Results 81 to 90 of about 40,179 (284)

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Identifying Excessive Daytime Sleepiness Using Epworth Sleepiness Scale in a Normal Healthy Population – A Pilot Study

Journal of Clinical and Biomedical Sciences, 2018
Introduction: Excessive daytime sleepiness (EDS) is a common sign in obstructive sleep apnoea syndrome which is often missed during routine screening. Epworth Sleepiness Scale (ESS) is simple, reliable tool to assess daytime sleepiness.
Sriram SP, Vinutha Shankar MS, Shobha MV   +2 more
doaj   +1 more source

Platypnoea–orthodeoxia syndrome affects nocturnal oxygen desaturation: A case report

Respirology Case Reports, 2023
A woman in her late 20s who had received an implantable cardioverter defibrillator in childhood for ventricular arrhythmia was diagnosed with severe obstructive sleep apnoea (apnoea–hypopnoea index, 77.1/h), and she began continuous positive airway ...
Mamiko Hoshi, Yutaka Kozu, Michio Kawamura, Naho Furusho, Ryosuke Ozoe, Yusuke Jinno, Kenichi Sugaya, Hisato Hiranuma, Kazuo Chin, Yasuhiro Gon   +9 more
doaj   +1 more source

Effects of glaucoma and snoring on cerebral oxygenation in the visual cortex: a study using functional Near Infrared Spectroscopy (fNIRS) [PDF]

, 2018
Purpose: The purpose of this study was to investigate the effects of snoring and glaucoma on the visual Haemodynamic Response (HDR) using functional Near Infrared Spectroscopy (fNIRS).
Aitchison, Ross T., Hill, Gemma, Imrie, Jayne, Kennedy, Graeme J., Mansfield, David, Morrison, Gordon, Shahani, Uma, Simmers, Anita J., Ward, Laura M.   +8 more
core   +1 more source

Protocol of the SOMNIA project : an observational study to create a neurophysiological database for advanced clinical sleep monitoring [PDF]

, 2019
Introduction Polysomnography (PSG) is the primary tool for sleep monitoring and the diagnosis of sleep disorders. Recent advances in signal analysis make it possible to reveal more information from this rich data source.
Arsenali, Bruno, Bergmans, Jan W. M., Fonseca, Pedro, Haakma, Reinder, Hoondert, Bertram, Krijn, Roy, Lauwerijssen, Coen, Leufkens, Tim R., Maass, Henning, Overeem, Sebastiaan, Pevernagie, Dirk, Pillen, Sigrid, van den Heuvel, Leonie, van Dijk, Johannes P., van Gilst, Merel M., van Sloun, Ruud J. G., Vandenbussche, Nele   +16 more
core   +2 more sources

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

American 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, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Treatment‐emergent central sleep apnoea managed by CPAP with adjunctive acetazolamide: A case report

Respirology Case Reports, 2022
Treatment‐emergent central sleep apnoea (TECSA) refers to the emergence of central apnoea during treatment for obstructive sleep apnoea (OSA), most commonly continuous positive airway pressure (CPAP).
Chin Tong Kwok, Kam Cheung Wong, Chun Lee Kwok, Sing Hang Lee, Kwok Sang Yee   +4 more
doaj   +1 more source

The importance of screening in children who snore [PDF]

, 2019
It is important to screen for OSAS in children who snore, as early treatment of OSAS can prevent neurocognitive, behavioural, cardiovascular and metabolic consequences.
Evangelisti, M., Villa, Mp
core   +1 more source

Obstructive sleep apnoea

Continuing Education in Anaesthesia Critical Care & Pain, 2011
Obstructive sleep apnoea (OSA) affects 5–10% of the adult population with estimates of twice that in patients scheduled for surgery. When accompanied by excessive day-time sleepiness, OSA is termed OSA syndrome (OSAS). The prevalence of OSA is highest in obese middle-aged people.
Guillermo Martinez, Peter Faber
openaire   +1 more source

Dupilumab Beyond the Airway: Decreased Morbidity in a Real‐World Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Post hoc analyses of clinical trials have characterized dupilumab's adverse effects, yet the real‐world impact in chronic rhinosinusitis with nasal polyps (CRSwNP) and asthma is not well described. This study aims to characterize the risks of lymphoma, cardiovascular events, eosinophilia, joint pain, inflammatory arthritis, and ...
Emma J. Anisman, Spencer Short, Emma Tam, Benjamin F. Bitner, Abdulghafoor Alani, Marc Rosen, Mindy Rabinowitz, Damaris Pena Evertz, Elina Toskala, Gurston G. Nyquist   +9 more
wiley   +1 more source