المؤلفون: Chiara Panicucci, Maria Cristina Schiaffino, Claudia Nesti, Maria Derchi, Gianluca Trocchio, Mariasavina Severino, Nicola Stagnaro, Enrico Priolo, Federico Zara, Filippo M. Santorelli, Claudio Bruno

المصدر: Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)

مصطلحات موضوعية: Sengers syndrome, AGK gene, Mild phenotype, Long term follow-up, Case report, Pediatrics, RJ1-570

الوصف: Abstract Background Sengers syndrome is characterized by congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis associated with mutations in AGK gene. Clinical course ranges from a severe fatal neonatal form, to a more benign form allowing survival into adulthood, to an isolated form of congenital cataract. Thus far few reported cases have survived the second decade at their latest examination, and no natural history data are available for the disease. Case presentation Here we provide a 20-year follow-up in two siblings with a benign form of Sengers syndrome, expanding the phenotypical spectrum of the disease by reporting a condition of ovarian agenesis. Conclusion To our knowledge, this report provides the first longitudinal data of Sengers syndrome patients.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1824-7288Test

الوصول الحر: https://doaj.org/article/0d3f19fa84244821be31d2f1fda0bffeTest

المؤلفون: Laura Peruzza, Maria Adelaide Romano, Mariangela Guidarelli, Luca Moratto, Marco Garbin, Enrico Priolo

المصدر: Frontiers in Earth Science, Vol 10 (2022)

مصطلحات موضوعية: microearthquake activity, active thrust faulting, Southern Alps (Northern Italy), earthquake detection and location, seismic potential of faults, Science

الوصف: In August 2021, an extremely productive seismic sequence took place in northeastern Italy. Within 1 month, we identified and localized 407 microearthquakes in the area monitored by the local Collalto Seismic Network. This is about 20 times the average monthly rate of events detected in the last decade; 92% of them are clustered near the village of Refrontolo at about 9 km depth (main event a ML2.5, MW2.4). None of the Refrontolo sequence earthquakes were felt by the population. The earthquakes, mostly identified by automatic procedures, were post-processed by manual picking of P, S-phases and polarities; they were localized by different techniques and define a small SE dipping volume that departs from the brittle surface previously enlightened by microseisms and assigned to the NNW dipping Montello Thrust. We interpret the sequence ruptured pre-stressed patches near to failure of sub-vertical, antithetically oriented faults. The unusual productivity rate and precursory foreshock activity support the hypothesis that the Montello system has a relevant aseismic component. We believe that this episode, of no importance from an energetic point of view, is of greatest interest for deciphering the seismic potential of this area and for strengthening automatic microearthquake detection and location procedures.

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/feart.2022.1044296/fullTest; https://doaj.org/toc/2296-6463Test

الوصول الحر: https://doaj.org/article/bb3188dfe22547f58800c03a12eff471Test

المؤلفون: Antonio Scala, Guido Maria Adinolfi, Matteo Picozzi, Francesco Scotto di Uccio, Gaetano Festa, Grazia De Landro, Enrico Priolo, Stefano Parolai, Rosario Riccio, Marco Romanelli

المصدر: Energies, Vol 15, Iss 10, p 3504 (2022)

مصطلحات موضوعية: induced seismicity monitoring, seismic arrays, sensor network technology, microearthquake detection, Technology

الوصف: Seismic monitoring in areas where induced earthquakes could occur is a challenging topic for seismologists due to the generally very low signal to noise ratio. Therefore, the seismological community is devoting several efforts to the development of high-quality networks around the areas where fluid injection and storage and geothermal activities take place, also following the national induced seismicity monitoring guidelines. The use of advanced data mining strategies, such as template matching filters, auto-similarity search, and deep-learning approaches, has recently further fostered such monitoring, enhancing the seismic catalogs and lowering the magnitude of completeness of these areas. In this framework, we carried out an experiment where a small-aperture seismic array was installed within the dense seismic network used for monitoring the gas reservoir of Collalto, in North Italy. The continuous velocimetric data, acquired for 25 days, were analysed through the application of the optimized auto-similarity search technique FAST. The array was conceived as a cost-effective network, aimed at integrating, right above the gas storage site, the permanent high-resolution Collalto Seismic Network. The analysis allowed to detect micro-events down to magnitude Ml = −0.4 within a distance of ~15 km from the array. Our results confirmed that the system based on the array installation and the FAST data analysis might contribute to lowering the magnitude of completeness around the site of about 0.7 units.

