3,430 results on '"Salpietro, A."'
Search Results
52. Remedial Interventions to Address Receptivity to Feedback in Masters-Level Counseling Students
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Salpietro, Lena Marie
- Abstract
In order to maintain the integrity of the counseling profession and protect clients from potential harm, counselor educators must engage in appropriate gatekeeping practices. While remediation remains an essential component of counselor educators? gatekeeping responsibilities, counselor education lacks consensus on the best way to approach the remediation of counseling students. Investigating remediation is necessary as issues of Problems of Professional Competence (PPC) can adversely affect counselor educators, students, clients, and the counseling profession This research will expand knowledge regarding the remediation practices of counselor educators and which interventions are employed for a specific type of PPC in masters-level counseling students. This study employed a Q methodology framework to explore the subjective remediation practices of counselor educators who were currently employed as full-time faculty members in CACREP-accredited programs ( N =28) and aimed to answer the following: (a) Do counselor educators agree on remedial interventions likely and unlikely to be implemented with a PPC?; and (b) How will counselor educators rank order remedial interventions when presented with a PPC? Data were collected electronically through Qualtrics and analyzed using the PQMethod software. Participants were asked to complete an informed consent document and brief demographic questionnaire, followed by a Q-sort and one post-sorting questionnaire. The Q-sort contained a vignette that represented the PPC of receptivity to feedback. Q-sorts were examined utilizing Principal Components Analysis (PCA) and rotated using the varimax method of orthogonal factor rotation resulting in four unique factors. The factors included "Due Process," "Reflective Practice," "Remedial Coursework," and "Preserve Programmatic Status." Factors were interpreted holistically using the crib sheet method, which includes examining the factor arrays, distinguishing statements, demographic information, and post-sorting questionnaires. Implications for counselor education and ideas for future research directions are included. [The dissertation citations contained here are published with the permission of ProQuest LLC. Further reproduction is prohibited without permission. Copies of dissertations may be obtained by Telephone (800) 1-800-521-0600. Web page: http://www.proquest.com/en-US/products/dissertations/individuals.shtml.]
- Published
- 2020
53. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
- Author
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Ghosh, Shereen G, Becker, Kerstin, Huang, He, Dixon-Salazar, Tracy, Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K, Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M, Efthymiou, Stephanie, Hanna, Michael G, Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmüller, Janine, Weixler, Lisa, Nürnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B, Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M, Wolf, Nicole I, Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin, and Gleeson, Joseph G
- Subjects
Biochemistry and Cell Biology ,Genetics ,Biological Sciences ,Epilepsy ,Pediatric ,Brain Disorders ,Neurosciences ,Rare Diseases ,Neurodegenerative ,Aetiology ,2.1 Biological and endogenous factors ,Neurological ,ADP-ribosylation ,ADPRHL2 ,ARH3 ,SUDEP ,ataxia ,epilepsy ,neurodegeneration ,neuropathy ,oxidative stress ,poly-ADP ribose ,Medical and Health Sciences ,Genetics & Heredity ,Biological sciences ,Biomedical and clinical sciences ,Health sciences - Abstract
ADP-ribosylation, the addition of poly-ADP ribose (PAR) onto proteins, is a response signal to cellular challenges, such as excitotoxicity or oxidative stress. This process is catalyzed by a group of enzymes referred to as poly(ADP-ribose) polymerases (PARPs). Because the accumulation of proteins with this modification results in cell death, its negative regulation restores cellular homeostasis: a process mediated by poly-ADP ribose glycohydrolases (PARGs) and ADP-ribosylhydrolase proteins (ARHs). Using linkage analysis and exome or genome sequencing, we identified recessive inactivating mutations in ADPRHL2 in six families. Affected individuals exhibited a pediatric-onset neurodegenerative disorder with progressive brain atrophy, developmental regression, and seizures in association with periods of stress, such as infections. Loss of the Drosophila paralog Parg showed lethality in response to oxidative challenge that was rescued by human ADPRHL2, suggesting functional conservation. Pharmacological inhibition of PARP also rescued the phenotype, suggesting the possibility of postnatal treatment for this genetic condition.
- Published
- 2018
54. L1CAM variants cause two distinct imaging phenotypes on fetal MRI
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Andrea Accogli, Stacy Goergen, Giana Izzo, Kshitij Mankad, Karina Krajden Haratz, Cecilia Parazzini, Michael Fahey, Lara Menzies, Julia Baptista, Lucia Carpineta, Domenico Tortora, Ezio Fulcheri, Valerio Gaetano Vellone, Dario Paladini, Luigina Spaccini, Valentina Toto, Claire Trayers, Liat Ben Sira, Adi Reches, Gustavo Malinger, Vincenzo Salpietro, Patrizia De Marco, Myriam Srour, Federico Zara, Valeria Capra, Andrea Rossi, and Mariasavina Severino
- Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Abstract Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed in 9 fetuses was characterized by callosal anomalies, diencephalosynapsis, and a distinct brainstem malformation with diencephalic–mesencephalic junction dysplasia and brainstem kinking. Cerebellar vermis hypoplasia, aqueductal stenosis, obstructive hydrocephalus, and pontine hypoplasia were variably associated. The second pattern observed in one fetus was characterized by callosal dysgenesis, reduced white matter, and pontine hypoplasia. The identification of these features should alert clinicians to offer a prenatal L1CAM testing.
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- 2021
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55. Editorial: Genetically determined epilepsies: Perspectives in the era of precision medicine
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Mario Mastrangelo, Vincenzo Salpietro, and Joseph Sullivan
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genetic epilepsies ,next generation sequencing ,neurodevelopmental disorders ,copy number variants ,children ,Neurology. Diseases of the nervous system ,RC346-429 - Published
- 2022
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56. Clinical features and comorbidity pattern of HCV infected migrants compared to native patients in care in Italy: A real-life evaluation of the PITER cohort
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Mazzaro, Cesare, Bertola, Manuela, Schioppa, Ornella, Benedetti, Antonio, Schiadà, Laura, Cucco, Monica, Giacometti, Andrea, Brescini, Laura, Castelletti, Sefora, Fiorentini, Alessandro, Angarano, Gioacchino, Milella, Michele, Di Leo, Alfredo, Rendina, Maria, D'abramo, Fulvio Salvatore, Lillo, Chiara, Iannone, Andrea, Piazzolla, Mariano, Verucchi, Gabriella, Badia, Lorenzo, Piscaglia, Fabio, Benevento, Francesca, Serio, Ilaria, Castelli, Francesco, Zaltron, Serena, Spinetti, Angiola, Odolini, Silvia, Bruno, Raffaele, Mondelli, Mario, Chessa, Luchino, Loi, Martina, Torti, Carlo, Costa, Chiara, Mazzitelli, Maria, Pisani, Vincenzo, Scaglione, Vincenzo, Trecarichi, Enrico Maria, Zignego, Anna Linda, Monti, Monica, Madia, Francesco, Blanc, Pier Luigi, Attala, Letizia, Pierotti, Piera, Salomoni, Elena, Mariabelli, Elisa, Santantonio, Teresa Antonia, Bruno, Serena Rita, Cela, Ester Marina, Bassetti, Matteo, Mazzarello, Giovanni, Alessandrini, Anna Ida, Di Biagio, Antonio, Nicolini, Laura Ambra, Raimondo, Giovanni, Filomia, Roberto, Aghemo, Alessio, Meli, Rossella, Lazzarin, Adriano, Morsica, Giulia, Salpietro, Stefania, Galli, Massimo, Fracanzani, Anna Ludovica, Fatta, Erika, Lombardi, Rosa, Lampertico, Pietro, Borghi, Marta, D'ambrosio, Roberta, Degasperi, Elisabetta, Puoti, Massimo, Baiguera, Chiara, D'amico, Federico, Vinci, Maria, Rumi, Maria Grazia, Zuin, Massimo, Giorgini, Alessia, Zermiani, Paola, Andreone, Pietro, Caraceni, Paolo, Margotti, Marzia, Guarneri, Valeria, Villa, Erica, Bernabucci, Veronica, Bristot, Laura, Paradiso, Maria Luisa, Migliorino, Guglielmo, Beretta, Ilaria, Gambaro, Alessandra, Lapadula, Giuseppe, Spolti, Anna, Soria, Alessandro, Invernizzi, Pietro, Ciaccio, Antonio, LucÀ, Martina, Malinverno, Federica, Ratti, Laura, Coppola, Carmine, Amoruso, Daniela Caterina, Pisano, Federica, Scarano, Ferdinando, Staiano, Laura, Morisco, Filomena, Cossiga, Valentina, Gentile, Ivan, Buonomo, Antonio Riccardo, Foggia, Maria, Zappulo, Emanuela, Federico, Alessandro, Dallio, Marcello, Coppola, Nicola, Sagnelli, Caterina, Martini, Salvatore, Monari, Caterina, Nardone, Gerardo, Sgamato, Costantino, Chemello, Liliana, Cavalletto, Luisa, Sterrantino, Daniela, Russo, Francesco Paolo, Zanetto, Alberto, Zanaga, Paola, Barbaro, Francesco, Brancaccio, Giuseppina, Craxì, Antonio, Petta, Salvatore, Calvaruso, Vincenza, Crapanzano, Luciano, Madonia, Salvatore, Cannizzaro, Marco, Bruno, Erica Maria, Licata, Anna, Amodeo, Simona, Capitano, Adele Rosaria, Ferrari, Carlo, Laccabue, Diletta, Negri, Elisa, Orlandini, Alessandra, Pesci, Marco, Gulminetti, Roberto, Pagnucco, Layla, Parruti, Giustino, Di Stefano, Paola, Brunetto, Maurizia Rossana, Coco, Barbara, Massari, Marco, Corsini, Romina, Garlassi, Elisa, Andreoni, Massimo, Teti, Elisabetta, Cerva, Carlotta, Baiocchi, Lorenzo, Tata, Xhimi, Grassi, Giuseppe, Gasbarrini, Antonio, Pompili, Maurizio, De Siena, Martina, Taliani, Gloria, Biliotti, Elisa, Spaziante, Martina, Persico, Marcello, Masarone, Mario, Aglitti, Andrea, Calvanese, Gemma, Anselmo, Marco, De Leo, Pasqualina, Marturano, Monica, Saracco, Giorgio Maria, Ciancio, Alessia, Ieluzzi, Donatella, Quaranta, Maria Giovanna, Ferrigno, Luigina, D'Angelo, Franca, Saracino, Annalisa, and Kondili, Loeta A.
