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1. Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile

Author

Poli, M. Cecilia, Rebolledo-Jaramillo, Boris, Lagos, Catalina, Orellana, Joan, Moreno, Gabriela, Martín, Luz M., Encina, Gonzalo, Böhme, Daniela, Faundes, Víctor, Zavala, M. Jesús, Hasbún, Trinidad, Fischer, Sara, Brito, Florencia, Araya, Diego, Lira, Manuel, de la Cruz, Javiera, Astudillo, Camila, Lay-Son, Guillermo, Cares, Carolina, Aracena, Mariana, Martin, Esteban San, Coban-Akdemir, Zeynep, Posey, Jennifer E., Lupski, James R., and Repetto, Gabriela M.

Published
2024
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3. Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.

Author

Yu, David, Miller, Corey, Feng, Yi, Guichard, Audrey, Béziat, Vivien, Bustamante, Jacinta, Pan-Hammarström, Qiang, Zhang, Yu, Rosen, Lindsey, Holland, Steve, Bosticardo, Marita, Kenney, Heather, Castagnoli, Riccardo, Slade, Charlotte, Boztuğ, Kaan, Mahlaoui, Nizar, Latour, Sylvain, Abraham, Roshini, Lougaris, Vassilios, Hauck, Fabian, Sediva, Anna, Atschekzei, Faranaz, Sogkas, Georgios, Poli, M, Slatter, Mary, Palterer, Boaz, Keller, Michael, Pinzon-Charry, Alberto, Sullivan, Anna, Droney, Luke, Suan, Daniel, Wong, Melanie, Kane, Alisa, Hu, Hannah, Ma, Cindy, Grombiříková, Hana, Ciznar, Peter, Dalal, Ilan, Aladjidi, Nathalie, Hie, Miguel, Lazaro, Estibaliz, Franco, Jose, Keles, Sevgi, Malphettes, Marion, Pasquet, Marlene, Maccari, Maria, Meinhardt, Andrea, Ikinciogullari, Aydan, Shahrooei, Mohammad, Celmeli, Fatih, Frosk, Patrick, Goodnow, Christopher, Gray, Paul, Belot, Alexandre, Kuehn, Hye, Rosenzweig, Sergio, Miyara, Makoto, Licciardi, Francesco, Servettaz, Amélie, Barlogis, Vincent, Le Guenno, Guillaume, Herrmann, Vera-Maria, Kuijpers, Taco, Ducoux, Grégoire, Sarrot-Reynauld, Françoise, Schuetz, Catharina, Cunningham-Rundles, Charlotte, Rieux-Laucat, Frédéric, Tangye, Stuart, Sobacchi, Cristina, Doffinger, Rainer, Warnatz, Klaus, Grimbacher, Bodo, Fieschi, Claire, Berteloot, Laureline, Bryant, Vanessa, Trouillet Assant, Sophie, Su, Helen, Neven, Benedicte, Abel, Laurent, Zhang, Qian, Boisson, Bertrand, Cobat, Aurélie, Jouanguy, Emmanuelle, Kampe, Olle, Bastard, Paul, Roifman, Chaim, Landegren, Nils, Notarangelo, Luigi, Le Voyer, Tom, Parent, Audrey, Liu, Xian, Cederholm, Axel, Gervais, Adrian, Rosain, Jérémie, Nguyen, Tina, Perez Lorenzo, Malena, Rackaityte, Elze, Rinchai, Darawan, and Zhang, Peng

Subjects
Humans, Autoantibodies, COVID-19, Gain of Function Mutation, Genetic Predisposition to Disease, Heterozygote, I-kappa B Proteins, Interferon Type I, Loss of Function Mutation, NF-kappa B, NF-kappa B p52 Subunit, Pneumonia, Viral, Thymus Gland, Thyroid Epithelial Cells
Abstract

Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I interferons (IFNs)1,2, conferring a predisposition to life-threatening COVID-19 pneumonia3. Here we report that patients with autosomal recessive NIK or RELB deficiency, or a specific type of autosomal-dominant NF-κB2 deficiency, also have neutralizing autoantibodies against type I IFNs and are at higher risk of getting life-threatening COVID-19 pneumonia. In patients with autosomal-dominant NF-κB2 deficiency, these autoantibodies are found only in individuals who are heterozygous for variants associated with both transcription (p52 activity) loss of function (LOF) due to impaired p100 processing to generate p52, and regulatory (IκBδ activity) gain of function (GOF) due to the accumulation of unprocessed p100, therefore increasing the inhibitory activity of IκBδ (hereafter, p52LOF/IκBδGOF). By contrast, neutralizing autoantibodies against type I IFNs are not found in individuals who are heterozygous for NFKB2 variants causing haploinsufficiency of p100 and p52 (hereafter, p52LOF/IκBδLOF) or gain-of-function of p52 (hereafter, p52GOF/IκBδLOF). In contrast to patients with APS-1, patients with disorders of NIK, RELB or NF-κB2 have very few tissue-specific autoantibodies. However, their thymuses have an abnormal structure, with few AIRE-expressing medullary thymic epithelial cells. Human inborn errors of the alternative NF-κB pathway impair the development of AIRE-expressing medullary thymic epithelial cells, thereby underlying the production of autoantibodies against type I IFNs and predisposition to viral diseases.

