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55. Cinética de degradación ruminal in situ de ensilado de rastrojo de maíz (Zea mays) con niveles crecientes de urea

Author

Sánchez Cabezas, A., Perea, J., Montenegro, L., Espinoza, I., Avellaneda-Barbarito, J. F., Barba, C., Sánchez Cabezas, A., Perea, J., Montenegro, L., Espinoza, I., Avellaneda-Barbarito, J. F., and Barba, C.

Abstract

The urea inclusion effect on the nutritional composition and kinetics of in situ ruminal digestion on maize stubble silage was studied. Four treatments were started by adding 0, 1, 2 and 3% urea to a mixture of maize stubble with 10% molasses. 128 microsilos (3 kg/unit and 4 repetitions per treatment) were made. Experimental silages were opened at 7, 14, 21, 28, 35, 42, 49 and 56 days. The content of dry matter (MS), organic matter (OM), crude protein (PB), FND and FAD were determined. In situ degradability was obtained by Mehrez and Orskov method and the degradability of MS and PB by residue analysis with Kjeldhal method. A general linear model was used for data manipulation, using the statistical package SAS (2004), as well as Contrast option and Solver function of Microsoft EXCEL®. 35-days conservation silage (p, Se estudió el efecto de la inclusión de urea sobre la composición y cinética de degradación ruminal in situ en el ensilado de rastrojo de maíz. Se partió de cuatro de tratamientos al adicionar el 0, 1, 2 y 3% de urea a una mezcla de rastrojo de maíz con el 10% de melaza. Se elaboraron 128 microsilos (3 kg/unidad y 4 repeticiones por tratamiento). La apertura de los silos se realizó a los 7, 14, 21, 28, 35, 42, 49 y 56 días. Se determinó el contenido de la materia seca (MS), materia orgánica (MO), proteína bruta (PB), FND y FAD. La degradabilidad in situ se obtuvo mediante el método de Mehrez y Orskov y la degradabilidad de MS y PB mediante el análisis de los residuos con el método Kjeldhal. Los datos se analizaron con el procedimiento GLM y el test de Tukey (P±

Published
2020

56. Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country-, center-, and age-specific variation

Author

Barba, Maria Cristina, Cross, J. H., Braun, K., Cossu, M., Klotz, K. A., De Masi, S., Perez Jimenez, M. A., Gaily, E., Specchio, N., Cabral, P., Toulouse, J., Dimova, P., Battaglia, Domenica Immacolata, Freri, E., Consales, A., Cesaroni, E., Tarta-Arsene, O., Gil-Nagel, A., Mindruta, I., Di Gennaro, G., Giulioni, M., Tisdall, M. M., Eltze, C., Tahir, M. Z., Jansen, F., van Rijen, P., Sanders, M., Tassi, L., Francione, S., Lo Russo, G., Jacobs, J., Bast, T., Matta, G., Budke, M., Fournier del Castillo, C., Metsahonkala, E. -L., Karppinen, A., Ferreira, J. C., Minkin, K., Marras, C. E., Arzimanoglou, A., Guerrini, R., Barba C., Battaglia D. (ORCID:0000-0003-0491-4021), Barba, Maria Cristina, Cross, J. H., Braun, K., Cossu, M., Klotz, K. A., De Masi, S., Perez Jimenez, M. A., Gaily, E., Specchio, N., Cabral, P., Toulouse, J., Dimova, P., Battaglia, Domenica Immacolata, Freri, E., Consales, A., Cesaroni, E., Tarta-Arsene, O., Gil-Nagel, A., Mindruta, I., Di Gennaro, G., Giulioni, M., Tisdall, M. M., Eltze, C., Tahir, M. Z., Jansen, F., van Rijen, P., Sanders, M., Tassi, L., Francione, S., Lo Russo, G., Jacobs, J., Bast, T., Matta, G., Budke, M., Fournier del Castillo, C., Metsahonkala, E. -L., Karppinen, A., Ferreira, J. C., Minkin, K., Marras, C. E., Arzimanoglou, A., Guerrini, R., Barba C., and Battaglia D. (ORCID:0000-0003-0491-4021)

