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7,611 results on '"Schenone, A"'

202. Early investigation of a novel SI306 theranostic prodrug for glioblastoma treatment

Author

Vagaggini, Chiara, primary, Petroni, Debora, additional, D'Agostino, Ilaria, additional, Poggialini, Federica, additional, Cavallini, Chiara, additional, Cianciusi, Annarita, additional, Salis, Annalisa, additional, D'Antona, Lucia, additional, Francesconi, Valeria, additional, Manetti, Fabrizio, additional, Damonte, Gianluca, additional, Musumeci, Francesca, additional, Menichetti, Luca, additional, Dreassi, Elena, additional, Carbone, Anna, additional, and Schenone, Silvia, additional

Published
2024
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205. 91 Quantitative Vessel Assessment for Fetal Growth Restriction using 3D Ultrasound Microvessel Imaging

Author

Santos, Janelle, primary, Scott, Hannah, additional, Lok, U Wai, additional, Gong, Ping, additional, Cheek-Norgan, Elizabeth, additional, Tang, Shanshan, additional, Nienow, Michael, additional, Ruka, Krystal, additional, Schenone, Mauro, additional, Chen, Sihgao, additional, Huang, Chengwu, additional, Enninga, Elizabeth, additional, Zhang, Jingke, additional, and Quinton, Reade, additional

Published
2024
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206. Fetoscopic Endoluminal Tracheal Occlusion for Severe, Left-Sided Congenital Diaphragmatic Hernia

Author

Bergh, Eric, primary, Baschat, Ahmet A., additional, Cortes, Magdalena Sanz, additional, Hedrick, Holly L., additional, Ryan, Greg, additional, Lim, Foong-Yen, additional, Zaretsky, Michael V., additional, Schenone, Mauro H., additional, Crombleholme, Timothy M., additional, Ruano, Rodrigo, additional, Gosnell, Kristen A., additional, and Johnson, Anthony, additional

Published
2023
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210. Neonatal Survival After Serial Amnioinfusions for Bilateral Renal Agenesis

Author

Miller, Jena L., primary, Baschat, Ahmet A., additional, Rosner, Mara, additional, Blumenfeld, Yair J., additional, Moldenhauer, Julie S., additional, Johnson, Anthony, additional, Schenone, Mauro H., additional, Zaretsky, Michael V., additional, Chmait, Ramen H., additional, Gonzalez, Juan M., additional, Miller, Russell S., additional, Moon-Grady, Anita J., additional, Bendel-Stenzel, Ellen, additional, Keiser, Amaris M., additional, Avadhani, Radhika, additional, Jelin, Angie C., additional, Davis, Jonathan M., additional, Warren, Daniel S., additional, Hanley, Daniel F., additional, Watkins, Joslynn A., additional, Samuels, Joshua, additional, Sugarman, Jeremy, additional, and Atkinson, Meredith A., additional

Published
2023
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213. Desarrollo de proyectos inmobiliarios

Author

Sandra Ortiz, Sergio Topor, Fernando Sciarrotta, Perez Cambiaso Agustin A., Mariela Schenone, Carlos A. Savransky, Francisco Andragnes

Published
2021

214. The lncRNA lincNMR regulates nucleotide metabolism via a YBX1 - RRM2 axis in cancer

Author

Minakshi Gandhi, Matthias Groß, Jessica M. Holler, Si’Ana A. Coggins, Nitin Patil, Joerg H. Leupold, Mathias Munschauer, Monica Schenone, Christina R. Hartigan, Heike Allgayer, Baek Kim, and Sven Diederichs

Subjects
Science
Abstract

Despite some well-characterized functions in cancer, the impact of most long non-coding RNAs remains unknown. Here, the authors discover the lncRNA lincNMR which is upregulated in cancer and drives cell proliferation by interacting with YBX1 and controlling nucleotide metabolism.

Published
2020
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215. Analysis of a 3-months measles outbreak in western Liguria, Italy: Are hospital safe and healthcare workers reliable?

Author

Andrea Orsi, Francesca Butera, Maria F. Piazza, Sara Schenone, Paola Canepa, Patrizia Caligiuri, Claudia Arcuri, Bianca Bruzzone, Daniela Zoli, Marco Mela, Laura Sticchi, Filippo Ansaldi, and Giancarlo Icardi

Subjects
Infectious and parasitic diseases, RC109-216, Public aspects of medicine, RA1-1270
Abstract

