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Browsing by Author "de Silva, D.C."

Browsing by Author "de Silva, D.C."

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  • The Adrenal glands and their functions 
    de Silva, D.C.; Wijesiriwardena, B. (Sri Lanka Medical Association, 2007)
    The adrenal glands secrete hormones essential for metabolism, regulation of blood pressure, and sodium and glucose homeostasis. Hypo- or hypersecretion of these hormones is life threatening. Understanding the physiological ...
  • Adrenal hypersecretion 
    Wijesiriwardena, B.; de Silva, D.C. (Sri Lanka Medical Association, 2007)
    Hypersecretion from the adrenal glands is associated with hypertension. Causes include Conn syndrome, Cushing syndrome and phaechromocytoma. This article discusses their clinical features, diagnosis and treatment as well ...
  • Adrenal insufficiency 
    Wijesiriwardena, B.; de Silva, D.C. (Sri Lanka Medical Association, 2007)
    Adrenal insufficiency can be due to disease of the adrenal gland itself (primary adrenal deficiency) or of the hypothalamic or pituitary regulation of the adrenal gland (secondary adrenal insufficiency). This article ...
  • Attitudes toward prenatal diagnosis and termination of pregnancy for genetic disorders among healthcare workers in a selected setting in Sri Lanka 
    de Silva, D.C.; Jayawardana, P.; Hapangama, A.; Suraweera, E.G.D.N.; Ranjani, D.; Fernando, S.; Karunasena, C.; Jinadasa, S. (Wiley, 2008)
  • Attitudes towards induced termination of pregnancy among Buddhist and Christian clergy compared to the lay population in the western province of Sri Lanka 
    de Silva, D.C.; Jayawardene, P.L. (University of Kelaniya, 2011)
    Termination of pregnancies (TOP) is common in Sri Lanka despite it being illegal except when the mother‟s life is in danger. Most TOPs occur within marriage and for social reasons. Attempts to change the law to permit TOP ...
  • Biallelic variants in DNA2 cause microcephalic primordial dwarfism. 
    Tarnauskaitė, Z.; Bicknell, L.S.; Marsh, J.A.; Murray, J.E.; Parry, D.A.; Logan, C.V.; Bober, M.B.; de Silva, D.C.; Duker, A.L.; Sillence, D.; Wise, C.; Jackson, A.P.; Murina, O.; Reijns, M.A.M. (Wiley-Liss, 2019)
    Microcephalic primordial dwarfism (MPD) is a group of rare single-gene disorders characterised by extreme reduction in brain and body size from early development onwards. Proteins encoded by MPD-associated genes play ...
  • Can we improve physiology tutorials? An assessment of targeted vs. non-targeted tutorials 
    Fernando, N.; Devanarayana, N.; Ferdinandis, H.; Jinadasa, S.; Karunasena, C.; Fernando, S.; de Silva, D.C. (University of Kelaniya, Sri Lanka, 2003)
    Abstract available
  • Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum. 
    Haghighi, A.; Kavehmanesh, Z.; Haghighi, A.; Salehzadeh, F.; Santos-Simarro, F.; Van Maldergem, L.; Cimbalistiene, L.; Collins, F.; Chopra, M.; Al-Sinani, S.; Dastmalchian, S.; de Silva, D.C.; Bakhti, H.; Garg, A.; Hilbert, P. (John Wiley & Sons, 2016)
    Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder with two major subtypes. Variants in AGPAT2 result in CGL type 1 with milder manifestations, whereas BSCL2 variants cause CGL type 2 with more ...
  • Development of a low cost semiquantitative polymerase chain reaction assay for molecular diagnosis of williams syndrome 
    Ranaweera, D.M.; de Silva, D.C.; Samarasinghe, D.; Perera, S.; Kugalingam, N.; Samarasinghe, S.R.; Madushani, W.Y.; Jayaweera, H.H.E.; Gunewardene, S.; Muneeswaran, K.; Gnanam, V.S.; Chandrasekharan, N.V. (Clinical Laboratory Publications, 2024)
