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Artigo Acesso aberto Revisado por pares

Alessandro Antonelli, Selene Barone, Ferdinando Attanasio, Marianna Salviati, Maria Giulia Cerra, Elena Calabria, Francesco Bennardo, Amerigo Giudice,

Background: Macro-geometry and surgical implant site preparation are two of the main factors influencing implant stability and potentially determining loading protocol. The purpose of this study was to assess the initial stability of various implant macro-designs using both magnetodynamic and traditional osteotomy techniques in low-density bone. The parameters examined included peak insertion torque (PIT), implant stability quotient (ISQ), and peak removal torque (PRT). Methods: Four groups of 34 implants ...

Tópico(s): Bone Tissue Engineering Materials

2023 - Multidisciplinary Digital Publishing Institute | Dentistry Journal

Primary Document Acesso aberto

Corsi Salviati, Francesco Antonio, Gianni, Francesco Maria,

According to a manuscript note on p. [1], the author is supposed to be Corsi Salviati. In response to Gianni's Un discorso sul debito pubblico. Book.

0000 - Gale Group | The Making of Modern World

Carta Acesso aberto Revisado por pares

Emanuele Panza, Juan Manuel Escamilla, Clara Marco‐Marín, Nadine Gougeard, Giuseppe De Michele, Vincenzo Brescia Morra, Rocco Liguori, Leonardo Salviati, Maria Alice Donati, Roberto Cusano, Tommaso Pippucci, Roberto Ravazzolo, Andrea H. Németh, Sarah Smithson, Sally Davies, Jane A. Hurst, Domenico Bordo, Vicente Rubio, Marco Seri,

Sir, We have read with great interest the article published recently in Brain by Coutelier et al. (2015) ‘Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia’. In support of the message of this paper, we would like to report that mutations in ALDH18A1 , the causative gene in Coutelier’s paper, are the cause of SPG9 (MIM#601162), a rare form of autosomal dominant hereditary spastic paraplegia (HSP) complicated with vomiting and congenital bilateral cataracts ...

Tópico(s): Endoplasmic Reticulum Stress and Disease

2015 - Oxford University Press | Brain

Artigo Revisado por pares

Alberto Gajofatto, Ambra Stefani, Marco Turatti, M. R. Bianchi, M. Gomez Lira, G. Moretto, Alessandro Salviati, Maria Donata Benedetti,

Background and purpose Recent multiple sclerosis ( MS ) prevalence studies classify Italy as a high‐risk area without intra‐regional latitude effect. Objectives To determine MS prevalence in Verona, Italy, and frequency of myelin oligodendrocyte glycoprotein ( MOG ) gene G511C polymorphism and HLA ‐ DRB 1*15 locus in a sample of cases and healthy controls. Methods The study area population on the prevalence date (31 December 2001) was 253 208 (133 508 women, 119 700 men). Multiple case sources were examined. ...

Tópico(s): Systemic Lupus Erythematosus Research

2012 - Wiley | European Journal of Neurology

Artigo Acesso aberto Revisado por pares

Eva Trevisson, Leonardo Salviati, Maria Cristina Baldoin, Irene Toldo, Alberto Casarin, Sabrina Sacconi, Luca Cesaro, Giuseppe Basso, Alberto Burlina,

Argininosuccinic aciduria (ASAuria) is an inborn error of metabolism caused by mutations in the argininosuccinate lyase (ASL) gene, which leads to the accumulation of argininosuccinic acid (ASA) in body fluids and severe hyperammonemia. A severe neonatal form and a milder late-onset variant are described. We report a novel ASL pseudogene located in the centromeric region of chromosome 7, 14 novel mutations in the ASL gene, and a novel intronic polymorphism found in a cohort of Italian patients. Our ...

