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Metab Brain Dis
January 2025
Programa de Pós-Graduação em Ciências Farmacêuticas, Universidade Federal do Rio Grande do Sul, Avenida Ipiranga, 2752, Porto Alegre, CEP 90610-000, RS, Brazil.
Phenylketonuria is a genetic disorder characterized by high phenylalanine levels, the main toxic metabolite of the disease. Hyperphenylalaninemia can cause neurological impairment. In order to avoid this symptomatology, patients typically follow a phenylalanine-free diet supplemented with a synthetic formula that provides essential amino acids, including L-carnitine.
View Article and Find Full Text PDFInt J Soc Psychiatry
January 2025
Department of Clinical and Experimental Medicine, University of Foggia, Italy.
United European Gastroenterol J
January 2025
Sheba Medical Center, Institute of Gastroenterology, Ramat-Gan, Israel.
Background: The Montreal classification has been widely used in Crohn's disease since 2005 to categorize patients by the age of onset (A), disease location (L), behavior (B), and upper gastrointestinal tract and perianal involvement. With evolving management paradigms in Crohn's disease, we aimed to assess the performance of gastroenterologists in applying the Montreal classification.
Methods: An online survey was conducted among participants at an international educational conference on inflammatory bowel diseases.
J Neurochem
January 2025
Suzhou Municipal Key Laboratory of Neurobiology and Cell Signaling, School of Science, Xi'an Jiaotong-Liverpool University, Suzhou, China.
Epitranscriptomic regulation of cell functions involves multiple post-transcriptional chemical modifications of coding and non-coding RNA that are increasingly recognized in studying human brain disorders. Although rodent models are presently widely used in neuroepitranscriptomic research, the zebrafish (Danio rerio) has emerged as a useful and promising alternative model species. Mounting evidence supports the importance of RNA modifications in zebrafish CNS function, providing additional insights into epitranscriptomic mechanisms underlying a wide range of brain disorders.
View Article and Find Full Text PDFJ Appl Res Intellect Disabil
January 2025
Tranzo, Tilburg School of Social and Behavioral Sciences, Tilburg University, Tilburg, The Netherlands.
Background: The Needs Assessment Framework (NAF) stimulates awareness of care staff to consider perspectives of clients with intellectual disabilities in decisions on involuntary care. We explored the effect of implementers' participation in a Virtual Community-of-Practice (VCoP) for designing implementation plans, on NAF implementation and staff awareness.
Method: A quasi-experimental design was used to compare implementation and awareness by care staff (n = 54) between organisations that implemented NAF with VCoP participation (N = 4) and organisations that implemented NAF as usual (N = 3).
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