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2. CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy

Author

Dell’Isola, Giovanni Battista, Fattorusso, Antonella, Pisani, Francesco, Mastrangelo, Mario, Cordelli, Duccio Maria, Pavone, Piero, Parisi, Pasquale, Ferretti, Alessandro, Operto, Francesca Felicia, Elia, Maurizio, Carotenuto, Marco, Pruna, Dario, Matricardi, Sara, Spezia, Elisabetta, Spalice, Alberto, Scorrano, Giovanna, Savasta, Salvatore, Prontera, Paolo, Di Cara, Giuseppe, Fruttini, Daniela, Salpietro, Vincenzo, Striano, Pasquale, and Verrotti, Alberto

Published
2024
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4. Correction to: CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy

Author

Dell’Isola, Giovanni Battista, Fattorusso, Antonella, Pisani, Francesco, Mastrangelo, Mario, Cordelli, Duccio Maria, Pavone, Piero, Parisi, Pasquale, Ferretti, Alessandro, Operto, Francesca Felicia, Elia, Maurizio, Carotenuto, Marco, Pruna, Dario, Matricardi, Sara, Spezia, Elisabetta, Spalice, Alberto, Scorrano, Giovanna, Savasta, Salvatore, Prontera, Paolo, Di Cara, Giuseppe, Fruttini, Daniela, Salpietro, Vincenzo, Striano, Pasquale, and Verrotti, Alberto

Published
2024
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5. Tuning the Berry curvature in 2D Perovskite

Author

Polimeno, Laura, De Giorgi, Milena, Lerario, Giovanni, De Marco, Luisa, Dominici, Lorenzo, Ardizzone, Vincenzo, Pugliese, Marco, Prontera, Carmela T., Maiorano, Vincenzo, Moliterni, Anna, Giannini, Cinzia, Olieric, Vincent, Gigli, Giuseppe, Ballarini, Dario, Solnyshkov, Dmitry, Malpuech, Guillaume, and Sanvitto, Daniele

Subjects
Physics - Optics, Condensed Matter - Mesoscale and Nanoscale Physics
Abstract

Topological physics and in particular its connection with artificial gauge fields is a forefront topic in different physical systems, ranging from cold atoms to photonics and more recently semiconductor dressed exciton-photon states, called polaritons. Engineering the energy dispersion of polaritons in microcavities through nanofabrication or exploiting the intrinsic material and cavity anisotropies has demonstrated many intriguing effects related to topology and emergent gauge fields. Here, we show that we can control the Berry curvature distribution of polariton bands in a strongly coupled organic-inorganic 2D perovskite single crystal. The spatial anisotropy of the perovskite crystal combined with photonic spin-orbit coupling make emerge two Hamilton's diabolical points in the dispersion. The application of an external magnetic field breaks time reversal symmetry thanks to the exciton Zeeman splitting. It splits the diabolical points degeneracy. The resulting bands show non-zero integral Berry curvature which we directly measure by state tomography. Crucially, we show that we can control the Berry curvature distribution in the band, the so-called band geometry, within the same microcavity., Comment: 30 pages, 10 figures

Published
2020
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6. Observation of two thresholds leading to polariton condensation in 2D hybrid perovskites

Author

Polimeno, Laura, Fieramosca, Antonio, Lerario, Giovanni, Cinquino, Marco, De Giorgi, Milena, Ballarini, Dario, Todisco, Francesco, Dominici, Lorenzo, Ardizzone, Vincenzo, Pugliese, Marco, Prontera, Carmela T., Maiorano, Vincenzo, Gigli, Giuseppe, De Marco, Luisa, and Sanvitto, Daniele

Subjects
Physics - Optics, Condensed Matter - Mesoscale and Nanoscale Physics
Abstract

Two dimensional (2D) perovskites are promising materials for photonic applications, given their outstanding nonlinear optical properties, ease of fabrication and versatility. In particular, exploiting their high oscillator strength, the crystalline form of 2D perovskites can be used as excitonic medium in optical microcavities, allowing for the study of their optical properties in the strong light-matter coupling regime. While polariton condensation has been observed in different materials at room temperature, here we observe for the first time two distinct threshold processes in a 2D perovskite, a material that has never shown spontaneous phase transition up to now. In particular, we demonstrate lasing from the bi-exciton state which contributes to populate the lower polariton branch and, at higher excitation powers, eventually leads to the formation of a polariton condensate. The emission linewidth narrowing and a spatial coherence over 50 x 50 um2 area are the smoking gun, the formation of a quantum coherent state in 2D hybrid perovskite. Our results not only show the formation of a polariton condensate in 2D perovskites but they are also crucial for the understanding of the physical mechanisms that leads to coherent phase transition in perovskite-based polariton microcavities.

