Results 81 to 90 of about 333,067 (352)

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

open access: yesAmerican 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   +10 more
wiley   +1 more source

Consumer personas for CPAP purchasing in older adults with obstructive sleep apnea: a hospital database study

open access: yesFuture Science OA
Introduction Even though a continuous positive airway pressure machine (CPAP) is effective in obstructive sleep apnea in older adults, there is limited data on predictors of CPAP purchasing in older adults with OSA.
Bundit Sawunyavisuth   +4 more
doaj   +1 more source

EIT based intrathoracic pulsatile impedance measurements during apnea: a case study

open access: yesCurrent Directions in Biomedical Engineering, 2020
Intrathoracic ventilation related and pulsatile (perfusion) impedance changes can be measured by the noninvasive and radiation-free imaging method Electrical Impedance Tomography (EIT).
Krueger-Ziolek Sabine   +4 more
doaj   +1 more source

Screening of Obstructive Sleep Apnea with Empirical Mode Decomposition of Pulse Oximetry

open access: yes, 2014
Detection of desaturations on the pulse oximetry signal is of great importance for the diagnosis of sleep apneas. Using the counting of desaturations, an index can be built to help in the diagnosis of severe cases of obstructive sleep apnea-hypopnea ...
Di Persia, Leandro E.   +3 more
core   +1 more source

Treatment of cardiomyopathy with PAP therapy in a patient with severe obstructive sleep apnea. [PDF]

open access: yes, 2012
Obstructive sleep apnea is common in patients with heart failure. This case illustrates that treatment with PAP therapy can improve cardiac function in patients with both conditions.
Grewal, MD, Ritu G.
core   +2 more sources

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

open access: yesAmerican 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   +6 more
wiley   +1 more source

Sleep Assessment in Patients with Inner Ear Functional Disorders: A Prospective Cohort Study Investigating Sleep Quality Through Polygraphy Recordings

open access: yesAudiology Research
Background/Objectives: The vestibulo-respiratory reflex regulates the tension of the respiratory muscles, which prevents apneas and awakenings during sleep. This study aimed to determine whether functional deficits in the inner ear disturb sleep quality.
Dorota Kuryga, Artur Niedzielski
doaj   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline   +3 more
wiley   +1 more source

Association of Obstructive Sleep Apnea With Cardiovascular Outcomes in Patients With Acute Coronary Syndrome. [PDF]

open access: yes, 2019
Background The prognostic significance of obstructive sleep apnea ( OSA ) in patients with acute coronary syndrome ( ACS ) in the contemporary era is unclear.
Fan, Jingyao   +5 more
core   +1 more source

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