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4. Corrigendum: The new Italian registry of infantile thrombosis (RITI): a reflection on its journey, challenges and pitfalls

Author

Maria Federica Pelizza, Matteo Martinato, Anna Rosati, Margherita Nosadini, Paola Saracco, Paola Giordano, Matteo Luciani, Laura Ilardi, Donatella Lasagni, Angelo Claudio Molinari, Rossana Bagna, Antonella Palmieri, Luca Antonio Ramenghi, Massimo Grassi, Mariella Magarotto, Federica Magnetti, Andrea Francavilla, Giuseppe Indolfi, Agnese Suppiej, Chiara Gentilomo, Roberta Restelli, Antonella Tufano, Daniela Tormene, Jacopo Norberto Pin, Clarissa Tona, Davide Meneghesso, Lidia Rota, Marta Conti, Giovanna Russo, Giulia Lorenzoni, Dario Gregori, Stefano Sartori, Paolo Simioni, Collaborators of the R.I.T.I. (Italian and Registry of Infantile Thrombosis), Accorsi Patrizia, Aceto Gabriella, Agnoletti Gabriella, Agostini Manuela, Alfarano Angela, Altieri Elena, Amador Carolina, Antonelli Camilla, Arena Vittoria, Asta Francesca, Baggio Laura, Ballardini Elisa, Baracetti Margherita, Baraldi Eugenio, Barberis Laura, Barisone Elena, Basso Anne Letizia, Battajon Nadia, Bersani Iliana, Biddeci Giada, Biffanti Roberta, Bonardi Claudia Maria, Bonaudo Roberto, Boniver Clementina, Boscarol Gianluca, Bottino Roberto, Bravar Giulia, Brizzi Ilaria, Brolatti Noemi, Braguglia Annabella, Guaragni Brunetta, Bugin Samuela, Calvo Pier Luigi, Capasso Antonella, Capodiferro Donatella, Cappelleri Alessia, Cascarano Maria Teresa, Casellato Susanna, Casini Tommaso, Catarzi Serena, Cavaliere Elena, Cavicchiolo Maria Elena, Celestino Silvia, Celle Maria Elena, Centonze Nicola, Cerutti Alessia, Chakrokh Roksana, Offer Chiara, Chiodin Elisabetta, Chirico Gaetano, Chukhlantseva Natalia, Cifarelli Paola, Cinelli Giulia, Coinu Marisa, Colonna Clara, Comito Donatella, Corato Alessandra, Cordelli Duccio Maria, Crichiutti Giovanni, Cursio Ida, Dagri Arianna, De Maria Beatrice, Del Borrello Giovanni, Di Rienzo Francesca, Doglioni Nicoletta, Dolcemascolo Valentina, Dotta Andrea, Drigo Paola, Drimaco Pietro, Ellero Serena, Falcone Alessandra, Fantauzzi Ambra, Farinasso Daniela, Ferilli Michela, Festa Silvia, Fischer Maximilian, Foiadelli Thomas, Fotzi Ilaria, Francavilla Rosa, Freschi Paola, Gaffuri Marcella, Gallo Elena, Gamalero Lisa, Gandioli Claudia, Garuccio Sergio, Gentile Diletta, Ghionzoli Marco, Giliberti Paola, Greco Filippo, Guariento Chiara, Guidotti Isotta, Iodice Alessandro, Janes Augusta, Laghi Elena, Lampugnani Elisabetta, Lassandro Giuseppe, Laverda Anna Maria, Lazzerotti Alessandra, Lo Tartaro Meragliotta Patrizia, Lombardini Martina, Lorenzon Eleonora, Mainini Nicoletta, Massoud Michela, Materia Valeria, Mattera Raffaele, Mauro Isabella, Melani Federico, Meli Mariaclaudia, Messina Giovanni, Monticone Sonia, Moras Marzia, Negro Ilaria, Olzai Giorgio, Pancani Simone, Pandolfi Maria, Passariello Annalisa, Passarini Alice, Passone Eva, Pastorino Myriam, Pegoraro Veronica, Pennoni Serena, Perilongo Giorgio, Pozzessere Anna, Pruna Dario, Pusiol Anna, Putti Maria Caterina, Rabbone Ivana, Radicioni Maurizio, Renna Salvatore, Ricci Maria Luisa, Rimini Alessandro, Rivellini Sara, Rustioni Gianluca, Salvadori Sabrina, Santoiemma Valentina, Santoro Nicola, Schiavulli Michele, Sebellin Sofia, Sesta Michela, Soffiati Massimo, Sorbo Monica, Spanedda Giuseppina, Stangalini Valeria, Stasolla Salvatore, Tanzi Giorgia, Testa Tiziana, Teutonico Federica, Timpani Giuseppina, Toldo Irene, Trapani Sandra, Vaccari Roberto, Vecchi Marilena, Vento Giovanni, Veraldi Daniele, Villa Giovanna, Visintin Gianluca, Zambelloni Cesare, and Zellini Francesco

