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1,090 results on '"Santorelli, P."'

1. Benchmarking the design of the cryogenics system for the underground argon in DarkSide-20k

Author

Collaboration, DarkSide-20k, Acerbi, F., Adhikari, P., Agnes, P., Ahmad, I., Albergo, S., Albuquerque, I. F. M., Alexander, T., Alton, A. K., Amaudruz, P., Angiolilli, M., Aprile, E., Ardito, R., Corona, M. Atzori, Auty, D. J., Ave, M., Avetisov, I. C., Azzolini, O., Back, H. O., Balmforth, Z., Olmedo, A. Barrado, Barrillon, P., Batignani, G., Bhowmick, P., Blua, S., Bocci, V., Bonivento, W., Bottino, B., Boulay, M. G., Buchowicz, A., Bussino, S., Busto, J., Cadeddu, M., Cadoni, M., Calabrese, R., Camillo, V., Caminata, A., Canci, N., Capra, A., Caravati, M., Cárdenas-Montes, M., Cargioli, N., Carlini, M., Castellani, A., Castello, P., Cavalcante, P., Cebrian, S., Ruiz, J. Cela, Chashin, S., Chepurnov, A., Cifarelli, L., Cintas, D., Citterio, M., Cleveland, B., Coadou, Y., Cocco, V., Colaiuda, D., Vilda, E. Conde, Consiglio, L., Costa, B. S., Czubak, M., D'Aniello, M., D'Auria, S., Rolo, M. D. Da Rocha, Darbo, G., Davini, S., De Cecco, S., De Guido, G., Dellacasa, G., Derbin, A. V., Devoto, A., Di Capua, F., Di Ludovico, A., Di Noto, L., Di Stefano, P., Dias, L. K., Mairena, D. Díaz, Ding, X., Dionisi, C., Dolganov, G., Dordei, F., Dronik, V., Elersich, A., Ellingwood, E., Erjavec, T., Diaz, M. Fernandez, Ficorella, A., Fiorillo, G., Franchini, P., Franco, D., Gatti, H. Frandini, Frolov, E., Gabriele, F., Gahan, D., Galbiati, C., Galiński, G., Gallina, G., Gallus, G., Garbini, M., Abia, P. Garcia, Gawdzik, A., Gendotti, A., Ghisi, A., Giovanetti, G. K., Casanueva, V. Goicoechea, Gola, A., Grandi, L., Grauso, G., di Cortona, G. Grilli, Grobov, A., Gromov, M., Guerzoni, M., Gulino, M., Guo, C., Hackett, B. R., Hallin, A., Hamer, A., Haranczyk, M., Harrop, B., Hessel, T., Hill, S., Horikawa, S., Hu, J., Hubaut, F., Hucker, J., Hugues, T., Hungerford, E. V., Ianni, A., Ippolito, V., Jamil, A., Jillings, C., Jois, S., Kachru, P., Keloth, R., Kemmerich, N., Kemp, A., Kendziora, C. L., Kimura, M., Kish, A., Kondo, K., Korga, G., Kotsiopoulou, L., Koulosousas, S., Kubankin, A., Kunzé, P., Kuss, M., Kuźniak, M., Kuzwa, M., La Commara, M., Lai, M., Guirriec, E. Le, Leason, E., Leoni, A., Lidey, L., Lissia, M., Luzzi, L., Lychagina, O., Macfadyen, O., Machulin, I. N., Manecki, S., Manthos, I., Mapelli, L., Marasciulli, A., Mari, S. M., Mariani, C., Maricic, J., Martinez, M., Martoff, C. J., Matteucci, G., Mavrokoridis, K., McDonald, A. B., Mclaughlin, J., Merzi, S., Messina, A., Milincic, R., Minutoli, S., Mitra, A., Moharana, A., Moioli, S., Monroe, J., Moretti, E., Morrocchi, M., Mroz, T., Muratova, V. N., Murphy, M., Murra, M., Muscas, C., Musico, P., Nania, R., Nessi, M., Nieradka, G., Nikolopoulos, K., Nikoloudaki, E., Nowak, J., Olchanski, K., Oleinik, A., Oleynikov, V., Organtini, P., de Solórzano, A. Ortiz, Pallavicini, M., Pandola, L., Pantic, E., Paoloni, E., Papi, D., Pastuszak, G., Paternoster, G., Peck, A., Pegoraro, P. A., Pelczar, K., Pellegrini, L. A., Perez, R., Perotti, F., Pesudo, V., Piacentini, S. I., Pino, N., Plante, G., Pocar, A., Poehlmann, M., Pordes, S., Pralavorio, P., Price, D., Puglia, S., Bazetto, M. Queiroga, Ragusa, F., Ramachers, Y., Ramirez, A., Ravinthiran, S., Razeti, M., Renshaw, A. L., Rescigno, M., Retiere, F., Rignanese, L. P., Rivetti, A., Roberts, A., Roberts, C., Rogers, G., Romero, L., Rossi, M., Rubbia, A., Rudik, D., Sabia, M., Salomone, P., Samoylov, O., Sandford, E., Sanfilippo, S., Santone, D., Santorelli, R., Santos, E. M., Savarese, C., Scapparone, E., Schillaci, G., Schuckman II, F. G., Scioli, G., Semenov, D. A., Shalamova, V., Sheshukov, A., Simeone, M., Skensved, P., Skorokhvatov, M. D., Smirnov, O., Smirnova, T., Smith, B., Sotnikov, A., Spadoni, F., Spangenberg, M., Stefanizzi, R., Steri, A., Stornelli, V., Stracka, S., Sulis, S., Sung, A., Sunny, C., Suvorov, Y., Szelc, A. M., Taborda, O., Tartaglia, R., Taylor, A., Taylor, J., Tedesco, S., Testera, G., Thieme, K., Thompson, A., Thorpe, T. N., Tonazzo, A., Torres-Lara, S., Tricomi, A., Unzhakov, E. V., Vallivilayil, T. J., Van Uffelen, M., Velazquez-Fernandez, L., Viant, T., Viel, S., Vishneva, A., Vogelaar, R. B., Vossebeld, J., Vyas, B., Wada, M., Walczak, M. B., Wang, H., Wang, Y., Westerdale, S., Williams, L., Wojaczyński, R., Wojcik, M., Wojcik, M. M., Wright, T., Xiao, X., Xie, Y., Yang, C., Yin, J., Zabihi, A., Zakhary, P., Zani, A., Zhang, Y., Zhu, T., Zichichi, A., Zuzel, G., and Zykova, M. P.

Subjects
Physics - Instrumentation and Detectors, High Energy Physics - Experiment
Abstract

DarkSide-20k (DS-20k) is a dark matter detection experiment under construction at the Laboratori Nazionali del Gran Sasso (LNGS) in Italy. It utilises ~100 t of low radioactivity argon from an underground source (UAr) in its inner detector, with half serving as target in a dual-phase time projection chamber (TPC). The UAr cryogenics system must maintain stable thermodynamic conditions throughout the experiment's lifetime of >10 years. Continuous removal of impurities and radon from the UAr is essential for maximising signal yield and mitigating background. We are developing an efficient and powerful cryogenics system with a gas purification loop with a target circulation rate of 1000 slpm. Central to its design is a condenser operated with liquid nitrogen which is paired with a gas heat exchanger cascade, delivering a combined cooling power of >8 kW. Here we present the design choices in view of the DS-20k requirements, in particular the condenser's working principle and the cooling control, and we show test results obtained with a dedicated benchmarking platform at CERN and LNGS. We find that the thermal efficiency of the recirculation loop, defined in terms of nitrogen consumption per argon flow rate, is 95 % and the pressure in the test cryostat can be maintained within $\pm$(0.1-0.2) mbar. We further detail a 5-day cool-down procedure of the test cryostat, maintaining a cooling rate typically within -2 K/h, as required for the DS-20k inner detector. Additionally, we assess the circuit's flow resistance, and the heat transfer capabilities of two heat exchanger geometries for argon phase change, used to provide gas for recirculation. We conclude by discussing how our findings influence the finalisation of the system design, including necessary modifications to meet requirements and ongoing testing activities., Comment: 45 pages, 24 figures

Published
2024

2. Study of the semileptonic decays $\Upsilon(1S)\to B_{(c)}\ell\bar{\nu}_\ell$

Author

Tran, Chien-Thang, Ivanov, Mikhail A., Santorelli, Pietro, and Tran, Hai-Cat

Subjects
High Energy Physics - Phenomenology
Abstract

We study the exclusive semileptonic decays $\Upsilon(1S)\to B_{(c)}\ell\bar{\nu}_\ell$, where $\ell = e,\mu,\tau$. The relevant hadronic form factors are calculated using the Covariant Confined Quark Model developed previously by our group. We predict the branching fractions $\mathcal{B}(\Upsilon(1S)\to B_{(c)}\ell\bar{\nu}_\ell)$ to be of the order of $10^{-13}$ and $10^{-10}$ for the case of $B$ and $B_c$, respectively. Our predictions agree well with other theoretical calculations. We also consider the effects of possible New Physics in the case of $\Upsilon(1S)\to B_c\tau\bar{\nu}_\tau$. We show that the branching fraction of this decay can be enhanced by an order of magnitude using the constraints from the $B\to D^{(*)}\ell\bar{\nu}_\ell$ and $B_c\to J/\psi\ell \bar{\nu}_\ell$ experimental data., Comment: 15 pages, 4 figures, 5 tables, submitted to Chinese Physics C

