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.

Functional analysis of fibroblasts and macrophages in head and neck paragangliomas.

Background And Aim: Head and neck paragangliomas (HNPGN) are tumours that carry significant morbidity The role of the stroma in the pathogenesis of HNPGN is not completely understood. This study explores the profile of fibroblasts and macrophages in HNPGN.

Methods: Ten patients undergoing HNPGN surgery were recruited.

Lateral skull-base osteoradionecrosis: a 15-year series of 20 consecutive cases and a suggested management protocol.

Background: Temporal bone osteoradionecrosis is a rare but significant complication of radiation for head and neck malignancies. Various management techniques have been described, but no clear protocol exists.

Methods: A retrospective case review of patients with temporal bone osteoradionecrosis managed over 15 years was carried out to highlight multidisciplinary team (MDT) management.

Determinants of per- and polyfluoroalkyl substances (PFAS) exposure among Wisconsin residents.

Background: Per- and polyfluoroalkyl substances (PFAS) include thousands of manufactured compounds with growing public health concerns due to their potential for widespread human exposure and adverse health outcomes. While PFAS contamination remains a significant concern, especially from ingestion of contaminated food and water, determinants of the variability in PFAS exposure among regional and statewide populations in the United States remains unclear.

Objectives: The objective of this study was to leverage The Survey of the Health of Wisconsin (SHOW), the only statewide representative cohort in the US, to assess and characterize the variability of PFAS exposure in a general population.