1,469 results on '"Gambineri, A."'
Search Results
52. Solar orientation in Sphaeroma serratum from Ghar El Melh lagoon (Northern Tunisia)
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Bourguiba, Kaouther, Nasri-Ammar, Karima, Gambineri, Simone, and El Gtari, Mohamed
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- 2021
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53. Exogenous Factors and Female Reproductive Health
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Gambineri, Alessandra, additional and Ibarra-Gasparini, Daniela, additional
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- 2021
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54. Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival
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Cluster B, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Vallée, Tanja C., Glasmacher, Jannik S., Buchner, Hannes, Arkwright, Peter D., Behrends, Uta, Bondarenko, Anastasia, Browning, Michael J., Buchbinder, David, Cattoni, Alessandro, Chernyshova, Liudmyla, Ciznar, Peter, Cole, Theresa, Czogała, Wojciech, Dueckers, Gregor, Edgar, John David M., Erbey, Fatih, Fasth, Anders, Ferrua, Francesca, Formankova, Renata, Gambineri, Eleonora, Gennery, Andrew R., Goldman, Frederick D., Gonzalez-Granado, Luis I., Heilmann, Carsten, Heiskanen-Kosma, Tarja, Juntti, Hanna, Kainulainen, Leena, Kanegane, Hirokazu, Karaca, Neslihan E., Kilic, Sara S., Klein, Christoph, Kołtan, Sylwia, Kondratenko, Irina, Meyts, Isabelle, Nasrullayeva, Gulnara M., Notarangelo, Lucia D., Pasic, Srdjan, Pellier, Isabelle, Pignata, Claudio, Misbah, Siraj, Schulz, Ansgar, Segundo, Gesmar R., Shcherbina, Anna, Slatter, Mary, Sokolic, Robert, Soler-Palacin, Pere, Stepensky, Polina, van Montfrans, Joris M., Ryhänen, Samppa, Wolska-Kuśnierz, Beata, Ziegler, John B., Zhao, Xiaodong, Aiuti, Alessandro, Ochs, Hans D., Albert, Michael H., Cluster B, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Vallée, Tanja C., Glasmacher, Jannik S., Buchner, Hannes, Arkwright, Peter D., Behrends, Uta, Bondarenko, Anastasia, Browning, Michael J., Buchbinder, David, Cattoni, Alessandro, Chernyshova, Liudmyla, Ciznar, Peter, Cole, Theresa, Czogała, Wojciech, Dueckers, Gregor, Edgar, John David M., Erbey, Fatih, Fasth, Anders, Ferrua, Francesca, Formankova, Renata, Gambineri, Eleonora, Gennery, Andrew R., Goldman, Frederick D., Gonzalez-Granado, Luis I., Heilmann, Carsten, Heiskanen-Kosma, Tarja, Juntti, Hanna, Kainulainen, Leena, Kanegane, Hirokazu, Karaca, Neslihan E., Kilic, Sara S., Klein, Christoph, Kołtan, Sylwia, Kondratenko, Irina, Meyts, Isabelle, Nasrullayeva, Gulnara M., Notarangelo, Lucia D., Pasic, Srdjan, Pellier, Isabelle, Pignata, Claudio, Misbah, Siraj, Schulz, Ansgar, Segundo, Gesmar R., Shcherbina, Anna, Slatter, Mary, Sokolic, Robert, Soler-Palacin, Pere, Stepensky, Polina, van Montfrans, Joris M., Ryhänen, Samppa, Wolska-Kuśnierz, Beata, Ziegler, John B., Zhao, Xiaodong, Aiuti, Alessandro, Ochs, Hans D., and Albert, Michael H.
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- 2024
55. Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone
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Oriolo, C., Fanelli, F., Castelli, S., Mezzullo, M., Altieri, P., Corzani, F., Pelusi, C., Repaci, A., Di Dalmazi, G., Vicennati, V., Baldazzi, L., Menabò, S., Dormi, A., Nardi, E., Brillanti, G., Pasquali, R., Pagotto, U., and Gambineri, A.
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- 2020
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56. The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019)
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Lougaris, Vassilios, Pession, Andrea, Baronio, Manuela, Soresina, Annarosa, Rondelli, Roberto, Gazzurelli, Luisa, Benvenuto, Alessio, Martino, Silvana, Gattorno, Marco, Biondi, Andrea, Zecca, Marco, Marinoni, Maddalena, Fabio, Giovanna, Aiuti, Alessandro, Marseglia, Gianluigi, Putti, Maria Caterina, Agostini, Carlo, Lunardi, Claudio, Tommasini, Alberto, Bertolini, Patrizia, Gambineri, Eleonora, Consolini, Rita, Matucci, Andrea, Azzari, Chiara, Danieli, Maria Giovanna, Paganelli, Roberto, Duse, Marzia, Cancrini, Caterina, Moschese, Viviana, Chessa, Luciana, Spadaro, Giuseppe, Civino, Adele, Vacca, Angelo, Cardinale, Fabio, Martire, Baldassare, Carpino, Luigi, Trizzino, Antonino, Russo, Giovanna, Cossu, Fausto, Badolato, Raffaele, Pietrogrande, Maria Cristina, Quinti, Isabella, Rossi, Paolo, Ugazio, Alberto, Pignata, Claudio, and Plebani, Alessandro
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- 2020
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57. Digital and experimental synergies to design high-heeled shoes
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Milazzo, Mario, Spezzaneve, Andrea, Persichetti, Alessandro, Tomasi, Massimo, Peselli, Valentina, Messina, Angelo, Gambineri, Francesca, Aringhieri, Giacomo, and Roccella, Stefano
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- 2020
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58. Endocrine Disorders
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Gambineri, Alessandra, Altieri, Paola, Ibarra-Gasparini, Daniela, Tarricone, Ilaria, editor, and Riecher-Rössler, Anita, editor
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- 2019
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59. Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study
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Ebe Schiavo, Beatrice Martini, Enrico Attardi, Filippo Consonni, Sara Ciullini Mannurita, Maria Luisa Coniglio, Marco Tellini, Elena Chiocca, Ilaria Fotzi, Laura Luti, Irene D’Alba, Marinella Veltroni, Claudio Favre, and Eleonora Gambineri
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autoimmune cytopenia ,autoimmune thrombocytopenia ,autoimmune hemolytic anemia ,autoimmune neutropenia ,Evans syndrome ,immunophenotyping ,Immunologic diseases. Allergy ,RC581-607 - Abstract
Inborn errors of immunity (IEI) are genetic disorders characterized by a wide spectrum of clinical manifestations, ranging from increased susceptibility to infections to significant immune dysregulation. Among these, primary immune regulatory disorders (PIRDs) are mainly presenting with autoimmune manifestations, and autoimmune cytopenias (AICs) can be the first clinical sign. Significantly, AICs in patients with IEI often fail to respond to first-line therapy. In pediatric patients, autoimmune cytopenias can be red flags for IEI. However, for these cases precise indicators or parameters useful to suspect and screen for a hidden congenital immune defect are lacking. Therefore, we focused on chronic/refractory AIC patients to perform an extensive clinical evaluation and multiparametric flow cytometry analysis to select patients in whom PIRD was strongly suspected as candidates for genetic analysis. Key IEI-associated alterations causative of STAT3 GOF disease, IKAROS haploinsufficiency, activated PI3Kδ syndrome (APDS), Kabuki syndrome and autoimmune lymphoproliferative syndrome (ALPS) were identified. In this scenario, a dysregulated immunophenotype acted as a potential screening tool for an early IEI diagnosis, pivotal for appropriate clinical management and for the identification of new therapeutic targets.
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- 2022
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60. Reflectance spectra classification for the rapid assessment of water ecological quality in Mediterranean ports
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Massi, Luca, Maselli, Fabio, Rossano, Claudia, Gambineri, Simone, Chatzinikolaou, Evangelia, Dailianis, Thanos, Arvanitidis, Christos, Nuccio, Caterina, Scapini, Felicita, and Lazzara, Luigi
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- 2019
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61. Talitrid (Crustacea, Amphipoda) orientation as across scale bioindicator of sandy beaches environmental conditions: A meta-analytic approach
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Scapini, Felicita, Bessa, Filipa, Gambineri, Simone, and Bozzeda, Fabio
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- 2019
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62. Behavioral, socio-environmental, educational and demographic correlates of excess body weight in Italian adolescents and young adults
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Pelusi, C., Altieri, P., Gambineri, A., Repaci, A., Cavazza, C., Fanelli, F., Morselli-Labate, A.M., Pagotto, U., and Pasquali, R.