Tópico(s): Neonatal Health and Biochemistry

2007 - Wiley | Human Mutation

Artigo Acesso aberto Revisado por pares

Gabrielle Langdon,

... l’on croyait être, depuis 1940, celui de Maria Salviati et son fils Cosimo serait plutôt celui de ... fille, les signes de la maladie qui emportèrent Maria Salviati et les circonstances de la commande permettent d’ ... pour le titre de Cosimo. La représentation de Maria Salviati vient probablement du portrait Castello (perdu) de Pontormo ...

Tópico(s): Historical Studies on Reproduction, Gender, Health, and Societal Changes

2020 - | RACAR Revue d art canadienne

Artigo Acesso aberto Revisado por pares

Gino Fornaciari, Pietro Bartolozzi, Carlo Bartolozzi, Barbara Rossi, I. Menchi, Andrea Piccioli,

... results. The tomb of Giovanni and his wife Maria Salviati was explored and the skeletal remains were investigated. ...

Tópico(s): History of Medicine Studies

2014 - BioMed Central | BMC Musculoskeletal Disorders

Artigo Revisado por pares

D. P. Chambers,

... Tomas writes about two powerful women, Lucrezia and Maria Salviati; on his earlier political experience governing Florence, Patricia ...

Tópico(s): Historical Studies of British Isles

2006 - Oxford University Press | The English Historical Review

Artigo Revisado por pares

Stefano Sartori, Kathrin Ludwig, Manuela Fortuna, Cinzia Marzocchi, Milena Calderone, Irene Toldo, Leonardo Salviati, Anna Maria Laverda, Romano Tenconi,

Joubert syndrome is a disorder characterized by ataxia, developmental delay, oculomotor anomalies, and breathing irregularities, with cerebellar vermian and midbrain dysgenesis. The molar tooth sign, reflecting the midbrain dysgenesis of Joubert syndrome, is the neuroradiological hallmark and is an essential sign in the identification of this condition. Variable vermian agenesis, an expanded fourth ventricle, and a large posterior cranial fossa with a normal brainstem are typical of Dandy-Walker ...

Tópico(s): Prenatal Screening and Diagnostics

2010 - SAGE Publishing | Journal of Child Neurology

Artigo Acesso aberto Revisado por pares

Alessandro Mattè, Enrica Federti, Charles Kung, Penelope A. Kosinski, Rohini Narayanaswamy, Roberta Russo, Giorgia Federico, Francesca Carlomagno, María Andrea Desbats, Leonardo Salviati, Christophe Lebœuf, Maria Teresa Valenti, Francesco Turrini, Anne Janin, Shaoxia Yu, Elisabetta Beneduce, Sébastien Ronseaux, Iana Iatcenko, Lenny Dang, Tomas Ganz, Chun‐Ling Jung, Achille Iolascon, Carlo Brugnara, Lucia De Franceschi,

Anemia in β-thalassemia is related to ineffective erythropoiesis and reduced red cell survival. Excess free heme and accumulation of unpaired α-globin chains impose substantial oxidative stress on β-thalassemic erythroblasts and erythrocytes, impacting cell metabolism. We hypothesized that increased pyruvate kinase activity induced by mitapivat (AG-348) in the Hbbth3/+ mouse model for β-thalassemia would reduce chronic hemolysis and ineffective erythropoiesis through stimulation of red cell glycolytic ...

Tópico(s): Erythropoietin and Anemia Treatment

2021 - American Society for Clinical Investigation | Journal of Clinical Investigation

Artigo Revisado por pares

Maria Donata Benedetti, Alessandro Salviati, S. Filipponi, Maria Grazia Manfredi, Lucrezia Togni, Macarena Gomez‐Lira, Gianola Stenta, E. Fincati, M. Pampanin, N. Rizzuto, G. Danti,

We investigated the prevalence of dementia and the apolipoprotein E (APOE) genotype distribution in the elderly of Buttapietra, a village near Verona, Italy. All residents over the age of 74 (n = 238), including those who were institutionalized, were studied using a direct-contact, single-phase design. The overall prevalence of dementia, clinically defined by DSM-III-R criteria, was 15.8 cases per 100 population, with age-specific figures increasing steeply with advancing age in both sexes. Alzheimer' ...