Background: From January 2017 to June 2018 more than 7000 measles cases were reported in Italy, of which more than 400 among unvaccinated healthcare workers. We described a measles outbreak occurred in Western Liguria, Italy, characterized by a high involvement of healthcare workers and hospital visitors. Methods: Suspected measles cases and data regarding vaccination status and clinical management of the patients were collected by reviewing 3 different surveillance systems: the routine mandatory notification system, the National Integrated Surveillance System for Measles and Rubella and the regional reference laboratory for measles diagnosis. Results: Thirty-six cases were reported, with a median age of 31 years and >95% in unvaccinated subjects. One death occurred, 15 cases were hospitalized. Hospital transmission was confirmed or suspected in 12 cases; amongst this cases, 5 were healthcare workers (a gynaecologist, an obstetric nurse, a radiologist, a physiotherapist and a nurse working in an infectious disease ward), all certified unvaccinated. Phylogenetic analysis revealed the circulation of a single B3 genotype variant. Conclusions: Our experience highlighted the key role of nosocomial transmission and the need for targeted strategies, in particular (i) to implement a measles catch-up immunization campaign in susceptible groups, especially in healthcare workers, (ii) to intensify the check of immunisation status of healthcare workers and to offer vaccination for those who need it, (iii) to improve timeliness and completeness of surveillance systems. Efforts are needed to guarantee the safety of the hospital and the reliability of the healthcare workers. Only high vaccination coverage among HCWs can prevent the diffusion of measles in the hospital setting. Keywords: Measles outbreak, Epidemiological surveillance, Laboratory surveillance, Healthcare workers, Nosocomial transmission

Published
2020
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216. Spinal cord hypermetabolism extends to skeletal muscle in amyotrophic lateral sclerosis: a computational approach to [18F]-fluorodeoxyglucose PET/CT images

Author

Matteo Bauckneht, Rita Lai, Alberto Miceli, Daniela Schenone, Vanessa Cossu, Maria Isabella Donegani, Stefano Raffa, Anna Borra, Stefano Marra, Cristina Campi, Annamaria Orengo, Anna Maria Massone, Alberto Tagliafico, Claudia Caponnetto, Corrado Cabona, Angelina Cistaro, Adriano Chiò, Silvia Morbelli, Flavio Nobili, Gianmario Sambuceti, Michele Piana, and Cecilia Marini

Subjects
Amyotrophic lateral sclerosis, Skeletal muscle, FDG, Prognosis, Medical physics. Medical radiology. Nuclear medicine, R895-920
Abstract

Abstract Purpose Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease leading to neuromuscular palsy and death. We propose a computational approach to [18F]-fluorodeoxyglucose (FDG) PET/CT images to analyze the structure and metabolic pattern of skeletal muscle in ALS and its relationship with disease aggressiveness. Materials and methods A computational 3D method was used to extract whole psoas muscle’s volumes and average attenuation coefficient (AAC) from CT images obtained by FDG PET/CT performed in 62 ALS patients and healthy controls. Psoas average standardized uptake value (normalized on the liver, N-SUV) and its distribution heterogeneity (defined as N-SUV variation coefficient, VC-SUV) were also extracted. Spinal cord and brain motor cortex FDG uptake were also estimated. Results As previously described, FDG uptake was significantly higher in the spinal cord and lower in the brain motor cortex, in ALS compared to controls. While psoas AAC was similar in patients and controls, in ALS a significant reduction in psoas volume (3.6 ± 1.02 vs 4.12 ± 1.33 mL/kg; p < 0.01) and increase in psoas N-SUV (0.45 ± 0.19 vs 0.29 ± 0.09; p < 0.001) were observed. Higher heterogeneity of psoas FDG uptake was also documented in ALS (VC-SUV 8 ± 4%, vs 5 ± 2%, respectively, p < 0.001) and significantly predicted overall survival at Kaplan–Meier analysis. VC-SUV prognostic power was confirmed by univariate analysis, while the multivariate Cox regression model identified the spinal cord metabolic activation as the only independent prognostic biomarker. Conclusion The present data suggest the existence of a common mechanism contributing to disease progression through the metabolic impairment of both second motor neuron and its effector.

Published
2020
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217. Overview of radiomics in breast cancer diagnosis and prognostication

Author

Alberto Stefano Tagliafico, Michele Piana, Daniela Schenone, Rita Lai, Anna Maria Massone, and Nehmat Houssami

Subjects
Breast cancer, Prediction, Digital breast tomosynthesis, Radiomics, Magnetic resonance imaging, Artificial intelligence, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Diagnosis of early invasive breast cancer relies on radiology and clinical evaluation, supplemented by biopsy confirmation. At least three issues burden this approach: a) suboptimal sensitivity and suboptimal positive predictive power of radiology screening and diagnostic approaches, respectively; b) invasiveness of biopsy with discomfort for women undergoing diagnostic tests; c) long turnaround time for recall tests. In the screening setting, radiology sensitivity is suboptimal, and when a suspicious lesion is detected and a biopsy is recommended, the positive predictive value of radiology is modest. Recent technological advances in medical imaging, especially in the field of artificial intelligence applied to image analysis, hold promise in addressing clinical challenges in cancer detection, assessment of treatment response, and monitoring disease progression. Radiomics include feature extraction from clinical images; these features are related to tumor size, shape, intensity, and texture, collectively providing comprehensive tumor characterization, the so-called radiomics signature of the tumor. Radiomics is based on the hypothesis that extracted quantitative data derives from mechanisms occurring at genetic and molecular levels. In this article we focus on the role and potential of radiomics in breast cancer diagnosis and prognostication.

