Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders

Authors: Alberto A. Zambon, Daniele Ghezzi, Cristina Baldoli, Gianni Cutillo, Katia Fontana, Valentina Sofia, Maria Grazia Patricelli, Alessia Nasca, Stefano Vinci, Ivana Spiga, Eleonora Lamantea, Giovanna F. Fanelli, Maria Grazia Natali Sora, Rosanna Rovelli, Antonella Poloniato, Paola Carrera, Massimo Filippi, Graziano Barera

Source: Annals of Clinical and Translational Neurology, Vol 10, Iss 10, Pp 1844-1853 (2023)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2328-9503

Access URL: https://doaj.org/article/439d872073f24f368bf348072bff3b08

Ultrasound Diagnosis of Clavicle Fractures in Newborns: A Systematic Review

Authors: Luca Galimberti, Gisella Garbetta, Antonella Poloniato, Rosanna Rovelli, Graziano Barera, Nicola Guindani, Maurizio De Pellegrin

Source: Children, Vol 11, Iss 9, p 1080 (2024)

Subject Terms: clavicle fractures, newborns, neonatal injuries, birth injuries, sonography, ultrasound, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.mdpi.com/2227-9067/11/9/1080; https://doaj.org/toc/2227-9067

Access URL: https://doaj.org/article/ad45ab752d0b4d39bf46d064e053eb68

Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring

Authors: Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Cecilia Parazzini, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Luigina Spaccini, Maria Iascone, Elvira Verduci, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group, Gianluca Lista, Paola Fontana, Tiziana Varisco, Olivia Casati, Alberto Fabio Podestà, Maddalena Gibelli, Stefano Martinelli, Roberta Restelli, Laura Maria Pogliani, Roberta Agistri, Marco Giuseppe Nedbal, Paolo Vaglia, Chryssoula Tzialla, Luisa Magnani, Elena Sala, Laura Lorioli, Giuseppe Banderali, Diana Ghisleni, Bruno Drera, Marta Frittoli, Francesca Lizzoli, Marta Bellini, Paola Bruni, Ilaria Giulini, Valentina Benedetti, Valentina Polimeni, Nadia Salvoni, Masotina Raffaele, Cristina Bellan, Roberto Bottino, Graziano Barera, Antonella Poloniato, Marta Odoni, Ilaria Dalla Verde, Massimo Agosti, Angela Bossi, Anna Tosi, Anna Elisabetta Bussolini, Francesco Maria Risso, Vania Spinoni, Nicola Altamura, Patrizia Ballista, Silvia Di Chio, Luciana Pagani, Lidia Decembrino, Michela Grignani, Grazia Morandi, Valeria Angela Fasolato, Lorella Rossi, Emilio Palumbo, Alessandro Lepore, Maria Forestieri, Stefano Ghirardello, Elisa Civardi, Paolo Adamoli, Roberta Giacchero, Giovanni Traina, Patrizia Calzi, Fenesia Pedace, Marco Sala

Source: Frontiers in Neurology, Vol 15 (2024)

Subject Terms: X-ALD, X-linked adrenoleukodystrophy (X-ALD), Zellweger Spectrum Disorders, Aicardi-Goutières syndrome (AGS), hematopoietic stem cell transplantation (HCST), newborn screening (NBS), Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1376447/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/3fe63f5679824882a78a685fa671eea6

S250: UNVEILING THE BIOLOGICAL ROLE OF PERIPHERAL BLOOD HUMAN CIRCULATING HEMATOPOIETIC STEM AND PROGENITOR CELLS

Authors: Pamela Quaranta, Luca Basso-Ricci, Raisa Jofra Hernandez, Matteo Maria Naldini, Matteo Barcella, Guido Pacini, Carlo Pietrasanta, Lorenza Pugni, Giulia Pais, Fabrizio Benedicenti, Stefania Giannelli, Ilaria Monti, Silvia Darin, Graziano Barera, Francesca Tucci, Francesca Ferrua, Valeria Calbi, Bernhard Gentner, Raffaella DI Micco, Eugenio Montini, Andrea Calabria, Ivan Merelli, Fabio Mosca, Maria Ester Bernardo, Maria Pia Cicalese, Alessandro Aiuti, Scala Serena

