Publications by authors named "J A Bain"
Objective: To characterize early physiologic stresses imposed by surgery by applying metabolomic analyses to deeply phenotype pre- and postoperative plasma and urine of patients undergoing elective surgical procedures.
Background: Patients experience perioperative stress through depletion of metabolic fuels. Bowel stasis or injury might allow more microbiome-derived uremic toxins to enter the blood, while the liver and kidney are simultaneously clearing analgesic and anesthetic drugs.
Introduction: Extracorporeal membrane oxygenation (ECMO) provides critical support to patients in severe cardiac and respiratory failure, but it requires anticoagulation to prevent complications like bleeding and thrombosis. Heparin, the primary anticoagulant utilized, is monitored by activated partial thromboplastin time (aPTT) and anti-Factor Xa (AntiXa) levels. Discordance between the two assays complicates its titration and the impact on patient outcomes is not well-established.
View Article and Find Full Text PDFImportance: Single gene variants can cause cerebral palsy (CP) phenotypes, yet the impact of genetic diagnosis on CP clinical management has not been systematically evaluated.
Objective: To evaluate how frequently genetic testing results would prompt changes in care for individuals with CP and the clinical utility of precision medicine therapies.
Data Sources: Published pathogenic or likely pathogenic variants in OMIM genes identified with exome sequencing in clinical (n = 1345) or research (n = 496) cohorts of CP were analyzed.
A strategic research plan (SRP) serves as a compass for the patient advocacy organizations driving the therapeutic options for their rare disorder. The MED13L Foundation commissioned the SRP in 2022 through COMBINEDBrain, a consortium of patient advocacy organizations of rare neurodevelopmental disorders, working toward clinical trial readiness. The MED13L Foundation SRP is an objective evaluation of MED13L literature including clinical and basic science knowledge interwoven with an assessment of preclinical trial readiness tools necessary for achieving therapeutic interventions.
View Article and Find Full Text PDFMotor phenotypes associated with genetic neurodevelopmental disorders.
Ann Clin Transl Neurol
December 2024
Article Synopsis
- Researchers are studying monogenic disorders linked to neurodevelopmental disorders (NDDs) like autism and intellectual disability, which often include motor impairments.
- They analyzed data from 959 patients with 57 genetic disorders, finding that many had low motor standard scores and notable delays in motor milestones like sitting and walking.
- The study revealed a range of motor issues among patients, including common conditions like hypotonia and cerebral palsy, highlighting the need for more detailed investigation into these motor phenotypes.