Published
2020
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221. Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease

Author

Guillermo I. Drelichman, Nicolas Fernández Escobar, Barbara C. Soberon, Nora F. Basack, Joaquin Frabasil, Andrea B. Schenone, Gabriel Aguilar, Maria S. Larroudé, James R. Knight, Dejian Zhao, Jiapeng Ruan, and Pramod K. Mistry

Subjects
Gaucher disease, Bone disease, Mutation analysis, Genotype phenotype correlation, Medicine (General), R5-920, Biology (General), QH301-705.5
Abstract

Gaucher disease is renowned for extreme phenotypic diversity that does not show consistent genotype/phenotype correlations. In Argentina, a national collaborative group, Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher, GADTEG, delineated uniformly severe type 1 Gaucher disease manifestations presenting in childhood with large burden of irreversible skeletal disease. Here using Long-Read Single Molecule Real-Time (SMRT) Sequencing of GBA1 locus, we show that the RecNciI allele is highly prevalent and it is associated with severe skeletal manifestations with onset in childhood or in young adults. Additionally, we described novel GBA1 variants not previously described.

Published
2021
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226. Unclassified clinical presentations of chronic inflammatory demyelinating polyradiculoneuropathy

Author

Doneddu, P, Akyil, H, Manganelli, F, Briani, C, Cocito, D, Benedetti, L, Mazzeo, A, Fazio, R, Filosto, M, Cosentino, G, Di Stefano, V, Antonini, G, Marfia, G, Inghilleri, M, Siciliano, G, Clerici, A, Carpo, M, Schenone, A, Luigetti, M, Lauria, G, Mata, S, Rosso, T, Minicuci, G, Lucchetta, M, Cavaletti, G, Liberatore, G, Spina, E, Campagnolo, M, Peci, E, Germano, F, Gentile, L, Strano, C, Cotti Piccinelli, S, Vegezzi, E, Leonardi, L, Mataluni, G, Ceccanti, M, Schirinzi, E, Romozzi, M, Nobile-Orazio, E, Doneddu P. E., Akyil H., Manganelli F., Briani C., Cocito D., Benedetti L., Mazzeo A., Fazio R., Filosto M., Cosentino G., Di Stefano V., Antonini G., Marfia G. A., Inghilleri M., Siciliano G., Clerici A. M., Carpo M., Schenone A., Luigetti M., Lauria G., Mata S., Rosso T., Minicuci G. M., Lucchetta M., Cavaletti G., Liberatore G., Spina E., Campagnolo M., Peci E., Germano F., Gentile L., Strano C., Cotti Piccinelli S., Vegezzi E., Leonardi L., Mataluni G., Ceccanti M., Schirinzi E., Romozzi M., Nobile-Orazio E., Doneddu, P, Akyil, H, Manganelli, F, Briani, C, Cocito, D, Benedetti, L, Mazzeo, A, Fazio, R, Filosto, M, Cosentino, G, Di Stefano, V, Antonini, G, Marfia, G, Inghilleri, M, Siciliano, G, Clerici, A, Carpo, M, Schenone, A, Luigetti, M, Lauria, G, Mata, S, Rosso, T, Minicuci, G, Lucchetta, M, Cavaletti, G, Liberatore, G, Spina, E, Campagnolo, M, Peci, E, Germano, F, Gentile, L, Strano, C, Cotti Piccinelli, S, Vegezzi, E, Leonardi, L, Mataluni, G, Ceccanti, M, Schirinzi, E, Romozzi, M, Nobile-Orazio, E, Doneddu P. E., Akyil H., Manganelli F., Briani C., Cocito D., Benedetti L., Mazzeo A., Fazio R., Filosto M., Cosentino G., Di Stefano V., Antonini G., Marfia G. A., Inghilleri M., Siciliano G., Clerici A. M., Carpo M., Schenone A., Luigetti M., Lauria G., Mata S., Rosso T., Minicuci G. M., Lucchetta M., Cavaletti G., Liberatore G., Spina E., Campagnolo M., Peci E., Germano F., Gentile L., Strano C., Cotti Piccinelli S., Vegezzi E., Leonardi L., Mataluni G., Ceccanti M., Schirinzi E., Romozzi M., and Nobile-Orazio E.

Abstract

Background To assess the ability of the 2021 European Academy of Neurology/Peripheral Nerve Society (EAN/PNS) clinical criteria for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) to include within their classification the whole spectrum of clinical heterogeneity of the disease and to define the clinical characteristics of the unclassifiable clinical forms. Methods The 2021 EAN/PNS clinical criteria for CIDP were applied to 329 patients fulfilling the electrodiagnostic (and in some cases also the supportive) criteria for the diagnosis of CIDP. Clinical characteristics were reviewed for each patient not strictly fulfilling the clinical criteria ('unclassifiable'). Results At study inclusion, 124 (37.5%) patients had an unclassifiable clinical presentation, including 110 (89%) with a typical CIDP-like clinical phenotype in whom some segments of the four limbs were unaffected by weakness ('incomplete typical CIDP'), 10 (8%) with a mild distal, symmetric, sensory or sensorimotor polyneuropathy confined to the lower limbs with cranial nerve involvement ('cranial nerve predominant CIDP') and 4 (1%) with a symmetric sensorimotor polyneuropathy limited to the proximal and distal areas of the lower limbs ('paraparetic CIDP'). Eighty-one (65%) patients maintained an unclassifiable presentation during the entire disease follow-up while 13 patients progressed to typical CIDP. Patients with the unclassifiable clinical forms compared with patients with typical CIDP had a milder form of CIDP, while there was no difference in the distribution patterns of demyelination. Conclusions A proportion of patients with CIDP do not strictly fulfil the 2021 EAN/PNS clinical criteria for diagnosis. These unclassifiable clinical phenotypes may pose diagnostic challenges and thus deserve more attention in clinical practice and research.