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1996-1073/15/10/3504Test; https://doaj.org/toc/1996-1073Test

الوصول الحر: https://doaj.org/article/4445d5cec2bf405aa4aa530265c23c1dTest

المؤلفون: Enrico Priolo, Marco Romanelli, Carla Barnaba, Marco Mucciarelli, Giovanna Laurenzano, Lorella Dall'Olio, Nasser Abu Zeid, Riccardo Caputo, Giovanni Santarato, Luigi Vignola, Carmine Lizza, Paolo Di Bartolomeo

المصدر: Annals of Geophysics, Vol 55, Iss 4 (2012)

مصطلحات موضوعية: Emilia earthquake, Seismic monitoring, Seismic site response, Meteorology. Climatology, QC851-999, Geophysics. Cosmic physics, QC801-809

الوصف: Following the Ml 5.9 earthquake that struck the Emilia area in northern Italy on May 20, 2012, at 02:03:53 UTC, and in co-operation with the personnel of the Municipality of Ferrara and the University of Ferrara, a team of seismologists of the Istituto Nazionale di Oceanografia e Geofisica Sperimentale (OGS; National Institute of Oceanography and Experimental Geophysics) deployed a temporary seismographic network. This consisted of eight portable seismological stations, to record the local earthquakes that occurred during the seismic sequence. The OGS intervention was integrated into the broader action of the emergency response to the earthquake sequence, which was promoted by the National Department of Civil Protection and the Istituto Nazionale di Geofisica e Vulcanologia (INGV; National Institute of Geophysics and Volcanology) [Moretti et al. 2012, this volume]. The aim of the OGS intervention was on the one hand to extend the seismic monitoring area towards the East, to include Ferrara and its surroundings, to be ready in case of migration of the seismicity in that direction, and on the other hand to evaluate the seismic response at the instrumented sites. Some days later, another team of researchers coordinated by the University of Potenza carried out some investigations at a number of sites, and in particular at three of the sites instrumented by the OGS temporary network. […]

وصف الملف: electronic resource

العلاقة: http://www.annalsofgeophysics.eu/index.php/annals/article/view/6172Test; https://doaj.org/toc/1593-5213Test; https://doaj.org/toc/2037-416XTest

الوصول الحر: https://doaj.org/article/f177fb4aba334aa3ab3e628d5af0f98dTest

المؤلفون: Denis SANDRON, Enrico Priolo, Raúl Palau Clares, Viana Poveda Brossard, Simone Marzorati, Eduardo Rafael Diez Zaldivar, Marco Cattaneo

المصدر: Seismological Research Letters. 93:2048-2062

مصطلحات موضوعية: Geophysics

الوصف: The detection level of a seismic network is a measure of its effective ability to record small earthquakes in a given area. It can vary in both space and time and depends on several factors such as meteorological conditions, anthropic noise, local soil conditions—all factors that affect the seismic noise level—as well as the quality and operating condition of the instruments. The ability to estimate the level of detection is of tremendous importance both in the design of a new network and in determining whether a given network can recognize seismicity consistently or needs to be improved in some of its parts. In this article, we determine the detection level of the Cuban seismic network using the empirically estimated seismic noise spectral level at each station site and some theoretical relationships to predict the signal amplitude of a seismic event at individual stations. The minimum local detectable magnitude thus depends on some network parameters such as the signal-to-noise ratio and the number of stations used in the calculation. We also demonstrate the effectiveness of our predictions by comparing the estimated detection level with those empirically determined from one year of data (i.e., the year 2020) of the Cuban seismic catalog. Our analysis shows, on the one hand, in which areas the current Cuban network should be improved, also depending on the regional pattern of faults, and, on the other hand, indicates the magnitude threshold that can be assumed homogeneously for the catalog of Cuban earthquakes in 2020. Because the adopted method can use current measurements of the seismic noise level (e.g., daily), the proposed analysis can also be configured for continuous monitoring of network state quality.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::63fc43716075b931eb1c5e4db59c9dabTest
https://doi.org/10.1785/0220220016Test