- Published
- 2021
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57. De novo variants in DENND5B cause a neurodevelopmental disorder
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Scala, Marcello, primary, Tomati, Valeria, additional, Ferla, Matteo, additional, Lena, Mariateresa, additional, Cohen, Julie S., additional, Fatemi, Ali, additional, Brokamp, Elly, additional, Bican, Anna, additional, Phillips, John A., additional, Koziura, Mary E., additional, Nicouleau, Michael, additional, Rio, Marlene, additional, Siquier, Karine, additional, Boddaert, Nathalie, additional, Musante, Ilaria, additional, Tamburro, Serena, additional, Baldassari, Simona, additional, Iacomino, Michele, additional, Scudieri, Paolo, additional, Rosenfeld, Jill A., additional, Bellus, Gary, additional, Reed, Sara, additional, Al Saif, Hind, additional, Russo, Rossana Sanchez, additional, Walsh, Matthew B., additional, Cantagrel, Vincent, additional, Crunk, Amy, additional, Gustincich, Stefano, additional, Ruggiero, Sarah M., additional, Fitzgerald, Mark P., additional, Helbig, Ingo, additional, Striano, Pasquale, additional, Severino, Mariasavina, additional, Salpietro, Vincenzo, additional, Pedemonte, Nicoletta, additional, Zara, Federico, additional, Acosta, Maria T., additional, Adams, David R., additional, Alvarez, Raquel L., additional, Alvey, Justin, additional, Allworth, Aimee, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Afzali, Ben, additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Behrens, Edward, additional, Bejerano, Gill, additional, Bellen, Hugo J., additional, Bennett, Jimmy, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Briere, Lauren C., additional, Brown, Gabrielle, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Byers, Peter, additional, Byrd, William E., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Cassini, Thomas, additional, Chang, Ta Chen Peter, additional, Chanprasert, Sirisak, additional, Chao, HsiaoTuan, additional, Chinn, Ivan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Coggins, Matthew, additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cope, Heidi, additional, Corona, Rosario, additional, Craigen, William J., additional, Crouse, Andrew B., additional, Cunningham, Michael, additional, D’Souza, Precilla, additional, Dai, Hongzheng, additional, Dasari, Surendra, additional, Davis, Joie, additional, Dayal, Jyoti G., additional, Delgado, Margaret, additional, Dell'Angelica, Esteban C., additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Dorrani, Naghmeh, additional, Doss, Argenia L., additional, Douine, Emilie D., additional, Earl, Dawn, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Falk, Marni, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Fu, Jiayu, additional, Gahl, William A., additional, Glass, Ian, additional, Goddard, Page C., additional, Godfrey, Rena A., additional, Grajewski, Alana, additional, Gropman, Andrea, additional, Halley, Meghan C., additional, Hamid, Rizwan, additional, Hanchard, Neal, additional, Hassey, Kelly, additional, Hayes, Nichole, additional, High, Frances, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Horike-Pyne, Martha, additional, Huang, Alden, additional, Huang, Yan, additional, Hutchison, Sarah, additional, Introne, Wendy, additional, Isasi, Rosario, additional, Izumi, Kosuke, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Jean-Marie, Orpa, additional, Jobanputra, Vaidehi, additional, Kaitryn, Emerald, additional, Ketkar, Shamika, additional, Kiley, Dana, additional, Kilich, Gonench, additional, Kobren, Shilpa N., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Korrick, Susan, additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Kravets, Elijah, additional, Lalani, Seema R., additional, Lam, Byron, additional, Lam, Christina, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Levitt, Roy, additional, Lewis, Richard A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Maghiro, AudreyStephannie, additional, Mahoney, Rachel, additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCray, Alexa T., additional, McGee, Elisabeth, additional, Might, Matthew, additional, Miller, Danny, additional, Mirzaa, Ghayda, additional, Morava, Eva, additional, Moretti, Paolo, additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Nakano-Okuno, Mariko, additional, Nelson, Stanley F., additional, Nieves-Rodriguez, Shirley, additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Petcharet, Leoyklang, additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Swerdzewski, Barbara N. Pusey, additional, Quinlan, Aaron, additional, Rao, Deepak A., additional, Raper, Anna, additional, Raskind, Wendy, additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenthal, Elizabeth, additional, Rossignol, Francis, additional, Ruzhnikov, Maura, additional, Sabaii, Marla, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Schoch, Kelly, additional, Scott, Daryl A., additional, Seto, Elaine, additional, Sharma, Prashant, additional, Shashi, Vandana, additional, Shelkowitz, Emily, additional, Sheppeard, Sam, additional, Shin, Jimann, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Edward C., additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Solomon, Ben, additional, Spillmann, Rebecca C., additional, Stergachis, Andrew, additional, Stoler, Joan M., additional, Sullivan, Kathleen, additional, Sullivan, Jennifer A., additional, Sutton, Shirley, additional, Sweetser, David A., additional, Sybert, Virginia, additional, Tabor, Holly K., additional, Tan, Queenie K.-G., additional, Tan, Amelia L.M., additional, Tarakad, Arjun, additional, Taylor, Herman, additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Ungar, Rachel A., additional, Urv, Tiina K., additional, Vanderver, Adeline, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walker, Melissa, additional, Walley, Nicole M., additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Wegner, Daniel, additional, Weisz Hubshman, Monika, additional, Wener, Mark, additional, Wenger, Tara, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Whitlock, Jordan, additional, Wolfe, Lynne A., additional, Worley, Kim, additional, Yamamoto, Shinya, additional, Zhang, Zhe, additional, and Zuchner, Stephan, additional
- Published
- 2024
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58. Human mutations in SLITRK3 implicated in GABAergic synapse development in mice
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Efthymiou, Stephanie, primary, Han, Wenyan, additional, Ilyas, Muhammad, additional, Li, Jun, additional, Yu, Yichao, additional, Scala, Marcello, additional, Malintan, Nancy T., additional, Vavouraki, Nikoleta, additional, Mankad, Kshitij, additional, Maroofian, Reza, additional, Rocca, Clarissa, additional, Salpietro, Vincenzo, additional, Lakhani, Shenela, additional, Mallack, Eric J., additional, Palculict, Timothy Blake, additional, Li, Hong, additional, Zhang, Guojun, additional, Zafar, Faisal, additional, Rana, Nuzhat, additional, Takashima, Noriko, additional, Matsunaga, Hayato, additional, Manzoni, Claudia, additional, Striano, Pasquale, additional, Lythgoe, Mark F., additional, Aruga, Jun, additional, Lu, Wei, additional, and Houlden, Henry, additional
- Published
- 2024
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59. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
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Pan, Xueyang, primary, Tao, Alice M., additional, Lu, Shenzhao, additional, Ma, Mengqi, additional, Hannan, Shabab B., additional, Slaugh, Rachel, additional, Drewes Williams, Sarah, additional, O'Grady, Lauren, additional, Kanca, Oguz, additional, Person, Richard, additional, Carter, Melissa T., additional, Platzer, Konrad, additional, Schnabel, Franziska, additional, Abou Jamra, Rami, additional, Roberts, Amy E., additional, Newburger, Jane W., additional, Revah-Politi, Anya, additional, Granadillo, Jorge L., additional, Stegmann, Alexander P.A., additional, Sinnema, Margje, additional, Accogli, Andrea, additional, Salpietro, Vincenzo, additional, Capra, Valeria, additional, Ghaloul-Gonzalez, Lina, additional, Brueckner, Martina, additional, Simon, Marleen E.H., additional, Sweetser, David A., additional, Glinton, Kevin E., additional, Kirk, Susan E., additional, Wangler, Michael F., additional, Yamamoto, Shinya, additional, Chung, Wendy K., additional, Bellen, Hugo J., additional, Burrage, Lindsay C., additional, Heaney, Jason D., additional, Kim, Seon-Young, additional, Lanza, Denise G., additional, Liu, Zhandong, additional, Mao, Dongxue, additional, Milosavljevic, Aleksander, additional, Nagamani, Sandesh C.S., additional, Posey, Jennifer E., additional, Ramamurthy, Uma, additional, Ramanathan, Vivek, additional, Rogers, Jeffrey, additional, Rosenfeld, Jill A., additional, Roth, Matthew, additional, and Zahedi Darshoori, Ramin, additional
