Publications by authors named "Ruth Mizu"

Objective: The purpose of the study is to compare the incidence of early postoperative tracheotomy stoma wound complications in pediatric patients using a silver-impregnated barrier dressing (Mepilex Ag) versus a standard absorbent foam dressing (standard Mepilex).

Methods: This is a prospective, non-blinded, randomized trial of pediatric patients undergoing tracheotomy at a tertiary care children's hospital. Patients were randomized to receive Mepilex Ag versus standard Mepilex tracheostoma dressings following tracheotomy.

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Article Synopsis
  • * The study focuses on 48 de novo missense variants in GRIN1, GRIN2A, and GRIN2B that affect the M3 transmembrane helix, identified in children with conditions like epilepsy and developmental delays.
  • * Most of these variants lead to a gain-of-function effect, promoting NMDAR channel activity, reinforcing the importance of the M3 region in receptor function, and providing insights into how certain drugs may affect these variant receptors.
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Legionellosis among welders and other metalworkers is a rare but potentially underappreciated occupational hazard. The same mechanisms that predispose welders to severe pneumonia from and may similarly predispose them to infection. We present a case of a previously healthy, immunocompetent 31-year-old male welder presenting with three days of shortness of breath, hypoxia, high-grade fever, and blood-tinged sputum.

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NMDA receptors are ligand-gated ion channels that mediate excitatory neurotransmission. Most native NMDA receptors are tetrameric assemblies of two glycine-binding GluN1 and two glutamate-binding GluN2 subunits. Co-assembly of the glycine-binding GluN1 with glycine-binding GluN3 subunits (GluN3A-B) creates glycine activated receptors that possess strikingly different functional and pharmacological properties compared to GluN1/GluN2 NMDA receptors.

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N-methyl-D-aspartate receptors (NMDARs) mediate slow excitatory postsynaptic transmission in the central nervous system, thereby exerting a critical role in neuronal development and brain function. Rare genetic variants in the GRIN genes encoding NMDAR subunits segregated with neurological disorders. Here, we summarize the clinical presentations for 18 patients harboring 12 de novo missense variants in GRIN1, GRIN2A, and GRIN2B that alter residues in the M2 re-entrant loop, a region that lines the pore and is intolerant to missense variation.

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