Publications by authors named "S Barella"
Genetic testing is recommended by various professional organizations as part of clinical guidelines during the evaluation of autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, previous studies demonstrate that rates of genetic testing are low. This study aimed to identify the rates of genetic testing within a large university healthcare network and factors that may be associated with higher or lower rates.
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- A study analyzed 663 patients with transfusion-dependent β-thalassemia who received one of three iron chelation therapies (deferoxamine, deferiprone, or deferasirox) for up to 10 years, showing significant reductions in serum ferritin levels across all treatments.
- Despite these reductions, there were no notable changes in liver iron concentration or heart health indicators, as patients started with low levels of iron in these areas.
- While deferasirox was linked to better morbidity and mortality-free survival compared to deferoxamine, overall, the iron chelation effectiveness was similar among all three treatments in managing mild-to-moderate iron overload in patients.
Data on iron overload status and change thresholds that can predict mortality in patients with transfusion-dependent β-thalassemia (TDT) are limited. This was a retrospective cohort study of 912 TDT patients followed for up to 10 years at treatment centers in Italy (median age 32 years, 51.6% female).
View Article and Find Full Text PDFRate and risk factors for phenoconversion from non-transfusion-dependent β-thalassemia (NTDT) to transfusion-dependent β-thalassemia (TDT) during a 10-year follow up of adult patients in Italy.
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