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- 2024
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60. Corrigendum: Neuroimaging in PRUNE1 syndrome: a mini-review of the literature
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Scorrano, Giovanna, primary, Battaglia, Laura, additional, Spiaggia, Rossana, additional, Basile, Antonio, additional, Palmucci, Stefano, additional, Foti, Pietro Valerio, additional, David, Emanuele, additional, Marinangeli, Franco, additional, Mascilini, Ilaria, additional, Corsello, Antonio, additional, Comisi, Francesco, additional, Vittori, Alessandro, additional, and Salpietro, Vincenzo, additional
- Published
- 2024
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61. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
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Dworschak, Gabriel C., Punetha, Jaya, Kalanithy, Jeshurun C., Mingardo, Enrico, Erdem, Haktan B., Akdemir, Zeynep C., Karaca, Ender, Mitani, Tadahiro, Marafi, Dana, Fatih, Jawid M., Jhangiani, Shalini N., Hunter, Jill V., Dakal, Tikam Chand, Dhabhai, Bhanupriya, Dabbagh, Omar, Alsaif, Hessa S., Alkuraya, Fowzan S., Maroofian, Reza, Houlden, Henry, Efthymiou, Stephanie, Dominik, Natalia, Salpietro, Vincenzo, Sultan, Tipu, Haider, Shahzad, Bibi, Farah, Thiele, Holger, Hoefele, Julia, Riedhammer, Korbinian M., Wagner, Matias, Guella, Ilaria, Demos, Michelle, Keren, Boris, Buratti, Julien, Charles, Perrine, Nava, Caroline, Héron, Delphine, Heide, Solveig, Valkanas, Elise, Waddell, Leigh B., Jones, Kristi J., Oates, Emily C., Cooper, Sandra T., MacArthur, Daniel, Syrbe, Steffen, Ziegler, Andreas, Platzer, Konrad, Okur, Volkan, Chung, Wendy K., O’Shea, Sarah A., Alcalay, Roy, Fahn, Stanley, Mark, Paul R., Guerrini, Renzo, Vetro, Annalisa, Hudson, Beth, Schnur, Rhonda E., Hoganson, George E., Burton, Jennifer E., McEntagart, Meriel, Lindenberg, Tobias, Yilmaz, Öznur, Odermatt, Benjamin, Pehlivan, Davut, Posey, Jennifer E., Lupski, James R., and Reutter, Heiko
- Published
- 2021
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62. A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes
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Rosaria Nardello, Vincenzo Antona, Giuseppe Donato Mangano, Vincenzo Salpietro, Salvatore Mangano, and Antonina Fontana
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Autism spectrum disorder ,Protocadherin ,Neuroligin ,Developmental global delay ,Mixed gonadal dysgenesis ,Internal medicine ,RC31-1245 ,Genetics ,QH426-470 - Abstract
Abstract Background Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders. Case presentation We report a child with sexual developmental disorder associated with a peculiar phenotype characterized by severe language impairment and autistic behaviour associated with a mosaicism [45,X(11)/46,XY(89)] and a partial deletion of the short and long arm of Y chromosome (del Yp11.31q11.23) that also involves the loss of both PCDH11Y and NLGN4Y genes. To our knowledge no study has ever reported the occurrence of the lack of both PCDH11Y and NLGN4Y located in the Y chromosome in the same patient. Conclusions We hypothesized a functional complementary role of PCDH11Y and NLGN4Y within formation/maturation of the cerebral cortex. The impairment of early language development may be mainly related to the lack of PCDH11Y that underlies the early language network development and the later appearance of the autistic behaviour may be mainly related to deficit of inhibitory glicinergic neurotransmission NLGN4Y-linked.
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- 2021
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63. Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann−Steiner syndrome
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Nardello, Rosaria, Mangano, Giuseppe Donato, Fontana, Antonina, Gagliardo, Cesare, Midiri, Federico, Borgia, Paola, Brighina, Filippo, Raieli, Vincenzo, Mangano, Salvatore, and Salpietro, Vincenzo
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- 2021
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64. Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders
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Bourinaris, Thomas, Athanasiou, Alkyoni, Efthymiou, Stephanie, Wiethoff, Sarah, Salpietro, Vincenzo, and Houlden, Henry
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- 2021
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65. Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review
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Giuseppe Donato Mangano, Antonina Fontana, Vincenzo Antona, Vincenzo Salpietro, Giuseppa Renata Mangano, Mario Giuffrè, and Rosaria Nardello
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autism spectrum disorders ,EEG ,epilepsy ,intellectual disability ,SCN2A ,SCN8A ,Genetics ,QH426-470 - Abstract
Abstract This study was aimed to analyze the commonalities and distinctions of voltage‐gated sodium channels, Nav1.2, Nav1.6, in neurodevelopmental disorders. An observational study was performed including two patients with neurodevelopmental disorders. The demographic, electroclinical, genetic, and neuropsychological characteristics were analyzed and compared with each other and then with the subjects carrying the same genetic variants reported in the literature. The clinical features of one of them argued for autism spectrum disorder and developmental delay, the other for intellectual disability, diagnoses confirmed by the neuropsychological assessment. The first patient was a carrier of SCN2A (p.R379H) variant while the second was carrier of SCN8A (p.E936K) variant, both involving the pore loop of the two channels. The results of this study suggest that the neurodevelopmental disorders without overt epilepsy of both patients can be the consequences of loss of function of Nav1.2/Nav1.6 channels. Notably, the SCN2A variant, with an earlier expression timing in brain development, resulted in a more severe phenotype as autism spectrum disorder and developmental delay, while the SCN8A variant, with a later expression timing, resulted in a less severe phenotype as intellectual disability.
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- 2022
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66. A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome
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Antonella Riva, Giulia Nobile, Thea Giacomini, Marzia Ognibene, Marcello Scala, Ganna Balagura, Francesca Madia, Andrea Accogli, Ferruccio Romano, Domenico Tortora, Mariasavina Severino, Paolo Scudieri, Simona Baldassari, Ilaria Musante, Paolo Uva, Vincenzo Salpietro, Annalaura Torella, Vincenzo Nigro, Valeria Capra, Lino Nobili, Pasquale Striano, Maria Margherita Mancardi, Federico Zara, and Michele Iacomino
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epilepsy ,Exome sequencing (ES) ,WOREE syndrome ,array-CGH analysis ,WWOX gene ,Pediatrics ,RJ1-570 - Abstract
BackgroundWOREE syndrome is a rare neurodevelopmental disorder featuring drug-resistant epilepsy and global developmental delay. The disease, caused by biallelic pathogenic variants in the WWOX gene, usually leads to severe disability or death within the first years of life. Clinicians have become more confident with the phenotypic picture of WOREE syndrome, allowing earlier clinical diagnosis. We report a boy with a peculiar clinic-radiological pattern supporting the diagnosis of WOREE syndrome.MethodsDNA was extracted from blood samples of the proband and his parents and subjected to Exome Sequencing (ES). Agarose gel electrophoresis, real-time quantitative PCR (Q-PCR), and array-CGH 180K were also performed.ResultsES detected a pathogenic stop variant (c.790C > T, p.Arg264*) in one allele of WWOX in the proband and his unaffected mother. A 180K array-CGH analysis revealed a 84,828-bp (g.chr16:78,360,803–78,445,630) deletion encompassing exon 6. The Q-PCR product showed that the proband and his father harbored the same deleted fragment, fusing exons 5 and 7 of WWOX.ConclusionsGenetic testing remains crucial in establishing the definitive diagnosis of WOREE syndrome and allows prenatal interventions/parental counseling. However, our findings suggest that targeted Next Generation Sequencing-based testing may occasionally show technical pitfalls, prompting further genetic investigation in selected cases with high clinical suspicion.
