Publications by authors named "J M Provenzale"
Article Synopsis
- The study focuses on severe central nervous system (CNS) manifestations, such as seizures and encephalopathy, in six children with infantile-onset Pompe disease (IOPD), which typically is treated with enzyme replacement therapy (ERT) that does not affect the brain.
- All six patients, treated with ERT for 12-15 years, showed significant white matter hyperintensities (WMHI) on MRI scans, which occurred before the onset of neurological symptoms, with seizure onset at a median age of 11.9 years.
- The findings indicate a need for further research into CNS-related issues in IOPD, as cognitive evaluations suggest developmental plateaus and there may be a link between CNS symptoms and WMHI
This manuscript addresses the issue of the need for improvement of the work culture in Radiology departments. The manuscript uses advice from the famous college basketball coach John Wooden to highlight the issues involved in the work culture environment in Radiology and to provide suggestions for improvement.
View Article and Find Full Text PDFInfantile Krabbe disease (IKD) can be treated with hematopoietic cell transplantation (HCT) if done during the first weeks of life before symptoms develop. To facilitate this, newborn screening (NBS) has been instituted in 8 US states. An application to add IKD to the recommended NBS panel is currently under review.
View Article and Find Full Text PDFObjective: To characterize the extent of CNS involvement in children with Pompe disease using brain MRI and developmental assessments.
Methods: The study included 14 children (ages 6-18 years) with infantile Pompe disease (IPD) (n = 12) or late-onset Pompe disease (LOPD) (n = 2) receiving enzyme replacement therapy. White matter (WM) hyperintense foci seen in the brain MRIs were systematically quantified using the Fazekas scale (FS) grading system with a novel approach: the individual FS scores from 10 anatomical areas were summed to yield a total FS score (range absent [0] to severe [30]) for each child.