Abstract

Objective: To profile European trends in pediatric epilepsy surgery (<16 years of age) between 2008 and 2015. Methods: We collected information on volumes and types of surgery, pathology, and seizure outcome from 20 recognized epilepsy surgery reference centers in 10 European countries. Results: We analyzed retrospective aggregate data on 1859 operations. The proportion of surgeries significantly increased over time (P <.0001). Engel class I outcome was achieved in 69.3% of children, with no significant improvement between 2008 and 2015. The proportion of histopathological findings consistent with glial scars significantly increased between the ages of 7 and 16 years (P for trend =.0033), whereas that of the remaining pathologies did not vary across ages. A significant increase in unilobar extratemporal surgeries (P for trend =.0047) and a significant decrease in unilobar temporal surgeries (P for trend =.0030) were observed between 2008 and 2015. Conversely, the proportion of multilobar surgeries and unrevealing magnetic resonance imaging cases remained unchanged. Invasive investigations significantly increased, especially stereo-electroencephalography. We found different trends comparing centers starting their activity in the 1990s to those whose programs were developed in the past decade. Multivariate analysis revealed a significant variability of the proportion of the different pathologies and surgical approaches across countries, centers, and age groups between 2008 and 2015. Significance: Between 2008 and 2015, we observed a significant increase in the volume of pediatric epilepsy surgeries, stability in the proportion of Engel class I outcomes, and a modest increment in complexity of the procedures.

Published
2020

63. Early clinical predictive factors during coma recovery

Author

Formisano, R., primary, Bivona, U., additional, Penta, F., additional, Giustini, M., additional, Buzzi, M. G., additional, Ciurli, P., additional, Matteis, M., additional, Barba, C., additional, Vedova, C. Della, additional, Vinicola, V., additional, and Taggi, F., additional

Published
2005
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68. Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country-, center-, and age-specific variation

Author

Barba, C., Cross, J. H., Braun, K., Cossu, M., Klotz, K. A., De Masi, S., Perez Jimenez, M. A., Gaily, E., Specchio, N., Cabral, P., Toulouse, J., Dimova, P., Battaglia, D., Freri, E., Consales, A., Cesaroni, E., Tarta-Arsene, O., Gil-Nagel, A., Mindruta, I., Di Gennaro, G., Giulioni, M., Tisdall, M. M., Eltze, C., Tahir, M. Z., Jansen, F., van Rijen, P., Sanders, M., Tassi, L., Francione, S., Lo Russo, G., Jacobs, J., Bast, T., Matta, G., Budke, M., Fournier del Castillo, C., Metsahonkala, E. -L., Karppinen, A., Ferreira, J. C., Minkin, K., Marras, C. E., Lucenteforte, E, Arzimanoglou, A., and Guerrini, R.

Subjects
0301 basic medicine, Male, medicine.medical_specialty, Multivariate analysis, Adolescent, Neurosurgery, Stereoelectroencephalography, Neurosurgical Procedures, 03 medical and health sciences, Epilepsy, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, children, Seizures, Medicine, Humans, survey, Epilepsy surgery, Preschool, Child, Retrospective Studies, medicine.diagnostic_test, business.industry, Age Factors, Magnetic resonance imaging, Retrospective cohort study, Electroencephalography, medicine.disease, Magnetic Resonance Imaging, Temporal Lobe, 3. Good health, Surgery, Europe, epilepsy surgery, histopathology, outcome, Child, Preschool, Female, Treatment Outcome, 030104 developmental biology, Neurology, Histopathology, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

OBJECTIVE: To profile European trends in pediatric epilepsy surgery (

Published
2019

70. Diagnostic implications of genetic copy number variation in epilepsy plus

Author

Coppola, A1, 2, 3, Cellini, E4, Stamberger, H5, 6, 7, Saarentaus, E8, 9, 10, Cetica, V4, Lal, D10, 11, 12, Djémié, T5, 6, Bartnik-Glaska, M13, Ceulemans, B14, Cross, JH15, 16, 17, Deconinck, T5, De Masi S7, Dorn, T18, Guerrini, R, Hoffman-Zacharska, D14, Kooy, F19, Lagae, L20, Lench, N21, Lemke, JR22, Lucenteforte, E23, Madia, F25, Mefford, HC26, Morrogh, D21, Nuernberg, P27, Palotie, A11, Schoonjans, AS15, Striano, P28, Szczepanik, E29, Tostevin, A1, 2, Vermeesch, JR30, Van Esch H30, Van Paesschen W31, Waters, JJ21, Weckhuysen, S5, 6, 12, Zara, F25, De Jonghe P5, Sisodiya, SM1, Marini, C, EuroEPINOMICS-RES, Consortium, Lehesjioki AE, EpiCNV Consortium., Craiu, D, Talvik, T, Caglayan, H, Serratosa, J, Sterbova, K, Møller, Rs, Hjalgrim, H, Lerche, H, Weber, Y, Helbig, I, von Spiczak, S, Barba, C, Bogaerts, A, Boni, A, Galizia, Ec, Chiari, S, Di Gacomo, G, Ferrari, A, Garducci, S, Giglio, S, Holmgren, P, Leu, C, Melani, F, Novara, F, Pantaleo, M, Peeters, E, Pisano, T, Rosati, A, Sander, J, Schoeler, N, Stankiewicz, P, Striano, S, Suls, A, Traverso, M, Vandeweyer, G, Van Dijck, A, and Zuffardi, O.