Source: HemaSphere, Vol 7, p e78878d6 (2023)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: http://journals.lww.com/10.1097/01.HS9.0000967912.78878.d6; https://doaj.org/toc/2572-9241

Access URL: https://doaj.org/article/5db5ca39edba4d99b8ab8a0bef415a24

Case Report - Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation

Authors: Gaia Vincenzi, Ilenia Teresa Petralia, Marco Abbate, Giulia Tarantola, Silvia Laura Carla Meroni, Riccardo Maggiore, Gilberto Mari, Maria Grazia Patricelli, Marco Schiavo Lena, Graziano Barera, Maria Cristina Vigone

Source: Frontiers in Endocrinology, Vol 14 (2023)

Subject Terms: case report, PTEN hamartoma tumor syndrome, congenital hypothyroidism, TPO, goiter, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2023.1205785/full; https://doaj.org/toc/1664-2392

Access URL: https://doaj.org/article/c8eab1cbf4384dfeb70c5c05a4f045d2

Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?

Authors: Giulio Frontino, Raffaella Di Tonno, Marianna Rita Stancampiano, Francesca Arrigoni, Andrea Rigamonti, Elisa Morotti, Daniele Canarutto, Riccardo Bonfanti, Gianni Russo, Graziano Barera, Lorenzo Piemonti

Source: Frontiers in Endocrinology, Vol 14 (2023)

Subject Terms: Wolfram syndrome, Wolfram syndrome 1 (WFS1), monogenic diabetes, gonadal dysfunction, hypogonadism, hypergonadotropic hypogonadism, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2023.1155644/full; https://doaj.org/toc/1664-2392

Access URL: https://doaj.org/article/7ef22ef30a0c4d089676d73777b582f9

Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring

Authors: Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Cecilia Parazzini, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Luigina Spaccini, Maria Iascone, Elvira Verduci, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group, Gianluca Lista, Paola Fontana, Tiziana Varisco, Olivia Casati, Alberto Fabio Podestà, Maddalena Gibelli, Stefano Martinelli, Roberta Restelli, Laura Maria Pogliani, Roberta Agistri, Marco Giuseppe Nedbal, Paolo Vaglia, Chryssoula Tzialla, Luisa Magnani, Elena Sala, Laura Lorioli, Giuseppe Banderali, Diana Ghisleni, Bruno Drera, Marta Frittoli, Francesca Lizzoli, Marta Bellini, Paola Bruni, Ilaria Giulini, Valentina Benedetti, Valentina Polimeni, Nadia Salvoni, Masotina Raffaele, Cristina Bellan, Roberto Bottino, Graziano Barera, Antonella Poloniato, Marta Odoni, Ilaria Dalla Verde, Massimo Agosti, Angela Bossi, Anna Tosi, Anna Elisabetta Bussolini, Francesco Maria Risso, Vania Spinoni, Nicola Altamura, Patrizia Ballista, Silvia Di Chio, Luciana Pagani, Lidia Decembrino, Michela Grignani, Grazia Morandi, Valeria Angela Fasolato, Lorella Rossi, Emilio Palumbo, Alessandro Lepore, Maria Forestieri, Stefano Ghirardello, Elisa Civardi, Paolo Adamoli, Roberta Giacchero, Giovanni Traina, Patrizia Calzi, Fenesia Pedace, Marco Sala

Source: Frontiers in Neurology, Vol 13 (2023)

Subject Terms: X-ALD, X-linked adrenoleukodystrophy (X-ALD), Zellweger Spectrum Disorders, Aicardi-Goutières syndrome (AGS), hematopoietic stem cell transplantation (HCST), newborn screening (NBS), Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.1072256/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/8ddb7b61f9a94a7d98d8b68e6ba8ddab

