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Search Results: 1 - 10 of 198004 matches for " Francesco D Tiziano "
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Biomarkers in Rare Disorders: The Experience with Spinal Muscular Atrophy
Francesco D. Tiziano,Giovanni Neri,Christina Brahe
International Journal of Molecular Sciences , 2011, DOI: 10.3390/ijms12010024
Abstract: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous mutations of the SMN1 gene. Based on clinical severity, three forms of SMA are recognized (type I–III). All patients have at least one (usually 2–4) copies of a highly homologous gene (SMN2) which produces insufficient levels of functional SMN protein, due to alternative splicing of exon7. Recently, evidence has been provided that SMN2 expression can be enhanced by different strategies. The availability of potential candidates to treat SMA has raised a number of issues, including the availability of data on the natural history of the disease, the reliability and sensitivity of outcome measures, the duration of the studies, and the number and clinical homogeneity of participating patients. Equally critical is the availability of reliable biomarkers. So far, different tools have been proposed as biomarkers in SMA, classifiable into two groups: instrumental (the Compound Motor Action Potential, the Motor Unit Number Estimation, and the Dual-energy X-ray absorptiometry) and molecular (SMN gene products dosage, either transcripts or protein). However, none of the biomarkers available so far can be considered the gold standard. Preclinical studies on SMA animal models and double-blind, placebo-controlled studies are crucial to evaluate the appropriateness of biomarkers, on the basis of correlations with clinical outcome.
Spinal muscular atrophy
Adele D'Amico, Eugenio Mercuri, Francesco D Tiziano, Enrico Bertini
Orphanet Journal of Rare Diseases , 2011, DOI: 10.1186/1750-1172-6-71
Abstract: Considering the high carrier frequency, carrier testing is requested by siblings of patients or of parents of SMA children and are aimed at gaining information that may help with reproductive planning. Individuals at risk should be tested first and, in case of testing positive, the partner should be then analyzed. It is recommended that in case of a request on carrier testing on siblings of an affected SMA infant, a detailed neurological examination should be done and consideration given doing the direct test to exclude SMA. Prenatal diagnosis should be offered to couples who have previously had a child affected with SMA (recurrence risk 25%). The role of follow-up coordination has to be managed by an expert in neuromuscular disorders and in SMA who is able to plan a multidisciplinary intervention that includes pulmonary, gastroenterology/nutrition, and orthopedic care. Prognosis depends on the phenotypic severity going from high mortality within the first year for SMA type 1 to no mortality for the chronic and later onset forms.Spinal muscular atrophy (SMA) is a severe neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. The disease was first described in the 1890s by Werdnig [1] and by Hoffmann [2]. The genetic defect was localized to 5q11.2-q13.3 a century later [3] with the identification of the survival motor neuron gene (SMN) gene as the disease-causing gene in 1995 [4].SMA is the second most common fatal autosomal recessive disorder after cystic fibrosis, with an estimated incidence of 1 in 6,000 to 1 in 10,000 live births, with a carrier frequency of 1/40-1/60 [5,6].SMA is clinical classified into four phenotypes on the basis of age of onset and motor function achieved [7] (See table 1).SMA type 1 (Werdnig-Hoffmann disease) is the most severe and common type, which accounts for about 50% of patients diagnosed with SMA. Classically infants with SMA type
Partial protective effect of CCR5-Delta 32 heterozygosity in a cohort of heterosexual Italian HIV-1 exposed uninfected individuals
Enrico M Trecarichi, Mario Tumbarello, Katleen Donati, Enrica Tamburrini, Roberto Cauda, Christina Brahe, Francesco D Tiziano
AIDS Research and Therapy , 2006, DOI: 10.1186/1742-6405-3-22
Abstract: In conclusion, our data show a significantly higher frequency of CCR5-Delta 32 heterozygous genotype (p = 0.04) among the Italian heterosexual ESN individuals compared to HIV-1 seropositive patients, suggesting a partial protective role of CCR5-Delta 32 heterozygosity in this cohort.Despite multiple sexual exposures to HIV-1 virus, some individuals remain HIV-1 seronegative (exposed seronegative, ESN). Although severe factors have been related to HIV-1 infection resistance, the possible genetic mechanisms underlying this resistance presently remain elusive [1,2]. The most investigated genetic factor associated with HIV-1 infection resistance is the homozygous presence of a 32 bp deletion in CCR5 gene (CCR5-Delta 32) [3], i.e. the main co-receptor used by the macrophage (M)-tropic strain of the virus to infect peripheral blood mononuclear cells. The 32 bp deletion leads to the synthesis of a truncated protein which does not allow the proper interaction between HIV-1 and the cell surface, thus