Self-Supervised CSF Inpainting with Synthetic Atrophy for Improved Accuracy Validation of Cortical Surface Analyses [PDF]
arXiv, 2023 Accuracy validation of cortical thickness measurement is a difficult problem due to the lack of ground truth data. To address this need, many methods have been developed to synthetically induce gray matter (GM) atrophy in an MRI via deformable registration, creating a set of images with known changes in cortical thickness.
arxiv
Noninvasive optical estimation of CSF thickness for brain-atrophy monitoring [PDF]
Biomedical Optics Express 9 (2018) 4094-4112, 2018 Dementia disorders are increasingly becoming sources of a broad range of problems, strongly interfering with normal daily tasks of a growing number of individuals. Such neurodegenerative diseases are often accompanied with progressive brain atrophy that, at late stages, leads to drastically reduced brain dimensions.
arxiv +1 more source
Effect of the Butyrate Prodrug Pivaloyloxymethyl Butyrate (AN9) on a Mouse Model for Spinal Muscular Atrophy. [PDF]
, 2016 Spinal muscular atrophy (SMA) is an early-onset motor neuron disease that leads to loss of muscle function. Butyrate (BA)-based compounds markedly improve the survival and motor phenotype of SMA mice.
Butchbach, Matthew E.R. +1 more
core +2 more sources
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Annals of Clinical and Translational Neurology, EarlyView.Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs +8 more
wiley +1 more source
Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR) [PDF]
, 2015 The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients.
BNMDR Scientific Committee, the +7 more
core +2 more sources
Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron +3 more
wiley +1 more source
Association between muscular atrophy and mortality risk in patients with COPD: a systematic review
Therapeutic Advances in Respiratory DiseaseBackground: Muscular atrophy often can be seen at the end of stage in many chronic diseases. It will also negatively influence patients’ outcomes. Different studies showed that the association between muscular atrophy and mortality in patients with ...
Wenyan Li +7 more
doaj +1 more source
International Journal of Food Properties, 2022 Muscle atrophy is a degenerative condition characterized by secondary inflammation, free radical injury, and metabolic dysregulation. Evidence regarding the effects of quercetin on skeletal muscle atrophy is currently controversial and unclear.
Weiqun Lin +4 more
doaj +1 more source
AVRA: Automatic Visual Ratings of Atrophy from MRI images using Recurrent Convolutional Neural Networks [PDF]
, 2018 Quantifying the degree of atrophy is done clinically by neuroradiologists following established visual rating scales. For these assessments to be reliable the rater requires substantial training and experience, and even then the rating agreement between two radiologists is not perfect. We have developed a model we call AVRA (Automatic Visual Ratings of
arxiv +1 more source
Cerebello‐Prefrontal Connectivity Underlying Cognitive Dysfunction in Spinocerebellar Ataxia Type 2
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinocerebellar ataxia type 2 (SCA2) is a hereditary cerebellar degenerative disorder, with motor and cognitive symptoms. The constellation of cognitive symptoms due to cerebellar degeneration is named cerebellar cognitive affective syndrome (CCAS), which has increasingly been recognized to profoundly impact patients' quality of life;
Ami Kumar +7 more
wiley +1 more source