Subjects
epilepsy
Published
2019

71. Diagnostic implications of genetic copy number variation in epilepsy plus

Author

Coppola, A., Cellini, E., Stamberger, H., Saarentaus, E., Cetica, V., Lal, D., Djemie, T., Bartnik-Glaska, M., Ceulemans, B., Helen Cross, J., Deconinck, T., Masi, S. D., Dorn, T., Guerrini, R., Hoffman-Zacharska, D., Kooy, F., Lagae, L., Lench, N., Lemke, J. R., Lucenteforte, E., Madia, F., Mefford, H. C., Morrogh, D., Nuernberg, P., Palotie, A., Schoonjans, A. -S., Striano, P., Szczepanik, E., Tostevin, A., Vermeesch, J. R., Van Esch, H., Van Paesschen, W., Waters, J. J., Weckhuysen, S., Zara, F., Jonghe, P. D., Sisodiya, S. M., Marini, C., Lehesjioki, A. -E., Craiu, D., Talvik, T., Caglayan, H., Serratosa, J., Sterbova, K., Moller, R. S., Hjalgrim, H., Lerche, H., Weber, Y., Helbig, I., von Spiczak, S., Barba, C., Bogaerts, A., Boni, A., Galizia, E. C., Chiari, S., Di Gacomo, G., Ferrari, A., Guarducci, S., Giglio, S., Holmgren, P., Leu, C., Melani, F., Novara, F., Pantaleo, M., Peeters, E., Pisano, T., Rosati, A., Sander, J., Schoeler, N., Stankiewicz, P., Striano, S., Suls, A., Traverso, M., Vandeweyer, G., Van Dijck, A., Zuffardi, O., Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo, Cetica, Valentina, Lal, Denni, Djémié, Tania, Bartnik-Glaska, Magdalena, Ceulemans, Berten, Helen Cross, J., Deconinck, Tine, Masi, Salvatore De, Dorn, Thoma, Guerrini, Renzo, Hoffman-Zacharska, Dorotha, Kooy, Frank, Lagae, Lieven, Lench, Nichola, Lemke, Johannes R., Lucenteforte, Ersilia, Madia, Francesca, Mefford, Heather C., Morrogh, Deborah, Nuernberg, Peter, Palotie, Aarno, Schoonjans, An-Sofie, Striano, Pasquale, Szczepanik, Elzbieta, Tostevin, Anna, Vermeesch, Joris R., Van Esch, Hilde, Van Paesschen, Wim, Waters, Jonathan J, Weckhuysen, Sarah, Zara, Federico, Jonghe, Peter De, Sisodiya, Sanjay M., Marini, Carla, Lehesjioki, Anna-Elina, Craiu, Dana, Talvik, Tiina, Caglayan, Hande, Serratosa, Jose, Sterbova, Katalin, Møller, Rikke S., Hjalgrim, Helle, Lerche, Holger, Weber, Yvonne, Helbig, Ingo, von Spiczak, Sarah, Barba, Carmen, Bogaerts, Anneleen, Boni, Antonella, Galizia, Elisabeth Caruana, Chiari, Sara, Di Gacomo, Gianpiero, Ferrari, Annarita, Guarducci, Silvia, Giglio, Sabrina, Holmgren, Philip, Leu, Costin, Melani, Federico, Novara, Francesca, Pantaleo, Marilena, Peeters, Elke, Pisano, Tiziana, Rosati, Anna, Sander, Josemir, Schoeler, Natasha, Stankiewicz, Pawel, Striano, Salvatore, Suls, Arvid, Traverso, Monica, Vandeweyer, Geert, Van Dijck, Anke, and Zuffardi, Orsetta

Subjects
epilepsy gene, Epilepsy, DNA Copy Number Variations, Genotype, Comorbidity, array CGH, copy number variants, epilepsy genes, SNP array, Phenotype, Neurology, mental disorders, Full‐length Original Research, Humans, copy number variant, Genetic Predisposition to Disease, Neurology (clinical)
Abstract

