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Ventriglia M.,Fatebenefratelli Foundation for Health Research and Education | Brewer G.J.,University of Michigan | Simonelli I.,IRCCS San Raffaele Pisana | Mariani S.,Fatebenefratelli Foundation for Health Research and Education | And 5 more authors.
Journal of Alzheimer's Disease | Year: 2015

To evaluate whether zinc levels in serum, plasma, and cerebrospinal fluid are altered in Alzheimer's disease (AD), we performed meta-analyses of 27 studies on the topic published from 1983 to 2014. The subjects' sample obtained by merging studies was a pooled total of 777 AD subjects and 1,728 controls for serum zinc studies, 287 AD subjects and 166 controls for plasma zinc, and of 292 AD subjects and 179 controls for CSF zinc. The main result of this meta-analysis is the very high heterogeneity among the studies either in demographic terms or in methodological approaches. Although we considered these effects in our analyses, the heterogeneity persisted and it has to be taken into account in the interpretation of the results. Our meta-analysis indicated that serum zinc appears significantly decreased in AD patients compared with healthy controls, and this result is confirmed when serum and plasma studies were analyzed together. If we considered the age-matched studies, the meta-analysis carried out on only six studies showed no significant difference in zinc levels between AD and healthy controls (SMD =-0.55, 95% CI (-1.18; 0.09); p = 0.094; I2 = 91%). In the light of these findings, we speculated about the possibility that the decreases observed could indicate a possible dietary zinc deficiency and we suggested that the possible involvement of zinc alterations in AD may have an interplay with copper metabolism. © 2015 - IOS Press and the authors. All rights reserved.

Pagliano E.,Developmental Neurology Division | Moroni I.,C Besta Neurological Institute | Baranello G.,Developmental Neurology Division | Magro A.,Developmental Neurology Division | And 4 more authors.
Journal of the Peripheral Nervous System | Year: 2011

Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, presenting with symptoms often occurring since childhood, and showing a progressive course. At present, there are no valid and reliable measures for evaluation of impairment and disability in the pediatric population. The aim of this study was to determine the usefulness of outcome measures, commonly used in adult patients, in CMT children. We report the results of a comprehensive evaluation of 21 children affected with CMT type 1A, including clinical examinations, measure of hand and foot muscle strength with a hand-held dynamometer, and the following scales: CMT Neuropathy Score or its clinical component CMT Examination Score, Overall Neuropathy Limitations Scale (ONLS), Walk-12 questionnaire, and nine-hole peg test (9-HPT). Hand grip, three-point pinch, and foot dorsiflexion strength were significantly lower than age/sex equivalent in almost all cases. 9-HPT was significantly abnormal in 62% of patients and CMT Examination Score was <10 points in all cases. ONLS showed presence of minor disability in the upper limbs in 57% and mild abnormalities of gait in 71% of patients. Overall, these scales demonstrated limited potential to measure disability and severity of the disease confirming that it is necessary to identify specific scales for children with CMT. © 2011 Peripheral Nerve Society.

Sterpone S.,Third University of Rome | Mastellone V.,Third University of Rome | Padua L.,Don Carlo Gnocchi Foundation ONLUS | Novelli F.,ENEA | And 6 more authors.
Journal of Cancer Research and Clinical Oncology | Year: 2010

