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1. Teaching Note--Exploring Podcast-Facilitated Course Work on Racism

Author

Belfiore, M. Nicole, Hoover, Jeanette L., Jenkins, Angel R., and Ting, Laura

Abstract

Social work educators teach cultural competency and guide students to understand and address racism. Using mixed methods, we explored the influence of a one-semester course on racial attitudes, skills, and knowledge among 10 diverse undergraduate students. The "Seeing White" podcast delivered content about historic and systemic race-based oppression and discrimination in American society. Students participated in seminars, maintained reflective journals, and wrote a self-analysis paper to integrate learning. Findings indicate increased knowledge and understanding of key concepts and a commitment to respond to institutional racism. Implications for social work education suggest the need for humility and a willingness for educators and institutions to share power. Ideas for course work on racism are provided.

Published
2021
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9. Hepatic tumors: pitfalls in diagnostic imaging

Author

Grazzini G., Cozzi D., Flammia F., Grassi R., Agostini A., Belfiore M. P., Borgheresi A., Mazzei M. A., Floridi C., Carrafiello G., Giovagnoni A., Pradella S., Miele V., Grazzini, G., Cozzi, D., Flammia, F., Grassi, R., Agostini, A., Belfiore, M. P., Borgheresi, A., Mazzei, M. A., Floridi, C., Carrafiello, G., Giovagnoni, A., Pradella, S., and Miele, V.

Subjects
focal nodular hyperplasia, Carcinoma, Hepatocellular, hepatocellular adenoma, Liver Neoplasms, food and beverages, Review, hepatocellular carcinoma, Magnetic Resonance Imaging, digestive system diseases, Hepatocellular tumor, Diagnosis, Differential, Humans, hepatocellular tumors, Hepatocel-lular carcinoma, CT, MRI
Abstract

On computed tomography (CT) and magnetic resonance imaging (MRI), hepatocellular tumors are characterized based on typical imaging findings. However, hepatocellular adenoma, focal nodular hyper-plasia, and hepatocellular carcinoma can show uncommon appearances at CT and MRI, which may lead to diagnostic challenges. When assessing focal hepatic lesions, radiologists need to be aware of these atypical imaging findings to avoid misdiagnoses that can alter the management plan. The purpose of this review is to illustrate a variety of pitfalls and atypical features of hepatocellular tumors that can lead to misinterpretations providing specific clues to the correct diagnoses. (www.actabiomedica.it).

Published
2020

10. Total Severity Score (TSS) comparison in vaccinated and unvaccinated patients during the fourth wave (December 2021 - January 2022) of COVID-19 in Italy

Author

RUSSO G. M., MANGONI DI SANTO STEFANO M. L., BELFIORE M. P., ANNUNZIATA G., ZOI E., GALLO L., CIANI G., URRARO F., NARDONE V., REGINELLI A., CAPPABIANCA S., Russo, G. M., MANGONI DI SANTO STEFANO, M. L., Belfiore, M. P., Annunziata, G., Zoi, E., Gallo, L., Ciani, G., Urraro, F., Nardone, V., Reginelli, A., and Cappabianca, S.

Subjects
Single dose/double dose, Acute inflammatory lung lesion, Total severity score, Vaccine COVID-19, COVID-19
Abstract

OBJECTIVE: This study aims at comparing the severity score assessed using high-resolution computed tomography (HRCT) in vaccinated and unvaccinated COVID-19 patients. PATIENTS AND METHODS: From the first of December 2021 to first of February 2022, we conducted a single-center retrospective analysis on COVID-19 patients who accessed ED services. The hospital in question is a level II facility with a catchment area of around 200,000 people. According to the Italian recommendations, patients were divided into four groups based on the CT score of Micheal Chung. The sum of acute inflammatory lung lesions involving each lobe was scored as 1 (0-25%), 2 (26-50%), 3 (51-75%) or 4 (76-100%) on a visual quantitative assessment of CT. The total severity score (TSS) was determined by summing the five lobe scores. RESULTS: The study included 134 patients divided into two groups: 67 vaccinated and 67 unvaccinated people. 53 people had incomplete (single dose/double dose) immunization, while 14 people completed the vaccination cycle. It was discovered that the mean CT severity score was lower in fully vaccinated patients compared to partially vaccinated or unvaccinated patients. The mean CT score was significantly lower in fully vaccinated patients aged 60 compared to older patients. The mean CT score was higher in unvaccinated patients compared to fully vaccinated patients. CONCLUSIONS: Individuals who received three doses of COVID-19 vaccination had lower CT severity scores than patients who received only one dose of vaccine or no vaccines at all.

