A5080338852- Sexual Differentiation and Disorders
- Adrenal Hormones and Disorders
- Vitamin D Research Studies
- Growth Hormone and Insulin-like Growth Factors
- Diabetes and associated disorders
- Diabetes Management and Research
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Diet and metabolism studies
- Hormonal and reproductive studies
- Pituitary Gland Disorders and Treatments
- Metabolism and Genetic Disorders
- Child Nutrition and Water Access
- Cancer, Hypoxia, and Metabolism
- Urological Disorders and Treatments
- Hormonal Regulation and Hypertension
- Vitamin C and Antioxidants Research
- Obesity, Physical Activity, Diet
- Birth, Development, and Health
- Pancreatic function and diabetes
- Adrenal and Paraganglionic Tumors
- Bone health and treatments
- Thyroid Disorders and Treatments
- Metabolism, Diabetes, and Cancer
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genetic Syndromes and Imprinting
Lady Ridgeway Hospital for Children
2014-2025
National Hospital of Sri Lanka
2022
Provincial Health Services Authority
2022
Radboud University Nijmegen
2021
University of Colombo
2020
University of Birmingham
2016
Children's of Alabama
2012-2013
Endocrinology Research Center
2012
Boston Children's Hospital
2012
Background: Vitamin D and calcium deficiencies are common worldwide, causing nutritional rickets osteomalacia, which have a major impact on health, growth, development of infants, children, adolescents; the consequences can be lethal or last into adulthood. The goals this evidence-based consensus document to provide health care professionals with guidance for prevention, diagnosis, management policy makers framework work toward its eradication. Evidence: A systematic literature search...
Background As in many other Asian countries, Sri Lanka is the phase of a rapid demographic, nutritional and epidemiological transition. result dietary habits lifestyle are changing. These have led to new health problems region. Childhood overweight obesity examples such problems. Objective To provide information on status 8-12 years old schoolchildren an urban area Lanka. Subjects methods Seven schools situated city Colombo were randomly selected. They showed fair representation children all...
We recently reported non-coding variants in a cis-regulatory element of the beta-cell disallowed gene hexokinase 1 (HK1) as novel cause congenital hyperinsulinism. These lead to loss repression HK1 pancreatic beta-cells, causing insulin secretion during hypoglycaemia. In this study, we aimed determine prevalence, genetics, and phenotype HK1-hyperinsulinism by screening large international cohort patients living with condition. screened region 1761 probands hyperinsulinism unknown aetiology...
Abstract Background 46,XY gonadal dysgenesis is classified as complete (CGD) or partial (PGD) subtypes. The phenotype of PGD and the long-term outcome not clearly defined. Objective To evaluate clinical features pubertal in a large cohort, using CGD comparator for diagnostic clarity. Methods Patients with GD were identified from I-DSD Registry data on phenotype, genetics, biochemistry, histology development collated three categories; (n=100), assigned female (PGDf, n=107) male (PGDm, n=103)...
Objectives: Physiological replacement is important for optimal control of congenital adrenal hyperplasia (CAH).We examined glucocorticoid and mineralocorticoid in children adults with CAH.Methods: Data were extracted February 2017 22 centres 14 countries from the international I-CAH registry (www.i-cah.org).1501 events 269 patients seen between 1987 analyzed.Results: 256 had information on glucocorticoids (F 136, M 116, 4 sex not assigned; 0-1y n=130, 69F, 1-8y n=153 82F, 8-12y n=42 26F,...
Although congenital adrenal hyperplasia (CAH) is known to be associated with crises (AC), its association patient- or clinician-reported sick day episodes (SDE) less clear.
Despite published guidelines no unified approach to hormone replacement in congenital adrenal hyperplasia (CAH) exists. We aimed explore geographical and temporal variations the treatment with glucocorticoids mineralocorticoids CAH.This retrospective multi-center study, including 31 centers (16 countries), analyzed data from International-CAH Registry.Data were collected 461 patients aged 0-18 years classic 21-hydroxylase deficiency (54.9% females) under follow-up between 1982 2018. Type,...
<b><i>Background:</i></b> Septo-optic dysplasia (SOD) is a disorder with postulated environmental and genetic aetiology. This study delineates clinical features potential perinatal factors along epidemiology in SOD children. <b><i>Methods:</i></b> Assessment of patients triad the UK West Midlands region. <b><i>Results:</i></b> Of 227 identified between 1998 2009 1 or more feature triad, 55 had midline defects, 149 optic...
