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618 results on '"Fried, I."'

1. Callosal transmission time before and after partial commissurotomy

Author

Iacoboni, M., Fried, I., and Zaidel, E.

Subjects
Neuroscience: Neuroanatomy, Neuroscience: Neurology, Neuroscience: Neuropsychology, Neuroanatomy, Neurology, Neuropsychology
Abstract

Interhemispheric transmission time was measured in a patient before and after partial commissurotomy sparing the splenium of the corpus callosum. The transmission time was measured using a simple reaction time paradigm with unimanual responses to lateralized flashes at 4 and 8 degrees of eccentricity. Post-operative transfer time was longer than pre-operative transfer time at 8 degrees but not at 4 degrees of eccentricity. These data do not support the notion that the callosal transfer time is always faster through motor rather than visual fibers. They rather suggest that the callosal transfer time through visual fibers is longer than the callosal transfer time through motor fibers only for flashes at large eccentricities.

Published
1994

3. Neuronal Shot Noise and Brownian $1/f^2$ Behavior in the Local Field Potential

Author

Milstein, J. N., Mormann, F., Fried, I., and Koch, C.

Subjects
Quantitative Biology - Neurons and Cognition
Abstract

We demonstrate that human electrophysiological recordings of the local field potential (LFP) from intracranial electrodes, acquired from a variety of cerebral regions, show a ubiquitous $1/f^2$ scaling within the power spectrum. We develop a quantitative model that treats the generation of these fields in an analogous way to that of electronic shot noise, and use this model to specifically address the cause of this $1/f^2$ Brownian noise. The model gives way to two analytically tractable solutions, both displaying Brownian noise: 1) uncorrelated cells that display sharp initial activity, whose extracellular fields slowly decay and 2) rapidly firing, temporally correlated cells that generate UP-DOWN states.

Published
2008
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4. Hautmetastasen viszeraler Karzinome

Author

Massone, C., Fried, I., Requena, L., Cerroni, L., Cerroni, Lorenzo, editor, Garbe, Claus, editor, Metze, Dieter, editor, Kutzner, Heinz, editor, and Kerl, Helmut, editor

Published
2016
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5. Merkelzellkarzinom

Author

Fried, I., Becker, J., Cerroni, L., Cerroni, Lorenzo, editor, Garbe, Claus, editor, Metze, Dieter, editor, Kutzner, Heinz, editor, and Kerl, Helmut, editor

Published
2016
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6. Pannikulitis

Author

Requena, L., Fried, I., Cerroni, Lorenzo, editor, Garbe, Claus, editor, Metze, Dieter, editor, Kutzner, Heinz, editor, and Kerl, Helmut, editor

Published
2016
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18. Ultra-fine frequency tuning revealed in single neurons of human auditory cortex

Author

Bitterman, Y., Mukamel, R., Malach, R., Fried, I., and Nelken, I.

Subjects
Neurons -- Physiological aspects -- Research, Auditory cortex -- Physiological aspects -- Research, Sound-waves -- Research -- Physiological aspects, Environmental issues, Science and technology, Zoology and wildlife conservation, Physiological aspects, Research
Abstract

Author(s): Y. Bitterman [1, 2]; R. Mukamel [3, 4]; R. Malach [5]; I. Fried (corresponding author) [4, 6]; I. Nelken (corresponding author) [1, 2] Just-noticeable differences of physical parameters are [...]

Published
2008
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20. Invariant visual representation by single neurons in the human brain

Author

Quiroga, R. Quian, Reddy, L., Kreiman, G., Koch, C., and Fried, I.

Subjects
Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Author(s): R. Quian Quiroga (corresponding author) [1, 2, 5]; L. Reddy [1]; G. Kreiman [3]; C. Koch [1]; I. Fried [2, 4] It takes a fraction of a second to [...]

Published
2005
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25. Germline mutations in BAP1 predispose to melanocytic tumors: P127

Author

Wiesner, T., Obenauf, A. C., Murali, R., Fried, I., Griewank, K. G., Ulz, P., Windpassinger, C., Wackernagel, W., Loy, S., Wolf, I., Viale, A., Lash, A. E., Pirun, M., Socci, N. D., Rütten, A., Palmedo, G., Abramson, D., Offit, K., Ott, A., Becker, J. C., Cerroni, L., Kutzner, H., Bastian, B. C., and Speicher, M. R.

