Results 61 to 70 of about 106,405 (314)
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SAGIC Investigators +15 more
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The 9th International RASopathies Symposium
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
Introduction: Sleep-disordered breathing comprises of obstructive sleep apnea, central sleep apnea, and periodic breathing. There is a link between obesity diabetes and sleep apnea with its association with retinopathy.
Milesh Jung Sijapati +3 more
doaj +1 more source
Testosteron deficiency in men with obstructive sleep apnea syndrome: is hepcidin a player in the game? [PDF]
Barbara Bromińska +5 more
openalex +1 more source
Recognizable clinical subtypes of obstructive sleep apnea across international sleep centers: a cluster analysis [PDF]
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked FilesSTUDY OBJECTIVES: A recent study of patients with moderate-severe obstructive ...
Kim, Jinyoung +49 more
core +1 more source
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
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
Right ventricular echocardiographic parameters predict severe sleep apnea syndrome in patients with heart failure [PDF]
Aim: The study aimed to determine which right ventricle echocardiography parameters were associated with severe sleep apnea syndrome in heart failure patients with sleep apnea syndrome.
Saoussen Antit +6 more
doaj +1 more source
Objectives: (i) To expose 'normal sleepers' to a thirty two hour sleep deprivation protocol and evaluate the impact of this deprivation on a complex performance task i.e.
Bruck, Dorothy, Hood, Bernadette
core +1 more source
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
BACKGROUND: OSA is associated with an increased risk of cardiovascular morbidity. A driver of this is metabolic dysfunction and in particular type 2 diabetes mellitus (T2DM).
Saaresranta, T +11 more
core +1 more source

