Results 231 to 240 of about 103,574 (304)

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina   +6 more
wiley   +1 more source

Diaphragmatic plication for iatrogenic respiratory insufficiency after cardiothoracic surgery. [PDF]

open access: yesJ Thorac Dis, 2019
Uchida T   +7 more
europepmc   +1 more source

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking   +6 more
wiley   +1 more source

Beyond the Lung. Impact of Elexacaftor/Tezacaftor/Ivacaftor on Sinonasal Disease in Children With Cystic Fibrosis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Elexacaftor/tezacaftor/ivacaftor (ETI) is a Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) therapy that improves pulmonary function and chronic rhinosinusitis (CRS) in cystic fibrosis (CF) adults with at least one copy of the F508del CFTR mutation.
Margaux Petitjean   +16 more
wiley   +1 more source

Deficiency of DEK proto‐oncogene alleviates allergic rhinitis by inhibiting RhoA/Ezrin‐mediated mitochondrial fission

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Schematic diagram of the mechanism of DEK regulating RhoA activation Ezrin. Upon house dust mite (HDM) stimulation, HDM‐specific immunoglobulin E (IgE) and inflammatory factors such as interleukin 4 (IL‐4), IL‐5, IL‐13, and eosinophils increased in the nasal mucosa.
Longzhu Dai   +8 more
wiley   +1 more source

Mechanical Ventilation and Extracorporeal Membrane Oxygena tion in Acute Respiratory Insufficiency. [PDF]

open access: yesDtsch Arztebl Int, 2018
Fichtner F   +6 more
europepmc   +1 more source

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