Published
2012

30. Alterations in ALK/ROS1/NTRK/MET drive a group of infantile hemispheric gliomas.

Author

Guerreiro Stucklin, AS, Ryall, S, Fukuoka, K, Zapotocky, M, Lassaletta, A, Li, C, Bridge, T, Kim, B, Arnoldo, A, Kowalski, PE, Zhong, Y, Johnson, M, Ramani, AK, Siddaway, R, Nobre, LF, de Antonellis, P, Dunham, C, Cheng, S, Boué, DR, Finlay, JL, Coven, SL, de Prada, I, Perez-Somarriba, M, Faria, CC, Grotzer, MA, Rushing, E, Sumerauer, D, Zamecnik, J, Krskova, L, Garcia Ariza, M, Cruz, O, Morales La Madrid, A, Solano, P, Terashima, K, Nakano, Y, Ichimura, K, Nagane, M, Sakamoto, H, Gil-da-Costa, MJ, Silva, R, Johnston, DL, Michaud, J, Wilson, B, van Landeghem, FKH, Oviedo, A, McNeely, PD, Crooks, B, Fried, I, Zhukova, N, Hansford, JR, Nageswararao, A, Garzia, L, Shago, M, Brudno, M, Irwin, MS, Bartels, U, Ramaswamy, V, Bouffet, E, Taylor, MD, Tabori, U, Hawkins, C, Guerreiro Stucklin, AS, Ryall, S, Fukuoka, K, Zapotocky, M, Lassaletta, A, Li, C, Bridge, T, Kim, B, Arnoldo, A, Kowalski, PE, Zhong, Y, Johnson, M, Ramani, AK, Siddaway, R, Nobre, LF, de Antonellis, P, Dunham, C, Cheng, S, Boué, DR, Finlay, JL, Coven, SL, de Prada, I, Perez-Somarriba, M, Faria, CC, Grotzer, MA, Rushing, E, Sumerauer, D, Zamecnik, J, Krskova, L, Garcia Ariza, M, Cruz, O, Morales La Madrid, A, Solano, P, Terashima, K, Nakano, Y, Ichimura, K, Nagane, M, Sakamoto, H, Gil-da-Costa, MJ, Silva, R, Johnston, DL, Michaud, J, Wilson, B, van Landeghem, FKH, Oviedo, A, McNeely, PD, Crooks, B, Fried, I, Zhukova, N, Hansford, JR, Nageswararao, A, Garzia, L, Shago, M, Brudno, M, Irwin, MS, Bartels, U, Ramaswamy, V, Bouffet, E, Taylor, MD, Tabori, U, and Hawkins, C

Abstract

Infant gliomas have paradoxical clinical behavior compared to those in children and adults: low-grade tumors have a higher mortality rate, while high-grade tumors have a better outcome. However, we have little understanding of their biology and therefore cannot explain this behavior nor what constitutes optimal clinical management. Here we report a comprehensive genetic analysis of an international cohort of clinically annotated infant gliomas, revealing 3 clinical subgroups. Group 1 tumors arise in the cerebral hemispheres and harbor alterations in the receptor tyrosine kinases ALK, ROS1, NTRK and MET. These are typically single-events and confer an intermediate outcome. Groups 2 and 3 gliomas harbor RAS/MAPK pathway mutations and arise in the hemispheres and midline, respectively. Group 2 tumors have excellent long-term survival, while group 3 tumors progress rapidly and do not respond well to chemoradiation. We conclude that infant gliomas comprise 3 subgroups, justifying the need for specialized therapeutic strategies.

