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Respiratory rehabilitation techniques for patients with cystic fibrosis: a protocol for a systematic review and network meta-analysis.
BMJ Open
December 2024
Department of Rehabilitation, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China
Introduction: Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, primarily affecting the respiratory and digestive systems. Respiratory rehabilitation techniques play a crucial role in managing pulmonary symptoms and maintaining lung function in CF patients. Although various techniques have been developed and applied, there is currently no globally recognised optimal respiratory rehabilitation regimen.
View Article and Find Full Text PDFTherapeutic Potential of Ketogenic Interventions for Autosomal-Dominant Polycystic Kidney Disease: A Systematic Review.
Nutrients
December 2024
Centre for Diabetes, Obesity and Endocrinology Research (CDOER), Westmead Institute for Medical Research, Westmead, Sydney, NSW 2145, Australia.
Background: Recent findings have highlighted that abnormal energy metabolism is a key feature of autosomal-dominant polycystic kidney disease (ADPKD). Emerging evidence suggests that nutritional ketosis could offer therapeutic benefits, including potentially slowing or even reversing disease progression. This systematic review aims to synthesise the literature on ketogenic interventions to evaluate the impact in ADPKD.
View Article and Find Full Text PDFRespiratory manifestations of sickle cell disease in children: a comprehensive review for the pediatrician.
Expert Rev Respir Med
January 2025
Department of Surgery, Dentistry, Pediatrics and Gynaecology, Pediatric Division, University of Verona, Verona, Italy.
Introduction: Sickle cell disease (SCD) is an inherited hemoglobinopathy characterized by the production of sickle hemoglobin, leading to red blood cells sickling and hemolysis in hypoxic conditions. The resulting acute and chronic endothelial inflammation leads to chronic organ damage. Respiratory manifestations in SCD usually start from childhood and represent the leading causes of morbidity and mortality.
View Article and Find Full Text PDFDescriptive epidemiology demonstrating the All of Us database as a versatile resource for the rare and undiagnosed disease community.
J Am Med Inform Assoc
December 2024
Department of Biological and Health Sciences, Crown College, St Bonifacius, MN 55375, United States.
Objective: We aim to demonstrate the versatility of the All of Us database as an important source of rare and undiagnosed disease (RUD) data, because of its large size and range of data types.
Materials And Methods: We searched the public data browser, electronic health record (EHR), and several surveys to investigate the prevalence, mental health, healthcare access, and other data of select RUDs.
Results: Several RUDs have participants in All of Us [eg, 75 of 100 rare infectious diseases (RIDs)].
Clinimetric properties of field exercise tests in cystic fibrosis: a systematic review.
Eur Respir Rev
October 2024
Respiratory Research@Alfred, Monash University, Melbourne, Australia
Objectives: Accurate measurement of exercise capacity is an important prognostic indicator for people with cystic fibrosis (pwCF); however, gold-standard, cardiopulmonary exercise tests are commonly unavailable. This review systematically describes the clinimetric properties of field exercise tests for pwCF.
Methods: A systematic review was undertaken for studies reporting field exercise tests in pwCF.
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