Results 41 to 50 of about 70,561 (223)

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

Classifying sleep states using persistent homology and Markov chain: a Pilot Study [PDF]

arXiv, 2020
Obstructive sleep Apnea (OSA) is a form of sleep disordered breathing characterized by frequent episodes of upper airway collapse during sleep. Pediatric OSA occurs in 1-5% of children and can related to other serious health conditions such as high blood pressure, behavioral issues, or altered growth.
arxiv  

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

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

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

SlAction: Non-intrusive, Lightweight Obstructive Sleep Apnea Detection using Infrared Video [PDF]

arXiv, 2023
Obstructive sleep apnea (OSA) is a prevalent sleep disorder affecting approximately one billion people world-wide. The current gold standard for diagnosing OSA, Polysomnography (PSG), involves an overnight hospital stay with multiple attached sensors, leading to potential inaccuracies due to the first-night effect. To address this, we present SlAction,
arxiv  

Alzheimer's Association clinical practice guideline for the Diagnostic Evaluation, Testing, Counseling, and Disclosure of Suspected Alzheimer's Disease and Related Disorders (DETeCD‐ADRD): Executive summary of recommendations for primary care

Alzheimer's &Dementia, Volume 21, Issue 6, June 2025.
Abstract US clinical practice guidelines for the diagnostic evaluation of cognitive impairment due to Alzheimer's disease (AD) or AD and related dementias (ADRD) are decades old and aimed at specialists. This evidence‐based guideline was developed to empower all—including primary care—clinicians to implement a structured approach for evaluating a ...
Alireza Atri, Bradford C. Dickerson, Carolyn Clevenger, Jason Karlawish, David Knopman, Pei‐Jung Lin, Mary Norman, Chiadi Onyike, Mary Sano, Susan Scanland, Maria Carrillo   +10 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

Automated Respiratory Event Detection Using Deep Neural Networks [PDF]

arXiv, 2021
The gold standard to assess respiration during sleep is polysomnography; a technique that is burdensome, expensive (both in analysis time and measurement costs), and difficult to repeat. Automation of respiratory analysis can improve test efficiency and enable accessible implementation opportunities worldwide.
arxiv  

Single Channel ECG for Obstructive Sleep Apnea Severity Detection using a Deep Learning Approach [PDF]

TENCON 2018 - 2018 IEEE Region 10 Conference, 2018
Obstructive sleep apnea (OSA) is a common sleep disorder caused by abnormal breathing. The severity of OSA can lead to many symptoms such as sudden cardiac death (SCD). Polysomnography (PSG) is a gold standard for OSA diagnosis. It records many signals from the patient's body for at least one whole night and calculates the Apnea-Hypopnea Index (AHI ...
arxiv   +1 more source