Hypomorphic RAG2 Deficiency Promotes Selection of Self-Reactive B Cells.

Reduced function or hypomorphic variants in recombination-activating genes (RAG) 1 or 2 result in a broad clinical phenotype including common variable immunodeficiency (CVID) and even adult-onset disease. Milder RAG variants are less characterized. Here we describe the longitudinal course of a milder combined RAG deficiency in 3 of 7 siblings sharing the same RAG2 mutations over a 50-year study.

Longitudinal qualitative assessment of meaningful symptoms and relevance of WATCH-PD digital measures for people with early Parkinson's.

Background: Longitudinal qualitative data on what matters to people with Parkinson's disease are lacking and needed to guide patient-centered clinical care and development of outcome measures.

Objective: To evaluate change over time in symptoms, impacts, and relevance of digital measures to monitor disease progression in early Parkinson's.

Methods: In-depth, online symptom mapping interviews were conducted with 33 people with early Parkinson's at baseline and 1 year later to evaluate (A) symptoms, (B) impacts, and (C) relevance of digital measures to monitor personally relevant symptoms.

Anatomy-driven segmentation of parafoveal optical coherence tomography (OCT) measures may improve associations with clinical outcomes in multiple sclerosis.

Background: Previous investigations on optical coherence tomography (OCT) in multiple sclerosis (MS) focused on generalizable macular and peri-papillary regions without considering the anatomic variations of the retinal layer thickness.

Objective: This study aimed to assess the utility of parafoveal retinal layer thickness measured by OCT, underscoring its relationships with clinical outcomes in MS.

Methods: In this cross-sectional study, 214 people with MS (pwMS) and 57 age- and sex-matched healthy controls (HCs) were enrolled.

Parallel EEG-fNIRS assessments of covert cognition in behaviorally non-responsive ICU patients: A multi-task feasibility study in a case of acute motor sensory axonal neuropathy.

Background: Repeat neurological assessment is standard in cases of severe acute brain injury. However, conventional measures rely on overt behavior. Unfortunately, behavioral responses may be difficult or impossible for some patients.

Improving rupture status prediction for intracranial aneurysms using wall shear stress informatics.

Background: Wall shear stress (WSS) plays a crucial role in the natural history of intracranial aneurysms (IA). However, spatial variations among WSS have rarely been utilized to correlate with IAs' natural history. This study aims to establish the feasibility of using spatial patterns of WSS data to predict IAs' rupture status (i.

Marriage is associated with decreased lesion volumes and less brain atrophy in people with multiple sclerosis.

Background: Married or long-term partnered patients with chronic diseases generally have better outcomes than unmarried patients, likely due to the potential for multifaceted support. However, the impact of marital status on multiple sclerosis (MS) radiographic disease burden is currently unknown.

Objective: To compare total white matter hyperintensity lesion volumes, periventricular lesion volumes, and whole brain and grey matter volumes in married and unmarried people with MS (PwMS).

Retrospective discrimination of PNES and epileptic seizure types using blood RNA signatures.

Objectives: The ability to differentiate epileptic- and non-epileptic events is challenging due to a lack of reliable molecular seizure biomarker that provide a retrospective diagnosis. Here, we use next generation sequencing methods on whole blood samples to identify changes in RNA expression following seizures.

Methods: Blood samples were obtained from 32 patients undergoing video electroencephalogram (vEEG) monitoring.

Ocrelizumab dose selection for treatment of pediatric relapsing-remitting multiple sclerosis: results of the OPERETTA I study.

Background: The presented study identified the appropriate ocrelizumab dosing regimen for patients with pediatric-onset multiple sclerosis (POMS).

Methods: Patients with POMS aged 10-17 years were enrolled into cohort 1 (body weight [BW] < 40 kg, ocrelizumab 300 mg) and cohort 2 (BW ≥ 40 kg, ocrelizumab 600 mg) during a 24-week dose-exploration period (DEP), followed by an optional ocrelizumab (given every 24 weeks) extension period.