Summary Objective Copy number variations (CNVs) represent a significant genetic risk for several neurodevelopmental disorders including epilepsy. As knowledge increases, reanalysis of existing data is essential. Reliable estimates of the contribution of CNVs to epilepsies from sizeable populations are not available. Methods We assembled a cohort of 1255 patients with preexisting array comparative genomic hybridization or single nucleotide polymorphism array based CNV data. All patients had “epilepsy plus,” defined as epilepsy with comorbid features, including intellectual disability, psychiatric symptoms, and other neurological and nonneurological features. CNV classification was conducted using a systematic filtering workflow adapted to epilepsy. Results Of 1097 patients remaining after genetic data quality control, 120 individuals (10.9%) carried at least one autosomal CNV classified as pathogenic; 19 individuals (1.7%) carried at least one autosomal CNV classified as possibly pathogenic. Eleven patients (1%) carried more than one (possibly) pathogenic CNV. We identified CNVs covering recently reported (HNRNPU) or emerging (RORB) epilepsy genes, and further delineated the phenotype associated with mutations of these genes. Additional novel epilepsy candidate genes emerge from our study. Comparing phenotypic features of pathogenic CNV carriers to those of noncarriers of pathogenic CNVs, we show that patients with nonneurological comorbidities, especially dysmorphism, were more likely to carry pathogenic CNVs (odds ratio = 4.09, confidence interval = 2.51‐6.68; P = 2.34 × 10−9). Meta‐analysis including data from published control groups showed that the presence or absence of epilepsy did not affect the detected frequency of CNVs. Significance The use of a specifically adapted workflow enabled identification of pathogenic autosomal CNVs in 10.9% of patients with epilepsy plus, which rose to 12.7% when we also considered possibly pathogenic CNVs. Our data indicate that epilepsy with comorbid features should be considered an indication for patients to be selected for a diagnostic algorithm including CNV detection. Collaborative large‐scale CNV reanalysis leads to novel declaration of pathogenicity in unexplained cases and can promote discovery of promising candidate epilepsy genes.

Published
2019

87. Individualized prediction of seizure relapse and outcomes following antiepileptic drug withdrawal after pediatric epilepsy surgery

Author

Diagnostiek & Vroege Psychose Medisch, In Vivo NMR ISI, ZL Kinder Ner en Nec Medisch, Brain, Opleiding Neurologie, Cardiovasculaire Epi Team 4, Circulatory Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Zorglijn FNE Medisch, Lamberink, Herm J., Boshuisen, Kim, Otte, Willem M., Geleijns, Karin, Braun, K. P.J., Feucht, M., Gröppel, G., Kahane, P., Minotti, L., Arzimanoglou, A., Ryvlin, P., Panagiotakaki, E., de Bellescize, J., Ostrowsky-Coste, K., Hirsch, E., Valenti, M., Polster, T., Sassen, R., Hoppe, C., Kuczaty, S., Elger, C., Schubert, S., Strobl, K., Bast, T., Barba, C., Guerrini, R., Giordano, F., Francione, S., Caputo, D., Boshuisen, K., Uiterwaal, C. S.P.M., van Nieuwenhuizen, O., Leijten, F. S., van Rijen, P. C., Seeck, M., Yalnizoglu, D., Turanli, G., Topcu, M., Özkara, C., Uzan, M., Cross, J. H., D'Argenzio, L., Harkness, W., the TimeToStop Study Group, Diagnostiek & Vroege Psychose Medisch, In Vivo NMR ISI, ZL Kinder Ner en Nec Medisch, Brain, Opleiding Neurologie, Cardiovasculaire Epi Team 4, Circulatory Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Zorglijn FNE Medisch, Lamberink, Herm J., Boshuisen, Kim, Otte, Willem M., Geleijns, Karin, Braun, K. P.J., Feucht, M., Gröppel, G., Kahane, P., Minotti, L., Arzimanoglou, A., Ryvlin, P., Panagiotakaki, E., de Bellescize, J., Ostrowsky-Coste, K., Hirsch, E., Valenti, M., Polster, T., Sassen, R., Hoppe, C., Kuczaty, S., Elger, C., Schubert, S., Strobl, K., Bast, T., Barba, C., Guerrini, R., Giordano, F., Francione, S., Caputo, D., Boshuisen, K., Uiterwaal, C. S.P.M., van Nieuwenhuizen, O., Leijten, F. S., van Rijen, P. C., Seeck, M., Yalnizoglu, D., Turanli, G., Topcu, M., Özkara, C., Uzan, M., Cross, J. H., D'Argenzio, L., Harkness, W., and the TimeToStop Study Group

Published
2018

88. Corrigendum to “Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study” [Epilepsy Behav. Oct 2017; 75C:151-157](S1525505017304961)(10.1016/j.yebeh.2017.08.010)

