Results 51 to 60 of about 18,483 (261)
An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula +8 more
wiley +1 more source
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
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source
Health consequences of Obstructive Sleep Apnoea Syndrome
Journal of Education, Health and SportIntroduction: Obstructive Sleep Apnoea Syndrome (OSAS) is a common sleep disorder characterized by recurrent episodes of partial or complete upper airway obstruction during sleep.
Kamila Szewczyk +5 more
doaj +1 more source
American 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
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
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An Investigation of Sleep Macro‐ and Microarchitecture by APOE Genotype
Annals 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
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
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The Anatomical Record, EarlyView.Abstract Hypoglossal nerve or tongue protruding muscle stimulation is a current treatment option for obstructive sleep apnea. Thus, the present study analyzed 3D deformations of the volumetric enlarged and reduced tongue base upon oropharyngeal neuromuscular stimulation.
Sydney Chen +2 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