Published
2023

5. Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

Author

Le Voyer, Tom, Parent, Audrey V., Liu, Xian, Cederholm, Axel, Gervais, Adrian, Rosain, Jérémie, Nguyen, Tina, Perez Lorenzo, Malena, Rackaityte, Elze, Rinchai, Darawan, Zhang, Peng, Bizien, Lucy, Hancioglu, Gonca, Ghillani-Dalbin, Pascale, Charuel, Jean-Luc, Philippot, Quentin, Gueye, Mame Sokhna, Maglorius Renkilaraj, Majistor Raj Luxman, Ogishi, Masato, Soudée, Camille, Migaud, Mélanie, Rozenberg, Flore, Momenilandi, Mana, Riller, Quentin, Imberti, Luisa, Delmonte, Ottavia M., Müller, Gabriele, Keller, Baerbel, Orrego, Julio, Franco Gallego, William Alexander, Rubin, Tamar, Emiroglu, Melike, Parvaneh, Nima, Eriksson, Daniel, Aranda-Guillen, Maribel, Berrios, David I., Vong, Linda, Katelaris, Constance H., Mustillo, Peter, Raedler, Johannes, Bohlen, Jonathan, Bengi Celik, Jale, Astudillo, Camila, Winter, Sarah, McLean, Catriona, Guffroy, Aurélien, DeRisi, Joseph L., Yu, David, Miller, Corey, Feng, Yi, Guichard, Audrey, Béziat, Vivien, Bustamante, Jacinta, Pan-Hammarström, Qiang, Zhang, Yu, Rosen, Lindsey B., Holland, Steve M., Bosticardo, Marita, Kenney, Heather, Castagnoli, Riccardo, Slade, Charlotte A., Boztuğ, Kaan, Mahlaoui, Nizar, Latour, Sylvain, Abraham, Roshini S., Lougaris, Vassilios, Hauck, Fabian, Sediva, Anna, Atschekzei, Faranaz, Sogkas, Georgios, Poli, M. Cecilia, Slatter, Mary A., Palterer, Boaz, Keller, Michael D., Pinzon-Charry, Alberto, Sullivan, Anna, Droney, Luke, Suan, Daniel, Wong, Melanie, Kane, Alisa, Hu, Hannah, Ma, Cindy, Grombiříková, Hana, Ciznar, Peter, Dalal, Ilan, Aladjidi, Nathalie, Hie, Miguel, Lazaro, Estibaliz, Franco, Jose, Keles, Sevgi, Malphettes, Marion, Pasquet, Marlene, Maccari, Maria Elena, Meinhardt, Andrea, Ikinciogullari, Aydan, Shahrooei, Mohammad, Celmeli, Fatih, Frosk, Patrick, Goodnow, Christopher C., Gray, Paul E., Belot, Alexandre, Kuehn, Hye Sun, Rosenzweig, Sergio D., Miyara, Makoto, Licciardi, Francesco, Servettaz, Amélie, Barlogis, Vincent, Le Guenno, Guillaume, Herrmann, Vera-Maria, Kuijpers, Taco, Ducoux, Grégoire, Sarrot-Reynauld, Françoise, Schuetz, Catharina, Cunningham-Rundles, Charlotte, Rieux-Laucat, Frédéric, Tangye, Stuart G., Sobacchi, Cristina, Doffinger, Rainer, Warnatz, Klaus, Grimbacher, Bodo, Fieschi, Claire, Berteloot, Laureline, Bryant, Vanessa L., Trouillet Assant, Sophie, Su, Helen, Neven, Benedicte, Abel, Laurent, Zhang, Qian, Boisson, Bertrand, Cobat, Aurélie, Jouanguy, Emmanuelle, Kampe, Olle, Bastard, Paul, Roifman, Chaim M., Landegren, Nils, Notarangelo, Luigi D., Anderson, Mark S., Casanova, Jean-Laurent, and Puel, Anne

Published
2023
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6. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

Author

Meyts, Isabelle, Bucciol, Giorgia, Quinti, Isabella, Neven, Bénédicte, Fischer, Alain, Seoane, Elena, Lopez-Granados, Eduardo, Gianelli, Carla, Robles-Marhuenda, Angel, Jeandel, Pierre-Yves, Paillard, Catherine, Sankaran, Vijay G, Demirdag, Yesim Yilmaz, Lougaris, Vassilios, Aiuti, Alessandro, Plebani, Alessandro, Milito, Cinzia, Dalm, Virgil ASH, Guevara-Hoyer, Kissy, Sánchez-Ramón, Silvia, Bezrodnik, Liliana, Barzaghi, Federica, Gonzalez-Granado, Luis Ignacio, Hayman, Grant R, Uzel, Gulbu, Mendonça, Leonardo Oliveira, Agostini, Carlo, Spadaro, Giuseppe, Badolato, Raffaele, Soresina, Annarosa, Vermeulen, François, Bosteels, Cedric, Lambrecht, Bart N, Keller, Michael, Mustillo, Peter J, Abraham, Roshini S, Gupta, Sudhir, Ozen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Freeman, Alexandra F, Yamazaki-Nakashimada, Marco, Scheffler-Mendoza, Selma, Espinosa-Padilla, Sara, Gennery, Andrew R, Jolles, Stephen, Espinosa, Yazmin, Poli, M Cecilia, Fieschi, Claire, Hauck, Fabian, Cunningham-Rundles, Charlotte, Mahlaoui, Nizar, Errors of Immunity, IUIS Committee of Inborn, Warnatz, Klaus, Sullivan, Kathleen E, and Tangye, Stuart G