Author

Barba, Maria Cristina, Specchio, N., Guerrini, R., Tassi, L., Demasi, S., Cardinale, F., Pellacani, S., De Palma, L., Battaglia, Domenica Immacolata, Tamburrini, Gianpiero, Didato, G., Freri, E., Consales, A., Nozza, P., Zamponi, N., Cesaroni, E., Di Gennaro, G., Esposito, V., Giulioni, M., Tinuper, P., Colicchio, G., Rocchi, R., Rubboli, G., Giordano, F., Russo, G. L., Marras, C. E., Cossu, M., Barba C., Battaglia D. (ORCID:0000-0003-0491-4021), Tamburrini G. (ORCID:0000-0002-7139-5711), Barba, Maria Cristina, Specchio, N., Guerrini, R., Tassi, L., Demasi, S., Cardinale, F., Pellacani, S., De Palma, L., Battaglia, Domenica Immacolata, Tamburrini, Gianpiero, Didato, G., Freri, E., Consales, A., Nozza, P., Zamponi, N., Cesaroni, E., Di Gennaro, G., Esposito, V., Giulioni, M., Tinuper, P., Colicchio, G., Rocchi, R., Rubboli, G., Giordano, F., Russo, G. L., Marras, C. E., Cossu, M., Barba C., Battaglia D. (ORCID:0000-0003-0491-4021), and Tamburrini G. (ORCID:0000-0002-7139-5711)

Abstract

The authors regret to inform that one of the co-author “Simona Pellacani” is affiliated to IRCCS Stella Maris, Pisa, Italy The authors would like to apologize for any inconvenience caused.

Published
2018

89. Experiences obtained in the application of SWOT analysis in Economy of Livestock Production

Author

Barba, C., Angón, E., Perea, J., Cabello, A., García, A., and Otros

Subjects
Empresa agropecuaria, 3109 Ciencias Veterinarias, Asesoramiento técnico, Éxito/fracaso, Veterinaria, Toma de decisiones
Abstract

Resúmenes IV Congreso VetDoc de Docencia Veterinaria, León 2017 (6-7 de Julio) [ES] En el presente trabajo se analiza la capacidad de los estudiantes en recopilación de información, análisis de datos y trabajo en equipo para abordar la realización de análisis estratégico en empresas ganaderas y propuestas de resolución de problemas y mejoras factibles.

Published
2017

90. Development of veterinarian dynamic skills through training in heliciculture. Case of the entrepreneurship in Diputación de Córdoba

Author

Angón, E., Pablos, C. de, Barba, C., Cabello, A., Aragón, M., Perea, J., García, A., and Otros

Subjects
Innovación, Dirección estratégica, 3109 Ciencias Veterinarias, Veterinaria, Bioeconomía, Toma de decisiones
Abstract

Resúmenes IV Congreso VetDoc de Docencia Veterinaria, León 2017 (6-7 de Julio) [ES] El objetivo de este estudio de innovación docente e investigación es desarrollar las capacidades dinámicas del alumno de veterinaria a partir de la formación en el emprendimiento en la actividad helicícola y tomando como unidad de aprendizaje los microemprendimientos desarrollados en la Diputación de Córdoba.

Published
2017

92. Caracterización genética del porcino Criollo de Ecuador.

Author

Estupiñan, K., Barba, C., Martínez, A., and Delgado, J. V.

Subjects
*MOUNTAIN animals, *GERMPLASM, *GENETIC distance, *MICROSATELLITE repeats, *HETEROZYGOSITY, *ANIMAL diversity, *RURAL population
Abstract

Ecuador is a country with a high biodiversity of animal genetic resources of agri-food interest, although scientific information on them is scarce. This work aims is the study of the genetic diversity of Creole pigs in the Planning Zone Five of Ecuador, integrated by the provinces of Bolívar, Guayas, Los Ríos and Santa Elena. There, this population plays a fundamental role in rural communities as the main source of protein for the family unit and as a source of complementary income in traditional production systems. Ninety samples are analyzed with 25 microsatellites recommended by the FAO for studies of porcine genetic diversity. Parameters of genetic variability are calculated (mean number of alleles, effective number of alleles, heterozygosity, PIC and FIS coefficient). Individual DSA genetic distances are calculated and a dendrogram is constructed. The studied Ecuadorian pig shows a high in-breed genetic diversity and it do not deviate significantly from the Hardy-Weinberg equilibrium. No genetic differentiation is detected between the pigs sampled in the different provinces, so it could be managed as a single population. [ABSTRACT FROM AUTHOR]

Published
2020
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93. Efecto del tamaño de las reproductoras en la producción de alevines de Cichlasoma festae en condiciones semicontroladas en Ecuador.

Author

Rodríguez, J., González, A., Angón, E., Vivas, R., Barba, C., González, M. A., Peña, F., and García, A.

