Results 141 to 150 of about 2,203,451 (295)
MEK Inhibitor Associated Airway Injury in an Infant With Noonan Syndrome: A Case Report
The Laryngoscope, EarlyView.An infant with Noonan syndrome treated with trametinib developed extensive mucosal sloughing of the upper and lower airway, followed by severe supraglottic scarring. Clinicians should consider airway toxicity as a potential adverse effect of MEK inhibitor therapy.
Veronica Drozdowski‐Nuccio +4 more
wiley +1 more source
Background: Minimally invasive thoracotomies to repair selected congenital heart defects are considered only a cosmetic alternative approach by many; however, they represent the routine alternative in centers of expertise.MethodsPooled institutional data
Tobota, Zdzislaw +24 more
core +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background 22q11.2 deletion syndrome (22q11DS) is a multisystem genetic disorder associated with a significantly increased risk of early‐onset Parkinson's disease (EOPD). Management is challenging because psychiatric and cognitive comorbidities often limit advanced therapies such as deep brain stimulation (DBS). Cases We report 2 patients with
Valle Victor Andrés +10 more
wiley +1 more source
Navigating the Complexity: A Comprehensive Review of GSK‐3 Inhibition in Regenerative Medicine
Medicinal Research Reviews, EarlyView.ABSTRACT Glycogen synthase kinase‐3 (GSK‐3) is a central regulator of numerous cellular signaling pathways, with critical roles in metabolism, proliferation, differentiation, and tissue regeneration. This review explores the multifaceted effects of pharmacological GSK‐3 inhibition across multiple body districts, focusing on its highly context‐dependent
Davide Schiroli +5 more
wiley +1 more source
npj Genomic MedicineSeveral studies have demonstrated the value of large-scale human exome and genome data analysis to maximise gene discovery in rare diseases. Using this approach, we have analysed the exomes of 4747 cases and 52,881 controls to identify genes which confer
Enrique Audain +26 more
doaj +1 more source
Research in Nursing &Health, EarlyView.ABSTRACT The survival of infants and children with complex medical conditions continues to increase, underscoring the need to quantify technology dependence more effectively. Existing measures emphasize mortality risk and fail to capture the burden of ongoing technological support.
Ashlee J. Vance +5 more
wiley +1 more source
Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management
Otolaryngology–Head and Neck Surgery, EarlyView.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
PLoS ONEBackgroundCongenital heart defects are common and occur in approximately 0.9% of births. In France, the registries cover approximately 20% of the population but not the entirety of France; therefore, we aimed to update the incidence data for congenital ...
Gurvan Bourdon +7 more
doaj +1 more source
CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis
Otolaryngology–Head and Neck Surgery, EarlyView.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