Results 111 to 120 of about 800,724 (403)
Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim +2 more
wiley +1 more source
Is surgery effective for reducing symptoms in adults with obstructive sleep apnea? [PDF]
, 2001 Current evidence is insufficient to recommend surgery for symptom relief for patients with obstructive sleep apnea. More convincing evidence exists supporting the use of Continuous Positive Airway Pressure (CPAP) or dental appliances for reducing ...
Smith, Peter C.
core
Obstructive Sleep Apnea and the Risk of Cognitive Decline in Older Adults.
American Journal of Respiratory and Critical Care Medicine, 2019 Obstructive sleep apnea causes intermittent hypoxia and sleep fragmentation and affects at least 20% of individuals after the age of 65. There is accumulating evidence that obstructive sleep apnea may impact brain structure and function.
N. Gosselin +4 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...
Russell Stewart +336 more
wiley +1 more source
Non-linear HRV analysis to quantify the effects of intermittent hypoxia using an OSA rat model [PDF]
, 2019 © 2019 IEEE. Personal use of this material is permitted. Permission from IEEE must be obtained for all other uses, in any current or future media, including reprinting /republishing this material for advertising or promotional purposes, creating new ...
Jané Campos, Raimon, Romero, Daniel
core +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
Clinics, 2011 OBJECTIVE: Obstructive sleep apnea is characterized by increased upper airway collapsibility during sleep. The present study investigated the use of the negative expiratory pressure test as a method to rule out obstructive sleep apnea.
Salvatore Romano +4 more
doaj +1 more source
Cerebral vasoreactivity in response to a headof-bed position change is altered in patients with moderate and severe obstructive sleep apnea [PDF]
, 2018 Obstructive sleep apnea (OSA) can impair cerebral vasoreactivity and is associated with an increased risk of cerebrovascular disease. Unfortunately, an easy-to-use, non-invasive, portable monitor of cerebral vasoreactivity does not exist. Therefore, we
Blanco, Igor +9 more
core +4 more sources
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote +9 more
wiley +1 more source
Heart rate variability in adults with obstructive sleep apnea: a systematic review
Sleep Science, 2019 Obstructive Sleep Apnea is a common respiratory disorder characterized by recurrent nocturnal episodes of normal breathing interruption due to upper airway total or partial collapse.
Vanessa Cristina Cunha Sequeira +2 more
semanticscholar +1 more source