Knock-in Rabbit Model of Long QT Syndrome Type-2, Epilepsy, and Sudden Death.

Background: Long QT Syndrome Type-2 (LQT2) is due to loss-of-function variants. encodes K 11.1 that forms a delayed-rectifier potassium channel in the brain and heart.

Establishing Effective Patient Engagement Through a Terms of Reference to Foster Inclusivity and Empowerment in Research: Example From a Healthcare Transition Quality Indicators Project.

Introduction: Patient engagement in research aims to foster meaningful partnerships, integrating patient experiences into the research process. This paper describes the development of a Terms of Reference (ToR) to support these meaningful partnerships. While engagement improves data collection and empowerment, ineffective engagement can lead to negative outcomes.

Immunotherapy with biodegradable nanoparticles encapsulating the oligosaccharide galactose-alpha-1,3-galactose enhance immune tolerance against alpha-gal sensitization in a murine model of alpha-gal syndrome.

IgE antibodies against the mammalian oligosaccharide allergen galactose-α-1,3-galactose (αGal) can result in a severe allergic disease known as alpha-gal syndrome (AGS). This syndrome, acquired by tick bites that cause αGal sensitization, leads to allergic reactions after ingestion of non-primate mammalian meat and mammalian-derived products that contain αGal. Allergen-specific immunotherapies for this tickborne allergic syndrome are understudied, as are the immune mechanisms of allergic desensitization that induce clinical tolerance to αGal.

Early recanalization after tenecteplase versus alteplase: Experience in a large stroke network.

Introduction: Previously published data are conflicting regarding the ability of tenecteplase versus alteplase to produce early recanalization of an intracranial large vessel occlusion. We compared the performance of each thrombolytic in a stroke network.

Methods: We queried our prospectively collected code stroke registry for basilar, internal carotid, or proximal middle cerebral artery occlusion patients treated with intravenous thrombolysis from 11/17/2021-9/16/2023.

Sub-10 μm Soft Interlayers Integrating Patterned Multivalent Biomolecular Binding Environments.

Designing surfaces that enable controlled presentation of multivalent ligand clusters (e.g., for rapid screening of biomolecular binding constants or design of artificial extracellular matrices) is a cross-cutting challenge in materials and interfacial chemistry.

First autochthonous case of Angiostrongylus vasorum in a domestic dog in the United States.

Objective: To describe the clinical presentation, diagnostic findings, and medical management of the first suspected autochthonous case of a dog in the US diagnosed with Angiostrongylus vasorum, the French heartworm.

Animal: A 10-month-old Goldendoodle born in Oregon and residing in Washington State.

Clinical Presentation, Progression, And Procedures: The dog presented for evaluation of intermittent vomiting and diarrhea.

Neurological outcomes for patients meeting radiographic criteria for DEFUSE 3 and SELECT2.

Background: The DEFUSE 3 and SELECT2 thrombectomy trials included some patients with similar radiographic profiles, although the rates of good functional outcomes differed widely between the studies.

Objective: To report neurological outcomes for patients who meet CT and CT perfusion (CTP) inclusion criteria common to both DEFUSE 3 and SELECT2.

Methods: Retrospective study of thrombectomy patients, presenting between November 2016 and December 2023 to a large health system, with Alberta Stroke Program Early CT score ≥6, core infarction 50-69 mL, mismatch ratio ≥1.

Intestinal Permeability, Irritable Bowel Syndrome with Constipation, and the Role of Sodium-Hydrogen Exchanger Isoform 3 (NHE3).

Increased intestinal permeability has been identified as one of the many pathophysiological factors associated with the development of irritable bowel syndrome (IBS), a common disorder of gut-brain interaction. The layer of epithelial cells that lines the intestine is permeable to a limited degree, and the amount of paracellular permeability is tightly controlled to enable the absorption of ions, nutrients, and water from the lumen. Increased intestinal permeability to macromolecules can be triggered by a variety of insults, including infections, toxins from food poisoning, or allergens, which in turn cause an inflammatory response and are associated with abdominal pain in patients with IBS.

