Structural Alterations in the Gray Matter Volume in Rapid-Onset Dystonia-Parkinsonism.

Background: Previously, we identified decreased thalamic blood flow in patients with ATP1A3 variants.

Objective: This study evaluated structural gray matter organization in rapid-onset dystonia-parkinsonism (RDP) patients compared with controls and two phenotypically overlapping movement disorders.

Methods: Structural magnetic resonance imaging data were examined for whole-brain gray matter volume (GMV) abnormalities in 17 RDP patients, 20 isolated dystonia patients, 20 Parkinson's disease (PD) patients, and 20 controls.

Implementing electronic health record-based anxiety and depression screening in an epilepsy clinic: Theory-based implementation strategy and pre-post quantitative outcomes using Reach, Effectiveness, Adoption, Implementation, and Maintenance.

Introduction: Anxiety and depression in epilepsy are common and impactful. Screening with validated measures at every epilepsy visit is a quality measure, yet screening remains limited due to time constraints.

Methods: This study aimed to develop an implementation strategy for anxiety and depression screening at an epilepsy center and evaluate it in a pre-post design with RE-AIM (Reach, Effectiveness, Adoption, Implementation, and Maintenance).

Neurological and psychiatric characterization of rapid-onset dystonia-parkinsonism over time.

Introduction: The onset of symptoms in Rapid-onset dystonia-parkinsonism (RDP) is typically over days to weeks and is often triggered by stressors like fever or childbirth. Limited information is available on how the motor and nonmotor symptoms evolve over the course of the disease. Our longitudinal study analyzed data from a cohort of RDP patients, documenting their symptoms across multiple visits.

Transposable element 5mC methylation state of blood cells predicts age and disease.

Transposable elements (TEs) are DNA sequences that expand selfishly in the genome, possibly causing severe cellular damage. While normally silenced, TEs have been shown to activate during aging. DNA 5-methylcytosine (5mC) is one of the main epigenetic modifications by which TEs are silenced and has been used to train highly accurate age predictors.

Quality of life during usual epilepsy care for anxiety or depression symptoms: Secondary patient-reported outcomes in a randomized trial of remote assessment methods.

Background And Objectives: Anxiety and depression are highly prevalent and impactful in epilepsy. American Academy of Neurology quality measures emphasize anxiety and depression screening and quality of life (QOL) measurement, yet usual epilepsy care QOL and anxiety/depression outcomes are poorly characterized. The main objective was to assess 6-month QOL, anxiety and depression during routine care among adults with epilepsy and baseline anxiety or depression symptoms; these were prespecified secondary outcomes within a pragmatic randomized trial of remote assessment methods.

Rapid-onset dystonia-parkinsonism is associated with reduced cerebral blood flow without gray matter changes.

Purpose: Previous research showed discrete neuropathological changes associated with rapid-onset dystonia-parkinsonism (RDP) in brains from patients with an variant, specifically in areas that mediate motor function. The purpose of this study was to determine if magnetic resonance imaging methodologies could identify differences between RDP patients and variant-negative controls in areas of the brain that mediate motor function in order to provide biomarkers for future treatment or prevention trials.

Methods: Magnetic resonance imaging voxel-based morphometry and arterial spin labeling were used to measure gray matter volume and cerebral blood flow, respectively, in cortical motor areas, basal ganglia, thalamus, and cerebellum, in RDP patients with variants ( = 19; mean age = 37 ± 14 years; 47% female) and variant-negative healthy controls ( = 11; mean age = 34 ± 19 years; 36% female).

Maternal influenza vaccination preferentially boosts hemagglutinin stem-specific antibody resulting in efficient transplacental transfer of stem-specific IgG.

Objective: The objective of this study was to evaluate hemagglutinin stem-specific antibody response to the influenza vaccine during pregnancy and its transfer to the infant.

Methods: The authors assessed antibody titers among maternal participants and their paired neonate's cord blood (CB) using enzyme-linked immunoassay. Fifteen pregnant participants pre-2019 and post-2019 seasonal influenza vaccine were compared with 18 prenatally vaccinated participants with paired neonatal CB samples.