Published
2020
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11. FOXI3 pathogenic variants cause one form of craniofacial microsomia

Author

Mao, Ke, Borel, Christelle, Ansar, Muhammad, Jolly, Angad, Makrythanasis, Periklis, Froehlich, Christine, Iwaszkiewicz, Justyna, Wang, Bingqing, Xu, Xiaopeng, Li, Qiang, Blanc, Xavier, Zhu, Hao, Chen, Qi, Jin, Fujun, Ankamreddy, Harinarayana, Singh, Sunita, Zhang, Hongyuan, Wang, Xiaogang, Chen, Peiwei, Ranza, Emmanuelle, Paracha, Sohail Aziz, Shah, Syed Fahim, Guida, Valentina, Piceci-Sparascio, Francesca, Melis, Daniela, Dallapiccola, Bruno, Digilio, Maria Cristina, Novelli, Antonio, Magliozzi, Monia, Fadda, Maria Teresa, Streff, Haley, Machol, Keren, Lewis, Richard A., Zoete, Vincent, Squeo, Gabriella Maria, Prontera, Paolo, Mancano, Giorgia, Gori, Giulia, Mariani, Milena, Selicorni, Angelo, Psoni, Stavroula, Fryssira, Helen, Douzgou, Sofia, Marlin, Sandrine, Biskup, Saskia, De Luca, Alessandro, Merla, Giuseppe, Zhao, Shouqin, Cox, Timothy C., Groves, Andrew K., Lupski, James R., Zhang, Qingguo, Zhang, Yong-Biao, and Antonarakis, Stylianos E.

Published
2023
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13. Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances

Author

Pignata, Laura, Cecere, Francesco, Verma, Ankit, Hay Mele, Bruno, Monticelli, Maria, Acurzio, Basilia, Giaccari, Carlo, Sparago, Angela, Hernandez Mora, Jose Ramon, Monteagudo-Sánchez, Ana, Esteller, Manel, Pereda, Arrate, Tenorio-Castano, Jair, Palumbo, Orazio, Carella, Massimo, Prontera, Paolo, Piscopo, Carmelo, Accadia, Maria, Lapunzina, Pablo, Cubellis, Maria Vittoria, de Nanclares, Guiomar Perez, Monk, David, Riccio, Andrea, and Cerrato, Flavia

Published
2022
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15. Direct thrombectomy for stroke in the presence of absolute exclusion criteria for thrombolysis

Author

Cappellari, Manuel, Pracucci, Giovanni, Forlivesi, Stefano, Saia, Valentina, Limbucci, Nicola, Nencini, Patrizia, Inzitari, Domenico, Da Ros, Valerio, Sallustio, Fabrizio, Vallone, Stefano, Bigliardi, Guido, Zini, Andrea, Vinci, Sergio Lucio, Dell’Aera, Cristina, Bracco, Sandra, Cioni, Samuele, Tassi, Rossana, Bergui, Mauro, Naldi, Andrea, Carità, Giuseppe, Azzini, Cristiano, Casetta, Ilaria, Gasparotti, Roberto, Magoni, Mauro, Castellan, Lucio, Finocchi, Cinzia, Menozzi, Roberto, Scoditti, Umberto, Causin, Francesco, Viaro, Federica, Puglielli, Edoardo, Casalena, Alfonsina, Ruggiero, Maria, Biguzzi, Sara, Castellano, Davide, Cavallo, Roberto, Lazzarotti, Guido Andrea, Orlandi, Giovanni, Sgreccia, Alessandro, Denaro, Maria Federica, Cavasin, Nicola, Critelli, Adriana, Ciceri, Elisa Francesca Maria, Bonetti, Bruno, Chiumarulo, Luigi, Petruzzelli, Marco, Pellegrino, Carlo, Carimati, Federico, Burdi, Nicola, Prontera, Maria Pia, Auteri, Wiliam, Petrone, Alfredo, Guidetti, Giulio, Nicolini, Ettore, Ganci, Giuseppe, Sugo, Annalisa, Filauri, Pietro, Sacco, Simona, Squassina, Guido, Invernizzi, Paolo, Nuzzi, Nunzio Paolo, Corato, Manuel, Amistà, Pietro, Gentile, Mauro, Barbero, Stefano, Schirru, Federica, Craparo, Giuseppe, Mannino, Marina, Simonetti, Luigi, Mangiafico, Salvatore, and Toni, Danilo

Published
2020
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17. Optical detection of infiltration during peripheral intravenous infusion in neonates

Author

D’Andrea, Vito, Prontera, Giorgia, Carlino, Riccardo, Di Trani, Helena, Carlettini, Ilaria, Pittiruti, Mauro, and Vento, Giovanni