Published
2023

227. CSF Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barré Syndrome

Author

Al-Hakem, H, Doets, A, Stino, A, Zivkovic, S, Andersen, H, Willison, H, Cornblath, D, Gorson, K, Islam, Z, Mohammad, Q, Sindrup, S, Kusunoki, S, Davidson, A, Casasnovas, C, Bateman, K, Miller, J, Van Den Berg, B, Verboon, C, Roodbol, J, Leonhard, S, Arends, S, Luijten, L, Benedetti, L, Kuwabara, S, Van Den Bergh, P, Monges, S, Marfia, G, Shahrizaila, N, Galassi, G, Pereon, Y, Burmann, J, Kuitwaard, K, Kleyweg, R, Marchesoni, C, Tous, M, Querol, L, Martin-Aguilar, L, Wang, Y, Nobile-Orazio, E, Rinaldi, S, Schenone, A, Pardo, J, Vermeij, F, Waheed, W, Lehmann, H, Granit, V, Stein, B, Cavaletti, G, Gutierrez-Gutierrez, G, Barroso, F, Visser, L, Katzberg, H, Dardiotis, E, Attarian, S, Van Der Kooi, A, Eftimov, F, Wirtz, P, Samijn, J, Jacobus Gilhuis, H, Hadden, R, Holt, J, Sheikh, K, Kolb, N, Karafiath, S, Vytopil, M, Antonini, G, Feasby, T, Faber, C, Kramers, H, Busby, M, Roberts, R, Silvestri, N, Fazio, R, Van Dijk, G, Garssen, M, Verschuuren, J, Harbo, T, Jacobs, B, Al-Hakem H., Doets A. Y., Stino A. M., Zivkovic S. A., Andersen H., Willison H. J., Cornblath D. R., Gorson K. C., Islam Z., Mohammad Q. D., Sindrup So. H., Kusunoki S., Davidson A., Casasnovas C., Bateman K., Miller J. A. L., Van Den Berg B., Verboon C., Roodbol J., Leonhard S. E., Arends S., Luijten L. W. G., Benedetti L., Kuwabara S., Van Den Bergh P., Monges S., Marfia G. A., Shahrizaila N., Galassi G., Pereon Y., Burmann J., Kuitwaard K., Kleyweg R. P., Marchesoni C., Tous M. J. S., Querol L., Martin-Aguilar L., Wang Y., Nobile-Orazio E., Rinaldi S., Schenone A., Pardo J., Vermeij F. H., Waheed W., Lehmann H. C., Granit V., Stein B., Cavaletti G., Gutierrez-Gutierrez G., Barroso F. A., Visser L. H., Katzberg H. D., Dardiotis E., Attarian S., Van Der Kooi A. J., Eftimov F., Wirtz P. W., Samijn J. P. A., Jacobus Gilhuis H., Hadden R. D. M., Holt J. K. L., Sheikh K. A., Kolb N., Karafiath S., Vytopil M., Antonini G., Feasby T. E., Faber C., Kramers H., Busby M., Roberts R. C., Silvestri N. J., Fazio R., Van Dijk G. W., Garssen M. P. J., Verschuuren J., Harbo T., Jacobs B. C., Al-Hakem, H, Doets, A, Stino, A, Zivkovic, S, Andersen, H, Willison, H, Cornblath, D, Gorson, K, Islam, Z, Mohammad, Q, Sindrup, S, Kusunoki, S, Davidson, A, Casasnovas, C, Bateman, K, Miller, J, Van Den Berg, B, Verboon, C, Roodbol, J, Leonhard, S, Arends, S, Luijten, L, Benedetti, L, Kuwabara, S, Van Den Bergh, P, Monges, S, Marfia, G, Shahrizaila, N, Galassi, G, Pereon, Y, Burmann, J, Kuitwaard, K, Kleyweg, R, Marchesoni, C, Tous, M, Querol, L, Martin-Aguilar, L, Wang, Y, Nobile-Orazio, E, Rinaldi, S, Schenone, A, Pardo, J, Vermeij, F, Waheed, W, Lehmann, H, Granit, V, Stein, B, Cavaletti, G, Gutierrez-Gutierrez, G, Barroso, F, Visser, L, Katzberg, H, Dardiotis, E, Attarian, S, Van Der Kooi, A, Eftimov, F, Wirtz, P, Samijn, J, Jacobus Gilhuis, H, Hadden, R, Holt, J, Sheikh, K, Kolb, N, Karafiath, S, Vytopil, M, Antonini, G, Feasby, T, Faber, C, Kramers, H, Busby, M, Roberts, R, Silvestri, N, Fazio, R, Van Dijk, G, Garssen, M, Verschuuren, J, Harbo, T, Jacobs, B, Al-Hakem H., Doets A. Y., Stino A. M., Zivkovic S. A., Andersen H., Willison H. J., Cornblath D. R., Gorson K. C., Islam Z., Mohammad Q. D., Sindrup So. H., Kusunoki S., Davidson A., Casasnovas C., Bateman K., Miller J. A. L., Van Den Berg B., Verboon C., Roodbol J., Leonhard S. E., Arends S., Luijten L. W. G., Benedetti L., Kuwabara S., Van Den Bergh P., Monges S., Marfia G. A., Shahrizaila N., Galassi G., Pereon Y., Burmann J., Kuitwaard K., Kleyweg R. P., Marchesoni C., Tous M. J. S., Querol L., Martin-Aguilar L., Wang Y., Nobile-Orazio E., Rinaldi S., Schenone A., Pardo J., Vermeij F. H., Waheed W., Lehmann H. C., Granit V., Stein B., Cavaletti G., Gutierrez-Gutierrez G., Barroso F. A., Visser L. H., Katzberg H. D., Dardiotis E., Attarian S., Van Der Kooi A. J., Eftimov F., Wirtz P. W., Samijn J. P. A., Jacobus Gilhuis H., Hadden R. D. M., Holt J. K. L., Sheikh K. A., Kolb N., Karafiath S., Vytopil M., Antonini G., Feasby T. E., Faber C., Kramers H., Busby M., Roberts R. C., Silvestri N. J., Fazio R., Van Dijk G. W., Garssen M. P. J., Verschuuren J., Harbo T., and Jacobs B. C.