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- 2022
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67. Genetic Background and Molecular Mechanisms of Juvenile Idiopathic Arthritis
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Saverio La Bella, Marta Rinaldi, Armando Di Ludovico, Giulia Di Donato, Giulio Di Donato, Vincenzo Salpietro, Francesco Chiarelli, and Luciana Breda
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juvenile idiopathic arthritis ,JIA ,molecular mechanisms ,paediatric rheumatology ,Biology (General) ,QH301-705.5 ,Chemistry ,QD1-999 - Abstract
Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease in the paediatric population. JIA comprises a heterogeneous group of disorders with different onset patterns and clinical presentations with the only element in common being chronic joint inflammation. This review sought to evaluate the most relevant and up-to-date evidence on current knowledge regarding the pathogenesis of JIA subtypes to provide a better understanding of these disorders. Despite significant improvements over the past decade, the aetiology and molecular mechanisms of JIA remain unclear. It has been suggested that the immunopathogenesis is characterised by complex interactions between genetic background and environmental factors that may differ between JIA subtypes. Human leukocyte antigen (HLA) haplotypes and non-HLA genes play a crucial role in the abnormal activation of both innate and adaptive immune cells that cooperate in causing the inflammatory process. This results in the involvement of proinflammatory cytokines, including tumour necrosis factor (TNF)α, interleukin (IL)-1, IL-6, IL-10, IL-17, IL-21, IL-23, and others. These mediators, interacting with the surrounding tissue, cause cartilage stress and bone damage, including irreversible erosions. The purpose of this review is to provide a comprehensive overview of the genetic background and molecular mechanisms of JIA.
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- 2023
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68. Antihistamines in children and adolescents: A practical update
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Parisi, G.F., Leonardi, S., Ciprandi, G., Corsico, A., Licari, A., Miraglia del Giudice, M., Peroni, D., Salpietro, C., and Marseglia, G.L.
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- 2020
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69. Clinical and Molecular Spectrum of Autosomal Recessive CA8‐Related Cerebellar Ataxia.
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Kaiyrzhanov, Rauan, Ortigoza‐Escobar, Juan Darío, Stringer, Brett W., Ganieva, Manizha, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Macaya, Alfons, Laner, Andreas, Onbool, Enas, Al‐Shammari, Randa, Al‐Owain, Mohammed, Deconinck, Nicolas, Vilain, Catheline, Dontaine, Pauline, Self, Eleanor, Akram, Rabia, Hussain, Ghulam, Baig, Shahid Mahmood, Iqbal, Javed, and Salpietro, Vincenzo
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Background: Based on a limited number of reported families, biallelic CA8 variants have currently been associated with a recessive neurological disorder named, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CAMRQ‐3). Objectives: We aim to comprehensively investigate CA8‐related disorders (CA8‐RD) by reviewing existing literature and exploring neurological, neuroradiological, and molecular observations in a cohort of newly identified patients. Methods: We analyzed the phenotype of 27 affected individuals from 14 families with biallelic CA8 variants (including data from 15 newly identified patients from eight families), ages 4 to 35 years. Clinical, genetic, and radiological assessments were performed, and zebrafish models with ca8 knockout were used for functional analysis. Results: Patients exhibited varying degrees of neurodevelopmental disorders (NDD), along with predominantly progressive cerebellar ataxia and pyramidal signs and variable bradykinesia, dystonia, and sensory impairment. Quadrupedal gait was present in only 10 of 27 patients. Progressive selective cerebellar atrophy, predominantly affecting the superior vermis, was a key diagnostic finding in all patients. Seven novel homozygous CA8 variants were identified. Zebrafish models demonstrated impaired early neurodevelopment and motor behavior on ca8 knockout. Conclusion: Our comprehensive analysis of phenotypic features indicates that CA8‐RD exhibits a wide range of clinical manifestations, setting it apart from other subtypes within the category of CAMRQ. CA8‐RD is characterized by cerebellar atrophy and should be recognized as part of the autosomal‐recessive cerebellar ataxias associated with NDD. Notably, the presence of progressive superior vermis atrophy serves as a valuable diagnostic indicator. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]
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- 2024
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70. Eczematous Plaques after Bathing
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Manti, Sara, Cuppari, Caterina, Salpietro, Carmelo Damiano, and Rezaei, Nima, editor
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- 2019
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71. Introduction to Allergy
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Wall, Luke A., Rahmani, Maryam, Rahmani, Farzaneh, Topalusic, Iva, Esmaeilzadeh, Hossein, Manti, Sara, Sharafian, Samin, Salpietro, Carmelo Damiano, Cuppari, Caterina, Gipson, Kevin S., Rezaei, Nima, and Rezaei, Nima, editor
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- 2019
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72. Trends in chronic hepatitis B virus infection in Italy over a 10-year period: Clues from the nationwide PITER and MASTER cohorts toward elimination
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Brancaccio, G, Coco, B, Nardi, A, Quaranta, M, Tosti, M, Ferrigno, L, Cacciola, I, Messina, V, Chessa, L, Morisco, F, Milella, M, Barbaro, F, Ciancio, A, Russo, F, Coppola, N, Blanc, P, Claar, E, Verucchi, G, Puoti, M, Zignego, A, Chemello, L, Madonia, S, Fagiuoli, S, Marzano, A, Ferrari, C, Lampertico, P, Di Marco, V, Craxì, A, Santantonio, T, Raimondo, G, Brunetto, M, Gaeta, G, Kondili, L, Pasulo, L, Coppola, C, Pisano, F, Romano, M, Porcu, C, Bottalico, I, Cossiga, V, Tata, X, Sagnelli, C, Pierotti, P, Degasperi, E, Rosato, V, Badia, L, Ieluzzi, D, Monti, M, Bavetta, M, Cavalletto, L, Toniutto, P, Fornasiere, E, Colecchia, A, Ferrarese, A, Nardone, G, Rocco, A, Viganò, M, Foschi, F, Conti, F, Morsica, G, Salpietro, S, Torti, C, Costa, C, Federico, A, Dallio, M, Giorgini, A, Anselmo, M, De Leo, P, Zaltron, S, Cambianica, A, Piscaglia, F, Serio, I, Schivazappa, S, Mastroianni, A, Chidichimo, L, Massari, M, Mazzaro, C, Marrone, A, D'Amore, F, D'Offizi, G, Licata, A, Niro, G, Pollicino, T, Aghemo, A, Brancaccio G., Coco B., Nardi A., Quaranta M. G., Tosti M. E., Ferrigno L., Cacciola I., Messina V., Chessa L., Morisco F., Milella M., Barbaro F., Ciancio A., Russo F. P., Coppola N., Blanc P., Claar E., Verucchi G., Puoti M., Zignego A. L., Chemello L., Madonia S., Fagiuoli S., Marzano A., Ferrari C., Lampertico P., Di Marco V., Craxì A., Santantonio T. A., Raimondo G., Brunetto M. R., Gaeta G. B., Kondili L. A., Pasulo L., Coppola C., Pisano F., Romano M., Porcu C., Bottalico I. F., Cossiga V., Tata X., Sagnelli C., Pierotti P., Degasperi E., Rosato V., Badia L., Ieluzzi D., Monti M., Bavetta M. G., Cavalletto L., Toniutto P., Fornasiere E., Colecchia A., Ferrarese A., Nardone G., Rocco A., Viganò M., Foschi F. G., Conti F., Morsica G., Salpietro S., Torti C., Costa C., Federico A., Dallio M., Giorgini A., Anselmo M., De Leo P., Zaltron S., Cambianica A., Piscaglia F., Serio I., Schivazappa S., Mastroianni A., Chidichimo L., Massari M., Mazzaro C., Marrone A., D'Amore F. M., D'Offizi G., Licata A., Niro G. A., Pollicino T., Aghemo A., Brancaccio, G, Coco, B, Nardi, A, Quaranta, M, Tosti, M, Ferrigno, L, Cacciola, I, Messina, V, Chessa, L, Morisco, F, Milella, M, Barbaro, F, Ciancio, A, Russo, F, Coppola, N, Blanc, P, Claar, E, Verucchi, G, Puoti, M, Zignego, A, Chemello, L, Madonia, S, Fagiuoli, S, Marzano, A, Ferrari, C, Lampertico, P, Di