Abstract

Background: Infiltration and extravasation are common complications during peripheral intravenous infusion in the neonatal intensive care unit, and diagnosis is usually clinical, by inspection and palpation. Delay in diagnosis due to poor surveillance or misinterpretation of clinical signs may carry serious damage to the tissues of the neonate. Recently, a novel technology based on optical detection of infiltration has become available.Methods: We have studied two groups of term and preterm infants receiving non-vesicant intravenous infusions by the peripheral route (24G short peripheral cannulas), and we evaluated the incidence of infiltration. In the first group, we have compared the clinical detection of infiltration versus the detection obtained by a novel optical device, blinding the alarms of the device. In the second group, the comparison was carried out without blinding the alarms.Results: Of the neonates included in this study, 60% were female, 86% had a gestational age <37 weeks (34 ± 2.5 weeks) and a mean birth weight of 2.08 ± 0.4 g. Total recorded monitoring time was 1318 h and average monitoring time for each short peripheral cannula was 26.4 h. The incidence of infiltration was 80%, most of them having a Millam score <2. The novel device showed an overall sensitivity of 88.9% in detecting infiltration. Specificity was 84.4%, as evaluated assuming as standard the clinical diagnosis. Interestingly, in cases of documented infiltration, the event was diagnosed by the optical device approximately 6 h before the clinical diagnosis.Conclusions: Continuous monitoring of the insertion site, as automatically ensured by this novel optical device, may play a complementary role in early detection of infiltration, even if the percentage of false positives and false negatives suggests that periodic clinical assessment by expert nurses cannot be omitted.

Published
2024
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18. Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Author

Ciolfi, Andrea, Foroutan, Aidin, Capuano, Alessandro, Pedace, Lucia, Travaglini, Lorena, Pizzi, Simone, Andreani, Marco, Miele, Evelina, Invernizzi, Federica, Reale, Chiara, Panteghini, Celeste, Iascone, Maria, Niceta, Marcello, Gavrilova, Ralitza H., Schultz-Rogers, Laura, Agolini, Emanuele, Bedeschi, Maria Francesca, Prontera, Paolo, Garibaldi, Matteo, Galosi, Serena, Leuzzi, Vincenzo, Soliveri, Paola, Olson, Rory J., Zorzi, Giovanna S., Garavaglia, Barbara M., Tartaglia, Marco, and Sadikovic, Bekim

Published
2021
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22. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Author

Pizzo, Lucilla, Jensen, Matthew, Polyak, Andrew, Rosenfeld, Jill A., Mannik, Katrin, Krishnan, Arjun, McCready, Elizabeth, Pichon, Olivier, Le Caignec, Cedric, Van Dijck, Anke, Pope, Kate, Voorhoeve, Els, Yoon, Jieun, Stankiewicz, Paweł, Cheung, Sau Wai, Pazuchanics, Damian, Huber, Emily, Kumar, Vijay, Kember, Rachel L., Mari, Francesca, Curró, Aurora, Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Mandarà, Luana, Vincent, Marie, Nizon, Mathilde, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Martin-Coignard, Dominique, Mosca-Boidron, Anne-Laure, Caberg, Jean-Hubert, Bucan, Maja, Zeesman, Susan, Nowaczyk, Małgorzata J. M., Lefebvre, Mathilde, Faivre, Laurence, Callier, Patrick, Skinner, Cindy, Keren, Boris, Perrine, Charles, Prontera, Paolo, Marle, Nathalie, Renieri, Alessandra, Reymond, Alexandre, Kooy, R. Frank, Isidor, Bertrand, Schwartz, Charles, Romano, Corrado, Sistermans, Erik, Amor, David J., Andrieux, Joris, and Girirajan, Santhosh

Published
2019
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24. Author Correction: Tuning of the Berry curvature in 2D perovskite polaritons

Author

Polimeno, Laura, Lerario, Giovanni, De Giorgi, Milena, De Marco, Luisa, Dominici, Lorenzo, Todisco, Francesco, Coriolano, Annalisa, Ardizzone, Vincenzo, Pugliese, Marco, Prontera, Carmela T., Maiorano, Vincenzo, Moliterni, Anna, Giannini, Cinzia, Olieric, Vincent, Gigli, Giuseppe, Ballarini, Dario, Xiong, Qihua, Fieramosca, Antonio, Solnyshkov, Dmitry D., Malpuech, Guillaume, and Sanvitto, Daniele

Published
2021
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25. FOXI3 pathogenic variants cause one form of craniofacial microsomia

Author

Mao, K. Borel, C. Ansar, M. Jolly, A. Makrythanasis, P. Froehlich, C. Iwaszkiewicz, J. Wang, B. Xu, X. Li, Q. Blanc, X. Zhu, H. Chen, Q. Jin, F. Ankamreddy, H. Singh, S. Zhang, H. Wang, X. Chen, P. Ranza, E. Paracha, S.A. Shah, S.F. Guida, V. Piceci-Sparascio, F. Melis, D. Dallapiccola, B. Digilio, M.C. Novelli, A. Magliozzi, M. Fadda, M.T. Streff, H. Machol, K. Lewis, R.A. Zoete, V. Squeo, G.M. Prontera, P. Mancano, G. Gori, G. Mariani, M. Selicorni, A. Psoni, S. Fryssira, H. Douzgou, S. Marlin, S. Biskup, S. De Luca, A. Merla, G. Zhao, S. Cox, T.C. Groves, A.K. Lupski, J.R. Zhang, Q. Zhang, Y.-B. Antonarakis, S.E. and Mao, K. Borel, C. Ansar, M. Jolly, A. Makrythanasis, P. Froehlich, C. Iwaszkiewicz, J. Wang, B. Xu, X. Li, Q. Blanc, X. Zhu, H. Chen, Q. Jin, F. Ankamreddy, H. Singh, S. Zhang, H. Wang, X. Chen, P. Ranza, E. Paracha, S.A. Shah, S.F. Guida, V. Piceci-Sparascio, F. Melis, D. Dallapiccola, B. Digilio, M.C. Novelli, A. Magliozzi, M. Fadda, M.T. Streff, H. Machol, K. Lewis, R.A. Zoete, V. Squeo, G.M. Prontera, P. Mancano, G. Gori, G. Mariani, M. Selicorni, A. Psoni, S. Fryssira, H. Douzgou, S. Marlin, S. Biskup, S. De Luca, A. Merla, G. Zhao, S. Cox, T.C. Groves, A.K. Lupski, J.R. Zhang, Q. Zhang, Y.-B. Antonarakis, S.E.

