were positive for CHIK virus. Of the PCR positive 06, all had fever with either arthralgia or arthritis or both. Headache (95.3%) and backache (84.6%) were also common among above patients. Eight percent (4/50) of both species of Aedes mosquitoes were RT-PCR positive. DISCUSSION: RT- PCR is important in early diagnosis of the infection and differentiation from dengue fever. The most common clinical symptoms observed were fever with either arthralgia, arthritis or both. Both Aedes aegypti and Aedes. albopictus are important in transmitting the disease.Item A Case report of dengue and chikungunya co-infection in Sri Lanka(The Parasitology and Tropical Medicine Association of Thailand, 2008) Abeyewickreme, W.; Hapuarachchi, H.A.C.; Bandara, K.B.A.T.; Hapugoda, M.D.; Williams, S.Dengue fever and chikungunya are arboviral diseases transmitted by Aedes mosquitoes. Though dengue has been an important communicable disease in Sri Lanka for many years, chikungunya has not been reported in Sri Lanka since late 1960s. However, in November 2006, an outbreak suggestive of chikungunya erupted in the country. We report here the first laboratory confirmed case of dengue and chikungunya co-infection in Sri Lanka. The objective is to confirm the co-infection of dengue and chikungunya in a clinical case reported in November 2006. Clinical history of high fever, severe headache, nausea, loss of appetite, severe arthralgia and mild oedema of knees, small joints of hands and feet for 3 days suggested the possibility of dengue and chikungunya in a 70 year old male. There was no skin rash or bleeding manifestations. Laboratory investigations performed included total white blood corpuscle count/differential count (WBC/DC), platelet count (PLT), serum, haemoglobin (Hb%) and packed cell volume levels (PCV). Reverse Transcription- Polyrnerase Chain Reaction (RT-PCR) technology was used to confirm the presence of either dengue or chikungunya. Viral RNA was extracted from serum samples collected during the first five days of infection using QiAmp Viral RNA Kits and amplified products were visualized by 2% agarose gel electrophoresis and ethidium bromide staining. WBC/DC analysis showed a leucopaenia (WBC count 3.04 x 103 per μl) with relative lymphocytosis (51.0%). The total PLT was 115 x 103 per μl. Hb% was 14.3 g/dl with a PCV of 43.8%. The presence of both infections was confirmed by RT-PCR which amplified 225 bp and 354 bp products for dengue and chikungunya respectively. This was the first laboratory confirmed case of dengue and chikungunya co-infection, which was also the first confirmed report of chikungunya since 1969 in Sri Lanka. As clinical and biochemical manifestations of this patient suggested the probability of a mixed infection of dengue and chikungunya, the confirmation was achieved by a RT-PCR assay. This report highlights the importance of using molecular assays to confirm mixed viral infections during their early stages, especially infections such as dengue which can result in fatal complications.Item Geographical Information System (GIS)-based maps for monitoring of entomological risk factors affecting transmission of Chikungunya in Sri Lanka(Faculty of Tropical Medicine, Mahidol University, 2008) Hapugoda, M.D.; Gunawardena, N.K.; Kusumawathie, P.H.D.; Jayasooriya, G.A.J.S.K.; Hapuarachchi, H.A.C.; Abeyewickreme, W.INTRODUCTION: Chikungunya is an important mosquito-born viral infection in Sri Lanka at present. OBJECTIVE: To prepare OUS-based maps Tor monitoring of entomological risk Factors affecting transmission of chikungunya. RESEARCH DESIGN: Entomological risk factors affecting transmission of chikungunya were examined in a chikungunya hot-spot in the District of Kandy, Sri Lanka from April to July in 2008. Hundred house-holds in 33 clusters were recruited. The distant between clusters was at least 200m which is beyond the maximum flight range of Aedes mosquitoes, the vectors of chikungunya. Monthly surveillance was conducted using standard entomological surveillance methods followed by obtaining information through a pre-tested questionnaire. G1S was used to map the selected house¬holds and display entomological data. RESULTS: GIS-based maps were developed to highlight the spatial and temporal distribution of vectors, their density and the presence of key breeding sites. Maps showed the presence of high density of Aedes albopictus mosquitoes in more than 90% of the key (artificial) breeding habitats in all clusters throughout the study period. DISCUSSION: Generalized high density of Ae. albopictus suggests that this species may play a major role in transmitting chikungunya in the study area. GIS-based 'maps may be used as an important tool to find out spatial and temporal distribution of vectors, their density and key breading sites in a selected hotspot, which would enable cost effective and efficient interventions for vector control in disease endemic areas.