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787 results on '"Romano, Silvia"'

1. Molecularly Imprinted Polymer Sensor Empowered by Bound States in the Continuum for Selective Trace‐Detection of TGF‐beta

Author

Zito, Gianluigi, Siciliano, Giulia, Seifalinezhad, Aida, Miranda, Bruno, Lanzio, Vittorino, Schwartzberg, Adam, Gigli, Giuseppe, Turco, Antonio, Rendina, Ivo, Mocella, Vito, Primiceri, Elisabetta, and Romano, Silvia

Subjects
Data Management and Data Science, Information and Computing Sciences, Chemical Sciences, Bioengineering, Nanotechnology, 4.1 Discovery and preclinical testing of markers and technologies, Molecularly Imprinted Polymers, Biosensing Techniques, Humans, Transforming Growth Factor beta, Molecular Imprinting, Saliva, Nanostructures, Polymers, biosensing, bound states in the continuum, cytokine, molecularly imprinted polymer
Abstract

The integration of advanced materials and photonic nanostructures can lead to enhanced biodetection capabilities, crucial in clinical scenarios and point-of-care diagnostics, where simplified strategies are essential. Herein, a molecularly imprinted polymer (MIP) photonic nanostructure is demonstrated, which selectively binding to transforming growth factor-beta (TGF-β), in which the sensing transduction is enhanced by bound states in the continuum (BICs). The MIP operating as a synthetic antibody matrix and coupled with BIC resonance, enhances the optical response to TGF-β at imprinted sites, leading to an augmented detection capability, thoroughly evaluated through spectral shift and optical lever analogue readout. The validation underscores the MIP-BIC sensor capability to detect TGF-β in spiked saliva, achieving a limit of detection of 10 fM and a resolution of 0.5 pM at physiological concentrations, with a precision of two orders of magnitude above discrimination threshold in patients. The MIP tailored selectivity is highlighted by an imprinting factor of 52, showcasing the sensor resistance to interference from other analytes. The MIP-BIC sensor architecture streamlines the detection process eliminating the need for complex sandwich immunoassays and demonstrates the potential for high-precision quantification. This positions the system as a robust tool for biomarker detection, especially in real-world diagnostic scenarios.

Published
2024

3. Hybrid plasmonic Bound State in the Continuum entering the zeptomolar biodetection range

Author

Clabassi, Elena, Balestra, Gianluca, Siciliano, Giulia, Polimeno, Laura, Tarantini, Iolena, Primiceri, Elisabetta, Tobaldi, David Maria, Cuscunà, Massimo, Quaranta, Fabio, Passaseo, Adriana, Rainer, Alberto, Romano, Silvia, Zito, Gianluigi, Gigli, Giuseppe, Tasco, Vittorianna, and Esposito, Marco

Subjects
Physics - Optics, Condensed Matter - Materials Science
Abstract

Optical Bound States in the Continuum are peculiar localized states within the continuous spectrum that are unaffected by any far-field radiation and intrinsic absorption, therefore possessing infinite mode lifetime and Q-factor. To date they have been widely studied in dielectric structures whereas their exploitation in lossy media, i.e. plasmonic nanostructures, still remains a challenge. Here, we show the emergence of a hybrid BIC state in a 2D system of silver-filled dimers, quasi-embedded in a high-index dielectric waveguide. The hybrid BIC onset is found to be highly dependent on the bare modes' spectral and spatial overlap, but particularly on the plasmonic field's intensity. By tailoring the hybridizing plasmonic/photonic fractions we select an ideal coupling regime for which the mode exhibits both, high Q-factor values and strong near-field enhancement tightly confined in the nanogap and a consequently extremely small modal volume. We demonstrate that this optical layout can be exploited in a proof-of-concept experiment for the detection of TAR DNA-binding protein 43, which outperforms the sensitivity of current label-free biosensing platforms, reaching the zeptomolar range of concentration.

Published
2024

4. Disability trajectories by progression independent of relapse activity status differ in pediatric, adult and late-onset multiple sclerosis

Author

Simone, Marta, Lucisano, Giuseppe, Guerra, Tommaso, Paolicelli, Damiano, Rocca, Maria A., Brescia Morra, Vincenzo, Patti, Francesco, Annovazzi, Pietro, Gasperini, Claudio, De Luca, Giovanna, Ferraro, Diana, Margari, Lucia, Granella, Franco, Pozzilli, Carlo, Romano, Silvia, Perini, Paola, Bergamaschi, Roberto, Coniglio, Maria Gabriella, Lus, Giacomo, Vianello, Marika, Lugaresi, Alessandra, Portaccio, Emilio, Filippi, Massimo, Amato, Maria Pia, and Iaffaldano, Pietro

Published
2024
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5. Directive giant upconversion by supercritical bound states in the continuum

Author

Schiattarella, Chiara, Romano, Silvia, Sirleto, Luigi, Mocella, Vito, Rendina, Ivo, Lanzio, Vittorino, Riminucci, Fabrizio, Schwartzberg, Adam, Cabrini, Stefano, Chen, Jiaye, Liang, Liangliang, Liu, Xiaogang, and Zito, Gianluigi

Subjects
Quantum Physics, Physical Sciences, Affordable and Clean Energy, General Science & Technology
Abstract

Photonic bound states in the continuum (BICs), embedded in the spectrum of free-space waves1,2 with diverging radiative quality factor, are topologically non-trivial dark modes in open-cavity resonators that have enabled important advances in photonics3,4. However, it is particularly challenging to achieve maximum near-field enhancement, as this requires matching radiative and non-radiative losses. Here we propose the concept of supercritical coupling, drawing inspiration from electromagnetically induced transparency in near-field coupled resonances close to the Friedrich-Wintgen condition2. Supercritical coupling occurs when the near-field coupling between dark and bright modes compensates for the negligible direct far-field coupling with the dark mode. This enables a quasi-BIC field to reach maximum enhancement imposed by non-radiative loss, even when the radiative quality factor is divergent. Our experimental design consists of a photonic-crystal nanoslab covered with upconversion nanoparticles. Near-field coupling is finely tuned at the nanostructure edge, in which a coherent upconversion luminescence enhanced by eight orders of magnitude is observed. The emission shows negligible divergence, narrow width at the microscale and controllable directivity through input focusing and polarization. This approach is relevant to various physical processes, with potential applications for light-source development, energy harvesting and photochemical catalysis.