Tópico(s): Alzheimer's disease research and treatments

2002 - Karger Publishers | Neuroepidemiology

Artigo Acesso aberto Revisado por pares

Benedetta Ghezzi, Paola Lagonegro, Naoki Fukata, Ludovica Parisi, Davide Calestani, Carlo Galli, G. Salviati, Guido Maria Macaluso, Francesca Rossi,

Surface topography is one of the main factors controlling cell responses on implanted devices and a proper definition of the characteristics that optimize cell behavior may be crucial to improve the clinical performances of these implants. Substrate geometry is known to affect cell shape, as cells try to optimize their adhesion by adapting to the irregularities beneath, and this in turn profoundly affects their activity. In the present study, we cultured murine calvaria MC3T3-E1 cells on surfaces ...

Tópico(s): Bone Tissue Engineering Materials

2019 - Multidisciplinary Digital Publishing Institute | Nanomaterials

Artigo Revisado por pares

Roberto Delle Chiaie, Gino Iannucci, Marino Paroli, Massimo Salviati, Maria Caredda, Massimo Pasquini, Massimo Biondi,

Clinicians generally agree on the association between depression and hypertension. Less clear is if the nature of the link is direct or indirect and if this should be considered confined only to syndromal forms or if it concerns also subsyndromal affective presentations. This study investigated the nature of the association between hypertension and subsyndromal depression in hospitalized hypertensive patients. 196 hypertensive and 96 non hypertensive inpatients underwent a SCID interview, to exclude ...

Tópico(s): Anxiety, Depression, Psychometrics, Treatment, Cognitive Processes

2011 - Elsevier BV | Journal of Affective Disorders

Artigo Revisado por pares

Leonardo Salviati, Anna Maria Laverda, Lucia Zancan, Francesco Mari, C. Angelini, Marija Meznarič,

Acute quadriplegic myopathy is a rare condition associated with the use of nondepolarizing muscle-blocking agents and corticosteroids in the course of severe systemic illness. A 17-month-old boy underwent liver transplantation for fulminant hepatitis. He was intubated for 24 days and treated with vecuronium bromide and high-dose methylprednisolone. The child was weaned from the ventilator and presented extreme weakness in the upper limbs and total paralysis of the lower limbs. Serum creatine kinase ...

Tópico(s): Genetic Neurodegenerative Diseases

2000 - SAGE Publishing | Journal of Child Neurology

Artigo Acesso aberto Revisado por pares

Antonio Fornaciari, Raffaele Gaeta, Simona Minozzi, Valentina Giuffra,

... Pisa, Italy) exhumed the well-preserved skeleton of Maria Salviati (1499–1543), wife of Giovanni de’ Medici, named “ ... for syphilis. An ancient diagnosis of syphilis for Maria Salviati does not emerge from the historical sources, although ... hemorrhages, caused by syphilitic infection. The case of Maria Salviati can be compared with those of other famous Italian noblewomen of the Renaissance, such as Isabella of Aragon (1470–1524) and Maria of Aragon (1503–1568). Paleopathology made it possible ...

Tópico(s): Female Genital Mutilation/Cutting Issues

2020 - Centers for Disease Control and Prevention | Emerging infectious diseases

Artigo Acesso aberto Revisado por pares

Elvezia Maria Paraboschi, Valeria Rimoldi, Giulia Soldà, Tommaso Tabaglio, C. Dall’Osso, Elena Saba, Marco Vigliano, Alessandro Salviati, Maurizio Leone, Maria Donata Benedetti, Diego Fornasari, Janna Saarela, Philip L. De Jager, Nikolaos A. Patsopoulos, Sandra D’Alfonso, Donato Gemmati, Stefano Duga, Rosanna Asselta,

The protein kinase C alpha (PRKCA) gene, encoding a Th17-cell-selective kinase, was repeatedly associated with multiple sclerosis (MS), but the underlying pathogenic mechanism remains unknown. We replicated the association in Italians (409 cases, 723 controls), identifying a protective signal in the PRKCA promoter (P = 0.033), and a risk haplotype in intron 3 (P = 7.7 × 10(-4); meta-analysis with previously published data: P = 4.01 × 10(-8)). Expression experiments demonstrated that the protective signal is associated ...

