Results 331 to 340 of about 1,393,459 (386)

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

American 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, Sonia Khirani, Lucie Griffon, Clément Poirault, Raffaella Nenna, Fabio Midulla, Brigitte Fauroux   +6 more
wiley   +1 more source

Respiratory insufficiency and fatigue of respiratory muscles.

Nihon Naika Gakkai Zasshi, 1994
openaire   +2 more sources

Abstract P-516: RESPIRATORY INSUFFICIENCY OR INFECTIONS AS A COMMON CAUSE FOR MORBIDITY IN DRAVET SYNDROME

, 2018
Konstantinos Tziouvas, Maria Machaira, E. Goula, George Vartzelis, J. Papadatos   +4 more
openalex   +1 more source

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

American 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, Yu An, Weimin Bi, Katrin Hinderhofer, Susanne Theiß, Anne Slavotinek, Christian P. Schaaf   +6 more
wiley   +1 more source

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

International 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, Alexia Letierce, Anne‐Sophie Bonnel, Philippe Reix, Eric Deneuville, Nathalie Stremler, Romain Luscan, Vincent Couloigner, Laurent Mely, Katia Bessaci, Guillaume Labbe, Christophe Marguet, Mairead Kelly‐Aubert, Fatiha Hassani, Isabelle Sermet‐Gaudelus, François Simon, the MODUL‐CF Study Group   +16 more
wiley   +1 more source

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

Animal 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, Yongde Jin, Jingmei Chai, Jianing Yang, Jiangang Wang, Mu Chen, Liangchang Li, Chongyang Wang, Guanghai Yan   +8 more
wiley   +1 more source

A 31-Year-Old Man with Slowly Progressive Limb Muscle Weakness and Respiratory Insufficiency. [PDF]

Brain Pathol, 2018
Uruha A, Hayashi YK, Mori-Yoshimura M, Oya Y, Kanai M, Murata M, Nishino I.   +6 more
europepmc   +1 more source

In vivo toxic and lethal cardiorespiratory effects of a synthetic quaternary ammonium salt derivative of haloperidol in mice

Animal Models and Experimental Medicine, EarlyView.
Hematoxylin–eosin (H&E) stains of the heart, liver, lung, and kidney show acute toxicity. Abstract Background To investigate the toxicity of N‐n‐butyl haloperidol iodide (F2), a quaternary ammonium salt derivative of haloperidol, in mice for potential therapeutic purposes. Methods The acute median lethal dose (LD50) of F2 was determined using the Bliss
Jilin Liao, Binger Lu, Jinhua Yang, Xiaowan Wang, Shuxian Li, Hongbo Fu, Fenfei Gao   +6 more
wiley   +1 more source

Early functional and structural hippocampal impairment in a bilateral common carotid artery stenosis mouse model

Animal Models and Experimental Medicine, EarlyView.
Our study used behavioral tests, laser speckle flowmetry, long‐term potentiation, histochemical staining, molecular experiments, and voxel‐based morphometry to evaluate the hippocampal impairments. It demonstrates early functional and structural impairments in the hippocampus contributing to learning and memory deficits after 1 month of BCAS ...
Ping Tang, Yi Sun, Chunsheng Yang, Nan Zhang   +3 more
wiley   +1 more source

Progress in research on osteoporosis secondary to SARS‐CoV‐2 infection

Animal Models and Experimental Medicine, EarlyView.
This review explores the potential mechanisms, complications, risk factors, and future research directions related to osteoporosis secondary to SARS‐CoV‐2 infection. Key mechanisms include an imbalance between osteoclast and osteoblast activity driven by direct viral effects on bone, inflammation, hypoxia, dysregulation of noncoding RNAs, and metabolic
Jinlong Wang, Yibai Xiong, Zhiqi Song, Yanhong Li, Ling Zhang, Chuan Qin   +5 more
wiley   +1 more source