المؤلفون: Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Francis Warren, Renata S. Scalco, Kathryn R. Wagner, Francesco Muntoni, Nicolas Deconinck, Irina Balikova, Inge Joniau, Valentine Tahon, Sylvia Wittevrongel, Nathalie Goemans, Catherine Cassiman, Lies Prove, Lisa Vancampenhout, Marleen van den Hauwe, Annelies Van Impe, Claude Cances, Vincent Soler, Lauriane Maillard De La Morandais, Delphine Vovan, Pascal Cintas, Françoise Auriol, Marianne Mus, Gwennaelle Alphonsa, Valerie Bellio, Olaia Gil Mato, Florence Flamein, Cécile Evrard, Amina Ziouche, Ikram Bouacha-Allou, Philippe Debruyne, Gilles Derlyn, Sabine Defoort, Florian Leroy, Loïc Danjoux, Isabelle Desguerre, Dominique Bremond-Gignac, Maxence Rateuax, Elodie Deladrière, Carole Vuillerot, Quentin Veillerot, Bénédicte Sibille-Dabadi, Aurélie Barrière, Marie Tinat, Manel Saidi, Stephanie Fontaine, Camille De Montferrand, Laure Le-Goff, Aurélie Portefaix, Ulrike Walther Louvier, Pierre-André Duval, Pascale Caradec, Souad Touati, Alberto Zamora Herranz, Jan Bollig, ù Fanni Molnár, Sibylle Vogt, Astrid Pechmann, David Schorling, Sabine Wider, Heike Kölbel, Ulrike Schara, Frederik Braun, Andrea Gangfuss, Tim Hagenacker, Anja Eckstein, Dirk Dekowski, Michael Oeverhaus, Mareile Stoehr, Barbara Andres, Karin Smuda, Enrico Bertini, Adele D'Amico, Sergio Petroni, Paola Valente, Anna Maria Bonetti, Adelina Carlesi, Irene Mizzoni, Marina Pedemonte, Noemi Brolatti, Enrico Priolo, Giuseppe Rao, Lorenza Sposetti, Simone Morando, Giacomo Comi, Silvia Osnaghi, Valeria Minorini, Francesca Abbati, Federica Fassini, Michaela Foà, Maria Amalia Lopopolo, Francesca Magri, Alessandra Govoni, Megi Meneri, Valeria Parente, Laura Antonaci, Maria Carmela Pera, Marika Pane, Giulia Maria Amorelli, Costanza Barresi, Guglielmo D'Amico, Lorenzo Orazi, Giorgia Coratti, Roberto De Sanctis, Giuseppe Vita, Maria Sframeli, Gian Luca Vita, Pasquale Aragona, Leandro Inferrera, Elisa Imelde Postorino, Daniela Montanini, Vincenzo Di Bella, Concetta Donato, Elisabetta Calà, Ludo Van der Pol, Jos Aalbers, Joke de Boer, Saskia Imhof, Pascale Cooijmans, Thijs Ruyten, Danny Van Der Woude, Beata Klimaszewska, Dominika Romańczak, Zuzanna Gierlak-Wójcicka, Malwina Kępa, Adam Sikorski, Marcin Sobieraj, Anna Lusakowska, Biruta Kierdaszuk, Karolina Czeczko, Bettina Henzi, Konstantin Gugleta, Akos Kusnyerik, Patricia Siems, Sabina Akos, Nora Frei, Christine Seppi, Christine Wondrusch Haschke, Michela Guglieri, Volker Straub, Richard Bell, Mahmoud Nassar, Stuart Page, Michael Patrick Clarke, Aedheen Regan, Anna Mayhew, Robert Muni Lofra, Deepak Parasuraman, Simone Bruschi, Abdul-Jabbar Ghauri, Andrew Castle, Saima Naqvi, Nicola Patt, Mariacristina Scoto, Federica Trucco, Robert H Henderson, Roopen Kukadia, Will Moore, Evelin Milev, Catherine Rye, Victoria Selby, Amy Wolfe, Basil Darras, Anna Maria Baglieri, Anne Fulton, Courtney Lucken, Elizabeth Maczek, Amy Pasternak, Claudia A Chiriboga, Steven Kane, Ma Edylin M Bautista, Eileen Frommer, Noelle Pensec, Rachel Salazar, Cara Yochai, Rafael Rodrigues-Torres, Manroop Chawla, John Day, Shannon Beres, Richard Gee, Sally Dunaway Young, Richard Finkel, Aledie Navas Nazario, Airaj Fasiuddin, Julie A Wells, Jennifer Wilson, Debbie Berry, Virgina Rizzo, Julie Duke, Migvis Monduy, Jorge Collado.