Positive anxiety or depression screen despite ongoing antidepressant prescription in people with epilepsy: A large cross-sectional analysis.

Purpose: While antidepressants are recommended to manage anxiety or depression in epilepsy, limited effectiveness data exist in real-world epilepsy samples, and prior work indicated frequent positive screens despite antidepressant prescription. In response, this study evaluates factors associated with positive anxiety or depression screen during ongoing antidepressant prescription.

Methods: Clinical and sociodemographic characteristics were collected among consecutive adult epilepsy clinic patients completing validated anxiety and depression instruments.

Patient-reported outcomes via electronic health record portal versus telephone: a pragmatic randomized pilot trial of anxiety or depression symptoms in epilepsy.

Objective: To close gaps between research and clinical practice, tools are needed for efficient pragmatic trial recruitment and patient-reported outcome collection. The objective was to assess feasibility and process measures for patient-reported outcome collection in a randomized trial comparing electronic health record (EHR) patient portal questionnaires to telephone interview among adults with epilepsy and anxiety or depression symptoms.

Materials And Methods: Recruitment for the randomized trial began at an epilepsy clinic visit, with EHR-embedded validated anxiety and depression instruments, followed by automated EHR-based research screening consent and eligibility assessment.

Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension.

Background: The availability of whole-genome sequencing data in large studies has enabled the assessment of coding and noncoding variants across the allele frequency spectrum for their associations with blood pressure.

Methods: We conducted a multiancestry whole-genome sequencing analysis of blood pressure among 51 456 Trans-Omics for Precision Medicine and Centers for Common Disease Genomics program participants (stage-1). Stage-2 analyses leveraged array data from UK Biobank (N=383 145), Million Veteran Program (N=318 891), and Reasons for Geographic and Racial Differences in Stroke (N=10 643) participants, along with whole-exome sequencing data from UK Biobank (N=199 631) participants.

Predictors of Influenza and Pneumococcal Vaccination Among Participants in the Women's Health Initiative.

Objective: Older adults typically experience higher rates of severe disease and mortality than the general population after contracting an infectious disease. Vaccination is critical for preventing disease and severe downstream outcomes; however, vaccination rates among older adults are suboptimal. We assessed predictors associated with pneumococcal and seasonal influenza vaccination among older women.

Analysis of longitudinal head impact exposure and white matter integrity in returning youth football players.

Objective: The objective of this study was to characterize changes in head impact exposure (HIE) across multiple football seasons and to determine whether changes in HIE correlate with changes in imaging metrics in youth football players.

Methods: On-field head impact data and pre- and postseason imaging data, including those produced by diffusion tensor imaging (DTI), were collected from youth football athletes with at least two consecutive seasons of data. ANCOVA was used to evaluate HIE variations (number of impacts, peak linear and rotational accelerations, and risk-weighted cumulative exposure) by season number.

Text Messaging and Home Blood Pressure Monitoring for Patients with Uncontrolled Hypertension: Proposal for a Feasibility Pilot Randomized Controlled Trial.

Background: A decrease in blood pressure, even modestly (ie, 2 mmHg), lowers cardiovascular morbidity and mortality. Low patient adherence to antihypertensive medication is the most significant modifiable patient-related barrier to achieving controlled blood pressure. Preliminary studies have shown that SMS text messaging and home blood pressure monitoring (HBPM) can be effective in promoting medication adherence and blood pressure control.

Examining brief and ultra-brief anxiety and depression screening methods in a real-world epilepsy clinic sample.

Objective: Recent epilepsy quality measure recommendations for depression and anxiety screening endorse ultra-brief screeners, the Patient Health Questionnaire-2 (PHQ-2) and Generalized Anxiety Disorder-2 (GAD-2). Thus, it is important to assess how symptom detection may be affected using ultra-brief screeners compared with slightly longer, well-validated instruments: Neurological Disorders Depression Inventory-Epilepsy (NDDI-E) and Generalized Anxiety Disorder-7 (GAD-7). The objective was to compare symptom detection by brief versus ultra-brief depression and anxiety screeners in a large real-world epilepsy clinic sample.

