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Introduction of Ivacaftor/Lumacaftor in Children With Cystic Fibrosis Homozygous for F508del in the Netherlands: A Nationwide Real-Life Study.
Pediatr Pulmonol
January 2025
Beatrix Children's Hospital Department of Pediatric Pulmonology and Pediatric Allergy, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Introduction: Lumacaftor/ivacaftor (lum/iva) was introduced in the Netherlands in 2017. We investigated 1-year efficacy of lum/iva on lung function and small airway and structural lung disease evaluated by multiple breath nitrogen washout and CT scan. Additionally, we investigated effects of lum/iva on exacerbations, anthropometry, sweat chloride and safety in children with CF in the Netherlands.
View Article and Find Full Text PDFLongitudinal changes in the 6-minute walk test and the Glittre-activities of daily living test in adults with cystic fibrosis.
Monaldi Arch Chest Dis
January 2025
Postgraduate Program in Medical Sciences, State University of Rio de Janeiro; Piquet Carneiro Polyclinic, State University of Rio de Janeiro; Rehabilitation Sciences Postgraduate Program, Augusto Motta University Centre, Rio de Janeiro.
With the increasing use of highly effective modulator therapy (HEMT) in adults with cystic fibrosis (awCF), it is necessary to determine the evolution of the most dynamic physiological markers of this disease, such as the 6-minute walk test (6MWT) and the Glittre-activities of daily living test (TGlittre). The present study aimed to evaluate the 1-year changes in the 6- minute walking distance (6MWD), TGlittre time, and quality of life (QoL) in awCF before the initiation of HEMT and to determine the impact of habitual physical activity (HPA) and chest physiotherapy (CP). This longitudinal study enrolled 24 awCF who completed the 6MWT and TGlittre.
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 PDFClinicopathological Characteristics and Long-Term Outcomes of Cystic vs. Solid Pancreatic Neuroendocrine Tumors: A Multi-Institutional Experience with 1727 Patients.
Ann Surg
January 2025
Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Objective: To investigate the clinicopathological features and long-term outcomes of cystic and solid pancreatic neuroendocrine tumors (PanNETs).
Summary Background Data: PanNETs uncommonly present as cystic lesions. Whether cystic PanNETs represent a distinct clinical entity compared to solid PanNETs is controversial.
Regulation of INPP5E in Ciliogenesis, Development, and Disease.
Int J Biol Sci
January 2025
Department of Basic & Translational Sciences, School of Dental Medicine, University of Pennsylvania, USA.
Inositol polyphosphate-5-phosphatase E (INPP5E) is a 5-phosphatase critically involved in diverse physiological processes, including embryonic development, neurological function, immune regulation, hemopoietic cell dynamics, and macrophage proliferation, differentiation, and phagocytosis. Mutations in cause Joubert and Meckel-Gruber syndromes in humans; these are characterized by brain malformations, microphthalmia, situs inversus, skeletal abnormalities, and polydactyly. Recent studies have demonstrated the key role of INPP5E in governing intracellular processes like endocytosis, exocytosis, vesicular trafficking, and membrane dynamics.
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