Published
2022

11. Effects of eight neuropsychiatric copy number variants on human brain structure

Author

Modenato, C., Kumar, K., Moreau, C., Martin-Brevet, S., Huguet, G., Schramm, C., Jean-Louis, M., Martin, C. -O., Younis, N., Tamer, P., Douard, E., Thebault-Dagher, F., Cote, V., Charlebois, A. -R., Deguire, F., Maillard, A. M., Rodriguez-Herreros, B., Pain, A., Richetin, S., Addor, M. -C., Andrieux, J., Arveiler, B., Baujat, G., Sloan-Bena, F., Belfiore, M., Bonneau, D., Bouquillon, S., Boute, O., Brusco, A., Busa, T., Caberg, J. -H., Campion, D., Colombert, V., Cordier, M. -P., David, A., Debray, F. -G., Delrue, M. -A., Doco-Fenzy, M., Dunkhase-Heinl, U., Edery, P., Fagerberg, C., Faivre, L., Forzano, F., Genevieve, D., Gerard, M., Giachino, D., Guichet, A., Guillin, O., Heron, D., Isidor, B., Jacquette, A., Jaillard, S., Journel, H., Keren, B., Lacombe, D., Lebon, S., Le Caignec, C., Lemaitre, M. -P., Lespinasse, J., Mathieu-Dramart, M., Mercier, S., Mignot, C., Missirian, C., Petit, F., Pilekaer Sorensen, K., Pinson, L., Plessis, G., Prieur, F., Raymond, A., Rooryck-Thambo, C., Rossi, M., Sanlaville, D., Schlott Kristiansen, B., Schluth-Bolard, C., Till, M., Van Haelst, M., Van Maldergem, L., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, J. E., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., Laguerre, K., Levy, S., Cavanagh, A. L., Llorens, A. V., Campe, K. L., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M. N., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith-Packard, B., Gallagher, A. S., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Melie-Garcia, L., Kushan, L., Silva, A. I., van den Bree, M. B. M., Linden, D. E. J., Owen, M. J., Hall, J., Lippe, S., Chakravarty, M., Bzdok, D., Bearden, C. E., Draganski, B., Jacquemont, S., Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), 16p11.2 European Consortium, Simons Searchlight Consortium, Psychiatrie & Neuropsychologie, RS: MHeNs - R2 - Mental Health, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, School for Mental Health & Neuroscience, RS: MHeNs - R3 - Neuroscience, Addor, M.C., Andrieux, J., Arveiler, B., Baujat, G., Sloan-Béna, F., Belfiore, M., Bonneau, D., Bouquillon, S., Boute, O., Brusco, A., Busa, T., Caberg, J.H., Campion, D., Colombert, V., Cordier, M.P., David, A., Debray, F.G., Delrue, M.A., Doco-Fenzy, M., Dunkhase-Heinl, U., Edery, P., Fagerberg, C., Faivre, L., Forzano, F., Genevieve, D., Gérard, M., Giachino, D., Guichet, A., Guillin, O., Héron, D., Isidor, B., Jacquette, A., Jaillard, S., Journel, H., Keren, B., Lacombe, D., Lebon, S., Le Caignec, C., Lemaître, M.P., Lespinasse, J., Mathieu-Dramart, M., Mercier, S., Mignot, C., Missirian, C., Petit, F., Pilekær Sørensen, K., Pinson, L., Plessis, G., Prieur, F., Raymond, A., Rooryck-Thambo, C., Rossi, M., Sanlaville, D., Schlott Kristiansen, B., Schluth-Bolard, C., Till, M., Van Haelst, M., Van Maldergem, L., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A.L., Benedetti, M., Berg, J., Berman, J., Berry, L.N., Bibb, A.L., Blaskey, L., Brennan, J., Brewton, C.M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A.G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, J.E., Evans, Y.L., Findlay, A., Fischbach, G.D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S.E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F.I., Jenkins, J., Jeremy, R.J., Johnson, K., Kanne, S.M., Kessler, S., Khan, S.Y., Ku, M., Kuschner, E., Laakman, A.L., Lam, P., Lasala, M.W., Lee, H., LaGuerre, K., Levy, S., Cavanagh, A.L., Llorens, A.V., Campe, K.L., Luks, T.L., Marco, E.J., Martin, S., Martin, A.J., Marzano, G., Masson, C., McGovern, K.E., Keehn, R.M., Miller, D.T., Miller, F.K., Moss, T.J., Murray, R., Nagarajan, S.S., Nowell, K.P., Owen, J., Paal, A.M., Packer, A., Page, P.Z., Paul, B.M., Peters, A., Peterson, D., Poduri, A., Pojman, N.J., Porche, K., Proud, M.B., Qasmieh, S., Ramocki, M.B., Reilly, B., Roberts, TPL, Shaw, D., Sinha, T., Smith-Packard, B., Gallagher, A.S., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., and Wolken, A.

Subjects
0301 basic medicine, Simons Searchlight Consortium, Autism, 0302 clinical medicine, Gyrus, Gene duplication, 2.1 Biological and endogenous factors, Psychology, Copy-number variation, Aetiology, Genetics, Brain, Human brain, Magnetic Resonance Imaging, Psychiatry and Mental health, Mental Health, medicine.anatomical_structure, Schizophrenia, Neurological, Public Health and Health Services, RC321-571, DNA Copy Number Variations, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, 16p11.2 European Consortium, Neurosciences. Biological psychiatry. Neuropsychiatry, Neuroimaging, Biology, Basic Behavioral and Social Science, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, Clinical Research, Behavioral and Social Science, mental disorders, medicine, Humans, 22Q11.2 DELETION SYNDROME, Clinical genetics, AUTISM, COMMON, Biological Psychiatry, Prevention, Human Genome, Brain morphometry, Neurosciences, medicine.disease, DUPLICATION, Brain Disorders, 030104 developmental biology, 030217 neurology & neurosurgery, Neuroscience
Abstract

Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs have large effects on brain anatomy. Here, we aimed to characterize and quantify the distinct brain morphometry effects and latent dimensions across 8 neuropsychiatric CNVs. We analyzed T1-weighted MRI data from clinically and non-clinically ascertained CNV carriers (deletion/duplication) at the 1q21.1 (n = 39/28), 16p11.2 (n = 87/78), 22q11.2 (n = 75/30), and 15q11.2 (n = 72/76) loci as well as 1296 non-carriers (controls). Case-control contrasts of all examined genomic loci demonstrated effects on brain anatomy, with deletions and duplications showing mirror effects at the global and regional levels. Although CNVs mainly showed distinct brain patterns, principal component analysis (PCA) loaded subsets of CNVs on two latent brain dimensions, which explained 32 and 29% of the variance of the 8 Cohen’s d maps. The cingulate gyrus, insula, supplementary motor cortex, and cerebellum were identified by PCA and multi-view pattern learning as top regions contributing to latent dimension shared across subsets of CNVs. The large proportion of distinct CNV effects on brain morphology may explain the small neuroimaging effect sizes reported in polygenic psychiatric conditions. Nevertheless, latent gene brain morphology dimensions will help subgroup the rapidly expanding landscape of neuropsychiatric variants and dissect the heterogeneity of idiopathic conditions.