Subjects
thrombosis, stroke, children, pediatric, registry, thromboembolism, Pediatrics, RJ1-570
Published
2024
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6. A narrative review on pathogenetic mechanisms of hyperinsulinemic hypoglycemia in Kabuki syndrome

Author

Maines Evelina, Maiorana Arianna, Leonardi Letizia, Piccoli Giovanni, Soffiati Massimo, and Franceschi Roberto

Subjects
kabuki syndrome, hyperinsulinism, hypoglycemia, kmt2d, kdm6a, review, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

Objective. Kabuki syndrome (KS) is associated with hyperinsulinemic hypoglycemia (HH) in 0.3–4% of patients, thus exceeding the prevalence in the general population. HH association is stronger for KS type 2 (KDM6A-KS, OMIM #300867) than KS type 1 (KMT2D-KS, OMIM #147920). Both the disease-associated genes, KMD6A and KMT2D, modulate the chromatin dynamic. As such, KS is considered to be the best characterized pediatric chromatinopathy. However, the exact pathogenetic mechanisms leading to HH in this syndrome remain still unclear.

Published
2023
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9. The new Italian registry of infantile thrombosis (RITI): A reflection on its journey, challenges and pitfalls

Author

Maria Federica Pelizza, Matteo Martinato, Anna Rosati, Margherita Nosadini, Paola Saracco, Paola Giordano, Matteo Luciani, Laura Ilardi, Donatella Lasagni, Angelo Claudio Molinari, Rossana Bagna, Antonella Palmieri, Luca Antonio Ramenghi, Massimo Grassi, Mariella Magarotto, Federica Magnetti, Andrea Francavilla, Giuseppe Indolfi, Agnese Suppiej, Chiara Gentilomo, Roberta Restelli, Antonella Tufano, Daniela Tormene, Jacopo Norberto Pin, Clarissa Tona, Davide Meneghesso, Lidia Rota, Marta Conti, Giovanna Russo, Giulia Lorenzoni, Dario Gregori, Stefano Sartori, Paolo Simioni, Collaborators of the R.I.T.I. (Italian Registry of Infantile Thrombosis), Accorsi Patrizia, Aceto Gabriella, Agnoletti Gabriella, Agostini Manuela, Alfarano Angela, Altieri Elena, Amador Carolina, Antonelli Camilla, Arena Vittoria, Asta Francesca, Baggio Laura, Ballardini Elisa, Baracetti Margherita, Baraldi Eugenio, Barberis Laura, Barisone Elena, Basso Anne Letizia, Battajon Nadia, Bersani Iliana, Biddeci Giada, Biffanti Roberta, Bonardi Claudia Maria, Bonaudo Roberto, Boniver Clementina, Boscarol Gianluca, Bottino Roberto, Bravar Giulia, Brizzi Ilaria, Brolatti Noemi, Braguglia Annabella, Guaragni Brunetta, Bugin Samuela, Calvo Pier Luigi, Capasso Antonella, Capodiferro Donatella, Cappelleri Alessia, Cascarano Maria Teresa, Casellato Susanna, Casini Tommaso, Catarzi Serena, Cavaliere Elena, Cavicchiolo Maria Elena, Celestino Silvia, Celle Maria Elena, Centonze Nicola, Cerutti Alessia, Chakrokh Roksana, Offer Chiara, Chiodin Elisabetta, Chirico Gaetano, Chukhlantseva Natalia, Cifarelli Paola, Cinelli Giulia, Coinu Marisa, Colonna Clara, Comito Donatella, Corato Alessandra, Cordelli Duccio Maria, Crichiutti Giovanni, Cursio Ida, Dagri Arianna, De Maria Beatrice, Del Borrello Giovanni, Di Rienzo Francesca, Doglioni Nicoletta, Dolcemascolo Valentina, Dotta Andrea, Drigo Paola, Drimaco Pietro, Ellero Serena, Falcone Alessandra, Fantauzzi Ambra, Farinasso Daniela, Ferilli Michela, Festa Silvia, Fischer Maximilian, Foiadelli Thomas, Fotzi Ilaria, Francavilla Rosa, Freschi Paola, Gaffuri Marcella, Gallo Elena, Gamalero Lisa, Gandioli Claudia, Garuccio Sergio, Gentile Diletta, Ghionzoli Marco, Giliberti Paola, Greco Filippo, Guariento Chiara, Guidotti Isotta, Iodice Alessandro, Janes Augusta, Laghi Elena, Lampugnani Elisabetta, Lassandro Giuseppe, Laverda Anna Maria, Lazzerotti Alessandra, Lo Tartaro Meragliotta Patrizia, Lombardini Martina, Lorenzon Eleonora, Mainini Nicoletta, Massoud Michela, Materia Valeria, Mattera Raffaele, Mauro Isabella, Melani Federico, Meli Mariaclaudia, Messina Giovanni, Monticone Sonia, Moras Marzia, Negro Ilaria, Olzai Giorgio, Pancani Simone, Pandolfi Maria, Passariello Annalisa, Passarini Alice, Passone Eva, Pastorino Myriam, Pegoraro Veronica, Pennoni Serena, Perilongo Giorgio, Pozzessere Anna, Pruna Dario, Pusiol Anna, Putti Maria Caterina, Rabbone Ivana, Radicioni Maurizio, Renna Salvatore, Ricci Maria Luisa, Rimini Alessandro, Rivellini Sara, Rustioni Gianluca, Salvadori Sabrina, Santoiemma Valentina, Santoro Nicola, Schiavulli Michele, Sebellin Sofia, Sesta Michela, Soffiati Massimo, Sorbo Monica, Spanedda Giuseppina, Stangalini Valeria, Stasolla Salvatore, Tanzi Giorgia, Testa Tiziana, Teutonico Federica, Timpani Giuseppina, Toldo Irene, Trapani Sandra, Vaccari Roberto, Vecchi Marilena, Vento Giovanni, Veraldi Daniele, Villa Giovanna, Visintin Gianluca, Zambelloni Cesare, and Zellini Francesco