Background There is limited information about diabetes and thyroid related autoantibodies in children with type 1 (T1D) or their siblings Sri Lanka. Objectives To assess T1D unaffected the prevalence of to (1) glutamic acid decarboxylase (GADA), insulinoma associated antigen-2 (IA-2A) zinc transporter 8 (ZnT8A) using 3 Screen ICA™ (3-Screen) individual ELISA assays; (2) insulin (IAA); (3) peroxidase (TPOA), thyroglobulin (TgA) TSH receptor (TSHRA). Methods We selected - (a) consecutive...
It is known that obesity associated with vitamin D deficiency and observational studies have shown to be linked the development of type 2 diabetes. There are no comprehensive data regarding in children Sri Lanka objective study was assess prevalence Vitamin its association metabolic derangements among obesity.Two hundred two between 5 15 years age attending clinic Lady Ridgeway Hospital (LRH) were recruited excluding those having possible secondary causes for obesity. Blood drawn after 12-h...
International guidelines recommend additional salt supplementation during infancy in classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. The influence of corticoid medication and growth has not been assessed.To investigate the current use supplementation, fludrocortisone (FC) hydrocortisone (HC) dosage as well weight, height, BMI blood pressure (BP) CAH children aged 0-3 years.Retrospective multicentre analysis using data from I-CAH registry. Salt-treated (ST)...
Abstract Background Micronutrient deficiencies are identified among obese individuals. Vitamin D deficiency (VDD) is prevalent in children, and hypothesized to cause insulin resistance metabolic abnormalities. This study aimed determine the effect of vitamin supplementation on obesity related abnormalities Sri Lankan children with VDD. Methods A triple-blind randomized controlled trial was conducted deficient (< 20 ng/ml), ( n = 96), randomly allocated three intervention arms - treatment...
Neonatal Diabetes Mellitus (NDM) is a disorder characterized by persistent, severe hyperglycemia presenting during the first 6 months of life. These disorders are rare and incidence approximately 1 in 90,000 live births. To describe clinical presentation, molecular genetics outcome patients with NDM from single paediatric endocrine center low middle income country. A retrospective study was conducted on diagnosed NDM. Medical records were reviewed for demographic data clinical, biochemical...
Abstract Context Congenital hyperinsulinism (HI) is characterized by inappropriate insulin secretion despite low blood glucose. Persistent HI often monogenic, with the majority of cases diagnosed in infancy. Less known about contribution monogenic forms disease those presenting childhood. Objective We investigated likelihood finding a genetic cause childhood-onset and explored potential factors leading to later age at presentation disease. Methods screened disease-causing genes 1848...
A two-month old male infant initially presented with cutaneous candidiasis. He is the second child of nonconsanguineous healthy parents whose first born a bright six year school girl. This boy was at term following an uncomplicated antenatal period birth weight 2.9 kg. exclusively breast fed for months. Initial tests immunodeficiency including full blood count, HIV screening, CD 3,4,8,19,16 subsets, serum IgG, IgM and IgA levels were normal. IgE not assessed due to non-availability facilities.
Official Journal of the Endocrine Society Sri Lanka. The Lanka Diabetes Endocrinology and Metabolism (SJDEM) publishes original research articles, reviews, other special features related to diabetes, endocrinology metabolism in humans human tissue.
Evaluation of the external genitalia is important in routine neonatal examination, since abnormalities give clues to underlying endocrine disorders or structural malformations.The objectives study were document stretched penile length (SPL) healthy term neonates born following an uncomplicated delivery at a tertiary care hospital Sri Lanka, and establish normative data for SPL Lankan neonates.This was cross sectional observational study, carried out post natal wards Castle Street Hospital...
Abstract Turner syndrome (TS) (approximately 1:5,000 births) and craniopharyngioma (CP) (1:50,000 children) are both rare conditions. We present three cases of TS with CP, an association not previously described. Visual failure, poor growth or headache led to MRI diagnosis CP. Whilst two had evidence hypopituitarism at they all developed following surgical debulking. Two required radiotherapy due regrowth. Whether CP share a similar aetiology is unknown. Clinicians need be aware this...
The Journal is the primary organ of Continuing Paediatric Medical Education in Sri Lanka. journal also has a website. Free full text access available for all readers.The Lanka Child Health now indexed SciVerse Scopus (Source Record ID 19900193609), Index Medicus South-East Asia Region (IMSEAR), CABI (Centre Agriculture and Bioscience International Global Database), DOAJ Google, as well Google Scholar.The policies are modelled on Committee Publication Ethics (COPE) Guidelines Principles...
Ceylon Medical Journal (CMJ) is a peer-reviewed, open access journal published quarterly by the Sri Lanka Association in last week of March, June, September and December each year. The mission CMJ to promote science art medicine betterment public health. publishes original papers commentaries which have relevance allied sciences. committed maintaining conforming editorial ethical standards recommended International Committee Editors.