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REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and Structural Modeling of One Index Case.
Genet Test Mol Biomarkers
January 2025
PTC Therapeutics Germany GmbH, Frankfurt, Germany.
The main objective of this prospective, multicenter study (REVEAL-CP) was to test children with cerebral palsy-like signs and symptoms for raised 3--methyldopa (3-OMD) blood levels, a biomarker for aromatic L-amino acid decarboxylase deficiency (AADCd). A secondary objective was to characterize the molecular basis for the defective aromatic L-amino acid decarboxylase (AADC) gene product. Patients were identified in pediatric secondary and tertiary care hospitals through database searches and personal communication.
View Article and Find Full Text PDFGsMTx-4 combined with exercise improves skeletal muscle structure and motor function in rats with spinal cord injury.
PLoS One
January 2025
School of Sport Medicine and Rehabilitation, Beijing Sport University, Beijing, China.
Motor dysfunction and muscle atrophy are typical symptoms of patients with spinal cord injury (SCI). Exercise training is a conventional physical therapy after SCI, but exercise intervention alone may have limited efficacy in reducing secondary injury and promoting nerve regeneration and functional remodeling. Our previous research found that intramedullary pressure after SCI is one of the key factors affecting functional prognosis.
View Article and Find Full Text PDFTraumatic brain injury causes early aggregation of beta-amyloid peptides and NOTCH3 reduction in vascular smooth muscle cells of leptomeningeal arteries.
Acta Neuropathol
January 2025
Department of Clinical Sciences, Lund Brain Injury Laboratory for Neurosurgical Research, Lund University, 222 20, Lund, Sweden.
Traumatic brain injury (TBI) often leads to impaired regulation of cerebral blood flow, which may be caused by pathological changes of the vascular smooth muscle cells (VSMCs) in the arterial wall. Moreover, these cerebrovascular changes may contribute to the development of various neurodegenerative disorders such as Alzheimer's-like pathologies that include amyloid beta aggregation. Despite its importance, the pathophysiological mechanisms responsible for VSMC dysfunction after TBI have rarely been evaluated.
View Article and Find Full Text PDFIsolated metastasis of the bowel from undifferentiated thyroid carcinoma. A case report and a literature review.
Int J Colorectal Dis
January 2025
General Surgery, Cannizzaro Hospital, Catania, Italy.
In this article, we aim to demonstrate that thyroid carcinoma can metastasize to the small bowel. This case report involves a 66-year-old woman who underwent total thyroidectomy surgery in 2019, with histopathology revealing a 3A undifferentiated thyroid cancer. She presented with symptoms of bowel obstruction, including abdominal pain, nausea, and vomiting.
View Article and Find Full Text PDFThe development of a screener for Cerebral Visual Impairment.
Appl Neuropsychol Child
January 2025
Luxembourg Centre for Educational Testing (LUCET), Faculty of Humanities, Education and Social Sciences, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
This study explored the secondary use of Luxembourg's school monitoring tool for a large-scale screening of Cerebral Visual Impairment (CVI)-related difficulties. 44 items, with and without time constraint, were developed, and pretested among 959 children. All children subsequently participated in an individual evaluation of higher-level visual processing (HLVP) measures related with CVI.
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