Published
2021
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12. Author Correction: Coronavirus disease 2019 (COVID-19) in Italy: features on chest computed tomography using a structured report system (Scientific Reports, (2020), 10, 1, (17236), 10.1038/s41598-020-73788-5)

Author

Grassi R., Fusco R., Belfiore M. P., Montanelli A., Patelli G., Urraro F., Petrillo A., Granata V., Sacco P., Mazzei M. A., Feragalli B., Reginelli A., Cappabianca S., Grassi, R., Fusco, R., Belfiore, M. P., Montanelli, A., Patelli, G., Urraro, F., Petrillo, A., Granata, V., Sacco, P., Mazzei, M. A., Feragalli, B., Reginelli, A., and Cappabianca, S.

Abstract

The original version of this Article contained errors in the spelling of the authors Roberto Grassi, Roberta Fusco, Maria Paola Belfiore, Alessandro Montanelli, Gianluigi Patelli, Fabrizio Urraro, Antonella Petrillo, Vincenza Granata, Palmino Sacco, Maria Antonietta Mazzei, Beatrice Feragalli, Alfonso Reginelli & Salvatore Cappabianca which were incorrectly given as Grassi Roberto, Fusco Roberta, Belfiore Maria Paola, Montanelli Alessandro, Patelli Gianluigi, Urraro Fabrizio, Petrillo Antonella, Granata Vincenza, Sacco Palmino, Mazzei Maria Antonietta, Feragalli Beatrice, Reginelli Alfonso & Cappabianca Salvatore. These errors have now been corrected in the PDF and HTML versions of the Article.

Published
2021

13. Extranodal Lymphomas: a pictorial review for CT and MRI classification

Author

Reginelli A., Urraro F., Sangiovanni A., Russo G. M., Russo C., Grassi R., Agostini A., Belfiore M. P., Cellina M., Floridi C., Giovagnoni A., Sica A., Cappabianca S., Reginelli, A., Urraro, F., Sangiovanni, A., Russo, G. M., Russo, C., Grassi, R., Agostini, A., Belfiore, M. P., Cellina, M., Floridi, C., Giovagnoni, A., Sica, A., and Cappabianca, S.

Subjects
Computed Tomography, immune system diseases, hemic and lymphatic diseases, Lymphoma, Non-Hodgkin, Humans, Extranodal lymphomas, Extranodal lymphoma, Review, Tomography, X-Ray Computed, Hodgkin Disease, Magnetic Resonance Imaging
Abstract

Extranodal lymphomas represent an extranodal location of both non-Hodgkin and Hodgkin lym-phomas. This study aims to evaluate the role of CT and MRI in the assessment of relationships of extranodal lymphomas with surrounding tissues and in the characterization of the lesion. We selected and reviewed ten recent studies among the most recent ones present in literature exclusively about CT and MRI imaging of extranodal lymphomas. Contrast-enhanced computed tomography (CT) is usually the first-line imaging mo-dality in the evaluation of extranodal lymphomas, according to Lugano classification. However, MRI has a crucial role thanks to the superior soft-tissue contrast resolution, particularly in the anatomical region as head and neck. (www.actabiomedica.it).

Published
2020

15. Total Severity Score (TSS) comparison in vaccinated and unvaccinated patients during the fourth wave (December 2021 - January 2022) of COVID-19 in Italy.

Author

RUSSO, G. M., DI SANTO STEFANO, M. L. MANGONI, BELFIORE, M. P., ANNUNZIATA, G., ZOI, E., GALLO, L., CIANI, G., URRARO, F., NARDONE, V., REGINELLI, A., and CAPPABIANCA, S.

Abstract

OBJECTIVE: This study aims at comparing the severity score assessed using high-resolution computed tomography (HRCT) in vaccinated and unvaccinated COVID-19 patients. PATIENTS AND METHODS: From the first of December 2021 to first of February 2022, we conducted a single-center retrospective analysis on COVID-19 patients who accessed ED services. The hospital in question is a level II facility with a catchment area of around 200,000 people. According to the Italian recommendations, patients were divided into four groups based on the CT score of Micheal Chung. The sum of acute inflammatory lung lesions involving each lobe was scored as 1 (0-25%), 2 (26-50%), 3 (51-75%) or 4 (76-100%) on a visual quantitative assessment of CT. The total severity score (TSS) was determined by summing the five lobe scores. RESULTS: The study included 134 patients divided into two groups: 67 vaccinated and 67 unvaccinated people. 53 people had incomplete (single dose/double dose) immunization, while 14 people completed the vaccination cycle. It was discovered that the mean CT severity score was lower in fully vaccinated patients compared to partially vaccinated or unvaccinated patients. The mean CT score was significantly lower in fully vaccinated patients aged 60 compared to older patients. The mean CT score was higher in unvaccinated patients compared to fully vaccinated patients. CONCLUSIONS: Individuals who received three doses of COVID-19 vaccination had lower CT severity scores than patients who received only one dose of vaccine or no vaccines at all. [ABSTRACT FROM AUTHOR]