المساهمون: Chiriboga, Claudia A., Bruno, Claudio, Duong, Tina, Fischer, Dirk, Mercuri, Eugenio, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Jaber, Birgit, Gorni, Ksenija, Kletzl, Heidemarie, Carruthers, Imogen, Martin, Carmen, Warren, Franci, Scalco, Renata S., Wagner, Kathryn R., Muntoni, Francesco, Deconinck, Nicola, Balikova, Irina, Joniau, Inge, Tahon, Valentine, Wittevrongel, Sylvia, Goemans, Nathalie, Cassiman, Catherine, Prove, Lie, Vancampenhout, Lisa, van den Hauwe, Marleen, Van Impe, Annelie, Cances, Claude, Soler, Vincent, Maillard De La Morandais, Lauriane, Vovan, Delphine, Cintas, Pascal, Auriol, Françoise, Mus, Marianne, Alphonsa, Gwennaelle, Bellio, Valerie, Gil Mato, Olaia, Flamein, Florence, Evrard, Cécile, Ziouche, Amina, Bouacha-Allou, Ikram, Debruyne, Philippe, Derlyn, Gille, Defoort, Sabine, Leroy, Florian, Danjoux, Loïc, Desguerre, Isabelle, Bremond-Gignac, Dominique, Rateuax, Maxence, Deladrière, Elodie, Vuillerot, Carole, Veillerot, Quentin, Sibille-Dabadi, Bénédicte, Barrière, Aurélie, Tinat, Marie, Saidi, Manel, Fontaine, Stephanie, De Montferrand, Camille, Le-Goff, Laure, Portefaix, Aurélie, Walther Louvier, Ulrike, Duval, Pierre-André, Caradec, Pascale, Touati, Souad, Zamora Herranz, Alberto, Bollig, Jan, Fanni Molnár, Ù, Vogt, Sibylle, Pechmann, Astrid, Schorling, David, Wider, Sabine, Kölbel, Heike, Schara, Ulrike, Braun, Frederik, Gangfuss, Andrea, Hagenacker, Tim, Eckstein, Anja, Dekowski, Dirk, Oeverhaus, Michael, Stoehr, Mareile, Andres, Barbara, Smuda, Karin, Bertini, Enrico, D'Amico, Adele, Petroni, Sergio, Valente, Paola, Maria Bonetti, Anna, Carlesi, Adelina, Mizzoni, Irene, Pedemonte, Marina, Brolatti, Noemi, Priolo, Enrico, Rao, Giuseppe, Sposetti, Lorenza, Morando, Simone, Comi, Giacomo, Osnaghi, Silvia, Minorini, Valeria

مصطلحات موضوعية: Evrysdi, Pharmacodynamic, Risdiplam, Safety, Spinal muscular atrophy

الوصف: Introduction: Risdiplam is a survival of motor neuron 2 (SMN2) splicing modifier for the treatment of patients with spinal muscular atrophy (SMA). The JEWELFISH study (NCT03032172) was designed to assess the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of risdiplam in previously treated pediatric and adult patients with types1–3 SMA. Here, an analysis was performed after all patients had received at least 1year of treatment with risdiplam. Methods: Patients with a confirmed diagnosis of 5q-autosomal recessive SMA between the ages of 6months and 60years were eligible for enrollment. Patients were previously enrolled in the MOONFISH study (NCT02240355) with splicing modifier RG7800 or treated with olesoxime, nusinersen, or onasemnogene abeparvovec. The primary objectives of the JEWELFISH study were to evaluate the safety and tolerability of risdiplam and investigate the PK after 2years of treatment. Results: A total of 174 patients enrolled: MOONFISH study (n = 13), olesoxime (n = 71 patients), nusinersen (n = 76), onasemnogene abeparvovec (n = 14). Most patients (78%) had three SMN2 copies. The median age and weight of patients at enrollment was 14.0years (1–60years) and 39.1kg (9.2–108.9kg), respectively. About 63% of patients aged 2–60years had a baseline total score of less than 10 on the Hammersmith Functional Motor Scale–Expanded and 83% had scoliosis. The most common adverse event (AE) was upper respiratory tract infection and pyrexia (30 patients each; 17%). Pneumonia (four patients; 2%) was the most frequently reported serious AE (SAE). The rates of AEs and SAEs per 100 patient-years were lower in the second 6-month period compared with the first. An increase in SMN protein was observed in blood after risdiplam treatment and was comparable across all ages and body weight quartiles. Conclusions: The safety and PD of risdiplam in patients who were previously treated were consistent with those of treatment-naïve patients.

