Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.

Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.

Neoadjuvant Immunotherapy in Resectable HNSCC: An Updated Systematic Review and Meta-analysis.

Background: Immunotherapy is a recently recognised FDA-approved treatment for R/M HNSCC. Our goal is to explore the safety profile and the efficacy of immunotherapy in the neoadjuvant setting before surgery in mucosal head and neck cancer.

Methods: Three electronic databases had been systematically searched through March 2024.

Miro1 expression alters global gene expression, ERK1/2 phosphorylation, oxidation, and cell cycle progression.

Subcellular mitochondrial positioning in cells is necessary for localized energy and signaling requirements. Mitochondria are strategically trafficked throughout the cytoplasm via the actin cytoskeleton, microtubule motor proteins, and adaptor proteins. Miro1, an outer mitochondrial membrane adaptor protein, is necessary for attachment of mitochondria to microtubule motor proteins for trafficking.