Subjects
Vaccine Related, Clinical Research, Pneumonia & Influenza, Prevention, Pediatric, Emerging Infectious Diseases, Pneumonia, Infectious Diseases, Lung, Biodefense, Rare Diseases, Good Health and Well Being, Adolescent, Adult, Aged, COVID-19, Child, Child, Preschool, Female, Genetic Diseases, Inborn, Humans, Immunologic Deficiency Syndromes, Infant, Infant, Newborn, Male, Middle Aged, Retrospective Studies, Risk Factors, SARS-CoV-2, Severity of Illness Index, Young Adult, primary immunodeficiencies, inborn errors of immunity, hypogammaglobulinemia, immune dysregulation, IUIS Committee of Inborn Errors of Immunity, Immunology, Allergy
Abstract

BackgroundThere is uncertainty about the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in individuals with rare inborn errors of immunity (IEI), a population at risk of developing severe coronavirus disease 2019. This is relevant not only for these patients but also for the general population, because studies of IEIs can unveil key requirements for host defense.ObjectiveWe sought to describe the presentation, manifestations, and outcome of SARS-CoV-2 infection in IEI to inform physicians and enhance understanding of host defense against SARS-CoV-2.MethodsAn invitation to participate in a retrospective study was distributed globally to scientific, medical, and patient societies involved in the care and advocacy for patients with IEI.ResultsWe gathered information on 94 patients with IEI with SARS-CoV-2 infection. Their median age was 25 to 34 years. Fifty-three patients (56%) suffered from primary antibody deficiency, 9 (9.6%) had immune dysregulation syndrome, 6 (6.4%) a phagocyte defect, 7 (7.4%) an autoinflammatory disorder, 14 (15%) a combined immunodeficiency, 3 (3%) an innate immune defect, and 2 (2%) bone marrow failure. Ten were asymptomatic, 25 were treated as outpatients, 28 required admission without intensive care or ventilation, 13 required noninvasive ventilation or oxygen administration, 18 were admitted to intensive care units, 12 required invasive ventilation, and 3 required extracorporeal membrane oxygenation. Nine patients (7 adults and 2 children) died.ConclusionsThis study demonstrates that (1) more than 30% of patients with IEI had mild coronavirus disease 2019 (COVID-19) and (2) risk factors predisposing to severe disease/mortality in the general population also seemed to affect patients with IEI, including more younger patients. Further studies will identify pathways that are associated with increased risk of severe disease and are nonredundant or redundant for protection against SARS-CoV-2.

Published
2021

11. University Students with Current Suicidal Ideation and Perceived Changes during the COVID-19 Pandemic: A Qualitative Study

Author

Montali, L, Zeppegno, P, Prebilic, A, Qosja, M, Brunetti, V, Zanoli, V, Bau, I, Poli, M, Madeddu, F, Gramaglia, C, Calati, R, Montali L., Zeppegno P., Prebilic A., Qosja M., Brunetti V., Zanoli V., Bau I., Poli M., Madeddu F., Gramaglia C., Calati R., Montali, L, Zeppegno, P, Prebilic, A, Qosja, M, Brunetti, V, Zanoli, V, Bau, I, Poli, M, Madeddu, F, Gramaglia, C, Calati, R, Montali L., Zeppegno P., Prebilic A., Qosja M., Brunetti V., Zanoli V., Bau I., Poli M., Madeddu F., Gramaglia C., and Calati R.

Abstract

IntroductionMental health problems seemed to have increased among university students during the COVID-19 pandemic. To deepen our understanding of the pandemic's effects in this population, we conducted qualitative research to investigate any perceived changes in students during the pandemic, differentiating the sample based on the presence or absence of current suicidal ideation (SI).MethodsA wide sample of Italian university students (n = 1,214) completed an online questionnaire during the COVID-19 pandemic, March 2020-June 2021. We conducted a computer-assisted content analysis of an open-ended question about the perceived changes that occurred to them during the pandemic.Results(1) Four thematic clusters were identified: "The psychological impact of the pandemic," "New ties and new loneliness," "An uncertain forethought" and "Discovering the value of relationships." (2) In subjects characterized by severe SI, the state of confinement at home was related to the most intense emotional states and worries. (3) Students with severe SI were different from the others, in particular using the lemma "panic," which was the only psychological state specifically associated with this group.ConclusionsStudents with current severe SI experienced higher level of psychological distress and suffering compared to the other groups during the pandemic.

Published
2024

12. Suicide-risk-related factors in a psychiatric patient cohort: a cross sectional study on outpatients, inpatients, and therapeutic community patients

Author

Gramaglia, C, Pontiggia, M, Magliocca, S, Patratanu, S, Valerio, E, Russotto, S, Bonaldi, S, Poli, M, Rigamonti, V, Rezzonico, G, Bailo, L, Zeppegno, P, Madeddu, F, Calati, R, Gramaglia C., Pontiggia M., Magliocca S., Patratanu S. M., Valerio E., Russotto S., Bonaldi S., Poli M., Rigamonti V., Rezzonico G., Bailo L., Zeppegno P., Madeddu F., Calati R., Gramaglia, C, Pontiggia, M, Magliocca, S, Patratanu, S, Valerio, E, Russotto, S, Bonaldi, S, Poli, M, Rigamonti, V, Rezzonico, G, Bailo, L, Zeppegno, P, Madeddu, F, Calati, R, Gramaglia C., Pontiggia M., Magliocca S., Patratanu S. M., Valerio E., Russotto S., Bonaldi S., Poli M., Rigamonti V., Rezzonico G., Bailo L., Zeppegno P., Madeddu F., and Calati R.