Published
2024

3. DarkSide-20k sensitivity to light dark matter particles

Author

Collaboration, DarkSide-20k, Acerbi, F., Adhikari, P., Agnes, P., Ahmad, I., Albergo, S., Albuquerque, I. F. M., Alexander, T., Alton, A. K., Amaudruz, P., Angiolilli, M., Aprile, E., Ardito, R., Corona, M. Atzori, Auty, D. J., Ave, M., Avetisov, I. C., Azzolini, O., Back, H. O., Balmforth, Z., Olmedo, A. Barrado, Barrillon, P., Batignani, G., Bhowmick, P., Blua, S., Bocci, V., Bonivento, W., Bottino, B., Boulay, M. G., Buchowicz, A., Bussino, S., Busto, J., Cadeddu, M., Cadoni, M., Calabrese, R., Camillo, V., Caminata, A., Canci, N., Capra, A., Caravati, M., Cárdenas-Montes, M., Cargioli, N., Carlini, M., Castellani, A., Castello, P., Cavalcante, P., Cebrian, S., Ruiz, J. M. Cela, Chashin, S., Chepurnov, A., Cifarelli, L., Cintas, D., Citterio, M., Cleveland, B., Coadou, Y., Cocco, V., Colaiuda, D., Vilda, E. Conde, Consiglio, L., Costa, B. S., Czubak, M., D'Aniello, M., D'Auria, S., Rolo, M. D. Da Rocha, Darbo, G., Davini, S., De Cecco, S., De Guido, G., Dellacasa, G., Derbin, A. V., Devoto, A., Di Capua, F., Di Ludovico, A., Di Noto, L., Di Stefano, P., Dias, L. K., Mairena, D. Díaz, Ding, X., Dionisi, C., Dolganov, G., Dordei, F., Dronik, V., Elersich, A., Ellingwood, E., Erjavec, T., Diaz, M. Fernandez, Ficorella, A., Fiorillo, G., Franchini, P., Franco, D., Gatti, H. Frandini, Frolov, E., Gabriele, F., Gahan, D., Galbiati, C., Galiński, G., Gallina, G., Gallus, G., Garbini, M., Abia, P. Garcia, Gawdzik, A., Gendotti, A., Ghisi, A., Giovanetti, G. K., Casanueva, V. Goicoechea, Gola, A., Grandi, L., Grauso, G., di Cortona, G. Grilli, Grobov, A., Gromov, M., Guerzoni, M., Gulino, M., Guo, C., Hackett, B. R., Hallin, A., Hamer, A., Haranczyk, M., Harrop, B., Hessel, T., Hill, S., Horikawa, S., Hu, J., Hubaut, F., Hucker, J., Hugues, T., Hungerford, E. V., Ianni, A., Ippolito, V., Jamil, A., Jillings, C., Jois, S., Kachru, P., Keloth, R., Kemmerich, N., Kemp, A., Kendziora, C. L., Kimura, M., Kondo, K., Korga, G., Kotsiopoulou, L., Koulosousas, S., Kubankin, A., Kunzé, P., Kuss, M., Kuźniak, M., Kuzwa, M., La Commara, M., Lai, M., Guirriec, E. Le, Leason, E., Leoni, A., Lidey, L., Lissia, M., Luzzi, L., Lychagina, O., Macfadyen, O., Machulin, I. N., Manecki, S., Manthos, I., Mapelli, L., Marasciulli, A., Mari, S. M., Mariani, C., Maricic, J., Martinez, M., Martoff, C. J., Matteucci, G., Mavrokoridis, K., McDonald, A. B., Mclaughlin, J., Merzi, S., Messina, A., Milincic, R., Minutoli, S., Mitra, A., Moioli, S., Monroe, J., Moretti, E., Morrocchi, M., Mroz, T., Muratova, V. N., Murphy, M., Murra, M., Muscas, C., Musico, P., Nania, R., Nessi, M., Nieradka, G., Nikolopoulos, K., Nikoloudaki, E., Nowak, J., Olchanski, K., Oleinik, A., Oleynikov, V., Organtini, P., de Solórzano, A. Ortiz, Pallavicini, M., Pandola, L., Pantic, E., Paoloni, E., Papi, D., Pastuszak, G., Paternoster, G., Peck, A., Pegoraro, P. A., Pelczar, K., Pellegrini, L. A., Perez, R., Perotti, F., Pesudo, V., Piacentini, S. I., Pino, N., Plante, G., Pocar, A., Poehlmann, M., Pordes, S., Pralavorio, P., Price, D., Puglia, S., Bazetto, M. Queiroga, Ragusa, F., Ramachers, Y., Ramirez, A., Ravinthiran, S., Razeti, M., Renshaw, A. L., Rescigno, M., Retiere, F., Rignanese, L. P., Rivetti, A., Roberts, A., Roberts, C., Rogers, G., Romero, L., Rossi, M., Rubbia, A., Rudik, D., Sabia, M., Salomone, P., Samoylov, O., Sandford, E., Sanfilippo, S., Santone, D., Santorelli, R., Santos, E. M., Savarese, C., Scapparone, E., Schillaci, G., Schuckman II, F. G., Scioli, G., Semenov, D. A., Shalamova, V., Sheshukov, A., Simeone, M., Skensved, P., Skorokhvatov, M. D., Smirnov, O., Smirnova, T., Smith, B., Sotnikov, A., Spadoni, F., Spangenberg, M., Stefanizzi, R., Steri, A., Stornelli, V., Stracka, S., Sulis, S., Sung, A., Sunny, C., Suvorov, Y., Szelc, A. M., Taborda, O., Tartaglia, R., Taylor, A., Taylor, J., Tedesco, S., Testera, G., Thieme, K., Thompson, A., Tonazzo, A., Torres-Lara, S., Tricomi, A., Unzhakov, E. V., Vallivilayil, T. J., Van Uffelen, M., Velazquez-Fernandez, L., Viant, T., Viel, S., Vishneva, A., Vogelaar, R. B., Vossebeld, J., Vyas, B., Walczak, M. B., Wang, Y., Wang, H., Westerdale, S., Williams, L., Wojaczyński, R., Wojcik, M., Wojcik, M. M., Wright, T., Xie, Y., Yang, C., Yin, J., Zabihi, A., Zakhary, P., Zani, A., Zhang, Y., Zhu, T., Zichichi, A., Zuzel, G., and Zykova, M. P.

Subjects
High Energy Physics - Experiment, Astrophysics - Cosmology and Nongalactic Astrophysics
Abstract

The dual-phase liquid argon time projection chamber is presently one of the leading technologies to search for dark matter particles with masses below 10 GeV/c$^2$. This was demonstrated by the DarkSide-50 experiment with approximately 50 kg of low-radioactivity liquid argon as target material. The next generation experiment DarkSide-20k, currently under construction, will use 1,000 times more argon and is expected to start operation in 2027. Based on the DarkSide-50 experience, here we assess the DarkSide-20k sensitivity to models predicting light dark matter particles, including Weakly Interacting Massive Particles (WIMPs) and sub-GeV/c$^2$ particles interacting with electrons in argon atoms. With one year of data, a sensitivity improvement to dark matter interaction cross-sections by at least one order of magnitude with respect to DarkSide-50 is expected for all these models. A sensitivity to WIMP--nucleon interaction cross-sections below $1\times10^{-42}$ cm$^2$ is achievable for WIMP masses above 800 MeV/c$^2$. With 10 years exposure, the neutrino fog can be reached for WIMP masses around 5 GeV/c$^2$., Comment: submitted to Nature Communications

Published
2024

4. Relative Measurement and Extrapolation of the Scintillation Quenching Factor of $\alpha$-Particles in Liquid Argon using DEAP-3600 Data

Author

The DEAP Collaboration, Adhikari, P., Alpízar-Venegas, M., Amaudruz, P. -A., Anstey, J., Auty, D. J., Batygov, M., Beltran, B., Bina, C. E., Bonivento, W., Boulay, M. G., Bueno, J. F., Cai, B., Cárdenas-Montes, M., Choudhary, S., Cleveland, B. T., Crampton, R., Daugherty, S., DelGobbo, P., Di Stefano, P., Dolganov, G., Doria, L., Duncan, F. A., Dunford, M., Ellingwood, E., Erlandson, A., Farahani, S. S., Fatemighomi, N., Fiorillo, G., Ford, R. J., Gahan, D., Gallacher, D., Abia, P. García, Garg, S., Giampa, P., Giménez-Alcázar, A., Goeldi, D., Gorel, P., Graham, K., Hallin, A. L., Hamstra, M., Haskins, S., Hu, J., Hucker, J., Hugues, T., Ilyasov, A., Jigmeddorj, B., Jillings, C. J., Kaur, G., Yazdi, M. Khoshraftar, Kemp, A., Kuźniak, M., La Zia, F., Lai, M., Langrock, S., Lehnert, B., Levashko, N., Lissia, M., Luzzi, L., Machulin, I., Maru, A., Mason, J., McDonald, A. B., McElroy, T., McLaughlin, J. B., Mielnichuk, C., Mirasola, L., Moharana, A., Monroe, J., Murray, A., Ng, C., Oliviéro, G., Olszewski, M., Pal, S., Papi, D., Park, B., Perry, M., Pesudo, V., Pollmann, T. R., Rad, F., Rethmeier, C., Retière, F., Roszkowski, L., Santorelli, R., Schuckman II, F. G., Seth, S., Shalamova, V., Skensved, P., Smirnova, T., Sobotkiewich, K., Sonley, T., Sosiak, J., Soukup, J., Stainforth, R., Stringer, M., Tang, J., Vázquez-Jáuregui, E., Viel, S., Vyas, B., Walczak, M., Walding, J., Ward, M., Westerdale, S., and Wormington, R.

