Three years of paediatric morbidity and mortality at the national hospital in Dili, East Timor

Aim The aim of this study was to undertake a retrospective review of admissions and discharges to the paediatric wards at the National Hospital Guido Valadares, Dili, as the epidemiology of hospitalised children in East Timor cannot be easily understood from the hospital health management information system. Method Data were sourced from unit registers for 3 years, 2008-2010 inclusive. Demographic characteristics and principal diagnoses were related to the risk of dying using stepwise multivariate logistic regression. Results There were 5909 children admitted to the wards over the study period and 60% were <2 years of age. The commonest reasons for admission were lower respiratory tract infections (LRIs) and gastroenteritis (43% and 16%, respectively). Severe malnutrition (MN) was recorded in only 5% of admissions. Overall, 6% of children died, mainly attributed to LRI (28%), central nervous system infections (16%) and MN (11%). Younger age, residence outside of Dili and admission during a busier period were independently associated with an increased risk of death. Nine per cent of hospitalised infants aged 1-6 months of age died and half of all deaths occurred within 2 days of admission. Conclusions The study provides, for the first time, an understanding of the admissions and outcomes of the busiest paediatric inpatient unit in East Timor. It emphasises important health system issues which impact on both data quality and hospital outcomes. © 2013 The Authors. Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians)

Additional file 1: Table S1. of Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

DSD gene variants. Each variant found in a diagnostic gene (after the filtering and curation process) is shown. In some cases where the gene is inherited in an autosomal recessive manner, two variants are grouped together. Inheritance has been indicated where familial samples were available: negative indicates negative for variant and N/A sample not available. De novo events have only been noted where both parental samples were available and found to be negative for the change. Previously reported refers to a variant being described in either ClinVar, HGMD, or a publication in a peer-reviewed journal via a PubMed search. Variants were classified consistent with previous MPS publications of DSD cohorts [8, 10] which were based on ACMG guidelines [15]. VUS were called for three reasons: 1 = fits phenotype but predicted to be benign; 2 = damaging but doesn’t fit phenotype; or 3 = variant in the AR repetitive region. Patients marked with an asterisk were identified to have two or more diagnostic gene variants. Null variants (frameshifts, splice sites mutations, and premature stop codons) are shown in bold. Patients have been classified based on clinical notes provided, according to the recommended classification of DSD in the Chicago consensus report. Classifications: CGD complete gonadal dysgenesis, DASA disorders of androgen synthesis or action, DSD DSD of “unknown” origin; hypospadias, LCH Leydig cell hypoplasia, OT ovotesticular DSD, PGD partial gonadal dysgenesis, PMDS persistent Müllerian duct syndrome; syndromic, T testicular DSD. Related affected individuals are indicated. File is in Excel spreadsheet format. (XLSX 47 kb