Results 91 to 100 of about 266,113 (309)

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

Blood Pressure Non-Dipping and Obstructive Sleep Apnea Syndrome: A Meta-Analysis [PDF]

open access: yes, 2019
AIM: We examined the reduced blood pressure (BP) nocturnal fall in patients with obstructive sleep apnea (OSA) by a meta-analysis including studies that provided data on prevalence rates of non-dipping (ND) pattern during 24-h ambulatory blood ...
Cuspidi, Cesare   +5 more
core   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat   +4 more
wiley   +1 more source

Is surgery effective for reducing symptoms in adults with obstructive sleep apnea? [PDF]

open access: yes, 2001
Current evidence is insufficient to recommend surgery for symptom relief for patients with obstructive sleep apnea. More convincing evidence exists supporting the use of Continuous Positive Airway Pressure (CPAP) or dental appliances for reducing ...
Smith, Peter C.
core  

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline   +3 more
wiley   +1 more source

Healthcare Resource Utilization and Cost After Temperature‐Controlled Radiofrequency Treatment of Nasal Airway Obstruction: A Real‐World Longitudinal Claims Analysis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Nasal airway obstruction (NAO) is prevalent with substantial health and quality of life burdens. Nasal valve collapse (NVC) is one structural cause of NAO. Temperature‐controlled radiofrequency (TCRF) nasal valve remodeling offers an alternative to invasive surgery.
David W. Kennedy   +7 more
wiley   +1 more source

Cerebral vasoreactivity in response to a headof-bed position change is altered in patients with moderate and severe obstructive sleep apnea [PDF]

open access: yes, 2018
Obstructive sleep apnea (OSA) can impair cerebral vasoreactivity and is associated with an increased risk of cerebrovascular disease. Unfortunately, an easy-to-use, non-invasive, portable monitor of cerebral vasoreactivity does not exist. Therefore, we
Blanco, Igor   +9 more
core   +4 more sources

Disruption of the Blood–Brain Barrier Predicts Progression of Cerebral Small Vessel Disease White Matter Hyperintensities

open access: yesAnnals of Neurology, EarlyView.
Objective The objective of this study was to test if blood–brain barrier (BBB) disruption, detected using dynamic susceptibility contrast (DSC) imaging, would predict progression of white matter hyperintensities (WMHs) over the subsequent year in patients with chronic cerebrovascular disease. Methods The study included patients with a history of stroke
Richard Leigh   +4 more
wiley   +1 more source

Severe, Non‐apneic Respiratory Dysfunction and Hypoxia following Generalized Convulsive Seizures

open access: yesAnnals of Neurology, EarlyView.
Objective Sudden unexpected death in epilepsy (SUDEP) is a devastating consequence of some generalized convulsive seizures (GCS). Recent work has focused on seizure related apnea as a biomarker of SUDEP risk, frequently without characterizing the adequacy of non‐apneic ventilation or identifying other dysfunctional breathing patterns.
Haley E. Pysick   +9 more
wiley   +1 more source

SLEEP APNEA IN ENDOCRINE DISORDERS

open access: yesAlʹmanah Kliničeskoj Mediciny, 2016
In the recent years, an association between sleep apnea and a  number of endocrine diseases has been established. The secretion of many hormones after falling asleep is considerably changed, compared to the period of wakefulness.
I. V. Misnikova
doaj   +1 more source

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