Marco, V, Craxì, A, Santantonio, T, Raimondo, G, Brunetto, M, Gaeta, G, Kondili, L, Pasulo, L, Coppola, C, Pisano, F, Romano, M, Porcu, C, Bottalico, I, Cossiga, V, Tata, X, Sagnelli, C, Pierotti, P, Degasperi, E, Rosato, V, Badia, L, Ieluzzi, D, Monti, M, Bavetta, M, Cavalletto, L, Toniutto, P, Fornasiere, E, Colecchia, A, Ferrarese, A, Nardone, G, Rocco, A, Viganò, M, Foschi, F, Conti, F, Morsica, G, Salpietro, S, Torti, C, Costa, C, Federico, A, Dallio, M, Giorgini, A, Anselmo, M, De Leo, P, Zaltron, S, Cambianica, A, Piscaglia, F, Serio, I, Schivazappa, S, Mastroianni, A, Chidichimo, L, Massari, M, Mazzaro, C, Marrone, A, D'Amore, F, D'Offizi, G, Licata, A, Niro, G, Pollicino, T, Aghemo, A, Brancaccio G., Coco B., Nardi A., Quaranta M. G., Tosti M. E., Ferrigno L., Cacciola I., Messina V., Chessa L., Morisco F., Milella M., Barbaro F., Ciancio A., Russo F. P., Coppola N., Blanc P., Claar E., Verucchi G., Puoti M., Zignego A. L., Chemello L., Madonia S., Fagiuoli S., Marzano A., Ferrari C., Lampertico P., Di Marco V., Craxì A., Santantonio T. A., Raimondo G., Brunetto M. R., Gaeta G. B., Kondili L. A., Pasulo L., Coppola C., Pisano F., Romano M., Porcu C., Bottalico I. F., Cossiga V., Tata X., Sagnelli C., Pierotti P., Degasperi E., Rosato V., Badia L., Ieluzzi D., Monti M., Bavetta M. G., Cavalletto L., Toniutto P., Fornasiere E., Colecchia A., Ferrarese A., Nardone G., Rocco A., Viganò M., Foschi F. G., Conti F., Morsica G., Salpietro S., Torti C., Costa C., Federico A., Dallio M., Giorgini A., Anselmo M., De Leo P., Zaltron S., Cambianica A., Piscaglia F., Serio I., Schivazappa S., Mastroianni A., Chidichimo L., Massari M., Mazzaro C., Marrone A., D'Amore F. M., D'Offizi G., Licata A., Niro G. A., Pollicino T., and Aghemo A.
- Abstract
Objectives: The study measures trends in the profile of patients with chronic hepatitis B virus linked to care in Italy. Methods: A cross-sectional, multicenter, observational cohort (PITER cohort) of consecutive patients with hepatitis B surface antigen (HBsAg) over the period 2019-2021 from 46 centers was evaluated. The reference was the MASTER cohort collected over the years 2012-2015. Standard statistical methods were used. Results: The PITER cohort enrolled 4583 patients, of whom 21.8% were non-Italian natives. Compared with those in MASTER, the patients were older and more often female. The prevalence of hepatitis B e antigen (HBeAg) declined (7.2% vs 12.3; P <0.0001) and that of anti-hepatitis D virus (HDV) remained stable (9.3% vs 8.3%). In both cohorts, about 25% of the patients had cirrhosis, and those in the PITER cohort were older. HBeAg-positive was 5.0% vs 12.6% (P <0.0001) and anti-HDV positive 24.8% vs 17.5% (P <0.0017). In the logistic model, the variables associated with cirrhosis were anti-HDV-positive (odds ratio = 10.08; confidence interval 7.63-13.43), age, sex, and body mass index; the likelihood of cirrhosis was reduced by 40% in the PITER cohort. Among non-Italians, 12.3% were HBeAg-positive (vs 23.4% in the MASTER cohort; P <0.0001), and 12.3% were anti-HDV-positive (vs 11.1%). Overall, the adherence to the European Association for the Study of the Liver recommendations for antiviral treatment increased over time. Conclusion: Chronic hepatitis B virus infection appears to be in the process of becoming under control in Italy; however, HDV infection is still a health concern in patients with cirrhosis and in migrants.
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- 2023
73. Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction
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Giulia Spoto, Giulia Valentini, Maria Concetta Saia, Ambra Butera, Greta Amore, Vincenzo Salpietro, Antonio Gennaro Nicotera, and Gabriella Di Rosa
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synaptopathy ,developmental and epileptic encephalopathy (DEE) ,pre-synaptic mechanisms ,drug resistant epilepsy ,intellectual disability (ID) ,SNAREopathies ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
The proper connection between the pre- and post-synaptic nervous cells depends on any element constituting the synapse: the pre- and post-synaptic membranes, the synaptic cleft, and the surrounding glial cells and extracellular matrix. An alteration of the mechanisms regulating the physiological synergy among these synaptic components is defined as “synaptopathy.” Mutations in the genes encoding for proteins involved in neuronal transmission are associated with several neuropsychiatric disorders, but only some of them are associated with Developmental and Epileptic Encephalopathies (DEEs). These conditions include a heterogeneous group of epilepsy syndromes associated with cognitive disturbances/intellectual disability, autistic features, and movement disorders. This review aims to elucidate the pathogenesis of these conditions, focusing on mechanisms affecting the neuronal pre-synaptic terminal and its role in the onset of DEEs, including potential therapeutic approaches.
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- 2022
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74. KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review
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Greta Amore, Ambra Butera, Giulia Spoto, Giulia Valentini, Maria Concetta Saia, Vincenzo Salpietro, Francesco Calì, Gabriella Di Rosa, and Antonio Gennaro Nicotera
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KCNQ2 ,neonatal epilepsy ,vitamin B6 ,pyridoxine ,pyridoxal 5 phosphate ,pyridoxine-dependent epilepsy (PDE) ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Potassium Voltage-Gated Channel Subfamily Q Member 2 (KCNQ2) gene has been initially associated with “Benign familial neonatal epilepsy” (BFNE). Amounting evidence arising by next-generation sequencing techniques have led to the definition of new phenotypes, such as neonatal epileptic encephalopathy (NEE), expanding the spectrum of KCNQ2-related epilepsies. Pyridoxine (PN) dependent epilepsies (PDE) are a heterogeneous group of autosomal recessive disorders associated with neonatal-onset seizures responsive to treatment with vitamin B6 (VitB6). Few cases of neonatal seizures due to KCNQ2 pathogenic variants have been reported as successfully responding to VitB6. We reported two cases of KCNQ2-related neonatal epilepsies involving a 5-year-old male with a paternally inherited heterozygous mutation (c.1639C>T; p.Arg547Trp), and a 10-year-old female with a de novo heterozygous mutation (c.740C>T; p.Ser247Leu). Both children benefited from VitB6 treatment. Although the mechanisms explaining the efficacy of VitB6 in such patients remain unclear, this treatment option in neonatal-onset seizures is easily taken into account in Neonatal Intensive Care Units (NICUs). Further studies should be conducted to better define clinical guidelines and treatment protocols.
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- 2022
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75. Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery
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Elisa Cali, Clarissa Rocca, Vincenzo Salpietro, and Henry Houlden
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SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) ,epilepsy ,seizures ,mutations ,vesicle fusion ,epileptic encephalopathies ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
SNAREs (soluble N-ethylmaleimide sensitive factor attachment protein receptor) are an heterogeneous family of proteins that, together with their key regulators, are implicated in synaptic vesicle exocytosis and synaptic transmission. SNAREs represent the core component of this protein complex. Although the specific mechanisms of the SNARE machinery is still not completely uncovered, studies in recent years have provided a clearer understanding of the interactions regulating the essential fusion machinery for neurotransmitter release. Mutations in genes encoding SNARE proteins or SNARE complex associated proteins have been associated with a variable spectrum of neurological conditions that have been recently defined as “SNAREopathies.” These include neurodevelopmental disorder, autism spectrum disorder (ASD), movement disorders, seizures and epileptiform abnormalities. The SNARE phenotypic spectrum associated with seizures ranges from simple febrile seizures and infantile spasms, to severe early-onset epileptic encephalopathies. Our study aims to review and delineate the epileptic phenotypes associated with dysregulation of synaptic vesicle exocytosis and transmission, focusing on the main proteins of the SNARE core complex (STX1B, VAMP2, SNAP25), tethering complex (STXBP1), and related downstream regulators.
