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REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and Structural Modeling of One Index Case.
Genet Test Mol Biomarkers
January 2025
PTC Therapeutics Germany GmbH, Frankfurt, Germany.
The main objective of this prospective, multicenter study (REVEAL-CP) was to test children with cerebral palsy-like signs and symptoms for raised 3--methyldopa (3-OMD) blood levels, a biomarker for aromatic L-amino acid decarboxylase deficiency (AADCd). A secondary objective was to characterize the molecular basis for the defective aromatic L-amino acid decarboxylase (AADC) gene product. Patients were identified in pediatric secondary and tertiary care hospitals through database searches and personal communication.
View Article and Find Full Text PDFAssessing and Enhancing Nutrition and Physical Activity Environments in Early Childhood Education and Care Centers: Scoping Review of eHealth Tools.
JMIR Pediatr Parent
January 2025
Department of Health and Physical Education, Mount Royal University, Calgary, AB, Canada.
Background: Early childhood is a critical period for shaping lifelong health behaviors, making early childhood education and care (ECEC) environments ideal for implementing nutrition and physical activity interventions. eHealth tools are increasingly utilized in ECEC settings due to their accessibility, scalability, and cost-effectiveness, demonstrating promise in enhancing educators' practices. Despite the potential effectiveness of these eHealth approaches, a comprehensive collection of available evidence on eHealth tools designed to assess or support best practices for nutrition or physical activity in ECECs is currently lacking.
View Article and Find Full Text PDFDe novo design of peptide binders to conformationally diverse targets with contrastive language modeling.
Sci Adv
January 2025
Department of Biomedical Engineering, Duke University, Durham, NC, USA.
Designing binders to target undruggable proteins presents a formidable challenge in drug discovery. In this work, we provide an algorithmic framework to design short, target-binding linear peptides, requiring only the amino acid sequence of the target protein. To do this, we propose a process to generate naturalistic peptide candidates through Gaussian perturbation of the peptidic latent space of the ESM-2 protein language model and subsequently screen these novel sequences for target-selective interaction activity via a contrastive language-image pretraining (CLIP)-based contrastive learning architecture.
View Article and Find Full Text PDFInfluence of Insertion/Deletion Polymorphism of the Angiotensin Converting Enzyme Gene on Adiposity and Cardiac Function in Patients with Heart Failure.
Arq Bras Cardiol
January 2025
Programa de Pós-Graduação em Alimentação, Nutrição e Saúde - Universidade Federal do Rio Grande do Sul, Porto Alegre, RS - Brasil.
Background: The angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism (rs4340) is associated with the pathogenesis of heart failure (HF). This polymorphism may contribute to a greater propensity for severe HF and excess weight.
Objective: To evaluate adiposity, cardiac function, and their association with ACE I/D polymorphism in HF patients.
Association of the combination of corporal adiposity and cardiorespiratory fitness with cardiometabolic risk factors in children - PREVOI Study.
Rev Paul Pediatr
January 2025
Universidade Federal do Espírito Santo, Programa de Pós-Graduação Nutrição e Saúde, Vitória, ES, Brazil.
Objective: To assess the association between the combination of corporal adiposity (CA) and cardiorespiratory physical fitness (CRF) with cardiometabolic risk factors in children aged 7-10 years.
Methods: Cross-sectional observational study with a sample of 251 children registered in Family Health Units. Sociodemographic, lifestyle, anthropometric, biochemical, blood pressure, and CRF data were collected.
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