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101. Brain biopsy in dementia

Author

Warren, J. D., Schott, J. M., Fox, N. C., Thom, M., Revesz, T., Holton, J. L., Scaravilli, F., Thomas, D. G. T., Plant, G. T., Rudge, P., and Rossor, M. N.

Published
2005

106. Radiobiological Advanced Biostack Experiment

Author

Bücker, H., Horneck, G., Facius, R., Reitz, G., Schäfer, M., Schott, J. U., Beaujean, R., Enge, W., Schopper, E., Heinrich, H., Beer, J., Wiegel, B., Pfohl, R., François, H., Portal, G., Bonting, S. L., Graul, E. H., Rüther, W., Kranz, A. R., Bork, U., Koller-Lampert, K., Kirchheim, B., Starke, M. E., Planel, H., and Delpoux, M.

Published
1984

114. Proceedings of the 12th JPL Airborne Earth Science Workshop

Author

Goodman, J. A, Li, L, Whiting, M. L, White, D. A, Pieri, D, Buongiorno, M. F, Carrere, V, Spinetti, C, Healey, G, Hoffmann, G, Raqueno, R, Lee, K, Schott, J. R, Merenyi, E, Rudd, L, Wolboldt, M. W, Penn, B. S, Moline, M, Davis, C. O, Gao, B.-C, Sano, E. E, Ferreira, L. G, Shippert, M, Paswaters, S, Gorodetsky, D, Felde, G, Berk, A, Adler-Golden, S. M, Matthew, M. W, Martin, R. E, Faye, C, Michel, R, Marion, R, Lobell, D. B, Kruse, F. A, Hall, S. A, Burke, I. C, Jia, G. J, Yoshioka, H, Kim, H.-J, Miura, T, Huete, A, Bird, D, Henderson, F. B. III, Prosh, E. C, Sares, M. A, Peters, D. C, Coulter, D. W, Hauff, P. L, Pavri, B, Ustin, S. L, Montes, M. J, West, C, Pearlman, J, Niemann, K. O, Murdoch, M, McDonald, S, Han, T, Dyk, A, Chen, H, Goodenough, D. G, Gutmann, E, Ferri, M, Canty, M, Frank, M, Farrand, W. H, Roberts, D. A, Dennison, P. E, Chisholm, L, Demuro, M, Karnieli, A, Binyaminy, Y, Agassi, M, Bonfil, D, Goetz, A. F. H, Kindel, B, Braun, O, Goldshalager, N, Ben-Dor, E, Beck, R, Peters, S, Bagheri, S, Ray, D, Harris, T, Moutinho, P, Cardinot, G, Nepstad, D, Asner, G. P, and Green, Robert O

Abstract

Participants at the 12th Airborne Earth Science Workshop reported science research and applications results with spectral images measured by the NASA Airborne Invisible/Infrared Imaging Spectrometer (AVIRIS).

Published
2003

115. MRI visual rating scales in the diagnosis of dementia: evaluation in 184 post-mortem confirmed cases

Author

Harper, L., Fumagalli, G. G., Barkhof, F., Scheltens, P., O'Brien, J. T., Bouwman, F., Burton, E. J., Rohrer, J. D., Fox, N. C., Ridgway, G. R., Schott, J. M., O'Brien, John [0000-0002-0837-5080], Apollo - University of Cambridge Repository, Radiology and nuclear medicine, Amsterdam Neuroscience - Neurodegeneration, and Neurology

Subjects
Aged, 80 and over, Cerebral Cortex, Lewy Body Disease, Male, neuropathology, visual rating, Reproducibility of Results, Original Articles, Middle Aged, Magnetic Resonance Imaging, brain atrophy, dementia, MRI, Editor's Choice, Alzheimer Disease, Humans, Dementia, Female, Autopsy, Frontotemporal Lobar Degeneration, Aged
Abstract

Distinguishing between the degenerative dementias during life can be challenging. Using histopathologically confirmed cases for comparison, Harper et al. evaluate six visual rating scales for use with routinely acquired structural MRI. Automated classification based on all six scales provides a practical, fast and inexpensive means of improving diagnostic certainty., Accurately distinguishing between different degenerative dementias during life is challenging but increasingly important with the prospect of disease-modifying therapies. Molecular biomarkers of dementia pathology are becoming available, but are not widely used in clinical practice. Conversely, structural neuroimaging is recommended in the evaluation of cognitive impairment. Visual assessment remains the primary method of scan interpretation, but in the absence of a structured approach, diagnostically relevant information may be under-utilized. This definitive, multi-centre study uses post-mortem confirmed cases as the gold standard to: (i) assess the reliability of six visual rating scales; (ii) determine their associated pattern of atrophy; (iii) compare their diagnostic value with expert scan assessment; and (iv) assess the accuracy of a machine learning approach based on multiple rating scales to predict underlying pathology. The study includes T 1 -weighted images acquired in three European centres from 184 individuals with histopathologically confirmed dementia (101 patients with Alzheimer’s disease, 28 patients with dementia with Lewy bodies, 55 patients with frontotemporal lobar degeneration), and scans from 73 healthy controls. Six visual rating scales (medial temporal, posterior, anterior temporal, orbito-frontal, anterior cingulate and fronto-insula) were applied to 257 scans (two raters), and to a subset of 80 scans (three raters). Six experts also provided a diagnosis based on unstructured assessment of the 80-scan subset. The reliability and time taken to apply each scale was evaluated. Voxel-based morphometry was used to explore the relationship between each rating scale and the pattern of grey matter volume loss. Additionally, the performance of each scale to predict dementia pathology both individually and in combination was evaluated using a support vector classifier, which was compared with expert scan assessment to estimate clinical value. Reliability of scan assessment was generally good (intraclass correlation coefficient > 0.7), and average time to apply all six scales was

Published
2016
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117. Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series

Author

Koriath, C., Kenny, J., Adamson, G., Druyeh, R., Taylor, W., Beck, J., Quinn, L., Mok, T. H., Dimitriadis, A., Norsworthy, P., Bass, N., Carter, J., Walker, Z., Kipps, C., Coulthard, E., Polke, J. M., Bernal-Quiros, M., Denning, N., Thomas, R., Raybould, R., Williams, J., Mummery, C. J., Wild, E. J., Houlden, H., Tabrizi, S. J., Rossor, M. N., Hummerich, H., Warren, J. D., Rowe, J. B., Rohrer, J. D., Schott, J. M., Fox, N. C., Collinge, J., and Mead, S.

Subjects
Mutation, High-Throughput Nucleotide Sequencing, Humans, Dementia, Genomics, Referral and Consultation, Article, Aged
Abstract

Next-generation genetic sequencing (NGS) technologies facilitate the screening of multiple genes linked to neurodegenerative dementia, but there is little guidance available about their use in clinical practice. Guidelines on which patients would most profit from testing, and information on the likelihood of discovery of a causal variant in a clinical syndrome, are conspicuously absent from the literature, mostly for a lack of large-scale studies. We applied a validated NGS dementia panel to 3241 patients with dementia and healthy aged controls; 13,152 variants were classified by likelihood of pathogenicity. We identified 354 deleterious variants (DV, 12.6% of patients); 39 were novel DVs. Age at clinical onset, clinical syndrome and family history each strongly predict the likelihood of finding a DV, but healthcare setting and gender did not. DVs were frequently found in genes not usually associated with the clinical syndrome. Patients recruited from primary referral centres were compared to those seen at higher-level research centres and a national clinical neurogenetic laboratory; rates of discovery were comparable, making selection bias unlikely and the results generalizable to clinical practice. We estimated penetrance of DVs using large-scale online genomic population databases and found 71 with evidence of reduced penetrance. Two DVs in the same patient were found more frequently than expected. These publicly-available data should provide a basis for informed counselling and clinical decision making.