Abstract

Background. Suicide constitutes a significant global health concern. Joiner’s interpersonal-psychological theory of suicide focuses on three variables: Thwarted Belongingness (TB), Perceived Burdensomeness (PB) and Acquired Capability for Suicide. Methods. A sample of 90 psychiatric patients, comprising outpatients, inpatients and individuals residing in therapeutic communities, was recruited between 2021 and 2022. Scales measuring anxiety, depression, mental pain, reasons for living, TB, PB and fearlessness about death were administered. Patients with and without suicidal ideation (SI), as well as those with and without history of suicide attempt (SA) were compared and two stepwise logistic regression models were performed. Results. Both patients with SI and with SA had higher anxiety, depression, mental pain, PB, fearlessness about death and lower self-esteem. Notably, depression, PB and beliefs about coping strategies were strongly associated with SI, while higher fearlessness about death and PB were strongly linked to history of SA. Additionally, inpatients and therapeutic community patients were at higher risk of suicide and had higher levels of depression compared to outpatients. Limitations. The small sample size and the inclusion of patients with mixed psychiatric diagnoses limit the generalizability of the findings. The cross-sectional design hinders causal hypotheses about the relationship between current SI or past SA and potential risk factors. The use of self-report measures entails biases. The analyses did not include details about pharmacological treatments. Conclusions. SA history could be explained by fearlessness about death. Improving the ability to cope with suicidal thoughts constitutes a pivotal component of therapeutic interventions with suicidal patients.

Published
2024

15. Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders

Author

Forbes, Lisa R., Eckstein, Olive S., Gulati, Nitya, Peckham-Gregory, Erin C., Ozuah, Nmazuo W., Lubega, Joseph, El-Mallawany, Nader K., Agrusa, Jennifer E., Poli, M. Cecilia, Vogel, Tiphanie P., Chaimowitz, Natalia S., Rider, Nicholas L., Mace, Emily M., Orange, Jordan S., Caldwell, Jason W., Aldave-Becerra, Juan C., Jolles, Stephen, Saettini, Francesco, Chong, Hey J., Stray-Pedersen, Asbjorg, Heslop, Helen E., Kamdar, Kala Y., Rouce, R. Helen, Muzny, Donna M., Jhangiani, Shalini N., Gibbs, Richard A., Coban-Akdemir, Zeynep H., Lupski, James R., McClain, Kenneth L., Allen, Carl E., and Chinn, Ivan K.

Published
2022
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17. Impact of common cardio-metabolic risk factors on fatal and non-fatal cardiovascular disease in Latin America and the Caribbean: an individual-level pooled analysis of 31 cohort studies

Author

Carrillo-Larco, Rodrigo M., Stern, Dalia, Hambleton, Ian R., Hennis, Anselm, Cesare, Mariachiara Di, Lotufo, Paulo, Ferreccio, Catterina, Irazola, Vilma, Perel, Pablo, Gregg, Edward W, Miranda, J. Jaime, Ezzati, Majid, Danaei, Goodarz, Aguilar-Salinas, Carlos A, Alvarez-Váz, Ramón, Amadio, Marselle B, Baccino, Cecilia, Bambs, Claudia, Bastos, João Luiz, Beckles, Gloria, Bernabe-Ortiz, Antonio, Bernardo, Carla DO, Bloch, Katia V., Blümel, Juan E., Boggia, Jose G., Borges, Pollyanna K., Bravo, Miguel, Brenes-Camacho, Gilbert, Carbajal, Horacio A, Rascon, Maria S. Castillo, Ceballos, Blanca H., Colpani, Veronica, Cooper, Jackie A, Cortes, Sandra, Cortes-Valencia, Adrian, Cunha, Roberto S, d'Orsi, Eleonora, Dow, William H, Espeche, Walter G, Fuchs, Flavio D., Fuchs, Sandra C., Gimeno, Suely GA, Gomez-Velasco, Donaji, Gonzalez-Chica, David A, Gonzalez-Villalpando, Clicerio, Gonzalez-Villalpando, María-Elena, Grazioli, Gonzalo, Guerra, Ricardo O., Gutierrez, Laura, Herkenhoff, Fernando L, Horimoto, Andrea RVR, Huidobro, Andrea, Koch, Elard, Lajous, Martin, Lima-Costa, Maria Fernanda, Lopez-Ridaura, Ruy, Maciel, Alvaro CC, Manrique-Espinoza, Betty S, Marques, Larissa P, Mill, Jose G, Moreira, Leila B, Muñoz, Oscar M, Ono, Lariane M, Oppermann, Karen, Paiva, Karina M., Peixoto, Sergio V., Pereira, Alexandre C., Peres, Karen G., Peres, Marco A., Ramírez-Palacios, Paula, Rech, Cassiano R, Rivera-Paredez, Berenice, Rodriguez, Nohora I, Rojas-Martinez, Rosalba, Rosero-Bixby, Luis, Rubinstein, Adolfo, Ruiz-Morales, Alvaro, Salazar, Martin R, Salinas-Rodriguez, Aaron, Salmerón, Jorge, Sanchez, Ramon A, Silva, Nelson AS, Silva, Thiago LN, Smeeth, Liam, Spritzer, Poli M, Tartaglione, Fiorella, Tartaglione, Jorge, and Velázquez-Cruz, Rafael

Published
2021
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24. Profili probatori delle 'liberalità'. Riunione fittizia, azione di riduzione e collazione

Author

Anelli F., Briguglio A., Chizzini A., De Poli M., Gragnoli E., Orlandi M., Tosi L., Schiavone, Giovanni, Giovanni Schiavone (ORCID:0000-0002-2045-8858), Anelli F., Briguglio A., Chizzini A., De Poli M., Gragnoli E., Orlandi M., Tosi L., Schiavone, Giovanni, and Giovanni Schiavone (ORCID:0000-0002-2045-8858)

Abstract

Il contributo analizza la conformazione positiva delle liberalità dirette e indirette al fine di indagare come si atteggi il relativo onere probatorio - con particolare attenzione ai correttivi elaborati dalla giurisprudenza - nei giudizi in cui si richieda l'accertamento del carattere donativo di una vicenda negoziale, nella riunione fittizia, nell'azione di riduzione, nella collazione, anche con riguardo alle liberalità dissimulate.

