Results 21 to 30 of about 341 (132)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Switching disease‐modifying therapies in patients with spinal muscular atrophy: A systematic review on effectiveness outcomes

British Journal of Clinical Pharmacology, EarlyView.
With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić, Elvira Meni Maria Gkrinia, Patrick Eustaquio, Andrea Katrin Faour, Dinko Vitezić   +4 more
wiley   +1 more source

“Less usual ventilatory modes II: BIPAP and Automode” . Letter to the Editor – Author response

Journal of Mechanical Ventilation
Letter to the editor Author's response Response to author's response
Ariel J Garnero
doaj   +1 more source

“Thinking Out Loud” and “Pivoting on the Fly”—An Empirical Review and Critical Incident Study of How Physicians Engage in Incidental Learning Amidst Complexity

Human Resource Development Quarterly, EarlyView.
ABSTRACT This study explores incidental learning among physicians navigating uncertainty during the COVID‐19 pandemic. Using a constructivist research design, we conducted a literature review of 13 empirical studies on incidental learning in complexity and analyzed critical incident interviews with 12 emergency medicine and intensive care physicians ...
Henriette Lundgren, Karen E. Watkins, Victoria J. Marsick, Dimitrios Papanagnou, Urvashi Vaid   +4 more
wiley   +1 more source

Identifying High‐Risk Children Safe for Same‐Day Discharge After Tonsillectomy

The Laryngoscope, EarlyView.
ABSTRACT Objective Current guidelines recommend overnight admission for children with severe obstructive sleep apnea (OSA) and obesity undergoing tonsillectomy, although most have uneventful postoperative courses. We aimed to identify low‐risk subgroups within this high‐risk population who may be candidates for same‐day discharge. Methods Retrospective
Amy Ho, Yann‐Fuu Kou, Christopher Liu, Cynthia S. Wang, Felicity Lenes‐Voit, Stephen R. Chorney, Kenneth Lee, Seckin Ulualp, Ron B. Mitchell, Romaine F. Johnson   +9 more
wiley   +1 more source

CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder, Suzanna E. L. Temple, Niall Jefferson, David Brown, Kasee Stratton‐Gadke, Madelene Rich, Steve Rose, Kim Blake   +7 more
wiley   +1 more source

Paradoxical hypoxemia following positive pressure ventilation: exploring the pathophysiology

European Journal of Case Reports in Internal Medicine
Positive pressure ventilation (PPV), both non-invasive and invasive, enhances ventilation but can sometimes lead to unexpected hypoxemia. This case report describes an instance of paradoxical hypoxemia after initiating bilevel positive airway pressure ...
Xin Ya See, Zehra Naseem, Susan Synderburn, William Wallace, Neal Chaisson, Daniel Culver   +5 more
doaj   +1 more source

First Experience With Extravascular Implantable Cardioverter‐Defibrillator Under Deep Sedation

Pacing and Clinical Electrophysiology, EarlyView.
ABSTRACT Background The Extravascular Implantable Cardioverter‐Defibrillator (EV‐ICD) utilizes a substernal lead to provide defibrillation and anti‐tachycardia pacing (ATP) while avoiding transvenous complications. General anesthesia (GA) was applied for implantation procedures in the EV‐ICD pivotal trial and is currently recommended by the ...
Nibras Soubh, Bernhard C. Danner, Ulrich Krause, Matthias J. Müller, Markus Zabel, Gerd Hasenfuß, Constanze Schmidt, Helge Haarmann, Eva Rasenack, Leonard Bergau   +9 more
wiley   +1 more source

Automatic detection of CO2 rebreathing during BiPAP ventilation

Scientific Reports, 2023
Abstract CO2 rebreathing significantly influences respiratory drive and the work of breathing during BiPAP ventilation. We analyzed CO2 movement during BiPAP ventilation to find a method of real time detection of CO2 rebreathing without the need of CO2 concentration measurement sampled from the circuit (method expensive and not ...
Szkulmowski, Z., Robert, D., Karłowska-Pik, J., Argaud, L.   +3 more
openaire   +4 more sources

Less usual ventilatory modes II: BIPAP and Automode

Journal of Mechanical Ventilation
Mechanical ventilation is a lifesaving intervention and represents one of the most important treatments ever introduced in intensive care units, but it can cause lung damage if not used properly, knowledge of each mode is prudent for a safe utilization.
Victor Perez, Jamille Pasco
doaj   +1 more source