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- 2022
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76. Diagnostic Approach to Macrocephaly in Children
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Andrea Accogli, Ana Filipa Geraldo, Gianluca Piccolo, Antonella Riva, Marcello Scala, Ganna Balagura, Vincenzo Salpietro, Francesca Madia, Mohamad Maghnie, Federico Zara, Pasquale Striano, Domenico Tortora, Mariasavina Severino, and Valeria Capra
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macrocephaly ,brain MRI ,megalencephaly ,head circumference ,genetic diagnosis ,Pediatrics ,RJ1-570 - Abstract
Macrocephaly affects up to 5% of the pediatric population and is defined as an abnormally large head with an occipitofrontal circumference (OFC) >2 standard deviations (SD) above the mean for a given age and sex. Taking into account that about 2–3% of the healthy population has an OFC between 2 and 3 SD, macrocephaly is considered as “clinically relevant” when OFC is above 3 SD. This implies the urgent need for a diagnostic workflow to use in the clinical setting to dissect the several causes of increased OFC, from the benign form of familial macrocephaly and the Benign enlargement of subarachnoid spaces (BESS) to many pathological conditions, including genetic disorders. Moreover, macrocephaly should be differentiated by megalencephaly (MEG), which refers exclusively to brain overgrowth, exceeding twice the SD (3SD—“clinically relevant” megalencephaly). While macrocephaly can be isolated and benign or may be the first indication of an underlying congenital, genetic, or acquired disorder, megalencephaly is most likely due to a genetic cause. Apart from the head size evaluation, a detailed family and personal history, neuroimaging, and a careful clinical evaluation are crucial to reach the correct diagnosis. In this review, we seek to underline the clinical aspects of macrocephaly and megalencephaly, emphasizing the main differential diagnosis with a major focus on common genetic disorders. We thus provide a clinico-radiological algorithm to guide pediatricians in the assessment of children with macrocephaly.
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- 2022
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77. Risk of HIV viral rebound in HIV infected patients on direct acting antivirals (DAAs) treatment for HCV.
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Giulia Morsica, Laura Galli, Emanuela Messina, Antonella Castagna, Sabrina Bagaglio, Stefania Salpietro, Della Torre Liviana, Caterina Uberti-Foppa, and Hamid Hasson
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Medicine ,Science - Abstract
BackgroundThe dynamic of HIV-viral load (VL) remains poorly investigated in HIV/HCV patients under direct acting antivirals (DAAs).MethodsWe retrospectively evaluated HIV-VL at baseline (BL) during and up to 24 weeks post-DAAs in a cohort of 305 HIV-1/HCV patients, on ART and with no HIV virological failure (VF) in the 6 months before treatment with DAAs; during the period of observation VF was defined as confirmed VL≥50 copies/mL; virological blips (VB, transient, not confirmed, VL ≥50 copies/mL). Stepwise Cox regression models were fitted to estimate adjusted hazard ratios (aHR) of VF.ResultsFifteen VF occurred in 13 patients over 187 person-years of follow-up (PYFU): incidence rate (IR) of 8.0 per 100-PYFU (95% CI = 4.0-12.1); 29 VBs were detected in 26 patients over 184 PYFU: IR = 15.8 per 100-PYFU (95% CI = 10.0-21.5). The most prominent factor associated with VF was the presence of BL HIV residual viremia (RV = HIV-RNA detectable but not precisely quantifiable) [aHR = 12.26 (95% CI = 3.74-40.17), PConclusionsOur findings underline the importance for close monitoring HIV-VL in selected patients. Whether this phenomenon is triggered by the rapid clearance of HCV remains to be established.
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- 2022
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78. Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients
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Balagura, Ganna, Riva, Antonella, Marchese, Francesca, Iacomino, Michele, Madia, Francesca, Giacomini, Thea, Mancardi, Maria Margherita, Amadori, Elisabetta, Vari, Maria Stella, Salpietro, Vincenzo, Russo, Angelo, Messana, Tullio, Vignoli, Aglaia, Chiesa, Valentina, Giordano, Lucio, Accorsi, Patrizia, Caffi, Lorella, Orsini, Alessandro, Bonuccelli, Alice, Santucci, Margherita, Vecchi, Marilena, Vanadia, Francesca, Milito, Giuseppe, Fusco, Carlo, Cricchiutti, Giovanni, Carpentieri, Marilisa, Margari, Lucia, Spalice, Alberto, Beccaria, Francesca, Benfenati, Fabio, Zara, Federico, and Striano, Pasquale
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- 2020
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79. Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations
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Accogli, Andrea, Severino, Mariasavina, Riva, Antonella, Madia, Francesca, Balagura, Ganna, Iacomino, Michele, Carlini, Barbara, Baldassari, Simona, Giacomini, Thea, Croci, Carolina, Pisciotta, Livia, Messana, Tullio, Boni, Antonella, Russo, Angelo, Bilo, Leonilda, Tonziello, Rosa, Coppola, Antonietta, Filla, Alessandro, Mecarelli, Oriano, Casalone, Rosario, Pisani, Francesco, Falsaperla, Raffaele, Marino, Silvia, Parisi, Pasquale, Ferretti, Alessandro, Elia, Maurizio, Luchetti, Anna, Milani, Donatella, Vanadia, Francesca, Silvestri, Laura, Rebessi, Erika, Parente, Eliana, Vatti, Giampaolo, Mancardi, Maria Margherita, Nobili, Lino, Capra, Valeria, Salpietro, Vincenzo, Striano, Pasquale, and Zara, Federico
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- 2020
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80. Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia
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Bibi, Farah, Efthymiou, Stephanie, Bourinaris, Thomas, Tariq, Ambreen, Zafar, Faisal, Rana, Nouzhat, Salpietro, Vincenzo, Houlden, Henry, Raja, Ghazala Kaukab, Saeed, Sadia, and Minhas, Nasir Mahmood
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- 2020
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81. Epilepsy Course and Developmental Trajectories in STXBP1-DEE
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Balagura, Ganna, Xian, Julie, Riva, Antonella, Marchese, Francesca, Ben Zeev, Bruria, Rios, Loreto, Sirsi, Deepa, Accorsi, Patrizia, Amadori, Elisabetta, Astrea, Guja, Baldassari, Simona, Beccaria, Francesca, Boni, Antonella, Budetta, Mauro, Cantalupo, Gaetano, Capovilla, Giuseppe, Cesaroni, Elisabetta, Chiesa, Valentina, Coppola, Antonietta, Dilena, Robertino, Faggioli, Raffaella, Ferrari, Annarita, Fiorini, Elena, Madia, Francesca, Gennaro, Elena, Giacomini, Thea, Giordano, Lucio, Iacomino, Michele, Lattanzi, Simona, Marini, Carla, Mancardi, Maria Margherita, Mastrangelo, Massimo, Messana, Tullio, Minetti, Carlo, Nobili, Lino, Papa, Amanda, Parmeggiani, Antonia, Pisano, Tiziana, Russo, Angelo, Salpietro, Vincenzo, Savasta, Salvatore, Scala, Marcello, Accogli, Andrea, Scelsa, Barbara, Scudieri, Paolo, Spalice, Alberto, Specchio, Nicola, Trivisano, Marina, Tzadok, Michal, Valeriani, Massimiliano, Vari, Maria Stella, Verrotti, Alberto, Vigevano, Federico, Vignoli, Aglaia, Toonen, Ruud, Zara, Federico, Helbig, Ingo, and Striano, Pasquale
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- 2022
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82. Neuroimaging in PRUNE1 syndrome: a mini-review of the literature
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Scorrano, Giovanna, primary, Laura, Battaglia, additional, Spiaggia, Rossana, additional, Basile, Antonio, additional, Palmucci, Stefano, additional, Foti, Pietro Valerio, additional, David, Emanuele, additional, Marinangeli, Franco, additional, Mascilini, Ilaria, additional, Comisi, Francesco, additional, Vittori, Alessandro, additional, and Salpietro, Vincenzo, additional
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- 2023
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83. Neuroimaging features of WOREE syndrome: a mini-review of the literature
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Battaglia, Laura, primary, Scorrano, Giovanna, additional, Spiaggia, Rossana, additional, Basile, Antonio, additional, Palmucci, Stefano, additional, Foti, Pietro Valerio, additional, Spatola, Corrado, additional, Iacomino, Michele, additional, Marinangeli, Franco, additional, Francia, Elisa, additional, Comisi, Francesco, additional, Corsello, Antonio, additional, Salpietro, Vincenzo, additional, Vittori, Alessandro, additional, and David, Emanuele, additional
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- 2023
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84. 495. De novo emergence of resistance mutations during treatment of SARSCoV-2 infection in immunocompromised patients
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Johnson, Katherine, primary, Soave, Rosemary, additional, Wang, Wei, additional, Albert, Joshua, additional, Kodiyanplakkal, Rosy Priya, additional, Salpietro, Maria, additional, Jing-Mei, Hsu, additional, Diel, Diego G, additional, Ghedin, Elodie, additional, and Salvatore, Mirella, additional
