Search

Your search keyword '"Milone R"' showing total 2 results
Start Over Author "Milone R" Database OpenAIRE
2 results on '"Milone R"'

1. Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Author

D'Amore, A. Tessa, A. Casali, C. Dotti, M.T. Filla, A. Silvestri, G. Antenora, A. Astrea, G. Barghigiani, M. Battini, R. Battisti, C. Bruno, I. Cereda, C. Dato, C. Di Iorio, G. Donadio, V. Felicori, M. Fini, N. Fiorillo, C. Gallone, S. Gemignani, F. Gigli, G.L. Graziano, C. Guerrini, R. Gurrieri, F. Kariminejad, A. Lieto, M. Marques LourenḈo, C. Malandrini, A. Mandich, P. Marcotulli, C. Mari, F. Massacesi, L. Melone, M.A.B. Mignarri, A. Milone, R. Musumeci, O. Pegoraro, E. Perna, A. Petrucci, A. Pini, A. Pochiero, F. Pons, M.R. Ricca, I. Rossi, S. Seri, M. Stanzial, F. Tinelli, F. Toscano, A. Valente, M. Federico, A. Rubegni, A. Santorelli, F.M.

Abstract

Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss of corticospinal motor tract function, lower limb spasticity, and weakness. Recent clinical use of next generation sequencing (NGS) methodologies suggests that they facilitate the diagnostic approach to HSP, but the power of NGS as a first-tier diagnostic procedure is unclear. The larger-than-expected genetic heterogeneity—there are over 80 potential disease-associated genes—and frequent overlap with other clinical conditions affecting the motor system make a molecular diagnosis in HSP cumbersome and time consuming. In a single-center, cross-sectional study, spanning 4 years, 239 subjects with a clinical diagnosis of HSP underwent molecular screening of a large set of genes, using two different customized NGS panels. The latest version of our targeted sequencing panel (SpastiSure3.0) comprises 118 genes known to be associated with HSP. Using an in-house validated bioinformatics pipeline and several in silico tools to predict mutation pathogenicity, we obtained a positive diagnostic yield of 29% (70/239), whereas variants of unknown significance (VUS) were found in 86 patients (36%), and 83 cases remained unsolved. This study is among the largest screenings of consecutive HSP index cases enrolled in real-life clinical-diagnostic settings. Its results corroborate NGS as a modern, first-step procedure for molecular diagnosis of HSP. It also disclosed a significant number of new mutations in ultra-rare genes, expanding the clinical spectrum, and genetic landscape of HSP, at least in Italy. © Copyright © 2018 D'Amore, Tessa, Casali, Dotti, Filla, Silvestri, Antenora, Astrea, Barghigiani, Battini, Battisti, Bruno, Cereda, Dato, Di Iorio, Donadio, Felicori, Fini, Fiorillo, Gallone, Gemignani, Gigli, Graziano, Guerrini, Gurrieri, Kariminejad, Lieto, Marques LourenḈo, Malandrini, Mandich, Marcotulli, Mari, Massacesi, Melone, Mignarri, Milone, Musumeci, Pegoraro, Perna, Petrucci, Pini, Pochiero, Pons, Ricca, Rossi, Seri, Stanzial, Tinelli, Toscano, Valente, Federico, Rubegni and Santorelli.