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- 2019
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63. Sindrome dell’ovaio policistico e infezione da COVID-19
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Gambineri, Alessandra and Dionese, Paola
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- 2022
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64. European lipodystrophy registry: background and structure
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Julia von Schnurbein, Claire Adams, Baris Akinci, Giovanni Ceccarini, Maria Rosaria D’Apice, Alessandra Gambineri, Raoul C. M. Hennekam, Isabelle Jeru, Giovanna Lattanzi, Konstanze Miehle, Gabriele Nagel, Giuseppe Novelli, Ferruccio Santini, Ermelinda Santos Silva, David B. Savage, Paolo Sbraccia, Jannik Schaaf, Ekaterina Sorkina, George Tanteles, Marie-Christine Vantyghem, Camille Vatier, Corinne Vigouroux, Elena Vorona, David Araújo-Vilar, and Martin Wabitsch
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Lipodystrophy ,Registry ,Rare diseases ,Adipose tissue ,Medicine - Abstract
Abstract Background Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because of the rarity of each lipodystrophy subform, research in this area is difficult and international co-operation mandatory. Therefore, in 2016, the European Consortium of Lipodystrophies (ECLip) decided to create a registry for patients with lipodystrophy. Results The registry was build using the information technology Open Source Registry System for Rare Diseases in the EU (OSSE), an open-source software and toolbox. Lipodystrophy specific data forms were developed based on current knowledge of typical signs and symptoms of lipodystrophy. The platform complies with the new General Data Protection Regulation (EU) 2016/679 by ensuring patient pseudonymization, informational separation of powers, secure data storage and security of communication, user authentication, person specific access to data, and recording of access granted to any data. Inclusion criteria are all patients with any form of lipodystrophy (with the exception of HIV-associated lipodystrophy). So far 246 patients from nine centres (Amsterdam, Bologna, Izmir, Leipzig, Münster, Moscow, Pisa, Santiago de Compostela, Ulm) have been recruited. With the help from the six centres on the brink of recruitment (Cambridge, Lille, Nicosia, Paris, Porto, Rome) this number is expected to double within the next one or 2 years. Conclusions A European registry for all patients with lipodystrophy will provide a platform for improved research in the area of lipodystrophy. All physicians from Europe and neighbouring countries caring for patients with lipodystrophy are invited to participate in the ECLip Registry. Study registration ClinicalTrials.gov (NCT03553420). Registered 14 March 2018, retrospectively registered.
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- 2020
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65. Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study
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Hägele, Pauline, primary, Staus, Paulina, additional, Scheible, Raphael, additional, Uhlmann, Annette, additional, Heeg, Maximilian, additional, Klemann, Christian, additional, Maccari, Maria Elena, additional, Ritterbusch, Henrike, additional, Armstrong, Martin, additional, Cutcutache, Ioana, additional, Elliott, Katherine S, additional, von Bernuth, Horst, additional, Leahy, Timothy Ronan, additional, Leyh, Jörg, additional, Holzinger, Dirk, additional, Lehmberg, Kai, additional, Svec, Peter, additional, Masjosthusmann, Katja, additional, Hambleton, Sophie, additional, Jakob, Marcus, additional, Sparber-Sauer, Monika, additional, Kager, Leo, additional, Puzik, Alexander, additional, Wolkewitz, Martin, additional, Lorenz, Myriam Ricarda, additional, Schwarz, Klaus, additional, Speckmann, Carsten, additional, Rensing-Ehl, Anne, additional, Ehl, Stephan, additional, Abinun, Mario, additional, Abrahamsen, Tore, additional, Albert, Michael, additional, Almalky, Mohamed, additional, Altaf, Sadaf, additional, Babayeva, Royala, additional, Bakhtiar, Shahrzad, additional, Baris, Safa, additional, Baumann, Ulrich, additional, Becker, Martina, additional, Berger, Thomas, additional, Biebl, Ariane, additional, Bielack, Stefan, additional, Biskup, Saskia, additional, Bismarck, Philipp, additional, Bode, Sebastian, additional, Borchers, Regine, additional, Boztug, Carl Friedrich, additional, Brockmann, Knut, additional, Bruwier, Annelyse, additional, Buchholz, Bernd, additional, Cant, Andrew, additional, Castro, Carla N, additional, Classen, Carl, additional, Claviez, Alexander, additional, Crazzolara, Roman, additional, Cuntz, Franziska, additional, Dąbrowska-Leonik, Nel, additional, Derichs, Ute, additional, Dückers, Gregor, additional, Eberl, Wolfgang, additional, Ebetsberger-Dachs, Georg, additional, Erlacher, Miriam, additional, Fabre, Alexandre, additional, Faletti, Laura, additional, Farmand, Susan, additional, Figueiredo, Antonio, additional, Fischer, Marco, additional, Flaadt, Tim, additional, Full, Hermann, additional, Gambineri, Eleonora, additional, Girschick, Hermann, additional, Goldacker, Sigune, additional, Grimbacher, Bodo, additional, Groß, Miriam, additional, Gruhn, Andrew J, additional, Gungoren, Ezgi, additional, Haberfellner, Florian, additional, Hague, Rosie, additional, Hauch, Holger, additional, Hauck, Fabian, additional, Heine, Sabine, additional, Huisman, Elise, additional, Jakovljevic, Gordana, additional, James, Beki, additional, Janda, Ales, additional, Janda, Małgorzata, additional, Jones, Neil, additional, Kaiser-Labusch, Petra, additional, Kentouche, Karim, additional, Knight, Julian, additional, Knirsch, Stephanie, additional, Kontny, Udo, additional, Körholz, Julia, additional, Krenn, Ezgi Yalcin, additional, Kuehnle, Ingrid, additional, Kühne, Thomas, additional, Lee-Dimroth, Jae-Yun, additional, Lehmann, Hartwig, additional, Leipold, Michael H., additional, Meinhardt, Andrea, additional, Mönkemöller, Kirsten, additional, Morbach, Henner, additional, Mücke, Urs, additional, Nathrath, Michaela, additional, Naumann-Bartsch, Nora, additional, Neth, Olaf, additional, Niemeyer, Charlotte, additional, Olbrich, Peter, additional, Ostró, Róbert, additional, Owens, Stephen, additional, Pac, Malgorzata, additional, Pachlopnik Schmid, Rita, additional, Page, Markus G., additional, Pekrun, Arnulf, additional, Prader, Seraina, additional, Proietti, Michele, additional, Rajacic, Nada, additional, Rothoeft, Tobias, additional, Ryan, Freimut H., additional, Salou, Sarah, additional, Salzer, Elisabeth, additional, Savic, Sinisa, additional, Schilling, Antonio E., additional, Schmid, Jana, additional, Schönberger, Stefan, additional, Schuetz, Catharina, additional, Schuez-Havupalo, Tore G., additional, Schulte, Björn, additional, Schulz, Ansgar, additional, Schuster, Volker, additional, Seidel, Markus, additional, Siepermann, Kathrin, additional, Smisek, Petr, additional, Soomann, Maarja, additional, Stiefel, Martina, additional, Storck, Simone, additional, Strahm, Brigitte, additional, Streiter, Elise J, additional, Teltschik, Charlotte M., additional, Thalhammer, Julian, additional, Tippelt, Stephan, additional, Toskov, Vasil, additional, Trück, Johannes, additional, Vieth, Simon, additional, Wegehaupt, Oliver, additional, and Wiesel, Thomas, additional
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- 2024
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66. Climatically Induced Degradation Processes in Conserved Archaeological Wood Studied by Time-lapse Photography
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Mortensen, Martin Nordvig, Chaumat, Gilles, Gambineri, Francesca, Kutzke, Hartmut, Łucejko, Jeannette Jacqueline, McQueen, Caitlin M. A., Modugno, Francesca, Tamburini, Diego, and Taube, Michelle
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- 2019
67. European survey of diagnosis and management of the polycystic ovary syndrome: full report on the ESE PCOS Special Interest Group's 2023 Questionnaire.
