Racial Disparities in Time to Huntington Disease Diagnosis in North America: An ENROLL-HD Analysis.

Background And Objectives: There are well-documented racial and ethnic disparities in access to neurologic care and disease-specific outcomes. Although contemporary clinical and neurogenetic understanding of Huntington disease (HD) is thanks to a decades-long study of a Venezuelan cohort, there are a limited number of studies that have evaluated racial and ethnic disparities in HD. The goal of this study was to evaluate disparities in time from symptom onset to time of diagnosis of HD.

IDH1 mutation inhibits differentiation of astrocytes and glioma cells with low oxoglutarate dehydrogenase expression by disturbing α-ketoglutarate-related metabolism and epigenetic modification.

Isocitrate dehydrogenase (IDH) mutations frequently occur in lower-grade gliomas and secondary glioblastomas. Mutant IDHs exhibit a gain-of-function activity, leading to the production of D-2-hydroxyglutarate (D-2HG) by reducing α-ketoglutarate (α-KG), a central player in metabolism and epigenetic modifications. However, the role of α-KG homeostasis in IDH-mutated gliomagenesis remains elusive.

Environment scan of generative AI infrastructure for clinical and translational science.

This study reports a comprehensive environmental scan of the generative AI (GenAI) infrastructure in the national network for clinical and translational science across 36 institutions supported by the CTSA Program led by the National Center for Advancing Translational Sciences (NCATS) of the National Institutes of Health (NIH) at the United States. Key findings indicate a diverse range of institutional strategies, with most organizations in the experimental phase of GenAI deployment. The results underscore the need for a more coordinated approach to GenAI governance, emphasizing collaboration among senior leaders, clinicians, information technology staff, and researchers.

Targeted Next-Generation Sequencing in Pneumonia: Applications in the Detection of Responsible Pathogens, Antimicrobial Resistance, and Virulence.

Background: Targeted next-generation sequencing (tNGS) is a high-throughput and cost-effective diagnostic alternative for pneumonia, with the ability to simultaneously detect pathogens, antimicrobial resistance genes, and virulence genes. We aimed to explore the applicability of tNGS in the co-detection of the responsible pathogens, antimicrobial resistance (AMR) genes, and virulence genes in patients with pneumonia.

Methods: A prospective study was conducted among patients with suspected pneumonia at Ruijin Hospital from March 1 to May 31, 2023.

A multi-country cohort database study to assess pregnancy and infant outcomes after potential maternal or paternal exposure to cladribine tablets in the treatment of multiple sclerosis: the CLEAR study methods and status update.

Background: Cladribine tablets are contraindicated during pregnancy; therefore, safety data on pregnancies exposed to this treatment are limited. CLEAR collects and describes pregnancy outcomes in this understudied population.

Objectives: To describe the main features of the CLEAR study design, including the data sources and the methodological approach, and provide a status update.

Cryopreservation of primary neonatal rat oligodendrocytes and recapitulation of oligodendrocyte characteristics.

Introduction: , primary rat oligodendrocytes (OLs) are widely used for research on OL development, physiology, and pathophysiology in demyelinating diseases such as multiple sclerosis. Primary culture methods for OLs from rats have been developed and improved over time, but there are still multiple aspects in which efficiency can be boosted.

Methods: To make use of excess oligodendrocyte progenitor cells (OPCs) from primary cultures, a cryopreservation process utilizing a commercially available serum-free cryopreservation medium was established to passage and freeze OPCs at -80°C for later use.

Genetic variation in patent foramen ovale: a case-control genome-wide association study.

Background: Patent foramen ovale (PFO) is a congenital defect between the atria, resulting in abnormal hemodynamics. We conducted a genome-wide association study (GWAS) to identify common genetic variants associated with PFO.

Methods: We performed a whole genome sequencing in a discovery cohort of 3,227 unrelated Chinese participants screened for PFO via contrast transthoracic echocardiography (cTTE).

Prognostic value of multi-PLD ASL radiomics in acute ischemic stroke.

Introduction: Early prognosis prediction of acute ischemic stroke (AIS) can support clinicians in choosing personalized treatment plans. The aim of this study is to develop a machine learning (ML) model that uses multiple post-labeling delay times (multi-PLD) arterial spin labeling (ASL) radiomics features to achieve early and precise prediction of AIS prognosis.

Methods: This study enrolled 102 AIS patients admitted between December 2020 and September 2024.

Strengths of pelvic floor muscles in women with multiple sclerosis and its relationship with urinary incontinence and quality of life.

Background: Multiple sclerosis (MS) is a debilitating autoimmune disease that mostly affects women.