Published
2022

17. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

Author

D'Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Mace, A., Pain, A., Bernier, R., Chawner, S. J. R. A., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., Ferrari, C., Forzano, F., Gerard, M., Goin-Kochel, R. P., Grant, E., Hunter, J. V., Isidor, B., Jacquette, A., Jonch, A. E., Keren, B., Lacombe, D., Le Caignec, C., Martin, C. L., Mannik, K., Metspalu, A., Mignot, C., Mukherjee, P., Owen, M. J., Passeggeri, M., Rooryck-Thambo, C., Rosenfeld, J. A., Spence, S. J., Steinman, K. J., Tjernagel, J., Van Haelst, M., Shen, Y., Draganski, B., Sherr, E. H., Ledbetter, D. H., van den Bree, M. B. M., Beckmann, J. S., Spiro, J. E., Reymond, A., Jacquemont, S., Chung, W. K., Knoers, N. V. A. M., Martinet, D., Belfiore, M., Cuvellier, J. -C., Devries, B., Delrue, M. -A., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, M. A., Minet, J. -C., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, B. H., Koolen, D. A., Vulto-Van Silfhout, A., de Leeuw, N., Rosanfeld, J. A., Filges, I., Achatz, E., Roetzer, K. M., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, P. M., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, G. P., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Freminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, R. F., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Endre, J., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., La, K., Levy, S., Lian, A., Llorens, A. V., Loftus, K., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith, B., Snow, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Blaumeiser, Bettina, Kooy, Frank, Other departments, Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study, 16p11.2 European Consortium, Simons Variation in Individuals Project (VIP) Consortium, Knoers, VA., Martinet, D., Belfiore, M., Cuvellier, JC., de Vries, B., Delrue, MA., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, MA., Minet, JC., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, BH., Koolen, DA., Vulto-van Silfhout, A., de Leeuw, N., Rosenfeld, JA., Filges, I., Achatz, E., Roetzer, KM., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, PM., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, GP., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Fréminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, RF., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, AL., Benedetti, M., Berg, J., Berman, J., Berry, LN., Bibb, AL., Blaskey, L., Brennan, J., Brewton, CM., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, AG., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, JE., Evans, YL., Findlay, A., Fischbach, GD., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, SE., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, FI., Jenkins J.<Suffix>3rd</Suffix>, Jeremy, RJ., Johnson, K., Kanne, SM., Kessler, S., Khan, SY., Ku, M., Kuschner, E., Laakman, AL., Lam, P., Lasala, MW., Lee, H., LaGuerre, K., Levy, S., Lian Cavanagh, A., Llorens, AV., Loftus Campe, K., Luks, TL., Marco, EJ., Martin, S., Martin, AJ., Marzano, G., Masson, C., McGovern, KE., McNally Keehn, R., Miller, DT., Miller, FK., Moss, TJ., Murray, R., Nagarajan, SS., Nowell, KP., Owen, J., Paal, AM., Packer, A., Page, PZ., Paul, BM., Peters, A., Peterson, D., Poduri, A., Pojman, NJ., Porche, K., Proud, MB., Qasmieh, S., Ramocki, MB., Reilly, B., Roberts, TP., Shaw, D., Sinha, T., Smith-Packard, B., Snow Gallagher, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, and Amsterdam Reproduction & Development (AR&D)

Subjects
Male, 0301 basic medicine, Proband, Pediatrics, Autism Spectrum Disorder, Developmental Disabilities, Chromosome Disorders, Comorbidity, Nonverbal learning disorder, Cohort Studies, Cognition, 0302 clinical medicine, Cerebellum, Chromosome Duplication, Gene duplication, Copy-number variation, Non-U.S. Gov't, Child, 2. Zero hunger, Intelligence quotient, Research Support, Non-U.S. Gov't, Middle Aged, Psychiatry and Mental health, Microcephaly, Female, Schizophrenic Psychology, Chromosome Deletion, Psychology, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, Adult, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Research Support, Nervous System Malformations, Article, Chromosomes, Young Adult, 03 medical and health sciences, Intellectual Disability, Journal Article, medicine, Humans, Autistic Disorder, Preschool, Psychiatry, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Epilepsy, Pair 16, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Case-control study, Autism Spectrum Disorder/epidemiology, Autism Spectrum Disorder/genetics, Autistic Disorder/epidemiology, Autistic Disorder/genetics, Case-Control Studies, Cerebellum/abnormalities, Child, Preschool, Chromosome Disorders/epidemiology, Chromosome Disorders/genetics, Chromosomes, Human, Pair 16/genetics, Developmental Disabilities/epidemiology, Developmental Disabilities/genetics, Epilepsy/epidemiology, Epilepsy/genetics, Intellectual Disability/epidemiology, Intellectual Disability/genetics, Microcephaly/epidemiology, Microcephaly/genetics, Nervous System Malformations/epidemiology, Nervous System Malformations/genetics, Schizophrenia/epidemiology, Schizophrenia/genetics, medicine.disease, 030104 developmental biology, Chromosomes, Human, Pair 16, Schizophrenia, Autism, Human medicine, 030217 neurology & neurosurgery
Abstract

Contains fulltext : 167711.pdf (Publisher’s version ) (Closed access) IMPORTANCE: The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI). OBJECTIVES: To characterize the effects of the 16p11.2 duplication on cognitive, behavioral, medical, and anthropometric traits and to understand the specificity of these effects by systematically comparing results in duplication carriers and reciprocal deletion carriers, who are also at risk for ASD. DESIGN, SETTING, AND PARTICIPANTS: This international cohort study of 1006 study participants compared 270 duplication carriers with their 102 intrafamilial control individuals, 390 reciprocal deletion carriers, and 244 deletion controls from European and North American cohorts. Data were collected from August 1, 2010, to May 31, 2015 and analyzed from January 1 to August 14, 2015. Linear mixed models were used to estimate the effect of the duplication and deletion on clinical traits by comparison with noncarrier relatives. MAIN OUTCOMES AND MEASURES: Findings on the Full-Scale IQ (FSIQ), Nonverbal IQ, and Verbal IQ; the presence of ASD or other DSM-IV diagnoses; BMI; head circumference; and medical data. RESULTS: Among the 1006 study participants, the duplication was associated with a mean FSIQ score that was lower by 26.3 points between proband carriers and noncarrier relatives and a lower mean FSIQ score (16.2-11.4 points) in nonproband carriers. The mean overall effect of the deletion was similar (-22.1 points; P < .001). However, broad variation in FSIQ was found, with a 19.4- and 2.0-fold increase in the proportion of FSIQ scores that were very low (100) compared with the deletion group (P < .001). Parental FSIQ predicted part of this variation (approximately 36.0% in hereditary probands). Although the frequency of ASD was similar in deletion and duplication proband carriers (16.0% and 20.0%, respectively), the FSIQ was significantly lower (by 26.3 points) in the duplication probands with ASD. There also were lower head circumference and BMI measurements among duplication carriers, which is consistent with the findings of previous studies. CONCLUSIONS AND RELEVANCE: The mean effect of the duplication on cognition is similar to that of the reciprocal deletion, but the variance in the duplication is significantly higher, with severe and mild subgroups not observed with the deletion. These results suggest that additional genetic and familial factors contribute to this variability. Additional studies will be necessary to characterize the predictors of cognitive deficits.

