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| http://dx.doi.org/10.5946/ce.2013.46.1.5 | DOI Listing |
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Mapping Trajectories of Gait Recovery in Clinical Stroke Rehabilitation.
Neurorehabil Neural Repair
January 2025
Department of Human Movement Science, Vrije Universiteit Amsterdam, Amsterdam Movement Sciences, Amsterdam, The Netherlands.
Background: How gait changes during the early stages of stoke rehabilitation, and which patient characteristics are associated with these changes is still largely unknown.
Objective: he first objective was to describe the changes in gait during stroke rehabilitation. Secondly, we determined how various patient characteristics were associated with the rate of change of gait over time.
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.
Alzheimers Res Ther
January 2025
Department of Neuroscience "Rita Levi Montalcini", University of Turin, Via Cherasco 15, Turin, 10126, Italy.
Background: Alzheimer's disease (AD) is a progressive neurodegenerative disorder with both genetic and environmental factors contributing to its pathogenesis. While early-onset AD has well-established genetic determinants, the genetic basis for late-onset AD remains less clear. This study investigates a large Italian family with late-onset autosomal dominant AD, identifying a novel rare missense variant in GRIN2C gene associated with the disease, and evaluates the functional impact of this variant.
View Article and Find Full Text PDFTP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.
Genome Med
January 2025
Hereditary Cancer Group, Oncobell Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Av. Gran Via 199-203, L'Hospitalet del Llobregat, 08908, Spain.
Background: Germline heterozygous pathogenic variants (PVs) in TP53 cause Li-Fraumeni syndrome (LFS), a condition associated with increased risk of multiple tumor types. As the associated cancer risks were refined over time, clinical criteria also evolved to optimize diagnostic yield. The implementation of multi-gene panel germline testing in different clinical settings has led to the identification of TP53 PV carriers outside the classic LFS-associated cancer phenotypes, leading to a broader cancer phenotypic redefinition and to the renaming of the condition as "heritable TP53-related cancer syndrome" (hTP53rc).
View Article and Find Full Text PDFSingle-cell transcriptomics unveils multifaceted immune heterogeneity in early-onset versus late-onset cervical cancer.
World J Surg Oncol
January 2025
Department of Oncology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Early-onset (EOCC) and late-onset cervical cancers (LOCC) represent two clinically distinct subtypes, each defined by unique clinical manifestations and therapeutic responses. However, their immunological profiles remain poorly explored. Herein, we analyzed single-cell transcriptomic data from 4 EOCC and 4 LOCC samples to compare their immune architectures.
View Article and Find Full Text PDF2-[F]Fluoropropionic Acid PET Imaging of Doxorubicin-Induced Cardiotoxicity.
Mol Imaging Biol
January 2025
Department of Radiology, Weill Cornell Medicine, 413 E 69th Street, Room BB-1604, New York, NY, 10021, USA.
Purpose: Treatment of pediatric cancers with doxorubicin is a common and predictable cause of cardiomyopathy. Early diagnosis of treatment-induced cardiotoxicity and intervention are major determinants for the prevention of advanced disease. The onset of cardiomyopathies is often accompanied by profound changes in lipid metabolism, including an enhanced uptake of short-chain fatty acids (SCFA).
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