Results 61 to 70 of about 181,462 (268)

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

American 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, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

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

American 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, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Healthcare Resource Utilization and Cost After Temperature‐Controlled Radiofrequency Treatment of Nasal Airway Obstruction: A Real‐World Longitudinal Claims Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Nasal airway obstruction (NAO) is prevalent with substantial health and quality of life burdens. Nasal valve collapse (NVC) is one structural cause of NAO. Temperature‐controlled radiofrequency (TCRF) nasal valve remodeling offers an alternative to invasive surgery.
David W. Kennedy, Gavin Setzen, Ashleigh A. Halderman, Kevin C. Welch, Bobby Tajudeen, Gary M. Owens, Paul J. Niklewski, Masayoshi Takashima   +7 more
wiley   +1 more source

Disruption of the Blood–Brain Barrier Predicts Progression of Cerebral Small Vessel Disease White Matter Hyperintensities

Annals of Neurology, EarlyView.
Objective The objective of this study was to test if blood–brain barrier (BBB) disruption, detected using dynamic susceptibility contrast (DSC) imaging, would predict progression of white matter hyperintensities (WMHs) over the subsequent year in patients with chronic cerebrovascular disease. Methods The study included patients with a history of stroke
Richard Leigh, Kyle C. Kern, Nae‐Yuh Wang, Rebecca F. Gottesman, Clinton B. Wright   +4 more
wiley   +1 more source

Severe, Non‐apneic Respiratory Dysfunction and Hypoxia following Generalized Convulsive Seizures

Annals of Neurology, EarlyView.
Objective Sudden unexpected death in epilepsy (SUDEP) is a devastating consequence of some generalized convulsive seizures (GCS). Recent work has focused on seizure related apnea as a biomarker of SUDEP risk, frequently without characterizing the adequacy of non‐apneic ventilation or identifying other dysfunctional breathing patterns.
Haley E. Pysick, Rup K. Sainju, Roshni Nair, Deidre N. Dragon, Eduardo Bravo, Laura Vilella, Xiaojin Li, Samden D. Lhatoo, George B. Richerson, Brian K. Gehlbach   +9 more
wiley   +1 more source

A Lightweight Skin‐Adhesive Fiber Bragg Grating Sensor to Advance Minimally Invasive Healthcare Monitoring

Advanced NanoBiomed Research, EarlyView.
A novel self‐adhesive hydrogel matrix is engineered to embed a fiber Bragg grating sensor for real‐time monitoring of physiological strain signals. The developed system conforms to the skin without external supports and, thanks to the fiber–matrix mechanical coupling, captures both subtle and large‐scale deformations.
Ilaria Condò, Marcella Trombetta, Emiliano Schena, Daniela Lo Presti, Sara Maria Giannitelli   +4 more
wiley   +1 more source

Rethinking brachycephaly: Anatomical implications and health considerations in lagomorphs

The Anatomical Record, EarlyView.
Abstract Brachycephaly in domestic rabbits is increasingly perceived by welfare organizations as associated with significant health complications, particularly oral pathologies. Despite this perception, comparative anatomical research into rabbit brachycephaly is limited compared to that of dogs and cats, compelling an in‐depth examination of its ...
Helaina Cressy, Alice Nishigaki, Matthew C. Gage, Renato L. Previdelli   +3 more
wiley   +1 more source

Establishment and validation of a prediction model for apnea on bronchiolitis

Frontiers in Pediatrics
ObjectiveThe objective of this study is to examine the risk factors associated with apnea in hospitalized patients diagnosed with bronchiolitis and to develop a nomogram prediction model for the early identification of patients who are at risk of ...
Qiuyan Xu, Li Shen, Min Lu, Shuangqin Ran, Wujun Jiang, Jun Hua, Linlin Li   +6 more
doaj   +1 more source

0614 Diurnal Patterning of Autonomic Measures in Sleep Apnea and Paroxysmal Atrial Fibrillation and Response to Continuous Positive Airway Pressure Therapy [PDF]

, 2020
Aqeel A. Sandhu, L Wang, James Bena, Farhad Kaffashi, Kenneth A. Loparo, Joan Aylor, R Nawabit, Mina K. Chung, David R. Van Wagoner, Harneet K. Walia, Reena Mehra   +10 more
openalex   +1 more source