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000929942600001; volume:12; firstpage:543; lastpage:557; numberofpages:15; journal:NEUROLOGY AND THERAPY; https://hdl.handle.net/11567/1156274Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85148078301

الإتاحة: https://doi.org/10.1007/s40120-023-00444-1Test
https://hdl.handle.net/11567/1156274Test

المؤلفون: Eugenio Mercuri, Nicolas Deconinck, Elena S Mazzone, Andres Nascimento, Maryam Oskoui, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Odile Boespflug-Tanguy, Nathalie Goemans, Janbernd Kirschner, Anna Kostera-Pruszczyk, Laurent Servais, Marianne Gerber, Ksenija Gorni, Omar Khwaja, Heidemarie Kletzl, Renata S Scalco, Hannah Staunton, Wai Yin Yeung, Carmen Martin, Paulo Fontoura, John W Day, Joseph J. Volpe, John Posner, Ulrich Kellner, Rosaline Quinlivan, Aurore Daron, Stéphanie Delstanche, Romain Bruninx, Fabian Dal Farra, Olivier Schneider, Irina Balikova, Patricia Delbeke, Inge Joniau, Valentine Tahon, Sylvia Wittevrongel, Elke De Vos, Ingele Casteels, Liesbeth De Waele, Catherine Cassiman, Lies Prové, David Kinoo, Lisa Vancampenhout, Marleen Van Den Hauwe, Annelies Van Impe, Alexandra Prufer de Queiroz Campos Araujo, Aline Chacon Pereira, Flávia Nardes, Lorena Haefeli, Julia Rossetto, Marcos Ferreira Rebel, Jaqueline Almeida Pereira, Craig Campbell, Sapna Sharan, Wendy McDonald, Cheryl Scholtes, Jean Mah, Maria Sframeli, Angela Chiu, Jane Hagel, Raquel Beneish, Gaela Cariou-Palmer, Connie Pham, Daniela Toffoli, Stephanie Arpin, Sarah Turgeon Desilets, Yi Wang, Chaoping Hu, Jianfeng Huan, Chen Qian, Li Shen, Ying Xiao, Zhenxuan Zhou, Hui Li, Sujuan Wang, Hui Xiong, Xingzhi Chang, Hui Dong, Ying Liu, Tian Sang, Cuijie Wei, Jing Wen, Yiwen Cao, Xingyao Ly, Jingjing Zhao, Wenzhu Li, Lun Qin, Nina Barisic, Martina Galiot Delic, Petra Kristina Ivkic, Nenad Vukojevic, Ivana Kern, Boris Najdanovic, Marin Skugor, Teresa Gidaro, Andreea Seferian, Silvana De Lucia, Emmanuel Barreau, Nabila Mnafek, Marta Milkova Momtchilova, Helene Peche, Carole Valherie, Allison Grange, Charlotte Lilien, Darko Milascevic, Shotaro Tachibana, Claudia Ravelli, Ruxandra Cardas, Jessica Taytard, Guillaume Aubertin, Laure Vanden Brande, Jean-Baptiste Davion, Stephanie Coopman, Ikram Bouacha, Philippe Debruyne, Sabine Defoort, Gilles Derlyn, Florian Leroy, Loïc Danjoux, Julie Guilbaud, Isabelle Desguerre, Christine Barnérias, Michaela Semeraro, Dominique Bremond-Gignac, Lenaic Bruere, Maxence Rateaux, Élodie Deladrière, Virginie Germa, Yann Pereon, Sandra Mercie, Fanny Billaud, Lucie Le Goff, Guy Letellier, Aurélie Portefaix, Camille De-Montferrand, Laure Le-Goff, Stephanie Fontaine, Manel Saidi, Nabil Bouzid, Aurélie Barriere, Marie Tinat, Michelle Dreesbach, Wolf Lagréze, Bettina Michaelis, Fanni Molnar, Dorina Seger, Sibylle Vogt, Enrico Bertini, Adele D'Amico, Sergio Petroni, Anna Maria Bonetti, Adelina Carlesi, Irene Mizzoni, Claudio Bruno, Enrico Priolo, Giuseppe