Objectives: In this study we evaluated the relationship of pelvic muscle strengths with urinary incontinence and quality of life in women with MS.

Materials And Methods: In this cross-sectional study 87 women with MS were recruited.

Ketogenic diet treatment for super-refractory status epilepticus in the intensive care unit: feasibility, safety and effectiveness.

Background And Aims: To investigate the feasibility, safety and effectiveness of the ketogenic diet (KD) for super-refractory status epilepticus (SRSE) in the intensive care unit (ICU).

Methods: We conducted a prospective investigation on patients with SRSE treated with the KD. The primary outcome measures were ketosis development as a biomarker of feasibility and resolution of SRSE as effectiveness.

Altered amplitude of low-frequency fluctuation and functional connectivity in patients with acute unilateral vestibulopathy: a resting-state fMRI study.

Objective: To investigate changes of brain functional activity in patients with acute unilateral vestibulopathy (AUVP) using functional magnetic resonance imaging (fMRI).

Methods: We studied 32 AUVP patients and 30 healthy controls (HC) who received resting-state fMRI scanning. Methods of voxel-based amplitude of low-frequency fluctuation (ALFF) and seed-based functional connectivity (FC) were adopted to compare the difference in brain function between the two groups.

Small subcortical ischemic infarction and other DWI lesions establish predictive model for MES.

Objective: The relationship between small subcortical ischemic infarction remains poorly characterized. Therefore, the present study aimed to investigate the association between artery-to-artery embolization and small subcortical infarctions.

Methods: This retrospective observational cross-sectional study enrolling 230 patients with acute middle cerebral artery (MCA) stroke classified into the microembolic signals-positive (MES+) and MES-negative (MES-) groups.

Case report: Endolymphatic sac tumor with blurred vision.

Introduction: Endolymphatic sac tumor (ELST) is a rare neoplasm that exhibits aggressive growth primarily in the endolymphatic capsule and can potentially affect nearby neurovascular structures. The diagnosis of ELST poses challenges due to its low prevalence, gradual progression, and nonspecific symptomatology. It is currently believed that prompt surgical intervention is recommended for endolymphatic sac tumors upon diagnosis.

Multimodal Magnetic Resonance Findings in Parkinson's Disease With "Antecedent Essential Tremor": A Case Series of a Large Kindred.

Background: The clinical pictures of essential tremor (ET) and Parkinson's disease (PD) are often quite mimic at the early stage, and longstanding ET may ultimately develop to PD, that is, PD with "antecedent ET". Early diagnosis and differentiation of the two are essential for predicting disease progression and formulating individualized treatment plans. However, current approaches remain challenging.

Research Best Practices for Eye Stroke Vision Rehabilitation: A Qualitative Study.

Purpose: Central retinal artery occlusion, also known as an eye stroke, results in visual impairment and functional challenges. Our study objectives were to identify meaningful measures and factors that indicate or enable successful recovery after eye stroke and to determine optimal processes to support research, including exploring barriers and facilitators to successful research participation.

Methods: We used qualitative methods including the 5Ts Framework (target population identification, team composition, time considerations, tips to accommodate older adults, tools for inclusive enrollment of older adults) to provide a guide to the development of the semi-structured interviews and to help facilitate the research process such as the set-up of interviews.

Users´ perspectives and preferences on using wearables in epilepsy: A critical review.

Seizure detection devices (SDDs) offer promising technological advancements in epilepsy management, providing real-time seizure monitoring and alerts for patients and caregivers. This critical review explores user perspectives and experiences with SDDs to better understand factors influencing their adoption and sustained use. An electronic literature search identified 34 relevant studies addressing common themes such as usability, motivation, comfort, accuracy, barriers, and the financial burden of these devices.

Is there a simple and accessible solution to improve acute infarct core imaging? The utility of steady-state CT angiographic source images obtained from a delayed phase acquisition.

Background: Early identification and quantification of core infarct is of importance in stroke management for treatment selection, prognostication, and complication prediction. Non-contrast computed tomography (CT) (NCCT) remains the primary tool, but it suffers from limited sensitivity and inter-rater variability; CT perfusion is inconsistently available and commonly blighted by movement artefact. We assessed the performance of a standardised form of CT angiographic source imaging (CTASI) obtained through addition of a delayed phase at 40 seconds post-contrast injection (DP40) following fast-acquisition CT angiography.

Multi-disciplinary research will be the key to stop, restore, and end MS.