Abstract

Copyright of Informacion Tecnica Economica Agraria is the property of Asociacion Interprofesional para el Desarrollo Agrario (AIDA) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2020

96. Histopathological findings in brain tissue obtained during epilepsy surgery

Author

Blümcke, I., Spreafico, R., Haaker, G., Coras, R., Kobow, K., Bien, C.G., Pfäfflin, M., Elger, C., Widman, G., Schramm, J., Becker, A., Braun, K.P.J., Leijten, F.S.S., Baayen, J.C., Aronica, E., Chassoux, F., Hamer, H., Stefan, H., Rössler, K., Thom, M., Walker, M.C., Sisodiya, S.M., Duncan, J.S., McEvoy, A.W., Pieper, T., Holthausen, H., Kudernatsch, M., Meencke, H.J., Kahane, P., Schulze-Bonhage, A., Zentner, J., Heiland, D., Urbach, H., Steinhoff, B.J., Bast, T., Tassi, L., Lo Russo, G., Ozkara, C., Oz, B., Krsek, P., Vogelgesang, S., Runge, U., Lerche, H., Weber, Y., Honavar, M., Pimentel, J., Arzimanoglou, A., Ulate-Campos, A., Noachtar, S., Hartl, E., Schijns, O.E.M.G., Guerrini, R., Barba, C., Jacques, T.S., Cross, J.H., Feucht, M., Mühlebner, A., Grunwald, T., Trinka, E., Winkler, P.A., Gil-Nagel, A., Toledano Delgado, R., Mayer, T., Lutz, M., Zountsas, B., Garganis, K., Rosenow, F., Hermsen, A., Örtzen, T.J. von, Diepgen, T.L., Avanzini, G., Aparicio, J., Bento, C., Beckervordersandforth, J., Buccoliero, A.M., Cabral, P., Chamadoira, C., Colon, A.J., Chabardès, S., Carpenter, S., Czech, T., Dressler, A., Deleo, F., Dílio, A., Dings, J., Devaux, B., De Tisi, J., De Bellescize, J., Ebner, A., Franke, K., Groeppel, G., Giordano, F., Gozzo, F., Garbelli, R., Guenot, M., García‐Morales, I., Gómez‐Angulo, J.C., Garcia, G., Hainfellner, J.A., Höfler, J., Hoogland, G., Hendriks, M.P.H., Hofman, P., Harding, B., Huppertz, H.J., Herms, J., Hilkman, D.M.W., Hamelin, S., Idema, S., Jansen, F.E., Jahodova, A., Keeley, A., Kalss, G., Kudr, M., Kroell, J., Kokkinos, V., Keo Kosal, P., Kalbhenn, T., Leitinger, M., Landré, E., Melo Pires, M., Matas, A., Mann, M.W., Ostrowsky‐Coste, K., Prinz, M., Puttinger, G., Peraud, A., Rangel Pinho, R., Romero, C., Rego, R., Rouhl, R.P.W., Ryvlin, P., Rumia, J., Rampp, S., Scholl, T., Schulz, R., Stone, T.J., Streichenberger, N., Tisdall, M., Turak, B., Taipa, R., Uzan, M., Kranen‐Mastenbroek, V. van, Varlet, P., Vlooswijk, M.C.G., Wagner, L., Weis, S., Blümcke, I., Spreafico, R., Haaker, G., Coras, R., Kobow, K., Bien, C.G., Pfäfflin, M., Elger, C., Widman, G., Schramm, J., Becker, A., Braun, K.P.J., Leijten, F.S.S., Baayen, J.C., Aronica, E., Chassoux, F., Hamer, H., Stefan, H., Rössler, K., Thom, M., Walker, M.C., Sisodiya, S.M., Duncan, J.S., McEvoy, A.W., Pieper, T., Holthausen, H., Kudernatsch, M., Meencke, H.J., Kahane, P., Schulze-Bonhage, A., Zentner, J., Heiland, D., Urbach, H., Steinhoff, B.J., Bast, T., Tassi, L., Lo Russo, G., Ozkara, C., Oz, B., Krsek, P., Vogelgesang, S., Runge, U., Lerche, H., Weber, Y., Honavar, M., Pimentel, J., Arzimanoglou, A., Ulate-Campos, A., Noachtar, S., Hartl, E., Schijns, O.E.M.G., Guerrini, R., Barba, C., Jacques, T.S., Cross, J.H., Feucht, M., Mühlebner, A., Grunwald, T., Trinka, E., Winkler, P.A., Gil-Nagel, A., Toledano Delgado, R., Mayer, T., Lutz, M., Zountsas, B., Garganis, K., Rosenow, F., Hermsen, A., Örtzen, T.J. von, Diepgen, T.L., Avanzini, G., Aparicio, J., Bento, C., Beckervordersandforth, J., Buccoliero, A.M., Cabral, P., Chamadoira, C., Colon, A.J., Chabardès, S., Carpenter, S., Czech, T., Dressler, A., Deleo, F., Dílio, A., Dings, J., Devaux, B., De Tisi, J., De Bellescize, J., Ebner, A., Franke, K., Groeppel, G., Giordano, F., Gozzo, F., Garbelli, R., Guenot, M., García‐Morales, I., Gómez‐Angulo, J.C., Garcia, G., Hainfellner, J.A., Höfler, J., Hoogland, G., Hendriks, M.P.H., Hofman, P., Harding, B., Huppertz, H.J., Herms, J., Hilkman, D.M.W., Hamelin, S., Idema, S., Jansen, F.E., Jahodova, A., Keeley, A., Kalss, G., Kudr, M., Kroell, J., Kokkinos, V., Keo Kosal, P., Kalbhenn, T., Leitinger, M., Landré, E., Melo Pires, M., Matas, A., Mann, M.W., Ostrowsky‐Coste, K., Prinz, M., Puttinger, G., Peraud, A., Rangel Pinho, R., Romero, C., Rego, R., Rouhl, R.P.W., Ryvlin, P., Rumia, J., Rampp, S., Scholl, T., Schulz, R., Stone, T.J., Streichenberger, N., Tisdall, M., Turak, B., Taipa, R., Uzan, M., Kranen‐Mastenbroek, V. van, Varlet, P., Vlooswijk, M.C.G., Wagner, L., and Weis, S.

