Imaging Brain Glucose Metabolism In Vivo Reveals Propionate as a Major Anaplerotic Substrate in Pyruvate Dehydrogenase Deficiency

Medicine, Basic Medical Sciences, Neurology, Medical Imaging, Life Sciences, Biochemistry,
Brain Glucose Metabolism   Pyruvate Dehydrogenase Deficiency   Propionate   Imaging Phenotype   Ketogenic Diet  

Imaging Study of Brain Glucose Metabolism in Patients with Pyruvate Dehydrogenase Deficiency Background In modern mitochondrial medicine, evaluating the spectrum of brain diseases has been a limiting challenge. This limitation hinders our ability to understand the mechanisms behind the imaging phenotypes of the brains of mitochondrial disease patie...

White Matter Microstructural Changes Using Ultra-Strong Diffusion Gradient MRI in Adult-Onset Idiopathic Focal Cervical Dystonia

Medicine, Neurology, Medical Imaging,
white matter   microstructural   MRI   cervical dystonia   adult-onset   idiopathic focal  

Study Report on White Matter Microstructure Changes in Adult-Onset Idiopathic Focal Cervical Dystonia Patients Scientists are dedicated to studying Adult-Onset Idiopathic Focal Cervical Dystonia (AOIFCD), the most common type of idiopathic dystonia in adults. This condition primarily manifests as abnormal neck muscle postures, often accompanied by ...

Prehospital Lactate Levels Obtained in the Ambulance and Prediction of 2-Day In-Hospital Mortality in Patients with Traumatic Brain Injury

Medicine, Emergency Medicine, Medical Laboratory Science, Neurology, Medical Imaging,
prehospital lactate levels   traumatic brain injury   in-hospital mortality   Glasgow Coma Scale   emergency care  

Research Report Background Overview Traumatic Brain Injury (TBI) is one of the leading causes of permanent disability and death worldwide. These disorders are dynamic and evolving, involving progressive brain injury and pathophysiological changes accompanied by multi-system damage. The severity of TBI is typically assessed using the Glasgow Coma Sc...

Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency

Medicine, Pediatrics, Obstetrics and Gynecology, Neurology, Medical Imaging,
Pyruvate Dehydrogenase   Complex Deficiency   Fetal MRI   Brain Abnormalities   Genetic Disorder   Second Trimester Diagnosis  

Abnormalities in Fetal Brain MRI in Pyruvate Dehydrogenase Complex Deficiency Background and Research Objective Pyruvate Dehydrogenase Complex Deficiency (PDCD) is a mitochondrial metabolic disorder caused by pathogenic variants in multiple genes, including PDHA1. Classic neonatal brain imaging features have been described, mainly focusing on devel...

Associations of Microbleeds and Their Topography with Imaging and CSF Biomarkers of Alzheimer Pathology in Individuals with Down Syndrome

Medicine, Psychiatry, Geriatrics, Neurology, Medical Imaging,
Down Syndrome   Microbleeds   Alzheimer's Disease   Biomarkers   Imaging  

Alzheimer’s Disease (AD) and Microbleeds in Down Syndrome (DS) Populations: Their Localization and Association with Imaging and Cerebrospinal Fluid (CSF) Biomarkers This study was conducted by a team led by Sara E. Zsadanyi and Alejandra O. Morcillo-Nieto, with contributors including Mateus R. Aranha, José E. Arriola-Infante, Lídia Vaqué-Alcázar,...