ORCID Profile
0000-0002-7781-602X
Current Organisations
Universita degli Studi di Roma Tor Vergata
,
University of Oxford
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Publisher: Springer Science and Business Media LLC
Date: 1999
Publisher: Hindawi Limited
Date: 1996
DOI: 10.1002/(SICI)1098-1004(1996)8:4<369::AID-HUMU12>3.0.CO;2-0
Abstract: Playgrounds are designed to be a safe, enjoyable, and effective means to promote physical activity in children and adolescents. The purpose of this study was to conduct a meta-analysis to determine the effectiveness of playground interventions for improving accelerometer-assessed ambulatory moderate-to-vigorous physical activity (MVPA) and to identify common aspects of playground interventions that may be beneficial to promote behavior change. An internet database search was performed. The final analyzed s le of studies was obtained from several criteria, including being a playground-based intervention targeting children or adolescents, having a control or comparison group, having an accelerometer-assessed MVPA outcome target variable, and reporting of the mean difference scores' variability. A random-effects model meta-analysis was employed to obtain pooled effect sizes. Ten studies (
Publisher: Springer Science and Business Media LLC
Date: 08-2019
Publisher: Elsevier BV
Date: 1998
Abstract: The galactosemias are a series of three inborn errors of metabolism caused by deficiency of any one of the three human galactose-metabolic enzymes: galactokinase (GALK), galactose-1-phosphate uridyl transferase (GALT), and UDP-galactose 4' epimerase (GALE). We report here the characterization of the entire coding sequence of the GALE gene and screening for mutations in epimerase-deficient in iduals. The human GALE gene is about 4 kb in size and is ided into 11 exons on chromosome band 1p36. We have identified five mutations in the GALE gene of epimerase-deficient galactosemia patients. The patients were either homozygotes or compound heterozygotes for mutations. These results confirm that epimerase-deficiency galactosemia is the result of missense mutations in the GALE gene and indicate that the disease is characterized by extensive allelic heterogeneity.
Publisher: Public Library of Science (PLoS)
Date: 27-02-2012
Publisher: Future Medicine Ltd
Date: 04-2004
DOI: 10.1517/PHGS.5.3.283.29828
Abstract: Prostate cancer is the most common non-skin cancer in the US it is the second leading cause of death from cancer among US men, and the seventh leading cause of death in the US. This review examines the recent biochemical and pharmacogenetic literature related to prostate cancer, specifically that which focused on constitutional (‘germline’) single nucleotide polymorphisms at ‘functional candidate’ genes for prostate cancer. The investigations summarized in this review demonstrate the need to study the molecular genetics at these loci to rationally develop personalized medicine. In addition, the identification of somatic pharmacogenetic alterations in one of these loci suggests that this may also be a fruitful field of investigations with important clinical applications. Pharmacogenomic investigations of constitutional and tumor DNA may lead to significant advances in chemoprevention, presymptomatic diagnosis and improved treatment of prostate cancer.
Publisher: Future Medicine Ltd
Date: 02-2001
Abstract: Prostate cancer (PCa) and benign prostatic hypertrophy (BPH) are two common and growing public health problems in the Western world. We review here the recent biochemical and pharmacogenetic literature related to these two prostatic disorders. We focus first on constitutional (‘germline’) single nucleotide polymorphism (SNPs) at the steroid 5α-reductase (SRD5A2) locus, which encodes the human prostatic (or Type II) steroid 5α-reductase enzyme. The investigations reviewed point to several uses of personalised medicine at the SRD5A2 locus. In addition, we report on recent identification of somatic pharmacogenetic alterations at the androgen receptor (AR) locus, which encodes the human androgen receptor, suggesting that this also may be a fruitful field of investigation, with important clinical applications. Pharmacogenomic investigation of constitutional and somatic DNA changes in human genes predisposing to cancer may lead to significant advances in chemoprevention, presymptomatic diagnosis and improved treatment of PCa.
Publisher: Public Library of Science (PLoS)
Date: 09-02-2011
Publisher: Wiley
Date: 07-08-2002
DOI: 10.1002/PROS.10134
Abstract: Prostate cancer is a significant public health problem in this country. Substantial data support a plausible role for androgens in the etiology of this disease. The human HSD17B3 gene encodes the testicular (or type III) 17 beta-hydroxysteroid dehydrogenase enzyme, which catalyzes testosterone biosynthesis in men. We have investigated the G289S (glycine at codon 289 replaced by serine) polymorphism at the HSD17B3 locus as a candidate single nucleotide polymorphism (SNP) for prostate cancer risk in constitutional DNA from 103 Italian prostate cancer patients and 109 Italian disease-free centenarians to assess the role of this SNP in susceptibility to prostate cancer. The G289S polymorphism confers a significant increase in risk for prostate cancer (odds ratio = 2.5 95% confidence interval, 1.03-6.07) in our study population. Our data are consistent with a plausible role of the G289S SNP in prostate cancer susceptibility. Therefore, the HSD17B3 gene may be a plausible candidate gene for prostate cancer risk.