Published
2019

31. «L’insegnamento di Trieste», in La scatola a sorpresa. Studi e poesie per Maria Antonietta Grignani, a cura di G. Mattarucco, M. Quaglino, C. Riccardi, S. Tamiozzo Goldmann, Firenze, Cesati, 2016, pp. 261-267

Author

Lorenzini, N., Mauceri, A., Puppa, P., Fried, I., Benzoni, P., Cadioli, A., Milone, F., Frasca, G., Baranelli, L., Mclaughlin, M., Mortara Garavelli, B., Mattarucco, G., Ricci, L., Previtera, L., Coletti, V., Dardano, M., Luperini, R., Sprete, S. Prete A., Cipollone, A., Caruso, C., Riccardi, C., Trifone, P., Lezza, A., Maraschio, N., Borutti, S., Avalle, S., Civai, M., Rimoldi, A., Barzanti, R., Giannelli, E., Klange Addabbo, B., Tamiozzo Goldmann, S., Boccardo, G. B., Volpi, M., Ottonieri, T., Lavezzi, G., Trotta, N., Quaglino, M., Bonsi, C., Scabia, G., Bertone, G., Gallia, A., Beccaria, G. L., Mengaldo, P. V., Pregliasco, M., Lenzini, L., Tonelli, N., Arnaldi, M., Valduga, P., Pusterla, F., Agosti, S., Buffoni, F., Dal Bianco, S., Fiori, U., Fo, A., Grasso, S., Insana, J., Porro, M., Testa, E., Abbiati, M., CIOCIOLA, CLAUDIO, Lorenzini N., Mauceri A., Puppa P., Fried I., Benzoni P., Cadioli A., Milone F., Frasca G., Baranelli L., McLaughlin M., Mortara Garavelli B., Mattarucco G., Ricci L., Previtera L., Coletti V., Dardano M., Luperini R., S.Prete A., Cipollone A., Caruso C., Riccardi C., Trifone P., Lezza A., Maraschio N., Borutti S., Avalle S., Civai M., Rimoldi A., Barzanti R., Giannelli E., Klange Addabbo B., Ciociola C., Tamiozzo Goldmann S., Boccardo G. B., Volpi M., Ottonieri T., Lavezzi G., Trotta N., Quaglino M., Bonsi C., Scabia G., Bertone G., Gallia A., Beccaria G. L., Mengaldo P. V., Pregliasco M., Lenzini L., Tonelli N., Arnaldi M., Valduga P., Pusterla F., Agosti S., Buffoni F., Dal Bianco S., Fiori U., Fo A., Grasso S., Insana J., Porro M., Testa E., Abbiati M., Mattarucco G., Quaglino M., Riccardi M., Tamiozzo Goldmann S., Lorenzini, N., Mauceri, A., Puppa, P., Fried, I., Benzoni, P., Cadioli, A., Milone, F., Frasca, G., Baranelli, L., Mclaughlin, M., Mortara Garavelli, B., Mattarucco, G., Ricci, L., Previtera, L., Coletti, V., Dardano, M., Luperini, R., Sprete, S. Prete A., Cipollone, A., Caruso, C., Riccardi, C., Trifone, P., Lezza, A., Maraschio, N., Borutti, S., Avalle, S., Civai, M., Rimoldi, A., Barzanti, R., Giannelli, E., Klange Addabbo, B., Ciociola, Claudio, Tamiozzo Goldmann, S., Boccardo, G. B., Volpi, M., Ottonieri, T., Lavezzi, G., Trotta, N., Quaglino, M., Bonsi, C., Scabia, G., Bertone, G., Gallia, A., Beccaria, G. L., Mengaldo, P. V., Pregliasco, M., Lenzini, L., Tonelli, N., Arnaldi, M., Valduga, P., Pusterla, F., Agosti, S., Buffoni, F., Dal Bianco, S., Fiori, U., Fo, A., Grasso, S., Insana, J., Porro, M., Testa, E., and Abbiati, M.

Subjects
Gianfranco Contini, Trieste, Letteratura italiana contemporanea, Storia della filologia, Storia della cultura, Letteratura triestina e giuliana
Abstract

Nel luglio del 1946 la discussione sull’assetto del confine orientale dell’italia è particolarmente accesa. Nella «Fiera letteraria» appare un saggio di Gianfranco Contini (in seguito non ripubblicato) che traccia un panorama sintetico della letteratura triestina e giuliana. Riedizione del saggio con breve introduzione.