    BACKGROUND: Williams Beuren Syndrome (WBS) is a well-recognized and common genetic cause of congenital heart defects, developmental delay, hypercalcemia, and characteristic facial features. It is caused by a 1.5 - 1.8 Mb ...
  • Efficacy of single dose combinations of albendazole, ivermectin and diethylcarbamazine for the treatment of bancroftian filariasis 
    Ismail, M.M.; Jayakody, R.L.; Weil, G.J.; Nirmalan, N.; Jayasinghe, K.S.A.; Abeyewickreme, W.; Sheriff, M.M.R.; Rajaratnam, H.N.; Amarasekera, N.; de Silva, D.C.; Michalski, M.L.; Dissanaike, A.S. (Oxford University Press, 1998)
    In a 'blind' trial on 50 male asymptomatic microfilaraemic subjects with Wuchereria bancrofti infection, the safety, tolerability and filaricidal efficacy of a single dose of albendazole (alb) 600 mg alone or in combination ...
  • Evaluation of 22q11.2 deletion in Cleft Palate patients. 
    Prabodha, L.B.; Dias, D.K.; Nanayakkara, B.G.; de Silva, D.C.; Chandrasekharan, N.V.; Ileyperuma, I. (Mumbai : Medknow Publications, 2012)
    BACKGROUND: Cleft palate is the commonest multifactorial epigenetic disorder with a prevalence of 0.43-2.45 per 1000. The objectives of this study were to evaluate the clinical features and identify the 22q11.2 deletion ...
  • FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly 
    Simonis, N.; Migeotte, I.; Lambert, N.; Perazzolo, C.; de Silva, D.C.; Dimitrov, B.; Heinrichs, C.; Janssens, S.; Kerr, B.; Mortier, G.; Van Vliet, G.; Lepage, P.; Casimir, G.; Abramowicz, M.; Smits, G.; Vilain, C. (British Medical Association, 2013)
    BACKGROUND: Harstfield syndrome is the rare and unique association of holoprosencephaly (HPE) and ectrodactyly, with or without cleft lip and palate, and variable additional features. All the reported cases occurred ...
  • Genome sequencing in families with congenital limb malformations 
    Elsner, J.; Mensah, M.A.; Holtgrewe, M.; Hertzberg, J.; Bigoni, S.; Busche, A.; Coutelier, M.; de Silva, D.C.; Elçioglu, N.; Filges, I.; Gerkes, E.; Girisha, K.M.; Graul-Neumann, L.; Jamsheer, A.; Krawitz, P.; Kurth, I.; Markus, S.; Megarbane, A.; Reis, A.; Reuter, M.S.; Svoboda, D.; Teller, C.; Tuysuz, B.; Türkmen, S.; Wilson, M.; Woitschach, R.; Vater, I.; Caliebe, A.; Hülsemann, W.; Horn, D.; Mundlos, S.; Spielmann, M. (Springer-Verlag., 2021)
    ABSTRACT: The extensive clinical and genetic heterogeneity of congenital limb malformation calls for comprehensive genome-wide analysis of genetic variation. Genome sequencing (GS) has the potential to identify all genetic ...
  • Is problem based learning (PBL) a way forward in undergraduate medical education? Results of a pre & post PBL assessment? 
    Athukorala, A.D.S.P.K.; Devanarayana, N.M.; Medagoda, K.; Ferdinandis, H.; Dissanayake, A.S.; de Silva, D.C. (University of Kelaniya, Sri Lanka, 2003)
    Abstracts available
  • Peer evaluation of individual effort in student group work 
    Roshini, A.A.N.; de Silva, D.C.; Chandratilake, M.N.; Pathmeswaran, A. (Sri Lanka Medical Association, 2007)
    OBJECTIVE: To assess the feasibility of using a method of peer assessment of individualized effort during group work and to validate it. DESIGN, SETTING AND METHODS: At the end of a module during the 2nd year, 12 groups ...
  • Soto syndrome: a rare overgrowth disorder 
    de Silva, D.C.; de Leeuw, N.; Gunasekera, R. (Sri Lanka Medical Association, 2013)
    This is a case report of a boy with an overgrowth syndrome called Soto syndrome (cerebral gigantism).

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