Published
2024

25. L’onere della prova: profili di diritto internazionale privato

Author

Amatucci F., Anelli F., Ansanelli V., Avanzini P.P., Azara A., Bagarotto E.-M., Bizioli G., Bonfanti B., Bresciani I., Buccico C., Buta L., Campione F. Candeloro C., Carinci A., Carpentieri L., Cattaneo C.M., Cecchinato E., Cipolla G.M., Colli Vignarelli A., Coppola P., Corasaniti G., Cordeiro Guerra R., Cordopatri S., Corso S.M., D’Onofrio M., De Michiel F., De Poli M., del Federico L., Della Valle E., Di Noia F., Di Stasi A., Duprè G., Falsone M., Ferluga L., Ferrante V., Ficari V., Filice G., Fransoni G., Franza G., Franzina P., Galluzzo F., Garavaglia M., Giovanardi A., Giovannini A., Gragnoli E., Greco M.G., Greggi M., Greggio M., Ingrao G., Logozzo M., Marinelli M., Marini G., Marino G., Martinoli R., Melis G., Messina S.M., Montanari M., Muleo S., Nocera I.L., Nussi M., Olivelli F., Orlandi M., Ortoleva M.G., Palladini S., Paparella F., Parente S.A., Passanante L., Peruzzi M., Petrocelli F., Pozzaglia P., Prussiani C., Ragucci G., Randazzo F., Renna M., Romano A., Salvini L., Schiavone G., Serra C., Simionato A., Stevanato D., Tassi M., Tommasini D., Tosi L., Travi A., Trivellin M., Tundo F., Ubertis G., Uricchio A.F., Vanzetti M., Vianello R., Viotto A., Widmann P., Zaccarelli L., Zaccarelli V., Zizzo G., Briguglio A., Chizzini A., Franzina, Pietro, Franzina, P. (ORCID:0000-0001-9601-2281), Amatucci F., Anelli F., Ansanelli V., Avanzini P.P., Azara A., Bagarotto E.-M., Bizioli G., Bonfanti B., Bresciani I., Buccico C., Buta L., Campione F. Candeloro C., Carinci A., Carpentieri L., Cattaneo C.M., Cecchinato E., Cipolla G.M., Colli Vignarelli A., Coppola P., Corasaniti G., Cordeiro Guerra R., Cordopatri S., Corso S.M., D’Onofrio M., De Michiel F., De Poli M., del Federico L., Della Valle E., Di Noia F., Di Stasi A., Duprè G., Falsone M., Ferluga L., Ferrante V., Ficari V., Filice G., Fransoni G., Franza G., Franzina P., Galluzzo F., Garavaglia M., Giovanardi A., Giovannini A., Gragnoli E., Greco M.G., Greggi M., Greggio M., Ingrao G., Logozzo M., Marinelli M., Marini G., Marino G., Martinoli R., Melis G., Messina S.M., Montanari M., Muleo S., Nocera I.L., Nussi M., Olivelli F., Orlandi M., Ortoleva M.G., Palladini S., Paparella F., Parente S.A., Passanante L., Peruzzi M., Petrocelli F., Pozzaglia P., Prussiani C., Ragucci G., Randazzo F., Renna M., Romano A., Salvini L., Schiavone G., Serra C., Simionato A., Stevanato D., Tassi M., Tommasini D., Tosi L., Travi A., Trivellin M., Tundo F., Ubertis G., Uricchio A.F., Vanzetti M., Vianello R., Viotto A., Widmann P., Zaccarelli L., Zaccarelli V., Zizzo G., Briguglio A., Chizzini A., Franzina, Pietro, and Franzina, P. (ORCID:0000-0001-9601-2281)

Abstract

1. La diversità delle regole statali in tema di onere probatorio e il problema del conflitto di leggi. - 2. Il quadro delle fonti. - 3. Il diritto internazionale privato delle prove, fra lex processus e lex causae. - 4. La legge regolatrice dell’onere della prova: la tesi processualistica e quella sostanzialistica. - 5. La soluzione accolta nella convenzione di Roma del 1980 e nei regolamenti Roma I e Roma II. - 6. Il generale favore tributato alla tesi sostanzialistica. - 7. Rilievi conclusivi: lo stato dell’arte in Italia.

Published
2024

26. L'assicurazione del patrimonio e di cose

Author

Pellerino, G, Marchetti P - Bray E, De Poli, M, Vito Russo, T, Murgo, C, Chironi, M, Zurlo, A, Bosetti, F, Gagliardi, M, Greco, G G, Dito, D A, Albanese, L, Pardini, S, Iorio, G, Onnis Cugia, F, Greco, F, Bugli, A - Travaglino G P, Montani V, Marino R, Marilena Gorgoni e Fernando Greco, Pellerino, G, Marchetti P - Bray E, De Poli, M, Vito Russo, T, Murgo, C, Chironi, M, Zurlo, A, Bosetti, F, Gagliardi, M, Greco, G G, Dito, D A, Albanese, L, Pardini, S, Iorio, G, Onnis Cugia, F, Greco, F, Bugli, A - Travaglino G P, Montani V, Marino R, and Marilena Gorgoni e Fernando Greco