Published
2024

8. Evaluation of drivers of treatment switch in relapsing multiple sclerosis: a study from the Italian MS Registry

Author

Iaffaldano, Pietro, Lucisano, Giuseppe, Guerra, Tommaso, Patti, Francesco, Cocco, Eleonora, De Luca, Giovanna, Brescia Morra, Vincenzo, Pozzilli, Carlo, Zaffaroni, Mauro, Ferraro, Diana, Gasperini, Claudio, Salemi, Giuseppe, Bergamaschi, Roberto, Lus, Giacomo, Inglese, Matilde, Romano, Silvia, Bellantonio, Paolo, Di Monte, Elisabetta, Maniscalco, Giorgia Teresa, Conte, Antonella, Lugaresi, Alessandra, Vianello, Marika, Torri Clerici, Valentina Liliana Adriana, Di Sapio, Alessia, Pesci, Ilaria, Granella, Franco, Totaro, Rocco, Marfia, Girolama Alessandra, Danni, Maura Chiara, Cavalla, Paola, Valentino, Paola, Aguglia, Umberto, Montepietra, Sara, Ferraro, Elisabetta, Protti, Alessandra, Spitaleri, Daniele, Avolio, Carlo, De Riz, Milena, Maimone, Davide, Cavaletti, Guido, Gazzola, Paola, Tedeschi, Gioacchino, Sessa, Maria, Rovaris, Marco, Di Palma, Franco, Gatto, Maurizia, Cargnelutti, Daniela, De Robertis̄, Francesca, Logullo, Francesco Ottavio, Rini, Augusto, Meucci, Giuseppe, Ardito, Bonaventura, Banfi, Paola, Nasuelli, Davide, Paolicelli, Damiano, Rocca, Maria Assunta, Portaccio, Emilio, Chisari, Clara Grazia, Fenu, Giuseppe, Onofrj, Marco, Carotenuto, Antonio, Ruggieri, Serena, Tortorella, Carla, Ragonese, Paolo, Nica, Mihaela, Amato, Maria Pia, Filippi, Massimo, and Trojano, Maria

Published
2024
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10. Label-free DNA biosensing by topological light confinement

Author

Zito, Gianluigi, Sanità, Gennaro, Alulema, Bryan Guilcapi, Yépez, Sofía N Lara, Lanzio, Vittorino, Riminucci, Fabrizio, Cabrini, Stefano, Moccia, Maria, Avitabile, Concetta, Lamberti, Annalisa, Mocella, Vito, Rendina, Ivo, and Romano, Silvia

Subjects
Quantum Physics, Physical Sciences, Optical Physics, Electrical and Electronic Engineering, Nanotechnology, Atomic, molecular and optical physics, Quantum physics
Abstract

Large-area and transparent all-dielectric metasurfaces sustaining photonic bound states in the continuum (BICs) provide a set of fundamental advantages for ultrasensitive biosensing. BICs bridge the gap of large effective mode volume with large experimental quality factor. Relying on the transduction mechanism of reactive sensing principle, herein, we first numerically study the potential of subwavelength confinement driven by topological decoupling from free space radiation for BIC-based biosensing. Then, we experimentally combine this capability with minimal and low-cost optical setup, applying the devised quasi-BIC resonator for PNA/DNA selective biosensing with real-time monitoring of the binding event. A sensitivity of 20 molecules per micron squared is achieved, i.e. 0.01 pg. Further enhancement can easily be envisaged, pointing out the possibility of single-molecule regime. This work aims at a precise and ultrasensitive approach for developing low-cost point-of-care tools suitable for routine disease prescreening analyses in laboratory, also adaptable to industrial production control.

Published
2021

11. Disease-modifying therapies in managing disability worsening in paediatric-onset multiple sclerosis: a longitudinal analysis of global and national registries

Author

Horakova, Dana, Prat, Alexandre, Girard, Marc, Duquette, Pierre, Boz, Cavit, Pozzilli, Carlo, Cocco, Eleonora, Gallo, Paolo, Yamout, Bassem, Khoury, Samia J., Lugaresi, Alessandra, Onofrj, Marco, Lus, Giacomo, Clerici, Valentina Torri, Maniscalco, Giorgia Teresa, Romano, Silvia, Tortorella, Carla, Valentino, Paola, Rovaris, Marco, Shaygannejad, Vahid, Ferraro, Diana, Vianello, Marika, Grammond, Pierre, Bergamaschi, Roberto, Gallo, Antonio, Cavalla, Paola, Sa, Maria Jose, Lechner-Scott, Jeannette, Pesci, Ilaria, Buzzard, Katherine, Gouider, Riadh, Mrabet, Saloua, Aguglia, Umberto, Conte, Antonella, Avolio, Carlo, Bellantonio, Paolo, John, Nevin, Cartechini, Elisabetta, De Robertis, Francesca, Ferraro, Elisabetta, Weinstock-Guttman, Bianca, Barcella, Valeria, Van der Walt, Anneke, Butzkueven, Helmut, Coniglio, Maria Gabriella, Granella, Franco, Kuhle, Jens, Marfia, Girolama Alessandra, Laureys, Guy, Van Hijfte, Liesbeth, Maimone, Davide, Gazzola, Paola, Blanco, Yolanda, Turkoglu, Recai, Montepietra, Sara, Spitaleri, Daniele, van Pesch, Vincent, Gerlach, Oliver, Prevost, Julie, Ampapa, Radek, Soysal, Aysun, Altintas, Ayse, Rini, Augusto, Solaro, Claudio, Protti, Alessandra, Foschi, Matteo, Surcinelli, Andrea, Gatto, Maurizia, Mascoli, Nerina, De Riz, Milena, Realmuto, Sabrina, Rossi, Patrizia, Totaro, Rocco, Barnett, Michael, Oh, Jiwon, Nasuelli, Davide, Ramo-Tello, Cristina, Sanchez-Menoyo, Jose Luis, Al-Harbi, Talal, Fioretti, Cristina, Bucello, Sebastiano, Cargnelutti, Daniela, Vukusic, Sandra, Sharmin, Sifat, Roos, Izanne, Malpas, Charles B, Iaffaldano, Pietro, Simone, Marta, Filippi, Massimo, Kubala Havrdova, Eva, Ozakbas, Serkan, Brescia Morra, Vincenzo, Alroughani, Raed, Zaffaroni, Mauro, Patti, Francesco, Eichau, Sara, Salemi, Giuseppe, Di Sapio, Alessia, Inglese, Matilde, Portaccio, Emilio, Trojano, Maria, Amato, Maria Pia, and Kalincik, Tomas

Published
2024
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12. Treatment modifiers across different regimens of natalizumab treatment in MS: An Italian real-world experience

Author

Ruggieri, Serena, Ianniello, Antonio, Copetti, Massimiliano, Altieri, Marta, Buscarinu, Maria Chiara, Centonze, Diego, Cortese, Antonio, De Giglio, Laura, Fantozzi, Roberta, Gasperini, Claudio, Grimaldi, Luigi M.E., Landi, Doriana, Marfia, Girolama A., Mirabella, Massimiliano, Nistri, Riccardo, Nociti, Viviana, Oddo, Oscar, Romano, Silvia, Salemi, Giuseppe, Tortorella, Carla, Pozzilli, Carlo, and Petracca, Maria

Published
2024
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13. Refractive index sensing with optical bound states in the continuum

Author

Maksimov, Dmitrii N., Gerasimov, Valeriy S., Romano, Silvia, and Polyutov, Sergey P.