Published
2016

34. Low-voltage fast seizures in humans begin with increased interneuron firing

Author

Elahian, B., Lado, N. E., Mankin, E., Vangala, S., Misra, A., Moxon, K., Fried, I., Sharan, A., Yeasin, M., Staba, R., Bragin, A., Avoli, M., Sperling, M. R., Engel, J., and Weiss, S. A.

Subjects
Adult, Male, Clinical Sciences, Action Potentials, Neurodegenerative, Gyrus Cinguli, Article, Young Adult, Interneurons, Seizures, Humans, Electrodes, Electrodes, Implanted, Electroencephalography, Female, Middle Aged, Retrospective Studies, Temporal Lobe, Epilepsy, Neurology & Neurosurgery, Neurosciences, Brain Disorders, nervous system, Neurological, Implanted
Abstract

ObjectiveIntracellular recordings from cells in entorhinal cortex tissue slices show that low-voltage fast (LVF) onset seizures are generated by inhibitory events. Here, we determined whether increased firing of interneurons occurs at the onset of spontaneous mesial-temporal LVF seizures recorded in patients.MethodsThe seizure onset zone (SOZ) was identified using visual inspection of the intracranial electroencephalogram. We used wavelet clustering and temporal autocorrelations to characterize changes in single-unit activity during the onset of LVF seizures recorded from microelectrodes in mesial-temporal structures. Action potentials generated by principal neurons and interneurons (ie, putative excitatory and inhibitory neurons) were distinguished using waveform morphology and K-means clustering.ResultsFrom a total of 200 implanted microelectrodes in 9 patients during 13 seizures, we isolated 202 single units; 140 (69.3%) of these units were located in the SOZ, and 40 (28.57%) of them were classified as inhibitory. The waveforms of both excitatory and inhibitory units remained stable during the LVF epoch (p > > 0.05). In the mesial-temporal SOZ, inhibitory interneurons increased their firing rate during LVF seizure onset (p

Published
2018

37. Ripples on spikes show increased phase-amplitude coupling in mesial temporal lobe epilepsy seizure-onset zones

Author

Weiss, SA, Orosz, I, Salamon, N, Moy, S, Wei, L, Van't Klooster, MA, Knight, RT, Harper, RM, Bragin, A, Fried, I, Engel, J, and Staba, RJ

Subjects
Adult, Male, Clinical Sciences, High-frequency oscillation, Epileptiform discharge, Neurodegenerative, Imaging, Young Adult, Clinical Research, Humans, Ripple, Electrodes, Retrospective Studies, Tomography Scanners, Epilepsy, Intracranial EEG, Neurology & Neurosurgery, Neurosciences, Brain, Electroencephalography, Mesial temporal lobe epilepsy, Middle Aged, Magnetic Resonance Imaging, Brain Waves, Temporal Lobe, X-Ray Computed, Brain Disorders, Three-Dimensional, Neurological, Female, Implanted
Abstract

Wiley Periodicals, Inc. © 2016 International League Against Epilepsy Objective: Ripples (80–150 Hz) recorded from clinical macroelectrodes have been shown to be an accurate biomarker of epileptogenic brain tissue. We investigated coupling between epileptiform spike phase and ripple amplitude to better understand the mechanisms that generate this type of pathologic ripple (pRipple) event. Methods: We quantified phase amplitude coupling (PAC) between epileptiform electroencephalography (EEG) spike phase and ripple amplitude recorded from intracranial depth macroelectrodes during episodes of sleep in 12 patients with mesial temporal lobe epilepsy. PAC was determined by (1) a phasor transform that corresponds to the strength and rate of ripples coupled with spikes, and a (2) ripple-triggered average to measure the strength, morphology, and spectral frequency of the modulating and modulated signals. Coupling strength was evaluated in relation to recording sites within and outside the seizure-onset zone (SOZ). Results: Both the phasor transform and ripple-triggered averaging methods showed that ripple amplitude was often robustly coupled with epileptiform EEG spike phase. Coupling was found more regularly inside than outside the SOZ, and coupling strength correlated with the likelihood a macroelectrode's location was within the SOZ (p < 0.01). The ratio of the rate of ripples coupled with EEG spikes inside the SOZ to rates of coupled ripples in non-SOZ was greater than the ratio of rates of ripples on spikes detected irrespective of coupling (p < 0.05). Coupling strength correlated with an increase in mean normalized ripple amplitude (p < 0.01), and a decrease in mean ripple spectral frequency (p < 0.05). Significance: Generation of low-frequency (80–150 Hz) pRipples in the SOZ involves coupling between epileptiform spike phase and ripple amplitude. The changes in excitability reflected as epileptiform spikes may also cause clusters of pathologically interconnected bursting neurons to grow and synchronize into aberrantly large neuronal assemblies.