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- 2023
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85. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
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Kaiyrzhanov, Rauan, primary, Rad, Aboulfazl, additional, Lin, Sheng-Jia, additional, Bertoli-Avella, Aida, additional, Kallemeijn, Wouter W, additional, Godwin, Annie, additional, Zaki, Maha S, additional, Huang, Kevin, additional, Lau, Tracy, additional, Petree, Cassidy, additional, Efthymiou, Stephanie, additional, Ghayoor Karimiani, Ehsan, additional, Hempel, Maja, additional, Normand, Elizabeth A, additional, Rudnik-Schöneborn, Sabine, additional, Schatz, Ulrich A, additional, Baggelaar, Marc P, additional, Ilyas, Muhammad, additional, Sultan, Tipu, additional, Alvi, Javeria Raza, additional, Ganieva, Manizha, additional, Fowler, Ben, additional, Aanicai, Ruxandra, additional, Akay Tayfun, Gulsen, additional, Al Saman, Abdulaziz, additional, Alswaid, Abdulrahman, additional, Amiri, Nafise, additional, Asilova, Nilufar, additional, Shotelersuk, Vorasuk, additional, Yeetong, Patra, additional, Azam, Matloob, additional, Babaei, Meisam, additional, Bahrami Monajemi, Gholamreza, additional, Mohammadi, Pouria, additional, Samie, Saeed, additional, Banu, Selina Husna, additional, Basto, Jorge Pinto, additional, Kortüm, Fanny, additional, Bauer, Mislen, additional, Bauer, Peter, additional, Beetz, Christian, additional, Garshasbi, Masoud, additional, Hameed Issa, Awatif, additional, Eyaid, Wafaa, additional, Ahmed, Hind, additional, Hashemi, Narges, additional, Hassanpour, Kazem, additional, Herman, Isabella, additional, Ibrohimov, Sherozjon, additional, Abdul-Majeed, Ban A, additional, Imdad, Maria, additional, Isrofilov, Maksudjon, additional, Kaiyal, Qassem, additional, Khan, Suliman, additional, Kirmse, Brian, additional, Koster, Janet, additional, Lourenço, Charles Marques, additional, Mitani, Tadahiro, additional, Moldovan, Oana, additional, Murphy, David, additional, Najafi, Maryam, additional, Pehlivan, Davut, additional, Rocha, Maria Eugenia, additional, Salpietro, Vincenzo, additional, Schmidts, Miriam, additional, Shalata, Adel, additional, Mahroum, Mohammad, additional, Talbeya, Jawabreh Kassem, additional, Taylor, Robert W, additional, Vazquez, Dayana, additional, Vetro, Annalisa, additional, Waterham, Hans R, additional, Zaman, Mashaya, additional, Schrader, Tina A, additional, Chung, Wendy K, additional, Guerrini, Renzo, additional, Lupski, James R, additional, Gleeson, Joseph, additional, Suri, Mohnish, additional, Jamshidi, Yalda, additional, Bhatia, Kailash P, additional, Vona, Barbara, additional, Schrader, Michael, additional, Severino, Mariasavina, additional, Guille, Matthew, additional, Tate, Edward W, additional, Varshney, Gaurav K, additional, Houlden, Henry, additional, and Maroofian, Reza, additional
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- 2023
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86. Investigating Slut Shaming of Men in LGBTQIA + Communities: A Qualitative Exploratory Study
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Terrell, Kassie R., primary, Quinn, Nathan, additional, Velasquez Nash, Brandi, additional, and Salpietro, Lena, additional
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- 2023
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87. A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers
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Geroldi, Alessandro, primary, Tozza, Stefano, additional, Fiorillo, Chiara, additional, Nolano, Maria, additional, Fossa, Paola, additional, Vitale, Floriana, additional, Domi, Regi, additional, Gaudio, Andrea, additional, Mammi, Alessia, additional, Patrone, Serena, additional, Barbera, Andrea La, additional, Origone, Paola, additional, Ponti, Clarissa, additional, Sanguineri, Francesca, additional, Zara, Federico, additional, Cataldi, Matteo, additional, Salpietro, Vincenzo, additional, Venturi, Consuelo Barbara, additional, Massucco, Sara, additional, Schenone, Angelo, additional, Manganelli, Fiore, additional, Mandich, Paola, additional, Bellone, Emilia, additional, and Gotta, Fabio, additional
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- 2023
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88. Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features
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Scala, Marcello, Chua, Geok Lin, Chin, Cheen Fei, Alsaif, Hessa S., Borovikov, Artem, Riazuddin, Saima, Riazuddin, Sheikh, Chiara Manzini, M., Severino, Mariasavina, Kuk, Alvin, Fan, Hao, Jamshidi, Yalda, Toosi, Mehran Beiraghi, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Dadali, Elena, Baydakova, Galina, Konovalov, Fedor, Lozier, Ekaterina, O’Connor, Emer, Sabr, Yasser, Alfaifi, Abdullah, Ashrafzadeh, Farah, Striano, Pasquale, Zara, Federico, Alkuraya, Fowzan S., Houlden, Henry, Maroofian, Reza, and Silver, David L.
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- 2020
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89. Bacteriotherapy with Streptococcus salivarius 24SMB and Streptococcus oralis 89a nasal spray for treatment of upper respiratory tract infections in children: a pilot study on short-term efficacy
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Sara Manti, Giuseppe Fabio Parisi, Maria Papale, Amelia Licari, Carmelo Salpietro, Michele Miraglia del Giudice, Gian Luigi Marseglia, and Salvatore Leonardi
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Bacteriotherapy ,Children ,RRIs ,Treatment ,URTI ,Pediatrics ,RJ1-570 - Abstract
Abstract Background Recurrent respiratory infections (RRIs) are defined by the presence of at least one of the following criteria: (i) > 6 annual respiratory infections (RIs); (ii) > 1 monthly RIs involving the upper airways from September to April; (iii) > 3 annual RIs involving the lower airways represent a very common health problem in the first years of life. We conducted a multi-centre, prospective, single-open study to assess the efficacy and the safety of Streptococcus salivarius 24SMBc and Streptococcus oralis 89a in the prevention of upper respiratory tract infections (URTIs) in children. Methods Ninety-one children (M:F = 47:44, mean age 7.4 ± 2.3 years) with RRIs were enrolled in the study between September and November 2018. At baseline, children received Streptococcus salivarius 24SMBc and Streptococcus oralis 89a as 2 puffs for nostril twice/day for 7 days/months. The treatment lasted for 3 consecutive months. Efficacy was expressed in terms of absence or presence of fever, cough, bronchospasm, rhinorrhea and otalgia, at 1 month (T1), and 3 (T3) months. Safety and tolerability of the probiotic were evaluated on the basis of the number and type of adverse events (AEs) recorded during the treatment. Results Children treated with Streptococcus salivarius 24SMBc and Streptococcus oralis 89a showed a significant decrease of symptoms including episodes of fever, cough, bronchospasm, rhinorrhea, and otalgia (p 0.05). Conducting a subgroup analysis according to the age, it has been reported that children aged 1–3 years old showed an improvement in all symptoms, however, they become statistically significant only at the end of the 3 months of treatment (p
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- 2020
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90. Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
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Muhammad Ilyas, Stephanie Efthymiou, Vincenzo Salpietro, Nuzhat Noureen, Faisal Zafar, Sobiah Rauf, Asif Mir, and Henry Houlden
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Intellectual disability ,VPS53 gene ,GLB1 gene ,MLC1 gene ,Whole exome sequencing ,Internal medicine ,RC31-1245 ,Genetics ,QH426-470 - Abstract
Abstract Background Intellectual disability (ID) is both a clinically diverse and genetically heterogeneous group of disorder, with an onset of cognitive impairment before the age of 18 years. ID is characterized by significant limitations in intellectual functioning and adaptive behaviour. The identification of genetic variants causing ID and neurodevelopmental disorders using whole-exome sequencing (WES) has proven to be successful. So far more than 1222 primary and 1127 candidate genes are associated with ID. Methods To determine pathogenic variants causative of ID in three unrelated consanguineous Pakistani families, we used a combination of WES, homozygosity-by-descent mapping, de-deoxy sequencing and bioinformatics analysis. Results Rare pathogenic single nucleotide variants identified by WES which passed our filtering strategy were confirmed by traditional Sanger sequencing and segregation analysis. Novel and deleterious variants in VPS53, GLB1, and MLC1, genes previously associated with variable neurodevelopmental anomalies, were found to segregate with the disease in the three families. Conclusions This study expands our knowledge on the molecular basis of ID as well as the clinical heterogeneity associated to different rare genetic causes of neurodevelopmental disorders. This genetic study could also provide additional knowledge to help genetic assessment as well as clinical and social management of ID in Pakistani families.
