Aim: To describe the neurodevelopment and quality of life in SLC13A5 (solute carrier family 13 member 5) citrate transporter disorder (developmental and epileptic encephalopathy 25, DEE25), a rare genetic early infantile epileptic encephalopathy caused by deficiency of a sodium-citrate transporter, characterized by heavy seizure burden in the neonatal period.
Method: We analyzed longitudinal neurodevelopmental outcomes from a prospective natural history study of DEE25, using standardized assessments of Mullen Scales of Early Learning, Peabody Developmental Motor Scales, and Vineland Adaptive Behavior Scales.
Results: There was significant global impairment across the cohort, with variable quality of life and limited genotype-phenotype correlation.
Science-informed decisions are best guided by the objective synthesis of the totality of evidence around a particular question and assessing its trustworthiness through systematic processes. However, there are major barriers and challenges that limit science-informed food and nutrition policy, practice, and guidance. First, insufficient evidence, primarily due to acquisition cost of generating high-quality data, and the complexity of the diet-disease relationship.
View Article and Find Full Text PDFBackground: Child poverty remains a major global concern and a child's experience of deprivation is heavily shaped by where they live and the stability of their local neighbourhood. This study examines frequencies and patterns of residential mobility in children and young people (CYP) at a population level using novel geospatial techniques to assess how often their physical environment changes and to identify geographical variations in social mobility.
Methods: We used routinely collected administrative records held in the Secure Anonymised Information Linkage (SAIL) Databank for CYP aged under 18 years living in Wales between 2012 and 2022.
Context: The Bigfoot Unity Diabetes Management System integrates Abbott FreeStyle Libre 2 continuous glucose monitoring (CGM) data into a smart pen cap and mobile app enabling clinician-directed insulin dose recommendations and real-time alerts.
Objective: The objective was to analyze real world 6-month glycemic control in a prospective study for individuals using the System for multiple daily insulin injections (MDI).
Methods: We conducted a 6-month analysis from the BURST study (NCT05088265) of individuals with type 1 or type 2 diabetes (T2D).