Background: Multiple sclerosis (MS) is divided into Relapsing-Remitting (RRMS) and Progressive (PMS) phenotypes, both associated with spinal cord (SC) damage. MS-related disability and SC atrophy are not yet fully understood and can differ across phenotypes. A combined approach using Positron Emission Tomography (PET) and Magnetic Resonance Imaging (MRI) could provide a broader understanding of myelin changes in the cervical SC (CSC) in different MS phenotypes and the associations with disability.
View Article and Find Full Text PDFPurpose: Genomic sequencing of newborns (NBSeq) can initiate disease surveillance and therapy for children, and may identify at-risk relatives through reverse cascade testing. We explored genetic risk communication and reverse cascade testing among families of newborns who underwent exome sequencing and had a risk for autosomal dominant disease identified.
Methods: We conducted semi-structured interviews with parents of newborns enrolled in the BabySeq Project who had a pathogenic or likely-pathogenic (P/LP) variant associated with an autosomal dominant (AD) childhood- and/or adult-onset disease returned.
An automatic system for pathology classification in chest X-ray scans needs more than predictive performance, since providing explanations is deemed essential for fostering end-user trust, improving decision-making, and regulatory compliance. CLARE-XR is a novel methodology that, when presented with an X-ray image, identifies the associated pathologies and provides explanations based on the presentation of similar cases. The diagnosis is achieved using a regression model that maps an image into a 2D latent space containing the reference coordinates of all findings.
View Article and Find Full Text PDFChildren's fundamental movement skills (FMS) require planned and guided interventions to develop appropriately. We investigated the effect of a novel Physical Education (PE) method to develop children's object control, locomotor skills, and motor competence. Further, we examined children's trainability, i.
View Article and Find Full Text PDFFascioliasis is a zoonotic disease that may affect humans as incidental hosts after the ingestion of contaminated water or aquatic plants. Despite the non-specificity of its signs and symptoms, a triad of abdominal pain, fever, and peripheral eosinophilia should increase suspicion. The diagnosis of fascioliasis can be particularly difficult in non-endemic countries.
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