Subjects
Physics - Instrumentation and Detectors, High Energy Physics - Experiment
Abstract

The knowledge of scintillation quenching of $\alpha$-particles plays a paramount role in understanding $\alpha$-induced backgrounds and improving the sensitivity of liquid argon-based direct detection of dark matter experiments. We performed a relative measurement of scintillation quenching in the MeV energy region using radioactive isotopes ($^{222}$Rn, $^{218}$Po and $^{214}$Po isotopes) present in trace amounts in the DEAP-3600 detector and quantified the uncertainty of extrapolating the quenching factor to the low-energy region., Comment: 9 pages, 6 figures (added 1 figure, revised 3 figures), 2 tables, revised sections 3, 4, 5. Accepted in Eur. Phys. J. C

Published
2024

5. White paper on (${\alpha}$, n) neutron yield calculations

Author

Cano-Ott, D., Cebrián, S., Gromov, M., Harańczyk, M., Kish, A., Kluck, H., Kudryavtsev, V. A., Lazanu, I., Lozza, V., Luzón, G., Mendoza, E., Parvu, M., Pesudo, V., Pocar, A., Santorelli, R., Selvi, M., Westerdale, S., and Zuzel, G.

Subjects
Nuclear Experiment, High Energy Physics - Experiment, Nuclear Theory
Abstract

Understanding the radiogenic neutron production rate through the (${\alpha}$, n) reaction is essential in many fields of physics like dark matter searches, neutrino studies, nuclear astrophysics and medical physics. This white paper provides a review of the current landscape of (${\alpha}$, n) yields, neutron spectra and correlated ${\gamma}$-rays calculations, and describes the existing tools and the available cross-sections. The uncertainties that contribute to (${\alpha}$, n) yield calculations are also discussed with plans for a program to improve the accuracy of these estimates. Novel ideas to measure (${\alpha}$, n) cross-sections for a variety of materials of interest are presented. The goal of this study is to reduce the uncertainty in the expected sensitivity of next-generation physics experiments in the keV--MeV regime., Comment: 37 pages, 8 figures

Published
2024

6. A new hybrid gadolinium nanoparticles-loaded polymeric material for neutron detection in rare event searches

Author

Collaboration, DarkSide-20k, Acerbi, F., Adhikari, P., Agnes, P., Ahmad, I., Albergo, S., Albuquerque, I. F., Alexander, T., Alton, A. K., Amaudruz, P., Angiolilli, M., Aprile, E., Ardito, R., Corona, M. Atzori, Auty, D. J., Ave, M., Avetisov, I. C., Azzolini, O., Back, H. O., Balmforth, Z., Olmedo, A. Barrado, Barrillon, P., Batignani, G., Bhowmick, P., Bocci, V., Bonivento, W., Bottino, B., Boulay, M. G., Buchowicz, A., Bussino, S., Busto, J., Cadeddu, M., Cadoni, M., Calabrese, R., Camillo, V., Caminata, A., Canci, N., Capra, A., Caravati, M., Cárdenas-Montes, M., Cargioli, N., Carlini, M., Castellani, A., Castello, P., Cavalcante, P., Cavallo, D., Cebrian, S., Ruiz, J. Cela, Chashin, S., Chepurnov, A., Cifarelli, L., Cintas, D., Citterio, M., Cleveland, B., Coadou, Y., Cocco, V., Colaiuda, D., Vilda, E. Conde, Consiglio, L., Costa, B. S., Czubak, M., D'Auria, S., Rolo, M. D. Da Rocha, Darbo, G., Davini, S., De Cecco, S., De Guido, G., Dellacasa, G., Derbin, A. V., Devoto, A., Di Capua, F., Di Ludovico, A., Di Noto, L., Di Stefano, P., Dias, L. K., Mairena, D. Díaz, Ding, X., Dionisi, C., Dolganov, G., Dordei, F., Dronik, V., Elersich, A., Ellingwood, E., Erjavec, T., Diaz, M. Fernandez, Ficorella, A., Fiorillo, G., Franchini, P., Franco, D., Gatti, H. Frandini, Frolov, E., Gabriele, F., Gahan, D., Galbiati, C., Galinski, G., Gallina, G., Garbini, M., Abia, P. Garcia, Gawdzik, A., Gendotti, A., Ghisi, A., Giovanetti, G. K., Casanueva, V. Goicoechea, Gola, A., Grandi, L., Grauso, G., di Cortona, G. Grilli, Grobov, A., Gromov, M., Guerzoni, M., Gulino, M., Guo, C., Hackett, B. R., Hallin, A., Hamer, A., Haranczyk, M., Harrop, B., Hessel, T., Hill, S., Horikawa, S., Hu, J., Hubaut, F., Hucker, J., Hugues, T., Hungerford, E. V., Ianni, A., Ippolito, V., Jamil, A., Jillings, C., Keloth, R., Kemmerich, N., Kemp, A., Kendziora, C. L., Kimura, M., Kondo, K., Korga, G., Kotsiopoulou, L., Koulosousas, S., Kubankin, A., Kuss, M., Kuzniak, M., Kuzwa, M., La Commara, M., Lai, M., Guirriec, E. Le, Leason, E., Leoni, A., Lidey, L., Lissia, M., Luzzi, L., Lychagina, O., Macfadyen, O., Machulin, I. N., Manecki, S., Manthos, I., Mapelli, L., Marasciulli, A., Mari, S. M., Mariani, C., Maricic, J., Marini, A., Martinez, M., Martoff, C. J., Matteucci, G., Mavrokoridis, K., McDonald, A. B., Mclaughlin, J., Merzi, S., Messina, A., Milincic, R., Minutoli, S., Mitra, A., Moharana, A., Moioli, S., Monroe, J., Moretti, E., Morrocchi, M., Mroz, T., Muratova, V. N., Murphy, M., Murra, M., Muscas, C., Musico, P., Nania, R., Nessi, M., Nieradka, G., Nikolopoulos, K., Nikoloudaki, E., Nowak, J., Olchanski, K., Oleinik, A., Oleynikov, V., Organtini, P., de Solórzano, A. Ortiz, Pallavicini, M., Pandola, L., Pantic, E., Paoloni, E., Papi, D., Pastuszak, G., Paternoster, G., Peddis, D., Pegoraro, P. A., Pelczar, K., Pellegrini, L. A., Perez, R., Perotti, F., Pesudo, V., Piacentini, S. I., Pino, N., Plante, G., Pocar, A., Poehlmann, M., Pordes, S., Pralavorio, P., Price, D., Puglia, S., Bazetto, M. Queiroga, Ragusa, F., Ramachers, Y., Ramirez, A., Ravinthiran, S., Razeti, M., Renshaw, A. L., Rescigno, M., Retiere, F., Rignanese, L. P., Rivetti, A., Roberts, A., Roberts, C., Rogers, G., Romero, L., Rossi, M., Rubbia, A., Rudik, D., Sabia, M., Sadashivajois, S., Salomone, P., Samoylov, O., Sandford, E., Sanfilippo, S., Santone, D., Santorelli, R., Santos, E. M., Savarese, C., Scapparone, E., Schillaci, G., Schuckman II, F. G., Scioli, G., Semenov, D. A., Sheshukov, A., Simeone, M., Skensved, P., Skorokhvatov, M. D., Slimani, S., Smirnov, O., Smirnova, T., Smith, B., Sotnikov, A., Spadoni, F., Spangenberg, M., Stefanizzi, R., Steri, A., Stornelli, V., Stracka, S., Sulis, S., Sung, A., Sunny, C., Suvorov, Y., Szelc, A. M., Taborda, O., Tartaglia, R., Taylor, A., Taylor, J., Tedesco, S., Testera, G., Thieme, K., Thompson, A., Tonazzo, A., Torres-Lara, S., Tosi, S., Tricomi, A., Unzhakov, E. V., Vallivilayil, T. J., Van Uffelen, M., Velazquez-Fernandez, L., Viant, T., Vicini, S., Viel, S., Vishneva, A., Vogelaar, R. B., Vossebeld, J., Vyas, B., Wada, M., Walczak, M. B., Wang, H., Wang, Y., Westerdale, S., Williams, L., Wojaczynski, R., Wojcik, M. M., Wojcik, M., Wright, T., Xie, Y., Yang, C., Yin, J., Zabihi, A., Zakhary, P., Zani, A., Zhang, Y., Zhu, T., Zichichi, A., Zuzel, G., and Zykova, M. P.

Subjects
Physics - Instrumentation and Detectors, High Energy Physics - Experiment
Abstract

Experiments aimed at direct searches for WIMP dark matter require highly effective reduction of backgrounds and control of any residual radioactive contamination. In particular, neutrons interacting with atomic nuclei represent an important class of backgrounds due to the expected similarity of a WIMP-nucleon interaction, so that such experiments often feature a dedicated neutron detector surrounding the active target volume. In the context of the development of DarkSide-20k detector at INFN Gran Sasso National Laboratory (LNGS), several R&D projects were conceived and developed for the creation of a new hybrid material rich in both hydrogen and gadolinium nuclei to be employed as an essential element of the neutron detector. Thanks to its very high cross-section for neutron capture, gadolinium is one of the most widely used elements in neutron detectors, while the hydrogen-rich material is instrumental in efficiently moderating the neutrons. In this paper results from one of the R&Ds are presented. In this effort the new hybrid material was obtained as a poly(methyl methacrylate) (PMMA) matrix, loaded with gadolinium oxide in the form of nanoparticles. We describe its realization, including all phases of design, purification, construction, characterization, and determination of mechanical properties of the new material.

Published
2024
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7. Decay $B_c^+ \to D_{(s)}^{(*)+} \ell^+\ell^-$ within covariant confined quark model

Author

Ivanov, Mikhail A., Pandya, Jignesh N., Santorelli, Pietro, and Soni, Nakul R.