Abstract

Craniofacial microsomia (CFM; also known as Goldenhar syndrome), is a craniofacial developmental disorder of variable expressivity and severity with a recognizable set of abnormalities. These birth defects are associated with structures derived from the first and second pharyngeal arches, can occur unilaterally and include ear dysplasia, microtia, preauricular tags and pits, facial asymmetry and other malformations. The inheritance pattern is controversial, and the molecular etiology of this syndrome is largely unknown. A total of 670 patients belonging to unrelated pedigrees with European and Chinese ancestry with CFM, are investigated. We identify 18 likely pathogenic variants in 21 probands (3.1%) in FOXI3. Biochemical experiments on transcriptional activity and subcellular localization of the likely pathogenic FOXI3 variants, and knock-in mouse studies strongly support the involvement of FOXI3 in CFM. Our findings indicate autosomal dominant inheritance with reduced penetrance, and/or autosomal recessive inheritance. The phenotypic expression of the FOXI3 variants is variable. The penetrance of the likely pathogenic variants in the seemingly dominant form is reduced, since a considerable number of such variants in affected individuals were inherited from non-affected parents. Here we provide suggestive evidence that common variation in the FOXI3 allele in trans with the pathogenic variant could modify the phenotypic severity and accounts for the incomplete penetrance. © 2023, The Author(s).

Published
2023

26. IRF2BPL: A new genotype for progressive myoclonus epilepsies

Author

Costa, C, Oliver, KL, Calvello, C, Cameron, JM, Imperatore, V, Tonelli, L, Colavito, D, Franceschetti, S, Canafoglia, L, Berkovic, SF, Prontera, P, Costa, C, Oliver, KL, Calvello, C, Cameron, JM, Imperatore, V, Tonelli, L, Colavito, D, Franceschetti, S, Canafoglia, L, Berkovic, SF, and Prontera, P

Abstract

The progressive myoclonus epilepsies (PMEs) are a heterogeneous group of neurodegenerative disorders, typically presenting in late childhood. An etiologic diagnosis is achieved in about 80% of patients with PME, and genome-wide molecular studies on remaining, well-selected, undiagnosed cases can further dissect the underlying genetic heterogeneity. Through whole-exome sequencing (WES), we identified pathogenic truncating variants in the IRF2BPL gene in two, unrelated patients presenting with PME. IRF2BPL belongs to the transcriptional regulators family and it is expressed in multiple human tissues, including the brain. Recently missense and nonsense mutations in IRF2BPL were found in patients presenting with developmental delay and epileptic encephalopathy, ataxia, and movement disorders, but none with clear PME. We identified 13 other patients in the literature with myoclonic seizures and IRF2BPL variants. There was no clear genotype-phenotype correlation. With the description of these cases, the IRF2BPL gene should be considered in the list of genes to be tested in the presence of PME, in addition to patients with neurodevelopmental or movement disorders.

Published
2023

28. Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder

Author

Prontera, Paolo, Serino, Domenico, and Caldini, Bernardo

Abstract

The duplication of the Williams-Beuren syndrome (WBS) region (7q11.23) is a copy number variant associated with autism spectrum disorder (ASD). One of the most intriguing aspects is that the reciprocal microdeletion causes WBS, characterized by hypersociability, marked empathy, and a relative capacity in verbal short-term memory and language. Herein, we studied, by using functional morphological and volumetric magnetic resonance, a 17-year-old male patient who displays a de novo 7q11.23 duplication and ASD. The limbic system of the patient appeared hypo-functional, while the total brain volume was increased, thus contrasting, in an opposite and intriguing manner, with the global brain volume reduction reported in WBS. Even if these findings come from the analysis of a single patient and, therefore, have to be considered preliminary results, they encourage carrying on further functional and volumetric studies in patients with 7q11.23 duplication, to fully elucidate the role of this gene-dosage alteration on brain development and limbic system function.