Published
2018

2. Antilymphocyte Globulin for Prevention of Chronic Graft-versus-Host Disease

Author

Fabio Benedetti, Angelo Michele Carella, Michele Cimminiello, Elisabetta Terruzzi, Jaime Pérez De Oteiza, Kröger N, Francesca Bonifazi, Nicola Mordini, Rafael F. Duarte, Jorge Sierra, Jürgen Finke, Francesca Patriarca, Christine Wolschke, Carlos Solano, Franco Narni, Antonio M. Risitano, Domenico Pastore, Wolfgang Bethge, Francis Ayuk, Mario Petrini, Carmine Selleri, Tapani Ruutu, Giuseppe Messina, Arnon Nagler, Andreas Völp, Christelle Ferra, Marion Heinzelmann, Massimo Pini, Giuseppe Bandini, Manuel Jurado, Giuseppe Milone, Domenico Russo, Stefano Guidi, [Kröge,N, Wolschke ,C, Heinzelmann,M, Ayuk,F ] University Medical Center Hamburg-Eppendorf,Hamburg, Germany. [Finke,J] University Hospital Freiburg, Freiburg ,Germany. [Bethge,W] University Hospital Tübingen, Tübingen, Germany. [Völp,A] Psy Consult, Frankfurt, Germany. [Solano,C] Hospital Clinico Universitario, Valencia, Spain. [Pérez de Oteiza,J] Hospital Ramon y Cajal, Madrid, Spain. [Duarte,R] Hospital Universitario Puerta de Hierro Majadahonda, Madrid, Spain. [Ferra,C] Servicio de Hematología, Institut Català d’Oncologia, Hospital Universitari Germans Trias i Pujol, Badalona, Spain. [Sierra,J] Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. [Jurado,M] Hospital Virgen de las Nieves, Granada, Spain. [Bandini,G, Bonifaz,F] Orsola-Malpighi University Hospital, University of Bologna, Bologna, Italy. [Patriarca,F] Hematology, DISM, University Udine, Udine. Azienda Ospedaliera SS Antonio e Biagio e C. Arrigo, Alessandria, Italy. [Pini,M] Università Federico II di Napoli, Naples, Italy. [Selleri,C, Risitano,A) A.O. Bianchi-Melacrino-Morelli, Reggio Calabria, Italy. [Messina,G] Ospedale Casa Sollievo della Sofferenza IRCCCS, San Giovanni Rotondo, Italy. [Carella,AM] Azienda Ospedaliera San Carlo, Potenza, Italy. [Cimminiello,M] Azienda Ospedaliera Careggi, Florence, Italy. [Guido,E] Ospedale Santa Croce, e Carle, Cuneo, Italy. [Mordini,N] University of Brescia, Department of Clinical and Experimental Sciences, Brescia, Italy. [Russo,D] University of Pisa, Department of Clinical and Experimental Medicine, Pisa, Italy. [Petrini,M] Programma di Trapianto Emopoietico Metropolitano, Azienda Policlinico-Vittorio Emanuele, Catania, Italy. [Milone,R] Policlinico G.B. Rossi, Verona, Italy. [Benedetti,F] Azienda Ospedaliera, Universitaria Ospedale, Bari, Italy. [Pastore,D] Ospedale San Gerardo, Monza, Italy. [Terruzzi,E] Policlinico Modena, Modena, Italy. [Narni,F] Università di Salerno, Salerno, Italy. [Nagler,A] Chaim Sheba Medical Center, Tel Hashomer, Ramat-Gan, Israel. [Tapani,R] Helsinki University Hospital, Helsinki., Supported by a research grant from Neovii Biotech and by the European Society for Blood and Marrow Transplantation (EBMT) as an EBMT-labeled-study of the Chronic Malignancies Working Party., Kröger, Nicolau, Solano, Carlo, Wolschke, Christine, Bandini, Giuseppe, Patriarca, Francesca, Pini, Massimo, Nagler, Arnon, Selleri, Carmine, Risitano, ANTONIO MARIA, Messina, Giuseppe, Bethge, Wolfgang, De Oteiza, Jaime Pérez, Duarte, Rafael, Carella, Angelo Michele, Cimminiello, Michele, Guidi, Stefano, Finke, Jürgen, Mordini, Nicola, Ferra, Christelle, Sierra, Jorge, Russo, Domenico, Petrini, Mario, Milone, Giuseppe, Benedetti, Fabio, Heinzelmann, Marion, Pastore, Domenico, Jurado, Manuel, Terruzzi, Elisabetta, Narni, Franco, Völp, Andrea, Ayuk, Franci, Ruutu, Tapani, and Bonifazi, Francesca

