Results 81 to 90 of about 305,278 (338)

A companion to the preclinical common data elements for rodent models of pediatric acquired epilepsy: A report of the TASK3‐WG1B, Pediatric and Genetic Models Working Group of the ILAE/AES Joint Translational Task Force

open access: yesEpilepsia Open, EarlyView., 2022
Abstract Epilepsy syndromes during the early years of life may be attributed to an acquired insult, such as hypoxic–ischemic injury, infection, status epilepticus, or brain trauma. These conditions are frequently modeled in experimental rodents to delineate mechanisms of epileptogenesis and investigate novel therapeutic strategies.
Anna‐Maria Katsarou   +7 more
wiley   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah   +6 more
wiley   +1 more source

The Consequences of Preterm Birth and Chorioamnionitis on Brainstem Respiratory Centers: Implications for Neurochemical Development and Altered Functions by Inflammation and Prostaglandins

open access: yesFrontiers in Cellular Neuroscience, 2018
Preterm birth is a major cause for neonatal morbidity and mortality, and is frequently associated with adverse neurological outcomes. The transition from intrauterine to extrauterine life at birth is particularly challenging for preterm infants. The main
Vanesa Stojanovska   +6 more
doaj   +1 more source

Risk factors for obstructive sleep apnea syndrome in children: state of the art [PDF]

open access: yes, 2019
The obstructive sleep apnea syndrome (OSAS) represents only part of a large group of pathologies of variable entity called respiratory sleep disorders (RSD) which include simple snoring and increased upper airway resistance syndrome (UARS).
Bellini, Chiara   +16 more
core   +2 more sources

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

open access: yesAmerican 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   +3 more
wiley   +1 more source

Characteristics of Obstructive Sleep Apnea Across the Spectrum of Glucose Tolerance in Obese Adolescents

open access: yesFrontiers in Endocrinology, 2018
BackgroundIt is not known if dysglycemia and sleep-disordered breathing are linked in adolescents, as in adults.ObjectiveTo perform a pilot study evaluating measures of sleep-disordered breathing across the spectrum of glucose tolerance in obese ...
Tamara S. Hannon   +5 more
doaj   +1 more source

Sleep Apnea and Heart [PDF]

open access: yesSleep Medicine Research, 2019
Scientific investigations in the past few decades have supported the important role of sleep in various domains of health. Sleep apnea is a highly prevalent yet underdiagnosed sleep disorder representing a valid cardiovascular risk factor, particularly for hypertension.
Snigdha Pusalavidyasagar   +5 more
openaire   +4 more sources

Stroke volume estimation by thoracocardiography is better when glottis is closed

open access: yes, 2007
Thoracocardiography approach pretends to non-invasively monitor stroke volume by inductive plethysmographic recording of ventricular volume curves by a transducer placed on the chest.
Abdulhay, Enas, Baconnier, Pierre
core   +3 more sources

Blood Pressure Non-Dipping and Obstructive Sleep Apnea Syndrome: A Meta-Analysis [PDF]

open access: yes, 2019
AIM: We examined the reduced blood pressure (BP) nocturnal fall in patients with obstructive sleep apnea (OSA) by a meta-analysis including studies that provided data on prevalence rates of non-dipping (ND) pattern during 24-h ambulatory blood ...
Cuspidi, Cesare   +5 more
core   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

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