A new antioxidant lipid (AL) was synthesized from rainbow trout () belly oil and cold-pressed maqui (CPM) ( (Mol.) Stuntz) seed oil via enzymatic interesterification using in supercritical CO medium. A Box-Behnken design with 15 experiments was employed, with the independent variables being the following: belly oil/CPM oil ratio (10/90, 50/50, and 90/10, /), supercritical CO temperature (40.
View Article and Find Full Text PDFNeuromuscular disorders (NMD) with neonatal or early infantile onset are usually severe and differ in symptoms, complications, and treatment options. The establishment of a diagnosis relies on the combination of clinical examination, morphological analyses of muscle biopsies, and genetic investigations. Here, we re-evaluated and classified a unique collection of 535 muscle biopsies from NMD infants aged 0-6 months examined over a period of 52 years.
View Article and Find Full Text PDFJ Neurol Neurosurg Psychiatry
October 2024
Background: Myosin heavy chain 7 ()-related myopathies (-RMs) are a group of muscle disorders linked to pathogenic variants in the gene, encoding the slow/beta-cardiac myosin heavy chain, which is highly expressed in skeletal muscle and heart. The phenotype is heterogeneous including distal, predominantly axial or scapuloperoneal myopathies with variable cardiac involvement.
Methods: We retrospectively analysed the clinical, muscle MRI, genetic and myopathological features of 57 patients.