Published
2018

118. Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference

Author

Young, A. L., Marinescu, R. V., Oxtoby, N. P., Bocchetta, M., Yong, K., Firth, N. C., Cash, D. M., Thomas, D. L., Dick, K. M., Cardoso, J., van Swieten, J., Borroni, B., Galimberti, D., Masellis, M., Tartaglia, M. C., Rowe, J. B., Graff, C., Tagliavini, F., Frisoni, G. B., Laforce, R., Finger, E., de Mendonca, A., Sorbi, S., Warren, J. D., Crutch, S., Fox, N. C., Ourselin, S., Schott, J. M., Rohrer, J. D., Alexander, D. C., Andersson, C., Archetti, S., Arighi, A., Benussi, L., Binetti, G., Black, S., Cosseddu, M., Fallstrom, M., Ferreira, C., Fenoglio, C., Freedman, M., Fumagalli, G. G., Gazzina, S., Ghidoni, R., Grisoli, M., Jelic, V., Jiskoot, L., Keren, R., Lombardi, G., Maruta, C., Meeter, L., Mead, S., van Minkelen, R., Nacmias, B., Oijerstedt, L., Padovani, A., Panman, J., Pievani, M., Polito, C., Premi, E., Prioni, S., Rademakers, R., Redaelli, V., Rogaeva, E., Rossi, G., Rossor, M., Scarpini, E., Tang-Wai, D., Thonberg, H., Tiraboschi, P., Verdelho, A., Weiner, M. W., Aisen, P., Petersen, R., Jack, C. R., Jagust, W., Trojanowki, J. Q., Toga, A. W., Beckett, L., Green, R. C., Saykin, A. J., Morris, J., Shaw, L. M., Khachaturian, Z., Sorensen, G., Kuller, L., Raichle, M., Paul, S., Davies, P., Fillit, H., Hefti, F., Holtzman, D., Mesulam, M. M., Potter, W., Snyder, P., Schwartz, A., Montine, T., Thomas, R. G., Donohue, M., Walter, S., Gessert, D., Sather, T., Jiminez, G., Harvey, D., Bernstein, M., Thompson, P., Schuff, N., Borowski, B., Gunter, J., Senjem, M., Vemuri, P., Jones, D., Kantarci, K., Ward, C., Koeppe, R. A., Foster, N., Reiman, E. M., Chen, K., Mathis, C., Landau, S., Cairns, N. J., Householder, E., Taylor-Reinwald, L., Lee, V., Korecka, M., Figurski, M., Crawford, K., Neu, S., Foroud, T. M., Potkin, S., Shen, L., Faber, K., Kim, S., Nho, K., Thal, L., Buckholtz, N., Albert, M., Frank, R., Hsiao, J., Kaye, J., Quinn, J., Lind, B., Carter, R., Dolen, S., Schneider, L. S., Pawluczyk, S., Beccera, M., Teodoro, L., Spann, B. M., Brewer, J., Vanderswag, H., Fleisher, A., Heidebrink, J. L., Lord, J. L., Mason, S. S., Albers, C. S., Knopman, D., Johnson, K., Doody, R. S., Villanueva-Meyer, J., Chowdhury, M., Rountree, S., Dang, M., Stern, Y., Honig, L. S., Bell, K. L., Ances, B., Carroll, M., Leon, S., Mintun, M. A., Schneider, S., Oliver, A., Marson, D., Griffith, R., Clark, D., Geldmacher, D., Brockington, J., Roberson, E., Grossman, H., Mitsis, E., de Toledo-Morrell, L., Shah, R. C., Duara, R., Varon, D., Greig, M. T., Roberts, P., Onyike, C., D'Agostino, D., Kielb, S., Galvin, J. E., Cerbone, B., Michel, C. A., Rusinek, H., de Leon, M. J., Glodzik, L., De Santi, S., Doraiswamy, P. M., Petrella, J. R., Wong, T. Z., Arnold, S. E., Karlawish, J. H., Wolk, D., Smith, C. D., Jicha, G., Hardy, P., Sinha, P., Oates, E., Conrad, G., Lopez, O. L., Oakley, M. A., Simpson, D. M., Porsteinsson, A. P., Goldstein, B. S., Martin, K., Makino, K. M., Ismail, M. S., Brand, C., Mulnard, R. A., Thai, G., Mc-Adams-Ortiz, C., Womack, K., Mathews, D., Quiceno, M., Diaz-Arrastia, R., King, R., Weiner, M., Martin-Cook, K., Devous, M., Levey, A. I., Lah, J. J., Cellar, J. S., Burns, J. M., Anderson, H. S., Swerdlow, R. H., Apostolova, L., Tingus, K., Woo, E., Silverman, D. H., P. H., Lu, Bartzokis, G., Graff-Radford, N. R., Parfitt, F., Kendall, T., Johnson, H., Farlow, M. R., Hake, A. M., Matthews, B. R., Herring, S., Hunt, C., van Dyck, C. H., Carson, R. E., Macavoy, M. G., Chertkow, H., Bergman, H., Hosein, C., Stefanovic, B., Caldwell, C., Hsiung, G. -Y. R., Feldman, H., Mudge, B., Assaly, M., Kertesz, A., Rogers, J., Bernick, C., Munic, D., Kerwin, D., Mesulam, M. -M., Lipowski, K., C. -K., Wu, Johnson, N., Sadowsky, C., Martinez, W., Villena, T., Turner, R. S., Reynolds, B., Sperling, R. A., Johnson, K. A., Marshall, G., Frey, M., Lane, B., Rosen, A., Tinklenberg, J., Sabbagh, M. N., Belden, C. M., Jacobson, S. A., Sirrel, S. A., Kowall, N., Killiany, R., Budson, A. E., Norbash, A., Johnson, P. L., Allard, J., Lerner, A., Ogrocki, P., Hudson, L., Fletcher, E., Carmichael, O., Olichney, J., Decarli, C., Kittur, S., Borrie, M., Lee, T. -Y., Bartha, R., Johnson, S., Asthana, S., Carlsson, C. M., Potkin, S. G., Preda, A., Nguyen, D., Tariot, P., Reeder, S., Bates, V., Capote, H., Rainka, M., Scharre, D. W., Kataki, M., Adeli, A., Zimmerman, E. A., Celmins, D., Brown, A. D., Pearlson, G. D., Blank, K., Anderson, K., Santulli, R. B., Kitzmiller, T. J., Schwartz, E. S., Sink, K. M., Williamson, J. D., Garg, P., Watkins, F., Ott, B. R., Querfurth, H., Tremont, G., Salloway, S., Malloy, P., Correia, S., Rosen, H. J., Miller, B. L., Mintzer, J., Spicer, K., Bachman, D., Pasternak, S., Rachinsky, I., Drost, D., Pomara, N., Hernando, R., Sarrael, A., Schultz, S. K., Ponto, L. L. B., Shim, H., Smith, K. E., Relkin, N., Chaing, G., Raudin, L., Smith, A., Fargher, K., Raj, B. A., Neylan, T., Grafman, J., Davis, M., Morrison, R., Hayes, J., Finley, S., Friedl, K., Fleischman, D., Arfanakis, K., James, O., Massoglia, D., Fruehling, J. J., Harding, S., Peskind, E. R., Petrie, E. C., Li, G., Yesavage, J. A., Taylor, J. L., and Furst, A. J.

Published
2018

119. P2864A novel mechanism of sinus node dysfunction: intergenic deletion between PITX2 and ANK2 disrupts chromatin structure in pacemaker cell differentiation

Author

Murata, H, primary, Lindenbaum, P, additional, Le Scouarnec, S, additional, Baron, E, additional, Rajalu, A, additional, Kyndt, F, additional, Deleuze, J F, additional, Le Marec, H, additional, Probst, V, additional, Shimizu, W, additional, Redon, R, additional, and Schott, J J, additional

Published
2019
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122. The Dementias Platform UK (DPUK) Data Portal

Author

Bauermeister, S, primary, Orton, C, additional, Thompson, S, additional, Barker, R A, additional, Bauermeister, J R, additional, Ben-Shlomo, Y, additional, Brayne, C, additional, Burn, D, additional, Campbell, A, additional, Calvin, C, additional, Chandran, S, additional, Chaturvedi, N, additional, Chene, G, additional, Chessell, I P, additional, Corbett, A, additional, Davis, D H J, additional, Denis, M, additional, Dufouil, C, additional, Elliott, P, additional, Fox, N, additional, Hill, D, additional, Hofer, SM, additional, Hu, M T, additional, Jindra, C, additional, Kee, F, additional, Kim, C H, additional, Kim, C, additional, Kivimaki, M, additional, Koychev, I, additional, Lawson, R A, additional, Linden, G J, additional, Lyons, R A, additional, Mackay, C, additional, Matthews, P M, additional, McGuiness, B, additional, Middleton, L, additional, Moody, C, additional, Moore, K, additional, Na, D L, additional, O’Brien, J T, additional, Ourselin, S, additional, Paranjothy, S, additional, Park, K S, additional, Porteous, D J, additional, Richards, M, additional, Ritchie, C W, additional, Rohrer, J D, additional, Rossor, M N, additional, Rowe, J B, additional, Scahill, R, additional, Schnier, C, additional, Schott, J M, additional, Seo, S W, additional, South, M, additional, Steptoe, A, additional, Tabrizi, S J, additional, Tales, A, additional, Tillin, T, additional, Timpson, N J, additional, Toga, A W, additional, Visser, PJ, additional, Wade-Martins, R, additional, Wilkinson, T, additional, Williams, J, additional, Wong, A, additional, and Gallacher, J E, additional

Published
2019
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125. SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups.