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Livadas, Sarantis, Yildiz, Bulent O, Mastorakos, George, Gambineri, Alessandra, Pignatelli, Duarte, Giorgino, Francesco, Andersen, Marianne Skovsager, Obermayer-Pietsch, Barbara, Macut, Djuro, and Group, ESE PCOS Special Interest
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POLYCYSTIC ovary syndrome ,ORAL contraceptives ,PHYSICIANS ,MEDICAL screening ,MASS spectrometry - Abstract
Background Although polycystic ovary syndrome (PCOS) is a very common endocrinopathy, there are several issues related to this disorder which perplex clinicians in their everyday practice. Objective To determine the current state of knowledge among European endocrinologists concerning the full spectrum of PCOS. Methods An online survey comprising 41 items covering various aspects of PCOS diagnosis and management was distributed to members of the European Society of Endocrinology. Results A total of 505 European endocrinologists (64% females), with a mean age of 47 ± 11.6 years, participated in the survey. The Rotterdam criteria were the primary diagnostic tool for 85% of respondents. Most referrals (87.1%) occurred between ages 20 and 40 years. Twenty-five percent of physicians have access to mass spectrometry for the evaluation of androgen levels. While an extended metabolic profile was commonly employed as part of the workup, there was uncertainty regarding chronic anovulation diagnosis. Diabetes, including gestational or type 2, was recognized as a significant risk factor with universal screening irrespective of BMI status. Lifestyle modification and metformin were considered as standard interventions by all participants alongside oral contraceptives, though there was significant discrepancy in treatment duration. Conclusions The Rotterdam diagnostic criteria are widely adopted for PCOS diagnosis among European endocrinologists. The current updated survey shows an emphasis on steroid profiling as an important part of diagnostic workup and a strong position held for recognition of PCOS as a metabolic condition with potentially serious implications. Current therapy thus shifted to the demand for prioritizing lifestyle interventions and metabolic therapies, either as monotherapy or in combination with standard hormone compounds. [ABSTRACT FROM AUTHOR]
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- 2024
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68. IPEX Syndrome and IPEX-Related Disorders
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Schiavo, Ebe, primary, Goda, Rayan, additional, Ciullini Mannurita, Sara, additional, and Gambineri, Eleonora, additional
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- 2021
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69. Enhancing antimicrobial and antiviral properties of Cynara scolymus L. waste through enzymatic pretreatment and lactic fermentation
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Cioni, Emily, primary, Di Stasi, Mauro, additional, Iacono, Elena, additional, Lai, Michele, additional, Quaranta, Paola, additional, Luminare, Antonella Giuliana, additional, Gambineri, Francesca, additional, De Leo, Marinella, additional, Pistello, Mauro, additional, and Braca, Alessandra, additional
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- 2023
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70. A COUNTRYWIDE STUDY OF GATA2 DEFICIENCY IN ITALY REVEALS NOVEL SYMPTOMS AND GENOTYPE-PHENOTYPE CORRELATION
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Roncareggi, Samuele, primary, Girardi, Katia, additional, Fioredda, Francesca, additional, Pedace, Lucia, additional, Arcuri, Luca, additional, Badolato, Raffaele, additional, Bonanomi, Sonia, additional, Borlenghi, Erika, additional, Cirillo, Emilia, additional, Coliva, Tiziana, additional, Consonni, Filippo, additional, Conti, Francesca, additional, Farruggia, Piero, additional, Gambineri, Eleonora, additional, Guerra, Fabiola, additional, Mancuso, Gaia, additional, Marzollo, Antonio, additional, Masetti, Riccardo, additional, Micalizzi, Concetta, additional, Onofrillo, Daniela, additional, Pignata, Claudio, additional, Santini, Valeria, additional, Vendemini, Francesca, additional, Biondi, Andrea, additional, and Saettini, Francesco, additional
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- 2023
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71. Broad-spectrum virucidal activity of a hydroalcoholic extract of grape pomace
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Iacono, Elena, primary, Di Marzo, Carlo, additional, Di Stasi, Mauro, additional, Cioni, Emily, additional, Gambineri, Francesca, additional, Luminare, Antonella Giuliana, additional, De Leo, Marinella, additional, Braca, Alessandra, additional, Quaranta, Paola, additional, Lai, Michele, additional, Freer, Giulia, additional, and Pistello, Mauro, additional
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- 2023
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72. Altered adipocyte differentiation and unbalanced autophagy in type 2 Familial Partial Lipodystrophy: an in vitro and in vivo study of adipose tissue browning
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Camilla Pellegrini, Marta Columbaro, Elisa Schena, Sabino Prencipe, Davide Andrenacci, Patricia Iozzo, Maria Angela Guzzardi, Cristina Capanni, Elisabetta Mattioli, Manuela Loi, David Araujo-Vilar, Stefano Squarzoni, Saverio Cinti, Paolo Morselli, Assuero Giorgetti, Laura Zanotti, Alessandra Gambineri, and Giovanna Lattanzi
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Medicine ,Biochemistry ,QD415-436 - Abstract
Fat tissue disorders: Dysfunctional fat cell differentiation An abnormal distribution of fatty tissues associated with certain tissue disorders is driven by disrupted fat cell differentiation. Type 2 familial partial lipodystrophy (FPLD2) is a genetic condition that results in fat being lost from the limbs and accumulating in the face and neck. Giovanna Lattanzi at the National Research Council of Italy in Bologna and co-workers found that fat cell (adipocyte) precursors did not clearly differentiate into either of the two main fatty tissue types, brown or white, in FPLD2 patients. White adipocyte precursors exhibited impaired lipid formation and abnormal levels of brown tissue markers. Conversely, brown adipocyte precursors showed high lipid levels and increased autophagy, a natural process involving degradation and recycling of cellular components. The neck is normally where brown fat accumulates, but FPLD2 patients had adipocytes there displaying white fat characteristics.
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- 2019
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73. Deconstructing responses of sandy beach arthropodofauna to shoreline erosion: looking for the proper spatial scale to monitor biodiversity
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Scapini, Felicita, Gambineri, Simone, and Fanini, Lucia
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- 2018
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74. A Surface Acoustic Wave (SAW)-Based Lab-on-Chip for the Detection of Active α-Glycosidase
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Mariacristina Gagliardi, Matteo Agostini, Francesco Lunardelli, Alessio Miranda, Antonella Giuliana Luminare, Fabrizio Cervelli, Francesca Gambineri, and Marco Cecchini
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SAW ,acoustic sensor ,α-glycosidase ,enzyme detection ,Biotechnology ,TP248.13-248.65 - Abstract
Enzyme detection in liquid samples is a complex laboratory procedure, based on assays that are generally time- and cost-consuming, and require specialized personnel. Surface acoustic wave sensors can be used for this application, overcoming the cited limitations. To give our contribution, in this work we present the bottom-up development of a surface acoustic wave biosensor to detect active α-glycosidase in aqueous solutions. Our device, optimized to work at an ultra-high frequency (around 740 MHz), is functionalized with a newly synthesized probe 7-mercapto-1-eptyl-D-maltoside, bringing one maltoside terminal moiety. The probe is designed ad hoc for this application and tested in-cuvette to analyze the enzymatic conversion kinetics at different times, temperatures and enzyme concentrations. Preliminary data are used to optimize the detection protocol with the SAW device. In around 60 min, the SAW device is able to detect the enzymatic conversion of the maltoside unit into glucose in the presence of the active enzyme. We obtained successful α-glycosidase detection in the concentration range 0.15–150 U/mL, with an increasing signal in the range up to 15 U/mL. We also checked the sensor performance in the presence of an enzyme inhibitor as a control test, with a signal decrease of 80% in the presence of the inhibitor. The results demonstrate the synergic effect of our SAW Lab-on-a-Chip and probe design as a valid alternative to conventional laboratory tests.
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- 2022
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75. IL-2 Signaling Axis Defects: How Many Faces?
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Filippo Consonni, Claudio Favre, and Eleonora Gambineri
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immune dysregulation ,primary immunodeficiencies ,IPEX ,regulatory T cells ,CD25 ,STAT5B ,Pediatrics ,RJ1-570 - Abstract
CD25, Signal transducer and activator of transcription 5B (STAT5B) and Forkhead box P3 (FOXP3) are critical mediators of Interleukin-2 (IL-2) signaling pathway in regulatory T cells (Tregs). CD25 (i.e., IL-2 Receptor α) binds with high affinity to IL-2, activating STAT5B-mediated signaling that eventually results in transcription of FOXP3, a master regulator of Treg function. Consequently, loss-of-function mutations in these proteins give rise to Treg disorders (i.e., Tregopathies) that clinically result in multiorgan autoimmunity. Immunodysregulation, Polyendocrinopathy Enteropathy X-linked (IPEX), due to mutations in FOXP3, has historically been the prototype of Tregopathies. This review describes current knowledge about defects in CD25, STAT5B, and FOXP3, highlighting that these disorders both share a common biological background and display comparable clinical features. However, specific phenotypes are associated with each of these syndromes, while certain laboratory findings could be helpful tools for clinicians, in order to achieve a prompt genetic diagnosis. Current treatment strategies will be outlined, keeping an eye on gene editing, an interesting therapeutic perspective that could definitely change the natural history of these disorders.