Abstract

Background and ObjectivesTo investigate CSF findings in relation to clinical and electrodiagnostic subtypes, severity, and outcome of Guillain-Barré syndrome (GBS) based on 1,500 patients in the International GBS Outcome Study.MethodsAlbuminocytologic dissociation (ACD) was defined as an increased protein level (>0.45 g/L) in the absence of elevated white cell count (<50 cells/L). We excluded 124 (8%) patients because of other diagnoses, protocol violation, or insufficient data. The CSF was examined in 1,231 patients (89%).ResultsIn 846 (70%) patients, CSF examination showed ACD, which increased with time from weakness onset: ≤4 days 57%, >4 days 84%. High CSF protein levels were associated with a demyelinating subtype, proximal or global muscle weakness, and a reduced likelihood of being able to run at week 2 (odds ratio [OR] 0.42, 95% CI 0.25-0.70; p = 0.001) and week 4 (OR 0.44, 95% CI 0.27-0.72; p = 0.001). Patients with the Miller Fisher syndrome, distal predominant weakness, and normal or equivocal nerve conduction studies were more likely to have lower CSF protein levels. CSF cell count was <5 cells/L in 1,005 patients (83%), 5-49 cells/L in 200 patients (16%), and ≥50 cells/L in 13 patients (1%).DiscussionACD is a common finding in GBS, but normal protein levels do not exclude this diagnosis. High CSF protein level is associated with an early severe disease course and a demyelinating subtype. Elevated CSF cell count, rarely ≥50 cells/L, is compatible with GBS after a thorough exclusion of alternative diagnoses.Classification of EvidenceThis study provides Class IV evidence that CSF ACD (defined by the Brighton Collaboration) is common in patients with GBS.

Published
2023

228. Incidence and Long-term Functional Outcome of Neurologic Disorders in Hospitalized Patients with COVID-19 Infected with Pre-Omicron Variants