Published
2016

39. New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs

Author

Sturm, D., Orr, B.A., Toprak, U.H., Hovestadt, V., Jones, D.T., Capper, D., Sill, M., Buchhalter, I., Northcott, P.A., Leis, I., Ryzhova, M., Koelsche, C., Pfaff, E., Allen, S.J., Balasubramanian, G., Worst, B.C., Pajtler, K.W., Brabetz, S., Johann, P.D., Sahm, F., Reimand, J., Mackay, A., Carvalho, D.M., Remke, M., Phillips, J.J., Perry, A., Cowdrey, C., Drissi, R., Fouladi, M., Giangaspero, F., Lastowska, M., Grajkowska, W., Scheurlen, W., Pietsch, T., Hagel, C., Gojo, J., Lotsch, D., Berger, W., Slavc, I., Haberler, C., Jouvet, A., Holm, S., Hofer, S., Prinz, M., Keohane, C., Fried, I., Mawrin, C., Scheie, D., Mobley, B.C., Schniederjan, M.J., Santi, M., Buccoliero, A.M., Dahiya, S., Kramm, C.M., Bueren, A.O. von, Hoff, K. von, Rutkowski, S., Herold-Mende, C., Fruhwald, M.C., Milde, T., Hasselblatt, M., Wesseling, P., Rossler, J., Schuller, U., Ebinger, M., Schittenhelm, J., Frank, S., Grobholz, R., Vajtai, I., Hans, V., Schneppenheim, R., Zitterbart, K., Collins, V.P., Aronica, E., Varlet, P., Puget, S., Dufour, C., Grill, J., Figarella-Branger, D., Wolter, M., Schuhmann, M.U., Shalaby, T., Grotzer, M., Meter, T. van, Monoranu, C.M., Felsberg, J., Reifenberger, G., Snuderl, M., Forrester, L.A., Koster, J., Versteeg, R., Volckmann, R., Sluis, P. van, Wolf, S., Mikkelsen, T., Gajjar, A., Aldape, K., Moore, A.S., Taylor, M.D., Jones, C., et al., Sturm, D., Orr, B.A., Toprak, U.H., Hovestadt, V., Jones, D.T., Capper, D., Sill, M., Buchhalter, I., Northcott, P.A., Leis, I., Ryzhova, M., Koelsche, C., Pfaff, E., Allen, S.J., Balasubramanian, G., Worst, B.C., Pajtler, K.W., Brabetz, S., Johann, P.D., Sahm, F., Reimand, J., Mackay, A., Carvalho, D.M., Remke, M., Phillips, J.J., Perry, A., Cowdrey, C., Drissi, R., Fouladi, M., Giangaspero, F., Lastowska, M., Grajkowska, W., Scheurlen, W., Pietsch, T., Hagel, C., Gojo, J., Lotsch, D., Berger, W., Slavc, I., Haberler, C., Jouvet, A., Holm, S., Hofer, S., Prinz, M., Keohane, C., Fried, I., Mawrin, C., Scheie, D., Mobley, B.C., Schniederjan, M.J., Santi, M., Buccoliero, A.M., Dahiya, S., Kramm, C.M., Bueren, A.O. von, Hoff, K. von, Rutkowski, S., Herold-Mende, C., Fruhwald, M.C., Milde, T., Hasselblatt, M., Wesseling, P., Rossler, J., Schuller, U., Ebinger, M., Schittenhelm, J., Frank, S., Grobholz, R., Vajtai, I., Hans, V., Schneppenheim, R., Zitterbart, K., Collins, V.P., Aronica, E., Varlet, P., Puget, S., Dufour, C., Grill, J., Figarella-Branger, D., Wolter, M., Schuhmann, M.U., Shalaby, T., Grotzer, M., Meter, T. van, Monoranu, C.M., Felsberg, J., Reifenberger, G., Snuderl, M., Forrester, L.A., Koster, J., Versteeg, R., Volckmann, R., Sluis, P. van, Wolf, S., Mikkelsen, T., Gajjar, A., Aldape, K., Moore, A.S., Taylor, M.D., Jones, C., and et al.