Subjects
thrombosis, stroke, children, pediatric, registry, thromboembolism, Pediatrics, RJ1-570
Abstract

IntroductionThrombotic events in neonates and children represent a rare although severe occurrence in view of the associated risk of mortality and sequelae. Quality evidence is limited in this field, and registry studies provide an essential base for research. The aim of this paper is to present the new Italian Registry of Infantile Thrombosis (RITI), set it into the scene of international thrombosis and stroke registries, and provide some insight on the challenges associated with registry management.MethodsWe present the detailed structure and content of the new RITI registry, a brief overview of its main data, and a reflection on its features, pitfalls and the main challenges related to its management.ResultsThe RITI, initially started in 2007 and officially re-launched in 2017 after structural modifications, is a non-interventional retrospective and prospective registry study collecting data on neonatal and pediatric patients (0–18 years) who experienced a systemic or cerebral thrombotic event in Italy. The RITI is managed by a multidisciplinary team with expertise in pediatric thrombosis, and participation is open to all Italian physicians, on a voluntary basis. The overall aim of the registry is to acquire new evidence to better characterize the population of children with thrombotic events and improve their management and outcome. 48 Italian pediatric and intensive care units are actively involved in the RITI, including 85 medical doctors from 16 Italian regions. A total of 1,001 neonates and children affected by cerebral or systemic thrombosis have been enrolled.DiscussionThe RITI is one of the largest available European registries of neonatal and pediatric thrombosis. National registries like the RITI represent a model for the study of rare conditions based on multidisciplinary and multicenter collaboration, aimed at overcoming the limitations due to small populations of patients, and creating a network of experts for patient referral and continuous education. Moreover, registry studies have a pivotal role in the research on pediatric thrombosis, due to the limited feasibility of high-quality studies. In our experience, the main critical stages, pitfalls and challenges in registry management include adequate registry designing, diffusion, data completeness and quality control.

Published
2023
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11. Incidence of Type 1 Diabetes in Children Aged 0–14 Years in Trentino–Alto Adige Region and Determinants of Onset with Ketoacidosis.

