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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 PDFCerebral Microbleeds and Amyloid Pathology Estimates From the Amyloid Biomarker Study.
JAMA Netw Open
January 2025
Alzheimer Center Limburg, Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience, Maastricht University, Maastricht, the Netherlands.
Importance: Baseline cerebral microbleeds (CMBs) and APOE ε4 allele copy number are important risk factors for amyloid-related imaging abnormalities in patients with Alzheimer disease (AD) receiving therapies to lower amyloid-β plaque levels.
Objective: To provide prevalence estimates of any, no more than 4, or fewer than 2 CMBs in association with amyloid status, APOE ε4 copy number, and age.
Design, Setting, And Participants: This cross-sectional study used data included in the Amyloid Biomarker Study data pooling initiative (January 1, 2012, to the present [data collection is ongoing]).
Depressive Symptoms and Amyloid Pathology.
JAMA Psychiatry
January 2025
Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.
Importance: Depressive symptoms are associated with cognitive decline in older individuals. Uncertainty about underlying mechanisms hampers diagnostic and therapeutic efforts. This large-scale study aimed to elucidate the association between depressive symptoms and amyloid pathology.
View Article and Find Full Text PDFDoes Cerebrospinal Fluid Leak in Pituitary Surgery Affect Patient Reported Quality of Life?
Laryngoscope
January 2025
Department of Otolaryngology- Head & Neck Surgery, University of Western Ontario, London, Ontario, Canada.
Background: Endoscopic techniques allow for improved visualization and tumor debulking of pituitary adenomas. More thorough tumor resection, however, can be associated with higher rates of CSF leaks. We set out to determine if CSF leaks influenced patient perceived quality of life outcomes.
View Article and Find Full Text PDFAim: Successful deep brain stimulation (DBS) requires precise electrode placement. However, brain shift from loss of cerebrospinal fluid or pneumocephalus still affects aim accuracy. Multidetector computed tomography (MDCT) provides absolute spatial sensitivity, and intraoperative cone-beam computed tomography (iCBCT) has become increasingly used in DBS procedures.
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