Published
2016
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20. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Author

Loviglio, M. N, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., Roberts Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A., Collaborators: Loviglio MN, Männik, K, van der Werf, I, Giannuzzi, G, Zazhytska, M, Gheldof, N, Migliavacca, E, Alfaiz, Aa, Roberts Caldeira, I, Hippolyte, L, Maillard, Am, Ferrarini, A, Butschi, Fn, Conrad, B, Addor, Mc, Belfiore, M, Roetzer, K, Dijck, Av, Blaumeiser, B, Kooy, F, Roelens, F, Dheedene, A, Chiaie, Bd, Menten, B, Oostra, A, Caberg, Jh, Carter, M, Kellam, B, Stavropoulos, Dj, Marshall, C, Scherer, Sw, Weksberg, R, Cytrynbaum, C, Bassett, A, Lowther, C, Gillis, J, Mackay, S, Bache, I, Ousager, Lb, Smerdel, Mp, Graakjaer, J, Kjaergaard, S, Metspalu, A, Mathieu, M, Bonneau, D, Guichet, A, Parent, P, Férec, C, Gerard, M, Plessis, G, Lespinasse, J, Masurel, A, Marle, N, Faivre, L, Callier, P, Layet, V, Meur, Nl, Le Goff, C, Duban Bedu, B, Sukno, S, Boute, O, Andrieux, J, Blanchet, P, Geneviève, D, Puechberty, J, Schneider, A, Leheup, B, Jonveaux, P, Mercier, S, David, A, Le Caignec, C, de Pontual, L, Pipiras, E, Jacquette, A, Keren, B, Gilbert Dussardier, B, Bilan, F, Goldenberg, A, Chambon, P, Toutain, A, Till, M, Sanlaville, D, Leube, B, Royer Pokora, B, Grabe, Hj, Schmidt, Co, Schurmann, C, Homuth, G, Thorleifsson, G, Thorsteinsdottir, U, Bernardini, L, Novelli, A, Micale, L, Merla, G, Zollino, M, Mari, Francesca, Rizzo, Cl, Renieri, Alessandra, Silengo, M, Vulto van Silfhout AT, Schouten, M, Pfundt, R, de Leeuw, N, Vansenne, F, Maas, Sm, Barge Schaapveld DQ, Knegt, Ac, Stadheim, B, Rodningen, O, Houge, G, Price, S, Hawkes, L, Campbell, C, Kini, U, Vogt, J, Walters, R, Blakemore, A, Gusella, Jf, Shen, Y, Scott, D, Bacino, Ca, Tsuchiya, K, Ladda, R, Sell, S, Asamoah, A, Hamati, Ai, Rosenfeld, Ja, Shaffer, Lg, Mitchell, E, Hodge, Jc, Beckmann, Js, Jacquemont, S, Reymond, A, Ewans, Lj, Mowat, D, Walker, J, Amor, Dj, Esch, Hv, Leroy, P, Bamforth, Js, Babu, D, Isidor, B, Didonato, N, Hackmann, K, Passeggeri, M, Haeringen, Av, Smith, R, Ellingwood, S, Farber, Dm, Puri, V, Zadeh, N, Weaver, Dd, Miller, M, Wilks, T, Jorgez, Cj, Lafayette, D, Blaumeiser, Bettina, 2p15 Consortium, 16p11.2 Consortium, Loviglio, M.N., Männik, K., van der Werf, I., Giannuzzi, G., Zazhytska, M., Gheldof, N., Migliavacca, E., Alfaiz, A.A., Roberts-Caldeira, I., Hippolyte, L., Maillard, A.M., Ferrarini, A., Butschi, F.N., Conrad, B., Addor, M.C., Belfiore, M., Roetzer, K., Dijck, A.V., Blaumeiser, B., Kooy, F., Roelens, F., Dheedene, A., Chiaie, B.D., Menten, B., Oostra, A., Caberg, J.H., Carter, M., Kellam, B., Stavropoulos, D.J., Marshall, C., Scherer, S.W., Weksberg, R., Cytrynbaum, C., Bassett, A., Lowther, C., Gillis, J., MacKay, S., Bache, I., Ousager, L.B., Smerdel, M.P., Graakjaer, J., Kjaergaard, S., Metspalu, A., Mathieu, M., Bonneau, D., Guichet, A., Parent, P., Férec, C., Gerard, M., Plessis, G., Lespinasse, J., Masurel, A., Marle, N., Faivre, L., Callier, P., Layet, V., Meur, N.L., Le Goff, C., Duban-Bedu, B., Sukno, S., Boute, O., Andrieux, J., Blanchet, P., Geneviève, D., Puechberty, J., Schneider, A., Leheup, B., Jonveaux, P., Mercier, S., David, A., Le Caignec, C., de Pontual, L., Pipiras, E., Jacquette, A., Keren, B., Gilbert-Dussardier, B., Bilan, F., Goldenberg, A., Chambon, P., Toutain, A., Till, M., Sanlaville, D., Leube, B., Royer-Pokora, B., Grabe, H.J., Schmidt, C.O., Schurmann, C., Homuth, G., Thorleifsson, G., Thorsteinsdottir, U., Bernardini, L., Novelli, A., Micale, L., Merla, G., Zollino, M., Mari, F., Rizzo, C.L., Renieri, A., Silengo, M., Vulto-van Silfhout, A.T., Schouten, M., Pfundt, R., de Leeuw, N., Vansenne, F., Maas, S.M., Barge-Schaapveld, D.Q., Knegt, A.C., Stadheim, B., Rodningen, O., Houge, G., Price, S., Hawkes, L., Campbell, C., Kini, U., Vogt, J., Walters, R., Blakemore, A., Gusella, J.F., Shen, Y., Scott, D., Bacino, C.A., Tsuchiya, K., Ladda, R., Sell, S., Asamoah, A., Hamati, A.I., Rosenfeld, J.A., Shaffer, L.G., Mitchell, E., Hodge, J.C., Beckmann, J.S., Jacquemont, S., Reymond, A., Ewans, L.J., Mowat, D., Walker, J., Amor, D.J., Esch, H.V., Leroy, P., Bamforth, J.S., Babu, D., Isidor, B., DiDonato, N., Hackmann, K., Passeggeri, M., Haeringen, A.V., Smith, R., Ellingwood, S., Farber, D.M., Puri, V., Zadeh, N., Weaver, D.D., Miller, M., Wilks, T., Jorgez, C.J., Lafayette, D., Other departments, and Human Genetics