Subjects
Physics - Optics
Abstract

We consider refractive index sensing with optical bounds states in the continuum (BICs) in dielectric gratings. Applying a perturbative approach we derived the differential sensitivity and the figure of merit of a sensor operating in the spectral vicinity of a BIC. Optimisation design approach for engineering an effective sensor is proposed. An analytic formula for the maximal sensitivity with an optical BIC is derived. The results are supplied with straightforward numerical simulations.

Published
2020
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14. Multiple Sclerosis

Author

Buscarinu, Maria Chiara, Pellicciari, Giulia, Romano, Silvia, Salvetti, Marco, Longhi, Elena Vittoria, and Longhi, Elena Vittoria, editor

Published
2023
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15. Riluzole in Progressive Cerebellar Ataxias

Author

Romano, Silvia, Romano, Carmela, Morena, Emanuele, Troili, Fernanda, Suppiej, Agnese, Salvetti, Marco, Ristori, Giovanni, Manto, Mario, Series Editor, Soong, Bing-wen, editor, Brice, Alexis, editor, and Pulst, Stefan M., editor

Published
2023
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16. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

Author

Cunha, Paulina, Petit, Emilien, Coutelier, Marie, Coarelli, Giulia, Mariotti, Caterina, Faber, Jennifer, Van Gaalen, Judith, Damasio, Joana, Fleszar, Zofia, Tosi, Michele, Rocca, Clarissa, De Michele, Giovanna, Minnerop, Martina, Ewenczyk, Claire, Santorelli, Filippo M., Heinzmann, Anna, Bird, Thomas, Amprosi, Matthias, Indelicato, Elisabetta, Benussi, Alberto, Charles, Perrine, Stendel, Claudia, Romano, Silvia, Scarlato, Marina, Le Ber, Isabelle, Bassi, Maria Teresa, Serrano, Mercedes, Schmitz-Hübsch, Tanja, Doss, Sarah, Van Velzen, Gijs A.J., Thomas, Quentin, Trabacca, Antonio, Ortigoza-Escobar, Juan Dario, D'Arrigo, Stefano, Timmann, Dagmar, Pantaleoni, Chiara, Martinuzzi, Andrea, Besse-Pinot, Elsa, Marsili, Luca, Cioffi, Ettore, Nicita, Francesco, Giorgetti, Alejandro, Moroni, Isabella, Romaniello, Romina, Casali, Carlo, Ponger, Penina, Casari, Giorgio, De Bot, Susanne T., Ristori, Giovanni, Blumkin, Lubov, Borroni, Barbara, Goizet, Cyril, Marelli, Cecilia, Boesch, Sylvia, Anheim, Mathieu, Filla, Alessandro, Houlden, Henry, Bertini, Enrico, Klopstock, Thomas, Synofzik, Matthis, Riant, Florence, Zanni, Ginevra, Magri, Stefania, Di Bella, Daniela, Nanetti, Lorenzo, Sequeiros, Jorge, Oliveira, Jorge, Van de Warrenburg, Bart, Schöls, Ludger, Taroni, Franco, Brice, Alexis, and Durr, Alexandra

Published
2023
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17. Observation of spin-polarized directive coupling of light at bound states in the continuum

Author

Zito, Gianluigi, Romano, Silvia, Cabrini, Stefano, Calafiore, Giuseppe, De Luca, Anna Chiara, Penzo, Erika, and Mocella, Vito

Subjects
Atomic, Molecular and Optical Physics, Physical Sciences, Optical Physics, Electrical and Electronic Engineering, Communications Technologies, Atomic, molecular and optical physics
Abstract

Spin-polarized directive coupling of light associated with the photonic quantum spin-Hall effect (QSHE) is a nanoscale phenomenon based on strong spin–orbit interaction that has recently attracted significant attention. Herein, we discuss the experimental manifestation of QSHE intrinsic in the Bloch waves associated with a bound state in the continuum (BIC) of a dielectric photonic crystal metasurface (PhCM). We show numerically that BICs in nanoscale PhCMs have photonic spin angular momentum density transverse to the orbital momentum not only at the interfaces but also inside the confining dielectric medium. Then, we experimentally demonstrate that the fundamental Bloch waves of the BIC mode, macroscopically amplified on resonance, propagate along the symmetry axes of the PhCM obeying spin-momentum locking also at normal incidence, i.e., with no symmetry breaking. This BIC-enhanced spin-directive coupling of light may enable versatile implementations of spin-optical structures, paving the way for novel photonic spin multiplatform devices.

Published
2019

18. Tuning the exponential sensitivity of a bound-state-in-continuum optical sensor.

Author

Romano, Silvia, Zito, Gianluigi, Lara Yépez, Sofía N, Cabrini, Stefano, Penzo, Erika, Coppola, Giuseppe, Rendina, Ivo, and Mocellaark, Vito

Subjects
Engineering, Electronics, Sensors and Digital Hardware, Physical Sciences, Optical Physics, Electrical and Electronic Engineering, Communications Technologies, Optics, Communications engineering, Electronics, sensors and digital hardware, Atomic, molecular and optical physics
Abstract

In this work, we investigate the evanescent field sensing mechanism provided by an all-dielectric metasurface supporting bound states in the continuum (BICs). The metasurface is based on a transparent photonic crystal with subwavelength thickness. The BIC electromagnetic field is localized along the direction normal to the photonic crystal nanoscale-thin slab (PhCS) because of a topology-induced confinement, exponentially decaying in the material to detect. On the other hand, it is totally delocalized in the PhCS plane, which favors versatile and multiplexing sensing schemes. Liquids with different refractive indices, ranging from 1.33 to 1.45, are infiltrated in a microfluidic chamber bonded to the sensing dielectric metasurface. We observe an experimental exponential sensitivity leading to differential values as large as 226 nm/RIU with excellent FOM. This behavior is explained in terms of the physical superposition of the field with the material under investigation and supported by a thorough numerical analysis. The mechanism is then translated to the case of molecular adsorption where a suitable theoretical engineering of the optical structure points out potential sensitivities as large as 4000 nm/RIU.