Subjects
High Energy Physics - Phenomenology
Abstract

We study the rare semileptonic decays of $B_c$ mesons within the effective field theoretical framework of covariant confined quark model. The transition form factors corresponding to $B_c^+ \to D^{(*)+}$ and $B_c^+ \to D_s^{(*)+}$ are computed in the entire $q^2$ range. Using form factors, we compute the branching fractions and compare them with the available theoretical results. We also compute various physical observables such as forward-backward asymmetry, longitudinal and transverse polarizations as well as clean angular observables.

Published
2024

8. New Physics Pathways from B Processes

Author

D'Alise, Alessandra, Fabiano, Giuseppe, Frattulillo, Domenico, Iacobacci, Davide, Sannino, Francesco, Santorelli, Pietro, and Vignaroli, Natascia

Subjects
High Energy Physics - Phenomenology, High Energy Physics - Theory
Abstract

We re-consider recent measures of $R_{K}$ and $R_{K^*}$, now compatible with the Standard Model expectations, as well as the results for the process $\text{BR}(B_s \rightarrow \mu^+ \mu^-)$ alongside earlier determinations of $R_{D^{(\ast)}}$ and $\text{BR}(B_c \rightarrow \tau \nu)$. We provide analytic constraints on the associated Wilson coefficients in both the $b \to s$ and the $b \to c$ sectors. These allow us to estimate the scale of potential New Physics for generic extensions of the Standard Model. We then use the results to constrain the leptoquark landscape., Comment: 39 pages, 5 figures

Published
2024

13. Pseudodominance in RFC1-Spectrum Disorder

Author

Falcone, Grazia Maria Igea, Tessa, Alessandra, Arena, Ignazio Giuseppe, Barghigiani, Melissa, Migliorato, Alba, Incensi, Alex, Rodolico, Carmelo, Donadio, Vincenzo, Santorelli, Filippo Maria, and Musumeci, Olimpia

Published
2024
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15. Domestic Violence in Pregnant Trauma Patients: A Multicenter Analysis

Author

Alvarez, Claudia, Nahmias, Jeffry, Lucas, Alexa N., Fierro, Nicole, Dhillon, Navpreet K., Ley, Eric J., Smith, Jennifer, Burruss, Sigrid, Dahan, Alden, Johnson, Arianne, Ganske, William, Biffl, Walter L., Bayat, Dunya, Castelo, Matthew, Wintz, Diane, Zheng, Dennis J., Tillou, Areti, Coimbra, Raul, Tuli, Rahul, Santorelli, Jarrett E., Emigh, Brent, Schellenberg, Morgan, Inaba, Kenji, Duncan, Thomas K., Diaz, Graal, Tay-Lasso, Erika, Aryan, Negaar, Zezoff, Danielle C., and Grigorian, Areg

Published
2024
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17. Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort

Author

Satolli, Sara, Rossi, Salvatore, Vegezzi, Elisa, Pellerin, David, Manca, Maria Laura, Barghigiani, Melissa, Battisti, Carla, Bilancieri, Giusi, Bruno, Giorgia, Capacci, Elena, Casali, Carlo, Ceravolo, Roberto, Cocozza, Sirio, Cotti Piccinelli, Stefano, Criscuolo, Chiara, Danzi, Matt C., De Micco, Rosa, De Michele, Giuseppe, Dicaire, Marie-Josée, Falcone, Grazia Maria Igea, Fancellu, Roberto, Ferchichi, Yasmine, Ferrari, Camilla, Filla, Alessandro, Fini, Nicola, Govoni, Alessandra, Lo Vecchio, Filomena, Malandrini, Alessandro, Mignarri, Andrea, Musumeci, Olimpia, Nesti, Claudia, Pappatà, Sabina, Pellecchia, Maria Teresa, Perna, Alessia, Petrucci, Antonio, Pomponi, Maria Grazia, Ravenni, Roberta, Ricca, Ivana, Rufa, Alessandra, Tabolacci, Elisabetta, Tessa, Alessandra, Tessitore, Alessandro, Zuchner, Stephan, Silvestri, Gabriella, Cortese, Andrea, Brais, Bernard, and Santorelli, Filippo M.

Published
2024
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18. An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study

Author

Scaravilli, Alessandra, Gabusi, Ilaria, Mari, Gaia, Battocchio, Matteo, Bosticardo, Sara, Schiavi, Simona, Bender, Benjamin, Kessler, Christoph, Brais, Bernard, La Piana, Roberta, van de Warrenburg, Bart P., Cosottini, Mirco, Timmann, Dagmar, Daducci, Alessandro, Schüle, Rebecca, Synofzik, Matthis, Santorelli, Filippo Maria, and Cocozza, Sirio

Published
2024
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22. Radiative decays \$D^*_{(s)}\to D_{(s)}\gamma$ in covariant confined quark model

Author

Tran, Chien-Thang, Ivanov, Mikhail A., Santorelli, Pietro, and Vo, Quang-Chau

Subjects
High Energy Physics - Phenomenology, High Energy Physics - Experiment
Abstract

Radiative decays $D^*_{(s)}\to D_{(s)}\gamma$ are revisited in light of new experimental data from the \textit{BABAR} and BESIII collaborations. The radiative couplings $g_{D^*D\gamma}$ encoding nonperturbative QCD effects are calculated in the framework of the covariant confined quark model developed by us. We compare our results with other theoretical studies and experimental data. The couplings (in $\textrm{GeV}^{-1}$) $|g_{D^{*+}D^+\gamma}| = 0.45(9)$ and $|g_{D^{*0}D^0\gamma}| = 1.72(34)$ calculated in our model agree with the corresponding experimental data $|g_{D^{*+}D^+\gamma}|=0.47(7)$ and $|g_{D^{*0}D^0\gamma}|=1.77(16)$. The most interesting case is the decay $D^*_s\to D_s\gamma$, for which a recent prediction based on light-cone sum rules at next-to-leading order $|g_{D^*_s D_s\gamma}|=0.60(19)$ deviates from the first (and only to date) lattice QCD result $|g_{D^*_s D_s\gamma}|=0.11(2)$ at nearly $3\sigma$. Our calculation yields $|g_{D^*_s D_s\gamma}|=0.29(6)$, which falls somehow between the two mentioned results, although it is larger than those predicted in other studies using quark models or QCD sum rules., Comment: 27 pages, 5 figures, 7 tables, fix typos, add references, and match with journal version

Published
2023
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23. Significant variation in computed tomography imaging of pregnant trauma patients: a retrospective multicenter study.

Author

Tay-Lasso, Erika, Zezoff, Danielle, Fierro, Nicole, Dhillon, Navpreet, Ley, Eric, Smith, Jennifer, Burruss, Sigrid, Dahan, Alden, Johnson, Arianne, Ganske, William, Biffl, Walter, Bayat, Dunya, Castelo, Matthew, Wintz, Diane, Schaffer, Kathryn, Zheng, Dennis, Tillou, Areti, Coimbra, Raul, Tuli, Rahul, Santorelli, Jarrett, Emigh, Brent, Schellenberg, Morgan, Inaba, Kenji, Duncan, Thomas, Diaz, Graal, Kirby, Katharine, Nahmias, Jeffry, and Lucas, Alexa

Subjects
Computed tomography, Fetus radiation, Imaging, Pregnancy, Pregnant trauma, Adult, Female, Pregnancy, Humans, Adolescent, Retrospective Studies, Tomography, X-Ray Computed, Radiation Exposure, Thorax, Trauma Centers, Wounds, Nonpenetrating
Abstract

PURPOSE: Following motor vehicle collisions (MVCs), patients often undergo extensive computed tomography (CT) imaging. However, pregnant trauma patients (PTPs) represent a unique population where the risk of fetal radiation may supersede the benefits of liberal CT imaging. This study sought to evaluate imaging practices for PTPs, hypothesizing variability in CT imaging among trauma centers. If demonstrated, this might suggest the need to develop specific guidelines to standardize practice. METHODS: A multicenter retrospective study (2016-2021) was performed at 12 Level-I/II trauma centers. Adult (≥18 years old) PTPs involved in MVCs were included, with no patients excluded. The primary outcome was the frequency of CT. Chi-square tests were used to compare categorical variables, and ANOVA was used to compare the means of normally distributed continuous variables. RESULTS: A total of 729 PTPs sustained MVCs (73% at high speed of ≥ 25 miles per hour). Most patients were mildly injured but a small variation of injury severity score (range 1.1-4.6, p < 0.001) among centers was observed. There was a variation of imaging rates for CT head (range 11.8-62.5%, p < 0.001), cervical spine (11.8-75%, p < 0.001), chest (4.4-50.2%, p < 0.001), and abdomen/pelvis (0-57.3%, p < 0.001). In high-speed MVCs, there was variation for CT head (12.5-64.3%, p < 0.001), cervical spine (16.7-75%, p < 0.001), chest (5.9-83.3%, p < 0.001), and abdomen/pelvis (0-60%, p < 0.001). There was no difference in mortality (0-2.9%, p =0.19). CONCLUSION: Significant variability of CT imaging in PTPs after MVCs was demonstrated across 12 trauma centers, supporting the need for standardization of CT imaging for PTPs to reduce unnecessary radiation exposure while ensuring optimal injury identification is achieved.