Subjects
0301 basic medicine, Male, Microcephaly, Autism Spectrum Disorder, Obesity/genetics, Settore MED/03 - GENETICA MEDICA, Body Mass Index, Microcephaly/genetics, Gene duplication, Chromosome Duplication, ddc:576.5, Copy-number variation, Child, In Situ Hybridization, In Situ Hybridization, Fluorescence, Genetics, medicine.diagnostic_test, Chromosome Mapping, Middle Aged, Phenotype, Chromatin, Chemistry, Psychiatry and Mental Health, Child, Preschool, Female, Original Article, Chromosomes, Human, Pair 16/genetics, Megalencephaly/genetics, Chromosome Deletion, Autistic Disorder/genetics, Molecular Biology, Cellular and Molecular Neuroscience, Human, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, Adolescent, DNA Copy Number Variations, Locus (genetics), DNA Copy Number Variations/genetics, Biology, Aged, Autistic Disorder, Chromosomes, Human, Pair 16, Humans, Infant, Intellectual Disability, Megalencephaly, Obesity, Chromosomes, Fluorescence, Chromatin/metabolism, 03 medical and health sciences, medicine, Preschool, Gene, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Pair 16, medicine.disease, Intellectual Disability/genetics, Autism Spectrum Disorder/genetics, 030104 developmental biology, Human medicine, Chromosome Mapping/methods, Fluorescence in situ hybridization
Abstract

Contains fulltext : 174530.pdf (Publisher’s version ) (Open Access) Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phenotypes of obesity/underweight and macrocephaly/microcephaly. Such phenotypes were previously associated with rearrangements of the non-overlapping proximal 16p11.2 600 kb BP4-BP5 interval. These two CNV-prone regions at 16p11.2 are reciprocally engaged in complex chromatin looping, as successfully confirmed by 4C-seq, fluorescence in situ hybridization and Hi-C, as well as coordinated expression and regulation of encompassed genes. We observed that genes differentially expressed in 16p11.2 BP4-BP5 CNV carriers are concomitantly modified in their chromatin interactions, suggesting that disruption of chromatin interplays could participate in the observed phenotypes. We also identified cis- and trans-acting chromatin contacts to other genomic regions previously associated with analogous phenotypes. For example, we uncovered that individuals with reciprocal rearrangements of the trans-contacted 2p15 locus similarly display mirror phenotypes on head circumference and weight. Our results indicate that chromosomal contacts' maps could uncover functionally and clinically related genes.

Published
2015
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22. NEURONAL ACTIVITY PATTERNS IN THE RAT VISUAL SYSTEM: THE ROLE OF DORSAL LATERAL GENICULATE NUCLEUS IN RETINO-CORTICAL TRANSMISSION

Author

Montesano G, Belfiore M, Ripamonti M, Arena A, Zimarino V, AMBROSI, ALESSANDRO, Malgaroli A., LAMANNA , JACOPO, FENS, Montesano, G, Belfiore, M, Ripamonti, M, Arena, A, Lamanna, Jacopo, Zimarino, V, Ambrosi, Alessandro, and Malgaroli, A.

Abstract

Aims: to characterize and analyze the responses of rat dorsal Lateral Geniculate Nucleus (dLGN) to different kinds of retinal inputs and outline its role in retino-cortical transmission. Methods: various light stimulation approaches were used together with pharmacological manipulations. A selective blocker of the bipolar ON cells (LAP4) and a potassium channel blocker (4-AP) were employed produce highly clean (LAP4, pure OFF output) and noisy (4-AP) responses to visual stimuli. The effect on geniculo-cortical transmission was studied via Visual Evoked Potential recordings, while the effect on the activation pattern of the dLGN was evaluated via immunostainings for the protein c-fos. Results: the rat dLGN showed a differential activation of excitatory and inhibitory neurons in the two experimental conditions, thus playing a great role in regulating retino-cortical transmission of different visual inputs. Indeed, it appeared to act as an effective filter for the noisy stimuli (4-AP) activating a strong inhibitory circuitry and effectively suppressing the information flow to the visual cortex. We also analyzed the spatial distribution of cells expressing c-fos in dLGN obtaining clear evidence for a non homogeneous arrangement of active cells. Conclusions: these data confirm the important role of dLGN in visual processing, with either suppression or enhancement of sensory transmission depending on the characteristics of the input signals, presumably according to the amount of information conveyed. The inhomogeneous distribution of active cells could be related either to a peculiar distribution of synapses and synaptic weights or to a strong shaping of active regions due to inhibitory circuits