Non-Occlusive Mesenteric Ischemia in Children With Diabetic Ketoacidosis: Case Report and Review of Literature

Authors: Giulio Frontino, Raffaella Di Tonno, Valeria Castorani, Andrea Rigamonti, Elisa Morotti, Federica Sandullo, Francesco Scialabba, Francesca Arrigoni, Riccardo Foglino, Benedetta Dionisi, Chiara Irene Carla Ferri, Salvatore Zirpoli, Graziano Barera, Franco Meschi, Riccardo Bonfanti

Source: Frontiers in Endocrinology, Vol 13 (2022)

Subject Terms: non-occlusive mesenteric ischemia (NOMI), DKA (diabetic ketoacidosis), insulin pump (CSII: continuous subcutaneous insulin infusion), acute kidney injury, hyperosmolar (hyperglycemic) coma, T1DM (type 1 diabetes mellitus), Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2022.900325/full; https://doaj.org/toc/1664-2392

Access URL: https://doaj.org/article/f4d5bd07237a482c975236f4b4486af3

Case Report: Safety and Efficacy of Omalizumab in a 13-Year-Old Patient With Chronic Spontaneous Urticaria and Type 1 Diabetes

Authors: Paolo Del Barba, Federica Del Tedesco, Giulio Frontino, Maria Pia Guarneri, Riccardo Bonfanti, Graziano Barera

Source: Frontiers in Immunology, Vol 13 (2022)

Subject Terms: chronic spontaneous urticaria, type 1 diabetes, omalizumab, pediatrics, glycemic, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.853561/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/a9f7dd898e0941609659796cc46483a2

Safety and Efficacy of Pamidronate in Neonatal Hypercalcemia Caused by Subcutaneous Fat Necrosis: A Case Report

Authors: Stefano Martinelli, Marco Pitea, Italo Francesco Gatelli, Tara Raouf, Graziano Barera, Ottavio Vitelli

Source: Frontiers in Pediatrics, Vol 10 (2022)

Subject Terms: pamidronate, biphosphonate, subcutaneous fat necrosis, hypercalcemia, newborn, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.845424/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/8971473553c24d73830a6ad7d8b3662a

Case Report: Off-Label Liraglutide Use in Children With Wolfram Syndrome Type 1: Extensive Characterization of Four Patients

Authors: Giulio Frontino, Tara Raouf, Daniele Canarutto, Eva Tirelli, Raffaella Di Tonno, Andrea Rigamonti, Maria Lucia Cascavilla, Cristina Baldoli, Roberta Scotti, Letizia Leocani, Su-Chun Huang, Franco Meschi, Graziano Barera, Vania Broccoli, Greta Rossi, Silvia Torchio, Raniero Chimienti, Riccardo Bonfanti, Lorenzo Piemonti

Source: Frontiers in Pediatrics, Vol 9 (2021)

Subject Terms: Wolfram syndrome, Wolfram syndrome 1 (WFS1), monogenic diabetes, GLP1 receptor agonists, liraglutide, neurodegeneration, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.755365/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/ad082d63358d486ea8fbc25157296591

Epidemiology, Clinical Features and Prognostic Factors of Pediatric SARS-CoV-2 Infection: Results From an Italian Multicenter Study

