Results 11 to 20 of about 138,049 (316)

Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 29-36, January 2023., 2023
Abstract De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features.
Schaida Schirwani, Emily Woods, David A. Koolen, Charlotte W. Ockeloen, Sally Ann Lynch, Karl Kavanagh, John M. Graham Jr, Katheryn Grand, Tyler Mark Pierson, Jeffrey M. Chung, Meena Balasubramanian   +10 more
wiley   +1 more source

Development of an IoT-Based Sleep Apnea Monitoring System for Healthcare Applications [PDF]

, 2022
Sleep is an essential and vital element of a person life and health that helps to refresh and recharge the mind and body of a person. The quality of sleep is very important in every person lifestyle, removing various diseases. Bad sleep is a big problem for a lot of people for a very long time.
arxiv   +1 more source

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy   +47 more
wiley   +1 more source

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin   +9 more
wiley   +1 more source

Obstructive sleep apnea [PDF]

Neurology International, 2011
Obstructive sleep apnea (OSA) affects millions of Americans and is estimated to be as prevalent as asthma and diabetes. Given the fact that obesity is a major risk factor for OSA, and given the current global rise in obesity, the prevalence of OSA will increase in the future. Individuals with sleep apnea are often unaware of their sleep disorder. It is
Ho, Matthew L., Brass, Steven D.
openaire   +4 more sources

CENTRAL SLEEP APNEA [PDF]

Otolaryngologic Clinics of North America, 1996
A central sleep apnea is the absence of respiratory effect, and, thus, the absence of airflow during sleep. Central hypopnea, a related disorder, is also discussed. The sensory component of central sleep apnea; defects involving the integrative and executive neurons; non-neurologic causes of central sleep apneas, including chronic obstructive pulmonary
Anstella Robinson, Christian Guilleminault   +1 more
openaire   +3 more sources

Serum bilirubin and the risk of chronic obstructive pulmonary disease exacerbations

Respiratory Research, 2017
Background Bilirubin is a potent anti-oxidant and higher serum concentrations of bilirubin have been associated with better lung function, slower lung function decline, and lower incidence of chronic obstructive pulmonary disease (COPD).
Kirstin E. Brown, Don D. Sin, Helen Voelker, John E. Connett, Dennis E. Niewoehner, Ken M. Kunisaki, for the COPD Clinical Research Network   +6 more
doaj   +1 more source

Pediatric sleep apnea and depressive disorders risk: A population-based 15-year retrospective cohort study. [PDF]

PLoS ONE, 2017
Studies have shown a higher risk of depressive disorders in children with sleep apnea than in those without sleep apnea. However, the association between sleep apnea and subsequent depressive disorders in the pediatric population remains undetermined ...
Chun-Hung Chang, Shaw-Ji Chen, Chieh-Yu Liu   +2 more
doaj   +1 more source

Practical considerations for effective oral appliance use in the treatment of obstructive sleep apnea: a clinical review

Sleep Science and Practice, 2017
Oral appliance (OA) therapy is a promising alternative to continuous positive airway pressure (CPAP) for patients with obstructive sleep apnea (OSA). By holding the mandible in a forward position, an OA keeps the airway open and prevents collapse.
Hiroko Tsuda, Naohisa Wada, Shin-ichi Ando   +2 more
doaj   +1 more source

High-Resolution Pulse Oximetry and Titration of a Mandibular Advancement Device for Obstructive Sleep Apnea

Frontiers in Neurology, 2019
Background: To determine whether utilizing high-resolution pulse oximetry is a viable method for evaluating the successful titration of oral appliances for the treatment of obstructive sleep apnea (OSA) patients.Methods: Of 136 consecutive potentially ...
James E. Metz, Hrayr P. Attarian, Mickey C. Harrison, James E. Blank, Christopher M. Takacs, Dale L. Smith, David Gozal   +6 more
doaj   +1 more source