BACKGROUND: Assessing dietary phenylalanine (Phe) tolerance is crucial for managing hyperphenylalaninemia (HPA) in children. However, traditionally, adjusting the diet requires significant time from clinicians and parents. This study aims to investig...
Cellular and molecular life sciences : CMLS
Sep 10, 2024
AIM: The availability of disease-modifying therapies and newborn screening programs for spinal muscular atrophy (SMA) has generated an urgent need for reliable prognostic biomarkers to classify patients according to disease severity. We aim to identi...
INTRODUCTION: Hemophagocytic lymphohistiocytosis (HLH) is a rare, complicated and life threatening hyperinflammatory syndrome that maybe triggered by various infectious agents, malignancies and rheumatologic disorders. Early diagnosis and identificat...
OBJECTIVE: The diagnosis of Gaucher disease (GD) presents a major challenge due to the high variability and low specificity of its clinical characteristics, along with limited physician awareness of the disease's early symptoms. Early and accurate di...
Proceedings of the National Academy of Sciences of the United States of America
Sep 6, 2024
Inflammatory syndromes, including those caused by infection, are a major cause of hospital admissions among children and are often misdiagnosed because of a lack of advanced molecular diagnostic tools. In this study, we explored the utility of circul...
To evaluate electrical impedance myography (EIM) in conjunction with machine learning (ML) to detect infantile spinal muscular atrophy (SMA) and disease progression.. Twenty-six infants with SMA and twenty-seven healthy infants had been enrolled and ...
A social individual needs to effectively manage the amount of complex information in his or her environment relative to his or her own purpose to obtain relevant information. This paper presents a neural architecture aiming to reproduce attention mec...
BACKGROUND: Delayed breastfeeding initiation is a significant public health concern, and reducing the proportion of delayed breastfeeding initiation in East Africa is a key strategy for lowering the Child Mortality rate. However, there is limited evi...
Revista da Associacao Medica Brasileira (1992)
Aug 30, 2024
OBJECTIVE: The primary objective was to assess the diagnostic accuracy of a deep learning-based artificial intelligence model for the detection of acute appendicular fractures in pediatric patients presenting with a recent history of trauma to the em...
BACKGROUND: The purpose of this study was to develop and validate a mortality risk algorithm for pediatric surgery patients treated at KidsOR sites in 14 low- and middle-income countries.