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Department of Pediatrics: Recent submissions

  • A Four and a alf Year Old Boy with Myositis Ossificans Progressiva 
    Amarasena, S.; Samanlatha, M.G.K.; De Silva, M.H.A.D.; Kolombage, P. (Faculty of Medicine, University of Ruhuna, Galle, Sri Lanka, 2009-09)
    Myositis ossificans progressiva (MOP) (synonymous with fibrodysplasia ossificans progressiva) is an extremely rare disease inherited in an autosomal dominant manner with an estimated incidence of 0.1 per one million ...
  • Awareness, Prevalence and Determints of Preconception Folic Acid Intake in Antental Mothers: a Cross-sectional Study in Galle 
    De Silva, J.; Amarasena, S.; Jayaratne, K.; Perera, B. (Faculty of Medicine, University of Ruhuna, Galle, Sri Lanka, 2022-02-24)
    Preconception folic acid (FA) supplementation is a key to prevent neural tube defects among children. A better knowledge on importance of FA would increase its intake preconceptionally.This study was carried out to assess ...
  • An Omphalocele, Epispedias, Cleft Palate, Cranial Deformity and Facial Dysmorphism: a Case with Midline and Laterality Defects 
    Prabodha, L.B.L.; Amarasena, T.S.D.; Ilayperuma, I.; Nanayakkara, B.G. (Faculty of Medicine, University of Ruhuna, Galle, Sri Lanka, 2017-12)
    A 7 year old male child with cleft soft palate, omphalocele, epispedias, posterior prominence of the skull, prominent forehead with high anterior hair line, dextraposition of the heart, right sided inguinal hernia, mental ...
  • Indicators of Newborn Screening for Congenital Hypothyroidism in Sri Lanka: Program Challenges and Way Forward 
    Hettiarachchi, M.; Amarasena, S. (Faculty of Medicine, University of Ruhuna, Galle, Sri Lanka, 2014-09)
    Many of the countries in the Asia Pacific Region are just initiating newborn screening programs for selected metabolic and other congenital disorders. The present study is aimed at evaluating the congenital hypothyroidism ...
  • Nutritional Status and Dietary Restrictions of Children with Asthma in Comparison to Healthy Children 
    Kankananarachchi, I.; Liyanarachchi, N.D.; Gunathilaka, G.; Wijesinghe, Champa J.; Jayawardana, P.P.; Chamika, R.M.A.; Jayarathna, R.N.; Vithanage, N.D.; Amarasena, S.; Egodage, U.K.; Devasiri, I.V. (Faculty of Medicine, University of Ruhuna, Galle, Sri Lanka, 2022-09-05)
    Asthma is a chronic inflammatory disorder of the small airways. It has an impact on childhood nutrition due to the chronic nature of the disease.
  • A Case of Revesz Syndrome 
    Kankananarachchi, C.I.; Wickramasinghe, N.D.; Vithana, S.R.; Munasinghe, T.M.; Amarasena, S. (Faculty of Medicine, University of Ruhuna, Galle, Sri Lanka, 2018-06-05)
    Classical features of Revesz syndrome (RS) include skin pigmentation, nail dystrophy, oral leukoplakia, cerebellar hypoplasia, growth retardation and delayed psychomotor development1. We report a child with RS with ...
  • A Case of Two Siblings with Morquio Syndrome 
    Kankananarachchi, I.; Amarasena, S. (Faculty of Medicine, University of Ruhuna, Galle, Sri Lanka, 2021-11-23)
    Morquio syndrome (Type IV mucopolysaccharidosis) is an autosomal recessive condition with a prevalence of 1:40000 to 1:200000.1 The deficiencies of N-acetyl-galactosamine-6-sulfatase and beta-galactosidase leads to ...
  • A case series of Pyridoxine Resistant Classical Homocystinuria 
    Kankananarachchi, I.; Munasinghe, T.M.; Liyanarachchi, N.D.; Amarasena, S. (Faculty of Medicine, University of Ruhuna, Galle, Sri Lanka, 2019-04-12)
    Homocystinuria is an autosomal recessive disorder with the prevalence of 1;200000. It is due to the defect in the Methionine metabolism which results in accumulation of Homocysteine in the body. We report a series of ...
  • A Case of Classical Galactosaemia Presenting with Fanconi Syndrome 
    Kankananarachchi, I.; Munasinghe, T.M.; Naotunna, C.; Dharmawardena, H.; Hewawitharana, G.; Atapattu, N.; Amarasena, S. (Faculty of Medicine, University of Ruhuna, Galle, Sri Lanka, 2019-04-12)
    Galactosaemia is a rare autosomal recessive metabolic disorder with the prevalence of 1;60000. Classical Galactosaemia (CG) is the most common variant of Galactosaemia and which is due to deficiency of Galactose-1-phosphate ...
  • Cyclical Intravenous Pamidronate Therapy in Children with Osteogenesis Imperfecta 
    Jayawardana, P.P.; Amarasena, S.; Lekamwasam, S. (Faculty of Medicine, University of Ruhuna, Galle, Sri Lanka, 2005-09)
    Children affected with osteogenesis imperfecta (OI) have increased morbidity and mortality and no definite treatment has been found yet. Recurrent fractures and bone deformities are the main complications of this ...
  • A Case of Limb Girdle Muscular Dystrophy type 4 C 
    Kankananarachchi, I.; Hewawitharana, G.P.; Amarasena, S. (Faculty of Medicine, University of Ruhuna, Galle, Sri Lanka, 2020-12)
    Limb-girdle muscular dystrophies (LGMD) are a group of progressive hereditary myopathies that predominantly affect the muscles of the hip and shoulder girdles.1Distal muscle involvement is a late feature of the condition. ...
  • Systemic Lupus Erythematosus mimicking lymphoproliferative malignancy in a child 
    Munasinghe, T.M.; Naotunna, C.; Vithana, S.; Kankananarachchi, I.; Dharmawardena, H.; Amarasena, S. (Faculty of Medicine, University of Ruhuna, Galle, Sri Lanka, 2019-12-15)
    Systemic Lupus Erythematosus (SLE) is a chromic autoimmune disease with multisystemic involvement. The estimated prevalence of SLE among children is 1-6/100000. Here we report a child who presented with generalized ...
  • Survey on Screening for Inborn Errors of Metabolism among Medical Professionals Caring for Children in Sri Lanka 
    Kankananarachchi, I.; Liyanage, D.; Egodage, U.K.; Kalansuriya, P.; Amarasena, S.; Hettiarachchi, M. (Sri Lanka Journal Online, 2023-03-05)
    Introduction: Newborn screening (NBS) is one of the most efficient and effective ways of detecting disorders among neonates who can then be treated and have an improved quality of life. Inborn Errors of Metabolism ...

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