Publications by authors named "P Spadafora"
Article Synopsis
- Pathogenic variants in the FKRP gene cause various muscular dystrophies, including Limb-Girdle Muscular Dystrophy type 9 (LGMDR9), which is notably prevalent in Italy.
- A study analyzed 153 patients from Southern Italy showing Duchenne/Becker-like symptoms, identifying pathogenic variants in 16 individuals, with specific variants frequently found.
- The findings emphasize the need to include LGMDR9 in the diagnosis of dystrophinopathies, aiming to improve the identification and management of affected patients in Calabria.
Neurodegenerative diseases are progressive disorders that affect the central nervous system (CNS) and represent the major cause of premature death in the elderly. One of the possible determinants of neurodegeneration is the change in mitochondrial function and content. Altered levels of mitochondrial DNA copy number (mtDNA-CN) in biological fluids have been reported during both the early stages and progression of the diseases.
View Article and Find Full Text PDFMitochondrial DNA (mtDNA) is a 16,569 base pairs, double-stranded, circular molecule that contains 37 genes coding for 13 subunits of the respiratory chain plus 2 rRNAs and 22 tRNAs. Mutations in these genes have been identified in patients with a variety of disorders affecting every system in the body. The advent of next generation sequencing technologies has provided the possibility to perform the whole mitochondrial DNA sequencing, allowing the identification of disease-causing pathogenic variants in a single platform.
View Article and Find Full Text PDFPurpose: To investigate the role of ultrasound (US) in the evaluation of intrinsic and extrinsic ligaments of the wrist with magnetic resonance arthrography (MRA) as the reference standard.
Materials And Methods: This prospective study included patients referred for MRA after wrist trauma. US examination was performed just before MRA.