Neurologist prescribing versus psychiatry referral: Examining patient preferences for anxiety and depression management in a symptomatic epilepsy clinic sample.

Objective: Anxiety and depression symptoms in epilepsy are common, impactful and under-recognized and undertreated. While prior survey data suggests equipoise among epileptologists for managing anxiety and/or depression via prescribing in the epilepsy clinic versus psychiatry referral, patient preferences are unknown and should potentially influence practice habits among epileptologists. Thus, the primary objective of this study was to determine patient preference for anxiety and/or depression prescribing by neurologists versus psychiatry referral among an adult epilepsy clinic sample of symptomatic patients.

Auditory-perceptual voice and speech evaluation in ATP1A3 positive patients.

Introduction: Bulbar symptoms are frequent in patients with rapid-onset dystonia-parkinsonism (RDP). RDP is caused by ATP1A3 mutations, with onset typically within 30 days of stressor exposure. Most patients have impairments in speech (dysarthria) and voice (dysphonia).

Dual-Outcome Intention-to-Treat Analyses in the Women's Health Initiative Randomized Controlled Hormone Therapy Trials.

Dual-outcome intention-to-treat hazard rate analyses have potential to complement single-outcome analyses for the evaluation of treatments or exposures in relation to multivariate time-to-response outcomes. Here we consider pairs formed from important clinical outcomes to obtain further insight into influences of menopausal hormone therapy on chronic disease. As part of the Women's Health Initiative, randomized, placebo-controlled hormone therapy trials of conjugated equine estrogens (CEE) among posthysterectomy participants and of these same estrogens plus medroxyprogesterone acetate (MPA) among participants with an intact uterus were carried out at 40 US clinical centers (1993-2016).

Who is willing to participate in research? A screening model for an anxiety and depression trial in the epilepsy clinic.

Objective: Anxiety and depression in epilepsy are prevalent, associated with poor outcomes, underrecognized, undertreated, and thus a key area of need for treatment research. The objective of this study was to assess factors associated with research participation among epilepsy clinic patients who screened positive for anxiety or depression. This was accomplished by characterizing clinical and psychiatric factors among patients seen in an epilepsy clinic and evaluating which factors were associated with consent for potential research participation, via a combined clinical and research screening model.

Cognitive resilience among APOE ε4 carriers in the oldest old.

Objectives: Relatively few APOE ε4+ carriers survive to old age (age 80+) without cognitive impairment (CI); thus, little is known about distinguishing characteristics of resilient APOE ε4+ carriers. Herein, we describe the sociodemographic characteristics of a large sample of resilient APOE ε4+ women from the Women's Health Initiative Memory Study (WHIMS) and compare them to noncarriers and APOE ε4+ women who developed CI before age 80.

Methods: Women were recruited for clinical trials evaluating postmenopausal hormone therapy and incidence of dementia.

Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing.

Background And Objectives: Rapid-onset dystonia-parkinsonism (RDP) is caused by mutations in the ATP1A3 gene, which codes for the α-3 subunit of the Na /K ATPase. It has been characterized by rapid-onset bulbar dysfunction, limb dystonia, bradykinesia, and a rostrocaudal spatial gradient of expression, usually after a physiologic trigger. We reexamined whether these features were in fact characteristic.

Dementia outcomes after addition of proxy-based assessments for deceased or proxy-dependent participants.

Objectives: As people age and the incidence of dementia increases, studies of cognitive function continue to be of importance. Ascertaining cognitive data through different mechanisms is necessary to address missing data concerns.

Methods: The Dementia Questionnaire (DQ), which utilizes proxy-based assessments, is a potential tool to determine cognitive status in participants no longer being followed per traditional study protocol.