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Quality of life in patients with spinal muscular atrophy in Brazil: patient self-assessment and carer perception.
Rev Paul Pediatr
January 2025
Universidade Federal do Paraná, Curitiba, Paraná, Brazil.
Objectives: The aim of this study was to assess the perception of quality of life of patients with spinal muscular atrophy (SMA) and investigate whether there is a correlation between patients' perception and that of their carers.
Methods: Cross-sectional analytical observational study. In the first part, socioeconomic, demographic, clinical, and treatment information were collected from patients diagnosed with SMA, regardless of type, sex, or age.
Predicting ALS informant distress from cognitive and behavioural change in people with ALS.
J Neurol
January 2025
Department of Psychology, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Background: The cognitive and behavioural changes that occur in around 50% of people with amyotrophic lateral sclerosis (ALS) may significantly affect people around them, contributing to heightened burden, anxiety, and depression. Despite existing evidence linking behavioural impairment to caregiver distress, the role of cognitive impairment remains less clear, with mixed findings on its impact.
Methods: This study assessed the influence of cognitive and behavioural impairments in people with ALS on the distress of their nominated informants.
Diffuse Pulmonary Ossification (DPO) in the Setting of Firefighter Occupation.
Cureus
December 2024
Pulmonology, Piedmont Medical Center, Rock Hill, USA.
A 76-year-old man with a past occupational history as a firefighter and construction worker presented at an urgent care center with signs and symptoms of chronic dry cough, exertional dyspnea, and fatigue. His initial chest X-ray showed interstitial thickening in the middle and lower lobes with pulmonary infiltrates bilaterally. The patient was treated with an outpatient course of antibiotics.
View Article and Find Full Text PDFAn exploratory qualitative assessment of patient and clinician perspectives on patient-reported outcome measures and disease-modifying therapies in adults with spinal muscular atrophy.
J Rehabil Med
January 2025
Stan Cassidy Centre for Rehabilitation, Horizon Health Network, Fredericton, New Brunswick, Canada; Dalhousie Medicine New Brunswick, Dalhousie University, Saint John, New Brunswick, Canada.
Objective: To understand patient, caregiver, and clinician perspectives on patient-reported outcome measures, critical functional domains, and disease-modifying therapies in adult spinal muscular atrophy.
Design: An exploratory qualitative single-site study.
Patients: Ten adults with spinal muscular atrophy and two clinicians participated in semi-structured interviews.
Offering reproductive genetic carrier screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome: Views of Victorian general practitioners.
Aust J Gen Pract
December 2024
PhD, GDipGenetCouns, Honorary Principal Fellow, Department of Paediatrics, University of Melbourne, Melbourne, Vic; Associate Professor, Head of Service Development, Reproductive Genetics and Group Leader @ Reproductive Genetic Counselling, Victorian Clinical Genetics Services, Murdoch Children@s Research Institute, Melbourne, Vic
Background And Objectives: The Royal Australian College of General Practice recommends that all women contemplating pregnancy or in early pregnancy should be offered reproductive genetic carrier screening (RGCS). In November 2023, a new Medicare item number was introduced for RGCS to detect cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS) carrier status. The role of general practice in offering RGCS is recognised as being of crucial importance, but only a minority of general practitioners (GPs) are offering such screening.
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