Disorders of mucociliary clearance, such as cystic fibrosis (CF), primary ciliary dyskinesia (PCD) and bronchiectasis of unknown origin, are characterised by periods with increased respiratory symptoms, referred to as pulmonary exacerbations. These exacerbations are hard to predict and associated with lung function decline and the loss of quality of life. To optimise treatment and preserve lung function, there is a need for non-invasive and reliable methods of detection.
View Article and Find Full Text PDFBackground: Fetal growth restriction (FGR) can negatively affect lung development, leading to increased respiratory morbidity and reduced lung function later in life. Studies regarding the impact of FGR on lung function in singletons are influenced by genetic, obstetric, and maternal factors. To overcome these confounding factors, we aim to investigate lung function in identical twins with selective FGR (sFGR).
View Article and Find Full Text PDFAm J Med Genet C Semin Med Genet
March 2022
Primary ciliary dyskinesia (PCD) is a heterogeneous disease, with impaired mucociliary clearance causing respiratory tract infections. A founding CCDC114 mutation has led to a relatively homogeneous and large Dutch PCD population in Volendam. Our aim was to describe their phenotype.
View Article and Find Full Text PDFUnlabelled: The number of children on commercial aircrafts is rising steeply and poses a need for their treating physicians to be aware of the physiologic effects and risks of air travel. The most important risk factors while flying are a decrease in partial oxygen pressure, expansion of trapped air volume, low cabin humidity, immobility, recirculation of air and limited options for medical emergencies. Because on-board medical emergencies mostly concern exacerbations of chronic disease, the medical history, stability of current disease and previous flight experience should be assessed before flight.
View Article and Find Full Text PDFContext: Transient hypothyroxinemia of prematurity (THoP) has been associated with neurodevelopmental impairment in infancy and childhood. It is not known whether these relations persist into adulthood.
Objective: The objective was to examine whether there is an effect of THoP on intelligence quotient (IQ) score and motor functioning at a young adult age.
Background: Mannose-binding lectin (MBL) can activate the complement system by binding to carbohydrates, such as those presented on the HIV virion surface. It is unclear whether genetically determined MBL deficiency is related to vertical HIV transmission and disease progression in HIV-infected children.
Methods: A literature search of Medline, Embase and Cochrane Central Register identified all relevant studies on MBL and HIV infection in children.