Rao, Simone Morando, Paola Tacchetti, Ambra Zuffi, Giacomo Pietro Comi, Roberta Brusa, Stefania Corti, Velardo Daniele, Alessandra Govoni, Francesca Magri, Valeria Minorini, Silvia Gabriella Osnaghi, Francesca Abbati, Federica Fassini, Michaela Foa, Amaqlia Lopopolo, Megi Meneri, Francesca Zoppas, Valeria Parente, Riccardo Masson, Stefania Bianchi Marzoli, Diletta Santarsiero, Myriam Garcia Sierra, Gemma Tremolada, Maria Teresa Arnoldi, Marta Vigano, Riccardo Zanin, Laura Antonaci, Roberto de Sanctis, Marika Pane, Maria Carmela Pera, Giulia Maria Amorelli, Costanza Barresi, Gugliemo D'Amico, Lorenzo Orazi, Giorgia Coratti, Kazuhiro Haginoya, Atsuko Kato, Yuko Morishita, Ryutaro Kira, Kiyomu Akiyama, Miwako Goto, Yujiro Mori, Misato Okamoto, Saki Tsutsui, Yuta Takatsuji, Aya Tanaka, Hirofumi Komaki, Miina Omori, Ippei Suzuki, Mizuki Takeuchi, Daisuke Todoroki, Seji Watanabe, Tomoko Matsubayashi, Emi Inakazu, Hiroe Nagura, Akira Suzuki, Manami Usui, Nobutsune Ishikawa, Yousuke Harada, Kenishi Fudeyasu, Kazuhiko Hirata, Kana Michiue, Kazuyuki Ueda, Junko Fujitani, Reiko Arakawa, Kozue Takano, Shigeko Yashiro, Maiko Seki, Nozomi Sano, Koji Fukuyama, Yuki Matsumoto, Hirofumi Miyazaki, Minoru Shibata, Kyoko Kobayashi, Yukie Nakamura, Yasuhiro Takeshima, Moe Kuma, Anna Fraczek, Maria Jedrzejowska, Anna Lusakowska, Agnieszka Czeszyk-Piotrowicz, Wojciech Hautz, Klaudia Rakusiewicz, Malgorzata Burlewicz, Zuzanna Gierlak-Wojcicka, Malwina Kepa, Adam Sikorski, Marcin Sobieraj, Maria Mazurkiewicz-Beldzinska, Anna Lemska, Sandra Modrzejewska, Mateusz Koberda, Urszula Stodolska-Koberda, Agnieszka Waskowska, Jagoda Kolendo, Agnieszka Sobierajska-Rek, Barbara Steinborn, Magdalena Dalz, Julia Grabowska, Wojciech Hajduk, Justyna Janasiewicz-Karachitos, Monika Klimas, Marcin Stopa, Ewa Gajewska, Beata Pusz, Dmitry Vlodavets, Evgenia Melnik, Natalya Leppenen, Nataliya Yupatova, Anastasya Monakhova, Yulia Papina, Olga Shidlovsckaia, Vedrana Milic Rasic, Vesna Brankovic, Ana Kosac, Olivera Djokic, Vesna Jakšic, Ana Pepic, Jelena Martinovic, Francina Munell Casadesus, Eduardo Tizzano, Nieves Martín Begué, Charlotte Wolley Dod, Olaia Subira, Bernat Planas Pascual, Esther Toro Tamargo, Marcos Madruga Garrido, José David Medina Romero, Marta Peña Salinas, Andrés Nascimento Osorio, Ana Díaz Cortés, Enrique Jiménez Gañan, Simone Dowon Suh, Julita Medina Cantillo, Obdulia Moya, Nuria Padros, Sandra Roca Urraca, Hugo Gonzalez Valdivia, Samuel Pascual Pascual, Sofía de Manuel, Susana Noval Martin, Paul Burnham, Sandra Espinosa, Mercedes Martinez Moreno, Haluk Topaloglu, Ibrahim Oncel, Nesibe Eroglu Ertugru, Bahadir Konuskan, Bora Eldem, Sibel Kadayifçilar, Ipek Alemdaroglu, Aynur Ayse Karaduman, Oznur Tunca Yilmaz, Neslihan Bilgin, Seher Sari, Claudia Chiriboga, John J. Lee, Donnielle Rome-Martin, John W. Day, Shannon Beres, Tina Duong, Richard Gee, Sally Dunaway Young, Sabine Fuerst-Recktenwald, Anne Marquet, Nicoletta Muelhardt, Dylan Trundell