Published
2024

24. From across the globe - traumatic injuries are an international concern at the US-Mexico border wall.

Author

Lagan, Sarah, Haines, Laura, Waters, Gabriella, Santorelli, Jarrett, Berndtson, Allison, Doucet, Jay, Costantini, Todd, and Adams, Laura

Subjects
Accidental Falls, Geography, Global Burden Of Disease, Healthcare disparities
Abstract

INTRODUCTION: Socio-economic and political events of recent years have caused a significant increase in immigrants attempting to illegally cross the United States (US)-Mexico border. While a 30-foot border wall separates the US and Mexico, immigrants from around the world have used this location as their point of entry to the US. These border crossings have led to a dramatic increase in major trauma resulting in increased inpatient resource utilization and the need for comprehensive hospital services. The aim of this study was to describe the nationality of injured immigrants admitted to a Trauma Center serving a segment of the US-Mexico border wall and to report their ultimate destinations after discharge. METHODS: We performed a retrospective review of patients admitted to an academic, Level 1 Trauma Center after injury at the US-Mexico border wall from 2021 to 2022. Demographic information was obtained from the trauma registry. The electronic medical record was searched to identify each patients self-reported country of origin. Patients nationality was then stratified by region of the world to understand geographic representation of border injury admissions. RESULTS: We identified 597 patients injured while crossing the US-Mexico border wall representing 38 different countries. The mean age of patients was 32.2±10.4 years and 446 (75%) were male. Most patients (405, 67.8%) were Mexican, followed by 23 (3.9%) patients from Peru, 17 (2.8%) patients from India, 14 (2.3%) patients from El Salvador, 13 (2.2%) patients from Cuba and 12 (2.0%) patients from Jamaica. When considering regions of the world other than Mexico, patients were most commonly from Africa, South America and Central America. CONCLUSION: The increased volume of trauma associated with the US-Mexico border wall is a humanitarian and health crisis.(1) The diverse national origin of patients admitted after injury from border wall falls has shed new light on the social and interpreter services needed to care for these border injury patients and the challenges that exist in their post-discharge care.

Published
2024

25. Predictors of direct oral anticoagulant concentrations in the trauma population.

Author

Perkins, Louis, Adams, Laura, Lerner, Dmitri, Santorelli, Jarrett, Smith, Alan, and Kobayashi, Leslie

Subjects
Anticoagulants, blood coagulation tests, critical care
Abstract

INTRODUCTION: Direct oral anticoagulant (DOAC) use is becoming more prevalent in patients presenting after trauma. We sought to identify the prevalence and predictors of subtherapeutic and therapeutic DOAC concentrations and hypothesized that increased anti-Xa levels would correlate with increased risk of bleeding and other poor outcomes. METHODS: A retrospective cohort study of all trauma patients on apixaban or rivaroxaban admitted to a level 1 trauma center between January 2015 and July 2021 was performed. Patients were excluded if they did not have a DOAC-specific anti-Xa level at presentation. Therapeutic levels were defined as an anti-Xa of 50 ng/mL to 250 ng/mL for rivaroxaban and 75 ng/mL to 250 ng/mL for apixaban. Linear regression was used to identify correlations between study variables and anti-Xa level, and binomial logistic regression was used to test the association of anti-Xa level with outcomes. RESULTS: There were 364 trauma patients admitted during the study period who were documented to be on apixaban or rivaroxaban. Of these, 245 patients had anti-Xa levels measured at admission. The population was 53% woman, with median age of 78 years, and median Injury Severity Score of 5. In total, 39% of patients had therapeutic and 20% had supratherapeutic anti-Xa levels. Female sex, increased age, decreased height and weight, and lower estimated creatinine clearance were associated with higher anti-Xa levels at admission. There was no correlation between anti-Xa level and the need for transfusion or reversal agent administration, admission diagnosis of intracranial hemorrhage (ICH), progression of ICH, hospital length of stay, or mortality. CONCLUSIONS: Anti-Xa levels in trauma patients on DOACs vary widely; female patients who are older, smaller, and have decreased kidney function present with higher DOAC-specific anti-Xa levels after trauma. We were unable to detect an association between anti-Xa levels and clinical outcomes. LEVEL OF EVIDENCE: III-Prognostic and Epidemiological.

Published
2024

27. Directionality of nuclear recoils in a liquid argon time projection chamber

Author

Collaboration, The DarkSide-20k, Agnes, P., Ahmad, I., Albergo, S., Albuquerque, I. F. M., Alexander, T., Alton, A. K., Amaudruz, P., Corona, M. Atzori, Ave, M., Avetisov, I. Ch., Azzolini, O., Back, H. O., Balmforth, Z., Barrado-Olmedo, A., Barrillon, P., Basco, A., Batignani, G., Bocci, V., Bonivento, W. M., Bottino, B., Boulay, M. G., Busto, J., Cadeddu, M., Caminata, A., Canci, N., Cappello, G., Capra, A., Caprioli, S., Caravati, M., Cargioli, N., Carlini, M., Castello, P., Cataudella, V., Cavalcante, P., Cavuoti, S., Cebrian, S., Ruiz, J. M. Cela, Chashin, S., Chepurnov, A., Chyhyrynets, E., Cifarelli, L., Cintas, D., Citterio, M., Cleveland, B., Cocco, V., Vilda, E. Conde, Consiglio, L., Copello, S., Covone, G., Czubak, M., D'Aniello, M., D'Auria, S., Rolo, M. D. Da Rocha, Davini, S., de Candia, A., De Cecco, S., De Gruttola, D., De Filippis, G., Dell'Aquila, D., De Pasquale, S., De Rosa, G., Dellacasa, G., Derbin, A. V., Devoto, A., Di Capua, F., Di Noto, L., Dionisi, C., Di Stefano, P., Dolganov, G., Dordei, F., Elersich, A., Ellingwood, E., Erjavec, T., Diaz, M. Fernandez, Fiorillo, G., Franchini, P., Franco, D., Funicello, N., Gabriele, F., Gahan, D., Galbiati, C., Gallina, G., Gallus, G., Garbini, M., Abia, P. Garcia, Gendotti, A., Ghiano, C., Giganti, C., Giovanetti, G. K., Casanueva, V. Goicoechea, Gola, A., Grauso, G., di Cortona, G. Grilli, Grobov, A., Gromov, M., Guan, M., Guerzoni, M., Gulino, M., Guo, C., Hackett, B. R., Hallin, A. L., Hamer, A., Haranczyk, M., Hessel, T., Hill, S., Horikawa, S., Hubaut, F., Hucker, J., Hugues, T., Ianni, An., Ippolito, V., Jillings, C., Jois, S., Kachru, P., Kemmerich, N., Kemp, A. A., Kendziora, C. L., Kimura, M., Kochanek, I., Kondo, K., Korga, G., Koulosousas, S., Kubankin, A., Kuss, M., Kuzniak, M., La Commara, M., Lai, M., Guirriec, E. Le, Leason, E., Leoni, A., Li, X., Lidey, L., Lissia, M., Luzzi, L., Lychagina, O., Macfadyen, O., Machulin, I. N., Manecki, S., Manthos, I., Mapelli, L., Margotti, A., Marik, S. M., Mariani, C., Maricic, J., Marini, A., Martínez, M., Martoff, C. J., Matteucci, G., Mavrokoridis, K., McDonald, A. B., Messina, A., Milincic, R., Mitra, A., Moharana, A., Monroe, J., Moretti, E., Morrocchi, M., Mróz, T., Muratova, V. N., Muscas, C., Musico, P., Nania, R., Nessi, M., Nieradka, G., Nikolopoulos, K., Nowak, J., Olchansky, K., Oleinik, A., Oleynikov, V., Organtini, P., de Solórzano, A. Ortiz, Pagani, L., Pallavicini, M., Pandola, L., Pantic, E., Paoloni, E., Paternoster, G., Pegoraro, P. A., Pelczar, K., Pesudo, V., Piacentini, S., Pino, N., Pocar, A., Poehlmann, D. M., Pordes, S., Pralavorio, P., Price, D., Ragusa, F., Ramachers, Y., Razeti, M., Renshaw, A. L., Rescigno, M., Retiere, F., Rignanese, L. P., Ripoli, C., Rivetti, A., Roberts, A., Roberts, C., Rode, J., Rogers, G., Romero, L., Rossi, M., Rubbia, A., Sabia, M. A., Salomone, P., Sandford, E., Sanfilippo, S., Santone, D., Santorelli, R., Savarese, C., Scapparone, E., Schillaci, G., Schuckman II, F. G., Scioli, G., Simeone, M., Skensved, P., Skorokhvatov, M. D., Smirnov, O., Smirnova, T., Smith, B., Sosa, A., Spadoni, F., Spangenberg, M., Stefanizzi, R., Steri, A., Stornelli, V., Stracka, S., Stringer, M., Sulis, S., Sung, A., Suvorov, Y., Szelc, A. M., Tartaglia, R., Taylor, A., Taylor, J., Tedesco, S., Testera, G., Thieme, K., Thorpe, T. N., Tonazzo, A., Tricomi, A., Unzhakov, E. V., John, T. Vallivilayil, Van Uffelen, M., Viant, T., Viel, S., Vogelaar, R. B., Vossebeld, J., Wada, M., Walczak, M. B., Wang, H., Wang, Y., Westerdale, S., Williams, L., Wingerter-Seez, I., Wojaczynski, R., Wojcik, Ma. M., Wright, T., Xie, Y., Yang, C., Zabihi, A., Zakhary, P., Zani, A., Zichichi, A., Zuzel, G., and Zykova, M. P.

