Publications by authors named "Lucian de Souza"
Article Synopsis
- - The study evaluated the use of whole genome sequencing (WGS) as a first-step diagnostic tool for critically ill infants in Brazilian neonatal intensive care units, with collaboration between private and public hospitals.
- - In a cohort of 21 infants suspected of genetic diseases, WGS provided a diagnostic yield of 57%, identifying various genetic variants, including 10 novel ones not found in existing databases.
- - The research highlighted the advantages of WGS over traditional genetic tests in diagnosing conditions like dysmorphic syndromes while also discussing the challenges and potential implications of integrating WGS into Brazil's healthcare system.
Background: Unlicensed (UL) and Off-label (OL) prescription of medications is common in paediatrics and does not constitute negligent practice since there is often no approved alternative according to FDA bulary.
Aim: The study aimed to determine the current frequency of UL and OL prescriptions in children from one month to 12 years of age in a Paediatric Inpatient Unit (PIU).
Methods: This is an observational, prospective study, reviewing the prescriptions of all patients admitted to the PIU in a university hospital in a single week in August 2014 and a single week in January 2015.
Systemic lupus erythematosus (SLE) treatments progress over the years. However, the mortality remains higher than in the general population. Few studies have examined SLE patients' survival in Brazil.
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