preventing virion endocytosis. Only 1% of Caucasian individuals is homozygous for CCR5-Delta 32 allele and the frequency of this genotype has been reported to be slightly higher in anti HIV-1 seronegative individuals at high risk of HIV-1-infection [4,5].Other genetic factors have been reported to be involved in HIV-1 infection susceptibility. It has been suggested that the C77G variant in exon 4 of the CD45 gene (CD45-C77G) is more frequent in HIV-1 infected subjects, compared to uninfected individuals [6]. This transversion is responsible for an abnormal splicing of exon 4, leading to the production of a high molecular weight isoform of the protein, normally expressed in the naive T cells but not in the normal activated T cells [7]. Other mutations of this gene have been associated to severe forms of combined immunodeficiency in humans [7].In the present study we investigated the possible role of CCR5 and CD45 genic variants in the resistance to HIV-1 infection in a cohort of
Coronary artery bypass grafting in diabetic patients: Should we still use the saphenous vein graft? A review of literature in the past 15 years  [PDF]
Alberto Molardi, Filippo Benassi, Francesco Nicolini, Francesco Nicolini, Francesco Maestri, Tiziano Gherli
World Journal of Cardiovascular Diseases (WJCD) , 2013, DOI: 10.4236/wjcd.2013.34A004
Abstract: The burden of diseases associated with diabetes mellitus is dramatic: adults with diabetes mellitus are 2 to 4 times more likely to have cardiovascular diseases than those without it, and at least 65% will die because of diabetes complications. The revascularization strategy in these types of patients included percutaneous coronary interventions with bare metal stents or medicated stents and surgical coronary artery bypass grafting (CABG), but it is well known that in the diabetic patient with two or more vessel disease, the surgical strategy allows the best mid- and long- term results. Moreover, benefits of CABG surgery are limited by life expectancy of the most common type of graft, the saphenous vein (SV). Nearly 40 years after the introduction of bypass surgery, the rate of vein graft failure remains at high levels. Several arterial conduits had been studied as alternative conduits to SV: the Right Internal Thoracic Artery (RITA), the Radial Artery (RA), the Gastroepiploic Artery (GEA) and the Inferior Epigastric Artery (IEA), 40 years ago. The aim of our article is to review the scientific literature of the past 15 years to answer this question: are we ready to treat the diabetic patient, with a completely arterial revascularization, avoiding the use of the great saphenous vein grafts?
Surgical treatment for functional mitral regurgitation secondary to dilated cardiomyopathy: Current options and future trends  [PDF]
Francesco Nicolini, Francesco Maestri, Andrea Agostinelli, Alberto Molardi, Filippo Benassi, Alan Gallingani, Tiziano Gherli
World Journal of Cardiovascular Diseases (WJCD) , 2013, DOI: 10.4236/wjcd.2013.31A016
Abstract:

There is an increasing number of patients with mitral regurgitation secondary to dilated cardiomyopathy. Recent data suggest that mitral regurgitation (MR) can be surgically corrected in heart failure with symptomatic improvements and favourable reverse left ventricular remodeling. However, several questions remain to be answered, regarding the optimal management of functional mitral regurgitation, the correct timing of surgery and the choice of the surgical technique to perform in patients affected by dilated cardiomyopathy. In the setting of ischemic chronic cardiomyopathy, data derived from the recent literature suggest that concomitant severe ischemic MR should be addressed during CABG to improve survival and quality of life. Most surgeons perform concomitant CABG and mitral valve surgery in patients with ischemic chronic cardiomyopathy and moderate to severe MR. In the setting of chronic dilated cardiomyopathy, most clinicians would agree that correction of severe MR in heart failure is warranted, mostly due to a symptomatic benefit and reduction of number of re-hospitalizations. Moreover, reverse ventricular remodeling has been demonstrated with undersized annuloplasty rings and correction of MR: this could lead to improved contractility, reduction in left ventricular end-diastolic and end-systolic volumes, and finally to improved NYHA functional class. Recent large studies suggest that patients undergoing mitral valve repair had improved perioperative survival, shorter length of stay, and improved long-term survival than those undergoing mitral valve replacement because the preservation of the subvalvular apparatus seems to result in superior left ventricular remodelling and in greater improvement in NYHA class. In the near future, data from multi-institutional, randomized prospective trials will help to elucidate many of the questions and concerns regarding repair of severe functional mitral regurgitation. Finally, technology applied to heart surgery is continually evolving and will allow more exciting cellular and novel device therapies for the treatment of functional mitral regurgitation secondary to dilated cardiomyopathy.