Authors: Silvia Garazzino, Andrea Lo Vecchio, Luca Pierantoni, Francesca Ippolita Calò Carducci, Federico Marchetti, Antonella Meini, Elio Castagnola, Gianluca Vergine, Daniele Donà, Samantha Bosis, Icilio Dodi, Elisabetta Venturini, Enrico Felici, Roberta Giacchero, Marco Denina, Luca Pierri, Giangiacomo Nicolini, Carlotta Montagnani, Andrzej Krzysztofiak, Sonia Bianchini, Caterina Marabotto, Pier-Angelo Tovo, Giulia Pruccoli, Marcello Lanari, Alberto Villani, Guido Castelli Gattinara, The Italian SITIP-SIP Pediatric Infection Study Group, Valeria Caldarelli, Filippo Maria Salvini, Giovanni Corsello, Barba Paolo Del, Paola Berlese, Carlo Agostoni, Chiara Ghizzi, Vera Quadri, Sara Riscassi, Ivana Rabbone, Carmelina Calitri, Luisa Abbagnato, Luciana Parola, Giuseppe Banderali, Ilaria Pacati, Simonetta Cherubini, Paola Lippi, Andrea Guala, Rino Agostiniani, Salvatore Cazzato, Ahmad Kantar, Luca Baroero, Nadia Rossi, Cristina Dalmazzo, Laura Panigati, Paolo Manzoni, Alessandro Vigo, Ludovica Fiore, Pasquale Comberiati, Gianna Battezzati, Paola Verna, Gianluca Tornese, Paola Gianino, Luca Bertacca, Angelina Vaccaro, Giorgio Zavarise, Luigi Marchione, Paola Gallia, Paola Di Filippo, Chiara Centenari, Alessandra Iacono, Alessandro Plebani, Marta Ferretti, Sara Rizzi, Sara Rossin, Paola Marchisio, Alessandro De Fanti, Costantino De Giacomo, Giuliana Ferrante, Graziano Barera, Pajno Roberta, Stefano Martelossi, Alessia Rocchi, Rosa Francavilla, Valin Paola Sogno, Marco Poeta, Piero Valentini, Raffaele Papa, Anna Maria Magistà, Raffaele Badolato, Carolina Saffioti, Maria Cristina Greco, Paola Costenaro, Maria Di Pietro, Susanna Esposito, Giovanni Pieri, Maria Valentina Spartà, Valentina Maffini, Laura Cursi, Francesco Nunziata, Federica Mignone, Claudia Bondone, Giacomo Stera, Agostina Marolda, Lorenzo Fiorica, Caterina Sabatini, Maria Rita Genovese, Cristina Ferrari, Luisa Galli

Source: Frontiers in Pediatrics, Vol 9 (2021)

Subject Terms: SARS-CoV-2 infection, children, multisystem inflammatory syndrome, MIS-C, COVID-19, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.649358/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/2ec8e367cab847efa6b8f95c3ad14d34

Guided Growth in Leg Length Discrepancy in Beckwith-Wiedemann Syndrome: A Consecutive Case Series

Authors: Maurizio De Pellegrin, Lorenzo Brogioni, Guy Laskow, Graziano Barera, Roberta Pajno, Sara Osimani, Silvia Russo, Lorenzo Marcucci

Source: Children, Vol 8, Iss 12, p 1152 (2021)

Subject Terms: BWS, leg length discrepancy, LLD, lateralized overgrowth, temporary epiphysiodesis, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.mdpi.com/2227-9067/8/12/1152; https://doaj.org/toc/2227-9067

Access URL: https://doaj.org/article/91b6fa6fb6074865ac0faefeb6c0f6c4

Corrigendum: Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

Authors: Cristina Cifaldi, Immacolata Brigida, Federica Barzaghi, Matteo Zoccolillo, Valentina Ferradini, Davide Petricone, Maria Pia Cicalese, Dejan Lazarevic, Davide Cittaro, Maryam Omrani, Enrico Attardi, Francesca Conti, Alessia Scarselli, Maria Chiriaco, Silvia Di Cesare, Francesco Licciardi, Montin Davide, Francesca Ferrua, Clementina Canessa, Claudio Pignata, Silvia Giliani, Simona Ferrari, Georgia Fousteri, Graziano Barera, Pietro Merli, Paolo Palma, Simone Cesaro, Marco Gattorno, Antonio Trizzino, Viviana Moschese, Loredana Chini, Anna Villa, Chiara Azzari, Andrea Finocchi, Franco Locatelli, Paolo Rossi, Federica Sangiuolo, Alessandro Aiuti, Caterina Cancrini, Gigliola Di Matteo