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- 2021
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76. The Endocrine Regulation of Energy and Body Weight
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Preiato, Valentina Lo, Vicennati, Valentina, Gambineri, Alessandra, Pagotto, Uberto, Lenzi, Andrea, Series editor, Jannini, Emmanuele A., Series editor, Belfiore, Antonino, editor, and LeRoith, Derek, editor
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- 2018
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77. Endo&Art why Diana is depicted with mild androgenic alopecia?
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Gambineri, A. and Trimarchi, F.
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- 2022
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78. Albiglutide and cardiovascular outcomes in patients with type 2 diabetes and cardiovascular disease (Harmony Outcomes): a double-blind, randomised placebo-controlled trial
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Del Prato, Stefano, McMurray, John J.V., D'Agostino, Ralph B., Granger, Christopher B., Hernandez, Adrian F., Janmohamed, Salim, Leiter, Lawrence A., Califf, Robert M, Holman, Rury, DeMets, David, Riddle, Matthew, Goodman, Shaun, McGuire, Darren, Alexander, Karen, Devore, Adam, Melloni, Chiara, Patel, Chetan, Kong, David, Bloomfield, Gerald, Roe, Matthew, Tricoci, Pierluigi, Harrison, Rob, Lopes, Renato, Mathews, Robin, Mehta, Rajendra, Schuyler Jones, William, Vemulapalli, Sreekanth, Povsic, Thomas, Eapen, Zubin, Dombrowski, Keith, Kolls, Brad, Jordan, Dedrick, Ambrosy, Andrew, Greene, Stephen, Mandawat, Aditya, Shavadia, Jay, Cooper, Lauren, Sharma, Abhinav, Guimaraes, Patricia, Friedman, Daniel, Wilson, Matt, Endsley, Patricia, Gentry, Tracy, Collier, Jeannie, Perez, Kathleen, James, Kourtnei, Roush, Jennifer, Pope, Connie, Howell, Christina, Johnson, Megan, Bailey, Matt, Cole, Joanna, Akers, Teresa, Vandyne, Beth, Thomas, Betsy, Rich, Jenny, Bartone, Susan, Beaulieu, Gail, Brown, Kim, Chau, Tuan, Christian, Tamra, Coker, Rebecca, Greene, Deb, Haddock, Trevorlyn, Jenkins, Wendy, Haque, Ghazala, Marquess, Marsha, Pesarchick, Jean, Rethaford, Renee, Stone, Allegra, Al Kawas, Firas, Anderson, Michelle, Enns, Robert, Sinay, Isaac, Mathieu, Chantal, Yordanov, Victor, Hramiak, Irene, Haluzik, Martin, Galatius, Søren, Guerci, Bruno, Nauck, Michael, Migdalis, Ilias, Tan, Choon Beng Kathryn, Kocsis, Gyozo, Giaccari, Andrea, Lee, Moon Kyu, Muñoz, Ernesto German Cardona, Cornel, Jan, Birkeland, Kare, Pinto, Miguel, Tirador, Louie, Olesinska-Mader, Martyna, Shestakova, Marina, Distiller, Larry, Lopez-Sendon, Jose, Eliasson, Bjorn, Chiang, Chern-En, Srimahachota, Suphot, Mankovsky, Boris, Bethel, M Angelyn, Dungan, Kathleen, Kosiborod, Mikhail, Alvarisqueta, Andres, Baldovino, Jorge, Besada, Diego, Calella, Pedro, Cantero, Maria Cecilia, Castaño, Patricia, Chertkoff, Alejandro, Cuadrado, Jesus, De Loredo, Luis, Dominguez, Andrea, Español, Maria Vanesa, Finkelstein, Hernan, Frechtel, Gustavo, Fretes, Jose, Garrido Santos, Natalia, Gonzalez, Joaquin, Litvak, Marcos, Loureyro, Juan, Maffei, Laura, Maldonado, Natacha, Mohr Gasparini, Diego, Orio, Silvia, Perez Manghi, Federico, Rodriguez Papini, Nelson, Sala, Jorgelina, Schygiel, Pablo, Sposetti, Georgina, Ulla, Maria, Verra, Fernando, Zabalua, Silvina, Zaidman, Cesar, Crenier, Laurent, Debroye, Corinne, Duyck, Francis, Scheen, André, Van Gaal, Luc, Vercammen, Chris, Damyanova, Velichka, Dimitrov, Stefan, Kovacheva, Snezhina, Lozanov, Lachezar, Margaritov, Viktor, Mihaylova-Shumkova, Rositsa, Nikolaeva, Antoaneta, Stoyanova, Zhasmina, Akhras, Ronald, Beaudry, Yves, Bedard, Jacques, Berlingieri, Joseph, Chehayeb, Raja, Cheung, Stephen, Conway, James, Cusson, Jean, Della Siega, Anthony, Dumas, Richard, Dzongowski, Peter, Ferguson, Murdo, Gaudet, Daniel, Grondin, Francois, Gupta, Anil, Gupta, Milan, Halperin, Frank, Houle, Pierre-Alain, Jones, Michael, Kouz, Simon, Kovacs, Christopher, Landry, Daniel, Lonn, Eva, O'Mahony, William, Peterson, Sean, Reich, Dennis, Rosenbloom, Alan, St-Maurice, Francois, Tugwell, Barna, Vizel, Saul, Woo, Vincent, Brychta, Tomas, Cech, Vladimir, Dvorakova, Eva, Edelsberger, Tomas, Halciakova, Katarina, Krizova, Jarmila, Lastuvka, Jiri, Piperek, Martin, Prymkova, Vera, Raclavska, Lea, Silhova, Elena, Urbanek, Robin, Vrkoc, Jan, Andersen, Ulla, Brønnum-Schou, Jens, Hove, Jens, Jensen, Jan Skov, Kober, Lars, Kristiansen, Ole Peter, Lund, Per, Melchior, Thomas, Nyvad, Ole, Schou, Morten, Boye, Alain, Cadinot, Didier, Gouet, Didier, Henry, Patrick, Kessler, Laurence, Lalau, Jean-Daniel, Petit, Catherine, Thuan, Jean-Francois, Voinot, Christel, Vouillarmet, Julien, Axthelm, Christoph, Berger, Dirk, Bieler, Tasso, Birkenfeld, Andreas, Bott, Jochen, Busch, Klaus, Caca, Karel, Chevts, Julia, Donaubauer, Torsten, Erlinger, Rudolf, Funke, Klaus, Grosskopf, Josef, Hagenow, Andreas, Hamann, Monika, Hartard, Manfred, Heymer, Peter, Huppertz, Wolfgang, Illies, Gabriele, Jacob, Stephan, Jung, Thomas, Kahrmann, Gerd, Kast, Petra, Kellerer, Monika, Kempe, Hans-Peter, Khariouzov, Andrei, Klausmann, Gerhard, Klein, Christiane, Kleinecke-Pohl, Uwe, Kleinertz, Klaus, Koch, Thorsten, Kosch, Christine, Lorra, Babette, Luedemann, Joerg, Luttermann, Matthias, Maxeiner, Stephan, Milek, Karsten, Moelle, Andrea, Neumann, Gerhard, Nischik, Ruth, Oehrig-Pohl, Edith, Plassmann, Georg, Pohlmeier, Lars, Proepper, Felix, Regner, Stefan, Rieker, Werner, Rose, Ludger, Samer, Holger, Sauter, Joachim, Schaper, Frank, Schiffer, Clemens, Schmidt, Juergen, Scholz, Bernd-M., Schulze, Joerg, Segner, Alexander, Seufert, Jochen, Sigal, Helena, Steindorf, Joerg, Stockhausen, Juergen, Stuebler, Petra, Taeschner, Heidrun, Tews, Dietrich, Tschoepe, Diethelm, Wilhelm, Karl, Zeller-Stefan, Helga, Avramidis, Iakovos, Bousboulas, Stavros, Bristianou, Magdalini, Dimitriadis, Georgios, Elisaf, Moses, Kotsa, Kalliopi, Melidonis, Andreas, Mitrakou, Asimina, Pagkalos, Emmanouil, Papanas, Nikolaos, Pappas, Angelos, Sampanis, Christos, Tentolouris, Nikolaos, Tsapas, Apostolos, Tzatzagou, Glykeria, Ozaki, Risa, Hajdú, Csaba, Harcsa, Eleonóra, Konyves, Laszlo, Mucsi, János, Pauker, Zsolt, Petró, Gizella, Plés, Zsolt, Revesz, Katalin, Sándor, Vangel, Vass, Viktor, Avogaro, Angelo, Boemi, Massimo, Bonadonna, Riccardo, Consoli, Agostino, De