Author

Fanti, Stefania, Lazzarotto, Denise, Reinstadler, Petra, Quaglia, Nadia, Maines, Evelina, Lamberti, Maria Agostina, Cauvin, Vittoria, Pertile, Riccardo, Soffiati, Massimo, and Franceschi, Roberto

Subjects
TYPE 1 diabetes, COVID-19 pandemic, DIABETES in children, GLYCOSYLATED hemoglobin, DIABETIC acidosis
Abstract

Aim: To assess the incidence and the temporal trend of type 1 diabetes (T1D) and diabetic ketoacidosis (DKA) during the period 2014–2023 in youths aged 0–14 years in the Trentino–Alto Adige region, Italy. Methods: A retrospective review of all incident cases of T1D diagnosed at the two Pediatric Diabetes Centers of Bolzano and Trento was matched with diabetes exemptions (No. 344). Demographic, clinical, and socioeconomic status (SES) data at first hospitalization were collected from subjects who agreed to participate (No. 272). Results: The incidence of T1D was 21.5/100,000 person/years, with a peak of 31.1 in 2021 during the COVID-19 pandemic. The mean age at the onset was 8.8 ± 3.9 years. Seventy-nine percent of the subjects were Italians, primarily residents in rural areas, and SES was equally represented. The mean incidence of DKA was 36.9%. The logistic regression analysis showed that the independent characteristics of the patients with DKA were of a younger age and displayed higher glycated hemoglobin (HbA1c) values. No relation of DKA with seasonality, ethnicity, or first-degree relative (FDR) with T1D or SES was detected. Conclusions: Our study revealed an incidence of T1D in the Trentino–Alto Adige region comparable to other areas in the North of Italy. The DKA rate negatively correlated with age; therefore, targeted prevention educational campaigns to increase awareness are needed. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Drug-Induced Hypoglycemia in Neonates Born to Nondiabetic Women Treated with Medications during the Pregnancy or the Labor: A Systematic Review of the Literature

Author

Maines, Evelina, additional, Cardellini, Maria Chiara, additional, Stringari, Giovanna, additional, Leonardi, Letizia, additional, Piccoli, Giovanni, additional, Urru, Silvana Anna Maria, additional, Maiorana, Arianna, additional, Soffiati, Massimo, additional, and Franceschi, Roberto, additional

Published
2023
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18. Mother-to-Infant Microbial Transmission from Different Body Sites Shapes the Developing Infant Gut Microbiome

Author

Ferretti, Pamela, Pasolli, Edoardo, Tett, Adrian, Asnicar, Francesco, Gorfer, Valentina, Fedi, Sabina, Armanini, Federica, Truong, Duy Tin, Manara, Serena, Zolfo, Moreno, Beghini, Francesco, Bertorelli, Roberto, De Sanctis, Veronica, Bariletti, Ilaria, Canto, Rosarita, Clementi, Rosanna, Cologna, Marina, Crifò, Tiziana, Cusumano, Giuseppina, Gottardi, Stefania, Innamorati, Claudia, Masè, Caterina, Postai, Daniela, Savoi, Daniela, Duranti, Sabrina, Lugli, Gabriele Andrea, Mancabelli, Leonardo, Turroni, Francesca, Ferrario, Chiara, Milani, Christian, Mangifesta, Marta, Anzalone, Rosaria, Viappiani, Alice, Yassour, Moran, Vlamakis, Hera, Xavier, Ramnik, Collado, Carmen Maria, Koren, Omry, Tateo, Saverio, Soffiati, Massimo, Pedrotti, Anna, Ventura, Marco, Huttenhower, Curtis, Bork, Peer, and Segata, Nicola

Published
2018
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21. Understanding the Pathogenesis of Cardiac Complications in Patients with Propionic Acidemia and Exploring Therapeutic Alternatives for Those Who Are Not Eligible or Are Waiting for Liver Transplantation

Author

Maines, Evelina, primary, Moretti, Michele, additional, Vitturi, Nicola, additional, Gugelmo, Giorgia, additional, Fasan, Ilaria, additional, Lenzini, Livia, additional, Piccoli, Giovanni, additional, Gragnaniello, Vincenza, additional, Maiorana, Arianna, additional, Soffiati, Massimo, additional, Burlina, Alberto, additional, and Franceschi, Roberto, additional

Published
2023
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22. Prenatal Diagnosis of a Case of Severe DGUOK Deficiency Did Not Affect the Postnatal Outcomes.