Published
2014
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32. Rapid Superficial Vein Assessment (RaSuVA): A pre-procedural systematic evaluation of superficial veins to optimize venous catheterization in neonates

Author

D’Andrea, Vito, Prontera, Giorgia, Pezza, Lucilla, Barone, Giovanni, Vento, Giovanni, and Pittiruti, Mauro

Abstract

Background: Placement of peripheral intra-venous cannulas and epicutaneo-caval catheters is routinely performed in in Neonatal Intensive Care Unit (NICU), and both devices require visible superficial veins easy to cannulate. NICU patients are intrinsically characterized by poor and fragile vein asset, so that puncture and cannulation of superficial veins is often a challenge even for trained clinicians and cannulation frequently results in a stressful, painful, difficult procedure.Methods and results: Rapid Superficial Vein Assessment is meant to offer a systematic pre-procedural evaluation of all superficial veins of the newborn, so to allow a rational choice of the best insertion site, tailored on the single patient, and optimized for the specific type of venous access device. The superficial veins are examined systematically, both with and without NIR technology, exploring seven skin areas in the following order: (1) medial malleolus, (2) lateral malleolus, (3) retro-popliteal fossa, (4) back of the hand and wrist, (5) antecubital fossa, (6) anterior scalp surface, and (7) posterior scalp surface.Conclusions: The aim of the protocol is to increase the first attempt success rate and reduce the duration of the procedure, the number of attempts for single patient and possibly to limit complications, stress, and pain in neonates.

Published
2024
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33. The NRRP and the Italian energy transition. Interest groups in implementation, between structural power, insiderness and new coalitions

Author

Lizzi, Renata and Prontera, Andrea

Abstract

ABSTRACTItalian energy policy has traditionally been significantly influenced by large state-owned companies, commonly referred to as national champions, as well as by fossil fuel interests. The impact of the energy transition on this situation has been limited, as the adoption of renewables in Italy has not been accompanied by the emergence of a robust green coalition. The National Recovery and Resilience Plan provided an opportunity to address this situation. Through process tracing and interviews with key policy actors, this article examines the implementation of energy transition measures outlined in the plan during the recent administrations of Draghi and Meloni. The analysis underscores the changing role of relevant interest groups and business actors in this sector. It reveals that the structural power of national champions and the influential position of core insiders have not diminished, particularly following adjustments to the recovery plan prompted by the Russia-Ukraine war. Nonetheless, the article notes that green outsiders have, through coalition dynamics, increased their involvement in policy implementation. Additionally, it emphasizes that the unfolding energy transition is driving a reconfiguration of interests that transcends the traditional divide between fossil fuels and renewable energy.

Published
2024
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35. Eumelanin-Based Organic Bioelectronics: Myth or Reality?

Author

Barra, Mario, Bonadies, Irene, Carfagna, Cosimo, Cassinese, Antonio, Cimino, Francesca, Crescenzi, Orlando, Criscuolo, Valeria, Marco, d’Ischia, Maglione, Maria Grazia, Manini, Paola, Migliaccio, Ludovico, Musto, Anna, Napolitano, Alessandra, Navarra, Angelica, Panzella, Lucia, Parisi, Silvia, Pezzella, Alessandro, Prontera, Carmela Tania, and Tassini, Paolo

Published
2016
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36. Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

Author

Carrozzo, Rosalba, Verrigni, Daniela, Rasmussen, Magnhild, de Coo, Rene, Amartino, Hernan, Bianchi, Marzia, Buhas, Daniela, Mesli, Samir, Naess, Karin, Born, Alfred Peter, Woldseth, Berit, Prontera, Paolo, Batbayli, Mustafa, Ravn, Kirstine, Joensen, Fróði, Cordelli, Duccio M., Santorelli, Filippo Maria, Tulinius, Mar, Darin, Niklas, Duno, Morten, Jouvencel, Philippe, Burlina, Alberto, Stangoni, Gabriela, Bertini, Enrico, Redonnet-Vernhet, Isabelle, Wibrand, Flemming, Dionisi-Vici, Carlo, Uusimaa, Johanna, Vieira, Paivi, Osorio, Andrés Nascimento, McFarland, Robert, Taylor, Robert W., Holme, Elisabeth, and Ostergaard, Elsebet

Published
2016
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39. Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

Author

Rusconi, Daniela, Negri, Gloria, Colapietro, Patrizia, Picinelli, Chiara, Milani, Donatella, Spena, Silvia, Magnani, Cinzia, Silengo, Margherita Cirillo, Sorasio, Lorena, Curtisova, Vaclava, Cavaliere, Maria Luigia, Prontera, Paolo, Stangoni, Gabriela, Ferrero, Giovanni Battista, Biamino, Elisa, Fischetto, Rita, Piccione, Maria, Gasparini, Paolo, Salviati, Leonardo, Selicorni, Angelo, Finelli, Palma, Larizza, Lidia, and Gervasini, Cristina

Published
2015
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40. Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