Published
2014

24. ANALYSIS OF THE EFFECTS OF ANESTHETICS ON THE RAT VISUAL CORTEX ACTIVITY

Author

Arena A, LAMANNA , JACOPO, Ripamonti M, Ferro M, Belfiore M, Montesano G, AMBROSI , ALESSANDRO, Malgaroli A., SIF Società Italiana di Fisiologia, Arena, A, Lamanna, Jacopo, Ripamonti, M, Ferro, M, Belfiore, M, Montesano, G, Ambrosi, Alessandro, and Malgaroli, A.

Subjects
Sevoflurane, L-AP4, Visual Evoked Potential
Abstract

"Even if anesthetics are widely used in the medical practice to ensure the induction and maintenance of general anesthesia, there is still an unresolved issue which relates to their mechanism of action therefore to the nature of their molecular target site(s). Since a large number of very different chemical molecules are used in general anesthesia, this suggests that a large variety of molecular targets must exist. Some of these might affect axonal conduction and membrane excitability. In some cases, this action could either occur at the presynaptic level, modifying the neurotransmitter release and reuptake, or at the postsynaptic level, modifying the receptor sensitivity. These functional alterations might also affect one or more neuronal phenotypes for example by dampening the activity of the Glutamatergic circuits, or by enhancing the activity of GABAergic networks (or other inhibitory systems). Despite the underlying complexity of molecular targets, all general anesthetics induce a general and profound inhibition of cortical EEG activity while sparing evoked cortical responses. Based on these considerations, I decided to begin the investigation of the electrophysiological basis of the action of general anesthetics on the visual thalamus and on cortical circuits for vision in the rat. In this project I will compare the effects of different anesthetic molecules including sevofluorane, propofol and ketamine. Fot these experiments rats are curarized (one bolus of atracurium, 5 mg\/kg, each 20 minutes) and mechanically ventilated by the insertion of a cannula in trachea (the oxygen and CO2 level are continuously monitored). In these experiments I record: i) visual evoked potentials (VEPs) by superficial electrodes implanted in the skull; ii)intracellular visual cortex activity by sharp electrodes; iii) the pattern of activation of neurons in the LGN and cortex by the expression of the c-fos gene protein product known to report neuronal firing; iv) by applying the synaptic biosensor, GreenZip, which has been recently developed in my laboratory, I will record synaptic network activity with single synapse resolution. In these experiments, rats will be visually stimulated with light pulses (20 msec) or with alternating black and white horizontal stripes at constant overall luminance (2Hz reversal, 0.5 cycle\/degree). In a set of preliminary experiments that I will present at the meeting, I have characterized the effect of sevoflurane, a volatile anesthetic . I found that sevofluorane increases in a dose-dependent manner both the amplitude and the latency of VEPs, while the general cortical electrical activity is reduced. Among the working hypotheses I’m exploring : i)an unbalance between inhibition and excitation in thalamic or cortical circuits by the anesthetic ; ii) an increase in the pool of available vesicles for visually evoked activity because of reduced background activity . At the meeting I will present an account on this work describing the methodological approach and my preliminary results."

Published
2012

26. Transcriptional control of the C. elegans hox gene ceh-13

Author

Streit, A., Kohler, R., Marty, T., Belfiore, M., Stoyanov, C., Affolter, M., Schnabel, R., and Muller, F.

Subjects
Genetic transcription -- Research, Cell adhesion -- Molecular aspects, Drosophila -- Genetic aspects, Gene expression -- Analysis, Biological sciences
Abstract

Mutants of the C. elegans labial homolog ceh-13 fall to form proper anterior structures and display cell adhesion defects(1). ceh-13 is required zygotically and it is expressed in different cell lineages and at different times during development(1,2). A ceh-13::GFP reporter construct containing about 8kb of promoter sequence mimics normal ceh-13 expression, at least in the embryo(2). We present data showing that separable parts of the ceh-13 promoter are responsible for the different temporal and spatial aspects of ceh-13 expression. Important features of the transcriptional control appear to be conserved between flies and worms. The ceh-13 promoter is capable of inducing a reporter gene in the Drosophila embryonic mid-gut in a pattern very reminiscent of endogenous labial expression. This expression is dependent on endogenous labial and on wingless signaling. We are currently characterizing the ceh-13 promoter in more detail, concentrating mainly on a fragment which is responsible for early embryonic expression in C. elegans and for the wg responsiveness in Drosophila. Results will be presented. (1) Brunschwig et al. (1999) Development 126:1537-1546 (2) Wittmann et al. (1997) Development 124:4194-4200

Published
2000

29. Etologia dello shopping

Author

BELFIORE M., BATTAGLINI, PIETRO, SOPPELSA, OTTAVIO, Belfiore, M., Battaglini, Pietro, and Soppelsa, Ottavio