Published
2019

19. Quantum spin Hall effect in bound states in continuum

Author

Zito, Gianluigi, Romano, Silvia, Cabrini, Stefano, Calafiore, Giuseppe, De Luca, Anna Chiara, Penzo, Erika, and Mocella, Vito

Subjects
Quantum Physics, Physical Sciences, field enhancement, dielectric nanostructure, photonic crystal, fluorescence, Raman, sensing, bound states, physics.optics, Communications engineering, Electronics, sensors and digital hardware, Atomic, molecular and optical physics
Abstract

Moving the polarization of the incident wave along a meridian of the Poincaré sphere, experimentally we show that the coupling with the fundamental Bloch's surface waves of the mode, provide a spatially coherent, macroscopic spinmomentum locked propagation along the symmetry axes of the PhCM. This novel mechanism of light-spin manipulation enables a versatile implementation of spin-optical structures that may pave the way to novel strategies for light spin technology and photonic multiplatform implementations.

Published
2019

21. Quantum Spin-Hall Effect of Light at Bound States in the Continuum

Author

Zito, Gianluigi, Romano, Silvia, Cabrini, Stefano, Calafiore, Giuseppe, De Luca, Anna Chiara, Penzo, Erika, and Mocella, Vito

Subjects
Physics - Optics
Abstract

The discovery of the topological nature of free-space light and its quantum chiral behavior has recently raised large attention. This important scientific endeavor features spin-based integrated quantum technologies. Herein, we discuss a novel phenomenon based on a resonantly-enhanced quantum spin-Hall transport of light observed in a dielectric resonator operating near the bound-state-in-continuum (BIC) regime. The BIC mode is characterized by a transverse photonic spin angular momentum density extended on a macroscopic area. As such, the experimental excited mode in near-BIC regime generates resonant surface waves characterized by spin-momentum locking and that propagate along the symmetry axes of the structure. In addition, the generated side waves are interpreted as an abrupt nonparaxial redirection of the exciting far field light, which is responsible for the spin-to-orbital angular momentum conversion evidenced in the spin-orbit asymmetry measured in the intensity of the side waves. The experimental results are in excellent agreement with a model that combines geometric parallel transport of light polarization and spin-momentum locking. In addition, breaking the excitation symmetry leads to a total spin-directive coupling. Our results reveal the possibility of a BIC-enhanced macroscopic spin-directive coupling, a novel fundamental mechanism of light-spin manipulation that will have strong impact on emerging quantum technologies.

Published
2017

22. Optical Biosensors Based on Photonic Crystals Supporting Bound States in the Continuum.

Author

Romano, Silvia, Lamberti, Annalisa, Masullo, Mariorosario, Penzo, Erika, Cabrini, Stefano, Rendina, Ivo, and Mocella, Vito

Subjects
biosensors, bound states in the continuum, photonic crystal, protein interaction, Generic Health Relevance, Chemical Sciences, Engineering
Abstract

A novel optical label-free bio-sensing platform based on a new class of resonances supported in a photonic crystal metasurface is reported herein. Molecular binding is detected as a shift in the resonant wavelength of the bound states in the continuum of radiation modes. The new configuration is applied to the recognition of the interaction between protein p53 and its protein regulatory partner murine double minute 2 (MDM2). A detection limit of 66 nM for the protein p53 is found. The device provides an excellent interrogation stability and loss-free operation, requires minimal optical interrogation equipment and can be easily optimized to work in a wide wavelength range.

Published
2018

27. Silent Threats of the Heart: A Case Series and Narrative Review on Suicide Left Ventricle Post-Aortic Valve Replacement in Patients with Dynamic LVOT Obstruction and Aortic Stenosis.

Author

Romano, Silvia, D'Andrea, Emilio, Cozac, Dan Alexandru, Savo, Maria Teresa, Cecchetto, Antonella, Baritussio, Anna, Martini, Marika, Napodano, Massimo, Bauce, Barbara, and Pergola, Valeria

Subjects
*HEART valve prosthesis implantation, *HEART valve diseases, *AORTIC valve transplantation, *AORTIC stenosis, *MITRAL valve
Abstract

Aortic stenosis (AS) is the most prevalent valvular heart disease in Europe and North America, with transcatheter aortic valve implantation (TAVI) revolutionizing its management. Hypertrophic left ventricle (HLV) frequently coexists with AS, complicating treatment due to the associated risk of left ventricular outflow tract (LVOT) obstruction, heart failure, and sudden death. A rare but severe post-aortic valve replacement (AVR) complication, termed "suicide left ventricle" (SLV), has emerged, necessitating further study. This report synthesizes current literature on SLV, its pathophysiology, and management strategies, alongside four patient case studies. The patients aged 79–87 years, underwent AVR for symptomatic AS with HLV. Post-AVR, all experienced severe complications, including dynamicLVOT gradients, systolic anterior motion (SAM) of the mitral valve, and severe hypotension, leading to death in two cases. One patient survived following surgical aortic valve replacement (SAVR) with surgical myectomy. One patient survived after TAVI. These cases highlight the critical importance of multidisciplinary Heart Team evaluations and personalized treatment plans in managing SLV. Despite advancements in AVR, SLV remains a complex, life-threatening condition, requiring an exhaustive and multifaceted approach for optimal patient outcomes. This report offers valuable insights into SLV occurrence and management from a clinical perspective. [ABSTRACT FROM AUTHOR]

Published
2024
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28. Determination of Ethanol Content in Alcoholic Products by LF-NMR.

Author

Farine, Gianluca, Scilinguo, Maria, Calvagna, Chiara, Romano, Silvia, Polito, Marco, and Sgrò, Salvatore

Subjects
NUCLEAR magnetic resonance, ETHANOL, MOLECULAR structure, ANALYTICAL chemistry, GAS chromatography
Abstract

Nuclear magnetic resonance (NMR) is a technique used for many years by chemists for elucidation of molecular structure. Technological progress over the years has enabled this technique, making it easier to use. Thus, the LF-NMR (low-field NMR) was introduced as a side technique, characterized by low management costs and shorter analysis time than its main counterpart. The application of 1H LF-NMR for the quantification of ethyl alcohol in different alcoholic matrices is herein described, comparing the results obtained with this technique with those determined by a reference gas chromatographic method. [ABSTRACT FROM AUTHOR]

Published
2024
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31. An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review

Author

Orsini, Alessandro, primary, Santangelo, Andrea, additional, Carmignani, Alessandra, additional, Camporeale, Anna, additional, Massart, Francesco, additional, Tyutyusheva, Nina, additional, Peroni, Diego Giampietro, additional, Foiadelli, Thomas, additional, Ferretti, Alessandro, additional, Toschi, Benedetta, additional, Romano, Silvia, additional, and Bonuccelli, Alice, additional

Published
2024
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33. Exit strategies for “needle fatigue” in multiple sclerosis: a propensity score-matched comparison study

Author

Prosperini, Luca, Cortese, Antonio, Lucchini, Matteo, Boffa, Laura, Borriello, Giovanna, Buscarinu, Maria Chiara, Capone, Fioravante, Centonze, Diego, De Fino, Chiara, De Pascalis, Daniela, Fantozzi, Roberta, Ferraro, Elisabetta, Filippi, Maria, Galgani, Simonetta, Gasperini, Claudio, Haggiag, Shalom, Landi, Doriana, Marfia, Girolama, Mataluni, Giorgia, Millefiorini, Enrico, Mirabella, Massimiliano, Monteleone, Fabrizia, Nociti, Viviana, Pontecorvo, Simona, Romano, Silvia, Ruggieri, Serena, Salvetti, Marco, Tortorella, Carla, Zannino, Silvana, and Di Battista, Giancarlo

Published
2020
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36. A comparison of natalizumab and ocrelizumab on disease progression in multiple sclerosis.