Tópico(s): T-cell and B-cell Immunology

2014 - Oxford University Press | Human Molecular Genetics

Artigo Revisado por pares

Massimo Ralli, G Altissimi, Rosaria Turchetta, Filippo Mazzei, Massimo Salviati, Francesca Cianfrone, Maria Patrizia Orlando, Valeria Testugini, Giancarlo Cianfrone,

In a subpopulation of patients, tinnitus can be modulated by movements of the jaw or head and neck due to complex somatosensory-auditory interactions. In some of these subjects, tinnitus could be related to an underlying temporomandibular (TMJ) or craniocervical (NECK) dysfunction that, if correctly identified, could streamline treatment and increase chances of tinnitus improvement. However, it is still unclear whether somatic modulation of tinnitus could be used as a screening tool for identifying ...

Tópico(s): Ear Surgery and Otitis Media

2016 - Karger Publishers | Audiology and Neurotology

Revisão Revisado por pares

Giancarlo Cianfrone, Filippo Mazzei, Massimo Salviati, Rosaria Turchetta, Maria Patrizia Orlando, Valeria Testugini, Laura Carchiolo, Francesca Cianfrone, G Altissimi,

Objective: One of the most debated topics in tinnitus is its standard and practical classification. The most popular classification distinguishes subjective from objective tinnitus. Other classifications are based on different features. On the whole, they seem incomplete, and the diagnostic and therapeutic algorithms are often difficult for practical purposes. The aim of this work is to develop a new diagnostic and therapeutic algorithm. Methods: Our model is based on 10 years of experience. In ...

Tópico(s): Multisensory perception and integration

2015 - SAGE Publishing | Annals of Otology Rhinology & Laryngology

Artigo Acesso aberto Revisado por pares

Leonardo Salviati, Eva Trevisson, María Hernández, Alberto Casarin, Vanessa Pertegato, Mara Doimo, Matteo Cassina, Caterina Agosto, María Andrea Desbats, Geppo Sartori, Sabrina Sacconi, Luigi Memo, Orsetta Zuffardi, Rafael Artuch, Catarina M. Quinzii, Salvatore DiMauro, Michio Hirano, Carlos Santos–Ocaña, Plácido Navas,

Background COQ4 encodes a protein that organises the multienzyme complex for the synthesis of coenzyme Q 10 (CoQ 10 ). A 3.9 Mb deletion of chromosome 9q34.13 was identified in a 3-year-old boy with mental retardation, encephalomyopathy and dysmorphic features. Because the deletion encompassed COQ4, the patient was screened for CoQ 10 deficiency. Methods A complete molecular and biochemical characterisation of the patient9s fibroblasts and of a yeast model were performed. Results The study found reduced COQ4 ...

Tópico(s): Advanced battery technologies research

2012 - BMJ | Journal of Medical Genetics

Artigo Revisado por pares

Cinzia Bertolin, Francesca Boaretto, Giovanni Barbon, Leonardo Salviati, Elisabetta Lapi, Maria Teresa Divizia, Livia Garavelli, Gianluca Occhi, Giovanni Vazza, Maria Luisa Mostacciuolo,

X-linked hydrocephalus, MASA syndrome, X-linked complicated Spastic Paraplegia Type I and X-linked partial agenesis of the corpus callosum are the four rare diseases usually referred to L1 syndrome, caused by mutations in the L1CAM gene. By direct sequencing of L1CAM in 16 patients, we were able to identify seven mutations, five of which were never described before. Patients' phenotype evaluation revealed a correlation between the number of clinical features typical of L1 syndrome and the chance ...