Source: Frontiers in Immunology, Vol 10 (2019)

Subject Terms: primary immunodeficiencies, Next Generation Sequencing, gene panels, Ion Torrent, Haloplex, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2019.01184/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/a8d38f91087949aea791dfc0f4d66c39

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

Authors: Cristina Cifaldi, Immacolata Brigida, Federica Barzaghi, Matteo Zoccolillo, Valentina Ferradini, Davide Petricone, Maria Pia Cicalese, Dejan Lazarevic, Davide Cittaro, Maryam Omrani, Enrico Attardi, Francesca Conti, Alessia Scarselli, Maria Chiriaco, Silvia Di Cesare, Francesco Licciardi, Montin Davide, Francesca Ferrua, Clementina Canessa, Claudio Pignata, Silvia Giliani, Simona Ferrari, Georgia Fousteri, Graziano Barera, Pietro Merli, Paolo Palma, Simone Cesaro, Marco Gattorno, Antonio Trizzino, Viviana Moschese, Loredana Chini, Anna Villa, Chiara Azzari, Andrea Finocchi, Franco Locatelli, Paolo Rossi, Federica Sangiuolo, Alessandro Aiuti, Caterina Cancrini, Gigliola Di Matteo

Source: Frontiers in Immunology, Vol 10 (2019)

Subject Terms: primary immunodeficiencies, Next Generation Sequencing, gene panels, Ion Torrent, Haloplex, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2019.00316/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/6c77c5fc57fe4e6d8f9a9dfe6dedd1b7

Massive Amniotic Fluid Aspiration in a Case of Sudden Neonatal Death With Severe Hypoplasia of the Retrotrapezoid/Parafacial Respiratory Group

Authors: Anna M. Lavezzi, Antonella Poloniato, Rosanna Rovelli, Laura Lorioli, Gabriela Alejandra Iasi, Teresa Pusiol, Graziano Barera, Stefano Ferrero

Source: Frontiers in Pediatrics, Vol 7 (2019)

Subject Terms: newborn, sudden neonatal death, amniotic fluid inhalation, brainstem, retrotrapezoid/parafacial respiratory group, hypoplasia, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fped.2019.00116/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/d8f11a4574f040edbdfc991c04b76098

Prenatal Management of Congenital Human Cytomegalovirus Infection in Seropositive Pregnant Patients Treated with Azathioprine

Authors: Paolo Ivo Cavoretto, Chiara Fornara, Cristina Baldoli, Alessia Arossa, Milena Furione, Massimo Candiani, Patrizia Rovere Querini, Graziano Barera, Antonella Poloniato, Gerarda Gaeta, Arsenio Spinillo, Daniele Lilleri

Source: Diagnostics, Vol 10, Iss 8, p 542 (2020)

Subject Terms: congenital cytomegalovirus infection, azathioprine, pregnancy, ultrasound, fetal MRI, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.mdpi.com/2075-4418/10/8/542; https://doaj.org/toc/2075-4418

Access URL: https://doaj.org/article/3b59e2710afc4f54b776e7f194f54616

Role of reduced intensity conditioning in T-cell and B-cell immune reconstitution after HLA-identical bone marrow transplantation in ADA-SCID

Authors: Caterina Cancrini, Francesca Ferrua, Alessia Scarselli, Immacolata Brigida, Maria Luisa Romiti, Graziano Barera, Andrea Finocchi, Maria Grazia Roncarolo, Maurizio Caniglia, Alessandro Aiuti

Source: Haematologica, Vol 95, Iss 10 (2010)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: https://haematologica.org/article/view/5764; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

Access URL: https://doaj.org/article/5792498fe029453db7c7b3dc9c95a8d6

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