Author

Baruteau, A, Kyndt, F, Behr, E, Vink, A, Lachaud, M, Joong, A, Schott, J, Horie, M, Denjoy, I, Crotti, L, Shimizu, W, Bos, J, Stephenson, E, Wong, L, Abrams, D, Davis, A, Winbo, A, Dubin, A, Sanatani, S, Liberman, L, Kaski, J, Rudic, B, Kwok, S, Rieubland, C, Tfelt-Hansen, J, Van Hare, G, Guyomarc'h-Delasalle, B, Blom, N, Wijeyeratne, Y, Gourraud, J, Le Marec, H, Ozawa, J, Fressart, V, Lupoglazoff, J, Dagradi, F, Spazzolini, C, Aiba, T, Tester, D, Zahavich, L, Beauséjour-Ladouceur, V, Jadhav, M, Skinner, J, Franciosi, S, Krahn, A, Abdelsayed, M, Ruben, P, Yung, T, Ackerman, M, Wilde, A, Schwartz, P, Probst, V, Baruteau, AE, Behr, ER, Vink, AS, Schott, JJ, Bos, JM, Stephenson, EA, Abrams, DJ, Davis, AM, Dubin, AM, Kaski, JP, Kwok, SY, Van Hare, GF, Blom, NA, Wijeyeratne, YD, Gourraud, JB, Lupoglazoff, JM, Tester, DJ, Zahavich, LA, Skinner, JR, Krahn, AD, Ruben, PC, Yung, TC, Ackerman, MJ, Wilde, AA, Schwartz, PJ, Probst, V., Baruteau, A, Kyndt, F, Behr, E, Vink, A, Lachaud, M, Joong, A, Schott, J, Horie, M, Denjoy, I, Crotti, L, Shimizu, W, Bos, J, Stephenson, E, Wong, L, Abrams, D, Davis, A, Winbo, A, Dubin, A, Sanatani, S, Liberman, L, Kaski, J, Rudic, B, Kwok, S, Rieubland, C, Tfelt-Hansen, J, Van Hare, G, Guyomarc'h-Delasalle, B, Blom, N, Wijeyeratne, Y, Gourraud, J, Le Marec, H, Ozawa, J, Fressart, V, Lupoglazoff, J, Dagradi, F, Spazzolini, C, Aiba, T, Tester, D, Zahavich, L, Beauséjour-Ladouceur, V, Jadhav, M, Skinner, J, Franciosi, S, Krahn, A, Abdelsayed, M, Ruben, P, Yung, T, Ackerman, M, Wilde, A, Schwartz, P, Probst, V, Baruteau, AE, Behr, ER, Vink, AS, Schott, JJ, Bos, JM, Stephenson, EA, Abrams, DJ, Davis, AM, Dubin, AM, Kaski, JP, Kwok, SY, Van Hare, GF, Blom, NA, Wijeyeratne, YD, Gourraud, JB, Lupoglazoff, JM, Tester, DJ, Zahavich, LA, Skinner, JR, Krahn, AD, Ruben, PC, Yung, TC, Ackerman, MJ, Wilde, AA, Schwartz, PJ, and Probst, V.

Abstract

Aims: To clarify the clinical characteristics and outcomes of children with SCN5A-mediated disease and to improve theirrisk stratification. Methods and results: A multicentre, international, retrospective cohort study was conducted in 25 tertiary hospitals in 13 countries between1990 and 2015. All patients <_16 years of age diagnosed with a genetically confirmed SCN5A mutation wereincluded in the analysis. There was no restriction made based on their clinical diagnosis. A total of 442 children{55.7% boys, 40.3% probands, median age: 8.0 [interquartile range (IQR) 9.5] years} from 350 families wereincluded; 67.9% were asymptomatic at diagnosis. Four main phenotypes were identified: isolated progressive cardiacconduction disorders (25.6%), overlap phenotype (15.6%), isolated long QT syndrome type 3 (10.6%), and isolatedBrugada syndrome type 1 (1.8%); 44.3% had a negative electrocardiogram phenotype. During a medianfollow-up of 5.9 (IQR 5.9) years, 272 cardiac events (CEs) occurred in 139 (31.5%) patients. Patients whose mutationlocalized in the C-terminus had a lower risk. Compound genotype, both gain- and loss-of-function SCN5A mutation,age <_1 year at diagnosis in probands and age <_1 year at diagnosis in non-probands were independent predictorsof CE.Conclusion In this large paediatric cohort of SCN5A mutation-positive subjects, cardiac conduction disorders were the mostprevalent phenotype; CEs occurred in about one-third of genotype-positive children, and several independent riskfactors were identified, including age <_1 year at diagnosis, compound mutation, and mutation with both gain- andloss-of-function.

Published
2018

126. Dosimetry of heavy ions by use of CCD detectors

Author

Schott, J. U

Subjects
Atomic And Molecular Physics
Abstract

The design and the atomic composition of Charge Coupled Devices (CCD's) make them unique for investigations of single energetic particle events. As detector system for ionizing particles they detect single particles with local resolution and near real time particle tracking. In combination with its properties as optical sensor, particle transversals of single particles are to be correlated to any objects attached to the light sensitive surface of the sensor by simple imaging of their shadow and subsequent image analysis of both, optical image and particle effects, observed in affected pixels. With biological objects it is possible for the first time to investigate effects of single heavy ions in tissue or extinguished organs of metabolizing (i.e. moving) systems with a local resolution better than 15 microns. Calibration data for particle detection in CCD's are presented for low energetic protons and heavy ions.

Published
1994

127. Direct Parametric Reconstruction with Joint Motion Estimation/Correction for Dynamic Brain PET Data

Author

Jiao, J., Bousse, A., Thielemans, K., Burgos, Ninon, Weston, P. S. J., Schott, J. M., Atkinson, D., Arridge, S. R., Hutton, B. F., Markiewicz, P., Ourselin, S., Centre for Medical Image Computing (CMIC), and University College of London [London] (UCL)

Subjects
positron emission tomography, Physics::Medical Physics, phantoms, maximum likelihood estimation, Dynamic PET, medical image processing, biomechanics, diseases, simulated [11C]raclopride data, raw PET photon count data, Biomedical imaging, joint motion estimation-correction, spatially aligned temporal PET data, subject head motion, real clinical [18F]florbetapir data, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, dynamic brain PET data, acquisition time, Kinetic theory, motion correction, parametric images, photon counting, motion-corrected parametric images, time 1 h to 2 h, motion-compensated attenuation correction, quantitative analysis, kinetic parameters, Attenuation, subject motion, Alzheimer's disease, image reconstruction, Dynamics, PET reconstruction, raw photon counts, motion compensation, Zubal brain phantom, Photonics, direct parametric reconstruction, joint direct parametric reconstruction motion correction, kinetic analysis, biological tissues, dynamic positron emission tomography data, distorted tissue-to-voxel mapping, maximum likelihood framework
Abstract

00001; International audience; Direct reconstruction of parametric images from raw photon counts has been shown to improve the quantitative analysis of dynamic positron emission tomography (PET) data. However it suffers from subject motion which is inevitable during the typical acquisition time of 1-2 hours. In this work we propose a framework to jointly estimate subject head motion and reconstruct the motion-corrected parametric images directly from raw PET data, so that the effects of distorted tissue-to-voxel mapping due to subject motion can be reduced in reconstructing the parametric images with motion-compensated attenuation correction and spatially aligned temporal PET data. The proposed approach is formulated within the maximum likelihood framework, and efficient solutions are derived for estimating subject motion and kinetic parameters from raw PET photon count data. Results from evaluations on simulated [11C]raclopride data using the Zubal brain phantom and real clinical [18F]florbetapir data of a patient with Alzheimer's disease show that the proposed joint direct parametric reconstruction motion correction approach can improve the accuracy of quantifying dynamic PET data with large subject motion.

Published
2017
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128. First biological and dosimetric results of the free flyer biostack experiment AO015 on LDEF

Author

Reitz, G, Buecker, H, Facius, R, Horneck, G, Schaeffer, M, Schott, J. U, Bayonove, J, Beaujean, R, Benton, E. V, and Delpoux, M

Subjects
Life Sciences (General)
Abstract

The main objectives of the Biostack Experiment are to study the effectiveness of the structured components of the cosmic radiation to bacterial spores, plant seeds, and animal cysts for a long duration spaceflight and to get dosimetric data such as particle fluences and spectra and total doses for the Long Duration Exposure Facility orbit. The configuration of the experiment packages allows the localization of the trajectory of the particles in each biological layer and to correlate the potential biological impairment or injury with the physical characteristics of the responsible particle. Although the Biostack Experiment was designed for a long duration flight of only nine months, most of the biological systems show a high hatching or germination rate. Some of the first observations are an increase of the mutation rate of embryonic lethals in the second generation of Arabidopsis seeds, somatic mutations, and a reduction of growth rates of corn plants and a reduction of life span of Artemia salina shrimps. The different passive detector systems are also in a good shape and give access to a proper dosimetric analysis. The results are summarized, and some aspects of future analysis are shown.