Author

Beretta, S, Cristillo, V, Camera, G, Morotti Colleoni, C, Pellitteri, G, Viti, B, Bianchi, E, Gipponi, S, Grimoldi, M, Valente, M, Guttmann, S, Cotelli, M, Palumbo, P, Gelosa, G, Meletti, S, Schenone, C, Ottaviani, D, Filippi, M, Zini, A, Basilico, P, Tancredi, L, Cortelli, P, Braga, M, De Giuli, V, Servidei, S, Paolicelli, D, Verde, F, Caproni, S, Pisani, A, Lo Re, V, Massacesi, L, Roccatagliata, D, Manganotti, P, Spitaleri, D, Formenti, A, Piccoli, M, Marino, S, Polverino, P, Aguglia, U, Ornello, R, Perego, E, Siciliano, G, Merlo, P, Capobianco, M, Pantoni, L, Lugaresi, A, Angelocola, S, De Rosa, A, Sessa, M, Beghi, E, Agostoni, E, Monaco, S, Padovani, A, Priori, A, Silani, V, Tedeschi, G, Ferrarese, C, Beretta S., Cristillo V., Camera G., Morotti Colleoni C., Pellitteri G., Viti B., Bianchi E., Gipponi S., Grimoldi M., Valente M., Guttmann S., Cotelli M. S., Palumbo P., Gelosa G., Meletti S., Schenone C., Ottaviani D., Filippi M., Zini A., Basilico P., Tancredi L., Cortelli P., Braga M., De Giuli V., Servidei S., Paolicelli D., Verde F., Caproni S., Pisani A., Lo Re V., Massacesi L., Roccatagliata D. V., Manganotti P., Spitaleri D., Formenti A., Piccoli M., Marino S., Polverino P., Aguglia U., Ornello R., Perego E., Siciliano G., Merlo P., Capobianco M., Pantoni L., Lugaresi A., Angelocola S., De Rosa A., Sessa M., Beghi E., Agostoni E. C., Monaco S., Padovani A., Priori A., Silani V., Tedeschi G., Ferrarese C., Beretta, S, Cristillo, V, Camera, G, Morotti Colleoni, C, Pellitteri, G, Viti, B, Bianchi, E, Gipponi, S, Grimoldi, M, Valente, M, Guttmann, S, Cotelli, M, Palumbo, P, Gelosa, G, Meletti, S, Schenone, C, Ottaviani, D, Filippi, M, Zini, A, Basilico, P, Tancredi, L, Cortelli, P, Braga, M, De Giuli, V, Servidei, S, Paolicelli, D, Verde, F, Caproni, S, Pisani, A, Lo Re, V, Massacesi, L, Roccatagliata, D, Manganotti, P, Spitaleri, D, Formenti, A, Piccoli, M, Marino, S, Polverino, P, Aguglia, U, Ornello, R, Perego, E, Siciliano, G, Merlo, P, Capobianco, M, Pantoni, L, Lugaresi, A, Angelocola, S, De Rosa, A, Sessa, M, Beghi, E, Agostoni, E, Monaco, S, Padovani, A, Priori, A, Silani, V, Tedeschi, G, Ferrarese, C, Beretta S., Cristillo V., Camera G., Morotti Colleoni C., Pellitteri G., Viti B., Bianchi E., Gipponi S., Grimoldi M., Valente M., Guttmann S., Cotelli M. S., Palumbo P., Gelosa G., Meletti S., Schenone C., Ottaviani D., Filippi M., Zini A., Basilico P., Tancredi L., Cortelli P., Braga M., De Giuli V., Servidei S., Paolicelli D., Verde F., Caproni S., Pisani A., Lo Re V., Massacesi L., Roccatagliata D. V., Manganotti P., Spitaleri D., Formenti A., Piccoli M., Marino S., Polverino P., Aguglia U., Ornello R., Perego E., Siciliano G., Merlo P., Capobianco M., Pantoni L., Lugaresi A., Angelocola S., De Rosa A., Sessa M., Beghi E., Agostoni E. C., Monaco S., Padovani A., Priori A., Silani V., Tedeschi G., and Ferrarese C.

Abstract

Background and ObjectivesA variety of neurologic disorders have been reported as presentations or complications of coronavirus disease 2019 (COVID-19) infection. The objective of this study was to determine their incidence dynamics and long-term functional outcome.MethodsThe Neuro-COVID Italy study was a multicenter, observational, cohort study with ambispective recruitment and prospective follow-up. Consecutive hospitalized patients presenting new neurologic disorders associated with COVID-19 infection (neuro-COVID), independently from respiratory severity, were systematically screened and actively recruited by neurology specialists in 38 centers in Italy and the Republic of San Marino. The primary outcomes were incidence of neuro-COVID cases during the first 70 weeks of the pandemic (March 2020-June 2021) and long-term functional outcome at 6 months, categorized as full recovery, mild symptoms, disabling symptoms, or death.ResultsAmong 52,759 hospitalized patients with COVID-19, 1,865 patients presenting 2,881 new neurologic disorders associated with COVID-19 infection (neuro-COVID) were recruited. The incidence of neuro-COVID cases significantly declined over time, comparing the first 3 pandemic waves (8.4%, 95% CI 7.9-8.9; 5.0%, 95% CI 4.7-5.3; 3.3%, 95% CI 3.0-3.6, respectively; p = 0.027). The most frequent neurologic disorders were acute encephalopathy (25.2%), hyposmia-hypogeusia (20.2%), acute ischemic stroke (18.4%), and cognitive impairment (13.7%). The onset of neurologic disorders was more common in the prodromic phase (44.3%) or during the acute respiratory illness (40.9%), except for cognitive impairment whose onset prevailed during recovery (48.4%). A good functional outcome was achieved by most patients with neuro-COVID (64.6%) during follow-up (median 6.7 months), and the proportion of good outcome increased throughout the study period (r = 0.29, 95% CI 0.05-0.50; p = 0.019). Mild residual symptoms were frequently reported (28.1%) while disabling s

Published
2023

230. Control of human hemoglobin switching by LIN28B-mediated regulation of BCL11A translation

Author

Basak, Anindita, Munschauer, Mathias, Lareau, Caleb A., Montbleau, Kara E., Ulirsch, Jacob C., Hartigan, Christina R., Schenone, Monica, Lian, John, Wang, Yaomei, Huang, Yumin, Wu, Xianfang, Gehrke, Lee, Rice, Charles M., An, Xiuli, Christou, Helen A., Mohandas, Narla, Carr, Steven A., Chen, Jane-Jane, Orkin, Stuart H., Lander, Eric S., and Sankaran, Vijay G.

