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Functional impairment in COPD can be predicted using genomic-derived data.
Thorax
January 2025
Genome Medicine Laboratory, Institute of Biomedicine (iBiMED), Department of Medical Sciences, University of Aveiro, Aveiro, Portugal
Objective: Reduced functional capacity and muscle weakness are two major contributors to functional impairment in chronic obstructive pulmonary disease (COPD). The underlying causes of functional impairment are poorly understood and, therefore, we sought to investigate the contribution of genetic factors.
Methods: We conducted a cross-sectional analysis of sociodemographic, clinical and genetic information of people with COPD.
Development and testing the psychometric properties of 20 bolt-on items for the EQ-5D-5L across 31 rare diseases.
Value Health
January 2025
Department of Cardiology and State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Objective: Our objective was to develop and assess the psychometric properties of relevant bolt-on items for the EQ-5D-5L in patients with rare diseases (RDs).
Methods: Nineteen new EQ-5D-5L bolt-ons were developed based on literature review, expert input and qualitative interviews and focus groups with patients, caregivers and representatives of patient associations. A nationwide, cross-sectional, web-based survey in China included patients or caregivers of patients with 31 RDs in China (n=9,190).
Management of presymptomatic juvenile patients with late-onset Pompe disease (LOPD).
Neuromuscul Disord
January 2025
ERN-NMD Center for Neuromuscular Disorders of Messina - Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. Electronic address:
Late-onset Pompe disease (LOPD) includes patients from 1 year of age to adulthood. The vast heterogeneity in clinical manifestations and disease progression is not fully explained; however, a short disease duration and a young age seem to be good predictors of a better response to treatment. For this purpose, we investigated and followed up a cohort of 13 juvenile patients with LOPD from the clinical and therapeutic point of view, mainly pointing out the transition from presymptomatic to symptomatic status.
View Article and Find Full Text PDFEvaluation of online videos and websites on inspiratory muscle training for individuals with chronic lung disease.
Respir Med
January 2025
Toronto General Hospital Research Institute, University Health Network, Toronto, ON, Canada; Division of Respirology, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada. Electronic address:
Background: Inspiratory muscle training (IMT) is an effective rehabilitation modality for individuals with chronic lung disease. IMT can improve dyspnea, exercise capacity, and health-related quality of life. Online resources are common sources of health information for individuals.
View Article and Find Full Text PDFAcute effects of voluntary breathing patterns on postural control during walking.
Hum Mov Sci
January 2025
Sports Physical Therapy Laboratory, School of Physical Education and Sports Science, National and Kapodistrian University of Athens, Greece. Electronic address:
Introduction: Breathing and postural control is reported to be both neuromuscularly and mechanically interdependent. To date, the effects of voluntary abdominal and thoracic breathing (VAB and VTB) on the EMG activity of muscles involved in both respiratory and postural functions, as well as gait biomechanics related to these breathing patterns, have not been investigated in young, healthy adults. The aim of the study was to evaluate the EMG responses of neck and trunk muscles, as well as the kinematic, stability, and kinetic parameters of gait induced by VAB and VTB compared to involuntary breathing (INB).
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