Published
1991

129. P5441Aortic valve phenotype associated with filamin-A mutations: a comprehensive echocardiographic and outcomes analyses

Author

Capoulade, R, primary, Cueff, C, additional, Piriou, N, additional, Toquet, C, additional, Blandin, S, additional, Guimbretiere, G, additional, Omen, T, additional, Aalberts, J, additional, Bernstein, D, additional, Bernstein, J, additional, Trochu, J N, additional, Le Marec, H, additional, Merot, J, additional, Schott, J J, additional, and Le Tourneau, T, additional

Published
2018
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132. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

Author

Lambert, J. C., Ibrahim-Verbaas, C. A., Russo, G., Mayhaus, M., Lannefelt, L., Hakonarson, H., Pichler, S., Carrasquillo, M. M., Ingelsson, M., Beekly, D., Alvarez, V., Zou, F., Valladares, O., Thorton-Wells, T. A., Younkin, S. G., Coto, E., Hamilton-Nelson, K. L., Gu, W., Razquin, C., Pastor, P., Mateo, I., Owen, M. J., Faber, K. M., Jonsson, P. V., Jones, N., Combarros, O., O'Donovan, M. C., Cantwell, L. B., Soininen, H., Blacker, D., Mead, S., Mosley, T. H., Bennett, D. A., Harris, T. B., Fratiglioni, L., Smith, A. V., Holmes, C., de Bruijn, R. F., Passmore, P., Montine, T. J., Bettens, K., Rotter, J. I., Brice, A., Morgan, K., Foroud, T. M., Kukull, W. A., Chouraki, V., Hannequin, D., Powell, J. F., Nalls, M. A., Ritchie, K., Lunetta, K. L., Kauwe, J. S., Boerwinkle, E., Riemenschneider, M., Boada, M., Hiltuenen, M., Thomas, C., Martin, E. R., Schmidt, R., Rujescu, D., Wang, L. S., Dartigues, J. F., Mayeux, R., Tzourio, C., Hofman, A., Nöthen, M. M., Graff, C., Ikram, M. A., Psaty, B. M., Jones, L., Haines, J. L., Holmans, P. A., Lathrop, M., Pericak-Vance, M. A., Launer, L. J., Farrer, L. A., van Duijn, C. M., Van Broeckhoven, C., Zelenika, D., Moskvina, V., Seshadri, S., Williams, J., Schellenberg, G. D., Amouyel, P., Alpérovitch, A., Boland, A., Delépoine, M., Dubois, B., Duron, E., Vardarajan, B. N., Epelbaum, J., Van Cauwenberghe, C., Engelborghs, S., Vandenberghe, R., De Deyn, P. P., Ferri, R., Romano, C., Caltagirone, C., Orfei, M. D., Ciaramella, A., Kamatani, Y., Scarpini, E., Fenoglio, C., Siciliano, G., Bonuccelli, U., Bagnoli, S., Bracco, L., Bessi, V., Cecchetti, R., Bastgiani, P., Squassina, A., Harold, D., Lin, C. F., Seripa, D., Frank-García, A., Sastre, I., Blesa, R., Alcolea, D., Suárez-Clavet, M., Sánchez-Juan, P., Muñoz Fernandez, C., Aladro Benito, Y., Thonberg, H., Gerrish, A., Forshell, C., Lilus, L., Kinhult-Ståhlbom, A., Giedraitis, V., Kilander, L., Brundin, R. M., Concari, L., Helisalmi, S., Koivisto, A. M., Haapasalo, A., Schmidt, H., Solfrizzi, V., Frisardi, V., Ott, J., Carney, R. M., Mash, D. C., Albert, M. S., Albin, R. L., Apostolova, L. G., Arnold, S. E., Barmada, M. M., Kunkle, B., Barnes, L. L., Beach, T. G., Bigio, E. H., Bird, T. D., Boeve, B. F., Bowen, J. D., Boxer, A., Burk, J. R., Cairns, N. J., Cao, C., Dunstan, M. L., Carlson, C. S., Carroll, S. L., Chibnik, L. B., Chui, H. C., Clark, D. G., Corneveaux, J., Cribbs, D. G., DeCarli, C., DeKosky, S. T., Demirci, F. Y., Ruiz, A., Dick, M., Dickson, D. W., Duara, R., Ertekin-Taner, N., Fallon, K. B., Farlow, M. R., Ferris, S., Frosch, M. P., Galasko, G. R., Ganguli, M., Bihoreau, M. T., Gearing, M., Geschwind, D. H., Ghetti, B., Gilman, S., Glass, J. D., Growdon, J. H., Hamilton, R. L., Harrell, L. E., Head, E., Honig, L. S., Choi, S. H., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Jicha, G. A., Jin, L. W., Karydas, A., Kaye, J. A., Kim, R., Koo, E. H., Reitz, C., Kowall, N. W., Kramer, J. H., Kramer, P., LaFerla, F. M., Lah, J. J., Levernez, J. B., Levey, A. I., Li, G., Lieberman, A. P., Lyketsos, C. G., Pasquier, F., Mack, W. J., Marson, D. C., Martiniuk, F., Masliah, E., McCormick, W. C., McCurry, S. M., McDavid, A. N., McKee, A. C., Mesulam, M., Miller, B. L., Naj, A. C., Cruchaga, C., Miller, C. A., Miller, J. W., Morris, J. C., Murrell, J. R., Olichney, J. M., Pankratz, V. S., Parasi, J. E., Peskind, E., Peterson, R. C., Pierce, A., Craig, D., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Raskind, M., Raiman, E. M., Reisberg, B., Ringman, J. M., Roberson, E. D., Rosen, H. J., Amin, N., Rosenberg, R. N., Sano, M., Saykin, A. J., Schneider, J. A., Schneider, L. S., Seely, W. W., Smith, A. G., Sonnen, J. A., Spina, S., Stern, R. A., Berr, C., Tanzi, R. E., Trojanowski, J. Q., Troncoso, J. C., Van Deerlin, V. M., Van Eldik, L. J., Vinters, H. V., Vonsattel, J. P., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Lopez, O. L., Woltjer, R. L., Yu, C. E., Barber, R., Au, R., Wolf, P. A., Beiser, A., Debette, S., Yang, Q., Weinstein, G., Johnson, A. D., De Jager, P. L., Wang, J., Uitterlinden, A. G., Rivadeneira, F., Koudstgaal, P. J., Longstreth, W. T., Becker, J. T., Kuller, L. H., Lumley, T., Rice, K., Garcia, M., Deramecourt, V., Aspelund, T., Marksteiner, J. J., Dal-Bianco, P., Töglhofer, A. M., Freudenberger, P., Ransmayr, G., Benke, T., Toeglhofer, A. M., Bressler, J., Breteler, M. M., Johnston, J. A., Fornage, M., Hernández, I., Rosende Roca, M., Ana Mauleón, M., Alegrat, M., RamÍrez-Lorca, R., González-Perez, A., Chapman, J., Stretton, A., Morgan, A., Evans, D., Kehoe, P. G., Medway, C., Lord, J., Turton, J., Hooper, N. M., Vardy, E., Warren, J. D., Schott, J. M., Uphill, J., Ryan, N., Lovestone, S., Rossor, M., Ben-Shlomo, Y., Makrina, D., Gkatzima, O., Lupton, M., Koutroumani, M., Avramidou, D., Germanou, A., Jessen, F., Riedel-Heller, S., Sims, R., Letenneur, L., Dichgans, M., Heun, R., Kölsch, H., Schürmann, B., Herold, C., Lacour, A., Drichel, D., Hoffman, P., Kornhuber, J., Morón, F. J., Feulner, T., van den Bussche, H., Lawlor, B., Lynch, A., Mann, D., Smith, A. D., Warden, D., Wilcock, G., Heuser, I., Wiltgang, J., Rubinsztein, D. C., Frölich, L., Hüll, M., Mayo, K., Livingston, G., Bass, N. J., Gurling, H., McQuillen, A., Gwilliam, R., Deloukas, P., Al-Chalabi, A., Eiriksdottir, G., Shaw, C. E., Singleton, A. B., Guerreiro, R., Jöckel, K. H., Klopp, N., Wichmann, H. E., Graff-Radford, N. R., Ma, L., Bisceglio, G., Sleegers, K., Fisher, E., Warner, N., Pickering-Brown, S., Becker, Tim, Goate, A. M., Fiévet, N., Huentelman, M. W., Gill, M., Brown, K., Bellenguez, C., Kamboh, M. I., Keller, L., Barberger-Gateau, P., McGuiness, B., Larson, E. B., Green, R., Myers, A. J., Dufouil, C., Todd, S., Wallon, D., DeStafano, A. L., Love, S., Rogaeva, E., Gallacher, J., St George-Hyslop, P., Clarimon, J., Lleo, A., Bayer, A., Tsuang, D. W., Yu, L., Tsolaki, M., Bis, J. C., Bossù, P., Spalletta, G., Proitsi, P., Collinge, J., Sorbi, S., Sanchez-Garcia, F., Fox, N. C., Hardy, J., Deniz Naranjo, M. C., Bosco, P., Beecham, G. W., Clarke, R., Brayne, C., Galimberti, D., Mancuso, M., Matthews, F., Initiative, European Alzheimer's Disease, Disease, Genetic and Environmental Risk in Alzheimer's, Consortium, Alzheimer's Disease Genetic, Epidemiology, Cohorts for Heart and Aging Research in Genomic, Moebus, S., Grenier-Boley, B., Mecocci, P., Del Zompo, M., Maier, W., Hampel, H., Pilotto, A., Bullido, M., Panza, F., Caffarra, P., Nacmias, B., Gilbert, J. R., Neurology, Radiology & Nuclear Medicine, and Epidemiology