Published
2020
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233. Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years

Author

Chiara Gemelli, Alessandro Geroldi, Sara Massucco, Lucia Trevisan, Ilaria Callegari, Lucio Marinelli, Giulia Ursino, Mehrnaz Hamedani, Giulia Mennella, Silvia Stara, Giovanni Maggi, Laura Mori, Cristina Schenone, Fabio Gotta, Serena Patrone, Alessia Mammi, Paola Origone, Valeria Prada, Lucilla Nobbio, Paola Mandich, Angelo Schenone, Emilia Bellone, and Marina Grandis

Subjects
Charcot–Marie–Tooth (CMT) disease, neuropathy, genetic, phenotype, Science
Abstract

Charcot–Marie–Tooth (CMT) disease is the most commonly inherited neurological disorder. This study includes patients affected by CMT during regular follow-ups at the CMT clinic in Genova, a neuromuscular university center in the northwest of Italy, with the aim of describing the genetic distribution of CMT subtypes in our cohort and reporting a peculiar phenotype. Since 2004, 585 patients (447 index cases) have been evaluated at our center, 64.9% of whom have a demyelinating neuropathy and 35.1% of whom have an axonal neuropathy. A genetic diagnosis was achieved in 66% of all patients, with the following distribution: CMT1A (48%), HNPP (14%), CMT1X (13%), CMT2A (5%), and P0-related neuropathies (7%), accounting all together for 87% of all the molecularly defined neuropathies. Interestingly, we observe a peculiar phenotype with initial exclusive lower limb involvement as well as lower limb involvement that is maintained over time, which we have defined as a “strictly length-dependent” phenotype. Most patients with this clinical presentation shared variants in either HSPB1 or MPZ genes. The identification of distinctive phenotypes such as this one may help to address genetic diagnosis. In conclusion, we describe our diagnostic experiences as a multidisciplinary outpatient clinic, combining a gene-by-gene approach or targeted gene panels based on clinical presentation.

Published
2022
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237. CSF Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barré Syndrome

Author

Al-Hakem, Helle, Doets, Alex Y, Stino, Amro Maher, Zivkovic, Sasha A, Andersen, Henning, Willison, Hugh J, Cornblath, David R, Gorson, Kenneth C, Islam, Zhahirul, Mohammad, Quazi Deen, Sindrup, Søren Hein, Kusunoki, Susumu, Davidson, Amy, Casasnovas, Carlos, Bateman, Kathleen, Miller, James A L, van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E, Arends, Samuel, Luijten, Linda W G, Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A, Shahrizaila, Nortina, Galassi, Giuliana, Pereon, Yann, Bürmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P, Marchesoni, Cintia, Sedano Tous, María J, Querol, Luis, Martín-Aguilar, Lorena, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H, Waheed, Waqar, Lehmann, Helmar C, Granit, Volkan, Stein, Beth, Samijn, Johnny P A, van Dijk, Gert W, Jacobs, Bart C, Neurology, Medical Microbiology & Infectious Diseases, Public Health, and Immunology

Subjects
Neurology (clinical)
Abstract

BACKGROUND AND OBJECTIVES: To investigate CSF findings in relation to clinical and electrodiagnostic subtypes, severity, and outcome of Guillain-Barré syndrome (GBS) based on 1,500 patients in the International GBS Outcome Study. METHODS: Albuminocytologic dissociation (ACD) was defined as an increased protein level (>0.45 g/L) in the absence of elevated white cell count (4 days 84%. High CSF protein levels were associated with a demyelinating subtype, proximal or global muscle weakness, and a reduced likelihood of being able to run at week 2 (odds ratio [OR] 0.42, 95% CI 0.25-0.70; p = 0.001) and week 4 (OR 0.44, 95% CI 0.27-0.72; p = 0.001). Patients with the Miller Fisher syndrome, distal predominant weakness, and normal or equivocal nerve conduction studies were more likely to have lower CSF protein levels. CSF cell count was