Abstract

Item does not contain fulltext, Primitive neuroectodermal tumors of the central nervous system (CNS-PNETs) are highly aggressive, poorly differentiated embryonal tumors occurring predominantly in young children but also affecting adolescents and adults. Herein, we demonstrate that a significant proportion of institutionally diagnosed CNS-PNETs display molecular profiles indistinguishable from those of various other well-defined CNS tumor entities, facilitating diagnosis and appropriate therapy for patients with these tumors. From the remaining fraction of CNS-PNETs, we identify four new CNS tumor entities, each associated with a recurrent genetic alteration and distinct histopathological and clinical features. These new molecular entities, designated "CNS neuroblastoma with FOXR2 activation (CNS NB-FOXR2)," "CNS Ewing sarcoma family tumor with CIC alteration (CNS EFT-CIC)," "CNS high-grade neuroepithelial tumor with MN1 alteration (CNS HGNET-MN1)," and "CNS high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR)," will enable meaningful clinical trials and the development of therapeutic strategies for patients affected by poorly differentiated CNS tumors.

Published
2016

40. Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors.

Author

Torchia, J, Golbourn, B, Feng, S, Ho, KC, Sin-Chan, P, Vasiljevic, A, Norman, JD, Guilhamon, P, Garzia, L, Agamez, NR, Lu, M, Chan, TS, Picard, D, de Antonellis, P, Khuong-Quang, D-A, Planello, AC, Zeller, C, Barsyte-Lovejoy, D, Lafay-Cousin, L, Letourneau, L, Bourgey, M, Yu, M, Gendoo, DMA, Dzamba, M, Barszczyk, M, Medina, T, Riemenschneider, AN, Morrissy, AS, Ra, Y-S, Ramaswamy, V, Remke, M, Dunham, CP, Yip, S, Ng, H-K, Lu, J-Q, Mehta, V, Albrecht, S, Pimentel, J, Chan, JA, Somers, GR, Faria, CC, Roque, L, Fouladi, M, Hoffman, LM, Moore, AS, Wang, Y, Choi, SA, Hansford, JR, Catchpoole, D, Birks, DK, Foreman, NK, Strother, D, Klekner, A, Bognár, L, Garami, M, Hauser, P, Hortobágyi, T, Wilson, B, Hukin, J, Carret, A-S, Van Meter, TE, Hwang, EI, Gajjar, A, Chiou, S-H, Nakamura, H, Toledano, H, Fried, I, Fults, D, Wataya, T, Fryer, C, Eisenstat, DD, Scheinemann, K, Fleming, AJ, Johnston, DL, Michaud, J, Zelcer, S, Hammond, R, Afzal, S, Ramsay, DA, Sirachainan, N, Hongeng, S, Larbcharoensub, N, Grundy, RG, Lulla, RR, Fangusaro, JR, Druker, H, Bartels, U, Grant, R, Malkin, D, McGlade, CJ, Nicolaides, T, Tihan, T, Phillips, J, Majewski, J, Montpetit, A, Bourque, G, Bader, GD, Reddy, AT, Gillespie, GY, Warmuth-Metz, M, Rutkowski, S, Tabori, U, Lupien, M, Brudno, M, Schüller, U, Pietsch, T, Judkins, AR, Hawkins, CE, Bouffet, E, Kim, S-K, Dirks, PB, Taylor, MD, Erdreich-Epstein, A, Arrowsmith, CH, De Carvalho, DD, Rutka, JT, Jabado, N, Huang, A, Torchia, J, Golbourn, B, Feng, S, Ho, KC, Sin-Chan, P, Vasiljevic, A, Norman, JD, Guilhamon, P, Garzia, L, Agamez, NR, Lu, M, Chan, TS, Picard, D, de Antonellis, P, Khuong-Quang, D-A, Planello, AC, Zeller, C, Barsyte-Lovejoy, D, Lafay-Cousin, L, Letourneau, L, Bourgey, M, Yu, M, Gendoo, DMA, Dzamba, M, Barszczyk, M, Medina, T, Riemenschneider, AN, Morrissy, AS, Ra, Y-S, Ramaswamy, V, Remke, M, Dunham, CP, Yip, S, Ng, H-K, Lu, J-Q, Mehta, V, Albrecht, S, Pimentel, J, Chan, JA, Somers, GR, Faria, CC, Roque, L, Fouladi, M, Hoffman, LM, Moore, AS, Wang, Y, Choi, SA, Hansford, JR, Catchpoole, D, Birks, DK, Foreman, NK, Strother, D, Klekner, A, Bognár, L, Garami, M, Hauser, P, Hortobágyi, T, Wilson, B, Hukin, J, Carret, A-S, Van Meter, TE, Hwang, EI, Gajjar, A, Chiou, S-H, Nakamura, H, Toledano, H, Fried, I, Fults, D, Wataya, T, Fryer, C, Eisenstat, DD, Scheinemann, K, Fleming, AJ, Johnston, DL, Michaud, J, Zelcer, S, Hammond, R, Afzal, S, Ramsay, DA, Sirachainan, N, Hongeng, S, Larbcharoensub, N, Grundy, RG, Lulla, RR, Fangusaro, JR, Druker, H, Bartels, U, Grant, R, Malkin, D, McGlade, CJ, Nicolaides, T, Tihan, T, Phillips, J, Majewski, J, Montpetit, A, Bourque, G, Bader, GD, Reddy, AT, Gillespie, GY, Warmuth-Metz, M, Rutkowski, S, Tabori, U, Lupien, M, Brudno, M, Schüller, U, Pietsch, T, Judkins, AR, Hawkins, CE, Bouffet, E, Kim, S-K, Dirks, PB, Taylor, MD, Erdreich-Epstein, A, Arrowsmith, CH, De Carvalho, DD, Rutka, JT, Jabado, N, and Huang, A

