Publications by authors named "L Pezone"

Multiple sclerosis is a chronic immune-mediated disorder of the central nervous system with a high heterogeneity among patients. In the clinical setting, one of the main challenges is a proper and early diagnosis for the prediction of disease activity. Current diagnosis is based on the integration of clinical, imaging, and laboratory results, with the latter based on the presence of intrathecal IgG oligoclonal bands in the cerebrospinal fluid whose detection via isoelectric focusing followed by immunoblotting represents the gold standard.

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is associated with the development of high-risk neuroblastoma patients. Particularly, the expression of full length (FL) isoform, FL , correlates to high-risk neuroblastoma development and its inhibition is sufficient to induce neuroblastoma cells towards a worst phenotype. Here we have investigated the mechanisms of FL in neuroblastoma cell lines depleted for FL expression.

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Article Synopsis
  • - A study was conducted on 249 fetuses with increased nuchal translucency (NT) or cystic hygroma to assess the effectiveness of karyotype, chromosome microarray analysis (CMA), and non-invasive prenatal testing (NIPT) in detecting chromosome anomalies.
  • - The findings revealed 103 chromosomal anomalies were identified through karyotyping, while CMA detected additional pathogenic and likely pathogenic copy number variants, highlighting the complexity of interpreting genetic results.
  • - The study concluded that NIPT is not reliable for detecting anomalies associated with ultrasound signs, and while CMA is valuable as a follow-up to rapid aneuploidy testing, karyotype analysis should not be overlooked.
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Background: HIF1A (Hypoxia-Inducible-Factor 1A) expression in solid tumors is relevant to establish resistance to therapeutic approaches. The use of compounds direct against hypoxia signaling and HIF1A does not show clinical efficiency because of changeable oxygen concentrations in solid tumor areas. The identification of HIF1A targets expressed in both normoxia and hypoxia and of HIF1A/hypoxia signatures might meliorate the prognostic stratification and therapeutic successes in patients with high-risk solid tumors.

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Neuroblastoma (NBL) accounts for >7% of malignancies in patients younger than 15 years. Low- and intermediate-risk patients exhibit excellent or good prognosis after treatment, whereas for high-risk (HR) patients, the estimated 5-year survival rates is still <40%. The ability to stratify HR patients that will not respond to standard treatment strategies is critical for informed treatment decisions.

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