Author

Maines, Evelina, Rizzardi, Caterina, Bolognani, Marco, Soli, Fiorenza, Piccoli, Giovanni, Soffiati, Massimo, and Franceschi, Roberto

Subjects
PRENATAL diagnosis, MITOCHONDRIAL DNA, CHORIONIC villus sampling, MEDICAL personnel, COMPUTATIONAL biology, FAMILY support
Abstract

This document discusses the challenges and management of prenatal counseling for DGUOK deficiency, a mitochondrial disease. The authors emphasize the importance of accurate information and strong support for parents and families following a prenatal diagnosis. They highlight the need for a multidisciplinary approach involving various healthcare professionals. The document also mentions the lack of clear genotype-phenotype correlation in patients with pathogenic missense variants in the DGUOK gene. Overall, the authors stress the need for more research and comprehensive information to guide healthcare providers in counseling families about DGUOK deficiency. [Extracted from the article]

Published
2024
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23. A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?

Author

Franceschi, Roberto, Maines, Evelina, Bellizzi, Maria, Rivieri, Francesca, Bacca, Andrea, Filippi, Alessandra, Valente, Enza Maria, Plumari, Massimo, Soffiati, Massimo, Vincenzi, Monica, Teofoli, Francesca, and Camilot, Marta

Abstract

Congenital hypothyroidism (CH) may be caused by biallelic variants in the TSHR gene. CH due to thyroid dysgenesis has also been linked to pathogenic variants of the nucleotide kinase 2, homeobox 5 (NKX2-5) gene, which can also cause sudden cardiac death from ventricular arrhythmia. In particular, the NKX2-5 p.Arg25Cys missense variant has been repeatedly reported in patients with congenital heart defects and, more rarely, with hypogonadism. We report the case of a 7 year old boy with ventricular arrhythmias, thyroid dysgenesis and intellectual disability, born from consanguineous Tunisian parents. Exome sequencing and segregation analysis revealed two potentially relevant variants: the NKX2-5 p.Arg25Cys variant (maternally inherited), as well as a single heterozygous TSHR p.Gln90Pro variant (paternally inherited). Of note, a male sibling of the proband, presenting with intellectual disability only, carried the same two variants. No other TSHR variants, or other potentially relevant variants were identified. In this proband, despite the identification of variants in two genes potentially correlated to the phenotype, a definite genetic diagnosis could not be reached. This case report highlights the complexity of exome data interpretation, especially when dealing with families presenting complex phenotypes and variable expression of clinical traits.

Published
2023

25. A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?

Author

Franceschi, Roberto, primary, Maines, Evelina, additional, Bellizzi, Maria, additional, Rivieri, Francesca, additional, Bacca, Andrea, additional, Filippi, Alessandra, additional, Valente, Enza Maria, additional, Plumari, Massimo, additional, Soffiati, Massimo, additional, Vincenzi, Monica, additional, Teofoli, Francesca, additional, and Camilot, Marta, additional

Published
2022
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31. Educational Intervention of Healthy Life Promotion for Children with a Migrant Background or at Socioeconomic Disadvantage in the North of Italy: Efficacy of Telematic Tools in Improving Nutritional and Physical Activity Knowledge

Author

Franceschi, Roberto, primary, Fornari, Elena, additional, Ghezzi, Monica, additional, Buzzi, Eleonora, additional, Toschi, Margherita, additional, Longhi, Silvia, additional, Maimone, Rosa, additional, Forti, Stefano, additional, Carneri, Sara, additional, Pirous, Fateh Moghadam, additional, Agostini, Beatrice, additional, Iori, Tommaso, additional, Gibin, Marta, additional, Porchia, Stefania, additional, Soffiati, Massimo, additional, and Maffeis, Claudio, additional

Published
2021
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32. C (p.Leu572Ser))

Author

Bulfamante, Gaetano Pietro, Carpenito, Laura, Bragantini, Emma, Graziani, Silvia, Bellizzi, Maria, Bagowski, Christoph Peter, Shoukier, Moneef, Rivieri, Francesca, Soffiati, Massimo, and Barbareschi, Mattia

Subjects
pathogenic variant, autopsy, arterial calcifications, GACI, mutations, ENPP1 gene
Abstract