Cosmo, Salvatore, Di Bartolo, Paolo, Dotta, Francesco, Frontoni, Simona, Galetta, Marianna, Gambineri, Alessandra, Gazzaruso, Carmine, Giorgino, Francesco, Lauro, Davide, Orsi, Emanuela, Paolisso, Giuseppe, Perriello, Gabriele, Piatti, Piermarco, Pontiroli, Antonio, Ponzani, Paola, Rivellese, Angela Albarosa, Sesti, Giorgio, Tonolo, Giancarlo, Trevisan, Roberto, Ahn, Chul Woo, Baik, Sei-Hyun, Cha, Bong-Soo, Chung, Choon-Hee, Jang, Hak Chul, Kim, Chong-Jin, Kim, Hye Soon, Kim, In Joo, Lee, Eun Young, Lee, Hyoung Woo, Lee, Kwan-Woo, Moon, Keon-Woong, Namgung, June, Park, Kyong Soo, Yoo, Soon Jib, Yu, Jaemyung, Llamas, Edmundo-Alfredo Bayram, Cervantes-Escárcega, Jose-Luis, Flota-Cervera, Luis Fernando, González-González, José Gerardo, Pascoe-Gonzalez, Sara, Pelayo-Orozco, Emilia Susana, Ramirez-Diaz, Santiago-Paulino, Saldana-Mendoza, Arturo, Jerjes-Díaz, Carlos Sánchez, Torres-Colores, Jose Juan, Vidrio-Velázquez, Maricela, Villagordoa-Mesa, Juan, Beijerbacht, Hugo Peter, Groutars, Reginald G.E.J., Hoek, Boudewijn A, Hoogslag, Pieter A.M., Kooy, Adriaan, Kragten, Johannes A., Lieverse, Aloysius G., Swart, Hendrik P., Viergever, Eric P., Ahlqvist, Jørn, Cooper, John, Gulseth, Hanne, Guttormsen, Gaute, Wium, Cecilie, Arbañil, Hugo, Calderon, Jorge, Camacho, Luis, Espinoza, Augusto Dextre, Garrido, Elizabeth, Luna, Alejandro, Manrique, Helard, Revoredo, Frederick Massucco, Gonzales, Rolando Vargas, Rincon, Luis Zapata, Zubiate, Carlos, Ebo, Geraldine, Morales-Palomares, Ellen, Arciszewska, Malgorzata, Banach, Marek, Bijata-Bronisz, Renata, Derezinski, Tadeusz, Gadzinski, Waldemar, Gajek, Jacek, Klodawska, Katarzyna, Krzyzagorska, Ewa, Madej, Andrzej, Miekus, Pawel, Opiela, Jaroslaw, Romanczuk, Piotr, Siegel, Anna, Skokowska, Ewa, Stankiewicz, Andrzej, Stasinska, Teresa, Trznadel-Morawska, Iwona, Witek, Robert, Aksentyev, Sergey, Bondar, Irina, Demidova, Irina, Dreval, Alexander, Ershova, Olga, Galstyan, Gagik, Garganeeva, Alla, Izmozherova, Nadezhda, Karetnikova, Victoria, Kharakhulakh, Marina, Khokhlov, Aleksandr, Kobalava, Zhanna, Koshelskaya, Olga, Kosmacheva, Elena, Kostin, Vladimir, Koziolova, Natalia, Kuzin, Anatoly, Lesnov, Victor, Lysenko, Tatyana, Markov, Valentin, Mayorov, Alexander, Moiseev, Sergey, Myasoedova, Svetlana, Petunina, Nina, Rebrov, Andrey, Ruyatkina, Ludmila, Samoylova, Julia, Sazonova, Olga, Shilkina, Natalia, Sokolova, Nadezhda, Vasilevskaya, Olga, Verbovaya, Nelli, Vishneva, Elena, Vorobyev, Sergey, Vorokhobina, Natalya, Zanozina, Olga, Zhdanova, Elena, Zykova, Tatyana, Burgess, Lesley, Coetzee, Kathleen, Dawood, Saleem, Lombard, Landman, Makotoko, Ellen, Moodley, Rajendran, Oosthuysen, Wessels, Sarvan, Mohamed, Calvo Gómez, Carlos, Cano Rodríguez, Isidoro, Castro Conde, Almudena, Cequier Fillat, Angel, Cuatrecasas Cambra, Guillem, de Álvaro Moreno, Fernando, De Teresa Parreño, Luis, Delgado Lista, Javier, Domínguez Escribano, José Ramón, Durán García, Santiago, Elvira González, Javier, Fernández Rodríguez, José María, Goday Arno, Alberto, Gomez Huelgas, Ricardo, González Juanatey, José Ramón, Hernandez Mijares, Antonio, Jiménez Díaz, Víctor Alfonso, Jodar Gimeno, Esteban, Lucas Morante, Tomás, Marazuela, Monica, Martell Claros, Nieves, Mauricio Puente, Didac, Mena Ribas, Elena, Merino Torres, Juan Francisco, Mezquita Raya, Pedro, Nubiola Calonge, Andreu, Ordoñez Sánchez, Xavier, Pascual Izuel, Jose Maria, Perea Castilla, Verónica, Pérez Pérez, Antonio, Perez Soto, Isabel, Quesada Charneco, Miguel, Quesada Simón, Angustias, Redón Mas, Josep, Rego Iraeta, Antonia, Rodriguez Alvarez, Maria, Rodríguez Rodríguez, Irene, Sabán Ruiz, José, Soto González, Alfonso, Tinahones Madueno, Francisco, Trescoli Serrano, Carlos, Ulied Armiñana, Angels, Bachus, Erasmus, Berndtsson Blom, Katarina, Eliasson, Ken, Koskinen, Pekka, Larnefeldt, Hans, Lif-Tiberg, Cornelia, Linderfalk, Carina, Lund, Gustav, Lundman, Pia, Moris, Linda, Olsson, Åke, Salmonsson, Staffan, Sanmartin Berglund, Johan, Sjöberg, Folke, Söderberg, Stefan, Torstensson, Ingemar, Chen, Jung-Fu, Tien, Kai Jen, Tseng, Shih-Ting, Tu, Shih-Te, Wang, Chih-Yuan, Wang, Ji-Hung, Phrommintikul, Arintaya, Yamwong, Sukit, Jintapakorn, Woravut, Hutayanon, Pisit, Sansanayudh, Nakarin, Bazhan, Larysa, Fushtey, Ivan, Grachova, Mariya, Katerenchuk, Vitaliy, Korpachev, Vadym, Kravchun, Nonna, Larin, Oleksandr, Mykhalchyshyn, Galyna, Myshanych, Halyna, Oleksyk, Olga, Orlenko, Valeriia, Pashkovska, Nataliia, Pertseva, Nataliia, Petrosyan, Olena, Smirnov, Ivan, Vlasenko, Maryna, Zlova, Tetiana, Aye, Myint, Baksi, Arun, Balasubramani, Mathangi, Beboso, Ronnie, Blagden, Mark, Bundy, Charles, Cookson, Tobias, Copland, Allan, Emslie-Smith, Alistair, Green, Fiona, Gunstone, Anthony, Issa, Basil, Jackson-Voyzey, Ewart, Johnson, Andrew, Maclean, Malcolm, McKnight, John, Muzulu, Solomon, O'Connell, Ian, Oyesile, Babatunde, Patterson, Catherine, Pearson, Ewan, Philip, Sam, Smith, Paul, Sukumaran, Usha, Abbas, Jalal, Aggarwala, Gaurav, Akhter, Faiq, Andersen, James, Anglade, Moise, Argoud, Georges, Ariani, Mehrdad, Ashdji, Reswan, Bakhtari, Ladan, Banerjee, Subhash, Bartlett, Andrew, Baum, Howard, Bays, Harold, Beasley, Richard, Belfort de Aguiar, Renata, Benjamin, Sabrina, Bhagwat, Ravi, Bhargava, Anuj, Bode, Bruce, Bratcher, Christina, Briskin, Toby, Brockmyre, Andrew, Broughton, Raymond, Brown, Judith, Budhraja, Madhusudan, Cannon, Kevin, Carr, Jewell, Cathcart, Harold, Cavale, Arvind, Chaykin, Louis, Cheung, Deanna, Childress, Richard, Cohen, Allan, Condit, Jonathan, Cooksey, Erin, Cornett, George Mitchell, Dauber, Ira, Davila, William, De Armas, Luis, Dean, Julius, Detweiler, Robert, Diaz, Ernesto, Di