Abstract

Il contributo intende esaminare le principali problematiche riguardanti l'assicurazione del patrimonio e di cose. Si ha riguardo, in particolare: all'assicurazione sulla casa, all'assicurazione dell'auto e di altri veicoli; all'assicurazione di macchinari industriali; all'assicurazione delle opere d'arte; all'assicurazione per eventi che incidono sulla "capacità reddituale" dell'assicurato

Published
2024

27. MicroRNA-146a as a Prognostic Biomarker for Esophageal Squamous Cell Carcinoma

Author

Sadegh Shesh Poli M, Khajeniazi S, Behnampour N, Kalani MR, Moradi A, and Marjani A

Subjects
mir-146a, cyclooxygenase-2, esophageal cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Maryam Sadegh Shesh Poli,1 Safoura Khajeniazi,2 Nasser Behnampour,3 Mohammad Reza Kalani,4 Abdolvahab Moradi,5 Abdoljalal Marjani6 1School of New Technologies, Golestan University of Medical Sciences, Gorgan, Iran; 2Medical Cellular and Molecular Research Center, Golestan University of Medical Sciences, Gorgan, Iran; 3Health Management and Social Development Research Center, Gorgan, Iran; 4Molecular Medicine Research Center, Golestan University of Medical Sciences, Gorgan, Iran; 5Gastroenterology and Hepatology Research Center, Golestan University of Medical Sciences, Gorgan, Iran; 6Abdoljalal Marjani Metabolic Disorders Research Center, Department of Biochemistry and Biophysics, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, IranCorrespondence: Abdolvahab MoradiGastroenterology and Hepatology Research Center, Golestan University of Medical Sciences, Gorgan 4934174515, IranTel +98 9111772107Email abmoradi@yahoo.comAbdoljalal MarjaniMetabolic Disorders Research Center, Department of Biochemistry and Biophysics, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Golestan Province 4934174515, IranTel +98 171 4421651Fax +98 171 4440225Email abdoljalal@yahoo.comBackground and Aims: MicroRNAs including miR146a have a regulatory role on the expression of genes and act with binding to 3ʹ-UTR region of the genes. Cyclooxygenase-2 (COX-2) is involved in carcinogenesis as an inflammatory marker, and microRNA-146a (miR-146a) as a negative regulatory factor. We aimed to evaluate miR146a expression as a prognostic or diagnostic biomarker for esophageal squamous cell carcinoma (ESCC) and also an association between miR146a and COX2 expression.Materials and Methods: We quantified the level of miR-146a and COX-2 expression in cancerous and adjacent normal tissue samples obtained from 34 patients with ESCC, using real-time–PCR. Statistical analyses were conducted using one-sample t-test. Receiver-operating characteristic (ROC) curve and Kaplan–Meier analysis were applied to assay miR146a as a diagnostic and prognostic marker, respectively, during 4 years of the study. Furthermore, the Cox regression model was performed to assay the hazard ratio (HR). The association between miR-146a and COX2 expression level in ESCC patients was evaluated by nonparametric Spearman’s rho analysis.Results: The results revealed a reduction of miR-146a expression in 50% of cancerous tissue when compared with adjacent normal regions (P-value=0.127). COX-2 expression in 80% of ESCC patients was higher than in the controls (P-value=0.001). Overall, in 60% of cases, direct association was seen between microRNA-146a and COX-2 expression level (correlation coefficient= 0.438, P-value=0.011). COX2 can be considered as a diagnostic biomarker (AUC=0.834, sensitivity=72%, specificity =83%, P-value< 0.0001) but miR146a cannot be considered as a diagnostic biomarker (AUC=0.553, sensitivity=88%, specificity =28%, P-value=0.453). Survival analysis by Kaplan–Meier method showed miR146a and COX2 expression can be probably considered as prognostic biomarkers for ESCC because patients with high expression of miR146a had 7 months shorter life span and patients with low expression of COX2 had 8 months shorter life span.Conclusion: COX2 expression is a diagnostic biomarker. MiR-146a and COX2 expression can probably be considered as prognostic biomarkers for survival in ESCC.Keywords: miR-146a, cyclooxygenase-2, esophageal cancer

Published
2020

30. Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis

Author

Chinn, Ivan K., Eckstein, Olive S., Peckham-Gregory, Erin C., Goldberg, Baruch R., Forbes, Lisa R., Nicholas, Sarah K., Mace, Emily M., Vogel, Tiphanie P., Abhyankar, Harshal A., Diaz, Maria I., Heslop, Helen E., Krance, Robert A., Martinez, Caridad A., Nguyen, Trung C., Bashir, Dalia A., Goldman, Jordana R., Stray-Pedersen, Asbjørg, Pedroza, Luis A., Poli, M. Cecilia, Aldave-Becerra, Juan C., McGhee, Sean A., Al-Herz, Waleed, Chamdin, Aghiad, Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Cao, Tram N., Hong, Diana N., Gibbs, Richard A., Lupski, James R., Orange, Jordan S., McClain, Kenneth L., and Allen, Carl E.

Published
2018
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31. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

Author

Poli, M. Cecilia, Ebstein, Frédéric, Nicholas, Sarah K., de Guzman, Marietta M., Forbes, Lisa R., Chinn, Ivan K., Mace, Emily M., Vogel, Tiphanie P., Carisey, Alexandre F., Benavides, Felipe, Coban-Akdemir, Zeynep H., Gibbs, Richard A., Jhangiani, Shalini N., Muzny, Donna M., Carvalho, Claudia M.B., Schady, Deborah A., Jain, Mahim, Rosenfeld, Jill A., Emrick, Lisa, Lewis, Richard A., Lee, Brendan, Zieba, Barbara A., Küry, Sébastien, Krüger, Elke, Lupski, James R., Bostwick, Bret L., and Orange, Jordan S.

