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C19orf12 gene variants causing mitochondrial membrane protein-associated neurodegeneration (MPAN).
Eur J Hum Genet
January 2025
Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurodegenerative disorder characterized by spastic paraplegia, parkinsonism and psychiatric and/or behavioral symptoms caused by variants in gene encoding chromosome-19 open reading frame-12 (C19orf12). We present here seven patients from six unrelated families with detailed clinical, radiological, and genetic investigations. Childhood-onset patients predominantly had a spastic ataxic phenotype with optic atrophy, while adult-onset patients were presented with cognitive, behavioral, and parkinsonian symptoms.
View Article and Find Full Text PDFConcurrent myasthenia gravis and neuromyelitis optica spectrum disorder: a rare intersection of autoimmune pathologies.
BMJ Case Rep
January 2025
Department of Neurology, Ministry of Health Sakarya Education and Research Hospital, Adapazari, Sakarya, Turkey.
This case report describes a woman in her 50s with a rare coexistence of neuromyelitis optica spectrum disorder (NMOSD) and myasthenia gravis (MG), highlighting the diagnostic challenges and therapeutic considerations. Initially diagnosed with acetylcholine receptor antibody-positive MG, she later developed progressive visual impairment, leading to a diagnosis of NMOSD. Rituximab treatment was effective in managing both conditions, demonstrating the benefits of targeted therapies in reducing complications related to polypharmacy.
View Article and Find Full Text PDFLocal structural-functional coupling with counterfactual explanations for epilepsy prediction.
Neuroimage
January 2025
College of Artificial Intelligence, Nanjing University of Aeronautics and Astronautics, Nanjing, 210016, China; Shenzhen Research Institute, Nanjing University of Aeronautics and Astronautics, Shenzhen, 518038, China; Key Laboratory of Brain-Machine Intelligence Technology, Ministry of Education, Nanjing, 210016, China. Electronic address:
The structural-functional brain connections coupling (SC-FC coupling) describes the relationship between white matter structural connections and the corresponding functional activation or functional connections. It has been widely used to identify brain disorders. However, the existing research on SC-FC coupling focuses on global and regional scales, and few studies have investigated the impact of brain disorders on this relationship from the perspective of multi-brain region cooperation (i.
View Article and Find Full Text PDFConvolutional Neural Networks for the segmentation of hippocampal structures in postmortem MRI scans.
J Neurosci Methods
January 2025
Neuroimage Analytics Laboratory and Biggs Institute Neuroimaging Core, Glenn Biggs Institute for Neurodegenerative Disorders, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA; Research Imaging Institute, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA. Electronic address:
Background: The hippocampus plays a crucial role in memory and is one of the first structures affected by Alzheimer's disease. Postmortem MRI offers a way to quantify the alterations by measuring the atrophy of the inner structures of the hippocampus. Unfortunately, the manual segmentation of hippocampal subregions required to carry out these measures is very time-consuming.
View Article and Find Full Text PDFAnalyzing the TotalSegmentator for facial feature removal in head CT scans.
Radiography (Lond)
January 2025
Department of Radiology, Charité Universitätsmedizin Berlin, Berlin, Germany; Berlin Institute of Health, Berlin, Germany.
Background: Facial recognition technology in medical imaging, particularly with head scans, poses privacy risks due to identifiable facial features. This study evaluates the use of facial recognition software in identifying facial features from head CT scans and explores a defacing pipeline using TotalSegmentator to reduce re-identification risks while preserving data integrity for research.
Methods: 1404 high-quality renderings from the UCLH EIT Stroke dataset, both with and without defacing were analysed.
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