The past 25 years have brought extraordinary advances in our understanding of MS pathogenesis and the subsequent development of effective therapies. Collaborative genetics efforts have uncovered the association of 236 common DNA variants with disease susceptibility and the first association with disease severity, paving the way to more effective therapies, particularly for progressive forms of the disease. In parallel, and in addition to established environmental disease triggers or modifiers, new collaborative work has revealed new associations with components of the gut microbiome.

Extracting Housing and Food Insecurity Information From Clinical Notes Using cTAKES.

Objective: To assess the utility and challenges of using natural language processing (NLP) in electronic health records (EHRs) to ascertain health-related social needs (HRSNs) among older adults.

Study Setting And Design: We extracted HRSN information using the NLP system Clinical Text Analysis and Knowledge Extraction System (cTAKES), combined with Concept Unique Identifiers and Systematized Nomenclature for Medicine codes. We validated cTAKES performance, via manual chart review, on two HRSNs: food insecurity, which was included in the healthcare system's HRSN screening tool, and housing insecurity, which was not.

Exploring the progress and trends of immunotherapy for type 1 diabetes: A comprehensive bibliometric analysis spanning nearly two decades.

Introduction: Immunotherapy is a crucial treatment for type 1 diabetes (T1D), yet analyses focusing on research priorities and trends in this field are limited. Therefore, this study employs bibliometric methods to systematically explore the current research status of immunotherapy for T1D.

Methods: Based on the Web of Science Core Collection Database, 1573 articles and review articles related to immunotherapy for T1D published from 2004 to 2023 were screened for bibliometric analysis.

Nanoparticles modified with glucose analogs to enhance the permeability of the blood-brain barrier and their accumulation in the epileptic brain.

Drug delivery for epilepsy treatment faces enormous challenges, where the sole focus on enhancing the ability of drugs to penetrate the blood-brain barrier (BBB) through ligand modification is insufficient because of the absence of seizure-specific drug accumulation. In this study, an amphipathic drug carrier with a glucose transporter (GLUT)-targeting capability was synthesised by conjugating 2-deoxy-2-amino-D-glucose (2-DG) to the model carrier DSPE-PEG. A 2-DG-modified nano drug delivery system (NDDS) possessing robust stability and favourable biocompatibility was then fabricated using the nanoprecipitation method.

Risk factors affecting the therapeutic effect of onabotulinum toxin a on chronic migraine.

Background: OnabotulinumtoxinA demonstrates effectiveness in chronic migraine prevention but is hindered by variable patient responses. This study aims to identify modifiable and non-modifiable risk factors influencing the response to onabotulinumtoxinA.

Methods: We conducted a retrospective cohort study at a tertiary hospital involving chronic migraine patients treated with onabotulinumtoxinA.

Stereoelectroencephalographic exploration and surgical outcome in Lennox-Gastaut syndrome.

Objective: Lennox-Gastaut syndrome (LGS) is typically characterized by drug-resistant epilepsy and subsequent cognitive deterioration. Surgery is a rare but viable option for the control of seizures in a subset of patients with LGS. This study aimed to describe the organization of the epileptogenic zone network (EZN) in patients with LGS using stereoelectroencephalography (SEEG) and to report the outcome of post-SEEG treatment.

Evaluating Computerised Assessment of Motor Imitation (CAMI) for identifying autism-specific difficulties not observed for attention-deficit hyperactivity disorder or neurotypical development.

Background: Reliable and specific biomarkers that can distinguish autism spectrum disorders (ASDs) from commonly co-occurring attention-deficit/hyperactivity disorder (ADHD) are lacking, causing misses and delays in diagnosis, and reducing access to interventions and quality of life.

Aims: To examine whether an innovative, brief (1-min), videogame method called Computerised Assessment of Motor Imitation (CAMI), can identify ASD-specific imitation differences compared with neurotypical children and children with ADHD.

Method: This cross-sectional study used CAMI alongside standardised parent-report (Social Responsiveness Scale, Second Edition) and observational measures of autism (Autism Diagnostic Observation Schedule-Second Edition; ADOS-2), ADHD (Conners) and motor ability (Physical and Neurological Examination for Soft Signs).

Effectiveness of emotion-focused therapy: Main results of a practice-research network study.

Background: Emotion-Focused Therapy is one of the evidence-based psychotherapies for a range of psychological problems. While most evidence was gained from randomized controlled studies or process research at university settings, there is a need for more outcome research conducted within practitioner-researcher networks assessing the effectiveness of Emotion-Focused Therapy in private practice.

Methods: A total of  = 70 clients with a variety of psychiatric disorders have been included in the bi-national practitioner researcher network for Emotion-focused Therapy Switzerland-Germany.