المصدر: LANCET NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: Adult, Risdiplam, spinal muscular atrophy, Adolescent, Spinal Muscular Atrophies of Childhood, Settore MED/26 - NEUROLOGIA, Young Adult, Pyrimidines, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Double-Blind Method, Child, Preschool, Humans, Neurology (clinical), Child, Preschool, Azo Compounds, Aged

الوصف: BACKGROUND: Risdiplam is an oral small molecule approved for the treatment of patients with spinal muscular atrophy, with approval for use in patients with type 2 and type 3 spinal muscular atrophy granted on the basis of unpublished data. The drug modifies pre-mRNA splicing of the SMN2 gene to increase production of functional SMN. We aimed to investigate the safety and efficacy of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy. METHODS: In this phase 3, randomised, double-blind, placebo-controlled study, patients aged 2-25 years with confirmed 5q autosomal recessive type 2 or type 3 spinal muscular atrophy were recruited from 42 hospitals in 14 countries across Europe, North America, South America, and Asia. Participants were eligible if they were non-ambulant, could sit independently, and had a score of at least 2 in entry item A of the Revised Upper Limb Module. Patients were stratified by age and randomly assigned (2:1) to receive either daily oral risdiplam, at a dose of 5·00 mg (for individuals weighing =20 kg) or 0·25 mg/kg (for individuals weighing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::917024073c62a8e3c3c8eedaa6f463bbTest
https://doi.org/10.1016/s1474-4422Test(21)00367-7

المؤلفون: Peter Klin, Giovanna Laurenzano, Stefano Parolai, Carla Barnaba, Enrico Priolo

المساهمون: Klin, P, Laurenzano, G, Barnaba, C, Priolo, E, Parolai, S

المصدر: Bulletin of the Seismological Society of America. 111:1885-1904

مصطلحات موضوعية: Pgv, Geophysics, 010504 meteorology & atmospheric sciences, Geochemistry and Petrology, Pga, Northeastern Italy, Site Amplification, 010502 geochemistry & geophysics, 01 natural sciences, Geology, 0105 earth and related environmental sciences

الوصف: The application of earthquake recordings to the estimation of an event’s magnitude and the construction of rapid-response ground-motion maps requires an adequate classification of the recording stations in terms of their site response. For permanent stations, this information can be obtained from a sufficiently large database of past recordings.In this work, we analyze more than 7300 three-component recordings collected between 1996 and 2017 by 67 permanent stations in northeastern Italy to assess their site amplification. The signals come from 368 earthquakes with a magnitude range of M 3.2–5.8 and a distance range of 10–300 km. We evaluate the frequency-dependent amplification function with respect to a reference station with a flat seismic noise horizontal-to-vertical spectral ratio. The evaluation relies on the decomposition of the S-wave amplitude spectra in terms of source, propagation, and site response. We solve the decomposition with a nonparametric, single-step generalized inversion in the frequency band 0.5–20 Hz. In addition, we compute the amplification factors for peak ground acceleration and velocity with respect to a well-established ground-motion prediction equation. The results highlight that only 11 stations show a relatively flat unitary response with respect to the reference site, whereas the frequency-averaged amplification function at 23 out of 67 stations exhibits a value larger than 2. We classified the sites according to their surface geology and geomorphological scenario and found that amplification affects not only stations installed on the alluvial soil but also several stations installed on what are assumed to be rock sites. Sites in caves and mines exhibit deamplification, whereas the stations with sensors in boreholes exhibit the typical interference pattern. A good correlation between the amplification factors and the frequency-averaged amplification functions suggests the possibility of predicting time-domain peak ground-motion values from amplification functions estimated by generalized inversion.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7236fbaaab0b055c7386f889f19dae65Test
https://doi.org/10.1785/0120200361Test