Generalized Arterial Calcification of Infancy (GACI) is a rare disease inherited in a recessive manner, with severe and diffuse early onset of calcifications along the internal elastic lamina in large and medium size arteries. The diagnosis results are from clinical manifestations, imaging, histopathologic exams, and genetic tests. GACI is predominantly caused by biallelic pathogenic variant in the ENPP1 gene (GACI1, OMIM#208000) and, to a lesser extent, by pathogenic variants in the ABCC6 gene (GACI2, OMIM#614473). We present a novel variation in the ENPP1 gene identified in a patient clinically diagnosed with GACI and confirmed by genetic investigation and autopsy as GACI type 1. The sequence analysis of the patient’s ENPP1 gene detected two heterozygous variants c.1412A&gt, G (p.Tyr471Cys) and c.1715T&gt, C (p.Leu572Ser). The variant c.1715T&gt, C (p.Leu572Ser) has not been described yet in the literature and in mutation databases. A genetic analysis was also carried out for the parents of the newborn, the heterozygous pathogenic variant c.1412A&gt, G (p.Tyr471Cys) was detected in the mother’s ENPP1 gene, and a sequence analysis of the father’s ENPP1 gene revealed the novel heterozygous variant c.1715T&gt, C (p.Leu572Ser). Our results showed that the variant c.1715T&gt, C (p.Leu572Ser) may have a pathogenic role in the development of GACI type1 (GACI1, OMIM#208000), at least when associated with the pathogenic c.1412A&gt, G (p.Tyr471Cys) variant. The identification of novel mutations potentially enabled genotype/phenotype associations that will ultimately have an impact on clinical management and prognosis for the disease.

Published
2021
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35. Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser))

Author

Bulfamante, Gaetano Pietro, primary, Carpenito, Laura, additional, Bragantini, Emma, additional, Graziani, Silvia, additional, Bellizzi, Maria, additional, Bagowski, Christoph Peter, additional, Shoukier, Moneef, additional, Rivieri, Francesca, additional, Soffiati, Massimo, additional, and Barbareschi, Mattia, additional

Published
2021
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37. A missense mutation in DDRGK1 gene associated to Shohat‐type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.

Author

Franceschi, Roberto, Iascone, Maria, Maitz, Silvia, Marchetti, Daniela, Mariani, Milena, Selicorni, Angelo, Soffiati, Massimo, and Maines, Evelina

Abstract

Spondylo‐epi‐metaphyseal dysplasia Shohat type (SEMDSH, OMIM # 602557) is a rare skeletal dysplasia. Until recently, only eight patients of five families have been reported. The disorder is characterized by severely disproportionate short stature with a short neck, small trunk with abdominal distension, and short lower limbs. Joint laxity and bowed legs are seen. The same homozygous splicing pathogenic variant in the DDRGK1 gene was found in four Iraqi families. Here we report a homozygous missense pathogenic variant in DDRGK1 in two children from unrelated two Moroccan families. The clinical and radiological phenotypes of the affected children were similar to those previously described. [ABSTRACT FROM AUTHOR]

Published
2022
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38. Thermal management with and without servo-controlled system in preterm infants immediately after birth: a multicentre, randomised controlled study

Author

Cavallin, Francesco, primary, Doglioni, Nicoletta, additional, Allodi, Alessandra, additional, Battajon, Nadia, additional, Vedovato, Stefania, additional, Capasso, Letizia, additional, Gitto, Eloisa, additional, Laforgia, Nicola, additional, Paviotti, Giulia, additional, Capretti, Maria Grazia, additional, Gizzi, Camilla, additional, Villani, Paolo Ernesto, additional, Biban, Paolo, additional, Pratesi, Simone, additional, Lista, Gianluca, additional, Ciralli, Fabrizio, additional, Soffiati, Massimo, additional, Staffler, Alex, additional, Baraldi, Eugenio, additional, and Trevisanuto, Daniele, additional

Published
2021
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39. Development of a Perinatal Palliative Care Model at a Level II Perinatal Center Supported by a Pediatric Palliative Care Network

Author

Bolognani, Marco, primary, Morelli, Paola Daniela, additional, Scolari, Isabella, additional, Dolci, Cristina, additional, Fiorito, Valentina, additional, Uez, Francesca, additional, Graziani, Silvia, additional, Stefani, Barbara, additional, Zeni, Francesca, additional, Gobber, Gino, additional, Bravi, Elena, additional, Tateo, Saverio, additional, and Soffiati, Massimo, additional

Published
2021
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43. Mother-to-Infant Microbial Transmission from Different Body Sites Shapes the Developing Infant Gut Microbiome