Purpose: This study aimed to assess whether haplotypes in XRCC1 and SNPs in OGG1 and XRCC3 were associated with an increased risk of developing breast cancer (BC) and early adverse reactions after radiotherapy. Methods: 43 Italian breast cancer patients and 31 healthy controls were genotyped for XRCC1(-77T→C,194,399), OGG1-326 and XRCC3-241 by RFLP-PCR. Results: XRCC1-77T→C, XRCC1-194, OGG1 and XRCC3 were not associated with BC. On the contrary, we found a significant association (p ≤ 0.05) between breast cancer occurrence and XRCC1-399. The haplotype (H3) containing the variant allele at codon 399, together with variant C allele in the promoter and wild-type G allele at codon 194 was associated with higher BC risk [p = 0.009, OR = 7.04(1.63-30)]. The probability for developing this tumor was also increased by the number of SNPs in different genes. We found a significantly higher BC risk in subjects with ≥3 SNPs [OR = 2.72 (0.99-7.39), p = 0.04]. Conclusion: In our study, the 399-Gln allele of XRCC1 increased significantly the risk of BC and it may act as a dominant allele [Arg/Arg vs. (Gln/Gln + Arg/Gln), OR = 4.67 (95% CI 1.65-13.23), p = 0.005]. The combination of variant alleles at codon 399 and in position -77 could affect XRCC1 protein activity, impairing genome integrity and promoting cancer occurrence. Also, the number of SNPs in several genes involved in BER and HRR mechanisms made higher the risk of sporadic BC. We can conclude that genetic variants in multiple repair pathways may have a joint or additive effect in cancer risk. © 2010 Springer-Verlag.

Rossi P.,INI Grottaferrata | Rossi P.,University Center for Adaptive Disorders and Head Pain | Allena M.,University Center for Adaptive Disorders and Head Pain | Allena M.,University of Pavia | And 8 more authors.
Cephalalgia | Year: 2012

Background: The rate of illicit drug use in cluster headache (CH) patients is unknown.Methods: Two hundred and ten CH patients (162 males and 48 females) attending two headache clinics provided information about their lifetime use (once or more in their lifetime, LTU), recent use (once or more in the past year, RU), and current use (once or more in the past 30 days, CU) of illicit drugs. General population data (IPSAD®Italia2007-2008) served as the control group.Results: LTU of each illicit drug but hallucinogens, RU of cannabis, cocaine, amphetamines and ecstasy, and CU of cannabis and cocaine were significantly higher in the male CH patients than in the general population, whereas no difference was found between the CH women and the controls. In the CH group, 28.5% of patients reported having used illicit drugs for the first time after CH onset and 71.5% before CH onset. Compared with the controls, the male CH group showed a greater prevalence both of lifetime sustained intensive use of any illicit drug and of current intensive use of cannabis.Conclusion: The results of this study indicate that male CH patients are prone to overindulge in illicit drug use. This finding possibly reflects a common biological susceptibility that predisposes these subjects to CH and to addictive behaviour. © International Headache Society 2012.

Siotto M.,Don Carlo Gnocchi Foundation ONLUS | Pasqualetti P.,Fatebenefratelli Foundation for Health Research and Education | Marano M.,Biomedical University of Rome | Squitti R.,Fatebenefratelli Foundation for Health Research and Education | Squitti R.,Laboratorio Of Neurodegenerazione
Journal of Neural Transmission | Year: 2014

Ceruloplasmin (Cp) is a serum ferroxidase that plays an essential role in iron metabolism. It is routinely tested by immunoturbidimetric assays that quantify the concentration of the protein both in its active and inactive forms. Cp activity is generally analyzed manually; the process is time-consuming, has a limited repeatability, and is not suitable for a clinical setting. To overcome these inconveniences, we have set the automation of the o-dianisidine Cp activity assay on a Cobas Mira Plus apparatus. The automation was rapid and repeatable, and the data were provided in terms of IU/L. The assay was adapted for human sera and showed a good precision [coefficient of variation (CV) 3.7 %] and low limit of detection (LoD 11.58 IU/L). The simultaneous analysis of Cp concentration and activity in the same run allowed us to calculate the Cp-specific activity that provides a better index of the overall Cp status. To test the usefulness of this automation, we tested this assay on 104 healthy volunteers and 36 patients with Wilson’s disease, hepatic encephalopathy, and chronic liver disease. Cp activity and specific activity distinguished better patients between groups with respect to Cp concentration alone, and providing support for the clinical investigation of neurological diseases in which liver failure is one of the clinical hallmarks. © Springer-Verlag Wien 2014.

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