المؤلفون: Samuele Caruggi, Luca A. Ramenghi, Matteo Scaramuzzi, Paola Camicione, Enrico Priolo, Massimiliano Serafino, Maria Grazia Calevo, Lorenza Sposetti

المصدر: European Journal of Ophthalmology. 32:1169-1173

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, genetic structures, business.industry, Childhood blindness, Retinopathy of prematurity, General Medicine, medicine.disease, eye diseases, 03 medical and health sciences, Ophthalmology, 0302 clinical medicine, 030225 pediatrics, 030221 ophthalmology & optometry, medicine, sense organs, Postnatal growth, business

الوصف: Purpose: Retinopathy of prematurity (ROP) is the leading cause of childhood blindness. The aim of our study is to validate the new screening criteria elaborated by the Postnatal Growth and Retinopathy of Prematurity (G-ROP) study group in a monocentric cohort of Italian preterm infants. Methods: We retrospectively applied the G-ROP screening criteria to a cohort of preterm infants born between May 2015 and July 2020 with known birth weight, gestational age, serial weight measurement, and known ROP outcome. Primary outcomes were sensitivity and specificity of ROP detection, especially of treatment requiring ROP. Secondary outcomes were reduction of ophthalmologic examinations and of infants requiring screening. Results: We retrospectively evaluated 595 children and 475 were included in our study. Of them, 119 developed any type ROP, 39 developed type 1 ROP, and 28 underwent treatment. G-ROP criteria predicted 39 of 39 cases of type 1 ROP (100% sensitivity and specificity). Sensitivity and specificity for detection of treated ROP were 100%. Considering any type ROP detection, sensitivity was 87.4% and specificity was 100%. Our analysis showed that screening could be avoided in 50% of patients, resulting in a 29% reduction of the number of examinations. Conclusions: Our study validates the new G-ROP screening protocol in a monocentric cohort of premature infants. We demonstrate that all Type 1 ROP and requiring treatment ROP could be found even with a reduction of eye examinations.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cce4a6952136ff115be4804b008dc1c1Test
https://doi.org/10.1177/11206721211011362Test

المؤلفون: Antonio Scala, Guido Maria Adinolfi, Matteo Picozzi, Francesco Scotto di Uccio, Gaetano Festa, Grazia De Landro, Enrico Priolo, Stefano Parolai, Rosario Riccio, Marco Romanelli

مصطلحات موضوعية: geophysics

الوصف: Seismic monitoring in areas where induced earthquakes could occur is a challenging topic for seismologists due to generally very low signal to noise ratio. Therefore, the seismological com-munity is devoting several efforts to the development of high-quality networks around the areas where fluid injection and storage and geothermal activities take place, also following the national induced seismicity monitoring guidelines. The use of advanced data-mining strategy, such as template matching filters, auto-similarity search and deep-learning approaches is recently further fostering such a monitoring enhancing the seismic catalogues and lowering the magnitude of completeness of these areas. In this framework, we carried out an experiment where a small-aperture seismic array was installed around the gas reservoir of Collalto, in North Italy. The continuous velocimetric data, acquired for 25 days, were analysed through the application of the optimized auto-similarity search technique FAST. The array was conceived as a cost-effective network, aimed at integrating, right above the gas storage site, the permanent high-resolution Collalto Seismic Network. The analysis allowed to detect micro-events down to magnitude Ml=-0.4 within a distance of ~15km from the array. Our results confirmed that the system based on the array installation and the FAST data-analysis might contribute to lower the magnitude of completeness around the site of about 0.7.

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7179db0dc8fa13337cb007cdfa31be91Test