Giovanna, Michael, Dor, Isaac, Drummond, Waymon, Eagerton, Donald, Earl, John, Eaton, Charles, Ellison, Howard, Farris, Neil, Fiel, Thomas, Firek, Anthony, First, Brian, Forgosh, Les, French, William, Gandy, Winston, Garcia, Ronald, Gill, Santosh, Gordon, Murray, Guice, Michael, Gummadi, Siva, Hackenyos, Jonathan, Hairston, Kristen, Hanson, Lenita, Harrison, Lindsay, Hartman, Israel, Heitner, John, Hejeebu, Srini, Hermany, Paul, Hernandez-Cassis, Carlos, Hidalgo, Horacio, Higgins, Alexander, Ibrahim, Hassan, Jacobs, Shahram, Johnson, David, Joshi, Parag, Kaster, Steven, Kellum, Daniel, Kim, Christopher, Kim, Ellen, Kirby, William, Knouse, Albert, Kulback, Steven, Kumar, Mariananda, Kuruvanka, Tulsidas, Labroo, Ajay, Lasswell, William, Lentz, John, Lenzmeier, Thomas, Lewis, David, Li, Zhaoping, Lillestol, Michael, Little, Raymond, Lorraine, Richard, McKeown-Biagas, Cecilia, McNeill, Robert, Mehta, Anand, Miller, Alan, Moran, Joseph, Morawski, Emily, Nadar, Venkatesh, O'Connor, Thomas, Odio, Alberto, Parker, Reginald, Patel, Rajesh, Phillips, Lawrence, Raad, George, Rahman, Aref, Raikhel, Marina, Raisinghani, Ajit, Rajan, Raj, Rasouli, Neda, Rauzi, Frank, Rohr, Kathryn, Roseman, Hal, Rovner, Sergio, Saba, Fadi, Sachson, Richard, Schabauer, Alex, Schneider, Ricky, Schuchard, Timothy, Sensenbrenner, John, Shlesinger, Yshay, Singh, Narendra, Sivalingam, Kanagaratnam, Stonesifer, Larry, Storey, Daniel, Suh, David, Tahir, Mohammed, Tan, Anjanette, Tan, Marilyn, Taylon, Alain, Thakkar, Maitreya, Tripathy, Devjit, Uwaifo, Gabriel, Vedere, Amarnath, Venugopal, Chandra, Vo, Anthony, Welch, Michelle, Welker, James, White, Alexander, Willis, John, Wynne, Alan, Yazdani, Shahram, Green, Jennifer B, Rosenberg, Anne, Price, Lauren, Sigmon, Kristina, Lokhngina, Yuliya, Xing, Weibing, Overton, Robert, Stewart, Murray, Stead, Janet, Lindsay, Alistair, Patel, Vickas, Ross, Jorge, Soffer, Joseph, Daga, Shruti, Sowell, Margaret, Patel, Prashant, Garvey, Louisa, Ackert, Jessica, Abraham, Sybil, Sabol, Mary Beth, Altobelli, Desma, Ha, JuYoung, Kulkarni, Mangesh, Somerville, Matthew, Noronha, Drusilla, Casson, Ed, Zang, Eddie, Sandhu, Chamandeep, Kumar, Rakesh, Chen, David, Taft, Lin, Patel, Rajivkumar, Ye, June, Shannon, Jennifer, Wilson, Tim, Babi, Charleen, Miller, Diane, Jones, Nigel P, Thorpe, Karl, Russell, Rachael, Bull, Georgina, Hereghty, Belinda, Fernandez-Salazar, Eva, Longley, Troy, Donaldson, Jill, Jarosz, Marie, Murphy, Karen, Adams, Patricia, Smith, Peter, James, Rachel, Richards, Jackie, Sedani, Sangeeta, Althouse, Denise, Watson, David, Lorimer, Jamie, Lauder, Steven, Schultheis, Ron, Womer, Terese, Wraight, Ella, Li, Wenyan, Price-Olsen, Emma, Watson, Anthony, Kelly, Aoife, McLaughlin, Patricia, Fleming, John, Schubert, Jessica, Schleiden, Debra, Harris, Tara, Prakash, Rahul, Breneman, Jody, Deshpande, Sameer, Saswadkar, Aarti, Kumari, Aditi, Shitut, Aditi, Raorane, Amruta, Karmalkar, Anisha, Mhambrey, Ankita, Bhosale, Archana, Vaphare, Ashok, Patil, Ashwini P, Khandelwal, Chaitali, Shaik, Fayaz, Nadar, Madhumitha, Karka, Mounika, Kadgaonkar, Neha, Gupta, Nikita, Aher, Nutan, Potnis, Omkar, Naicker, Pallavi, Shinde, Rakesh, Sharma, Richa, Godse, Rupali, Solanki, Sheetal, Sahu, Shruti, Dumbre, Snehal, Kumar, Somesh, Patil, Suradnya, Mandal, Trisha, Hernandez, Adrian F, D'Agostino, Ralph B, Sr, Granger, Christopher B, Leiter, Lawrence A, Rosenberg, Anne E, Sigmon, Kristina N, Somerville, Matthew C, Thorpe, Karl M, and McMurray, John J V
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- 2018
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79. Profiling plasma N-Acylethanolamine levels and their ratios as a biomarker of obesity and dysmetabolism
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Fanelli, Flaminia, Mezzullo, Marco, Repaci, Andrea, Belluomo, Ilaria, Ibarra Gasparini, Daniela, Di Dalmazi, Guido, Mastroroberto, Marianna, Vicennati, Valentina, Gambineri, Alessandra, Morselli-Labate, Antonio Maria, Pasquali, Renato, and Pagotto, Uberto
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- 2018
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80. Spatio-temporal benthic biodiversity patterns and pollution pressure in three Mediterranean touristic ports
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Chatzinikolaou, Eva, Mandalakis, Manolis, Damianidis, Panagiotis, Dailianis, Thanos, Gambineri, Simone, Rossano, Claudia, Scapini, Felicita, Carucci, Alessandra, and Arvanitidis, Christos
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- 2018
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81. Salivary cortisol and cortisone responses to short-term psychological stress challenge in late adolescent and young women with different hyperandrogenic states
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Mezzullo, Marco, Fanelli, Flaminia, Di Dalmazi, Guido, Fazzini, Alessia, Ibarra-Gasparini, Daniela, Mastroroberto, Marianna, Guidi, Jenny, Morselli-Labate, Antonio Maria, Pasquali, Renato, Pagotto, Uberto, and Gambineri, Alessandra
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- 2018
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82. Case Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/C
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Carolina Cecchetti, M. Rosaria D’Apice, Elena Morini, Giuseppe Novelli, Carmine Pizzi, Uberto Pagotto, and Alessandra Gambineri
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lipodystrophy ,rod domain ,LMNA gene ,cardiomyopathy ,laminopathy ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 - Abstract
PurposeFamilial partial lipodystrophy type 2 (FPLD2) patients generally develop a wide variety of severe metabolic complications. However, they are not usually affected by primary cardiomyopathy and conduction system disturbances, although a few cases of FPLD2 and cardiomyopathy have been reported in the literature. These were all due to amino-terminal heterozygous lamin A/C mutations, which are considered as new forms of overlapping syndromes.Methods and ResultsHere we report the identification of a female patient with FPLD2 due to a heterozygous missense variant c.604G>A in the exon 3 of the LMNA gene, leading to amino acid substitution (p.Glu202Lys) in the central alpha-helical rod domain of lamin A/C with a high propensity to form coiled-coil dimers. The patient’s cardiac evaluations that followed the genetic diagnosis revealed cardiac rhythm disturbances which were promptly treated pharmacologically.ConclusionsThis report supports the idea that there are “atypical forms” of FPLD2 with cardiomyopathy, especially when a pathogenic variant affects the lamin A/C head or alpha-helical rod domain. It also highlights how increased understanding of the genotype-phenotype correlation could help clinicians to schedule personalized monitoring of the lipodystrophic patient, in order to prevent uncommon but possible devastating manifestations, including arrhythmias and sudden death.