Primary Endpoints: pharmacokinetics, pharmacodynamics (CD19 B-cell count); secondary endpoint: safety; exploratory endpoints: MRI activity, protocol-defined relapses, Expanded Disability Status Scale (EDSS) score change.

MOG antibody-associated disease epidemiology in Olmsted County, USA, and Martinique.

Objectives: To report myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) epidemiology in two American regions using 2023 diagnostic criteria.

Patients And Methods: We compared age- and sex-adjusted incidence and prevalence of MOGAD per 2023 diagnostic criteria in Olmsted County (Minnesota [USA]) and Martinique (Caribbean [FR]) (01/01/2003-12/31/2018, prevalence day) using Poisson regression. Archived sera in 68-85% were available for MOG-IgG testing by live cell-based assay at Mayo Clinic.

Incidence and risk factors for skin cancer after heart transplantation: a systematic review and meta-analysis.

Studies have shown that patients who undergo heart transplantation (HTx) are at an increased risk for developing skin cancer. This condition can add physiological and psychological burden to patients. Therefore, assessing the incidence and identifying risk factors for skin cancer are crucial steps in its prevention.

Reduced antioxidant high-density lipoprotein function in heart failure with preserved ejection fraction.

Background: Heart failure (HF) is a heterogeneous clinical syndrome affecting a growing global population. Due to the high incidence of cardiovascular risk factors, a large proportion of the Western population is at risk for heart failure. Oxidative stress and inflammation play a crucial role in the pathophysiology of heart failure with preserved ejection fraction (HFpEF).

Improvement in vision-related quality-of-life using the NEI-VFQ-9 over 1-year in the Manhattan Vision Screening and Follow-up Study (NYC-SIGHT).

Purpose: To examine the nine-item National Eye Institute Vision Function Questionnaire (NEI-VFQ-9) scores at baseline and 12 months in participants enrolled in the Manhattan Vision Screening and Follow-up Study (NYC-SIGHT) and determine factors associated with improvements in vision-related quality-of-life (VRQOL).

Methods: Retrospective review of NEI-VFQ-9 scores at baseline and 12-month follow-up in a community-based eye health screening study conducted in Upper Manhattan, New York. Participants were age ≥ 40 years and older, living independently in public/affordable housing developments and able to provide informed consent.

Screening for Structural Heart Defects: A Single-Center Retrospective Cost Analysis for Fetal Echocardiography in Adults with Congenital Heart Disease.

Fetal echocardiography (FE) is recommended for parents with congenital heart disease (pCHD) due to a 3-6% recurrence risk of congenital heart disease (CHD). This study aimed to evaluate the cost of FE for detecting neonatal CHD in pCHD. FE data were collected between 12/2015 and 12/2022.

Patent Ductus Arteriosus Morphology Changes in Preterm Neonates Undergoing Transcatheter Device Closure.

Evaluate patent ductus arteriosus (PDA) morphology changes in the preterm neonate undergoing transcatheter PDA closure (TCPC). We propose the type F ductus is associated with lower corrected gestational age (CGA) and improved TCPC outcomes. Retrospective review of premature neonates undergoing TCPC at a large volume institution from November 2020 to November 2023.

A new database to guide reference material selection for dietary supplement and nutrition science.

Rigorous research on the health effects of dietary supplements and related nutritional interventions requires thorough chemical characterization of complex matrices for their composition of macro- and micronutrients, botanical phytochemicals, and potential contaminants. Reference materials (RMs) with metrologically traceable values for these specific properties are ideal analytical tools to ensure requisite chemical measurements are reliable. However, identifying and comparing appropriate RMs for studying dietary ingredients and their metabolites is challenging, creating a barrier to reproducible regulatory testing and research.

Technical considerations of cardiac computed tomography in children.

Cardiac computed tomography angiography (CTA) is a valuable tool in the assessment of congenital and acquired cardiac disease in children. The goal of cardiac CTA is to produce images that are free of motion and provide sufficient characterization of the anatomy in question. Given the complexity of pediatric patient characteristics, including patient size, heart rate, breath-holding capability, and variant anatomy, cardiac CTA technique must be individualized to the patient as well as the indication to answer the clinical question while also minimizing radiation exposure.