Published
2023

241. List of Contributors

Author

Andersen, Øyvind Senstad, primary, Anderson, Bonita A., additional, Appleton, Christopher P., additional, Asher, Craig R., additional, Aurigemma, Gerard P., additional, Baicu, Catalin F., additional, Beyer, Ruxandra, additional, Bhat, Pavan, additional, Bianco, Christopher Michael, additional, Borlaug, Barry A., additional, Bradshaw, Amy D., additional, Burstow, Darryl J., additional, Carasso, Shemy, additional, Cerqueira, Manuel D., additional, Chetrit, Michael, additional, Collier, Patrick, additional, DeLeon-Pennell, Kristine Y., additional, Dokainish, Hisham, additional, Flachskampf, Frank A., additional, Friedberg, Mark K., additional, Furlani, Andrea C., additional, Garcia, Mario J., additional, Gorodeski, Eiran Z., additional, Gregory, Stephen H., additional, Grimm, Richard A., additional, Ha, Jong-Won, additional, Habib, Manhal, additional, Harb, Serge C., additional, Herrera, Cesar J., additional, Hoit, Brian D., additional, Imazio, Massimo, additional, Inoue, Katsuji, additional, Jaber, Wael A., additional, Kane, Garvan C., additional, Klein, Allan L., additional, Kovell, Lara C., additional, Kwon, Deborah H., additional, Lambert, Cameron T., additional, Levine, Benjamin D., additional, LeWinter, Martin M., additional, MacNamara, James P., additional, Makkiya, Mohammed, additional, Maragiannis, Dimitrios, additional, Melenovsky, Vojtech, additional, Menick, Donald R., additional, Miranda, William R., additional, Murthy, Sandhya, additional, Nagueh, Sherif F., additional, Nakatani, Satoshi, additional, Nambiar, Lakshmi, additional, Negishi, Kazuaki, additional, Obokata, Masaru, additional, Oh, Jae K., additional, Piña, Ileana, additional, Popović, Zoran B., additional, Quinones, Miguel A., additional, Rakowski, Harry, additional, Reddy, Yogesh N.V., additional, Rodriguez, Leonardo, additional, Sarma, Satyam, additional, Schenone, Aldo L., additional, Sengupta, Partho, additional, Smiseth, Otto A., additional, Starling, Randall C., additional, Stugaard, Marie, additional, Swaminathan, Madhav, additional, Tam, Edlira, additional, Tang, W.H. Wilson, additional, Thakkar, Harsh V., additional, Thomas, James D., additional, Williams, Lynne, additional, Yaranov, Dmitry M., additional, Young, Laura, additional, and Zile, Michael R., additional

Published
2021
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246. Multimodality Imaging in Aortic Stenosis

Author

Gaznabi, Safwan, Miranda, Jeirym, Lorenzatti, Daniel, Piña, Pamela, Balasubramanian, Senthil S., Desai, Darshi, Desai, Aditya, Ho, Edwin C., Scotti, Andrea, Gongora, Carlos A., Schenone, Aldo L., Garcia, Mario J., Latib, Azeem, Parwani, Purvi, and Slipczuk, Leandro

Abstract

Current guidelines of aortic stenosis (AS) management focus on valve parameters, LV systolic dysfunction, and symptoms; however, emerging data suggest that there may be benefit of aortic valve replacement before it becomes severe by present criteria. Myocardial assessment using novel multimodality imaging techniques exhibits subclinical myocardial injury and remodeling at various stages before guideline-directed interventions, which predicts adverse outcomes. This raises the question of whether implementing serial myocardial assessment should become part of the standard appraisal, thereby identifying high-risk patients aiming to minimize adverse outcomes.

Published
2024
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247. Reduced-order modeling for cardiac electrophysiology. Application to parameter identification

Author

Boulakia, Muriel, Schenone, Elisa, and Gerbeau, Jean-Frédéric

Subjects
Mathematics - Numerical Analysis, Physics - Medical Physics
Abstract

A reduced-order model based on Proper Orthogonal Decomposition (POD) is proposed for the bidomain equations of cardiac electrophysiology. Its accuracy is assessed through electrocardiograms in various configurations, including myocardium infarctions and long-time simulations. We show in particular that a restitution curve can efficiently be approximated by this approach. The reduced-order model is then used in an inverse problem solved by an evolutionary algorithm. Some attempts are presented to identify ionic parameters and infarction locations from synthetic ECGs., Comment: No. RR-7811 (2011)

Published
2011
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250. Screening for Fabry disease in unknown origin axonal polyneuropathy: to do or not to do, this is the question!

Author

Eugenia Rota, Marina Grandis, Alessia Di Sapio, Elisabetta Ghiglione, Pietro Fiorentino, Alessandra Repetto, Claudia Giliberto, Chiara Gemelli, Nicola Morelli, Angelo Schenone, and Dario Cocito

Subjects
Fabry disease, Neuropathy, Axonal, Polyneuropathy, Lysosomal disorder, Screening, Medicine
Abstract

Abstract Fabry disease (FD) is a systemic X-linked lysosomal disorder. A ‘peripheral nerve variant’ of FD has been hypothesized in subjects with neuropathy, without the early manifestations of the classic phenotype. A cohort of undiagnosed neuropathy patients with chronic polyneuropathy of undetermined aetiology and demyelinating neuropathy, unresponsive to immunomodulating treatment, were screened for FD. A total of 103 patients (64% males), were enrolled. No typical pathogenetic mutations for FD were identified. We are aware that the study sample was very small, but only a large, unfeasible theoretical sample size could demonstrate a statistically significant increased prevalence of FD in neuropathy patients, as peripheral neuropathy of undetermined cause is uncommon and there is a low prevalence of FD in the general population. Therefore, we are of the opinion that including tailored FD screening in the neuropathy diagnostic work-up, particularly when there are additional clinical characteristics, should be considered.

Published
2020
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