Mucociliary dysfunction can be caused by the absence of cilia or by abnormalities in their ultrastructure. A family in which some members were suffering from respiratory morbidity due to lack of cilia is described.
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http://dx.doi.org/10.1136/adc.75.1.76 | DOI Listing |
Virology
January 2025
LKC School of Medicine, Nanyang Technological University, 11 Mandalay Road, Singapore, 308232, Republic of Singapore.
Respiratory syncytial virus (RSV) particle assembly occurs on the surface of infected cells at specialized membrane domain called lipid rafts. The mature RSV particles assemble as filamentous projections called virus filaments, and these structures form on the surface of many permissive cell types indicating that this is a robust feature of the RSV particle assembly. The virus filaments also form on nasal airway organoids systems providing evidence that these structures also have a clinical relevance.
View Article and Find Full Text PDFEnviron Res
January 2025
Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.
Background: Air pollution has been linked to respiratory diseases, while the effects of greenness remain inconclusive.
Objective: We investigated the associations between exposure to particulate matter (PM and PM), black carbon (BC), nitrogen dioxide (NO), ozone (O), and greenness (normalized difference vegetation index, NDVI) with respiratory emergency room visits and hospitalizations across seven Northern European centers in the European Community Respiratory Health Survey (ECRHS) study.
Methods: We used modified mixed-effects Poisson regression to analyze associations of exposure in 1990, 2000 and mean exposure 1990-2000 with respiratory outcomes recorded duing ECRHS phases II and III.
Int J Environ Res Public Health
January 2025
Department of Learning Health Sciences, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Background: Neonatal jaundice (NNJ) remains a leading cause of newborn mortality in much of sub-Saharan Africa. We sought to examine the validity of using a hand-held icterometer as a screening tool to determine which newborns need further assessment. Additionally, we sought to assess the feasibility of its use among mothers.
View Article and Find Full Text PDFClin Genet
December 2024
Univ. Lille, CHU Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, CRMR Déficiences Intellectuelles de Causes Rares, Lille, France.
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) is a rare autosomal dominant syndrome caused by pathogenic variants in the BRPF1 gene, which is critical for chromatin regulation. This study expands the clinical and molecular spectrum of IDDDFP by analysing 29 new patients from 20 families with confirmed BRPF1 variants. Our cohort presented with a wide range of clinical features including developmental delay, intellectual disability (ID) and characteristic dysmorphic facial features such as ptosis, blepharophimosis and a broad nasal bridge.
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