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Plural molecular and cellular mechanisms of pore domain encephalopathy.
Elife
January 2025
Department of Neurology, Baylor College of Medicine, Houston, United States.
variants in children with neurodevelopmental impairment are difficult to assess due to their heterogeneity and unclear pathogenic mechanisms. We describe a child with neonatal-onset epilepsy, developmental impairment of intermediate severity, and G256W heterozygosity. Analyzing prior KCNQ2 channel cryoelectron microscopy models revealed G256 as a node of an arch-shaped non-covalent bond network linking S5, the pore turret, and the ion path.
View Article and Find Full Text PDFPredicting and Ranking Diabetic Ketoacidosis Risk among Youth with Type 1 Diabetes with a Clinic-to-Clinic Transferrable Machine Learning Model.
Diabetes Technol Ther
January 2025
Children's Mercy Kansas City, Endocrinology, Kansas City, Missouri, USA.
To use electronic health record (EHR) data to develop a scalable and transferrable model to predict 6-month risk for diabetic ketoacidosis (DKA)-related hospitalization or emergency care in youth with type 1 diabetes (T1D). To achieve a sharable predictive model, we engineered features using EHR data mapped to the T1D Exchange Quality Improvement Collaborative's (T1DX-QI) data schema used by 60+ U.S.
View Article and Find Full Text PDFComparison of Outcomes Between Low-Risk Aortic Valve Replacement Trials and a Surgical Registry.
JAMA Netw Open
January 2025
Division of Cardiothoracic and Vascular Surgery, Columbia University Irving Medical Center, New York, New York.
Importance: It remains unknown whether outcomes of the Placement of Aortic Transcatheter Valves 3 (PARTNER 3) and Evolut Low Risk trials are comparable with surgical outcomes in nontrial settings, considering the added risk of concomitant cardiac operations.
Objective: To compare 30-day mortality and stroke incidences of patients in the surgical aortic valve replacement (SAVR) arm of low-risk trials with those of similar patients in the US Society of Thoracic Surgeons Adult Cardiac Surgery Database (STS ACSD).
Design, Setting, And Participants: A cross-sectional sampling study was conducted of adults in the STS ACSD with severe aortic stenosis at low surgical risk for AVR who underwent SAVR during the years low-risk AVR trials (PARTNER 3 and Evolut Low Risk) were enrolling (calendar years 2016-2018).
Background: Ruxolitinib cream has demonstrated anti-inflammatory and antipruritic activity and was well tolerated in a phase 3 study in patients aged 2-11 years with mild to moderate atopic dermatitis (AD).
Objective: This study examined the safety, tolerability, pharmacokinetics, efficacy, and quality of life (QoL) with ruxolitinib cream under maximum-use conditions and with longer-term use.
Methods: Eligible patients were aged 2-11 years with moderate to severe AD [Investigator's Global Assessment (IGA) score 3-4], and ≥ 35% affected body surface area (BSA).
[The multimorbid patient-Risk stratification and indications in pancreatic surgery].
Chirurgie (Heidelb)
January 2025
Klinik und Poliklinik für Viszeral‑, Thorax- und Gefäßchirurgie, Universitätsklinikum und Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße 74, 01307, Dresden, Deutschland.
Background: Pancreatic surgery is still associated with significant morbidity. In a simultaneously increasingly ageing population with elevated morbidity, the risk stratification and indications for surgery are of particular importance.
Objective: Assessment of the impact of multimorbidity of patients on the postoperative outcome after pancreatic surgery.
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