Author

Schirwani, S., Albaba, S., Carere, D.A., Sacoto, M.J. Guillen, Zamora, F. Milan, Si, Y., Rabin, R., Pappas, J., Renaud, D.L., Hauser, N., Reid, E., Blanchet, P., Foulds, N., Dixit, A., Fisher, R., Armstrong, R., Isidor, B., Cogne, B., Vergano, S. Schrier, Demirdas, S., Dykzeul, N., Cohen, J.S., Grand, K., Morel, D., Slavotinek, A., Albassam, H.F., Naik, S., Dean, J., Ragge, N., Cinzia, C., Tedesco, M.G., Harrison, R.E., Bouman, A., Palen, E., Challman, T.D., Willemsen, M.H., Vogt, J., Cunniff, C., Bergstrom, K., Walia, J.S., Bruel, A.L., Kini, U., Alkuraya, F.S., Slegesky, V., Meeks, N., Girotto, P., Johnson, D., Newbury-Ecob, R., Ockeloen, C.W., Prontera, P., Lynch, S.A., Li, D., Graham, J.M., Balasubramanian, M., and Clinical Genetics

Subjects
Adult, Male, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Adolescent, Hypertelorism, Developmental Disabilities, speech impairment, Genetic Variation, ASXL3, BRPS, Young Adult, Phenotype, ASXL3-related syndrome, Bainbridge–Ropers syndrome, Neurodevelopmental Disorders, intellectual disability, Child, Preschool, Mutation, Humans, Muscle Hypotonia, Female, Genetic Predisposition to Disease, Child, Transcription Factors
Abstract

Item does not contain fulltext The study aimed at widening the clinical and genetic spectrum of ASXL3-related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. In this international collaborative study, we have undertaken a detailed clinical and molecular analysis of 45 previously unpublished individuals with ASXL3-related syndrome, as well as a review of all previously published individuals. We have reviewed the rather limited functional characterization of pathogenic variants in ASXL3 and discuss current understanding of the consequences of the different ASXL3 variants. In this comprehensive analysis of ASXL3-related syndrome, we define its natural history and clinical evolution occurring with age. We report familial ASXL3 pathogenic variants, characterize the phenotype in mildly affected individuals and discuss nonpenetrance. We also discuss the role of missense variants in ASXL3. We delineate a variable but consistent phenotype. The most characteristic features are neurodevelopmental delay with consistently limited speech, significant neuro-behavioral issues, hypotonia, and feeding difficulties. Distinctive features include downslanting palpebral fissures, hypertelorism, tubular nose with a prominent nasal bridge, and low-hanging columella. The presented data will inform clinical management of individuals with ASXL3-related syndrome and improve interpretation of new ASXL3 sequence variants.

Published
2021
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41. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Author

Levy, MA, McConkey, H, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Bralo, MP, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, BR, Elting, MW, Faivre, L, Fee, T, Fletcher, RS, Cherik, F, Foroutan, A, Friez, MJ, Gervasini, C, Haghshenas, S, Hilton, BA, Jenkins, Z, Kaur, S, Lewis, S, Louie, RJ, Maitz, S, Milani, D, Morgan, AT, Oegema, R, Østergaard, E, Pallares, NR, Piccione, M, Pizzi, S, Plomp, AS, Poulton, C, Reilly, J, Relator, R, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, GWE, Santos-Simarro, F, Schijns, J, Squeo, GM, St John, M, Thauvin-Robinet, C, Traficante, G, van der Sluijs, PJ, Vergano, SA, Vos, N, Walden, KK, Azmanov, D, Balci, T, Banka, S, Gecz, J, Henneman, P, Lee, JA, Mannens, MMAM, Roscioli, T ; https://orcid.org/0000-0003-1502-5000, Siu, V, Amor, DJ, Baynam, G, Bend, EG, Boycott, K, Brunetti-Pierri, N, Campeau, PM, Christodoulou, J, Dyment, D, Esber, N, Fahrner, JA, Fleming, MD, Genevieve, D, Kerrnohan, KD, McNeill, A, Menke, LA, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, SA, Stevenson, RE, Vitobello, A, Tartaglia, M, Alders, M, Tedder, ML, Sadikovic, B, Levy, MA, McConkey, H, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Bralo, MP, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, BR, Elting, MW, Faivre, L, Fee, T, Fletcher, RS, Cherik, F, Foroutan, A, Friez, MJ, Gervasini, C, Haghshenas, S, Hilton, BA, Jenkins, Z, Kaur, S, Lewis, S, Louie, RJ, Maitz, S, Milani, D, Morgan, AT, Oegema, R, Østergaard, E, Pallares, NR, Piccione, M, Pizzi, S, Plomp, AS, Poulton, C, Reilly, J, Relator, R, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, GWE, Santos-Simarro, F, Schijns, J, Squeo, GM, St John, M, Thauvin-Robinet, C, Traficante, G, van der Sluijs, PJ, Vergano, SA, Vos, N, Walden, KK, Azmanov, D, Balci, T, Banka, S, Gecz, J, Henneman, P, Lee, JA, Mannens, MMAM, Roscioli, T ; https://orcid.org/0000-0003-1502-5000, Siu, V, Amor, DJ, Baynam, G, Bend, EG, Boycott, K, Brunetti-Pierri, N, Campeau, PM, Christodoulou, J, Dyment, D, Esber, N, Fahrner, JA, Fleming, MD, Genevieve, D, Kerrnohan, KD, McNeill, A, Menke, LA, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, SA, Stevenson, RE, Vitobello, A, Tartaglia, M, Alders, M, Tedder, ML, and Sadikovic, B