Abstract

We recently reported that atypical teratoid rhabdoid tumors (ATRTs) comprise at least two transcriptional subtypes with different clinical outcomes; however, the mechanisms underlying therapeutic heterogeneity remained unclear. In this study, we analyzed 191 primary ATRTs and 10 ATRT cell lines to define the genomic and epigenomic landscape of ATRTs and identify subgroup-specific therapeutic targets. We found ATRTs segregated into three epigenetic subgroups with distinct genomic profiles, SMARCB1 genotypes, and chromatin landscape that correlated with differential cellular responses to a panel of signaling and epigenetic inhibitors. Significantly, we discovered that differential methylation of a PDGFRB-associated enhancer confers specific sensitivity of group 2 ATRT cells to dasatinib and nilotinib, and suggest that these are promising therapies for this highly lethal ATRT subtype.

Published
2016

41. [Untitled]

Author

Sophie Ekman, L. Nordberg, Per Anders Rydelius, Tobias Edbom, Fried I, and Jan-Olov Larsson

Subjects
media_common.quotation_subject, Human physical appearance, Child development, Mental health, Developmental psychology, Test (assessment), Maturity (psychological), Psychiatry and Mental health, Pediatrics, Perinatology and Child Health, Developmental and Educational Psychology, General knowledge, Psychology, Mental age, Wechsler Intelligence Scale for Children, media_common
Abstract

The aim was to evaluate a questionnaire for parents concerning their school-aged children's global maturity level. Immature children (n = 29) as reported by their parents were compared to a control group (n = 68). Immaturity was linked to a reduced general knowledge, a childish body appearance, problems with the fine motor function and problems with peers. The index group also had on average a lower test result in total score of the Wechsler Intelligence Scale for Children and more commission errors in the Continuous Performance Test, both test results indicating a lower mental age.