Subjects
Physics - Instrumentation and Detectors
Abstract

The direct search for dark matter in the form of weakly interacting massive particles (WIMP) is performed by detecting nuclear recoils (NR) produced in a target material from the WIMP elastic scattering. A promising experimental strategy for direct dark matter search employs argon dual-phase time projection chambers (TPC). One of the advantages of the TPC is the capability to detect both the scintillation and charge signals produced by NRs. Furthermore, the existence of a drift electric field in the TPC breaks the rotational symmetry: the angle between the drift field and the momentum of the recoiling nucleus can potentially affect the charge recombination probability in liquid argon and then the relative balance between the two signal channels. This fact could make the detector sensitive to the directionality of the WIMP-induced signal, enabling unmistakable annual and daily modulation signatures for future searches aiming for discovery. The Recoil Directionality (ReD) experiment was designed to probe for such directional sensitivity. The TPC of ReD was irradiated with neutrons at the INFN Laboratori Nazionali del Sud, and data were taken with 72 keV NRs of known recoil directions. The direction-dependent liquid argon charge recombination model by Cataudella et al. was adopted and a likelihood statistical analysis was performed, which gave no indications of significant dependence of the detector response to the recoil direction. The aspect ratio R of the initial ionization cloud is estimated to be 1.037 +/- 0.027 and the upper limit is R < 1.072 with 90% confidence level, Comment: 20 pages, 10 figures, submitted to Eur. Phys. J. C

Published
2023

28. Prediction of various observables for $B_s^0 \to D_s^{(*)-}\ell^+\nu_\ell$ within covariant confined quark model

Author

Pandya, J. N., Santorelli, P., and Soni, N. R.

Subjects
High Energy Physics - Phenomenology
Abstract

In 2020, the LHCb collaboration reported the exclusive branching fractions for the channels $B_s^0 \to D_s^{(*)-}\mu^+\nu_\mu$ for the very first time. In view of these observations, we have recently reported the form factors and branching fraction computations for these channels employing the covariant confined quark model. As different other channels corresponding to $b \to c \ell \nu_\ell$ have provided the hint for New Physics, the analysis of observables such as forward-backward asymmetry, longitudinal and transverse polarizations across the lepton flavours can serve as one of the important probes for the search for possible New Physics. In present work, we compute these observables for all the lepton flavours and compare our predictions with the other theoretical approaches., Comment: Contribution to Frontiers in Particle Physics 2023

Published
2023
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29. Correction to: Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort

Author

Satolli, Sara, Rossi, Salvatore, Vegezzi, Elisa, Pellerin, David, Manca, Maria Laura, Barghigiani, Melissa, Battisti, Carla, Bilancieri, Giusi, Bruno, Giorgia, Capacci, Elena, Casali, Carlo, Ceravolo, Roberto, Cocozza, Sirio, Cotti Piccinelli, Stefano, Criscuolo, Chiara, Danzi, Matt C., De Micco, Rosa, De Michele, Giuseppe, Dicaire, Marie-Josée, Falcone, Grazia Maria Igea, Fancellu, Roberto, Ferchichi, Yasmine, Ferrari, Camilla, Filla, Alessandro, Fini, Nicola, Govoni, Alessandra, Lo Vecchio, Filomena, Malandrini, Alessandro, Mignarri, Andrea, Musumeci, Olimpia, Nesti, Claudia, Pappatà, Sabina, Pellecchia, Maria Teresa, Perna, Alessia, Petrucci, Antonio, Pomponi, Maria Grazia, Ravenni, Roberta, Ricca, Ivana, Rufa, Alessandra, Tabolacci, Elisabetta, Tessa, Alessandra, Tessitore, Alessandro, Zuchner, Stephan, Silvestri, Gabriella, Cortese, Andrea, Brais, Bernard, and Santorelli, Filippo M.

Published
2024
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30. Analysis of DNA methylation at birth and in childhood reveals changes associated with season of birth and latitude.

Author

Rzehak, Peter, Grote, Veit, Langhendries, Jean-Paul, Verduci, Elvira, Ferre, Natalia, Gruszfeld, Darek, Gao, Lu, Guan, Weihua, Zeng, Xuehuo, Schisterman, Enrique, Dou, John, Bakulski, Kelly, Feinberg, Jason, Soomro, Munawar, Pesce, Giancarlo, Baiz, Nour, Isaevska, Elena, Plusquin, Michelle, Vafeiadi, Marina, Roumeliotaki, Theano, Langie, Sabine, Standaert, Arnout, Allard, Catherine, Perron, Patrice, Bouchard, Luigi, van Meel, Evelien, Felix, Janine, Jaddoe, Vincent, Yousefi, Paul, Ramlau-Hansen, Cecilia, Relton, Caroline, Tobi, Elmar, Starling, Anne, Yang, Ivana, Llambrich, Maria, Santorelli, Gillian, Lepeule, Johanna, Salas, Lucas, Bustamante, Mariona, Ewart, Susan, Zhang, Hongmei, Karmaus, Wilfried, Röder, Stefan, Zenclussen, Ana, Jin, Jianping, Nystad, Wenche, Page, Christian, Magnus, Maria, Jima, Dereje, Hoyo, Cathrine, Maguire, Rachel, Kvist, Tuomas, Czamara, Darina, Räikkönen, Katri, Gong, Tong, Ullemar, Vilhelmina, Rifas-Shiman, Sheryl, Oken, Emily, Almqvist, Catarina, Karlsson, Robert, Lahti, Jari, Murphy, Susan, Håberg, Siri, London, Stephanie, Herberth, Gunda, Kadalayil, Latha, Alam, Md, White, Cory, Ghantous, Akram, Walton, Esther, Gruzieva, Olena, Merid, Simon, Kumar, Ashish, Roy, Ritu, Solomon, Olivia, Huen, Karen, Arshad, Hasan, Sunyer, Jordi, Grazuleviciene, Regina, Dabelea, Dana, Steegers-Theunissen, Régine, Nohr, Ellen, Sørensen, Thorkild, Duijts, Liesbeth, Hivert, Marie-France, Nelen, Vera, Popovic, Maja, Kogevinas, Manolis, Nawrot, Tim, Herceg, Zdenko, Annesi-Maesano, Isabella, Fallin, M, Yeung, Edwina, Breton, Carrie, Koletzko, Berthold, Wiemels, Joseph, Melén, Erik, Sharp, Gemma, Silver, Matt, and Rezwan, Faisal

Subjects
Birth season, DNA methylation, Differentially methylated regions (DMR), Latitude, Meta-analysis, PACE, Child, Child, Preschool, Humans, Infant, Infant, Newborn, Asthma, Carcinogenesis, DNA Methylation, Inflammation, Seasons
Abstract

BACKGROUND: Seasonal variations in environmental exposures at birth or during gestation are associated with numerous adult traits and health outcomes later in life. Whether DNA methylation (DNAm) plays a role in the molecular mechanisms underlying the associations between birth season and lifelong phenotypes remains unclear. METHODS: We carried out epigenome-wide meta-analyses within the Pregnancy And Childhood Epigenetic Consortium to identify associations of DNAm with birth season, both at differentially methylated probes (DMPs) and regions (DMRs). Associations were examined at two time points: at birth (21 cohorts, N = 9358) and in children aged 1-11 years (12 cohorts, N = 3610). We conducted meta-analyses to assess the impact of latitude on birth season-specific associations at both time points. RESULTS: We identified associations between birth season and DNAm (False Discovery Rate-adjusted p values

Published
2023

37. Outcomes of severely injured pregnant trauma patients: a multicenter analysis

Author

Awad, Kyrillos G., Nahmias, Jeffry, Aryan, Negaar, Lucas, Alexa N., Fierro, Nicole, Dhillon, Navpreet K., Ley, Eric J., Smith, Jennifer, Burruss, Sigrid, Dahan, Alden, Johnson, Arianne, Ganske, William, Biffl, Walter L., Bayat, Dunya, Castelo, Matthew, Wintz, Diane, Schaffer, Kathryn B., Zheng, Dennis J., Tillou, Areti, Coimbra, Raul, Tuli, Rahul, Santorelli, Jarrett E., Emigh, Brent, Schellenberg, Morgan, Inaba, Kenji, Duncan, Thomas K., Diaz, Graal, Tay-Lasso, Erika, Zezoff, Danielle C., and Grigorian, Areg

Published
2024
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39. Atmospheric Neutrino Octant from Flavour Symmetry

Author

Corianò, Claudio, Frampton, Paul H., and Santorelli, Pietro

Subjects
High Energy Physics - Phenomenology
Abstract

The binary tetrahedral group ($T^{'}$) has provided the most successful flavour symmetry in understanding simultaneously the three mixing angles both for quarks in the CKM matrix and for neutrinos in the PMNS matrix. One prediction, invariant under leptonic CP violation, relates the atmospheric and reactor neutrino mixings $\theta_{23}$ and $\theta_{13}$ respectively. We study sedulously this relation using the latest neutrino data. It is natural to focus on the frustrating experimental octant ambiguity of $\theta_{23}$. We conclude that the flavour symmetry requires that $\theta_{23}$ is in the second octant $\theta > 45^0$, not in the first one $\theta_{23}<45^0$, and eagerly await experimental confirmation of this prediction., Comment: 6 pages LaTeX

Published
2023

40. Commissioning of miniBELEN-10A, a moderated neutron counter with a flat efficiency for thick-target neutron yields measurements

Author

Mont-Geli, N, Tarifeño-Saldivia, A, Fraile, L M, Viñals, S, Perea, A, Pallàs, M, Cortés, G, Garcia, G, Nácher, E, Tain, J L, Alcayne, V, Alonso-Sañudo, O, Algora, A, Balibrea-Correa, J, Benito, J, Borge, M J G, Briz, J A, Calviño, F, Cano-Ott, D, De Blas, A, Domingo-Pardo, C, Fernández, B, Garcia, R, Gómez-Camacho, J, González-Romero, E M, Guerrero, C, Lerendegui-Marco, J, Llanos, M, Martínez, T, Martínez-Nouvilas, V, Mendoza, E, Murias, J R, Orrigo, S E A, de Rada, A Pérez, Pesudo, V, Plaza, J, Quesada, J M, Sánchez, A, Sánchez-Tembleque, V, Santorelli, R, Tengblad, O, Udías, J M, and Villamarín, D

Subjects
Physics - Instrumentation and Detectors, Nuclear Experiment
Abstract

miniBELEN-10A is a modular and transportable moderated neutron counter with a nearly flat detection efficiency up to 8 MeV. The detector was designed to carry out measurements of (alpha, n) reactions in the context of the Measurement of Alpha Neutron Yields (MANY) project. In this work we present the results of the commissioning of miniBELEN-10A using the relatively well-known thick-target neutron yields from 27Al(alpha, n)30P.

