Publications by authors named "Regina Sebastiano"
Article Synopsis
- Strict guidelines can make it hard to tell if certain genetic changes are harmful for conditions like long QT syndrome and Brugada syndrome, leading to many unclear results.
- Scientists compared genetic data from patients with these conditions to other population data to create better rules that help identify which genetic changes are serious.
- Their new approach showed that they could find more harmful genetic variants in European patients, making genetic testing for these heart diseases more accurate and reliable.
Background: Primary hyperoxaluria (PH) is a rare autosomal recessive disease commonly arising in childhood and presenting with nephrolithiasis, nephrocalcinosis and/or chronic renal failure. Three genes are currently known as responsible: alanine-glyoxylate aminotransferase (AGXT, PH type 1), glyoxylate reductase/hydroxypyruvate reductase (GRHPR, PH type 2), and 4-hydroxy-2-oxoglutarate aldolase (HOGA1, PH type 3). In our Centre, at the end of 2014 molecular diagnosis of PH1 had been performed in 80 patients, while one patient received a PH2 diagnosis.
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