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Longitudinal data collection in pediatric and adult patients with 5q spinal muscular atrophy in Latin America: LATAM RegistrAME study - a clinical registry study protocol.
Einstein (Sao Paulo)
December 2024
Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
Spinal muscular atrophy is a rare hereditary neurodegenerative disease characterized by progressive motor neuron loss. The most common form of SMA is linked to 5q (5q-SMA) and is classified into subtypes according to the age of onset and maximum motor function achieved. The severity ranges from progressive infantile paralysis and premature death (type 1) to limited motor neuron loss in adults (type 4).
View Article and Find Full Text PDFRoutine pulmonary lung function tests: Interpretative strategies and challenges.
Chron Respir Dis
December 2024
Farhat HACHED Hospital, Laboratory of Physiology and Functional Explorations, University of Sousse, Sousse, Tunisia.
The diagnosis and management of common chronic respiratory diseases depend on various parameters obtained from pulmonary function tests (PFTs), such as spirometry, plethysmography, and carbon monoxide diffusion capacity (DLCO). These tests are interpreted following guidelines established by reputable scientific societies like the European Respiratory Society and the American Thoracic Society (ERS/ATS). This review aimed to offer a comprehensive framework for interpreting PFTs, incorporating the latest ERS/ATS update (i.
View Article and Find Full Text PDFLung function in adult patients with osteogenesis imperfecta: a cohort study.
Orphanet J Rare Dis
December 2024
Respiratory Medicine Department, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Background: Osteogenesis imperfecta (OI) is a rare hereditary bone disease resulting from a defect in collagen synthesis or processing, leading to bone fragility, frequent fractures and skeletal deformities. OI is associated with increased respiratory morbidity and mortality, but the mechanisms of lung involvement are poorly understood, and there are no data on the natural history of lung function. We studied lung function over time in a cohort of adult OI patients at one center.
View Article and Find Full Text PDFIdentification and validation of respiratory subphenotypes in patients with COVID-19 acute respiratory distress syndrome undergoing prone position.
Ann Intensive Care
November 2024
Evandro Chagas National Institute of Infectious Diseases, Oswaldo Cruz Foundation (INI-Fiocruz), Rio de Janeiro, RJ, Brazil.
Article Synopsis
- Researchers examined COVID-19 patients with acute respiratory distress syndrome (ARDS) to discover distinct respiratory subphenotypes to improve treatment strategies.
- A total of 718 ventilated patients were analyzed, revealing two main subphenotypes: Subphenotype A and B, with Subphenotype B showing poorer respiratory function and higher mortality risk.
- Subphenotype B was characterized by higher levels of inflammation and comorbidities, as well as being more prevalent in female patients, indicating the need for tailored management approaches in ARDS treatment.
Obstructive Ventilatory Dysfunctions-Functional Assessment and Rehabilitation Program.
Curr Health Sci J
June 2024
Department of Physical and Rehabilitation Medicine, University of Medicine and Pharmacy of Craiova, Romania.
Background: Obstructive ventilatory dysfunctions have an increased incidence, and through functional assessment determined by the International Classification of Functioning, Disability and Health (ICF), appropriate treatment can be established.
Aims: The objectives of our research are represented by the application of respiratory rehabilitation sessions according to the ICF in patients with obstructive ventilatory dysfunctions-with COPD or asthma, using a unique, international language and the evaluation of the results obtained before and after completion pulmonary rehabilitation.
Methods: We conducted a randomized prospective study between November 2022-April 2023, which included 84 patients diagnosed with obstructive ventilatory dysfunctions and who performed respiratory rehabilitation.
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