Publications by authors named "Emma Proietti Piorgo"
Rare diseases are heterogeneous diseases characterized by various symptoms and signs. Due to the low prevalence of such conditions (less than 1 in 2000 people), medical expertise is limited, knowledge is poor and patients' care provided by medical centers is inadequate. An accurate diagnosis is frequently challenging and ongoing research is also insufficient, thus complicating the understanding of the natural progression of the rarest disorders.
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- FSHD is a myopathy linked to changes in DNA methylation at the D4Z4 locus, and this study evaluates the effectiveness of a methylation assay as a diagnostic tool.
- The research involved 218 individuals suspected of having FSHD, comparing traditional molecular testing with the new methylation assay to assess accuracy and consistency.
- The refined methylation assay showed high sensitivity (90%), specificity (100%), and accuracy (93%), indicating its potential for early detection, even in asymptomatic individuals with a family history of FSHD.
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant disease, although 10%-30% of cases are sporadic. However, this percentage may include truly de novo patients (carrying a reduced D4Z4 allele that is not present in either of the parents) and patients with apparently sporadic disease resulting from mosaicism, non-penetrance, or complex genetic situations in either patients or parents. In this study, we characterized the D4Z4 Reduced Alleles (DRA) and evaluated the frequency of truly de novo cases in FSHD1 in a cohort of DNA samples received consecutively for FSHD-diagnostic from 100 Italian families.
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