Publisher: BMJ
Date: 14-01-2016
DOI: 10.1136/THORAXJNL-2014-206716
Abstract: The mucoactive effects of hypertonic saline should promote exacerbation resolution in people with cystic fibrosis (CF). To determine the effects of hypertonic saline inhalation during hospitalisation for exacerbation of CF on length of stay, lung function, symptoms, oxygenation, exercise tolerance, quality of life, bacterial load and time to next hospitalisation. 132 adults with an exacerbation of CF were randomised to inhale three nebulised doses a day of either 4 mL 7% saline or a taste-masked control of 0.12% saline, throughout the hospital admission. The primary outcome measure was length of hospital stay. All participants tolerated their allocated saline solution. There was no significant difference in length of stay, which was 12 days in the hypertonic saline group and 13 days in controls, with a mean between-group difference (MD) of 1 day (95% CI 0 to 2). The likelihood of regaining pre-exacerbation FEV1 by discharge was significantly higher in the hypertonic saline group (75% vs 57%), and the number needed to treat was 6 (95% CI 3 to 65). On a 0-100 scale, the hypertonic saline group had significantly greater reduction in symptom severity than the control group at discharge in sleep (MD=13, 95% CI 4 to 23), congestion (MD=10, 95% CI 3 to 18) and dyspnoea (MD=8, 95% CI 1 to 16). No significant difference in time to next hospitalisation for a pulmonary exacerbation was detected between groups (HR=0.86 (CI 0.57 to 1.30), p=0.13). Other outcomes did not significantly differ. Addition of hypertonic saline to the management of a CF exacerbation did not reduce the length of hospital stay. Hypertonic saline speeds the resolution of exacerbation symptoms and allows patients to leave hospital with greater symptom resolution. ACTRN12605000780651.
Publisher: American Association for the Advancement of Science (AAAS)
Date: 12-08-2021
DOI: 10.1126/SCIIMMUNOL.ABL4348
Abstract: TLR7 and plasmacytoid dendritic cells are essential for type I IFN–dependent immunity to SARS-CoV-2 in the lungs.
Publisher: American Association for the Advancement of Science (AAAS)
Date: 23-10-2020
Abstract: The immune system is complex and involves many genes, including those that encode cytokines known as interferons (IFNs). In iduals that lack specific IFNs can be more susceptible to infectious diseases. Furthermore, the autoantibody system d ens IFN response to prevent damage from pathogen-induced inflammation. Two studies now examine the likelihood that genetics affects the risk of severe coronavirus disease 2019 (COVID-19) through components of this system (see the Perspective by Beck and Aksentijevich). Q. Zhang et al. used a candidate gene approach and identified patients with severe COVID-19 who have mutations in genes involved in the regulation of type I and III IFN immunity. They found enrichment of these genes in patients and conclude that genetics may determine the clinical course of the infection. Bastard et al. identified in iduals with high titers of neutralizing autoantibodies against type I IFN-α2 and IFN-ω in about 10% of patients with severe COVID-19 pneumonia. These autoantibodies were not found either in infected people who were asymptomatic or had milder phenotype or in healthy in iduals. Together, these studies identify a means by which in iduals at highest risk of life-threatening COVID-19 can be identified. Science , this issue p. eabd4570 , p. eabd4585 see also p. 404
Publisher: Springer Science and Business Media LLC
Date: 05-06-2014
DOI: 10.1038/GENE.2014.28
Publisher: Springer Science and Business Media LLC
Date: 12-2020
DOI: 10.1186/S40246-020-00298-W
Abstract: The COVID-19 pandemic is sweeping the world and will feature prominently in all our lives for months and most likely for years to come. We review here the current state 6 months into the declared pandemic. Specifically, we examine the role of the pathogen, the host and the environment along with the possible role of diabetes. We also firmly believe that the pandemic has shown an extraordinary light on national and international politicians whom we should hold to account as performance has been uneven. We also call explicitly on competent leadership of international organizations, specifically the WHO, UN and EU, informed by science. Finally, we also condense successful strategies for dealing with the current COVID-19 pandemic in democratic countries into a developing pandemic playbook and chart a way forward into the future. This is useful in the current COVID-19 pandemic and, we hope, in a very distant future again when another pandemic might arise.