Published
2018
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32. 49Cr: Towards full spectroscopy up to 4 MeV

Author

Brandolini, F., Ribas, R. V., Axiotis, M., De Poli, M., Menegazzo, R., Napoli, D. R., Pavan, P., Sanchez-Solano, J., Lenzi, S., Dewald, A., Fitzler, A., Jessen, K., Kasemann, S., and Brentano, P. v.

Subjects
Nuclear Experiment
Abstract

The nucleus 49Cr has been studied analysing gamma-gamma coincidences in the reaction 46Ti(alpha,n)49Cr at the bombarding energy of 12 MeV. The level scheme has been greatly extended at low excitation energy and several new lifetimes have been determined by means of the Doppler Shift Attenuation Method. Shell model calculations in the full pf configuration space reproduce well negative-parity levels. Satisfactory agreement is obtained for positive parity levels by extending the configuration space to include a nucleon-hole either in the 1d3/2 or in the 2s1/2 orbitals. A nearly one-to-one correspondence is found between experimental and theoretical levels up to an excitation energy of 4 MeV. Experimental data and shell model calculations are interpreted in terms of the Nilsson diagram and the particle-rotor model, showing the strongly coupled nature of the bands in this prolate nucleus. Nine values of K(pi) are proposed for the levels observed in this experiment. As a by-result it is shown that the values of the experimental magnetic moments in 1f7/2 nuclei are well reproduced without quenching the nucleon g-factors., Comment: 13 pages, 8 figures

Published
2004
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35. Bayesian analysis of the constraints on gamma from B --> K pi rates and CP asymmetries in the flavour-SU(3) approach

Author

Bargiotti, M., Bertin, A., Bruschi, M., Capponi, M., De Castro, S., Fabbri, L., Faccioli, P., Galli, D., Giacobbe, B., Marconi, U., Massa, I., Piccinini, M., Poli, M., Cesari, N. Semprini, Spighi, R., Vagnoni, V., Vecchi, S., Villa, M., Vitale, A., and Zoccoli, A.

Subjects
High Energy Physics - Phenomenology
Abstract

The relation between the branching ratios and direct CP asymmetries of B --> K pi decays and the angle gamma of the CKM unitarity triangle is studied numerically in the general framework of the SU(3) approach, with minimal assumptions about the parameters not fixed by flavour-symmetry arguments. Experimental and theoretical uncertainties are subjected to a statistical treatment according to the Bayesian method. In this context, the experimental limits recently obtained by CLEO, BaBar and Belle for the direct CP asymmetries are translated into the bound |gamma - 90 deg| > 21 deg at the 95% C.L.. A detailed analysis is carried out to evaluate the conditions under which measurements of the CP averaged branching ratios may place a significant constraint on gamma. Predictions for the ratios of charged (R_c) and neutral (R_n) B --> K pi decays are also presented., Comment: LaTeX, 16 pages, 11 figures, 1 table. Accepted for publication in Eur. Phys. J. C

Published
2002
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36. Present knowledge of the Cabibbo-Kobayashi-Maskawa matrix

Author

Bargiotti, M., Bertin, A., Bruschi, M., Capponi, M., De Castro, S., Dona', R., Faccioli, P., Galli, D., Giacobbe, B., Marconi, U., Massa, I., Piccinini, M., Poli, M., Semprini-Cesari, N., Spighi, R., Vagnoni, V., Vecchi, S., Villa, M., Vitale, A., and Zoccoli, A.

Subjects
High Energy Physics - Phenomenology
Abstract

A complete review of the Cabibbo-Kobayashi-Maskawa (CKM) matrix elements and of the experimental methods for their determination is presented. A critical analysis of the relevant experimental results, and in particular of the most recent ones, allows to improve the accuracies of all the matrix elements. A chi-square minimization with the three-family unitarity constraint on the CKM matrix is performed to test the current interpretation of the CP violating phenomena inside the Standard Model. A complete and unambiguous solution satisfying all the imposed constraints is found. As a by-product of the fit, the precision on the values of the matrix elements is further increased and it is possible to obtain estimates for the important CP violation observables $sin 2\beta$, $sin 2\alpha$ and $\gamma$. Finally, an independent estimation of the CKM elements based on a Bayesian approach is performed. This complementary method constitutes a check of the results obtained, providing also the probability functions of the CKM elements and of the related quantities., Comment: 81 pages, 1 file (with 15 figures); v2: misprints corrected on pages 32 & 35

Published
2000
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37. Band termination in the N=Z Odd-Odd Nucleus 46V

Author

Lenzi, S. M., Napoli, D. R., Ur, C. A., Bazzacco, D., Brandolini, F., Cameron, J. A., Caurier, E., de Angelis, G., De Poli, M., Farnea, E., Gadea, A., Hankonen, S., Lunardi, S., Martinez-Pinedo, G., Podolyak, Zs., Poves, A., Alvarez, C. Rossi, Sanchez-Solano, J., and Somacal, H.