Abstract

Item does not contain fulltext, Background: Detailed neuropathological information on the structural brain lesions underlying seizures is valuable for understanding drug-resistant focal epilepsy. Methods: We report the diagnoses made on the basis of resected brain specimens from 9523 patients who underwent epilepsy surgery for drug-resistant seizures in 36 centers from 12 European countries over 25 years. Histopathological diagnoses were determined through examination of the specimens in local hospitals (41%) or at the German Neuropathology Reference Center for Epilepsy Surgery (59%). Results: The onset of seizures occurred before 18 years of age in 75.9% of patients overall, and 72.5% of the patients underwent surgery as adults. The mean duration of epilepsy before surgical resection was 20.1 years among adults and 5.3 years among children. The temporal lobe was involved in 71.9% of operations. There were 36 histopathological diagnoses in seven major disease categories. The most common categories were hippocampal sclerosis, found in 36.4% of the patients (88.7% of cases were in adults), tumors (mainly ganglioglioma) in 23.6%, and malformations of cortical development in 19.8% (focal cortical dysplasia was the most common type, 52.7% of cases of which were in children). No histopathological diagnosis could be established for 7.7% of the patients. Conclusions: In patients with drug-resistant focal epilepsy requiring surgery, hippocampal sclerosis was the most common histopathological diagnosis among adults, and focal cortical dysplasia was the most common diagnosis among children. Tumors were the second most common lesion in both groups. (Funded by the European Union and others.)

Published
2017

97. Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

Author

Parrini, E., Marini, C., Mei, D., Galuppi, A., Cellini, E., Pucatti, D., Chiti, L., Rutigliano, D., Bianchini, C., Virdo, S., De Vita, D., Bigoni, S., Barba, C., Mari, F., Montomoli, M., Pisano, T., Rosati, A., Guerrini, R., Accorsi, P., Ardissone, A., Battaglia, Domenica Immacolata, Bertani, G., Borgarello, G., Cesaroni, E., Chiari, S., Cordelli, D. M., Doccini, V., Donati, I., Fontana, E., Fusco, C., Gentile, M., Giordano, L., Jacinto, S., Leuzzi, V., Mangano, S., Mastrangelo, M., Melani, F., Obino, L., Offer, C., Pruna, D., Ragona, F., Ricciardelli, P., Salandin, M., Saporoso, A., Sicca, F., Specchio, N., Sterebova, K., Battaglia D. (ORCID:0000-0003-0491-4021), Parrini, E., Marini, C., Mei, D., Galuppi, A., Cellini, E., Pucatti, D., Chiti, L., Rutigliano, D., Bianchini, C., Virdo, S., De Vita, D., Bigoni, S., Barba, C., Mari, F., Montomoli, M., Pisano, T., Rosati, A., Guerrini, R., Accorsi, P., Ardissone, A., Battaglia, Domenica Immacolata, Bertani, G., Borgarello, G., Cesaroni, E., Chiari, S., Cordelli, D. M., Doccini, V., Donati, I., Fontana, E., Fusco, C., Gentile, M., Giordano, L., Jacinto, S., Leuzzi, V., Mangano, S., Mastrangelo, M., Melani, F., Obino, L., Offer, C., Pruna, D., Ragona, F., Ricciardelli, P., Salandin, M., Saporoso, A., Sicca, F., Specchio, N., Sterebova, K., and Battaglia D. (ORCID:0000-0003-0491-4021)