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- 2020
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91. Cetirizine use in childhood: an update of a friendly 30-year drug
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Giuseppe Fabio Parisi, Salvatore Leonardi, Giorgio Ciprandi, Angelo Corsico, Amelia Licari, Michele Miraglia del Giudice, Diego Peroni, Carmelo Salpietro, and Gian Luigi Marseglia
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Cetirizine ,Antihistamines ,Histamine ,H1 receptors ,Children ,Adolescents ,Immunologic diseases. Allergy ,RC581-607 - Abstract
Abstract Cetirizine is a second-generation antihistamine, derived from the metabolism of hydroxyzine, highly specific for the H1 receptors, and with marked antiallergic properties. Although its history began more than 30 years ago, it remains one of the most used drugs in children with a leading role in the medical care of children with allergic diseases. Cetirizine use is licensed for paediatric patients for the treatment of allergic rhinitis, and chronic spontaneous urticaria, in Europe in children older than 2 years old and in the USA in children older than 6 months old. This review provides a practical update on the use of cetirizine in children and adolescents.
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- 2020
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92. A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes
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Nardello, Rosaria, Antona, Vincenzo, Mangano, Giuseppe Donato, Salpietro, Vincenzo, Mangano, Salvatore, and Fontana, Antonina
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- 2021
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93. Focus on the cetirizine use in clinical practice: a reappraisal 30 years later
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Angelo G. Corsico, Salvatore Leonardi, Amelia Licari, Gianluigi Marseglia, Michele Miraglia del Giudice, Diego G. Peroni, Carmelo Salpietro, and Giorgio Ciprandi
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Antihistamines ,Cetirizine ,Clinical practice ,Histamine ,H1 receptors ,Diseases of the respiratory system ,RC705-779 - Abstract
Abstract Antihistamines are currently one of the most commonly administered categories of drugs. They are used to treat symptoms that are secondary to histamine release, which is typical of certain allergic conditions, including rhinitis, conjunctivitis, asthma, urticaria, and anaphylaxis. Cetirizine belongs to the second-generation family, so, it is very selective for peripheral H1 receptors, is potent and quickly relieves symptoms, exerts additional anti-allergic/anti-inflammatory effects, and is usually well-tolerated. It has been marketed 30 years ago. In these years, a remarkable body of evidence has been built. The current review provides a practical update on the use of cetirizine in clinical practice.
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- 2019
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94. New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment
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Antonella Riva, Alice Golda, Ganna Balagura, Elisabetta Amadori, Maria Stella Vari, Gianluca Piccolo, Michele Iacomino, Simona Lattanzi, Vincenzo Salpietro, Carlo Minetti, and Pasquale Striano
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anti-seizure medications ,epilepsy ,genetics ,inflammation ,precision medicine ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Background: Despite the wide availability of novel anti-seizure medications (ASMs), 30% of patients with epilepsy retain persistent seizures with a significant burden in comorbidity and an increased risk of premature death. This review aims to discuss the therapeutic strategies, both pharmacological and non-, which are currently in the pipeline.Methods: PubMed, Scopus, and EMBASE databases were screened for experimental and clinical studies, meta-analysis, and structured reviews published between January 2018 and September 2021. The terms “epilepsy,” “treatment” or “therapy,” and “novel” were used to filter the results.Conclusions: The common feature linking all the novel therapeutic approaches is the spasmodic rush toward precision medicine, aiming at holistically evaluating patients, and treating them accordingly as a whole. Toward this goal, different forms of intervention may be embraced, starting from the choice of the most suitable drug according to the type of epilepsy of an individual or expected adverse effects, to the outstanding field of gene therapy. Moreover, innovative insights come from in-vitro and in-vivo studies on the role of inflammation and stem cells in the brain. Further studies on both efficacy and safety are needed, with the challenge to mature evidence into reliable assets, ameliorating the symptoms of patients, and answering the challenges of this disease.
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- 2021
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95. A systematic review of food protein–induced enterocolitis syndrome from the last 40 years
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Manti, Sara, Leonardi, Salvatore, Salpietro, Annamaria, Del Campo, Giuliana, Salpietro, Carmelo, and Cuppari, Caterina
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- 2017
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96. HIV-1 recombinant forms in immigrants regularly residing in Milan, northern Italy
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Bagaglio, Sabrina, Uberti-Foppa, Caterina, Sagnelli, Caterina, Lai, Alessia, Hasson, Hamid, Salpietro, Stefania, Messina, Emanuela, Morsica, Giulia, Zaffina, Chiara, Sica, Antonello, Lazzarin, Adriano, Angeletti, Silvia, Sagnelli, Evangelista, Foley, Brian, and Ciccozzi, Massimo
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- 2020
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97. Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach
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Ilyas, Muhammad, Salpietro, Vincenzo, Efthymiou, Stephanie, Bourinaris, Thomas, Tariq, Ayesha, Imdad, Maria, Ahmad, Akmal, Ahmad, Habib, and Houlden, Henry
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- 2020
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98. Matacaballos
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Ana Carolina Quiñonez Salpietro and Ana Carolina Quiñonez Salpietro
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- 2020
99. Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report
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Gianluca Piccolo, Giuseppe d'Annunzio, Elisabetta Amadori, Antonella Riva, Paola Borgia, Domenico Tortora, Mohamad Maghnie, Carlo Minetti, Eloisa Gitto, Michele Iacomino, Simona Baldassari, Chiara Fiorillo, Federico Zara, Pasquale Striano, and Vincenzo Salpietro
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arthrogryposis ,ZC4H2 ,neurodevelopmental disorders ,Wieacker-Wolff syndrome ,exome sequencing ,recurrent hypoglycemic events ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Wieacker-Wolff syndrome (WWS) is an X-linked Arthrogryposis Multiplex Congenita (AMC) disorder associated with broad neurodevelopmental impairment. The genetic basis of WWS lies in hemizygous pathogenic variants in ZC4H2, encoding a C4H2 type zinc-finger nuclear factor abundantly expressed in the developing human brain. The main clinical features described in WWS families carrying ZC4H2 pathogenic variants encompass having a short stature, microcephaly, birth respiratory distress, arthrogryposis, hypotonia, distal muscle weakness, and broad neurodevelopmental delay. We hereby report a Sicilian family with a boy clinically diagnosed with WWS and genetically investigated with exome sequencing (ES), leading to the identification of a c.593G>A (p. R198Q) hemizygous pathogenic variant in the ZC4H2 gene. During the first year of life, the onset of central hypoadrenalism led to recurrent hypoglycemic events, which likely contributed to seizure susceptibility. Also, muscle biopsy studies confirmed a pathology of the muscle tissue and revealed peculiar abnormalities of the neuromuscular junction. In conclusion, we expand the phenotypic spectrum of the WWS-related neurodevelopmental disorders and discuss the role of ZC4H2 in the context of the potential neuroendocrinological and neuromuscular features associated with this condition.
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- 2021
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100. Mode of delivery and atopic phenotypes: Old questions new insights? A retrospective study
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Cuppari, Caterina, Manti, Sara, Salpietro, Annamaria, Alterio, Tommaso, Arrigo, Teresa, Leonardi, Salvatore, and Salpietro, Carmelo
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- 2016
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