Subjects
Male, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Models, Statistical::Proportional Hazards Models [Medical Subject Headings], T-Lymphocytes, Phases of clinical research, Graft vs Host Disease, Named Groups::Persons::Age Groups::Adult::Middle Aged [Medical Subject Headings], Linfocitos t, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Immunosuppressive Agent, 0302 clinical medicine, Trasplante homólogo, Estudios prospectivos, Medicine, Cumulative incidence, Prospective Studies, Prospective cohort study, Child, Transplantation, Homologou, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Blood Proteins::Immunoproteins::Immunoglobulins::Antibodies::Immune Sera::Antilymphocyte Serum [Medical Subject Headings], Acute leukemia, Anatomy::Cells::Blood Cells::Leukocytes::Leukocytes, Mononuclear::Lymphocytes::T-Lymphocytes [Medical Subject Headings], Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Chronic Disease [Medical Subject Headings], Named Groups::Persons::Age Groups::Child::Child, Preschool [Medical Subject Headings], Medicine (all), Incidence, Suero antilinfocítico, General Medicine, Middle Aged, Modelos de riesgos proporcionales, 3. Good health, Humanos, Survival Rate, 030220 oncology & carcinogenesis, Named Groups::Persons::Age Groups::Adolescent [Medical Subject Headings], Child, Preschool, Female, Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Physiological Effects of Drugs::Immunologic Factors::Immunosuppressive Agents [Medical Subject Headings], Immunosuppressive Agents, Human, Homologous, Adult, medicine.medical_specialty, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies::Longitudinal Studies::Prospective Studies [Medical Subject Headings], Named Groups::Persons::Age Groups::Adult::Young Adult [Medical Subject Headings], Adolescent, Enfermedad injerto contra huésped, Disease-Free Survival, 03 medical and health sciences, Young Adult, Internal medicine, Named Groups::Persons::Age Groups::Adult [Medical Subject Headings], Humans, Transplantation, Homologous, Supervivencia sin enfermedad, Preschool, Survival rate, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Prognosis::Disease-Free Survival [Medical Subject Headings], Named Groups::Persons::Age Groups::Child [Medical Subject Headings], Antilymphocyte Serum, Proportional Hazards Models, Transplantation, business.industry, Enfermedad crónica, medicine.disease, Inmunosupresores, Anti-thymocyte globulin, Surgery, Diseases::Immune System Diseases::Graft vs Host Disease [Medical Subject Headings], Prospective Studie, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Surgical Procedures, Operative::Transplantation::Transplantation, Homologous [Medical Subject Headings], Graft-versus-host disease, T-Lymphocyte, Check Tags::Female [Medical Subject Headings], Chronic Disease, Proportional Hazards Model, business, 030215 immunology
Abstract

Clinical Trial, Phase III; Journal Article; Multicenter Study; Randomized Controlled Trial; Research Support, Non-U.S. Gov't; BACKGROUND Chronic graft-versus-host disease (GVHD) is the leading cause of later illness and death after allogeneic hematopoietic stem-cell transplantation. We hypothesized that the inclusion of antihuman T-lymphocyte immune globulin (ATG) in a myeloablative conditioning regimen for patients with acute leukemia would result in a significant reduction in chronic GVHD 2 years after allogeneic peripheral-blood stem-cell transplantation from an HLA-identical sibling. METHODS We conducted a prospective, multicenter, open-label, randomized phase 3 study of ATG as part of a conditioning regimen. A total of 168 patients were enrolled at 27 centers. Patients were randomly assigned in a 1:1 ratio to receive ATG or not receive ATG, with stratification according to center and risk of disease. RESULTS After a median follow-up of 24 months, the cumulative incidence of chronic GVHD was 32.2% (95% confidence interval [CI], 22.1 to 46.7) in the ATG group and 68.7% (95% CI, 58.4 to 80.7) in the non-ATG group (P

Published
2016

Catalog

Books, media, physical & digital resources
See catalog results