Faculty Bibliography
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Department/Unit:Neurology
Total Results:
24318
Researching COVID to enhance recovery (RECOVER) pediatric study protocol: Rationale, objectives and design
IMPORTANCE/UNASSIGNED:The prevalence, pathophysiology, and long-term outcomes of COVID-19 (post-acute sequelae of SARS-CoV-2 [PASC] or "Long COVID") in children and young adults remain unknown. Studies must address the urgent need to define PASC, its mechanisms, and potential treatment targets in children and young adults. OBSERVATIONS/UNASSIGNED:cohort incorporates three tiers of data collection: 1) remote baseline assessments (Tier 1, n=6000); 2) longitudinal follow-up for up to 4 years (Tier 2, n=6000); and 3) a subset of participants, primarily the most severely affected by PASC, who will undergo deep phenotyping to explore PASC pathophysiology (Tier 3, n=600). Youth enrolled in the ABCD study participate in Tier 1. The pediatric protocol was developed as a collaborative partnership of investigators, patients, researchers, clinicians, community partners, and federal partners, intentionally promoting inclusivity and diversity. The protocol is adaptive to facilitate responses to emerging science. CONCLUSIONS AND RELEVANCE/UNASSIGNED:RECOVER-Pediatrics seeks to characterize the clinical course, underlying mechanisms, and long-term effects of PASC from birth through 25 years old. RECOVER-Pediatrics is designed to elucidate the epidemiology, four-year clinical course, and sociodemographic correlates of pediatric PASC. The data and biosamples will allow examination of mechanistic hypotheses and biomarkers, thus providing insights into potential therapeutic interventions. CLINICAL TRIALSGOV IDENTIFIER/UNASSIGNED:Clinical Trial Registration: http://www.clinicaltrials.gov . Unique identifier: NCT05172011.
PMID: 37214806
CID: 5770522
CDKN2A/B mutations and allele-specific alterations stratify survival outcomes in IDH-mutant astrocytomas
PMCID:10628020
PMID: 37831210
ISSN: 1432-0533
CID: 5770572
Cerebrospinal fluid: A unique source of circulating tumor DNA with broad clinical applications
Malignancies involving the central nervous system present unique challenges for diagnosis and monitoring due to the difficulties and risks of direct biopsies and the low specificity and/or sensitivity of other techniques for assessment. In recent years, liquid biopsy of the cerebrospinal fluid (CSF) has emerged as a convenient alternative that combines minimal invasiveness with the ability to detect disease-defining or therapeutically actionable genetic alterations from circulating tumor DNA (ctDNA). Since CSF can be obtained by lumbar puncture, or an established ventricular access device at multiple time points, ctDNA analysis enables initial molecular characterization and longitudinal monitoring throughout a patient's disease course, promoting optimization of treatment regimens. This review outlines some of the key aspects of ctDNA from CSF as a highly suitable approach for clinical assessment, the benefits and drawbacks, testing methods, as well as potential future advancements in this field. We anticipate wider adoption of this practice as technologies and pipelines improve and envisage significant improvements for cancer care.
PMCID:10205485
PMID: 37196447
ISSN: 1936-5233
CID: 5770512
A Comparison of Phenotypic and Genotypic Features in Identical Twins with Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like Episodes (MELAS) (P11-4.007) [Case Report]
ORIGINAL:0017479
ISSN: 0028-3878
CID: 5759142
MRI Features and Their Association With Outcomes in Children With Anti-NMDA Receptor Encephalitis
OBJECTIVES:How brain MRI lesions associate with outcomes in pediatric anti-NMDA receptor encephalitis (pNMDARE) is unknown. In this study, we correlate T2-hyperintense MRI brain lesions with clinical outcomes in pNMDARE. METHODS:This was a multicenter retrospective cohort study from 11 institutions. Children younger than 18 years with pNMDARE were included. One-year outcomes were assessed by the modified Rankin Score (mRS) with good (mRS ≤2) and poor (mRS ≥3) outcomes. RESULTS:A total of 175 pNMDARE subjects were included, with 1-year mRS available in 142/175 (81%) and 60/175 (34%) had abnormal brain MRIs. The most common T2-hyperintense lesion locations were frontal, temporal, and parietal. MRI features that predicted poor 1-year outcomes included abnormal MRI, particularly T2 lesions in the frontal and occipital lobes. After adjusting for treatment within 4 weeks of onset, improvement within 4 weeks, and intensive care unit admission, MRI features were no longer associated with poor outcomes, but after multiple imputation for missing data, T2 frontal and occipital lesions associated with poor outcomes. DISCUSSION:Abnormal frontal and occipital lesions on MRI may associate with 1-year mRS in pNMDARE. MRI of the brain may be a helpful prognostication tool that should be examined in future studies.
PMCID:10219134
PMID: 37236807
ISSN: 2332-7812
CID: 5757642
Miliary Tuberculosis with Mycobacterium bovis: A Silent Threat for In Vitro Fertilization Pregnancies [Case Report]
ORIGINAL:0017433
ISSN: 2573-8755
CID: 5750692
Behavioral Neurology and Neuropsychiatry in Consultation- Liaison Psychiatry
ISI:000992980600001
ISSN: 0048-5713
CID: 5750402
Editorial: Genetic advances and translational applications in movement disorders [Editorial]
PMID: 37799287
ISSN: 1664-2295
CID: 5735972
Author Correction: Generalizable deep learning model for early Alzheimer's disease detection from structural MRIs
PMID: 37783742
ISSN: 2045-2322
CID: 5735542
"What" and "when" predictions modulate auditory processing in a mutually congruent manner
INTRODUCTION/UNASSIGNED:Extracting regularities from ongoing stimulus streams to form predictions is crucial for adaptive behavior. Such regularities exist in terms of the content of the stimuli and their timing, both of which are known to interactively modulate sensory processing. In real-world stimulus streams such as music, regularities can occur at multiple levels, both in terms of contents (e.g., predictions relating to individual notes vs. their more complex groups) and timing (e.g., pertaining to timing between intervals vs. the overall beat of a musical phrase). However, it is unknown whether the brain integrates predictions in a manner that is mutually congruent (e.g., if "beat" timing predictions selectively interact with "what" predictions falling on pulses which define the beat), and whether integrating predictions in different timing conditions relies on dissociable neural correlates. METHODS/UNASSIGNED:= 20) performing a repetition detection task. RESULTS/UNASSIGNED:Our results reveal that temporal predictions based on beat or interval timing modulated mismatch responses to violations of "what" predictions happening at the predicted time points, and that these modulations were shared between types of temporal predictions in terms of the spatiotemporal distribution of EEG signals. Effective connectivity analysis using dynamic causal modeling showed that the integration of "what" and "when" predictions selectively increased connectivity at relatively late cortical processing stages, between the superior temporal gyrus and the fronto-parietal network. DISCUSSION/UNASSIGNED:Taken together, these results suggest that the brain integrates different predictions with a high degree of mutual congruence, but in a shared and distributed cortical network. This finding contrasts with recent studies indicating separable mechanisms for beat-based and memory-based predictive processing.
PMCID:10540699
PMID: 37781257
ISSN: 1662-4548
CID: 5735472