Subjects
Nuclear Experiment
Abstract

High spin states in the odd-odd N=Z nucleus 46V have been identified. At low spin, the T=1 isobaric analogue states of 46Ti are established up to I = 6+. Other high spin states, including the band terminating state, are tentatively assigned to the same T=1 band. The T=0 band built on the low-lying 3+ isomer is observed up to the 1f7/2-shell termination at I=15. Both signatures of a negative parity T=0 band are observed up to the terminating states at I = 16- and I = 17-, respectively. The structure of this band is interpreted as a particle-hole excitation from the 1d3/2 shell. Spherical shell model calculations are found to be in excellent agreement with the experimental results., Comment: 5 pages, 4 figures

Published
1999
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40. Effects of different insulin sensitisers in the management of polycystic ovary syndrome: A systematic review and meta‐analysis

Author

Melin, Johanna M., primary, Forslund, Maria, additional, Alesi, Simon J., additional, Piltonen, Terhi, additional, Romualdi, Daniela, additional, Spritzer, Poli M., additional, Tay, Chau Thien, additional, Pena, Alexia S., additional, Witchel, Selma F., additional, Mousa, Aya, additional, and Teede, Helena J., additional

Published
2023
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43. Rationale and design of the DARWIN-T2D (DApagliflozin Real World evIdeNce in Type 2 Diabetes): A multicenter retrospective nationwide Italian study and crowdsourcing opportunity

Author

Consoli, A., Formoso, G., Antenucci, D., Grossi, G., Pucci, A., Sesti, G., Andreozzi, F., Indrieri, L., Capobianco, G., Gatti, A., Bonadonna, R., Zavaroni, I., Dei Cas, A., Felace, G., Li Volsi, P., Buzzetti, R., Leto, G., D'Angelo, F., Morano, S., Giaccari, A., Sorice, G., Orsi, E., Carlo Bossi, A., Querci, F., Duratorre, E., Malagola, C., Franzetti, I., Silvia Morpurgo, P., Boemi, M., Petrelli, M., Aimaretti, G., Karamouzis, I., Cavalot, F., Saglietti, G., Gruden, G., Devangelio, E., Cazzetta, G., Lamacchia, O., Cervone, S., Frittitta, L., Arena, S., Di Benedetto, A., Piro, S., Giordano, C., Rizzo, M., Chianetta, R., Mannina, C., Solini, A., Natali, A., Anichini, R., Dotta, F., Fattor, B., Avogaro, A., Fadini, G.P., Bonora, E., Cigolini, M., Simioni, N., Frison, V., Poli, M., Lapolla, A., Cristiano Chilelli, N., Vinci, C., and Zatti, G.

Published
2017
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46. Excited States in 52Fe and the Origin of the Yrast Trap at I=12+

Author

Ur, C. A., Bucurescu, D., Lenzi, S. M., Martinez-Pinedo, G., Napoli, D. R., Bazzacco, D., Brandolini, F., Brink, D. M., Cameron, J. A., de Angelis, G., De Poli, M., Gadea, A., Lunardi, S., Marginean, N., Nagarajan, M. A., Pavan, P., Alvarez, C. Rossi, and Svensson, C. E.

Subjects
Nuclear Experiment, Nuclear Theory
Abstract

Excited states in 52Fe have been determined up to spin 10\hbar in the reaction 28Si + 28Si at 115 MeV by using \gamma-ray spectroscopy methods at the GASP array. The excitation energy of the yrast 10+ state has been determined to be 7.381 MeV, almost 0.5 MeV above the well known \beta+-decaying yrast 12+ state, definitely confirming the nature of its isomeric character. The mean lifetimes of the states have been measured by using the Doppler Shift Attenuation method. The experimental data are compared with spherical shell model calculations in the full pf-shell., Comment: 9 pages, RevTeX, 7 figures included

Published
1997
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50. Effects of Estradiol Therapy on Resting-State Functional Connectivity of Transgender Women After Gender-Affirming Related Gonadectomy

Author

Maiko A. Schneider, Poli M. Spritzer, Luciano Minuzzi, Benicio N. Frey, Sabrina K. Syan, Tayane M. Fighera, Karine Schwarz, Ângelo B. Costa, Dhiordan C. da Silva, Cláudia C. G. Garcia, Anna M. V. Fontanari, André G. Real, Maurício Anes, Juliana U. Castan, Fernanda R. Cunegatto, and Maria I. R. Lobato

Subjects
gender dysphoria, hypogonadism, estradiol, functional connectivity, sensorimotor cortex, putamen, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

An extreme incongruence between sex and gender identity leads individuals with gender dysphoria (GD) to seek cross-sex hormone therapy (CSHT), and gender-affirming surgery (GAS). Although few studies have investigated the effects of CSHT on the brain prior to GAS, no studies in the extant literature have evaluated its impact during hypogonadism in post-GAS individuals. Here, we aimed to evaluate the effects of estradiol on resting-state functional connectivity (rs-FC) of the sensorimotor cortex (SMC) and basal ganglia following surgical hypogonadism. Eighteen post-GAS (male-to-female) participants underwent functional magnetic resonance imaging (fMRI) and neuropsychiatric and hormonal assessment at two time points (t1, hormonal washout; t2, CSHT reintroduction). Based on the literature, the thalamus was selected as a seed, while the SMC and the dorsolateral striatum were targets for seed-based functional connectivity (sbFC). A second sbFC investigation consisted of a whole-brain voxel exploratory analysis again using the thalamus as a seed. A final complementary data-driven approach using multivoxel pattern analysis (MVPA) was conducted to identify a potential seed for further sbFC analyses. An increase in the rs-FC between the left thalamus and the left SCM/putamen followed CSHT. MVPA identified a cluster within the subcallosal cortex (SubCalC) representing the highest variation in peak activation between time points. Setting the SubCalC as a seed, whole-brain analysis showed a decoupling between the SubCalC and the medial frontal cortex during CSHT. These results indicate that CSHT with estradiol post-GAS, modulates rs-FC in regions engaged in cognitive, emotional, and sensorimotor processes.

Published
2019
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