Utility of hydroxychloroquine laboratory monitoring in dermatologic and rheumatologic patients.

Hydroxychloroquine (HCQ) is an immunomodulator used in dermatology and rheumatology. Side effects may be observed on routine monitoring studies before they become clinically apparent. The goal of this retrospective chart review was to assess laboratory abnormalities in dermatologic and rheumatologic patients taking HCQ.

Patient, caregiver and other knowledge user engagement in consensus-building healthcare initiatives: a scoping review protocol.

Introduction: Patient engagement and integrated knowledge translation (iKT) processes improve health outcomes and care experiences through meaningful partnerships in consensus-building initiatives and research. Consensus-building is essential for engaging a diverse group of experienced knowledge users in co-developing and supporting a solution where none readily exists or is less optimal. Patients and caregivers provide invaluable insights for building consensus in decision-making around healthcare, policy and research.

Effects of plant diversity on productivity strengthen over time due to trait-dependent shifts in species overyielding.

Plant diversity effects on community productivity often increase over time. Whether the strengthening of diversity effects is caused by temporal shifts in species-level overyielding (i.e.

Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation.

The identification of neurodevelopmental defects in a patient harboring a heterozygous de novo missense variant (NM_006561.4, c.1517G > A, p.

DHDDS and NUS1: A Converging Pathway and Common Phenotype.

Background: Variants in dehydrodolichol diphosphate synthetase (DHDDS) and nuclear undecaprenyl pyrophosphate synthase 1 (NUS1) cause a neurodevelopmental disorder, classically with prominent epilepsy. Recent reports suggest a complex movement disorder and an overlapping phenotype has been postulated due to their combined role in dolichol synthesis.

Cases: We describe three patients with heterozygous variants in DHDDS and five with variants affecting NUS1.

Engagement With a Remote Symptom-Tracking Platform Among Participants With Major Depressive Disorder: Randomized Controlled Trial.

Background: Multiparametric remote measurement technologies (RMTs), which comprise smartphones and wearable devices, have the potential to revolutionize understanding of the etiology and trajectory of major depressive disorder (MDD). Engagement with RMTs in MDD research is of the utmost importance for the validity of predictive analytical methods and long-term use and can be conceptualized as both objective engagement (data availability) and subjective engagement (system usability and experiential factors). Positioning the design of user interfaces within the theoretical framework of the Behavior Change Wheel can help maximize effectiveness.

Predictors of devastating functional outcome despite successful basilar thrombectomy.

Background: Basilar thrombosis frequently leads to poor functional outcomes, even with good endovascular reperfusion. We studied factors associated with severe disability or death in basilar thrombectomy patients achieving revascularization.

Methods: We retrospectively analyzed records from a health system's code stroke registry, including successful basilar thrombectomy patients from January 2017 to May 2023 who were evaluated with pretreatment computed tomography perfusion.

Design and Implementation of a New Orientation Program Based on Core Competencies and a Clinical Mentor Model.

A large pediatric hospital redesigned the traditional task-based orientation program to one based on the Synergy Model for Patient Care nurse competencies, enhanced identification of learning needs, critical thinking exercises, and use of experienced staff in the role of clinical mentor. Development of a role to coordinate the learning experiences of the new hire was essential to creation of a model built upon the framework of the core competencies needed to care for a unit's population of patients.

Building-Block Size Mediates Microporous Annealed Particle Hydrogel Tube Microenvironment Following Spinal Cord Injury.

Spinal cord injury (SCI) is a life-altering event, which often results in loss of sensory and motor function below the level of trauma. Biomaterial therapies have been widely investigated in SCI to promote directional regeneration but are often limited by their pre-constructed size and shape. Herein, the design parameters of microporous annealed particles (MAPs) are investigated with tubular geometries that conform to the injury and direct axons across the defect to support functional recovery.