Author

Iaffaldano, Pietro, Lucisano, Giuseppe, Guerra, Tommaso, Paolicelli, Damiano, Portaccio, Emilio, Inglese, Matilde, Foschi, Matteo, Patti, Francesco, Granella, Franco, Romano, Silvia, Cavalla, Paola, De Luca, Giovanna, Gallo, Paolo, Bellantonio, Paolo, Gallo, Antonio, Montepietra, Sara, Di Sapio, Alessia, Vianello, Marika, Quatrale, Rocco, and Spitaleri, Daniele

Subjects
PROPORTIONAL hazards models, NATALIZUMAB, MULTIPLE sclerosis, DISEASE progression
Abstract

Objective: No direct comparisons of the effect of natalizumab and ocrelizumab on progression independent of relapse activity (PIRA) and relapse‐associated worsening (RAW) events are currently available. We aimed to compare the risk of achieving first 6 months confirmed PIRA and RAW events and irreversible Expanded Disability Status Scale (EDSS) 4.0 and 6.0 in a cohort of naïve patients treated with natalizumab or ocrelizumab from the Italian Multiple Sclerosis Register. Methods: Patients with a first visit within 1 year from onset, treated with natalizumab or ocrelizumab, and ≥3 visits were extracted. Pairwise propensity score‐matched analyses were performed. Risk of reaching the first PIRA, RAW, and EDSS 4.0 and 6.0 events were estimated using multivariable Cox proportional hazards models. Kaplan–Meier curves were used to show cumulative probabilities of reaching outcomes. Results: In total, 770 subjects were included (natalizumab = 568; ocrelizumab = 212) and the propensity score‐matching retrieved 195 pairs. No RAW events were found in natalizumab group and only 1 was reported in ocrelizumab group. A first PIRA event was reached by 23 natalizumab and 25 ocrelizumab exposed patients; 7 natalizumab‐ and 10 ocrelizumab‐treated patients obtained an irreversible EDSS 4.0, while 13 natalizumab‐ and 15 ocrelizumab‐treated patients reached an irreversible EDSS 6.0. No differences between the two groups were found in the risk (HR, 95%CI) of reaching a first PIRA (1.04, 0.59–1.84; p = 0.88) event, an irreversible EDSS 4.0 (1.23, 0.57–2.66; p = 0.60) and 6.0 (0.93, 0.32–2.68; p = 0.89). Interpretation: Both medications strongly suppress RAW events and, in the short term, the risk of achieving PIRA events, EDSS 4.0 and 6.0 milestones is not significantly different. [ABSTRACT FROM AUTHOR]

Published
2024
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37. Stimuli-Responsive Nanocomposite Hydrogels for Oral Diseases.

Author

Conte, Raffaele, Valentino, Anna, Romano, Silvia, Margarucci, Sabrina, Petillo, Orsolina, and Calarco, Anna

Subjects
HYDROGELS, ORAL diseases, NANOCOMPOSITE materials, DRUG delivery systems, EXCIPIENTS
Abstract

Oral diseases encompassing conditions such as oral cancer, periodontitis, and endodontic infections pose significant challenges due to the oral cavity's susceptibility to pathogenic bacteria and infectious agents. Saliva, a key component of the oral environment, can compromise drug efficacy during oral disease treatment by diluting drug formulations and reducing drug-site interactions. Thus, it is imperative to develop effective drug delivery methods. Stimuli-responsive nanocomposite hydrogels offer a promising solution by adapting to changes in environmental conditions during disease states, thereby enabling targeted drug delivery. These smart drug delivery systems have the potential to enhance drug efficacy, minimize adverse reactions, reduce administration frequency, and improve patient compliance, thus facilitating a faster recovery. This review explores various types of stimuli-responsive nanocomposite hydrogels tailored for smart drug delivery, with a specific focus on their applications in managing oral diseases. [ABSTRACT FROM AUTHOR]

Published
2024
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41. Analysis of coding and non-coding transcriptome of peripheral B cells reveals an altered interferon response factor (IRF)-1 pathway in multiple sclerosis patients

Author

Annibali, Viviana, Umeton, Renato, Palermo, Antonia, Severa, Martina, Etna, Marilena Paola, Giglio, Simona, Romano, Silvia, Ferraldeschi, Michela, Buscarinu, Maria Chiara, Vecchione, Andrea, Annese, Anita, Policano, Claudia, Mechelli, Rosella, Pizzolato Umeton, Raffaella, Fornasiero, Arianna, Angelini, Daniela Francesca, Guerrera, Gisella, Battistini, Luca, Coccia, Eliana Marina, Salvetti, Marco, and Ristori, Giovanni

Published
2018
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43. A “Candidate-Interactome” Aggregate Analysis of Genome-Wide Association Data in Multiple Sclerosis

Author

Mechelli, Rosella, Umeton, Renato, Policano, Claudia, Annibali, Viviana, Coarelli, Giulia, Ricigliano, Vito AG, Vittori, Danila, Fornasiero, Arianna, Buscarinu, Maria Chiara, Romano, Silvia, Salvetti, Marco, and Ristori, Giovanni

Subjects
Brain Disorders, Infectious Diseases, Neurodegenerative, Human Genome, Prevention, Biotechnology, Genetics, Emerging Infectious Diseases, Autoimmune Disease, Multiple Sclerosis, Neurosciences, 2.2 Factors relating to the physical environment, 2.1 Biological and endogenous factors, Aetiology, Infection, Good Health and Well Being, Genome-Wide Association Study, Genotype, Humans, Protein Binding, International Multiple Sclerosis Genetics Consortium, Wellcome Trust Case Control Consortium, 2, General Science & Technology
Abstract

Though difficult, the study of gene-environment interactions in multifactorial diseases is crucial for interpreting the relevance of non-heritable factors and prevents from overlooking genetic associations with small but measurable effects. We propose a "candidate interactome" (i.e. a group of genes whose products are known to physically interact with environmental factors that may be relevant for disease pathogenesis) analysis of genome-wide association data in multiple sclerosis. We looked for statistical enrichment of associations among interactomes that, at the current state of knowledge, may be representative of gene-environment interactions of potential, uncertain or unlikely relevance for multiple sclerosis pathogenesis: Epstein-Barr virus, human immunodeficiency virus, hepatitis B virus, hepatitis C virus, cytomegalovirus, HHV8-Kaposi sarcoma, H1N1-influenza, JC virus, human innate immunity interactome for type I interferon, autoimmune regulator, vitamin D receptor, aryl hydrocarbon receptor and a panel of proteins targeted by 70 innate immune-modulating viral open reading frames from 30 viral species. Interactomes were either obtained from the literature or were manually curated. The P values of all single nucleotide polymorphism mapping to a given interactome were obtained from the last genome-wide association study of the International Multiple Sclerosis Genetics Consortium & the Wellcome Trust Case Control Consortium, 2. The interaction between genotype and Epstein Barr virus emerges as relevant for multiple sclerosis etiology. However, in line with recent data on the coexistence of common and unique strategies used by viruses to perturb the human molecular system, also other viruses have a similar potential, though probably less relevant in epidemiological terms.