Published
2023

41. miniBELEN: a modular neutron counter for (alpha,n) reactions

Author

Mont-Geli, N, Tarifeño-Saldivia, A, Fraile, L M, Viñals, S, Perea, A, Pallàs, M, Cortés, G, Nácher, E, Tain, J L, Alcayne, V, Algora, A, Balibrea-Correa, J, Benito, J, Borge, M J G, Briz, J A, Calviño, F, Cano-Ott, D, De Blas, A, Domingo-Pardo, C, Fernández, B, Garcia, R, García, G, Gómez-Camacho, J, González-Romero, E M, Guerrero, C, Lerendegui-Marco, J, Llanos, M, Martínez, T, Mendoza, E, Murias, J R, Orrigo, S E A, de Rada, A Pérez, Pesudo, V, Plaza, J, Quesada, J M, Sánchez, A, Sánchez-Tembleque, V, Santorelli, R, Tengblad, O, Udías, J M, and Villamarín, D

Subjects
Physics - Instrumentation and Detectors, Nuclear Experiment
Abstract

miniBELEN is a modular and transportable neutron moderated counter with a nearly flat neutron detection efficiency up to 10 MeV. Modularity implies that the moderator can be reassembled in different ways in order to obtain different types of response. The detector has been developed in the context of the Measurement of Alpha Neutron Yields (MANY) collaboration, which is a scientific effort aiming to carry out measurements of (alpha,n) production yields, reaction cross-sections and neutron energy spectra. In this work we present and discuss several configurations of the miniBELEN detector. The experimental validation of the efficiency calculations using 252Cf sources and the measurement of the 27Al(alpha,n)30P reaction is also presented., Comment: 15th International Conference on Nuclear Data for Science and Technology (ND2022)

Published
2023
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42. Measurement of the Argon Purity by ICP-MS and Results of the Analysis of the Gas Used for the MicroBooNE Experiment

Author

Santorelli, R., Olmedo, A. I. Barrado, Vilda, E. Conde, Diaz, M. Fernandez, Pesudo, V., and Romero, L.

Subjects
Physics - Instrumentation and Detectors, High Energy Physics - Experiment
Abstract

Measuring the argon purity is critical for all Ar-based rare event research experiments. Mass spectrometry is typically used to assess the uranium and thorium contamination in samples of the materials used to build low-background detectors; however, this technique has the potential to provide other valuable information that is currently not exploited. We have shown that, by ICP-MS, it is possible to identify and quantify common chemical contaminants in argon. Preliminary tests were done with the gas extracted from the experiments MicroBooNE at FNAL and ArDM at LSC. In the former case, we evidenced relevant nitrogen contamination well above the one measured in the commercial argon gas. In ArDM, we identified and quantified the presence of mercury in the gas used for its science run. In both cases, the presence of krypton (~ppb) and xenon (~10s ppb) in argon gas has been established., Comment: Proceedings for Low Radioactivity Techniques (LRT) 2022

Published
2023

43. SCAR32: Functional characterization and expansion of the clinical‐genetic spectrum

Author

Valentina Naef, Maria Lieto, Sara Satolli, Rosa De Micco, Martina Troisi, Rosa Pasquariello, Stefano Doccini, Flavia Privitera, Alessandro Filla, Alessandro Tessitore, and Filippo Maria Santorelli

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Objective Biallelic mutations in PRDX3 have been linked to autosomal recessive spinocerebellar ataxia type 32. In this study, which aims to contribute to the growing body of knowledge on this rare disease, we identified two unrelated patients with mutations in PRDX3. We explored the impact of PRDX3 mutation in patient skin fibroblasts and the role of the gene in neurodevelopment. Methods We performed trio exome sequencing that identified mutations in PRDX3 in two unrelated patients. We also performed functional studies in patient skin fibroblasts and generated a “crispant” zebrafish (Danio rerio) model to investigate the role of the gene during nervous system development. Results Our study reports two additional patients. Patient 1 is a 19‐year‐old male who showed a novel homozygous c.525_535delGTTAGAAGGTT (p. Leu176TrpfsTer11) mutation as the genetic cause of cerebellar ataxia. Patient 2 is a 20‐year‐old male who was found to present the known c.425C>G/p. Ala142Gly variant in compound heterozygosity with the p. Leu176TrpfsTer11 one. While the fibroblast model failed to recapitulate the pathological features associated with PRDX3 loss of function, our functional characterization of the prdx3 zebrafish model revealed motor defects, increased susceptibility to reactive oxygen species‐triggered apoptosis, and an impaired oxygen consumption rate. Conclusions We identified a new variant, thereby expanding the genetic spectrum of PRDX3‐related disease. We developed a novel zebrafish model to investigate the consequences of prdx3 depletion on neurodevelopment and thus offered a potential new tool for identifying new treatment opportunities.

Published
2024
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44. Precision Measurement of the Specific Activity of $^{39}$Ar in Atmospheric Argon with the DEAP-3600 Detector

Author

Adhikari, P., Ajaj, R., Alpízar-Venegas, M., Amaudruz, P. -A., Anstey, J., Araujo, G. R., Auty, D. J., Baldwin, M., Batygov, M., Beltran, B., Benmansour, H., Bina, C. E., Bonatt, J., Bonivento, W., Boulay, M. G., Broerman, B., Bueno, J. F., Burghardt, P. M., Butcher, A., Cadeddu, M., Cai, B., Cárdenas-Montes, M., Cavuoti, S., Chen, M., Chen, Y., Choudhary, S., Cleveland, B. T., Corning, J. M., Crampton, R., Cranshaw, D., Daughtery, S., DelGobbo, P., Dering, K., Di Stefano, P., DiGioseffo, J., Dolganov, G., Doria, L., Duncan, F. A., Dunford, M., Ellingwood, E., Erlandson, A., Farahani, S. S., Fatemighomi, N., Fiorillo, G., Florian, S., Flower, A., Ford, R. J., Gagnon, R., Gallacher, D., Abia, P. García, Garg, S., Giampa, P., Giménez-Alcázar, A., Goeldi, D., Golovko, V. V., Gorel, P., Graham, K., Grant, D. R., Grobov, A., Hallin, A. L., Hamstra, M., Harvey, P. J., Haskins, S., Hearns, C., Hu, J., Hucker, J., Hugues, T., Ilyasov, A., Jigmeddorj, B., Jillings, C. J., Joy, A., Kamaev, O., Kaur, G., Kemp, A., Kuźniak, M., La Zia, F., Lai, M., Langrock, S., Lehnert, B., Leonhardt, A., LePage-Bourbonnais, J., Levashko, N., Lidgard, J., Lindner, T., Lissia, M., Lock, J., Machulin, I., Majewski, P., Maru, A., Mason, J., McDonald, A. B., McElroy, T., McGinn, T., McLaughlin, J. B., Mehdiyev, R., Mielnichuk, C., Mirasola, L., Monroe, J., Nadeau, P., Nantais, C., Ng, C., Noble, A. J., O'Dwyer, E., Oliviéro, G., Ouellet, C., Pal, S., Papi, D., Pasuthip, P., Peeters, S. J. M., Perry, M., Pesudo, V., Picciau, E., Piro, M. -C., Pollmann, T. R., Rad, F., Rand, E. T., Rethmeier, C., Retière, F., García, I. Rodríguez, Roszkowski, L., Ruhland, J. B., Santorelli, R., Schuckman II, F. G., Seeburn, N., Seth, S., Shalamova, V., Singhrao, K., Skensved, P., Smith, N. J. T., Smith, B., Sobotkiewich, K., Sonley, T., Sosiak, J., Soukup, J., Stainforth, R., Stone, C., Strickland, V., Stringer, M., Sur, B., Tang, J., Vázquez-Jáuregui, E., Veloce, L., Viel, S., Vyas, B., Walczak, M., Walding, J., Ward, M., Westerdale, S., Willis, J., and Zuñiga-Reyes, A.

Subjects
Physics - Instrumentation and Detectors, High Energy Physics - Experiment
Abstract

The specific activity of the beta decay of $^{39}$Ar in atmospheric argon is measured using the DEAP-3600 detector. DEAP-3600, located 2 km underground at SNOLAB, uses a total of (3269 $\pm$ 24) kg of liquid argon distilled from the atmosphere to search for dark matter. This detector with very low background uses pulseshape discrimination to differentiate between nuclear recoils and electron recoils and is well-suited to measure the decay of $^{39}$Ar. With 167 live-days of data, the measured specific activity at the time of atmospheric extraction is [0.964 $\pm$ 0.001 (stat) $\pm$ 0.024 (sys)] Bq/kg$_{\rm atmAr}$ which is consistent with results from other experiments. A cross-check analysis using different event selection criteria provides a consistent result.