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- 2021
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83. Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome
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Claudia L. Gaefke, Jonathan Metts, Donya Imanirad, Daime Nieves, Paola Terranova, Gianluca Dell'Orso, Eleonora Gambineri, Maurizio Miano, Richard F. Lockey, Jolan Eszter Walter, and Emma Westermann-Clark
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ALPS (autoimmune lymphoproliferative syndrome) ,novel mutation ,Fas ,cytopenia ,lymphoproliferation ,Pediatrics ,RJ1-570 - Abstract
Autoimmune Lymphoproliferative Syndrome (ALPS), commonly caused by mutations in the FAS gene, is a disease with variable penetrance. Subjects may be asymptomatic, or they may present with lymphadenopathy, splenomegaly, cytopenias, or malignancy. Prompt recognition of ALPS is needed for optimal management. We describe a multi-generational cohort presenting with clinical manifestations of ALPS, and a previously unreported heterozygous missense variant of uncertain significance in FAS (c.758G >T, p.G253V), located in exon 9. Knowledge of the underlying genetic defect permitted prompt targeted therapy to treat acute episodes of cytopenia. This cohort underscores the importance of genetic testing in subjects with clinical features of ALPS and should facilitate the reclassification of this variant as pathogenic.
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- 2021
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84. Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome
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Uzel, Gulbu, Sampaio, Elizabeth P, Lawrence, Monica G, Hsu, Amy P, Hackett, Mary, Dorsey, Morna J, Noel, Richard J, Verbsky, James W, Freeman, Alexandra F, Janssen, Erin, Bonilla, Francisco A, Pechacek, Joseph, Chandrasekaran, Prabha, Browne, Sarah K, Agharahimi, Anahita, Gharib, Ahmed M, Mannurita, Sara C, Yim, Jae Joon, Gambineri, Eleonora, Torgerson, Troy, Tran, Dat Q, Milner, Joshua D, and Holland, Steven M
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Clinical Research ,Genetics ,Aetiology ,2.1 Biological and endogenous factors ,Inflammatory and immune system ,Adolescent ,Autoantibodies ,Cell Line ,Transformed ,Child ,Child ,Preschool ,DNA ,Female ,Forkhead Transcription Factors ,Genes ,Dominant ,Genetic Diseases ,X-Linked ,Humans ,Immunophenotyping ,Interferon-alpha ,Interferon-gamma ,Interleukin-17 ,Interleukins ,Intestinal Diseases ,Lymphocyte Subsets ,Male ,Mutation ,Phenotype ,Phosphorylation ,Polyendocrinopathies ,Autoimmune ,STAT1 Transcription Factor ,Syndrome ,T-Lymphocytes ,Regulatory ,Th17 Cells ,Transcriptional Activation ,Immunology ,Allergy - Abstract
BackgroundMutations in signal transducer and activator of transcription (STAT) 1 cause a broad spectrum of disease, ranging from severe viral and bacterial infections (amorphic alleles) to mild disseminated mycobacterial disease (hypomorphic alleles) to chronic mucocutaneous candidiasis (CMC; hypermorphic alleles). The hypermorphic mutations are also associated with arterial aneurysms, autoimmunity, and squamous cell cancers.ObjectiveWe sought to investigate the role of STAT1 gain-of-function mutations in phenotypes other than CMC.MethodsWe initially screened patients with CMC and autoimmunity for STAT1 mutations. We functionally characterized mutations in vitro and studied immune profiles and regulatory T (Treg) cells. After our initial case identifications, we explored 2 large cohorts of patients with wild-type forkhead box protein 3 and an immune dysregulation-polyendocrinopathy-enteropathy-X-linked (IPEX)-like phenotype for STAT1 mutations.ResultsWe identified 5 children with polyendocrinopathy, enteropathy, and dermatitis reminiscent of IPEX syndrome; all but 1 had a variety of mucosal and disseminated fungal infections. All patients lacked forkhead box protein 3 mutations but had uniallelic STAT1 mutations (c.629 G>T, p.R210I; c.1073 T>G, p.L358W, c.796G>A; p.V266I; c.1154C>T, T385M [2 patients]). STAT1 phosphorylation in response to IFN-γ, IL-6, and IL-21 was increased and prolonged. CD4(+) IL-17-producing T-cell numbers were diminished. All patients had normal Treg cell percentages in the CD4(+) T-cell compartment, and their function was intact in the 2 patients tested. Patients with cells available for study had normal levels of IL-2-induced STAT5 phosphorylation.ConclusionsGain-of-function mutations in STAT1 can cause an IPEX-like phenotype with normal frequency and function of Treg cells.
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- 2013
85. Very-low-calorie ketogenic diet (VLCKD) in the management of metabolic diseases: systematic review and consensus statement from the Italian Society of Endocrinology (SIE)
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Caprio, M., Infante, M., Moriconi, E., Armani, A., Fabbri, A., Mantovani, G., Mariani, S., Lubrano, C., Poggiogalle, E., Migliaccio, S., Donini, L. M., Basciani, S., Cignarelli, A., Conte, E., Ceccarini, G., Bogazzi, F., Cimino, L., Condorelli, R. A., La Vignera, S., Calogero, A. E., Gambineri, A., Vignozzi, L., Prodam, F., Aimaretti, G., Linsalata, G., Buralli, S., Monzani, F., Aversa, A., Vettor, R., Santini, F., Vitti, P., Gnessi, L., Pagotto, U., Giorgino, F., Colao, A., and Lenzi, A.
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- 2019
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86. Female infertility: which role for obesity?
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Gambineri, Alessandra, Laudisio, Daniela, Marocco, Chiara, Radellini, Stefano, Colao, Annamaria, Savastano, Silvia, and on behalf of the Obesity Programs of nutrition, Education, Research and Assessment (OPERA) group
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- 2019
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87. Impatto clinico delle nuove tecnologie in spettrometria di massa per il dosaggio degli steroidi
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Fanelli, Flaminia, Di Dalmazi, Guido, Mezzullo, Marco, Vicennati, Valentina, Pelusi, Carla, Pasquali, Renato, Gambineri, Alessandra, and Pagotto, Uberto
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- 2019
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88. Atypical Presentations of IPEX: Expect the Unexpected
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Filippo Consonni, Sara Ciullini Mannurita, and Eleonora Gambineri
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immune dysregulation ,IPEX ,regulatory T cells ,FOXP3 ,primary immunodeficiencies ,Pediatrics ,RJ1-570 - Abstract
Immune dysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome is a rare disorder that has become a model of monogenic autoimmunity. IPEX is caused by mutations in FOXP3 gene, a master regulator of regulatory T cells (Treg). Cases reported in the last 20 years demonstrate that IPEX clinical spectrum encompasses more than the classical triad of early-onset intractable diarrhea, type 1 diabetes (T1D) and eczema. Atypical cases of IPEX include patients with late-onset of symptoms, single-organ involvement, mild disease phenotypes or rare clinical features (e.g., atrophic gastritis, interstitial lung disease, nephropathy etc.). Several atypical presentations have recently been reported, suggesting that IPEX incidence might be underestimated. Immunosuppression (IS) treatment strategies can control the disease, however at the moment allogeneic hematopoietic stem cell transplantation (HSCT) is the only available definitive cure, therefore it is important to achieve a prompt diagnosis. This review aims to describe unusual clinical phenotypes, beyond classical IPEX. Overall, our analysis contributes to increase awareness and finally improve diagnosis and treatment intervention in IPEX in order to ensure a good quality of life.
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- 2021
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89. Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia
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Sara Ciullini Mannurita, Rayan Goda, Ebe Schiavo, Maria Luisa Coniglio, Annachiara Azzali, Ilaria Fotzi, Annalisa Tondo, Veronica Tintori, Stefano Frenos, Maria Chiara Sanvito, Marina Vignoli, Cristina Luceri, Elisabetta Bigagli, Alessia Grassi, Mario Milco D’Elios, Claudio Favre, and Eleonora Gambineri
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STAT3 gain-of-function ,spectrin deficiency ,primary immune regulatory disorders ,hereditary spherocytosis ,hemolytic anemia ,autoimmune lymphoproliferative syndrome ,Immunologic diseases. Allergy ,RC581-607 - Abstract
STAT3 gain-of-function (GOF) mutations can be responsible for an incomplete phenotype mainly characterized by hematological autoimmunity, even in the absence of other organ autoimmunity, growth impairment, or severe infections. We hereby report a case with an incomplete form of STAT3 GOF intensified by a concomitant hereditary hematological disease, which misleads the diagnosis. The patient presented with lymphadenopathy, splenomegaly, hypogammaglobulinemia, and severe autoimmune hemolytic anemia (AIHA) with critical complications, including stroke. A Primary Immune Regulatory Disorders (PIRD) was suspected, and molecular analysis revealed a de novo STAT3 gain-of-function mutation. The response to multiple immune suppressive treatments was ineffective, and further investigations revealed a spectrin deficiency. Ultimately, hematopoietic stem cell transplantation from a matched unrelated donor was able to cure the patient. Our case shows an atypical presentation of STAT3 GOF associated with hereditary spherocytosis, and how achievement of a good long-term outcome depends on a strict clinical and laboratory monitoring, as well as on prompt therapeutic intervention.
