Results 61 to 70 of about 198,136 (341)

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking, Yu An, Weimin Bi, Katrin Hinderhofer, Susanne Theiß, Anne Slavotinek, Christian P. Schaaf   +6 more
wiley   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

The Influence of a Mandibular Advancement Plate on Polysomnography in Different Grades of Obstructive Sleep Apnea

eJournal of Oral Maxillofacial Research, 2015
Objectives: The purpose of this study was to investigate the effect of a mandibular advancement device on different grades of obstructive sleep apnea using a relatively simple test for the apnea-hypopnea index to determine if a mandibular device will be ...
Antti Raunio, Pauli Mattila, Usko Huuskonen, Kyösti Oikarinen, George K. Sándor   +4 more
doaj   +1 more source

Obstructive sleep apnea: current perspectives

Nature and Science of Sleep, 2018
The prevalence of obstructive sleep apnea (OSA) continues to rise. So too do the health, safety, and economic consequences. On an individual level, the causes and consequences of OSA can vary substantially between patients.
A. Osman, S. Carter, J. Carberry, D. Eckert   +3 more
semanticscholar   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Cardiovascular Outcomes in Sleep-Disordered Breathing: Are We Under-estimating?

Frontiers in Neurology, 2022
Obstructive sleep apnea is a growing health concern, affecting nearly one billion people worldwide; increasingly recognized as an independent cardiovascular risk factor associated with incident obesity, insulin resistance, hypertension, arrhythmias ...
Muhammad Yasir, Muhammad Yasir, Amina Pervaiz, Abdulghani Sankari, Abdulghani Sankari, Abdulghani Sankari   +5 more
doaj   +1 more source

Obstructive sleep apnea and comorbidities: a dangerous liaison

Multidisciplinary Respiratory Medicine, 2019
Obstructive sleep apnea (OSA) is a highly prevalent disease, and is traditionally associated with increased cardiovascular risk. The role of comorbidities in OSA patients has emerged recently, and new conditions significantly associated with OSA are ...
M. Bonsignore, P. Baiamonte, E. Mazzuca, Alessandra Castrogiovanni, O. Marrone   +4 more
semanticscholar   +1 more source

Expert Strategies: Skull Base Reconstruction—Global Perspectives, Insights, and Algorithms through a Mixed Methods Approach

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective There is limited consensus on endoscopic skull base surgery (ESBS) reconstruction principles. This study aims to generate comprehensive themes regarding ESBS reconstruction by pooling the experiences of ESBS experts, with comparison to a literature review of current published evidence.
Edward C. Kuan, Vidit Talati, Jagatkumar A. Patel, Theodore V. Nguyen, Arash Abiri, Jonathan C. Pang, Khodayar Goshtasbi, Lauren Liu, John R. Craig, Peter Papagiannopoulos, Katie M. Phillips, Bobby A. Tajudeen, Nithin D. Adappa, James N. Palmer, Ahmad R. Sedaghat, Eric W. Wang, Vijay Anand, Pete S. Batra, Marvin Bergsneider, Manuel Bernal‐Sprekelsen, Benjamin S. Bleier, Paolo Cappabianca, Ricardo L. Carrau, Roy R. Casiano, Paolo Castelnuovo, Luigi M. Cavallo, Marc A. Cohen, Iacopo Dallan, Jean Anderson Eloy, Ivan H. El‐Sayed, James J. Evans, Juan C. Fernandez‐Miranda, Marco Ferrari, Sebastien Froelich, Paul A. Gardner, Christos Georgalas, Stacey T. Gray, Ehab Y. Hanna, Richard J. Harvey, Sang Duk Hong, Peter H. Hwang, Daniel F. Kelly, Doo‐Sik Kong, Ming‐Ying Lan, John Y. K. Lee, Corinna G. Levine, James K. Liu, Davide Locatelli, Cem Meço, Erin L. McKean, Piero Nicolai, Gurston G. Nyquist, Kazuhiro Omura, Thibault Passeri, Zara M. Patel, Maria Peris Celda, Carlos Pinheiro Neto, Danny M. Prevedello, Mindy R. Rabinowitz, Shaan M. Raza, Pablo F. Recinos, Marc R. Rosen, Zoukaa B. Sargi, Rodney J. Schlosser, Theodore H. Schwartz, Raj Sindwani, Carl H. Snyderman, Aldo C. Stamm, Brian D. Thorp, Mario Turri‐Zanoni, Marilene B. Wang, Wei‐Hsin Wang, Ian J. Witterick, Tae‐Bin Won, Bradford A. Woodworth, Peter‐John Wormald, Gabriel Zada, Shirley Y. Su   +77 more
wiley   +1 more source

Cardioversion of atrial fibrillation does not affect obstructive sleep apnea

Upsala Journal of Medical Sciences, 2017
Background: Sleep apnea is common in patients with atrial fibrillation, but the effect of the cardioversion of atrial fibrillation to sinus rhythm on central and obstructive apneas is mainly unknown.
Niklas Höglund, Carin Sahlin, Milos Kesek, Steen M. Jensen, Karl A. Franklin   +4 more
doaj   +1 more source

Solriamfetol for Excessive Sleepiness in Obstructive Sleep Apnea (TONES 3). A Randomized Controlled Trial.

American Journal of Respiratory and Critical Care Medicine, 2019
Rationale: Primary treatment of obstructive sleep apnea can be accompanied by a persistence of excessive sleepiness despite adherence. Furthermore, effectiveness of sleep apnea treatment is limited by poor adherence.
P. Schweitzer, R. Rosenberg, G. Zammit, M. Gotfried, Dan Chen, L. Carter, Hao Wang, Yuan Lu, J. Black, A. Malhotra, K. Strohl   +10 more
semanticscholar   +1 more source