Results 111 to 120 of about 6,224 (261)
Identifying Velopharyngeal Dysfunction in Head and Neck Cancer Patients
We evaluated the clinical presentation and treatment patterns of velopharyngeal dysfunction (VPD) following head and neck cancer therapy across three academic institutions. VPD demonstrated a highly variable and delayed onset, with radiation‐associated cases developing after a mean of 8.5 years and many patients presenting more than 10 years after ...
Kenneth Newman +8 more
wiley +1 more source
Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1
ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno +5 more
wiley +1 more source
ABSTRACT The congenital myasthenic syndromes are rare disorders of impaired signal transmission at the neuromuscular junction. Despite next generation sequencing facilitating the identification of variants in myasthenic‐associated genes, these variants are frequently of unknown significance and the clinical diagnosis can be delayed.
David Beeson
wiley +1 more source
Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley +1 more source
Tic-Like Repetitive Ear-Popping Behavior With Objective Eustachian Tube Opening in an Adult With Tourette Syndrome. [PDF]
Hoshino K +9 more
europepmc +1 more source
CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis
Abstract Objective To synthesize the prevalence of otolaryngologic manifestations in CHARGE syndrome (CS) to support otolaryngologists in delivering comprehensive management. Data Sources PubMed/MEDLINE, Embase, and Google Scholar were searched for English‐ and French‐language studies published from January 1980 through January 2025.
Camille Caron +5 more
wiley +1 more source
From the Mechanisms and Neurobiology to Treatment of Tic Disorders, Including Tourette Syndrome. [PDF]
Kano Y.
europepmc +1 more source
Abstract Objective To evaluate the efficacy of isolated adenoidectomy in managing pediatric sleep‐disordered breathing (SDB) and upper airway obstruction (UAO). Data Sources MEDLINE, EMBASE, and CENTRAL were systematically searched from inception through March 2025.
Hussein Smaily +6 more
wiley +1 more source
Excellent response to benzocaine spray in an 8-year-old African female with idiopathic palato-pharyngo-laryngeal myoclonus: a case report. [PDF]
Khaddour S +8 more
europepmc +1 more source