Subjects
Male, Apolipoprotein E, epidemiology [Alzheimer Disease], SORL1, Medizin, genetics [Alzheimer Disease], Genome-wide association study, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Article, PICALM, Cohort Studies, Alzheimer Disease, ddc:570, PSEN2, Genetics, medicine, Humans, Genetic Predisposition to Disease, Age of Onset, Aged, Genetic association, Aged, 80 and over, Middle Aged, medicine.disease, Genetic Loci, Case-Control Studies, Female, Human medicine, Alzheimer's disease, statistics & numerical data [Genome-Wide Association Study], Genome-Wide Association Study
Abstract

Eleven susceptibility loci for late-onset Alzheimer's disease (LOAD) were identified by previous studies; however, a large portion of the genetic risk for this disease remains unexplained. We conducted a large, two-stage meta-analysis of genome-wide association studies (GWAS) in individuals of European ancestry. In stage 1, we used genotyped and imputed data (7,055,881 SNPs) to perform meta-analysis on 4 previously published GWAS data sets consisting of 17,008 Alzheimer's disease cases and 37,154 controls. In stage 2, 11,632 SNPs were genotyped and tested for association in an independent set of 8,572 Alzheimer's disease cases and 11,312 controls. In addition to the APOE locus (encoding apolipoprotein E), 19 loci reached genome-wide significance (P < 5 x 10(-8)) in the combined stage 1 and stage 2 analysis, of which 11 are newly associated with Alzheimer's disease.

Published
2013
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136. A novel Alzheimer disease locus located near the gene encoding tau protein

Author

Jun, G., Ibrahim-Verbaas, C.A., Vronskaya, M., Lambert, J.-., Chung, J., Naj, A.C., Kunkle, B.W., Wang, L.-., Bis, J.C., Bellenguez, C., Harold, D., Lunetta, K.L., Destefano, A.L., Grenier-Boley, B., Sims, R., Beecham, G.W., Smith, A.V., Chouraki, V., Hamilton-Nelson, K.L., Ikram, M.A., Fievet, N., Denning, N., Martin, E.R., Schmidt, H., Kamatani, Y., Dunstan, M.L., Valladares, O., Laza, A.R., Zelenika, D., Ramirez, A., Foroud, T.M., Choi, S.-., Boland, A., Becker, T., Kukull, W.A., Van Der Lee, S.J., Pasquier, F., Cruchaga, C., Beekly, D., Fitzpatrick, A.L., Hanon, O., Gill, M., Barber, R., Gudnason, V., Campion, D., Love, S., Bennett, D.A., Amin, N., Berr, C., Tsolaki, M., Buxbaum, J.D., Lopez, O.L., Deramecourt, V., Fox, N.C., Cantwell, L.B., Tárraga, L., Dufouil, C., Hardy, J., Crane, P.K., Eiriksdottir, G., Hannequin, D., Clarke, R., Evans, D., Mosley, T.H., Letenneur, L., Brayne, C., Maier, W., De Jager, P., Emilsson, V., Dartigues, J.-., Hampel, H., Kamboh, M.I., De Bruijn, R.F.A.G., Tzourio, C., Pastor, P., Larson, E.B., Rotter, J.I., O'Donovan, M.C., Montine, T.J., Nalls, M.A., Mead, S., Reiman, E.M., Jonsson, P.V., Holmes, C., St George-Hyslop, P.H., Boada, M., Passmore, P., Wendland, J.R., Schmidt, R., Morgan, K., Winslow, A.R., Powell, J.F., Carasquillo, M., Younkin, S.G., Jakobsdóttir, J., Kauwe, J.S.K., Wilhelmsen, K.C., Rujescu, D., Nöthen, M.M., Hofman, A., Jones, L., Haines, J.L., Psaty, B.M., Van Broeckhoven, C., Holmans, P., Launer, L.J., Mayeux, R., Lathrop, M., Goate, A.M., Escott-Price, V., Seshadri, S., Pericak-Vance, M.A., Amouyel, P., Williams, J., Van Duijn, C.M., Schellenberg, G.D., Farrer, L.A., Adams, P.M., Albert, M.S., Albin, R.L., Apostolova, L.G., Arnold, S.E., Asthana, S., Atwood, C.S., Baldwin, C.T., Barmada, M.M., Barnes, L.L., Beach, T.G., Becker, J.T., Bigio, E.H., Bird, T.D., Blacker, D., Boeve, B.F., Bowen, J.D., Boxer, A., Burke, J.R., Cairns, N.J., Cao, C., Carlson, C.S., Carlsson, C.M., Carney, R.M., Carrasquillo, M.M., Carroll, S.L., Chui, H.C., Clark, D.G., Corneveaux, J., Cribbs, D.H., Crocco, E.A., De Jager, P.L., Decarli, C., Dekosky, S.T., Yesim Demirci, F., Dick, M., Dickson, D.W., Doody, R.S., Duara, R., Ertekin-Taner, N., Faber, K.M., Fairchild, T.J., Fallon, K.B., Farlow, M.R., Ferris, S., Frosch, M.P., Galasko, D.R., Gearing, M., Geschwind, D.H., Ghetti, B., Gilbert, J.R., Glass, J.D., Graff-Radford, N.R., Green, R.C., Growdon, J.H., Hakonarson, H., Hamilton, R.L., Harrell, L.E., Head, E., Honig, L.S., Huebinger, R.M., Huentelman, M.J., Hulette, C.M., Hyman, B.T., Jarvik, G.P., Jicha, G.A., Jin, L., Karydas, A., Kaye, J.A., Kim, R., Koo, E.H., Kowall, N.W., Kramer, J.H., Laferla, F.M., Lah, J.J., Leverenz, J.B., Levey, A.I., Ge, L., Lieberman, A.P., Lin, C., Lyketsos, C.G., Mack, W.J., Marson, D.C., Martiniuk, F., Mash, D.C., Masliah, E., Mccormick, W.C., Mccurry, S.M., Mcdavid, A.N., Mckee, A.C., Mesulam, M., Miller, B.L., Miller, C.A., Miller, J.W., Morris, J.C., Mukherjee, S., Murrell, J.R., Myers, A.J., O'Bryant, S., Olichney, J.M., Pankratz, V.S., Parisi, J.E., Partch, A., Paulson, H.L., Perry, W., Peskind, E., Petersen, R.C., Pierce, A., Poon, W.W., Potter, H., Quinn, J.F., Raj, A., Raskind, M., Reisberg, B., Reisch, J.S., Reitz, C., Ringman, J.M., Roberson, E.D., Rogaeva, E., Rosen, H.J., Rosenberg, R.N., Royall, D.R., Sager, M.A., Sano, M., Saykin, A.J., Schneider, J.A., Schneider, L.S., Seeley, W.W., Smith, A.G., Sonnen, J.A., Spina, S., Stern, R.A., Tanzi, R.E., Thornton-Wells, T.A., Trojanowski, J.Q., Troncoso, J.C., Tsuang, D.W., Van Deerlin, V.M., Van Eldik, L.J., Vardarajan, B.N., Vinters, H.V., Vonsattel, J.P., Weintraub, S., Welsh-Bohmer, K.A., Williamson, J., Wishnek, S., Woltjer, R.L., Wright, C.B., Chuang-Kuo, W., Chang-En, Y., Lei, Y., Thomas, C., Gerrish, A., Chapman, J., Stretton, A., Morgan, A., Oldham, H., Owen, M.J., Kehoe, P.G., Medway, C., Brown, K., Lord, J., Turton, J., Hooper, N.M., Vardy, E., Warren, J.D., Schott, J.M., Uphill, J., Hollingworth, P., Ryan, N., Rossor, M., Collinge, J., Ben-Shlomo, Y., Makrina, D., Gkatzima, O., Lupton, M., Koutroumani, M., Avramidou, D., Germanou, A., Jessen, F., Riedel-Heller, S., Dichgans, M., Heun, R., Kölsch, H., Schürmann, B., Herold, C., Lacour, A., Drichel, D., Hoffmann, P., Kornhuber, J., Wei, G., Feulner, T., Mayhaus, M., Pichler, S., Riemenschneider, M., van den Bussche, H., Lawlor, B., Lynch, A., Mann, D., Smith, A.D., Warden, D., Wilcock, G., Heuser, I., Wiltfang, J., Frölich, L., Hüll, M., Mayo, K., Livingston, G., Bass, N.J., Gurling, H., Mcquillin, A., Gwilliam, R., Deloukas, P., Al-Chalabi, A., Shaw, C.E., Singleton, A.B., Guerreiro, R., Russo, G., Jöckel, K., Moebus, S., Klopp, N., Wichmann, H.-., Li, M., Bisceglio, G., Fisher, E., Warner, N., Pickering-Brown, S., Craig, D., Johnston, J.A., Mcguinness, B., Todd, S., Rubinsztein, D.C., Lovestone, S., Bayer, A., Gallacher, J., Proitsi, P., Ortega-Cubero, Saraadams, P., Albert, M., Albin, R., Apostolova, L., Arnold, S., Atwood, C., Baldwin, C., Barmada, M., Barnes, L., Beach, T., Becker, J., Bigio, E., Bird, T., Boeve, B., Bowen, J., Burke, J., Cairns, N., Carlson, C., Carlsson, C., Carney, R., Carrasquillo, M., Carroll, S., Chui, H., Clark, D., Cribbs, D., Crocco, E., De Jager PL, Dekosky, S., Demirci, F., Dickson, D., Doody, R., Faber, K., Fairchild, T., Fallon, K., Farlow, M., Frosch, M., Galasko, D., Geschwind, D., Gilbert, J., Glass, J., Graff-Radford, N., Green, R., Growdon, J., Hamilton, R., Harrell, L., Honig, L., Huebinger, R., Huentelman, M., Hulette, C., Hyman, B., Jarvik, G., Jicha, G., Kauwe, J., Kaye, J., Koo, E., Kowall, N., Kramer, J., Laferla, F., Lah, J., Leverenz, J., Levey, A., Li, G., Lieberman, A., Lopez, O., Lyketsos, C., Mack, W., Marson, D., Mash, D., Mccormick, W., Mccurry, S., Mcdavid, A., Mckee, A., Miller, B., Miller, C., Miller, J., Morris, J., Murrell, J., Myers, A., Olichney, J., Pankratz, V., Parisi, J., Paulson, H., Petersen, R., Poon, W., Quinn, J., Reisch, J., Ringman, J., Roberson, E., Rosen, H., Rosenberg, R., Royall, D., Sager, M., Saykin, A., Schneider, J., Schneider, L., Seeley, W., Smith, A., Sonnen, J., Stern, R., Tanzi, R., Thornton-Wells, T., Trojanowski, J., Troncoso, J., Tsuang, D., Van Deerlin VM, Van Eldik LJ, Vardarajan, B., Vinters, H., Vonsattel, J., Welsh-Bohmer, K., Woltjer, R., Wright, C., Wu, C., Yu, C., Yu, L., Au, R., Wolf, P., Beiser, A., Satizabal, C., Uitterlinden, A., Rivadeneira, F., Koudstaal, P., Longstreth WT Jr, Kuller, L., Lumley, T., Rice, K., Harris, T., Nalls, M., Marksteiner, J., Dal-Bianco, P., Töglhofer, A., Freudenberger, P., Ransmayr, G., Benke, T., Toeglhofer, A., Boerwinkle, E., Bressler, J., Fornage, M., Morón, F., Hernández, I., Roca, M., Mauleón, A., Alegret, M., Ramírez-Lorca, R., González-Perez, A., Alpérovitch, A., Alvarez, V., Barberger-Gateau, P., Bettens, K., Bossù, P., Brice, A., Bullido, M., Caffara, P., Clarimon, J., Combarros, O., Coto, E., Del Zampo, M., Delepine, M., Deniz Naranjo MC, Epelbaum, J., Fratiglioni, L., Galimberti, D., Graff, C., Hiltunen, M., Ingelsson, M., Keller, L., Lannfelt, L., Llèo, A., Mancuso, M., Mateo, I., Mecocci, P., Nacmias, B., Panza, F., Pilotto, A., Garcia, F., Scarpini, E., Seripa, D., Sleegers, K., Soininen, H., Sorbi, S., Spalletta, G., Wallon, D., Owen, M., Kehoe, P., Hooper, N., Warren, J., Schott, J., Gu, W., Bass, N., Shaw, C., Singleton, A., Wichmann, H., Ma, L., Johnston, J., Rubinsztein, D., Ortega-Cubero, S., Epidemiology, Neurology, and Internal Medicine

