Elisa Conti

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ALS is a heterogeneous disease that is not well understood. Epigenetic rearrangements are important in complex disorders including motor neuron diseases. The aim of this study was to determine whether whole-blood DNA methylation (DNA MET %) is a potential modifier of age at onset in ALS. DNA MET % was measured as incorporation of [(3)H]dCTP following HpaII(More)
OBJECTIVES Few data are available on thrombophilic risk factors and clinical outcome in patients undergoing percutaneous transluminal angioplasty (PTA) for peripheral arterial disease (PAD). We investigated the role of homocysteine, fibrinogen, Factor VIII (FVIII), lupus anticoagulant (LAC) and FII G20210A, and FV R506Q (FV Leiden) mutations as prognostic(More)
OBJECTIVE To identify the real number of hyperhomocysteinemic Alzheimer's patients who may benefit from homocysteine-lowering therapy. METHODS Basal and post-methionine load homocysteine levels were assessed by rp-HPLC system. RESULTS PML test revealed twice as many hyperhomocysteinemic AD subjects with respect to the fasting analysis. CONCLUSION PML(More)
Here we report the case of an ALS patient found to carry both a novel heterozygous change (c.194G>A) within the spastin gene and a homozygous deletion of the SMN2 gene. The patient was started on valproic acid (VPA, 600 mg/die per os) considering the capacity of this drug of increasing survival motor neuron through an epigenetic mechanism. Patient clinical(More)
Acetyl-cholinesterase inhibitors (AChEI) are drugs frequently prescribed for the treatment of Alzheimer's disease (AD), exerting an effect on cognition, as well as on behavioural and psychological symptoms of dementia and activities of daily living. The efficacy of AChEI may be ascribed not only to the activation of cholinergic transmission, but also to(More)
OBJECTIVES To investigate the correlation between maternal, obstetric and sample characteristics and the quality (i.e. yield of trophoblastic cells) of intrauterine lavage (IUL) samples. METHODS We collected 202 IUL samples from women scheduled for first trimester termination of pregnancy (TOP). Trophoblastic cells were isolated from IUL samples and used(More)
Down syndrome (DS) is the most common genetic disorder characterized by an extra copy of chromosome 21. DS subjects show signs of progressive cognitive decline, and most of them develop Alzheimer's type dementia at the age of 50 to 55 years. The aim of this study was to evaluate amyloid precursor protein (APP) metabolites and anti-Abeta 1-42 antibodies(More)
The clinical history of a patient with intermittent jaundice is presented. The diagnostic work up, including ultrasound, laparoscopy, and endoscopic retrograde cholangiography, revealed a multiloculated cystic mass in the left lobe of the liver. At laparotomy, a multicystic lesion invading the left hepatic duct and protruding into the common bile duct was(More)
We investigated the possible involvement of vascular damage in the pathogenesis of Alzheimer's disease (AD), by assessment of plasma levels of tissue factor pathway inhibitor (TFPI), a serine protease inhibitor induced by endothelial injury, and homocysteine (Hcy), a known risk factor for cerebrovascular disorders, folate levels were also measured. 110(More)