Results 121 to 130 of about 52,033 (255)

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

Changes in the Epidemiology of Pediatric Olfactory Dysfunction Before and After COVID-19 Pandemic. [PDF]

Laryngoscope Investig Otolaryngol
Kishimoto Y, Mori E, Sakurai R, Tanaka H, Nagai M, Sekine R, Tei M, Otori N.   +7 more
europepmc   +1 more source

Association of Prodromal Parkinson's Disease‐Like Features in Long COVID With Dream‐Enactment Behaviours

Journal of Sleep Research, EarlyView.
ABSTRACT Emerging evidence links COVID‐19 to the predisposition of Parkinson's disease (PD). However, the relationship between long COVID and prodromal PD‐like features remains unclear, particularly in long COVID participants with dream‐enactment behaviours (DEBs) that may be suggestive of possible REM sleep behaviour disorder.
Siyi Gong, Yaping Liu, Bei Huang, Ngan Yin Chan, Eemil Partinen, Christian Benedict, Bjørn Bjorvatn, Ilona Merikanto, Luigi De Gennaro, Yves Dauvilliers, Brigitte Holzinger, Juliana Yordanova, Maria Korman, Cátia Reis, Anne‐Marie Landtblom, Sergio Mota‐Rolim, Michael R. Nadorff, Frances Chung, Yuichi Inoue, Harald Hrubos‐Strøm, Kentaro Matsui, Courtney J. Bolstad, Pei Xue, Colin A. Espie, Charles M. Morin, Thomas Penzel, Giuseppe Plazzi, Markku Partinen, Yun Kwok Wing   +28 more
wiley   +1 more source

Olfactory mucosal inflammation and barrier disruption correlate with perceived CRSwNP-associated olfactory dysfunction. [PDF]

World Allergy Organ J
Meng L, Liu S, Yu P, Yu J, Chen A, Ji H, Li T, Tu Y, Wan Y, Hao D, Shi L.   +10 more
europepmc   +1 more source

Reflex Syncope With Complete Heart Block Triggered by Swallowing in a Patient on Immune Checkpoint Inhibitor Therapy

Pacing and Clinical Electrophysiology, EarlyView.
ABSTRACT Immune checkpoint inhibitors (ICIs) are now standard of care for most advanced solid tumors. While effective, they are associated with immune‐related adverse events (irAEs), including rare autonomic complications. We present a patient with metastatic lung adenocarcinoma receiving nivolumab and ipilimumab who developed reflex syncope with ...
Ashley Bouzon, Michael Oropesa, Bardia Adibmoradi, Daniel Weitz   +3 more
wiley   +1 more source

Neurobiological mechanisms of olfactory dysfunction: a ten-year bibliometric and visualization analysis. [PDF]

Front Med (Lausanne)
Zhu Y, Chen Y, Izumoji G, Qu S, Wu D, Chu H, Wang Y, Sun H, Li X.   +8 more
europepmc   +1 more source

Mitochondrial control of ciliary gene expression and structure in striatal neurons

The Journal of Physiology, EarlyView.
Abstract figure legend Neurons drive animal behaviour by receiving and transmitting information and require energy, primarily supplied by mitochondria, to function. Additionally, neurons need to sense environmental changes to adapt, a function that is locally played by the primary cilia.
Dogukan H. Ulgen, Alessandro Chioino, Olivia Zanoletti, Albert Quintana, Elisenda Sanz, Carmen Sandi   +5 more
wiley   +1 more source

The Nutritional Impact of COVID-19-Induced Olfactory Dysfunction. [PDF]

OTO Open
Mastoloni EM, Tucker A, French E, Coelho DH, N3C consortium.   +4 more
europepmc   +1 more source

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

Living with a hidden disability - a qualitative study of post-COVID-19 olfactory dysfunction. [PDF]

Front Allergy
Mogensen DG, Dreyer P, Backer V, Jarden M.   +3 more
europepmc   +1 more source