Tópico(s): Caveolin-1 and cellular processes

2010 - Elsevier BV | Journal of the Neurological Sciences

Artigo Acesso aberto Revisado por pares

Ricardo Sánchez‐Rodríguez, Caterina Tezze, Andrielly H.R. Agnellini, Roberta Angioni, Francisca C. Venegas, Chiara Cioccarelli, Fabio Munari, Nicole Bertoldi, Marcella Canton, María Andrea Desbats, Leonardo Salviati, Rosanna Gissi, Alessandra Castegna, María Eugenia Soriano, Marco Sandri, Luca Scorrano, Antonella Viola, Barbara Molon,

Abstract Macrophages are essential players for the host response against pathogens, regulation of inflammation and tissue regeneration. The wide range of macrophage functions rely on their heterogeneity and plasticity that enable a dynamic adaptation of their responses according to the surrounding environmental cues. Recent studies suggest that metabolism provides synergistic support for macrophage activation and elicitation of desirable immune responses; however, the metabolic pathways orchestrating ...

Tópico(s): Tryptophan and brain disorders

2022 - Springer Nature | Cell Death and Differentiation

Artigo Acesso aberto Revisado por pares

Laura Marongiu, Giulia Protti, Fabio A. Facchini, Mihai Valache, Francesca Mingozzi, Valeria Ranzani, Anna Rita Putignano, Lorenzo Salviati, Valeria Bevilacqua, Serena Maria Curti, Mariacristina Crosti, Maria Lucia Sarnicola, Mariella D’Angiò, Laura Rachele Bettini, Andrea Biondi, Luca Nespoli, Nicolò Tamini, Nicola Clementi, Nicasio Mancini, Sergio Abrignani, Roberto Spreafico, Francesca Granucci,

Abstract Growing evidence suggests that conventional dendritic cells (cDCs) undergo aberrant maturation in COVID‐19, which negatively affects T‐cell activation. The presence of effector T cells in patients with mild disease and dysfunctional T cells in severely ill patients suggests that adequate T‐cell responses limit disease severity. Understanding how cDCs cope with SARS‐CoV‐2 can help elucidate how protective immune responses are generated. Here, we report that cDC2 subtypes exhibit similar infection‐ ...

Tópico(s): Immune responses and vaccinations

2021 - Wiley | European Journal of Immunology

Artigo Acesso aberto Revisado por pares

Raquel Montero, Manuela Grazina, Ester López‐Gallardo, Julio Montoya, Paz Briones, Aleix Navarro‐Sastre, John M. Land, Iain P. Hargreaves, Rafael Artuch, María del Mar O’Callaghan, Cristina Jou, C. Jiménez-Mallebrera, Núria Bujan, Mercè Pineda, Àngels García‐Cazorla, A. Nascimento, Belén Pérez‐Dueñas, Eduardo Ruiz‐Pesini, Carl Fratter, Leonardo Salviati, Marta Simões, Cândida Mendes, Maria João Santos, Luísa Diogo, Paula Garcia, Plácido Navas,

We evaluated coenzyme Q10 (CoQ) levels in patients studied under suspicion of mitochondrial DNA depletion syndromes (MDS) (n = 39). CoQ levels were quantified by HPLC, and the percentage of mtDNA depletion by quantitative real-time PCR. A high percentage of MDS patients presented with CoQ deficiency as compared to other mitochondrial patients (Mann–Whitney-U test: p = 0.001). Our findings suggest that MDS are frequently associated with CoQ deficiency, as a possible secondary consequence of disease pathophysiology. ...

Tópico(s): Mitochondrial Function and Pathology

2013 - Elsevier BV | Mitochondrion

Artigo Acesso aberto Revisado por pares

Valentina Grosso, Luca Marcolungo, Simone Maestri, Massimiliano Alfano, Denise Lavezzari, Barbara Iadarola, Alessandro Salviati, Barbara Mariotti, Annalisa Botta, Maria Rosaria D’Apice, Giuseppe Novelli, Massimo Delledonne, Marzia Rossato,

Traditional methods for the analysis of repeat expansions, which underlie genetic disorders, such as fragile X syndrome (FXS), lack single-nucleotide resolution in repeat analysis and the ability to characterize causative variants outside the repeat array. These drawbacks can be overcome by long-read and short-read sequencing, respectively. However, the routine application of next-generation sequencing in the clinic requires target enrichment, and none of the available methods allows parallel analysis ...