Subjects
0301 basic medicine, Apolipoprotein E, Apolipoprotein E4, Single-nucleotide polymorphism, Locus (genetics), Genome-wide association study, genetics [Alzheimer Disease], MAPT protein, human, tau Proteins, Polymorphism, Single Nucleotide, Article, Chromosomes, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Alzheimer Disease, Settore BIO/13 - Biologia Applicata, Humans, ddc:610, Polymorphism, Molecular Biology, Biology, genetics [Apolipoprotein E4], Genetic association, Temporal cortex, Genetics, Pair 17, Haplotype, Single Nucleotide, 3. Good health, Chromosome 17 (human), genetics [tau Proteins], Chemistry, 030104 developmental biology, Psychiatry and Mental Health, Chromosomes, Human, Pair 17, Genome-Wide Association Study, Settore MED/26 - Neurologia, Human medicine, Psychology, 030217 neurology & neurosurgery, Human
Abstract

APOE epsilon 4, the most significant genetic risk factor for Alzheimer disease (AD), may mask effects of other loci. We re-analyzed genome-wide association study (GWAS) data from the International Genomics of Alzheimer's Project (IGAP) Consortium in APOE epsilon 4+ (10 352 cases and 9207 controls) and APOE epsilon 4 - (7184 cases and 26 968 controls) subgroups as well as in the total sample testing for interaction between a single-nucleotide polymorphism (SNP) and APOE e4 status. Suggestive associations (P < 1x10(-4)) in stage 1 were evaluated in an independent sample (stage 2) containing 4203 subjects (APOE epsilon 4+: 1250 cases and 536 controls; APOE epsilon 4 -: 718 cases and 1699 controls). Among APOE epsilon 4 - subjects, novel genome-wide significant (GWS) association was observed with 17 SNPs (all between KANSL1 and LRRC37A on chromosome 17 near MAPT) in a meta-analysis of the stage 1 and stage 2 data sets (best SNP, rs2732703, P = 5.8 x 10(-9)). Conditional analysis revealed that rs2732703 accounted for association signals in the entire 100-kilobase region that includes MAPT. Except for previously identified AD loci showing stronger association in APOE epsilon 4+ subjects (CR1 and CLU) or APOE epsilon 4 - subjects (MS4A6A/MS4A4A/MS4A6E), no other SNPs were significantly associated with AD in a specific APOE genotype subgroup. In addition, the finding in the stage 1 sample that AD risk is significantly influenced by the interaction of APOE with rs1595014 in TMEM106B (P = 1.6 x 10(-7)) is noteworthy, because TMEM106B variants have previously been associated with risk of frontotemporal dementia. Expression quantitative trait locus analysis revealed that rs113986870, one of the GWS SNPs near rs2732703, is significantly associated with four KANSL1 probes that target transcription of the first translated exon and an untranslated exon in hippocampus (P

Published
2016
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139. Perioperative chemotherapy with FOLFOX4 and surgery versus surgery alone for resectable liver metastases from colorectal cancer (EORTC Intergroup trial 40983): a randomised controlled trial

Author

Nordlinger, B, Sorbye, H, Glimelius, B, Poston, Gj, Schlag, Pm, Rougier, P, Bechstein, Wo, Primrose, Jn, Walpole, Et, FINCH JONES, M, Jaeck, D, Mirza, D, Parks, Rw, Collette, L, Praet, M, Bethe, U, VAN CUTSEM, E, Scheithauer, W, Gruenberger, T, Hohenberger, W, Iveson, T, Karner, J, Levi, J, Hugh, T, DE GREVE, J, Chan, A, Davidson, B, Lindner, P, Peeters, M, Stein, B, Diamond, T, Ducreux, M, Lasser, P, Graeven, U, Paillot, B, Doran, J, Gouillat, C, Iesalnieks, I, Jauch, Kw, JAGOT LACOUSSIERE, P, Jansen, Rl, Koehne, H, Konopke, R, Otto, F, Sherlock, D, VAN HAZEL, G, Ackland, S, Bedenne, L, Bories, E, CLAVERO FABRI MC, Conroy, T, KAMINSKY FORRETT MC, Husseini, F, Karapetis, C, Mãœller, L, Price, T, Rosenberg, R, Schott, J, Tschmelitsch, J, VAN LAETHEM JL, Wals, J, Weimann, A, Arnaud, Jp, Arsene, D, Auby, D, Bhattacharya, S, Cebon, E, Cherqui, D, Confente, C, Dousset, B, Frickhofen, N, Frilling, A, Evan, P, Ganju, V, Hã–ffken, K, Lazorthes, F, Letoublon, C, Madroszyk, A, Nitti, Donato, Orr, B, Pariente, Ea, Pector, Jc, Raoul, Jl, Rees, M, Ridwelski, K, Rouanet, P, Toogood, Gj, Vergauwe, P, Wilke, Hj, Kaplan, R, Horiot, Jc, Littbrand, B, Awada, A, Stenning, S, Lejeune, F., Haukeland University Hospital, University of Bergen (UiB), Uppsala Universitet [Uppsala], Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Centre de Chirurgie Viscérale, Hépatique et de Transplantation Multiorganes, Université Louis Pasteur - Strasbourg I, European Organisation for Research and Treatment of Cancer [Bruxelles] (EORTC), European Cancer Organisation [Bruxelles] (ECCO), University Hospitals Leuven [Leuven], Centre Énergétique et Procédés (CEP), MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Hémodynamique, Interaction Fibrose et Invasivité tumorales Hépatiques (HIFIH), and Université d'Angers (UA)