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- 2021
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90. Fundamental Concepts and Novel Aspects of Polycystic Ovarian Syndrome: Expert Consensus Resolutions
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Antonio Aversa, Sandro La Vignera, Rocco Rago, Alessandra Gambineri, Rossella E. Nappi, Aldo E. Calogero, and Alberto Ferlin
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PCOS ,medical therapy ,nutraceuticals ,PCOS carriers ,male PCOS ,consensus ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 - Abstract
Polycystic ovary syndrome (PCOS) is a very common endocrine and metabolic disorder with the involvement of both genetic and environmental factors. Although much has been clarified on its pathogenesis, diagnosis, clinical manifestations, and therapy, there are still areas of uncertainty. To address fundamental concepts, novel aspects and hypotheses, and future perspectives, including the possible additional benefits of treatment with nutraceuticals, an expert consensus panel formed by endocrinologists and gynecologists was established. After an independent review of the literature, the panel convened electronically on February 3, 2020, and six resolutions were created, debated, and agreed upon discussion, and finally approved in their final form in a consensus livestream meeting held on April 15. The summary of the resolutions are: (1) PCOS is a well-established medical condition that negatively affects reproduction, general health, sexual health, and quality of life; (2) the symptoms and signs of PCOS appear early in life especially in female newborns from PCOS carriers; (3) women with PCOS have significantly increased risk of pregnancy-related complications including gestational diabetes mellitus; (4) a male PCOS equivalent exists, and it may impact on metabolic health and probably on reproduction; (5) the evidence supports that medical therapy for PCOS is effective, rational, and evidence-based; (6) the evidence supports a major research initiative to explore possible benefits of nutraceutical therapy for PCOS. The proposed resolutions may be regarded as points of agreement based on the current scientific evidence available.
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- 2020
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91. Le PCOS secondarie a endocrinopatie
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Gambineri, Alessandra, Fanelli, Flaminia, Cecchetti, Carolina, and Pagotto, Uberto
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- 2021
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92. Effects of Nonthermal Plasma (NTP) on the Growth and Quality of Baby Leaf Lettuce (Lactuca sativa var. acephala Alef.) Cultivated in an Indoor Hydroponic Growing System
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Giulia Carmassi, Fatjon Cela, Alice Trivellini, Francesca Gambineri, Lamberto Cursi, Antonio Cecchi, Alberto Pardossi, and Luca Incrocci
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antioxidants ,chlorophyll a florescence ,eustress ,floating system ,hydroponics ,nonthermal plasma treatment ,Plant culture ,SB1-1110 - Abstract
The aim of this research was to develop an effective protocol for the application of nonthermal plasma (NTP) technology to the hydroponic nutrient solution, and to investigate its effects on the growth and quality of baby leaf lettuce (Lactuca sativa var. acephala Alef.) grown in a hydroponic growing system (HGS) specifically designed for indoor home cultivation. Four HGSs were placed in separate growth chambers with temperature of 24 ± 1 °C and relative humidity of 70 ± 5%). Lettuce plants were grown for nine days in nutrient solutions treated with NTP for 0 (control) to 120 s every hour. Results of the first experiments showed that the optimal operating time of NTP was 120 s h−1. Fresh leaf biomass was increased by the 60 and 120 s NTP treatments compared to the control. Treating the nutrient solution with NTP also resulted in greater leaf content of total chlorophylls, carotenoids, total phenols, and total antioxidant capacity. NTP also positively influenced chlorophyll a fluorescence in Photosystem I (PSI) and photosynthetic electron transport. These results revealed that the NTP treatment of the nutrient solution could improve the production and quality of hydroponically grown baby leaf lettuce.
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- 2022
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93. Genetic Disorders of Immune Regulation
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Speckmann, Carsten, Borkhardt, Arndt, Gaspar, Bobby, Gambineri, Eleonora, Ehl, Stephan, Rezaei, Nima, editor, Aghamohammadi, Asghar, editor, and Notarangelo, Luigi D., editor
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- 2017
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94. Mineralocorticoid Receptor Antagonism Prevents Type 2 Familial Partial Lipodystrophy Brown Adipocyte Dysfunction
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Schena, Elisa, primary, Mattioli, Elisabetta, additional, Peres, Chiara, additional, Zanotti, Laura, additional, Morselli, Paolo, additional, Iozzo, Patricia, additional, Guzzardi, Maria Angela, additional, Bernardini, Chiara, additional, Forni, Monica, additional, Nesci, Salvatore, additional, Caprio, Massimiliano, additional, Cecchetti, Carolina, additional, Pagotto, Uberto, additional, Gabusi, Elena, additional, Cattini, Luca, additional, Lisignoli, Gina, additional, Blalock, William, additional, Gambineri, Alessandra, additional, and Lattanzi, Giovanna, additional
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- 2023
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95. THU649 PCOS Phenotype In Unselected Populations (P-PUP) Study: Defining And Comparing Hirsutism Across Various Ethnic Groups In Unselected Populations
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Kiconco, Sylvia, primary, Joham, Anju Elizabeth, additional, Suturina, Larisa V, additional, Zhao, Xiaomiao, additional, Gambineri, Alessandra, additional, Tehrani, Fahimeh Ramezani, additional, Yildiz, Bulent Okan, additional, Kim, Jinju, additional, Teede, Helena Jane, additional, and Azziz, Ricardo, additional
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- 2023
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96. SAT380 Clinical, Metabolic And Hormonal Profile In Women Carrying Cyp21a2 Mutations
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Livadas, Sarantis, primary, Goulis, Dimitrios G, additional, Belardinelli, Elisabetta, additional, Armeni, Eleni, additional, Solmi, Beatrice, additional, Veneti, Stavroula, additional, Lambrinoudaki, Irene, additional, Cecchetti, Carolina, additional, Macut, Djuro P, additional, and Gambineri, Alessandra, additional
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- 2023
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97. Evolution of cardiovascular risk markers in polycystic ovary syndrome: Results from a long-term monocentric cohort study
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Cecchetti, Carolina, primary, Pandurevic, Srdjan, additional, Dionese, Paola, additional, Belardinelli, Elisabetta, additional, Rotolo, Laura, additional, Fanelli, Flaminia, additional, Bergamaschi, Luca, additional, Pizzi, Carmine, additional, Pagotto, Uberto, additional, and Gambineri, Alessandra, additional
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- 2023
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98. The Correlation between Objective Ligament Laxity and the Clinical Outcome of Mechanically Aligned TKA
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Campi, Stefano, primary, Papalia, Rocco, additional, Esposito, Carlo, additional, Candela, Vincenzo, additional, Gambineri, Andrea, additional, and Longo, Umile Giuseppe, additional
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- 2023
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99. SPIOMET4HEALTH—efficacy, tolerability and safety of lifestyle intervention plus a fixed dose combination of spironolactone, pioglitazone and metformin (SPIOMET) for adolescent girls and young women with polycystic ovary syndrome: study protocol for a multicentre, randomised, double-blind, placebo-controlled, four-arm, parallel-group, phase II clinical trial
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Garcia-Beltran, Cristina, primary, Malpique, Rita, additional, Andersen, Marianne S., additional, Bas, Firdevs, additional, Bassols, Judit, additional, Darendeliler, Feyza, additional, Díaz, Marta, additional, Dieris, Barbara, additional, Fanelli, Flaminia, additional, Fröhlich-Reiterer, Elke, additional, Gambineri, Alessandra, additional, Glintborg, Dorte, additional, López-Bermejo, Abel, additional, Mann, Christopher, additional, Marin, Silvia, additional, Obermayer-Pietsch, Barbara, additional, Ødegård, Rønnaug, additional, Ravn, Pernille, additional, Reinehr, Thomas, additional, Renzulli, Matteo, additional, Salvador, Cristina, additional, Singer, Viola, additional, Vanky, Eszter, additional, Torres, Juan Vicente, additional, Yildiz, Melek, additional, de Zegher, Francis, additional, and Ibáñez, Lourdes, additional
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- 2023
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100. Plasma 2-arachidonoylglycerol is a biomarker of age and menopause related insulin resistance and dyslipidemia in lean but not in obese men and women
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Fanelli, Flaminia, Mezzullo, Marco, Belluomo, Ilaria, Di Lallo, Valentina Diana, Baccini, Margherita, Ibarra Gasparini, Daniela, Casadio, Elena, Mastroroberto, Marianna, Vicennati, Valentina, Gambineri, Alessandra, Morselli-Labate, Antonio Maria, Pasquali, Renato, and Pagotto, Uberto
- Published
- 2017
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