Results 41 to 50 of about 131,972 (267)

Obstructive Sleep Apnea

Journal of Pharmacy and Bioallied Sciences, 2017
Obstructive sleep apnea syndrome (OSAS) is a potentially serious disorder attacking millions of people around the world. Many of these individuals are undiagnosed, and even though diagnosed often exhibit a poor compliance with the use of continuous positive airway pressure at nights, a very effective ...
Joseph Arnold, M Sunilkumar, V Krishna, S P Yoganand, M Sathish Kumar, D Shanmugapriyan   +5 more
openaire   +3 more sources

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Toward a hyperventilation detection system in freediving: a proof of concept using force sensor technology

Frontiers in Physiology
Background and aimHyperventilation before breath-hold diving (freediving) is widely accepted as a risk factor for hypoxic syncope or blackout (BO), but there is no practical way to address it before dives.
Frank Pernett, Frank Pernett, Eric Mulder, Filip Johansson, Arne Sieber, Arne Sieber, Ricardo Bermudez, Marcus Lossner, Erika Schagatay, Erika Schagatay   +9 more
doaj   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Relationship Between Physiological Factors, Emotional Status and Daily Activities With Sleep Quality in Spinal Cord Injury

Function and Disability Journal, 2021
Background and Objectives: Generally, spinal cord injuries can lead to functional limitations and restrict participation in different areas of occupations. One of the areas of occupations that are less considered is rest and sleep.
Nasim Joudi, Mehdi Alizadeh Zarei, Malahat Akbarfhimi   +2 more
doaj  

Apnea del recién nacido pretérmino

Repertorio de Medicina y Cirugía, 2014
La apnea del recién nacido pretérmino es una condición con alto riesgo de morbimortalidad es este grupo etario, es por ello que pediatras, neonatólogos, enfermeras, terapeutas y personal en general quienes identifican y de una u otra manera intervienen ...
Héctor Romero, Sabrina López
doaj   +1 more source

CENTRAL SLEEP APNEA

Otolaryngologic Clinics of North America, 1996
A central sleep apnea is the absence of respiratory effect, and, thus, the absence of airflow during sleep. Central hypopnea, a related disorder, is also discussed. The sensory component of central sleep apnea; defects involving the integrative and executive neurons; non-neurologic causes of central sleep apneas, including chronic obstructive pulmonary
, Guilleminault, , Robinson
openaire   +3 more sources

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

Lightweight and Low-Parametric Network for Hardware Inference of Obstructive Sleep Apnea

Diagnostics
Background: Obstructive sleep apnea is a sleep disorder that is linked to many health complications and can even be lethal in its severe form. Overnight polysomnography is the gold standard for diagnosing apnea, which is expensive, time-consuming, and ...
Tanmoy Paul, Omiya Hassan, Christina S. McCrae, Syed Kamrul Islam, Abu Saleh Mohammad Mosa   +4 more
doaj   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source