Author

European Commission, LEO Pharma Foundation, Fondazione Caritro, Ferretti, Pamela, Pasolli, Edoardo, Tett, Adrian, Asnicar, Francesco, Gorfer, Valentina, Fedi, Sabina, Armanini, Federica, Truong, Duy Tin, Manara, Serena, Zolfo, Moreno, Beghini, Francesco, Bertorelli, Roberto, de Sanctis, Veronica, Bariletti, Ilaria, Canto, Rosarita, Clementi,Rosanna, Cologna,Marina, Crifò, Tiziana, Cusumano, Giuseppina, Gottardi, Stefania, Innamorati, Claudia, Masè,Caterina, Postai,Daniela, Savoi, Daniela, Duranti, Sabrina, Lugli, Gabriele Andrea, Mancabelli, Leonardo, Turroni, Francesca, Ferrario, Chiara, Milani, Christian, Mangifesta, Marta, Anzalone, Rosaria, Viappiani, Alice, Yassour, Moran, Vlamakis, Hera, Xavier, Ramnik, Collado, María Carmen, Koren,Omry, Tateo, Saverio, Soffiati,Massimo, Pedrotti, Anna, Ventura, Marco, Huttenhower, Curtis, Bork, Peer, Segata, Nicola, European Commission, LEO Pharma Foundation, Fondazione Caritro, Ferretti, Pamela, Pasolli, Edoardo, Tett, Adrian, Asnicar, Francesco, Gorfer, Valentina, Fedi, Sabina, Armanini, Federica, Truong, Duy Tin, Manara, Serena, Zolfo, Moreno, Beghini, Francesco, Bertorelli, Roberto, de Sanctis, Veronica, Bariletti, Ilaria, Canto, Rosarita, Clementi,Rosanna, Cologna,Marina, Crifò, Tiziana, Cusumano, Giuseppina, Gottardi, Stefania, Innamorati, Claudia, Masè,Caterina, Postai,Daniela, Savoi, Daniela, Duranti, Sabrina, Lugli, Gabriele Andrea, Mancabelli, Leonardo, Turroni, Francesca, Ferrario, Chiara, Milani, Christian, Mangifesta, Marta, Anzalone, Rosaria, Viappiani, Alice, Yassour, Moran, Vlamakis, Hera, Xavier, Ramnik, Collado, María Carmen, Koren,Omry, Tateo, Saverio, Soffiati,Massimo, Pedrotti, Anna, Ventura, Marco, Huttenhower, Curtis, Bork, Peer, and Segata, Nicola

Abstract

The acquisition and development of the infant microbiome are key to establishing a healthy host-microbiome symbiosis. The maternal microbial reservoir is thought to play a crucial role in this process. However, the source and transmission routes of the infant pioneering microbes are poorly understood. To address this, we longitudinally sampled the microbiome of 25 mother-infant pairs across multiple body sites from birth up to 4 months postpartum. Strain-level metagenomic profiling showed a rapid influx of microbes at birth followed by strong selection during the first few days of life. Maternal skin and vaginal strains colonize only transiently, and the infant continues to acquire microbes from distinct maternal sources after birth. Maternal gut strains proved more persistent in the infant gut and ecologically better adapted than those acquired from other sources. Together, these data describe the mother-to-infant microbiome transmission routes that are integral in the development of the infant microbiome.

Published
2018

44. Additional file 1: of Maternal inheritance of bifidobacterial communities and bifidophages in infants through vertical transmission

Author

Duranti, Sabrina, Lugli, Gabriele, Mancabelli, Leonardo, Armanini, Federica, Turroni, Francesca, James, Kieran, Ferretti, Pamela, Gorfer, Valentina, Ferrario, Chiara, Milani, Christian, Mangifesta, Marta, Anzalone, Rosaria, Zolfo, Moreno, Viappiani, Alice, Pasolli, Edoardo, Bariletti, Ilaria, Rosarita Canto, Clementi, Rosanna, Cologna, Marina, Crifò, Tiziana, Cusumano, Giuseppina, Fedi, Sabina, Gottardi, Stefania, Innamorati, Claudia, Masè, Caterina, Postai, Daniela, Savoi, Daniela, Soffiati, Massimo, Tateo, Saverio, Pedrotti, Anna, Segata, Nicola, Sinderen, Douwe Van, and Ventura, Marco

Abstract

Table S1. Taxonomy and filtering report of samples included in this study. Table S2 ITS-based OTUs shared by an entire sample sets. Table S3 List of bifidobacterial strain-specific primers. Table S4 Metagenomic reads classification of samples TVPR-01, TVPR-02, and TVPR-03. Table S5 List of specific primers for each bifidophage/bifidoprophages identified. (DOCX 37 kb)

Published
2017
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45. Maternal inheritance of bifidobacterial communities and bifidophages in infants through vertical transmission