Subjects
Adult, Male, medicine.medical_specialty, Organoplatinum Compounds, Colorectal cancer, [SDV]Life Sciences [q-bio], 030230 surgery, Perioperative Care, 03 medical and health sciences, 0302 clinical medicine, Hepatic arterial infusion, Antineoplastic Combined Chemotherapy Protocols, medicine, Humans, Aged, business.industry, Liver Neoplasms, Hazard ratio, Cancer, General Medicine, Perioperative, Middle Aged, medicine.disease, Combined Modality Therapy, 3. Good health, Surgery, Oxaliplatin, Clinical trial, 030220 oncology & carcinogenesis, Female, Fluorouracil, Colorectal Neoplasms, Liver cancer, business, medicine.drug
Abstract

Summary Background Surgical resection alone is regarded as the standard of care for patients with liver metastases from colorectal cancer, but relapse is common. We assessed the combination of perioperative chemotherapy and surgery compared with surgery alone for patients with initially resectable liver metastases from colorectal cancer. Methods This parallel-group study reports the trial's final data for progression-free survival for a protocol unspecified interim time-point, while overall survival is still being monitored. 364 patients with histologically proven colorectal cancer and up to four liver metastases were randomly assigned to either six cycles of FOLFOX4 before and six cycles after surgery or to surgery alone (182 in perioperative chemotherapy group vs 182 in surgery group). Patients were centrally randomised by minimisation, adjusting for centre and risk score. The primary objective was to detect a hazard ratio (HR) of 0·71 or less for progression-free survival. Primary analysis was by intention to treat. Analyses were repeated for all eligible (171 vs 171) and resected patients (151 vs 152). This trial is registered with ClinicalTrials.gov, number NCT00006479. Findings In the perioperative chemotherapy group, 151 (83%) patients were resected after a median of six (range 1–6) preoperative cycles and 115 (63%) patients received a median six (1–8) postoperative cycles. 152 (84%) patients were resected in the surgery group. The absolute increase in rate of progression-free survival at 3 years was 7·3% (from 28·1% [95·66% CI 21·3–35·5] to 35·4% [28·1–42·7]; HR 0·79 [0·62–1·02]; p=0·058) in randomised patients; 8·1% (from 28·1% [21·2–36·6] to 36·2% [28·7–43·8]; HR 0·77 [0·60–1·00]; p=0·041) in eligible patients; and 9·2% (from 33·2% [25·3–41·2] to 42·4% [34·0–50·5]; HR 0·73 [0·55–0·97]; p=0·025) in patients undergoing resection. 139 patients died (64 in perioperative chemotherapy group vs 75 in surgery group). Reversible postoperative complications occurred more often after chemotherapy than after surgery (40/159 [25%] vs 27/170 [16%]; p=0·04). After surgery we recorded two deaths in the surgery alone group and one in the perioperative chemotherapy group. Interpretation Perioperative chemotherapy with FOLFOX4 is compatible with major liver surgery and reduces the risk of events of progression-free survival in eligible and resected patients. Funding Swedish Cancer Society, Cancer Research UK, Ligue Nationale Contre le Cancer, US National Cancer Institute, Sanofi-Aventis.

Published
2008
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142. TRPM4 variants associated with long QT syndrome

Author

Thomas, H., primary, Liu, H., additional, Salle, L., additional, Schott, J., additional, Ducreux, C., additional, Millat, G., additional, Chevalier, P., additional, Probst, V., additional, Guinamard, R., additional, and Bouvagnet, P., additional

Published
2017
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145. Partial Volume Correction of Amyvid and FDG PET data using the discrete iterative Yang technique

Author

Dickson, J. C., Erlandsson, K., Lehmann, M., Modat, M., Burgos, Ninon, Groves, A., Schott, J., Laboratoire de Biophotonique et Pharmacologie - UMR 7213 (LBP), Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA)), Centre for Medical Image Computing (CMIC), University College of London [London] (UCL), Géosciences Environnement Toulouse (GET), Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Observatoire Midi-Pyrénées (OMP), and Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)

Subjects
[INFO.INFO-IM]Computer Science [cs]/Medical Imaging, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2015
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147. Odd and even partial waves of f ηπ−ηπ− and η′π−η′π− in π−p→η(′)π−pπ−p→η(′)π−p at 191 GeV/c