Published
2013

47. Rosika Schwimmer, Feminist and Pacifist, Co-founder of the First Campaign for World Government.

Author

Romano, Silvia

Subjects
*INTERNATIONAL organization, *FEMINISM, *SOVEREIGNTY, *CORPORATE directors, *GREAT powers (International relations), *WOMEN'S rights
Abstract

Rosika Schwimmer, a feminist and pacifist, co-founded the first Campaign for World Government with Lola Maverick Lloyd in an effort to establish a democratic, non-military World Federation. Schwimmer was a leading figure in the feminist movement, advocating for gender equality and women's rights. Despite facing challenges and being labeled as an enemy during World War I, Schwimmer remained committed to her ideals of peace and world government, ultimately leaving a lasting impact on the international peace movement. [Extracted from the article]

Published
2024

48. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Author

Coleman, A, Santos, R Dar, Decolongon, J, Sturrock, A, Bardinet, E, Ret, C Jauff, Justo, D, Lehericy, S, Marelli, C, Nigaud, K, Valabrègue, R, van den Bogaard, SJA, Dumas, E M, van der Grond, J, t'Hart, EP, Jurgens, C, Witjes-Ane, M-N, Arran, N, Callaghan, J, Stopford, C, Frost, C, Jones, R, Hobbs, N, Lahiri, N, Ordidge, R, Owen, G, Pepple, T, Read, J, Say, M, Wild, E, Patel, A, Fox, N C, Gibbard, C, Malone, I, Crawford, H, Whitehead, D, Keenan, S, Cash, D M, Berna, C, Bechtel, N, Bohlen, S, Man, A Hoff, Kraus, P, Axelson, E, Wang, C, Acharya, T, Lee, S, Monaco, W, Campbell, C, Queller, S, Whitlock, K, Campbell, M, Frajman, E, Milchman, C, O'Regan, A, Labuschagne, I, Stout, J, Landwehrmeyer, B, Craufurd, D, Scahill, R, Hicks, S, Kennard, C, Johnson, H, Tobin, A, Rosas, HD, Reilmann, R, Borowsky, B, Pourchot, C, Andrews, S C, Bachoud-Lévi, Anne-Catherine, Bentivoglio, Anna Rita, Biunno, Ida, Bonelli, Raphael, Burgunder, Jean-Marc, Dunnett, Stephen, Ferreira, Joaquim, Handley, Olivia, Heiberg, Arvid, Illmann, Torsten, Landwehrmeyer, G. Bernhard, Levey, Jamie, Ramos-Arroyo, Maria A., Nielsen, Jørgen, Koivisto, Susana Pro, Päivärinta, Markku, Roos, Raymund A.C., Sebastián, A Rojo, Tabrizi, Sarah, Vandenberghe, Wim, Verellen-Dumoulin, Christine, Uhrova, Tereza, Wahlström, Jan, Zaremba, Jacek, Baake, Verena, Barth, Katrin, Garde, Monica Bascuñana, Betz, Sabrina, Bos, Reineke, Callaghan, Jenny, Come, Adrien, Guedes, Leonor Correia, Ecker, Daniel, Finisterra, Ana Maria, Fullam, Ruth, Gilling, Mette, Gustafsson, Lena, Handley, Olivia J, Hvalstedt, Carina, Held, Christine, Koppers, Kerstin, Lamanna, Claudia, Laurà, Matilde, Descals, Asunción Martínez, Martinez-Horta, Saül, Mestre, Tiago, Minster, Sara, Monza, Daniela, Mütze, Lisanne, Oehmen, Martin, Orth, Michael, Padieu, Hélène, Paterski, Laurent, Peppa, Nadia, Di Renzo, Martina, Rialland, Amandine, Røren, Niini, Šašinková, Pavla, Timewell, Erika, Townhill, Jenny, Cubillo, Patricia Trigo, da Silva, Wildson Vieira, van Walsem, Marleen R, Whalstedt, Carina, Witjes-Ané, Marie-Noelle, Witkowski, Grzegorz, Wright, Abigail, Zielonka, Daniel, Zielonka, Eugeniusz, Zinzi, Paola, Bonelli, Raphael M., Lilek, Sabine, Hecht, Karen, Herranhof, Brigitte, Holl, Anna, Kapfhammer, Hans-Peter, Koppitz, Michael, Magnet, Markus, Müller, Nicole, Otti, Daniela, Painold, Annamaria, Reisinger, Karin, Scheibl, Monika, Schöggl, Helmut, Ullah, Jasmin, Braunwarth, Eva-Maria, Brugger, Florian, Buratti, Lisa, Hametner, Eva-Maria, Hepperger, Caroline, Holas, Christiane, Hotter, Anna, Hussl, Anna, Müller, Christoph, Poewe, Werner, Seppi, Klaus, Sprenger, Fabienne, Wenning, Gregor, Boogaerts, Andrea, Calmeyn, Godelinde, Delvaux, Isabelle, Liessens, Dirk, Somers, Nele, Dupuit, Michel, Minet, Cécile, van Paemel, Dominique, Ribaï, Pascale, van Reijen, Dimphna, Klempír, Jirí, Majerová, Veronika, Roth, Jan, Stárková, Irena, Hjermind, Lena E., Jacobsen, Oda, Nielsen, Jørgen E., Larsen, Ida Unmack, Vinther-Jensen, Tua, Hiivola, Heli, Hyppönen, Hannele, Martikainen, Kirsti, Tuuha, Katri, Allain, Philippe, Bonneau, Dominique, Bost, Marie, Gohier, Bénédicte, Guérid, Marie-Anne, Olivier, Audrey, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Debruxelles, Sabrina, Duché, Charlotte, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Barthélémy, Rekha, De Bruycker, Christelle, Carette, Maryline Cabaret Anne-Sophie, Defebvre, Eric Decorte Luc, Delliaux, Marie, Delval, Arnaud, Destee, Alain, Dujardin, Kathy, Lemaire, Marie-Hélène, Manouvrier, Sylvie, Peter, Mireille, Plomhouse, Lucie, Sablonnière, Bernard, Simonin, Clémence, Thibault-Tanchou, Stéphanie, Vuillaume, Isabelle, Bellonet, Marcellin, Berrissoul, Hassan, Blin, Stéphanie, Courtin, Françoise, Duru, Cécile, Fasquel, Véronique, Godefroy, Olivier, Krystkowiak, Pierre, Mantaux, Béatrice, Roussel, Martine, Wannepain, Sandrine, Azulay, Jean-Philippe, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Mundler, Laura, Anheim, Mathieu, Julié, Celine, Boukbiza, Ouhaid Lagha, Longato, Nadine, Rudolf, Gabrielle, Tranchant, Christine, Zimmermann, Marie-Agathe, Kosinski, Christoph Michael, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johannes, Schlangen, Christiane, Werner, Cornelius J., Gelderblom, Harald, Priller, Josef, Prüß, Harald, Spruth, Eike Jakob, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Kotz, Peter, Prehn, Christian, Saft, Carsten, Lange, Herwig, Maiwald, Robert, Löhle, Matthias, Maass, Antonia, Schmidt, Simone, Bosredon, Cecile, Storch, Alexander, Wolz, Annett, Wolz, Martin, Capetian, Philipp, Lambeck, Johann, Zucker, Birgit, Boelmans, Kai, Ganos, Christos, Heinicke, Walburgis, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Schmalfeld, Jenny, Stubbe, Lars, Zittel, Simone, Diercks, Gabriele, Dressler, Dirk, Gorzolla, Heike, Schrader, Christoph, Tacik, Pawel, Ribbat, Michael, Longinus, Bernhard, Bürk, Katrin, Möller, Jens Carsten, Rissling, Ida, Mühlau, Mark, Peinemann, Alexander, Städtler, Michael, Weindl, Adolf, Winkelmann, Juliane, Ziegler, Cornelia, Bechtel, Natalie, Beckmann, Heike, Bohlen, Stefan, Hölzner, Eva, Reilmann, Ralf, Rohm, Stefanie, Rumpf, Silke, Schepers, Sigrun, Weber, Natalia, Dose, Matthias, Leythäuser, Gabriele, Marquard, Ralf, Raab, Tina, Wiedemann, Alexandra, Buck, Andrea, Connemann, Julia, Geitner, Carolin, Kesse, Andrea, Landwehrmeyer, Bernhard, Lang, Christina, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Süßmuth, Sigurd, Trautmann, Sonja, Weydt, Patrick, Cormio, Claudia, Sciruicchio, Vittorio, Serpino, Claudia, de Tommaso, Marina, Capellari, Sabina, Cortelli, Pietro, Galassi, Roberto, Rizzo, Giovanni, Poda, Roberto, Scaglione, Cesa, Bertini, Elisabetta, Ghelli, Elena, Ginestroni, Andrea, Massaro, Francesca, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Romoli, Anna Maria, Sorbi, Sandro, Abbruzzese, Giovanni, di