Publisher: Springer Science and Business Media LLC
Date: 10-06-2020
Publisher: Springer Science and Business Media LLC
Date: 08-2019
Publisher: Future Medicine Ltd
Date: 06-2007
Abstract: Prostate cancer is the most frequent male malignancy diagnosed in western countries and the second leading cause of cancer-related deaths. The growth and function of the prostate gland depends on androgens. Owing to the importance of androgens in prostate development, genes involved in androgen biosynthesis and metabolism have been extensively studied. In this review, we address recent progress toward the use of inherited and acquired genetic variants to predict susceptibility and clinical outcomes of prostate cancer patients. Many of these genetic variants involve several genes related to the biosynthesis and metabolism of androgens, such as steroid-5-α-reductase, α polypeptide 2 (SRD5A2), cytochrome P450 (CYP)19A1, CYP17A1, hydroxy-δ-5-steroid dehydrogenase, 3 β- and steroid δ-isomerase 2 (HSD3B2) and androgen receptor (AR). With increasing knowledge, it may be possible to distinguish indolent from aggressive prostate tumors by molecular fingerprinting. Furthermore, with the emergence of new investigative tools, such as microarray platforms and comparative genomic hybridization (CGH) array, a variety of new genomic biomarkers will be available in the future to provide accurate prognostic and monitoring solutions for in idualized patient care.
Publisher: Springer Science and Business Media LLC
Date: 21-11-2015
DOI: 10.1007/S00439-014-1509-2
Abstract: Mutations in ANKRD11 have recently been reported to cause KBG syndrome, an autosomal dominant condition characterized by intellectual disability (ID), behavioral problems, and macrodontia. To understand the pathogenic mechanism that relates ANKRD11 mutations with the phenotype of KBG syndrome, we studied the cellular characteristics of wild-type ANKRD11 and the effects of mutations in humans and mice. We show that the abundance of wild-type ANKRD11 is tightly regulated during the cell cycle, and that the ANKRD11 C-terminus is required for the degradation of the protein. Analysis of 11 pathogenic ANKRD11 variants in humans, including six reported in this study, and one reported in the Ankrd11 (Yod/+) mouse, shows that all mutations affect the C-terminal regions and that the mutant proteins accumulate aberrantly. In silico analysis shows the presence of D-box sequences that are signals for proteasome degradation. We suggest that ANKRD11 C-terminus plays an important role in regulating the abundance of the protein, and a disturbance of the protein abundance due to the mutations leads to KBG syndrome.
Publisher: Springer Science and Business Media LLC
Date: 03-1988
DOI: 10.1007/BF00291662
Abstract: This study was conducted to investigate the effect of testosterone replacement treatment (TRT) in testosterone deficiency syndrome (TDS) patients with metabolic syndrome. We reviewed the data of 200 men who were diagnosed with TDS and were undergoing TRT between August 2006 and August 2009. The 200 patients were ided into two groups (group 1: 71 patients with metabolic syndrome, group 2: 129 patients without metabolic syndrome) depending on metabolic syndrome, which was diagnosed according to the NCEP III criteria for Asians. Age, BMI (body mass index), waist circumference, serologic tests, AMS (the Aging Males' Symptoms scale), and IIEF (International Index of Erectile Function) were measured. In group 1, waist circumference and fasting glucose were significantly decreased hemoglobin and total testosterone were increased and the somatovegetative scale score of the AMS, the total AMS score, the erectile function score of the IIEF, the overall satisfaction score of the IIEF, and the total IIEF score were significantly improved after TRT. On the other hand, in group 2, waist circumference, BMI, total cholesterol, LDL, and fasting glucose were significantly decreased hemoglobin and total testosterone were increased and the 2 subscale scores of the AMS (psychologic and somatovegetative), the total AMS score, all subscale scores of the IIEF, and the total IIEF score were significantly improved after TRT. Overall, the patients who had TDS with metabolic syndrome showed less improvement in AMS, IIEF, and serum variables. Therefore, the correction of metabolic syndrome, such as diabetes, obesity, and hypertension, should be considered during TRT.
Publisher: Hindawi Limited
Date: 1999
DOI: 10.1002/(SICI)1098-1004(1999)13:6<417::AID-HUMU1>3.0.CO;2-0
Publisher: Elsevier BV
Date: 09-2000
Publisher: Springer Science and Business Media LLC
Date: 24-03-2021
DOI: 10.1038/S41419-021-03513-1
Abstract: SARS-CoV-2 is responsible for the ongoing world-wide pandemic which has already taken more than two million lives. Effective treatments are urgently needed. The enzymatic activity of the HECT-E3 ligase family members has been implicated in the cell egression phase of deadly RNA viruses such as Ebola through direct interaction of its VP40 Protein. Here we report that HECT-E3 ligase family members such as NEDD4 and WWP1 interact with and ubiquitylate the SARS-CoV-2 Spike protein. Furthermore, we find that HECT family members are overexpressed in primary s les derived from COVID-19 infected patients and COVID-19 mouse models. Importantly, rare germline activating variants in the NEDD4 and WWP1 genes are associated with severe COVID-19 cases. Critically, I3C, a natural NEDD4 and WWP1 inhibitor from Brassicaceae , displays potent antiviral effects and inhibits viral egression. In conclusion, we identify the HECT family members of E3 ligases as likely novel biomarkers for COVID-19, as well as new potential targets of therapeutic strategy easily testable in clinical trials in view of the established well-tolerated nature of the Brassicaceae natural compounds.
Location: United States of America
Location: Italy
Location: Italy
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for Giuseppe Novelli.