Abstract

Targeted resequencing gene panels are used in the diagnostic setting to identify gene defects in epilepsy. We performed targeted resequencing using a 30-genes panel and a 95-genes panel in 349 patients with drug-resistant epilepsies beginning in the first years of life. We identified 71 pathogenic variants, 42 of which novel, in 30 genes, corresponding to 20.3% of the probands. In 66% of mutation positive patients, epilepsy onset occurred before the age of 6 months. The 95-genes panel allowed a genetic diagnosis in 22 (6.3%) patients that would have otherwise been missed using the 30-gene panel. About 50% of mutations were identified in genes coding for sodium and potassium channel components. SCN2A was the most frequently mutated gene followed by SCN1A, KCNQ2, STXBP1, SCN8A, CDKL5, and MECP2. Twenty-nine mutations were identified in 23 additional genes, most of them recently associated with epilepsy. Our data show that panels targeting about 100 genes represent the best cost-effective diagnostic option in pediatric drug-resistant epilepsies. They enable molecular diagnosis of atypical phenotypes, allowing to broaden phenotype–genotype correlations. Molecular diagnosis might influence patients' management and translate into better and specific treatment recommendations in some conditions.

Published
2017

98. Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study

Author

Barba, Maria Cristina, Specchio, N., Guerrini, R., Tassi, L., De Masi, Salvatore, Cardinale, F., Pellacani, S., De Palma, L., Battaglia, Domenica Immacolata, Tamburrini, Gianpiero, Didato, G., Freri, E., Consales, A., Nozza, P., Zamponi, N., Cesaroni, E., Di Gennaro, G., Esposito, V., Giulioni, M., Tinuper, P., Colicchio, G., Rocchi, R., Rubboli, G., Giordano, F., Russo, G. L., Marras, C. E., Cossu, M., Barba C., De Masi S., Battaglia D. (ORCID:0000-0003-0491-4021), Tamburrini G. (ORCID:0000-0002-7139-5711), Barba, Maria Cristina, Specchio, N., Guerrini, R., Tassi, L., De Masi, Salvatore, Cardinale, F., Pellacani, S., De Palma, L., Battaglia, Domenica Immacolata, Tamburrini, Gianpiero, Didato, G., Freri, E., Consales, A., Nozza, P., Zamponi, N., Cesaroni, E., Di Gennaro, G., Esposito, V., Giulioni, M., Tinuper, P., Colicchio, G., Rocchi, R., Rubboli, G., Giordano, F., Russo, G. L., Marras, C. E., Cossu, M., Barba C., De Masi S., Battaglia D. (ORCID:0000-0003-0491-4021), and Tamburrini G. (ORCID:0000-0002-7139-5711)

Abstract

Objective The objective of the study was to assess common practice in pediatric epilepsy surgery in Italy between 2008 and 2014. Methods A survey was conducted among nine Italian epilepsy surgery centers to collect information on presurgical and postsurgical evaluation protocols, volumes and types of surgical interventions, and etiologies and seizure outcomes in pediatric epilepsy surgery between 2008 and 2014. Results Retrospective data on 527 surgical procedures were collected. The most frequent surgical approaches were temporal lobe resections and disconnections (133, 25.2%) and extratemporal lesionectomies (128, 24.3%); the most frequent etiologies were FCD II (107, 20.3%) and glioneuronal tumors (105, 19.9%). Volumes of surgeries increased over time independently from the age at surgery and the epilepsy surgery center. Engel class I was achieved in 73.6% of patients (range: 54.8 to 91.7%), with no significant changes between 2008 and 2014. Univariate analyses showed a decrease in the proportion of temporal resections and tumors and an increase in the proportion of FCDII, while multivariate analyses revealed an increase in the proportion of extratemporal surgeries over time. A higher proportion of temporal surgeries and tumors and a lower proportion of extratemporal and multilobar surgeries and of FCD were observed in low (< 50 surgeries/year) versus high-volume centers. There was a high variability across centers concerning pre- and postsurgical evaluation protocols, depending on local expertise and facilities. Significance This survey reveals an increase in volume and complexity of pediatric epilepsy surgery in Italy between 2008 and 2014, associated with a stable seizure outcome.

Published
2017

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