A5078212713- Peroxisome Proliferator-Activated Receptors
- Metabolism and Genetic Disorders
- Epilepsy research and treatment
- Neuroinflammation and Neurodegeneration Mechanisms
- Glioma Diagnosis and Treatment
- Lysosomal Storage Disorders Research
- Pharmacological Effects and Toxicity Studies
- Transcranial Magnetic Stimulation Studies
- Genetic and rare skin diseases.
- Neural and Behavioral Psychology Studies
- Complementary and Alternative Medicine Studies
- Cardiomyopathy and Myosin Studies
- Fetal and Pediatric Neurological Disorders
- Mitochondrial Function and Pathology
- Psychosomatic Disorders and Their Treatments
- Cellular transport and secretion
- Protein Tyrosine Phosphatases
- Diet and metabolism studies
- Adipose Tissue and Metabolism
- Functional Brain Connectivity Studies
- Genetics and Neurodevelopmental Disorders
- Neonatal and fetal brain pathology
- EEG and Brain-Computer Interfaces
- Glycogen Storage Diseases and Myoclonus
- Neurological disorders and treatments
Duke Children's Hospital & Health Center
2024
Duke Medical Center
2023-2024
Duke University Hospital
2024
Duke University
2022-2023
University of Minnesota Medical Center
2019-2022
University of Minnesota System
2021-2022
John Wiley & Sons (United States)
2022
Hudson Institute
2022
University of Minnesota
2018-2021
Minot State University
2021
Febrile infection-related epilepsy syndrome (FIRES) is a devastating epileptic encephalopathy with limited treatment options and an unclear etiology. Anakinra recombinant version of the human interleukin-1 receptor antagonist used to treat autoinflammatory disorders. This first report anakinra for child super-refractory status epilepticus secondary FIRES. was well tolerated effective. Cerebral spinal fluid analysis revealed elevated levels proinflammatory cytokines before that normalized on...
To assess the variation in baseline and seizure onset zone interictal high-frequency oscillation (HFO) rates amplitudes across different anatomic brain regions a large cohort of patients.
Abstract Minnesota became the fourth state to begin newborn screening (NBS) for X‐linked adrenoleukodystrophy (X‐ALD) in 2017. As there is limited retrospective data available on NBS X‐ALD, we analyzed Minnesota's results from first year of screening. C26:0 lysophosphatidylcholine (C26:0‐LPC) 67,836 infants and confirmatory testing ( ABCD1 gene serum VLCFA analysis) screen positives were obtained. Fourteen (nine males, five females) screened positive X‐ALD all subsequently confirmed have...
PurposeDysregulation of RAS or its major effector pathway is the molecular mechanism RASopathies, a group multisystemic congenital disorders. Neurologic complications are especially challenging in management rare RASopathy cardiofaciocutaneous (CFC) syndrome. This study evaluated clinical neurologic and neurodevelopmental features their associations with CFC syndrome gene variants.MethodsA multinational cohort 138 individuals (BRAF = 90, MAP2K1 36, MAP2K2 10, KRAS 2) was recruited....
Abstract Background Colony‐stimulating factor‐1 receptor ( CSF1R )‐related leukoencephalopathy is a rapidly progressive neurodegenerative disease for which there currently no cure. Hematopoietic stem cell transplantation (HSCT) has been proposed as disease‐modifying treatment. Objective The objective of this study was to determine the effect HSCT on progression. Methods We collected all available clinical data from cohort 7 patients with ‐related who underwent at our institutions. Clinical...
Background: We compared resting-state functional connectivity (RSFC) among limbic and temporal lobe regions between patients with medial epilepsy (mTLE) healthy control subjects to identify imaging evidence of networks related seizure frequency, age onset, duration epilepsy. Methods: Twelve drug-resistant, unilateral twelve matched for age, sex, handedness participated in the experiments. used network-based statistics compare graphs mTLE controls investigate relationship abnormalites...
Gaucher disease (GD) type 3 is an autosomal recessive lysosomal caused by deficiency of β-glucocerebrosidase (GCase) and encompasses a spectrum cardiac, neurological, ophthalmological abnormalities. Although the clinical presentations can be diverse, recognized trajectory points to early onset, predominantly before 18 years. GD 3c primarily homozygosity for
To quantify benchmark treatment outcomes that may be enabled by newborn screening surveillance for X-linked adrenoleukodystrophy (ALD), we report neurocognitive, neuropsychiatric, and MRI change boys who underwent hematopoietic stem cell transplant (HSCT) at initial stages of demyelination, prior to neurocognitive signs disease.Retrospective chart review identified 36 patients whose cerebral ALD was detected treated early, with lesion severity less than 5 on the ALD-specific scoring system....
Abstract Objective To rigorously compare automated atlas‐based and manual tracing hippocampal segmentation for accuracy, repeatability, clinical acceptability given a relevant range of imaging abnormalities in epilepsy. Methods Forty‐nine patients with asymmetry were identified from our institutional radiology database, including two significant anatomic deformations. Manual was performed by experienced technologists on 3T MPRAGE images, measuring volume up to the tectal plate, excluding...
In the most common variant of childhood cerebral adrenoleukodystrophy (cALD), demyelinating brain lesions are distributed predominately in parieto-occipital white matter. Less frequently, first develop frontal This matched cohort study examined whether outcomes after standard treatment with hematopoietic cell transplantation (HCT) differ patients early stage as compared to lesions. Retrospective chart review identified seven pediatric cALD and MRI severity score < 10 who underwent a single...
Gene variants that dysregulate signaling through the RAS-MAPK pathway cause cardiofaciocutaneous syndrome (CFCS), a rare multi-system disorder. Infantile epileptic spasms (IESS) and other forms of epilepsy are among most serious complications. To investigate clinical presentation, treatment outcomes, genotype-phenotype associations in CFCS patients with IESS, molecular genetics neurological history were reviewed across two large research cohorts (n = 180). IESS presented 18/180 (10%) cases,...
A 74-year-old woman with Parkinson disease was admitted to the hospital for evaluation of dizziness and falls. She had undergone bilateral subthalamic nucleus (STN) implantation a deep brain stimulator (DBS) 4 years prior presentation (Activa PC Neurostimulator, model 37601, Medtronic, Minneapolis, MN). Symptoms resulting from including rigidity tremor were reasonably controlled STN DBS in addition carbidopa-levodopa 25–100 mg every 2 hours while awake extended release at bedtime. On...
A 58-year-old man presented with daily hour-long spells of hypothermia, hyperhidrosis, and hypotension. Results laboratory studies, including thyroid-stimulating hormone, free thyroxine, total/bioavailable testosterone, morning cortisol, urine osmolality, were normal. MRI the brain
edited by Jean-Marie Saudubray, Georges van den Berghe, and John H. Walter, 684 pp., Springer, 2012, $209 In the 110 years since Sir Archibald Garrod described alkaptonuria, there has been an explosion in our knowledge of metabolic pathways their derangements. more recent times, pace discovery quickened exponentially with advances laboratory science bioinformatics. For those us who must sift through this embarrassment riches for tools to diagnose treat patients, thicket syndromes, enzymes,...