Browsing by Author "Morawakkorala, R."

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A child with intravenous immunoglobulin-resistant Kawasaki disease who responded to intravenous methyl prednisolone
(Sri Lanka College of Paediatricians, 2019) Kankananarachchi, I.; Wickramasinghe, P.; Fernando, M.; Pussagoda, K.; Dissanayake, R.; Morawakkorala, R.; de Silva, H.
No abstract available
Molecular diagnosis of velo-cardio-facial syndrome among sri lankan patients with congenital cardiac defects
(Sri Lanka College of Paediatricians, 2015) Tevarajan, I.; Ranaweera, D. M.; Perera, S.; Samarasinghe, D.; Morawakkorala, R.; Silva, R. L.; de Silva, D.; Chandrasekharan, N.V.
Velo cardio facial Syndrome (VCFS) is caused by a 3 Mb deletion of chromosome 22qll.2. Its multiple clinical features include orofacial clefting, congenital cardiac defects (especially conotruncal),developmental delay and learning difficulties. Hypoparathyroidism and thymic hypoplasia are associated. Dysmorphic features include expressionless face, prominent nose, narrow eyes and long fingers/ toes. Clinical diagnosis is difficult due to its variability making molecular diagnosis essential but this is often too expensive for widespread use. We have developed a less expensive semi-quantitative PCR method for diagnosing VCFS and report preliminary results in congenital cardiac defect patients.OBJECTIVE: • Identify the 22qll.2 deletion syndrome among a selected group of children with typical cardiac defects • Describe clinical features of affected cases DESIGN, SETTING AND METHOD: TweIve children (6 males, mean age 3y lmo) with conotruncal congenital cardiac anomalies or cardiac defects associated with other clinical feature of VCFS were .recruited following informed consent from parents. Ethical approval had been granted for this study. A blood sample was obtained for DNA extraction and the clinical data recorded. Molecular diagnosis was performed using semi-quantitative PCR. RESULTS: Three cases were positive for the deletion. Their cardiac anomalies were an interrupted aortic arch,tetralogy of Fallot and right sided aortic arch. None had palatal anomalies and two (67%) had learning difficulties. None had a positive family history. Only one had facies that were typical. The negative cases included six with aortic arch anomalies, none with clefting and 4 with learning difficulties(44). Two had a family history suggestive of VCFS and two had typical facial features. CONCLUSIONS: Three out of the 12 children were positive for the 22qll.2 deletion.
Molecular diagnosis of Williams syndrome using quantitative polymerase chain reaction (qPCR) in a cohort of Sri Lankan patients.
(International Research Symposium on Pure and Applied Sciences, 2017 Faculty of Science, University of Kelaniya, Sri Lanka., 2017) Ranaweera, D.M.; De Silva, D.; Panchananthan, N.; Samarasinghe, D.; Perera, S.; Morawakkorala, R.; Gunewardene, S.; Chandrasekharan, N.V.
Williams Beuren Syndrome (WBS) is a genetic cause of congenital heart defects associated with developmental delay, hypercalcaemia and characteristic facial features. Its cause is a 1.5 to 1.8 Mb hemizygous deletion of chromosome 7q11.23 involving the loss of around 23 genes including the elastin (ELN) gene. The deletion results in copy number alterations. The aim of this study was to identify whether a group of Sri Lankan children with a clinical diagnosis of WBS could have their diagnosis confirmed or refuted by the use of genetic testing using a validated low cost method. A quantitative PCR method was evaluated for use in deletion screening. Twenty four suspected WBS cases were recruited following ethical clearance and informed consent. DNA was extracted, spectrophotometrically quantified and qPCR performed. The target used for deletion screening was the ELN gene and TES was used as the reference gene for normalization. In all assays, a 10 fold dilution series of standards, a no template control (NTC) and a negative control (NC) were included. The fold copy number change (ΔKCt) was determined and the mean for normals (n=6) was -0.087 ± 0.11 representing no loss while the mean for previously clinically diagnosed WS patients and confirmed by either Fluorescent in situ hybridization (FISH) or microarray analysis (n=6) was -1.39 ± 0.086 representing the loss of one copy (deletion). Among twenty four suspected cases, 19 (79%) had an ELN gene deletion while 5 cases did not and the findings correlated strongly with the clinical suspicions. This qPCR method was able to distinguish ELN deleted cases from the non-deleted ones. The preliminary data supports this as a useful diagnostic test for WBS. Validation of this test using FISH has been performed for five patient’s samples and the microarray confirmed positive which correlated with the qPCR results.