Results 81 to 90 of about 138,049 (316)
Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina +6 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
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 +6 more
wiley +1 more source
Epilepsia 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
Sleep Apnea Detection Based on Thoracic and Abdominal Movement Signals of Wearable Piezo-Electric Bands [PDF]
arXiv, 2016 Physiologically, the thoracic (THO) and abdominal (ABD) movement signals, captured using wearable piezo-electric bands, provide information about various types of apnea, including central sleep apnea (CSA) and obstructive sleep apnea (OSA). However, the use of piezo-electric wearables in detecting sleep apnea events has been seldom explored in the ...
arxiv
Internalizing Psychiatric Symptoms in People With Mosaicism for Trisomy 21
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT People with mosaicism for trisomy 21 have been shown to exhibit many of the same phenotypic traits present in people with non‐mosaic Down syndrome, but with varying symptom severity. However, the behavioral phenotype of people with mosaic Down syndrome (mDS) has not been well characterized.
Ruth C. Brown +7 more
wiley +1 more source
Screening of Obstructive Sleep Apnea with Empirical Mode Decomposition of Pulse Oximetry [PDF]
, 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 syndrome.
arxiv +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp +7 more
wiley +1 more source
A Structured Learning Approach with Neural Conditional Random Fields for Sleep Staging [PDF]
arXiv, 2018 Sleep plays a vital role in human health, both mental and physical. Sleep disorders like sleep apnea are increasing in prevalence, with the rapid increase in factors like obesity. Sleep apnea is most commonly treated with Continuous Positive Air Pressure (CPAP) therapy. Presently, however, there is no mechanism to monitor a patient's progress with CPAP.
arxiv
SLEEP APNEA IN ENDOCRINE DISORDERS
Alʹmanah Kliničeskoj Mediciny, 2016 In the recent years, an association between sleep apnea and a number of endocrine diseases has been established. The secretion of many hormones after falling asleep is considerably changed, compared to the period of wakefulness.
I. V. Misnikova
doaj +1 more source