Abstract

Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of genomic variation may involve unique, disorder-specific, genomic DNA methylation episignatures. In this study, we describe 19 novel episignature disorders and compare the findings alongside 38 previously established episignatures for a total of 57 episignatures associated with 65 genetic syndromes. We demonstrate increasing resolution and specificity ranging from protein complex, gene, sub-gene, protein domain, and even single nucleotide-level Mendelian episignatures. We show the power of multiclass modeling to develop highly accurate and disease-specific diagnostic classifiers. This study significantly expands the number and spectrum of disorders with detectable DNA methylation episignatures, improves the clinical diagnostic capabilities through the resolution of unsolved cases and the reclassification of variants of unknown clinical significance, and provides further insight into the molecular etiology of Mendelian conditions.

Published
2022

43. The intracavitary ECG method for tip location of ultrasound-guided centrally inserted central catheter in neonates

Author

D’Andrea, Vito, Pezza, Lucilla, Prontera, Giorgia, Ancora, Gina, Pittiruti, Mauro, Vento, Giovanni, and Barone, Giovanni

Abstract

Background: The correct position of the tip of a central venous access device is important in all patients, and especially in neonates. The traditional method of tip location (approximated intra-procedural length estimation + post procedural chest X-ray) is currently considered inaccurate and not cost-effective by most recent guidelines, which recommend the adoption of tip location by intracavitary electrocardiography (IC-ECG) whenever possible.Methods: This study prospectively investigated the applicability, the feasibility, the accuracy, and the safety IC-ECG for tip location in neonates requiring insertion of ultrasound-guided centrally inserted central venous catheters (CICCs) with caliber 3Fr or more. All catheter tip locations were verified using simultaneously both IC-ECG and ultrasound-based tip location, using the Neo-ECHOTIP protocol.Results: A total of 105 neonates were enrolled. The applicability of IC-ECG was 100% since a P wave was evident on the surface ECG of all neonates recruited for the study. The feasibility was also 100% since an increase of the P-wave was detected in all cases. The accuracy was also 100%, since a perfect match between IC-ECG based tip location and ultrasound-based tip location was found. There were no adverse events directly or indirectly related to the IC-ECG technique; no arrhythmias occurred.Conclusions: When applied to ultrasound guided CICCs, tip location by IC-ECG is applicable and feasible in neonates, and it is safe and accurate.

Published
2023
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45. Integrating BRCA testing into routine prostate cancer care: a multidisciplinary approach by SIUrO and other Italian Scientific Societies

Author

Mammone, Giulia, Borghesi, Simona, Borsellino, Nicolò, Caliò, Anna, Ceccarelli, Roberta, Cimadamore, Alessia, Conti, Giario Natale, Cortesi, Laura, D’Angelillo, Rolando Maria, Facchini, Gaetano, Incorvaia, Lorena, Lapini, Alberto, Mearini, Luigi, Pappagallo, Giovanni, Prontera, Paolo, Turchetti, Daniela, Sirgiovanni, Grazia, and Bracarda, Sergio

Published
2025
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47. The necessary reorientation of Italian energy policy

Author

Prontera, Andrea and Lizzi, Renata

Abstract

ABSTRACTThe 2022 Russian invasion of Ukraine triggered profound changes in European energy policy. This was particularly the case for a country like Italy, highly dependent on Russian gas supplies and traditionally an energy partner of Moscow. In this article, we trace the major policy measures enacted by the Draghi government to address security-of-supply risks and foster the development of renewable energy. Moreover, we highlight a number of continuities and differences that emerged in these areas with the appointment of the new government led by Giorgia Meloni. Finally, we discuss some possible longer-term implications and risks for Italian energy policy in the wake of the innovations introduced after the invasion. These include a return of the state in energy governance, the shift of Italian foreign energy policy towards the Mediterranean and Africa as well as unsolved problems in the management of centre-periphery relations for accelerating the country’s energy transition.

Published
2023
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49. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