Polymorphism of Beta2-Adrenoceptor and Regular Use of Formoterol in Asthma: Preliminary Results
Leonello Fuso,Alessandra Di Perna,Anna Longobardi,Andrea Trové,Michela Bisceglia,Benedetta F. Bibi,Carla Angelozzi,Francesco D. Tiziano,Raffaele Antonelli Incalzi
ISRN Pulmonology , 2013, DOI: 10.1155/2013/280843
Abstract: Polymorphism at codon 16 of the beta2-adrenoceptor (beta2-AR) affects the responsiveness to salmeterol in asthmatics. Data concerning formoterol are more controversial in the literature. The aim of this study was to verify whether homozygous for arginine-16 (ArgArg16) and homozygous for glycine-16 (GlyGly16) genotypes differently influence the long-term responsiveness to formoterol. Twenty-nine patients with mild-to-moderate asthma, in stable clinical conditions, underwent genotyping at codon 16 of the beta2-AR by RFLP-PCR assay. The effects of a 4-week monotherapy with formoterol (12?μg BID) were tested on the peak expiratory flow (PEF) variability and the forced expiratory volume in 1?sec (FEV1) slope of the dose-response curve to salbutamol. Variability in PEF significantly increased during the 4-week treatment period in 14 patients with GlyGly16, but not in 15 patients with ArgArg16 and ArgGly16 . The FEV1 slope of the dose-response curve to salbutamol decreased after the 4-week treatment period in GlyGly16, but not in pooled ArgArg16 and ArgGly16 patients. This study provides preliminary evidence that tolerance to formoterol develops more frequently in asthmatics with GlyGly16 genotype. If confirmed in a larger population, this finding might be useful in choosing the bronchodilator therapy on the basis of genetic polymorphism of the beta2-AR. 1. Introduction Genetic factors, mainly the polymorphism at codons 16 and 27 of the beta2-adrenoceptor (beta2-AR) on chromosome 5q31, are known to modulate the bronchodilatory effects of beta2-agonists [1, 2]. In vitro studies performed on peripheral lymphocytes have shown that asthmatics homozygous for glycine-16 (GlyGly16) are more prone to beta2-agonist-induced downregulation than either homozygous for arginine-16 (ArgArg16) or heterozygous (ArgGly16) [3]. Consistent with in vitro findings are the effects of the acute exposure of asthmatics to short-acting beta2-agonists (SABAs) [4, 5]. However, chronic exposure to SABAs or to the long-acting beta2-agonist (LABA) salmeterol resulted in greater desensitisation among ArgArg16 asthmatics [2, 6–9] and these patients are also exposed to an increased risk of exacerbations [10]. A study carried out in children with severe asthma exacerbation hospitalized in intensive care unit showed that patients with genotype GlyGly16 had a more rapid and intense response to therapy with inhaled salbutamol compared with patients with other genotypes [11]. Furthermore, GlyGly16 genotype protected from increase in responsiveness to methacholine during regular treatment with the
Remarks on the Harnak Inequality for Local-Minima of Scalar Integral Functionals with General Growth Conditions  [PDF]
Tiziano Granucci
Journal of Applied Mathematics and Physics (JAMP) , 2014, DOI: 10.4236/jamp.2014.25024
Abstract: In this paper we proof a Harnack inequality and a regularity theorem for local-minima of scalar intagral functionals with general growth conditions.
Experimental macroscopic coherence by phase-covariant cloning of a single photon
Eleonora Nagali,Tiziano De Angelis,Fabio Sciarrino,Francesco De Martini
Physics , 2007, DOI: 10.1103/PhysRevA.76.042126
Abstract: We investigate the multiphoton states generated by high-gain optical parametric amplification of a single injected photon, polarization encoded as a ''qubit''. The experiment configuration exploits the optimal phase-covariant cloning in the high gain regime. The interference fringe pattern showing the non local transfer of coherence between the injected qubit and the mesoscopic amplified output field involving up to 4000 photons has been investigated. A probabilistic new method to extract full information about the multiparticle output wavefunction has been implemented.
Experimental test of the no signaling theorem
Tiziano De Angelis,Francesco De Martini,Eleonora Nagali,Fabio Sciarrino
Physics , 2007, DOI: 10.1103/PhysRevLett.99.193601
Abstract: In 1981 N. Herbert proposed a gedanken experiment in order to achieve by the ''First Laser Amplified Superluminal Hookup'' (FLASH) a faster than light communication (FTL) by quantum nonlocality. The present work reports the first experimental realization of that proposal by the optical parametric amplification of a single photon belonging to an entangled EPR pair into an output field involving 5 x 10^3 photons. A thorough theoretical and experimental analysis explains in general and conclusive terms the precise reasons for the failure of the FLASH program as well as of any similar FTL proposals.
Reciprocity of weighted networks
Tiziano Squartini,Francesco Picciolo,Franco Ruzzenenti,Diego Garlaschelli
Computer Science , 2012, DOI: 10.1038/srep02729
Abstract: All types of networks arise as intricate combinations of dyadic building blocks formed by pairs of vertices. In directed networks, the dyadic patterns are entirely determined by reciprocity, i.e. the tendency to form, or to avoid, mutual links. Reciprocity has dramatic effects on every networks dynamical processes and the emergence of structures like motifs and communities. The binary reciprocity has been extensively studied: that of weighted networks is still poorly understood. We introduce a general approach to it, by defining quantities capturing the observed patterns (from dyad-specific to vertex-specific and network-wide) and introducing analytically solved models (Exponential Random Graphs-type). Counter-intuitively, the previous reciprocity measures based on the similarity of the mutual links-weights are uninformative. By contrast, our measures can classify different weighted networks, track the temporal evolution of a networks reciprocity, identify patterns. We show that in some networks the local reciprocity structure can be inferred from the global one.
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