Shape Analysis for Pediatric Upper Body Motor Function Assessment [PDF]
arXiv, 2022 Neuromuscular disorders, such as Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD), cause progressive muscular degeneration and loss of motor function for 1 in 6,000 children. Traditional upper limb motor function assessments do not quantitatively measure patient-performed motions, which makes it difficult to track progress for ...
arxiv
Three-Dimensional Human iPSC-Derived Artificial Skeletal Muscles Model Muscular Dystrophies and Enable Multilineage Tissue Engineering [PDF]
, 2018 Summary: Generating human skeletal muscle models is instrumental for investigating muscle pathology and therapy. Here, we report the generation of three-dimensional (3D) artificial skeletal muscle tissue from human pluripotent stem cells, including ...
Cappellari, O +21 more
core +5 more sources
Surprising genotype expressed as a common limb-girdle muscular dystrophy [PDF]
Romanian Journal of Neurology, 2017 Limb-girdle muscular dystrophies (LGMDs) comprise a phenotypical spectrum of muscular dystrophies with a high degree of genotypical variability. We describe the case of a 56-year-old male with a history and clinical picture suggestive for LGMD with ...
Liviu Cozma +4 more
doaj +1 more source
Gait Characterization in Duchenne Muscular Dystrophy (DMD) Using a Single-Sensor Accelerometer: Classical Machine Learning and Deep Learning Approaches [PDF]
arXiv, 2021 Differences in gait patterns of children with Duchenne muscular dystrophy (DMD) and typically-developing (TD) peers are visible to the eye, but quantifications of those differences outside of the gait laboratory have been elusive. In this work, we measured vertical, mediolateral, and anteroposterior acceleration using a waist-worn iPhone accelerometer ...
arxiv
Beyond MeSH: Fine-Grained Semantic Indexing of Biomedical Literature based on Weak Supervision [PDF]
Information Processing and Management 57 (2020) 102282, 2020 In this work, we propose a method for the automated refinement of subject annotations in biomedical literature at the level of concepts. Semantic indexing and search of biomedical articles in MEDLINE/PubMed are based on semantic subject annotations with MeSH descriptors that may correspond to several related but distinct biomedical concepts.
arxiv +1 more source
Fortnightly review: The muscular dystrophies
BMJ, 1998 The muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable distribution and severity. They can be subdivided into several groups, including congenital forms, in accordance with the distribution of predominant muscle weakness: Duchenne and Becker; Emery-Dreifuss; distal ...
openaire +6 more sources
Automatic Segmentation of Muscle Tissue and Inter-muscular Fat in Thigh and Calf MRI Images [PDF]
, 2019 Magnetic resonance imaging (MRI) of thigh and calf muscles is one of the most effective techniques for estimating fat infiltration into muscular dystrophies. The infiltration of adipose tissue into the diseased muscle region varies in its severity across, and within, patients.
arxiv +1 more source
Facioscapulohumeral muscular dystrophy
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2015 Facioscapulohumeral muscular dystrophy (FSHD) is characterized by a typical and asymmetric pattern of muscle involvement and disease progression. Two forms of FSHD, FSHD1 and FSHD2, have been identified displaying identical clinical phenotype but different genetic and epigenetic basis.
Sacconi, Sabrina +2 more
openaire +6 more sources
The myokine GDF-15 is a potential biomarker for myositis and associates with the protein aggregates of sporadic inclusion body myositis. [PDF]
, 2020 Background: The cytokine growth differentiation factor-15 (GDF-15) has been associated with inflammatory and mitochondrial disease, warranting exploration of its expression in myositis patients.
De Bleecker, Jan +2 more
core +2 more sources
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Annals of Clinical and Translational Neurology, EarlyView.Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao +34 more
wiley +1 more source