Author

Dyment, D. A. (David A.), O'Donnell-Luria, A. (Anne), Agrawal, P. B. (Pankaj B.), Coban Akdemir, Z. (Zeynep), Aleck, K. A. (Kyrieckos A.), Antaki, D. (Danny), Al Sharhan, H. (Hind), Au, P. B. (Ping-Yee B.), Aydin, H. (Hatip), Beggs, A. H. (Alan H.), Bilguvar, K. (Kaya), Boerwinkle, E. (Eric), Brand, H. (Harrison), Brownstein, C. A. (Catherine A.), Buyske, S. (Steve), Chodirker, B. (Bernard), Choi, J. (Jungmin), Chudley, A. E. (Albert E.), Clericuzio, C. L. (Carol L.), Cox, G. F. (Gerald F.), Curry, C. (Cynthia), De Boer, E. (Elke), De Vries, B. B. (Bert B. A.), Dunn, K. (Kathryn), Dutmer, C. M. (Cullen M.), England, E. M. (Eleina M.), Fahrner, J. A. (Jill A.), Geckinli, B. B. (Bilgen B.), Genetti, C. A. (Casie A.), Gezdirici, A. (Alper), Gibson, W. T. (William T.), Gleeson, J. G. (Joseph G.), Greenberg, C. R. (Cheryl R.), Hall, A. (April), Hamosh, A. (Ada), Hartley, T. (Taila), Jhangiani, S. N. (Shalini N.), Karaca, E. (Ender), Kernohan, K. (Kristin), Lauzon, J. L. (Julie L.), Lewis, M. E. (M. E. Suzanne), Lowry, R. B. (R. Brian), López-Giráldez, F. (Francesc), Matise, T. C. (Tara C.), McEvoy-Venneri, J. (Jennifer), McInnes, B. (Brenda), Mhanni, A. (Aziz), Garcia Minaur, S. (Sixto), Moilanen, J. (Jukka), Nguyen, A. (An), Nowaczyk, M. J. (Malgorzata J. M.), Posey, J. E. (Jennifer E.), Õunap, K. (Katrin), Pehlivan, D. (Davut), Pajusalu, S. (Sander), Penney, L. S. (Lynette S.), Poterba, T. (Timothy), Prontera, P. (Paolo), Rodovalho Doriqui, M. J. (Maria Juliana), Sawyer, S. L. (Sarah L.), Sobreira, N. (Nara), Stanley, V. (Valentina), Torun, D. (Deniz), Wargowski, D. (David), Witmer, P. D. (P. Dane), Wong, I. (Isaac), Xing, J. (Jinchuan), Zaki, M. S. (Maha S.), Zhang, Y. (Yeting), C. C. (Care4Rare Consortium), C. F. (Centers For Mendelian Genomics), Boycott, K. M. (Kym M.), Bamshad, M. J. (Michael J.), Nickerson, D. A. (Deborah A.), Blue, E. E. (Elizabeth E.), and Innes, A. M. (A. Micheil)

Subjects
genetic heterogeneity, genome sequencing, Dubowitz syndrome, exome sequencing, microarray
Abstract

Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a “Dubowitz-like” condition, although no single gene has been implicated as responsible for its cause. We have performed exome (ES) or genome sequencing (GS) for 31 individuals clinically diagnosed with DubS. After genome-wide sequencing, rare variant filtering and computational and Mendelian genomic analyses, a presumptive molecular diagnosis was made in 13/27 (48%) families. The molecular diagnoses included biallelic variants in SKIV2L, SLC35C1, BRCA1, NSUN2; de novo variants in ARID1B, ARID1A, CREBBP, POGZ, TAF1, HDAC8, and copy-number variation at1p36.11(ARID1A), 8q22.2(VPS13B), Xp22, and Xq13(HDAC8). Variants of unknown significance in known disease genes, and also in genes of uncertain significance, were observed in 7/27 (26%) additional families. Only one gene, HDAC8, could explain the phenotype in more than one family (N = 2). All but two of the genomic diagnoses were for genes discovered, or for conditions recognized, since the introduction of next-generation sequencing. Overall, the DubS-like clinical phenotype is associated with extensive locus heterogeneity and the molecular diagnoses made are for emerging clinical conditions sharing characteristic features that overlap the DubS phenotype.

Published
2021

50. Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series.

Author

Dell'Isola, Giovanni Battista, Mencaroni, Elisabetta, Prontera, Paolo, Cara, Giuseppe Di, Ferraro, Luigi, Bonanni, Paolo, Carotenuto, Marco, Iapadre, Giulia, Matricardi, Sara, Operto, Francesca, Orsini, Alessandro, Parisi, Pasquale, Pavone, Piero, Salpietro, Vincenzo, Savasta, Salvatore, Striano, Pasquale, and Verrotti, Alberto

Abstract

Purpose: Triple X syndrome, is an often undiagnosed chromosomal abnormality with an incidence of 1/1000 females. Main associated disorders are urogenital malformations, premature ovarian failure or primary amenorrhea, gastrointestinal problems, psychiatric disorders and epilepsy. To date, triple X is not related to a specific epileptic syndrome. Therefore, the purpose of this clinical series is to analyze seizure semiology, electroencephalogram features and the long-term outcome of 13 patients with epilepsy and triple X syndrome.Methods: We retrospectively evaluated the long-term seizure outcome in patients with triple X syndrome who had been referred to 11 Epilepsy Centers in Italy. A close electroclinical follow-up was made for at least 2 years and outcomes were reported.Results: Our case series confirms that epilepsy is not an occasional finding but part of the phenotypic spectrum of this syndrome. The seizure semiology shows an higher prevalence of focal seizures in 62% of patients. EEG findings of focal epileptic activity were reported in 85% of patients. Anti-seizure medications were successful in all our patients whom in most cases were responsive to monotherapy.Conclusion: According to our case series most successful drugs were VPA and LEV. Long term prognosis of epilepsy in our case series was good. Our experience suggests that all triple X patients achieve good seizure control and in 69% of cases normalization of the EEG. [ABSTRACT FROM AUTHOR]

Published
2022
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