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Adult phenotypes of genetic developmental and epileptic encephalopathies.
Brain Commun
January 2025
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Developmental and epileptic encephalopathies constitute a group of severe epilepsies, with seizure onset typically occurring in infancy or childhood, and diverse clinical manifestations, including neurodevelopmental deficits and multimorbidities. Many have genetic aetiologies, identified in up to 50% of individuals. Whilst classically considered paediatric disorders, most are compatible with survival into adulthood, but their adult phenotypes remain inadequately understood.
View Article and Find Full Text PDFDevelopment and application of a clinical core data set for deep brain stimulation in Parkinson's disease, dystonia or tremor: from data collection to data exchange and data sharing.
Neurol Res Pract
January 2025
Institute of Clinical Epidemiology and Biometry, Julius-Maximilians-Universität Würzburg (JMU), Haus D7, Josef-Schneider-Straße 2, 97080, Würzburg, Germany.
Background: Comprehensive clinical data regarding factors influencing the individual disease course of patients with movement disorders treated with deep brain stimulation might help to better understand disease progression and to develop individualized treatment approaches.
Methods: The clinical core data set was developed by a multidisciplinary working group within the German transregional collaborative research network ReTune. The development followed standardized methodology comprising review of available evidence, a consensus process and performance of the first phase of the study.
Rhodium-Catalyzed Homogeneous Asymmetric Hydrogenation of Naphthol Derivatives.
J Am Chem Soc
January 2025
National Laboratory for Molecular Sciences, CAS Key Laboratory of Molecular Recognition and Function, Institute of Chemistry, Chinese Academy of Sciences (CAS), Beijing 100190, P. R. China.
Due to their strong aromaticity and difficulties in chemo-, regio-, and enantioselectivity control, asymmetric hydrogenation of naphthol derivatives to 1,2,3,4-tetrahydronaphthols has remained a long-standing challenge. Herein, we report the first example of homogeneous asymmetric hydrogenation of naphthol derivatives catalyzed by tethered rhodium-diamine catalysts, affording a wide array of optically pure 1,2,3,4-tetrahydronaphthols in high yields with excellent regio-, chemo-, and enantioselectivities (up to 98% yield and >99% ee). Mechanistic studies with experimental and computational approaches reveal that fluorinated solvent 1,1,1,3,3,3-hexafluoroisopropanol (HFIP) plays vital roles in the control of reactivity and selectivity, and 1-naphthol is reduced via a cascade reaction pathway, including dearomative tautomerization, 1,4-hydride addition, and 1,2-hydride addition in sequence.
View Article and Find Full Text PDFGenerative artificial intelligence enables the generation of bone scintigraphy images and improves generalization of deep learning models in data-constrained environments.
Eur J Nucl Med Mol Imaging
January 2025
Department of Biomedical Imaging and Image-guided Therapy, Division of Nuclear Medicine, Medical University of Vienna, Spitalgasse 23, Vienna, 1090, Austria.
Purpose: Advancements of deep learning in medical imaging are often constrained by the limited availability of large, annotated datasets, resulting in underperforming models when deployed under real-world conditions. This study investigated a generative artificial intelligence (AI) approach to create synthetic medical images taking the example of bone scintigraphy scans, to increase the data diversity of small-scale datasets for more effective model training and improved generalization.
Methods: We trained a generative model on Tc-bone scintigraphy scans from 9,170 patients in one center to generate high-quality and fully anonymized annotated scans of patients representing two distinct disease patterns: abnormal uptake indicative of (i) bone metastases and (ii) cardiac uptake indicative of cardiac amyloidosis.
A combination of gold nanoparticles and laser photobiomodulation to boost antioxidant defenses in the recovery of muscle injuries caused by Bothrops jararaca venom.
Lasers Med Sci
January 2025
Laboratory of Pathophysiology Experimental, Postgraduate Program in Health Sciences, Universidade do Extremo Sul Catarinense (UNESC), Criciúma, SC, Brazil.
Unlabelled: This study aimed to evaluate gold nanoparticles (GNPs) and photobiomodulation (PBM), associated with antibothropic serum (AS), to treat a muscle lesion induced by Bothrops jararaca venom.
Methods: 108 Swiss male mice were used, divided into nine groups (n = 12) with different combinations of treatments. Animals were inoculated with 250 µg of B.
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