Tópico(s): Genomic variations and chromosomal abnormalities

2021 - Frontiers Media | Frontiers in Genetics

Artigo Acesso aberto Revisado por pares

Doriana Borgia, Adriana Malena, Marco Spinazzi, María Andrea Desbats, Leonardo Salviati, Aaron P. Russell, Giovanni Miotto, Laura Tosatto, Elena Pegoraro, Gianni Sorarù, Maria Pennuto, Lodovica Vergani,

Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder caused by polyglutamine expansion in the androgen receptor (AR) and characterized by the loss of lower motor neurons. Here we investigated pathological processes occurring in muscle biopsy specimens derived from SBMA patients and, as controls, age-matched healthy subjects and patients suffering from amyotrophic lateral sclerosis (ALS) and neurogenic atrophy. We detected atrophic fibers in the muscle of SBMA, ALS and neurogenic atrophy ...

Tópico(s): Neurogenetic and Muscular Disorders Research

2017 - Oxford University Press | Human Molecular Genetics

Artigo Acesso aberto Revisado por pares

José María López‐Martín, Leonardo Salviati, Eva Trevisson, Giovanni Montini, Salvatore DiMauro, Catarina M. Quinzii, Michio Hirano, María Hernández, Mario D. Cordero, José A. Sánchez‐Alcázar, Carlos Santos–Ocaña, Plácido Navas,

Coenzyme Q10 (CoQ10) deficiency has been associated with an increasing number of clinical phenotypes that respond to CoQ10 supplementation. In two siblings with encephalomyopathy, nephropathy and severe CoQ10 deficiency, a homozygous mutation was identified in the CoQ10 biosynthesis gene COQ2, encoding polyprenyl-pHB transferase. To confirm the pathogenicity of this mutation, we have demonstrated that human wild-type, but not mutant COQ2, functionally complements COQ2 defective yeast. In addition, ...

Tópico(s): Vitamin C and Antioxidants Research

2007 - Oxford University Press | Human Molecular Genetics

Artigo Acesso aberto Revisado por pares

Elena Calabria, Alessandro Antonelli, Selene Barone, Daniela Adamo, Marianna Salviati, Maria Giulia Cerra, Francesco Bennardo, Amerigo Giudice,

In the present case-control study, the impact of medication-related osteonecrosis of the jaws (MRONJ) on patients' oral health-related quality of life (OHRQoL), overall quality of life (QoL), and psychological status was evaluated using a set of questionnaires. These questionnaires included the Oral Health Impact Profile-14 (OHIP-14), the Short Form 36 Health Survey Questionnaire (SF-36), and the hospital anxiety and depression scale (HADS). A total of 25 MRONJ patients and 25 controls were included in ...

Tópico(s): Oral health in cancer treatment

2023 - Multidisciplinary Digital Publishing Institute | Dentistry Journal

Artigo Revisado por pares

Stefano Sartori, Alberto Burlina, Leonardo Salviati, Eva Trevisson, Irene Toldo, Anna Maria Laverda, Alessandro P. Burlina,

Autosomal recessive Pelizaeus-Merzbacher-like disease 1 (PMLD1) is a hypomyelinating disorder of the central nervous system (CNS) with virtually identical phenotype to Pelizaeus-Merzbacher disease (PMD). PMLD1 is caused by mutations in GJA12 gene, PMD is due to mutations in PLP1 gene. Elevated levels of N-acetylaspartylglutamate (NAAG), the most abundant peptide neuromodulator in the human brain, have been recently reported in cerebral spinal fluid (CSF) of patients with PMD. Using capillary electrophoresis, ...

Tópico(s): Neonatal and fetal brain pathology

2007 - Elsevier BV | European Journal of Paediatric Neurology