Publications by authors named "M D Seear"
Article Synopsis
- STAT6 is a key transcription factor involved in allergic inflammation, and researchers identified 16 patients from 10 families across three continents with severe allergic conditions related to its dysfunction.
- These patients exhibited various symptoms like early-onset immune issues, treatment-resistant skin conditions, asthma, and food allergies, all linked to rare mutations in the STAT6 gene that lead to a gain-of-function phenotype.
- The study suggests that these mutations cause a novel autosomal dominant allergic disorder and highlights the successful use of the anti-IL-4Rα antibody, dupilumab, as a precision treatment for managing symptoms and improving immune responses.
Article Synopsis
- Primary atopic disorders are genetic immune conditions that lead to severe allergic responses, and studying these can help understand and potentially treat common allergic diseases.
- A specific mutation in the JAK1 gene causes severe allergic reactions and changes in blood cell development, as seen in studies using zebrafish and human stem cells.
- Treatment with the drug ruxolitinib in children with this JAK1 mutation significantly improved their growth and allergic symptoms, highlighting the importance of JAK1 in immune system regulation and therapy.
Objectives: To describe the current clinical practice patterns of Canadian pediatric respirologists at pediatric tertiary care institutions regarding chronic tracheostomy tube care and management of home invasive ventilation.
Methods: A pediatric respirologist/pediatrician with expertise in tracheostomy tube care and home ventilation was identified at each Canadian pediatric tertiary care center to complete a 59-item survey of multiple choice and short answer questions. Domains assessed included tracheostomy tube care, caregiver competency and home monitoring, speaking valves, medical management of tracheostomy complications, decannulation, and long-term follow-up.