Publications by authors named "Mafalda Caputo"
Article Synopsis
- Alzheimer's disease (AD) is a serious condition that affects memory and thinking in older people, and it's linked to the buildup of certain substances in the brain, like Aβ plaques and tau tangles.
- Researchers are looking for better ways to spot AD early and keep track of it, using new techniques like mass spectrometry to find important molecules in the body called biomarkers.
- This review shares recent studies from 2009 to 2020 that show how metabolomics (the study of small molecules) could help identify new ways to diagnose Alzheimer's, discussing the pros and cons of different research methods.
Background: Cystic fibrosis (CF) patients have reduced intestinal absorption of sterols and, despite enhanced endogenous synthesis, low plasma cholesterol. Lumacaftor/ivacaftor CFTR protein modulator therapy is used to improve the clinical outcome of CF patients homozygous for F508del mutation (homo-deltaF508). Aim of the study is to evaluate the cholesterol metabolism and hepatobiliary injury/function in adult homo-deltaF508 patients, before and after lumacaftor/ivacaftor treatment.
View Article and Find Full Text PDFCerebrotendinous Xanthomatosis (CTX) is an autosomal recessive defect of the alternative pathway of bile acid biosynthesis, due to the deficiency of mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1. The deficit of sterol 27-hydroxylase raises cholestanol in plasma and tissues of affected patients. Although there is a marked variability of signs, symptoms, severity and age of onset, the main clinical manifestations of CTX include chronic diarrhea, bilateral cataract, tendon xanthomas and neurological dysfunction.
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