Self-affirmation intervention for patients newly diagnosed with advanced cancer: a preliminary efficacy trial.

Objective: Cancer diagnosis represents a life crisis. It remains unclear whether/what psychosocial intervention may enhance cancer patients' quality of life (QoL) during existential plight. This study aimed to examine preliminary efficacy of a brief writing intervention for patients newly diagnosed with advanced cancer with a focus on affirming personally important values and beliefs.

Glia: The Cellular Glue that binds Circadian Rhythms and Sleep.

Glia are increasingly appreciated as serving an important function in the control of sleep and circadian rhythms. Glial cells in Drosophila and mammals regulate daily rhythms of locomotor activity and sleep as well as homeostatic rebound following sleep deprivation. In addition, they contribute to proposed functions of sleep, with different functions mapping to varied glial subtypes.

Outcomes of mechanical thrombectomy for medium vessel occlusion in acute ischemic stroke patients with ASPECTS 4-5 vs. 6-7: a retrospective, multicenter, and multinational study.

Introduction: Mechanical thrombectomy (MT) efficacy in medium vessel occlusion (MeVO) stroke, particularly in patients with low Alberta Stroke Program Early Computed Tomography Score (ASPECTS), remains less explored.

Methods: This retrospective study analyzed data from 443 AIS patients treated with MT for MeVO and low ASPECTS (4-7) at 37 centers across North America, Asia, and Europe, from September 2017 to July 2021. Patients were categorized into ASPECTS of 4-5 and 6-7.

Hemodynamic response of the aortic valve during dobutamine onset then progressive aortic banding.

An increasing number of procedures over the past two decades for aortic stenosis (AS) reflects the combination of an aging population and less invasive transcatheter options. As a result, the hemodynamics of the aortic valve (AV) have gained renewed interest to understand its behavior and to optimize patient selection. We studied the hemodynamic relationship between pressure loss (ΔP) and transvalvular flow (Q) of the normal AV as well as the impact of a variable supravalvular stenosis.

Sociodemographic Variables Associated with Self-reported Access to Mental Healthcare Among Brazilian Immigrant Women in the U.S.

Brazilians are a rapidly growing immigrant population in the United States (U.S.), yet little is known about their mental health and access to mental healthcare.

Civil Disobedience in Democratic Education.

The study's goal was to examine the tension between democratic school governance, requiring its participants to obey school rules, even though they might disagree with those rules, and personal responsibility, requiring the participants to act morally, in accordance with their conscience and their sense of what is right and makes sense for them, regardless of the democratic nature of the imposed school rules. This examination was based on three sources: 1) three Open Symposia with American and Russian democratic educationalists, 2) my review of the existing literature on civil disobedience and democratic education, and 3) my empirical study based on the interviews of participants of an American private democratic school, known as The Circle School, regarding their instances of civil disobedience. The three Open Symposia allowed me to develop a working definition of civil disobedience as a particular principled disobedience.

Third-Generation Trabecular Micro-Bypass Implantation with Phacoemulsification for Glaucoma.

Introduction: This retrospective, consecutive, real-world case series assessed the efficacy and safety of third-generation trabecular micro-bypass stent implantation (iStent infinite) with phacoemulsification in patients with mild-to-moderate primary open-angle glaucoma (POAG).

Methods: Patients underwent phacoemulsification combined with implantation of iStent infinite (containing three stents) by a single U.S.

Real-World Effectiveness of Long-Acting Injectable and Oral Antipsychotic Agents in US Medicare Patients with Schizophrenia.

Introduction: Daily oral antipsychotics (OAPs) are the mainstay of schizophrenia treatment; however, long-acting injectable antipsychotics (LAIs) are associated with better treatment adherence and improved outcomes.

Methods: This study assessed the real-world comparative effectiveness of LAIs and daily OAPs using claims data from a nationally representative sample of fee-for-service Medicare beneficiaries with schizophrenia. Antipsychotic discontinuation, psychiatric hospitalization, and treatment failure were compared relative to different reference groups using within-individual Cox regression models.