Results 91 to 100 of about 1,044,100 (299)

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner   +7 more
wiley   +1 more source

Mitochondria-targeted protection against cardiac dysfunction in an embryonic model of obstructive sleep apnoea during development

open access: yes, 2023
reservedObstructive sleep apnoea (OSA) is a chronic disorder caused by the dynamic collapse of the upper airway during sleep. Around 20% of pregnant women with obesity have obstructive sleep apnoea (OSA).
ESHAGH NIMVARI, MARZIEH
core  

A survey of nurses' knowledge of sleep and its role in patient recovery in a hospital context [PDF]

open access: yes, 2011
The aim of this study was to determine professional nurses’ knowledge of sleep and the role of sleep in patient recovery, among 83 professional nurses in a private hospital in Cape Town, South Africa.
Pinna, Marisa Paola Maria
core   +1 more source

Adipose tissue as a key player in obstructive sleep apnoea

open access: yesEuropean Respiratory Review, 2019
Obstructive sleep apnoea (OSA) is a major health concern worldwide and adversely affects multiple organs and systems. OSA is associated with obesity in >60% of cases and is independently linked with the development of numerous comorbidities including ...
S. Ryan   +5 more
semanticscholar   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno   +8 more
wiley   +1 more source

Letter Re: Butyrylcholinesterase is a potential biomarker for sudden infant death syndrome

open access: yesEBioMedicine, 2022
Carmel Therese Harrington   +2 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

Prevalence of sleep apnoea in patients undergoing operation [PDF]

open access: yes, 2006
Obstructive sleep apnoea (OSA) is defined as episodes of obstructive apnoeas and hypopnoeas during sleep with daytime somnolence. The gold standard in diagnostic tool patients with these symptoms is polisomnography.
Unlu, Mehmet   +5 more
core   +1 more source

Assessment of obstructive sleep apnoea (OSA) in children: an update

open access: yesActa otorhinolaryngologica italica, 2019
SUMMARY OSA is a condition characterised by episodes of complete or partial obstruction of the upper airway, associated with blood-gas changes and atypical sleep patterns.
S. Savini   +6 more
semanticscholar   +1 more source

An Investigation of Sleep Macro‐ and Microarchitecture by APOE Genotype

open access: yesAnnals of Neurology, EarlyView.
Objectives Apolipoprotein E ε4 (APOE ε4), a robust genetic risk factor for Alzheimer's disease (AD) is associated with functional connectivity deficits and amyloid pathology in brain regions involved in sleep regulation. Thus, alterations in sleep architecture may be one pathway through which ε4 contributes to Alzheimer's disease vulnerability. However,
Gawon Cho   +6 more
wiley   +1 more source

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