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CLN6-related continuum phenotype caused by aberrant splicing.
Epilepsia Open
December 2024
Integrated Diagnostics for Epilepsy, Department of Diagnostic and Technology, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Neuronal ceroid lipofuscinoses (NCLs) are genetically heterogeneous neurodegenerative disorders, characterized by progressive cognitive and motor decline, epilepsy, visual impairment, and shortened life-expectancy. CLN6-related NCLs include both late-infantile and adult myoclonic form. We report a 21-year-old patient, with mild developmental delay, who developed occipital seizures at 14 years, and subsequently cognitive decline, cortical myoclonus, and photosensitivity at low and higher frequencies.
View Article and Find Full Text PDFIdentifying meaningful aspects of health and concepts of interest for assessment in systemic lupus erythematosus: implications for digital clinical measure development.
J Patient Rep Outcomes
December 2024
Department of Rheumatology, Hôpitaux Universitaires de Strasbourg, INSERM UMR-S 1109, Centre National de Référence des Maladies Auto-immunes Systémiques Rares (RESO), Strasbourg, France.
Objectives: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with heterogeneous clinical manifestations which significantly impacts the daily lives of patients. Herein, we aimed to (i) investigate patients' perspectives on and experience with SLE; (ii) identify meaningful aspects of health (MAHs) and concepts of interest (COIs) in SLE that could be evaluated using digital clinical measures (DCMs); and (iii) identify target DCMs for their assessment.
Methods: A mixed-methods, multistep approach was deployed for (i) exploring patients' experience with SLE through a social media listening study and focused group discussions with patients; (ii) mapping patients' experiences to define MAHs and identify COIs measurable using DCMs; (iii) selecting DCMs for the target COIs; and (iv) identifying types of wearable sensors for measuring COIs in the patients.
Assessing Lung Ventilation and Bronchodilator Response in Asthma and Chronic Obstructive Pulmonary Disease with F MRI.
Radiology
December 2024
From the Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom (B.J.P., M.A.N., C.W.H., A.J.S., P.E.T.); Newcastle Magnetic Resonance Centre, Health Innovation Neighbourhood, Newcastle University, Newcastle upon Tyne NE4 5PL, United Kingdom (B.J.P., M.A.N., C.W.H., P.E.T.); Pulmonary, Lung and Respiratory Imaging Sheffield, Section of Medical Imaging and Technologies, Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, United Kingdom (A.M.M., J.M.W.); Department of Respiratory Medicine, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (I.F.); Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, United Kingdom (R.A.L.); Population Health Sciences Institute, Newcastle University, Newcastle upon Tyne, United Kingdom (H.F.F., J.N.S.M.); and Insigneo Institute, University of Sheffield, Sheffield, United Kingdom (J.M.W.).
Background Pulmonary function tests are central to diagnosis and monitoring of respiratory diseases but do not provide information on regional lung function heterogeneity. Fluorine 19 (F) MRI of inhaled perfluoropropane permits quantitative and spatially localized assessment of pulmonary ventilation properties without tracer gas hyperpolarization. Purpose To assess regional lung ventilation properties using F MRI of inhaled perfluoropropane in participants with asthma, participants with chronic obstructive pulmonary disease (COPD), and healthy participants, including quantitative evaluation of bronchodilator response in participants with respiratory disease.
View Article and Find Full Text PDFHuman pluripotent stem cell (hPSC)-derived models for autism spectrum disorder drug discovery.
Expert Opin Drug Discov
December 2024
Donald K. Johnson Eye Institute, Krembil Research Institute, University Health Network, Toronto, ON, Canada.
Introduction: Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder (NDD) with genetic and environmental origins. Currently, there are no effective pharmacological treatments targeting core ASD features. This leads to unmet medical needs of individuals with ASD and requires relevant human disease models recapitulating genetic and clinical heterogeneity to better understand underlying mechanisms and identify potential pharmacological therapies.
View Article and Find Full Text PDFEffects of Educational Interventions Designed to Develop Physical Therapist Learners' Clinical Reasoning: A Systematic Review.
Phys Ther
December 2024
Northwell, New Hyde Park, NY, United States.
Objective: The objective of this systematic review was to investigate the effects of educational interventions designed to develop physical therapist learners' clinical reasoning across the full continuum of professional development.
Data Sources: A systematic search was conducted of 6 databases, the entire Journal of Physical Therapy Education collection, and the reference lists of included articles through March 2022.
Study Selection: English-language primary relevant research studies of all research designs were included while grey literature was excluded.
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