Publications by authors named "Gianni Amato"
Pegvaliase is approved to reduce phenylalanine (Phe) levels for people with phenylketonuria (PKU). PRISM-1 (NCT01819727) and PRISM-2 (NCT01889862) data were analyzed to evaluate the relationship between Phe and inattention in adult participants with PKU. In the modified-intent-to-treat population (N = 156), baseline mean (SE) plasma Phe was 1263 (29) μmol/L and the Attention Deficit Hyperactivity Disorder Rating Scale-IV Inattentive (IA) symptoms score was 9.
View Article and Find Full Text PDFBackground: The classic phenotype of CLN2 disease (neuronal ceroid lipofuscinosis type 2) typically manifests between ages 2 and 4 years with a predictable clinical course marked by epilepsy, language developmental delay, and rapid psychomotor decline. Atypical phenotypes exhibit variable time of onset, symptomatology, and/or progression. Intracerebroventricular-administered cerliponase alfa (rhTPP1 enzyme) has been shown to stabilize motor and language function loss in patients with classic CLN2 disease, but its impact on individuals with atypical phenotypes has not been described.
View Article and Find Full Text PDFEvaluation of Circulating Tumor DNA for Methylated and to Detect Recurrence of Stage II/Stage III Colorectal Cancer (CRC).
Cancer Epidemiol Biomarkers Prev
December 2020
Article Synopsis
- The study explored the use of circulating tumor DNA (ctDNA) through the COLVERA assay for earlier detection of recurrent colorectal cancer in patients who had undergone treatment, comparing its effectiveness to the traditional carcinoembryonic antigen (CEA) test.
- Among 322 patients, COLVERA showed a sensitivity of 63% for detecting recurrences, while CEA had a sensitivity of 48%, although COLVERA was less specific (91.5%) compared to CEA (96.3%).
- The findings suggest that while COLVERA could potentially improve early diagnosis of cancer recurrence, further studies with longer follow-up and repeated tests are needed to confirm its clinical benefits.
Context: A strong association between subclinical hypothyroidism (SCH) and atherosclerotic diseases, independent of the traditional risk factors, was noted.
Objective: The objective of the study was to evaluate the association between SCH and the inflammatory potential of atherosclerotic plaques as well as the role of L-T(4) replacement therapy (LTR) on regulation of plaque inflammation. EXPERIMENTAL DESIGN AND MAIN OUTCOME MEASURES: We examined the differences in macrophage content, proinflammatory cytokine infiltration, and oxidative stress between asymptomatic carotid plaques of patients with and without SCH and LTR.