Published
2004

41. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Author

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R.G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N.D., Thorleifsson, G., Belfiore, M., Bouquillon, S., Campion, D., Leeuw, N. de, Vries, L.B.A. de, Esko, T., Fernandez, B.A., Fernandez-Aranda, F., Fernandez-Real, J.M., Gratacos, M., Guilmatre, A., Hoyer, J., Jarvelin, M.R., Kooy, R.F., Kurg, A., Caignec, C. Le, Mannik, K., Platt, O.S., Sanlaville, D., Haelst, M.M. van, Villatoro Gomez, S., Walha, F., Wu, B.L., Yu, Y., Aboura, A., Addor, M.C., Alembik, Y., Antonarakis, S.E., Arveiler, B., Barth, M., Bednarek, N., Bena, F., Bergmann, S., Beri, M., Bernardini, L., Blaumeiser, B., Bonneau, D., Bottani, A., Boute, O., Brunner, H.G., Cailley, D., Callier, P., Chiesa, J., Chrast, J., Coin, L., Coutton, C., Cuisset, J.M., Cuvellier, J.C., David, A., Freminville, B. de, Delobel, B., Delrue, M.A., Demeer, B., Descamps, D., Didelot, G., Dieterich, K., Disciglio, V., Doco-Fenzy, M., Drunat, S., Duban-Bedu, B., Dubourg, C., El-Sayed Moustafa, J.S., Elliott, P., Faas, B.H.W., Faivre, L., Faudet, A., Fellmann, F., Ferrarini, A., Fisher, R., Flori, E., Forer, L., Gaillard, D., Gerard, M., Gieger, C., Gimelli, S., Gimelli, G., Grabe, H.J., Guichet, A., Guillin, O., Hartikainen, A.L., Heron, D., Hippolyte, L., Holder, M., Homuth, G., Isidor, B., Jaillard, S., Jaros, Z., Jimenez-Murcia, S., Helas, G.J., et al., Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R.G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N.D., Thorleifsson, G., Belfiore, M., Bouquillon, S., Campion, D., Leeuw, N. de, Vries, L.B.A. de, Esko, T., Fernandez, B.A., Fernandez-Aranda, F., Fernandez-Real, J.M., Gratacos, M., Guilmatre, A., Hoyer, J., Jarvelin, M.R., Kooy, R.F., Kurg, A., Caignec, C. Le, Mannik, K., Platt, O.S., Sanlaville, D., Haelst, M.M. van, Villatoro Gomez, S., Walha, F., Wu, B.L., Yu, Y., Aboura, A., Addor, M.C., Alembik, Y., Antonarakis, S.E., Arveiler, B., Barth, M., Bednarek, N., Bena, F., Bergmann, S., Beri, M., Bernardini, L., Blaumeiser, B., Bonneau, D., Bottani, A., Boute, O., Brunner, H.G., Cailley, D., Callier, P., Chiesa, J., Chrast, J., Coin, L., Coutton, C., Cuisset, J.M., Cuvellier, J.C., David, A., Freminville, B. de, Delobel, B., Delrue, M.A., Demeer, B., Descamps, D., Didelot, G., Dieterich, K., Disciglio, V., Doco-Fenzy, M., Drunat, S., Duban-Bedu, B., Dubourg, C., El-Sayed Moustafa, J.S., Elliott, P., Faas, B.H.W., Faivre, L., Faudet, A., Fellmann, F., Ferrarini, A., Fisher, R., Flori, E., Forer, L., Gaillard, D., Gerard, M., Gieger, C., Gimelli, S., Gimelli, G., Grabe, H.J., Guichet, A., Guillin, O., Hartikainen, A.L., Heron, D., Hippolyte, L., Holder, M., Homuth, G., Isidor, B., Jaillard, S., Jaros, Z., Jimenez-Murcia, S., Helas, G.J., and et al.

Abstract

Contains fulltext : 96105.pdf (publisher's version ) (Closed access), Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI)

Published
2011

50. Radiofrequency ablation of bone metastases induces long-lasting palliation in patients with untreatable cancer

Author

Belfiore, G., Enrico Tedeschi, Ronza, F. M., Belfiore, M. P., Della Volpe, T., Zeppetella, G., Rotondo, A., Belfiore, G, Tedeschi, E, Ronza, Fm, Belfiore, Mp, DELLA VOLPE, T, Zeppetella, G, Rotondo, Antonio, G., Belfiore, Tedeschi, Enrico, Ronza, F. M., Belfiore, M. P., T., Della Volpe, G., Zeppetella, and A., Rotondo

Subjects
Male, Pain palliation, Radio Waves, Palliative Care, Radiofrequency ablation, Bone Neoplasms, Thermoablation, Osteolysis, Middle Aged, Magnetic Resonance Imaging, Bone metastase, Imaging-guided intervention, Treatment Outcome, Catheter Ablation, Humans, Pain Management, Female, Neoplasm Metastasis, Tomography, X-Ray Computed, Aged
Abstract

Introduction: In oncological patients, life quality can be greatly impaired by the presence of painful bone metastases, as standard forms of treatment often achieve inadequate palliation. The aim of our study was to evaluate the clinical efficacy of radiofrequency ablation (RFA) with respect to pain relief in patients with refractory bone metastases or who are ineligible to conventional treatments. Methods: 12 patients with 13 painful osteolytic skeletal metastases, and who were unresponsive to analgesic drug therapy, underwent one (seven lesions) or two (five lesions) RFA sessions under computed tomography (CT) guidance. The RFA procedure was completed in all patients without complications. One patient also received cementoplasty after the RFA procedure. To obtain semiquantitative pain scores, the brief pain inventory (BPI) was administered before treatment and during follow-up. The local effects of RFA were monitored for at least one year in eight of 12 patients with CT and/or magnetic resonance imaging. Results: Immediate pain relief after treatment was experienced by nine of 12 patients, but in two cases, pain recurred within the first week. Long-lasting palliation was obtained in seven of 12 patients. BPI mean scores for worst and average daily pain decreased from 7.7 and 5.0, respectively, at baseline, to 3.1 and 1.8, respectively, at one year. Imaging follow-up showed large areas of necrosis in nine of 12 lesions. Conclusion: In our preliminary experience, RFA showed good and long-lasting efficacy for pain control in bone metastases. A possible role of RFA as a coadjuvant palliative treatment in these cases is suggested.

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