Author

Duranti, Sabrina, primary, Lugli, Gabriele Andrea, additional, Mancabelli, Leonardo, additional, Armanini, Federica, additional, Turroni, Francesca, additional, James, Kieran, additional, Ferretti, Pamela, additional, Gorfer, Valentina, additional, Ferrario, Chiara, additional, Milani, Christian, additional, Mangifesta, Marta, additional, Anzalone, Rosaria, additional, Zolfo, Moreno, additional, Viappiani, Alice, additional, Pasolli, Edoardo, additional, Bariletti, Ilaria, additional, Canto, Rosarita, additional, Clementi, Rosanna, additional, Cologna, Marina, additional, Crifò, Tiziana, additional, Cusumano, Giuseppina, additional, Fedi, Sabina, additional, Gottardi, Stefania, additional, Innamorati, Claudia, additional, Masè, Caterina, additional, Postai, Daniela, additional, Savoi, Daniela, additional, Soffiati, Massimo, additional, Tateo, Saverio, additional, Pedrotti, Anna, additional, Segata, Nicola, additional, van Sinderen, Douwe, additional, and Ventura, Marco, additional

Published
2017
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46. Nurse safety practice in diabetes camps.

Author

Stefani, Lorenza, Franceschi, Roberto, Cauvin, Vittoria, Liguori, Alice, Rizzardi, Caterina, Francesca, Micheli, Berchielli, Federica, and Soffiati, Massimo

Subjects
OCCUPATIONAL roles, NEEDLE sharing, INDUSTRIAL safety, CAMP nursing, MEDICAL equipment contamination, HYGIENE, BLOOD sugar monitors, NURSES, STERILIZATION (Disinfection), SUPERVISION of employees, DRUG storage
Abstract

Position statements and guidelines for the care of children with diabetes in a camp setting and reviews of nursing staff roles can be found in medical literature. In this article, the authors report some possible pitfalls in nurse safety practice that are not stressed in guidelines, and offer some practical suggestions based on their own experience in diabetes camps. They focus on the risk of blood-borne pathogen contamination through glucose meters and through reusable penlet finger-stick devices. They also emphasise the risk of blood regurgitation into insulin cartridges. [ABSTRACT FROM AUTHOR]

Published
2021

47. Length of stay for childbirth in Trentino (North-East of Italy): the impact of maternal characteristics and organizational features of the maternity unit on the probability of early discharge of healthy, term infants.

Author

Pertile, Riccardo, Pavanello, Lucia, Soffiati, Massimo, Manica, Laura, and Piffer, Silvano

Subjects
LENGTH of stay in hospitals, HOSPITAL admission & discharge, CONTINUUM of care, CHILDBIRTH, CESAREAN section, DELIVERY (Obstetrics), HOSPITAL wards, DURATION of pregnancy, PROBABILITY theory, LOGISTIC regression analysis, DISCHARGE planning, RETROSPECTIVE studies
Abstract

Early discharge (ED) of healthy term infants has become a common practice due to current social and economic needs. The primary objective of the present study was to evaluate trends in early discharge of healthy term neonates (≥ 37 gestational weeks) by delivery method (cesarean and vaginal) in maternity units in the Province of Trento. The secondary objective was to identify the socio-demographic characteristics (including the area of residence and distance from the designated hospital) and clinical characteristics of mothers whose infants were discharged early. This retrospective study reviewed records of live births from 2006 to 2016, for a total of 45, 314 healthy term infants. The trend for ED grew significantly during the period 2006-2016, for both cesarean and vaginal deliveries. The multiple logistic regression analysis shows how the determinants of ED are maternal age, birth order, citizenship of mother, maternal smoking, maternal employment status, and the number of births at the hospital on the day of birth.Conclusion: The post-partum length of stay should be adjusted based on the characteristics and needs of the mother-infant dyad, identifying the criteria for safe discharge. In Trento, various procedures and programs are becoming more uniform today with the intention to provide family assistance service. What is Known: • Admission for childbirth is one of the primary causes of hospitalization in industrialized countries. • The length of stay for childbirth has been steadily declining in recent decades, with the aim of reducing costs while also demedicalizing pregnancy. What is New: • A higher rate of early discharge (ED) was recorded for neonates of women having foreign citizenship, < 30 years, pluriparous, smoked during pregnancy, housewife, and, if emplyed, entrepreneurs, self-employed professionals or managers. • ED was more common when the new mother gave birth on a day in which there was a higher number of births at the hospital, indicating overcrowding in the maternity unit. [ABSTRACT FROM AUTHOR]

Published
2018
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