Publications by authors named "Alexis B Maddocks"

Article Synopsis
  • Pediatric brain and spinal cord tumors are a significant health concern, being the second most common cancer in children, and current imaging methods have long acquisition times that hinder timely diagnosis.
  • This study explores the use of tailored magnetic resonance fingerprinting (TMRF) to quickly produce both quantitative relaxometric maps and qualitative images in pediatric patients with brain tumors.
  • Results showed significant differences in tissue types and a strong correlation between TMRF images and standard imaging methods, suggesting TMRF could streamline imaging protocols while saving time.
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New-onset psychosis in the pediatric population poses many diagnostic challenges. Given the diversity of underlying causes, which fall under the purview of multiple medical specialties, a timely, targeted, yet thorough workup requires a systematic and coordinated approach. A committee of expert pediatric physicians from the divisions of emergency medicine, psychiatry, neurology, hospitalist medicine, and radiology convened to create and implement a novel clinical pathway and approach to the pediatric patient presenting with new-onset psychosis.

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Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesis, are associated with intellectual disability, but the pathogenic mechanism remains obscure. Here, we characterize 31 individuals with de novo missense variants in CERT1.

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Objective: One of the clinical hallmarks of tuberous sclerosis complex (TSC) is radiologically identified cortical tubers, which are present in most patients. Intractable epilepsy may require surgery, often involving invasive diagnostic procedures such as intracranial electroencephalography (EEG). Identifying the location of the dominant tuber responsible for generating epileptic activities is a critical issue.

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