Published
2023
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45. Constraining scalar leptoquarks using COHERENT data

Author

Calabrese, Roberta, Gunn, Jacob, Miele, Gennaro, Morisi, Stefano, Roy, Samiran, and Santorelli, Pietro

Subjects
High Energy Physics - Phenomenology
Abstract

Neutrino-nucleus coherent scattering measurements by the COHERENT collaboration provide us with a unique capability to test various beyond the standard model scenarios. In this work, we constrain scalar leptoquarks (LQs) using the COHERENT data. LQs arise in many extensions of the Standard Model (SM). Generally, the mass of the LQs is assumed to be very high to avoid the bounds from proton decay. However, there are low-scale LQ models which prohibit proton decay by construction. We consider two electroweak doublet scalar LQ models with hypercharge Y=1/6, and Y=7/6 and provide the bounds in the plane of the Yukawa coupling and the mass of LQ. We also compare the bounds on LQs coming from various other experiments and find that the COHERENT one covers a wide range of LQ masses from MeV to TeV and in certain regions the constraints are competitive with the others., Comment: 9 pages, 4 figures, 2 tables, matches the published version

Published
2022
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46. Expanding the molecular landscape of childhood apraxia of speech: evidence from a single-center experience

Author

Daniela Formicola, Irina Podda, Elia Dirupo, Elena Andreucci, Sabrina Giglio, Paola Cipriani, Clara Bombonato, Filippo Maria Santorelli, and Anna Chilosi

Subjects
childhood apraxia of speech, exome sequencing, high confidence genes, low confidence genes, gene ontology and expression profile of CAS genes, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

BackgroundChildhood apraxia of speech (CAS) is a genetically heterogeneous pediatric motor speech disorder. The advent of whole exome sequencing (WES) and whole genome sequencing techniques has led to increased identification of pathogenic variants in CAS genes. In an as yet uncharacterized Italian cohort, we aimed both to identify new pathogenic gene variants associated with CAS, and to confirm the disease-related role of genes already reported by others. We also set out to refine the clinical and neurodevelopmental characterization of affected children, with the aim of identifying specific, gene-related phenotypes.MethodsIn a single-center study aiming to explore the genetic etiology of CAS in a cohort of 69 Italian children, WES was performed in the families of the 34 children found to have no copy number variants. Each of these families had only one child affected by CAS.ResultsHigh-confidence (HC) gene variants were identified in 7/34 probands, in two of whom they affected KAT6A and CREBBP, thus confirming the involvement of these genes in speech impairment. The other probands carried variants in low-confidence (LC) genes, and 20 of these variants occurred in genes not previously reported as associated with CAS. UBA6, ZFHX4, and KAT6A genes were found to be more enriched in the CAS cohort compared to control individuals. Our results also showed that most HC genes are involved in epigenetic mechanisms and are expressed in brain regions linked to language acquisition processes.ConclusionOur findings confirm a relatively high diagnostic yield in Italian patients.

Published
2024
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47. Glucose metabolism impairment as a hallmark of progressive myoclonus epilepsies: a focus on neuronal ceroid lipofuscinoses

Author

Lorenzo Santucci, Sara Bernardi, Rachele Vivarelli, Filippo Maria Santorelli, and Maria Marchese

Subjects
glucose metabolism, neurodegeneration, progressive myoclonic epilepsies, neuronal ceroid lipofuscinosis, anti-diabetics, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Glucose is the brain’s main fuel source, used in both energy and molecular production. Impaired glucose metabolism is associated with adult and pediatric neurodegenerative diseases such as Alzheimer’s disease (AD), Parkinson’s disease (PD), GLUT1 deficiency syndrome, and progressive myoclonus epilepsies (PMEs). PMEs, a group of neurological disorders typical of childhood and adolescence, account for 1% of all epileptic diseases in this population worldwide. Diffuse glucose hypometabolism is observed in the brains of patients affected by PMEs such as Lafora disease (LD), dentatorubral-pallidoluysian (DRPLA) atrophy, Unverricht–Lundborg disease (ULD), and myoclonus epilepsy with ragged red fibers (MERRFs). PMEs also include neuronal ceroid lipofuscinoses (NCLs), a subgroup in which lysosomal and autophagy dysfunction leads to progressive loss of vision, brain atrophy, and cognitive decline. We examine the role of impaired glucose metabolism in neurodegenerative diseases, particularly in the NCLs. Our literature review, which includes findings from case reports and animal studies, reveals that glucose hypometabolism is still poorly characterized both in vitro and in vivo in the different NCLs. Better identification of the glucose metabolism pathway impaired in the NCLs may open new avenues for evaluating the therapeutic potential of anti-diabetic agents in this population and thus raise the prospect of a therapeutic approach able to delay or even halt disease progression.

Published
2024
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48. Mother and Infant Research Electronic Data Analysis (MIREDA): A protocol for creating a common data model for federated analysis of UK birth cohorts and the life course

Author

Michael Seaborne, Hope Jones, Neil Cockburn, Stevo Durbaba, Arturo González-Izquierdo, Amy Hough, Dan Mason, Carlos Sánchez-Soriano, Chris Orton, Armando Méndez-Villalon, Tom Giles, David Ford, Phillip Quinlan, Krish Nirantharakumar, Lucilla Poston, Rebecca Reynolds, Gillian Santorelli, and Sinead Brophy

Subjects
birth cohort, life course, data science, data linkage, population data, routinely collected health data, Demography. Population. Vital events, HB848-3697
Abstract

Introduction Birth cohorts are valuable resources for studying early life, the determinants of health, disease, and development. They are essential for studying life course. Dynamic longitudinal electronic cohorts use routinely collected data, are live, and can reduce selection bias specifically associated with direct recruitment in traditional birth cohorts. However, they are limited to health and administrative data and may lack contextual information. The MIREDA (Mother and Infant Research Electronic Data Analysis) partnership creates a UK-wide birth cohort by aligning existing electronic birth cohorts to have the same structure, content, and vocabularies, enabling UK-wide federated analyses. Objectives 1) Create a core dynamic, live UK-wide electronic birth cohort with approximately 500,000 new births per year using a common data model (CDM). 2) Provide data linkage and automation for long-term follow up of births from the Clinical Practice Research Datalink (CPRD), MuM-PreDiCT and the `Born in' initiatives of Bradford, Wales, Scotland, and South London for comparable analyses. Methods We will establish core data content and collate linkable data. A suite of extraction, transformation, and load (ETL) tools will be used to transform data for each birth cohort into the CDM. Transformed datasets will remain within each cohort's trusted research environment (TRE). Metadata will be uploaded for the public to the Health Data Research (HDRUK) Innovation Gateway. We will develop a single online data access request for researchers. A cohort profile will be developed for researchers to reference the resource. Ethics Each cohort has approval from their TRE through compliance with their project application processes and information governance. Dissemination We will engage with researchers in the field to promote our resource through partnership networking, publication, research collaborations, conferences, social media, and marketing communications strategies.

Published
2024
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49. Decreasing ganglioside synthesis delays motor and cognitive symptom onset in Spg11 knockout mice

Author

Manon Fortier, Margaux Cauhapé, Suzie Buono, Julien Becker, Alexia Menuet, Julien Branchu, Ivana Ricca, Serena Mero, Karim Dorgham, Khalid-Hamid El Hachimi, Kostantin Dobrenis, Benoit Colsch, Dominic Samaroo, Morgan Devaux, Alexandra Durr, Giovanni Stevanin, Filippo M. Santorelli, Sophie Colombo, Belinda Cowling, and Frédéric Darios

Subjects
Hereditary spastic paraplegia, Motor neuron disease, Neurodegeneration, Therapy, Small molecule, Lysosome, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Biallelic variants in the SPG11 gene account for the most common form of autosomal recessive hereditary spastic paraplegia characterized by motor and cognitive impairment, with currently no therapeutic option. We previously observed in a Spg11 knockout mouse that neurodegeneration is associated with accumulation of gangliosides in lysosomes. To test whether a substrate reduction therapy could be a therapeutic option, we downregulated the key enzyme involved in ganglioside biosynthesis using an AAV-PHP.eB viral vector expressing a miRNA targeting St3gal5. Downregulation of St3gal5 in Spg11 knockout mice prevented the accumulation of gangliosides, delayed the onset of motor and cognitive symptoms, and prevented the upregulation of serum levels of neurofilament light chain, a biomarker widely used in neurodegenerative diseases. Importantly, similar results were observed when Spg11 knockout mice were administrated venglustat, a pharmacological inhibitor of glucosylceramide synthase expected to decrease ganglioside synthesis. Downregulation of St3gal5 or venglustat administration in Spg11 knockout mice strongly decreased the formation of axonal spheroids, previously associated with impaired trafficking. Venglustat had similar effect on cultured human SPG11 neurons. In conclusion, this work identifies the first disease-modifying therapeutic strategy in SPG11, and provides data supporting its relevance for therapeutic testing in SPG11 patients.

Published
2024
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50. Generation of a human induced pluripotent stem cell line (FSMi001-A) from fibroblasts of a patient carrying heterozygous mutation in the REEP1 gene

Author

Matteo Baggiani, Filippo Maria Santorelli, Serena Mero, Flavia Privitera, Devid Damiani, and Alessandra Tessa

Subjects
Biology (General), QH301-705.5
Abstract

Hereditary spastic paraplegias (HSPs) a group of rare, clinically, and genetically heterogeneous disorders characterized by progressive degeneration of the corticospinal tract. Among these HSPs, SPG31 is due to autosomal dominant mutations in the receptor expression-enhancing protein 1 (REEP1) gene. Over 80 genes have been associated with HSPs, and the list is constantly growing as research progresses. This study is aimed to create a patient-derived human induced pluripotent stem cell (hiPSC) line with a specific nonsense mutation to better characterize the etiopathogenesis of the disease.

Published
2024
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