Publications by authors named "M Saccoliti"
Article Synopsis
- Nemaline myopathy (NM) is a muscle disorder characterized by a wide range of clinical severity, largely influenced by specific genetic mutations, with ACTA1 being a key gene linked to severe cases.
- Researchers studied a cohort of ten families with severe NM, finding that affected individuals often faced significant muscle weakness from birth and many did not survive beyond the early months of life; DNA testing revealed mutations in the ACTA1 gene for all cases.
- Muscle biopsy analysis showed distinctive NM histopathology, such as abnormal muscle structure and changes in nuclear organization, which were validated by examining similar cases, suggesting a deeper understanding of the disease's genetic and structural complexities.
Purpose: Non-invasive encapsulated follicular variant of papillary thyroid cancer was reclassified as non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP). These neoplasms have an extremely low malignant potential. The aim of this study was (1) to assess the prevalence of NIFTP in patients with papillary thyroid carcinoma, (2) to evaluate their outcomes, and (3) to determine their molecular profile.
View Article and Find Full Text PDFObjective: To describe the clinical and molecular features of a group of Argentinian pediatric patients with mitochondrial DNA (mtDNA) disorders, and to evaluate the results of the implementation of a classical approach for the molecular diagnosis of mitochondrial diseases.
Methods: Clinical data from 27 patients with confirmed mtDNA pathogenic variants were obtained from a database of 89 patients with suspected mitochondrial disease, registered from 2014 to 2020. Clinical data, biochemical analysis, neuroimaging findings, muscle biopsy and molecular studies were analyzed.
Autosomal dominant limb girdle muscular dystrophy D3 HNRNPDL-related is a rare dominant myopathy caused by mutations in HNRNPDL. Only three unrelated families have been described worldwide, a Brazilian and a Chinese carrying the mutation c.1132G>A p.
View Article and Find Full Text PDFTumorlets are pulmonary neuroendocrine tumors smaller than 0.5 cm. They are benign and usually asymptomatic.
View Article and Find Full Text PDF