Author

Adolph, C., Akhunzyanov, R., Alexeev, M. G., Alexeev, G. D., Amoroso, A., Andrieux, V., Anosov, V., Austregesilo, A., Badełek, B., Balestra, F., Barth, J., Baum, G., Bek, R., Bedfer, Y., Berlin, A., Bernhardm, J., K. Bicker, J, Q, E. R. Bielert, J, J. Bieling, D, R. Birsa, Y, J. Bisplinghoff, C, M. Bodlak, S, M. Boer, V, P. Bordao, L, Bradamante, Franco, Y, C. Braun, H, Bressan, Andrea, M. Büchele, I, E. Burtin, V, L. Capozza, V, M. Chiosso, Aa, Suchung, S. U. Chung q, Acicuttin, A. Cicuttin z, M. L. Crespo, Z, Q. Curiel, V, DALLA TORRE, Silvia, Dasgupta, SHUDDHA SHANKAR, S. Dasgupta, Y, O. Y. u. Denisov, Ac, S. V. Donskov, U, N. Doshita, Ag, Duic, Venicio, W. Dünnweber, P, M. Dziewiecki, Af, Aefremov, A. Efremov g, C. Elia, X, Pdeversheim, P. D. Eversheim c, Weyrich, W. Eyrich h, M. Faessler, P, A. Ferrero, V, M. Finger, S, M. FingerJr, S, H. Fscher, I, C. Franco, L, Dufresnevonhoheneschem, N., J, J. M. Friedrich, Q, V. Frolov, J, F. Gautheron, B, Opgavrichtchouk, O. P. Gavrichtchouk g, S. Gerassimv, O, R. Geyer, P, I. Gnesi, Aa, B. Gobbo, Y, S. Goertz, D, M. Gorzellk, I, S. Grabmüller, Q, A. Grasso, Aa, B. Grube, Q, Tgrussenmeyer, T. Grussenmeyer i, A. Guskov, G, Fhaas, F. Haas q, Vonharrachm, D., D. Hahne, D, R. Hashimoto, Ag, Fhheinsius, F. H. Heinsius i, F. Herrmann, I, Fhinterberger, F. Hinterberger c, Ch Höppner, C. h. Höppner q, N. Hoikawa, R, N. d’Hose, V, S. Huber, Q, S. Ishimoto, Ag, A. Ivanov, G, Yuivanshin, Y. u. Ivanshin g, T. Iwata, Ag, R. Jahn, C, V. Jary, T, Jasinskim, P., P. Jörg, I, R. Joosten, C, Kabußm, E., B. Ketzer, Q, G. V. Khastov, U, Yuakhokhlov, Y. u. A. Khokhlov u, Yukisselev, Y. u. Kisselev g, F. Klein, D, K. Klimaszewski, Ad, J. H. Koivuniemi, B, V. N. Kolosov, U, K. Kondo, Ag, K. Köngsmann, I, I. Knrv, O, Vfkonstantinov, V. F. Konstantinov u, A. M. Kotzinian, Aa, O. Kouznetsov, G, M. Krämer, Q, Z. V. Kroumchtein, G, N. Kuchinski, G, Fkunne, F. Kunne v, K. Kurek, Ad, R. P. Kurjata, Af, Aalednev, A. A. Lednev u, A. Lemann, H, M. Leillain, V, Levorato, Stefano, Lichtenstadtw, J., A. Maggiora, Ac, Magnon, A., Makke, Nour, G. K. Mallot, J, C. Marchand, V, Martin, Anna, J. Marzec, Af, Matousek, Jan, H. Matsuda, Ag, Tmatsuda, T. Matsuda n, G. Meshcheryakov, G, Wmeyer, W. Meyer b, T. Michigami, Ag, Yuvmikhailov, Y. u. V. Mikhailov u, Y. Miyachi, Ag, A. Naaytsev, G, T. Nagel, Q, Fnerlingm, F. Nerlingm, S. Neubert, Q, D. Neyret, V, J. Novy, T, W. DNowak, W. D. Nowak i, Asnunes, A. S. Nunes l, Agolshevsky, A. G. Olshevsky g, I. Orlov, G, Ostrickm, M., R. Panknin, D, D. Panzieri, Ab, B. Parsamyan, Aa, Spaul, S. Paul q, D. V. Peshekhonov, G, S. Platchko, V, Pochodzallam, J., Vapolyakov, V. A. Polyakov u, J. Pretz, D, M. Quaresma, L, C. Quintans, L, S. Ramos, L, C. Regal, I, G. Reicherz, B, E. Rocco, J, N. S. Rossiyskaya, G, D. I. Ryabchikov, U, A. Rychter, Af, V. D. Samoylenko, U, A. Sandacz, Ad, S. Sarkar, F, Iasavin, I. A. Savin g, G. Sbrizzai, X, Schiavon, Paolo, C. Schll, I, Tschlüter, T. Schlüter p, K. Schmdt, I, H. Schmieen, D, K. Schönning, J, S. Schopferer, I, M. Schott, J, Oyushevchenko, O. Y. u. Shevchenko g, L. Siva, L, L. Sinha, F, S. Srtl, I, M. Slunecka, G, S. Sosio, Aa, Sozzi, Federica, Asrnka, A. Srnka e, L. Steiger, Y, M. Stoarski, L, M. Sulc, K, R. Sulej, Ad, H. Suzuki, Ag, A. Szabelski, Ad, Tszameitat, T. Szameitat i, P. Sznajder, Ad, Takekawa, Stefano, J. terWolbeek, I, S. Tessaro, Y, Ftessarotto, F. Tessarotto y, Fthibaud, F. Thibaud v, S. Uhl, Q, Umanp, I., M. Virius, T, L. Wang, B, Weisrockm, T., Wilfertm, M., R. Winmolers, D, H. Wollny, V, Zarembaaf, K., M. Zavertyaev, O, E. Zemlyanichkina, G, M. Ziembicki, Af, C., Adolph, R., Akhunzyanov, M. G., Alexeev, G. D., Alexeev, A., Amoroso, V., Andrieux, V., Anosov, A., Austregesilo, B., Badełek, F., Balestra, J., Barth, G., Baum, R., Bek, Y., Bedfer, A., Berlin, Bernhardm, J., J, K. Bicker, Q, J, E. R. Bielert, D, J. Bieling, Y, R. Birsa, C, J. Bisplinghoff, S, M. Bodlak, V, M. Boer, L, P. Bordao, Bradamante, Franco, Y, H, C. Braun, Bressan, Andrea, I, M. Büchele, V, E. Burtin, V, L. Capozza, Aa, M. Chiosso, Ac, Suchung, S. U. Chung q, Acicuttin, A. Cicuttin z, Z, M. L. Crespo, V, Q. Curiel, DALLA TORRE, Silvia, Dasgupta, SHUDDHA SHANKAR, Y, S. Dasgupta, Ac, O. Y. u. Denisov, U, S. V. Donskov, Ag, N. Doshita, Duic, Venicio, P, W. Dünnweber, Af, M. Dziewiecki, Aefremov, A. Efremov g, X, C. Elia, Pdeversheim, P. D. Eversheim c, Weyrich, W. Eyrich h, P, M. Faessler, V, A. Ferrero, S, M. Finger, S, M. FingerJr, I, H. Fscher, L, C. Franco, Dufresnevonhoheneschem, N., J, Q, J. M. Friedrich, J, V. Frolov, B, F. Gautheron, Opgavrichtchouk, O. P. Gavrichtchouk g, O, S. Gerassimv, P, R. Geyer, Aa, I. Gnesi, Y, B. Gobbo, D, S. Goertz, I, M. Gorzellk, Q, S. Grabmüller, Aa, A. Grasso, Q, B. Grube, Tgrussenmeyer, T. Grussenmeyer i, G, A. Guskov, Fhaas, F. Haas q, Vonharrachm, D., D, D. Hahne, Ag, R. Hashimoto, Fhheinsius, F. H. Heinsius i, I, F. Herrmann, Fhinterberger, F. Hinterberger c, Ch Höppner, C. h. Höppner q, R, N. Hoikawa, V, N. d’Hose, Q, S. Huber, Ag, S. Ishimoto, G, A. Ivanov, Yuivanshin, Y. u. Ivanshin g, Ag, T. Iwata, C, R. Jahn, T, V. Jary, Jasinskim, P., I, P. Jörg, C, R. Joosten, Kabußm, E., Q, B. Ketzer, U, G. V. Khastov, Yuakhokhlov, Y. u. A. Khokhlov u, Yukisselev, Y. u. Kisselev g, D, F. Klein, Ad, K. Klimaszewski, B, J. H. Koivuniemi, U, V. N. Kolosov, Ag, K. Kondo, I, K. Köngsmann, O, I. Knrv, Vfkonstantinov, V. F. Konstantinov u, Aa, A. M. Kotzinian, G, O. Kouznetsov, Q, M. Krämer, G, Z. V. Kroumchtein, G, N. Kuchinski, Fkunne, F. Kunne v, Ad, K. Kurek, Af, R. P. Kurjata, Aalednev, A. A. Lednev u, H, A. Lemann, V, M. Leillain, Levorato, Stefano, Lichtenstadtw, J., Ac, A. Maggiora, A., Magnon, Makke, Nour, J, G. K. Mallot, V, C. Marchand, Martin, Anna, Af, J. Marzec, Matousek, Jan, Ag, H. Matsuda, Tmatsuda, T. Matsuda n, G, G. Meshcheryakov, Wmeyer, W. Meyer b, Ag, T. Michigami, Yuvmikhailov, Y. u. V. Mikhailov u, Ag, Y. Miyachi, G, A. Naaytsev, Q, T. Nagel, Fnerlingm, F. Nerlingm, Q, S. Neubert, V, D. Neyret, T, J. Novy, W. DNowak, W. D. Nowak i, Asnunes, A. S. Nunes l, Agolshevsky, A. G. Olshevsky g, G, I. Orlov, Ostrickm, M., D, R. Panknin, Ab, D. Panzieri, Aa, B. Parsamyan, Spaul, S. Paul q, G, D. V. Peshekhonov, V, S. Platchko, Pochodzallam, J., Vapolyakov, V. A. Polyakov u, D, J. Pretz, L, M. Quaresma, L, C. Quintan, L, S. Ramo, I, C. Regal, B, G. Reicherz, J, E. Rocco, G, N. S. Rossiyskaya, U, D. I. Ryabchikov, Af, A. Rychter, U, V. D. Samoylenko, Ad, A. Sandacz, F, S. Sarkar, Iasavin, I. A. Savin g, X, G. Sbrizzai, Schiavon, Paolo, I, C. Schll, Tschlüter, T. Schlüter p, I, K. Schmdt, D, H. Schmieen, J, K. Schönning, I, S. Schopferer, J, M. Schott, Oyushevchenko, O. Y. u. Shevchenko g, L, L. Siva, F, L. Sinha, I, S. Srtl, G, M. Slunecka, Aa, S. Sosio, Sozzi, Federica, Asrnka, A. Srnka e, Y, L. Steiger, L, M. Stoarski, K, M. Sulc, Ad, R. Sulej, Ag, H. Suzuki, Ad, A. Szabelski, Tszameitat, T. Szameitat i, Ad, P. Sznajder, Takekawa, Stefano, I, J. terWolbeek, Y, S. Tessaro, Ftessarotto, F. Tessarotto y, Fthibaud, F. Thibaud v, Q, S. Uhl, Umanp, I., T, M. Viriu, B, L. Wang, Weisrockm, T., Wilfertm, M., D, R. Winmoler, V, H. Wollny, Zarembaaf, K., O, M. Zavertyaev, G, E. Zemlyanichkina, and Af, M. Ziembicki

Subjects
resonance, QCD, non qbarq states
Abstract

Exclusive production of ηπ− and η π− has been studied with a 191 GeV/c π− beam impinging on a hydrogen target at COMPASS (CERN). Partial-wave analyses reveal different odd/even angular momentum (L) characteristics in the inspected invariant mass range up to 3 GeV/c2. A striking similarity between the two systems is observed for the L = 2, 4, 6 intensities (scaled by kinematical factors) and the relative phases. The known resonances a2(1320) and a4(2040) are in line with this similarity. In contrast, a strong enhancement of η π− over ηπ− is found for the L = 1, 3, 5 waves, which carry non-q¯q quantum numbers. The L = 1 intensity peaks at 1.7 GeV/c2 in η π− and at 1.4 GeV/c2 in ηπ−, the corresponding phase motions with respect to L =2 are different.

Published
2015

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