Poggio, Monica Bandettini, Ferrandes, Giovanna, Mandich, Paola, Marchese, Roberta, Albanese, Alberto, Di Bella, Daniela, Castaldo, Anna, Di Donato, Stefano, Gellera, Cinzia, Genitrini, Silvia, Mariotti, Caterina, Nanetti, Lorenzo, Paridi, Dominga, Soliveri, Paola, Tomasello, Chiara, De Michele, Giuseppe, Di Maio, Luigi, Massarelli, Marco, Peluso, Silvio, Roca, Alessandro, Russo, Cinzia Valeria, Salvatore, Elena, Sorrentino, Pierpaolo, Amico, Enrico, Favellato, Mariagrazia, Griguoli, Annamaria, Mazzante, Irene, Petrollini, Martina, Squitieri, Ferdinando, D'Alessio, Barbara, Esposito, Chiara, Bentivoglio, Rita, Frontali, Marina, Guidubaldi, Arianna, Ialongo, Tamara, Jacopini, Gioia, Piano, Carla, Romano, Silvia, Soleti, Francesco, Spadaro, Maria, van Hout, Monique S.E., Verhoeven, Marloes E., van Vugt, Jeroen P.P., de Weert, A. Marit, Bolwijn, J.J.W., Dekker, M., Kremer, B., Leenders, K.L., van Oostrom, J.C.H., van den Bogaard, Simon J.A., Dumas, Eve M., 't Hart, Ellen P., Kremer, Berry, Verstappen, C.C.P., Aaserud, Olaf, C, Jan Frich, Wehus, Ragnhild, Bjørgo, Kathrine, Fannemel, Madeleine, Gørvell, Per F., Lorentzen, Eirin, Retterstøl, Lars, Stokke, Bodil, Bjørnevoll, Inga, Sando, Sigrid Botne, Dziadkiewicz, Artur, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Blaszcyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasinska-Myga, Barbara, Klodowska-Duda, Gabriela, Opala, Gregorz, Stompel, Daniel, Banaszkiewicz, Krzysztof, Bocwinska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Malgorzata, Krawczyk, Malgorzata, Rudzinska, Monika, Szczygiel, Elzbieta, Szczudlik, Andrzej, Wasielewska, Anna, Wójcik, Magdalena, Bryl, Anna, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempolowicz, Justyna, Gogol, Anna, Janik, Piotr, Kwiecinski, Hubert, Jamrozik, Zygmunt, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Richter, Przemyslaw, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stepniak, Iwona, Sulek, Anna, Zdzienicka, Elzbieta, Zieora-Jakutowicz, Karolina, Ferreira, Joaquim J, Coelho, Miguel, Mendes, Tiago, Valadas, Anabela, Andrade, Carlos, Gago, Miguel, Garrett, Carolina, Guerra, Maria Rosália, Herrera, Carmen Durán, Garcia, Patrocinio Moreno, Barbera, Miquel Aguilar, Guia, Dolors Badenes, Hernanz, Laura Casas, Catena, Judit López, Ferrer, Pilar Quiléz, Sebastián, Ana Rojo, Carruesco, Gemma Tome, Bas, Jordi, Busquets, Núria, Calopa, Matilde, Robert, Misericordia Floriach, Viladrich, Celia Mareca, Idiago, Jesús Miguel Ruiz, Riballo, Antonio Villa, Cubo, Esther, Polo, Cecilia Gil, Mariscal, Natividad, Rivadeneyra, Perez Jessica, Barrero, Francisco, Morales, Blas, Fenollar, María, García, Rocío García-Ramos, Ortega, Paloma, Villanueva, Clara, Alegre, Javier, Bascuñana, Mónica, Caldentey, Juan Garcia, Ventura, Marta Fatás, Ribas, Guillermo García, de Yébenes, Justo García, Moreno, José Luis López-Sendón, Frech, Fernando Alonso, Ruíz, Pedro J García, Martínez-Descals, Asunción, Guerrero, Rosa, Artiga, María José Saiz, Sánchez, Vicenta, Perea, María Fuensanta Noguera, Fortuna, Lorenza, Manzanares, Salvadora, Reinante, Gema, Torres, María Martirio Antequera, Moreau, Laura Vivancos, González González, Sonia, Guisasola, Luis Menéndez, Salvador, Carlos, Martín, Esther Suaréz San, Ramirez, Inés Legarda, Gorospe, Aranzazú, Lopera, Mónica Rodriguez, Arques, Penelope Navas, Rodríguez, María José Torres, Pastor, Barbara Vives, Gaston, Itziar, Martinez-Jaurrieta, Maria Dolores, Moreno, Jose Manuel Garcia, Lucena, Carolina Mendez, Damas, Fatima, Cortegana, Hermoso Eva Pacheco, Peña, José Chacón, Redondo, Luis, Carrillo, Fátima, Teresa Cáceres, María, Mir, Pablo, Suarez, María José Lama, Vargas-González, Laura, Bosca, Maria E., Brugada, Francisco Castera, Burguera, Juan Andres, Campos, Anabel, Vilaplana, Garcia Carmen Peiró, Berglund, Peter, Constantinescu, Radu, Fredlund, Gunnel, Høsterey-Ugander, Ulrika, Linnsand, Petra, Neleborn-Lingefjärd, Liselotte, Wentzel, Magnus, Loutfi, Ghada, Olofsson, Carina, Stattin, Eva-Lena, Westman, Laila, Wikström, Birgitta, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schüpbach, Michael, Weber Zaugg, Sabine, Hauer, Maria, Gonzenbach, Roman, Jung, Hans H., Mihaylova, Violeta, Petersen, Jens, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, Simpson, Sheila A, Summers, Fiona, Ure, Alexandra, Vaughan, Vivien, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, de Souza, Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Armstrong, Matthew, Barker, Roger A., O'Keefe, Deidre, Di Pietro, Anna, Fisher, Kate, Goodman, Anna, Hill, Susan, Kershaw, Ann, Mason, Sarah, Paterson, Nicole, Raymond, Lucy, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Clenaghan, Catherine, Hunt, Sarah, Jones, Lesley, Jones, Una, Khalil, Hanan, Owen, Michael, Price, Kathleen, Rosser, Anne, Edwards, Maureen, Ho, Carrie, Hughes, Teresa, McGill, Marie, Pearson, Pauline, Porteous, Mary, Smith, Paul, Brockie, Peter, Foster, Jillian, Johns, Nicola, McKenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Burrows, Liz, Chu, Carol, Fletcher, Amy, Gallantrae, Deena, Hamer, Stephanie, Harding, Alison, Klöppel, Stefan, Kraus, Alison, Laver, Fiona, Lewis, Monica, Longthorpe, Mandy, Markova, Ivana, Raman, Ashok, Robertson, Nicola, Silva, Mark, Thomson, Aileen, Wild, Sue, Yardumian, Pam, Evans, Carole, Gallentrae, Deena, Hobson, Emma, Jamieson, Stuart, Musgrave, Hannah, Rowett, Liz, Toscano, Jean, Bourne, Colin, Clapton, Jackie, Clayton, Carole, Dipple, Heather, Freire-Patino, Dawn, Grant, Janet, Gross, Diana, Hallam, Caroline, Middleton, Julia, Murch, Ann, Thompson, Catherine, Alusi, Sundus, Davies, Rhys, Foy, Kevin, Gerrans, Emily, Pate, Louise, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Kavalier, Fred, Laing, Hana, Lashwood, Alison, Robertson, Dene, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Bruno, Stefania, Doherty, Karen, Haider, Salman, Hensman, Davina, Lahiri, Nayana, Novak, Marianne, Patel, Aakta, Rosser, Elisabeth, Taylor, Rachel, Warner, Thomas, Wild, Edward, Arran, Natalie, Bek, Judith, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Rogers, Dawn, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iris, Verstraelen, Nichola, Westmoreland, Leann, Armstrong, Richard, Dixon, Kathryn, Nemeth, Andrea H, Siuda, Gill, Valentine, Ruth, Harrison, David, Hughes, Max, Parkinson, Andrew, Soltysiak, Beverley, Bandmann, Oliver, Bradbury, Alyson, Gill, Paul, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Kazoka, Mbombe, O'Donovan, Kirsty, Taylor, Cat, Tidswell, Katherine, Quarrell, Oliver, Lau, Puay Ngoh, Pica, Emmanul, Tan, Louis, Moss, Davina J Hensman, Pardiñas, Antonio F, Langbehn, Douglas, Lo, Kitty, Leavitt, Blair R, Roos, Raymund, Durr, Alexandra, Mead, Simon, Holmans, Peter, and Tabrizi, Sarah J