Published
2002

42. Parents’ perception of mental development and behavioural problems in 8 to 9-year-old children

Author

Per-Anders Rydelius, Jan-Olov Larsson, Fried I, Paul Lichtenstein, and E. El-Sayed

Subjects
Adult, Male, Parents, medicine.medical_specialty, Multivariate analysis, media_common.quotation_subject, Twins, Child Behavior, CBCL, Social issues, behavioral disciplines and activities, Child Development, Surveys and Questionnaires, Perception, mental disorders, medicine, Humans, Attention deficit hyperactivity disorder, Registries, Sex Distribution, Child, Psychiatry, media_common, Sweden, business.industry, General Medicine, medicine.disease, Checklist, Maturity (psychological), Mental Health, El Niño, Attention Deficit Disorder with Hyperactivity, Pediatrics, Perinatology and Child Health, Linear Models, Female, business, Clinical psychology
Abstract

UNLABELLED A slow maturational rate may be an underlying antecedent of a psychiatric disorder. If this is correct, differences in behavioural problems could be related to the maturity level in children of the same chronological age. The aim of the study was to compare the parents' perceptions and assessments of their children's maturational status and behavioural problems. A population based on a nationwide sample from the Swedish twin-register of 8 to 9-y-old children (n = 1079) was used. The parents completed a questionnaire including their views on their child's maturity level, the Swedish version of the Child Behaviour Checklist (CBCL) and an Attention Deficit Hyperactivity Disorder (ADHD) checklist based on the DSM-III-R criteria. Multivariate analyses showed a statistically significant relationship between immaturity reported by the parents and several behavioural problems reported on the CBCL: somatic complaints, anxious and depressed, social problems, thought problems, attention problems, behaviour problems and aggressive behaviour. There was also a statistically significant relationship between the maturity factor and the CBCL grouping of syndromes (internalizing, externalizing, total behaviour problems score) as well as between the maturity factor and ADHD. CONCLUSION We conclude that at least from the parents' point of view the behaviour problems in their children may be related to maturity.

Published
2000

43. Genetic Disposition for Global Maturity: An Explanation for Genetic Effects on Parental Report on ADHD

Author

Paul Lichtenstein, Birgitta Steffensson, Per-Anders Rydelius, Jan-Olov Larsson, Fried I, and E. El-Sayed

Subjects
School age child, Social Psychology, media_common.quotation_subject, 030206 dentistry, medicine.disease, behavioral disciplines and activities, Genetic determinism, Education, Developmental psychology, Maturity (psychological), 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, mental disorders, Developmental and Educational Psychology, Genetic predisposition, Etiology, medicine, Attention deficit hyperactivity disorder, Life-span and Life-course Studies, Psychology, 030217 neurology & neurosurgery, Social Sciences (miscellaneous), media_common
Abstract

Attention deficit hyperactivity disorder (ADHD) has been shown to be substantially influenced by genetic factors. However it is still not known how these effects are mediated. The aim of this study is to evaluate whether genetic disposition for global maturity could be a mediator of the well-known findings of genetic factors for ADHD symptoms. A total of 1480 pairs of twins aged 8-9 years were identified through the population-based Swedish Twin Registry. A mailed questionnaire with items from DSM-III-R for ADHD and items concerning global maturity were completed by the parents. The results showed that global maturity mediated part of genetic effects for ADHD for both boys and girls. There were also genetic, shared environmental, as well as nonshared environmental effects unique to ADHD not in common with global maturity. Thus, there are at least two pathways through which genetic effects can influence ADHD: one through predisposition for maturational lag and one unique to ADHD, possibly mediated by personality. The results indicate that maturational lag could be of importance for treatment and prognosis of ADHD.

Published
1999

44. Treatment inferred from mutations identified using massive parallel sequencing leads to clinical benefit in some heavily pretreated cancer patients

Author

Zick, A., primary, Peretz, T., additional, Lotem, M., additional, Hubert, A., additional, Katz, D., additional, Temper, M., additional, Rottenberg, Y., additional, Uziely, B., additional, Nechushtan, H., additional, Meirovitz, A., additional, Sonnenblick, A., additional, Sapir, E., additional, Edelman, D., additional, Goldberg, Y., additional, Lossos, A., additional, Rosenberg, S., additional, Fried, I., additional, Finklstein, R., additional, Pikarsky, E., additional, and Goldshmidt, H., additional

Published
2016
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