Results 71 to 80 of about 40,179 (284)
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
THE SUFFERING OF PATIENTS WITH RESPIRATORY DISORDERS DURING SLEEP
Studia Medyczne, 2013 Assumption : Respiratory disorders during sleep involving the occurrence of sleep apnoea leading to a reduction in arterial oxygen saturation are classified as: obstructive sleep apnoea, central sleep apnoea and sleep-related hypoventilation with ...
Jacek Lech
doaj +1 more source
Obstructive sleep apnea severity affects amyloid burden in cognitively normal elderly a longitudinal study [PDF]
, 2018 Recent evidence suggests that Obstructive Sleep Apnea (OSA) may be a risk factor for developing Mild Cognitive Impairment and Alzheimer’s disease.
Bubu, Omonigho M. +3 more
core +2 more sources
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet +10 more
wiley +1 more source
Diagnostic algorithm of snore and sleep apnea in pations with nasal and pharyngeal obstruction
RUDN Journal of Medicine, 2016 The article presents diagnostic algorithm of snore and sleep apnea in ENT practice. Investigation of 81 patients with signs of nasal and pharyngeal obstruction revealed that 29 of them had obstructive sleep apnoea, 52 - primary snore without apnoea.
V I Panin, N A Pikhtileva
doaj
African Journal of Emergency Medicine, 2013 Obstructive sleep apnoea syndrome (OSAS), recurrent upper airway obstruction during sleep, increased respiratory effort against the obstructed airway, and is characterized by frequent sleep fragmentation.
A.O. Yildirim*, Y.E. Eyi
doaj +1 more source
Physiological monitoring in the complex multi-morbid heart failure patient - Introduction. [PDF]
, 2019 Repeated physiological monitoring of comorbidities in heart failure (HF) is pivotal. This document introduces the main challenges related to physiological monitoring in the complex multimorbid HF patient, arising during an ESC consensus meeting on this ...
Rosano, GMC, Seferović, PM
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen +5 more
wiley +1 more source
Treatment of obstructive and central sleep apnoea in heart failure: practical options
European Respiratory Review, 2007 Sleep apnoea, both central and obstructive disordered breathing, commonly occurs in patients with heart failure. Obstructive sleep apnoea occurs both in systolic and diastolic heart failure and is best treated with nasal positive airway pressure devices.
S. Javaheri
doaj
Медицинский совет, 2016 This article covers the issue of diagnostics and method of surgical therapy of such reason of the middle exudative otitis and syndrome of the obstructive sleep apnoea as hypertrophy of the tubal rollers and hyperplasia of tubal tonsils.
Y. Y. Rusetsky +4 more
doaj +1 more source