Published
2017
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50. Disentangling multiple sclerosis phenotypes through Mendelian disorders: A network approach.

Author

Bellucci, Gianmarco, Buscarinu, Maria Chiara, Reniè, Roberta, Rinaldi, Virginia, Bigi, Rachele, Mechelli, Rosella, Romano, Silvia, Salvetti, Marco, and Ristori, Giovanni

Subjects
MULTIPLE sclerosis, PHENOTYPES, RARE diseases, BIOLOGY, DRUG repositioning
Abstract

Background: The increasing knowledge about multiple sclerosis (MS) pathophysiology has reinforced the need for an improved description of disease phenotypes, connected to disease biology. Growing evidence indicates that complex diseases constitute phenotypical and genetic continuums with "simple," monogenic disorders, suggesting shared pathomechanisms. Objectives: The objective of this study was to depict a novel MS phenotypical framework leveraging shared physiopathology with Mendelian diseases and to identify phenotype-specific candidate drugs. Methods: We performed an enrichment testing of MS-associated variants with Mendelian disorders genes. We defined a "MS-Mendelian network," further analyzed to define enriched phenotypic subnetworks and biological processes. Finally, a network-based drug screening was implemented. Results: Starting from 617 MS-associated loci, we showed a significant enrichment of monogenic diseases (p < 0.001). We defined an MS-Mendelian molecular network based on 331 genes and 486 related disorders, enriched in four phenotypic classes: neurologic, immunologic, metabolic, and visual. We prioritized a total of 503 drugs, of which 27 molecules active in 3/4 phenotypical subnetworks and 140 in subnetwork pairs. Conclusion: The genetic architecture of MS contains the seeds of pathobiological multiplicities shared with immune, neurologic, metabolic and visual monogenic disorders. This result may inform future classifications of MS endophenotypes and support the development of new therapies in both MS and rare diseases. [ABSTRACT FROM AUTHOR]

Published
2024
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