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2. Leveraging Peripheral Systems Data in the Design of Data-Driven Services to Increase Resource Efficiency

Author

Kaufmann, T., Niemietz, P., Bergs, T., Behrens, Bernd-Arno, Series Editor, Grzesik, Wit, Series Editor, Ihlenfeldt, Steffen, Series Editor, Kara, Sami, Series Editor, Ong, Soh-Khim, Series Editor, Tomiyama, Tetsuo, Series Editor, Williams, David, Series Editor, Liewald, Mathias, editor, Verl, Alexander, editor, Bauernhansl, Thomas, editor, and Möhring, Hans-Christian, editor

Published
2023
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3. Game-Theoretic Concept for Determining the Price of Time Series Data

Author

Mayer, J., Kaufmann, T., Niemietz, P., Bergs, T., Behrens, Bernd-Arno, Series Editor, Grzesik, Wit, Series Editor, Ihlenfeldt, Steffen, Series Editor, Kara, Sami, Series Editor, Ong, Soh-Khim, Series Editor, Tomiyama, Tetsuo, Series Editor, Williams, David, Series Editor, Liewald, Mathias, editor, Verl, Alexander, editor, Bauernhansl, Thomas, editor, and Möhring, Hans-Christian, editor

Published
2023
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5. Hadron-in-jet production at partonic threshold

Author

Kaufmann, T, Liu, X, Mukherjee, A, Ringer, F, and Vogelsang, W

Subjects
Jets, QCD Phenomenology, Mathematical Physics, Atomic, Molecular, Nuclear, Particle and Plasma Physics, Quantum Physics, Nuclear & Particles Physics, Atomic, Molecular, Nuclear, Particle and Plasma Physics
Abstract

We consider the longitudinal momentum distribution of hadrons inside jets in proton-proton collisions. At partonic threshold large double logarithmic corrections arise which need to be resummed to all orders. We develop a factorization formalism within SCET that allows for the joint resummation of threshold and jet radius logarithms. We achieve next-to-leading logarithmic NLL′ accuracy by including non-global logarithms in the leading-color approximation. Overall, we find that the threshold resummation leads to a sizable enhancement of the cross section and a reduced QCD scale dependence, suggesting that the all-order resummation can be important for the reliable extraction of fragmentation functions in global analyses when jet substructure data is included.

Published
2020

6. Abundant pleiotropy across neuroimaging modalities identified through a multivariate genome-wide association study

Author

Tissink, E P, Shadrin, A A, van der Meer, D, Parker, N, Hindley, G, Roelfs, D, Frei, O, Fan, C C, Nagel, M, Nærland, T, Budisteanu, M, Djurovic, S, Westlye, L T, van den Heuvel, M P, Posthuma, D, Kaufmann, T, Dale, A M, Andreassen, O A, Tissink, E P, Shadrin, A A, van der Meer, D, Parker, N, Hindley, G, Roelfs, D, Frei, O, Fan, C C, Nagel, M, Nærland, T, Budisteanu, M, Djurovic, S, Westlye, L T, van den Heuvel, M P, Posthuma, D, Kaufmann, T, Dale, A M, and Andreassen, O A

Abstract

Genetic pleiotropy is abundant across spatially distributed brain characteristics derived from one neuroimaging modality (e.g. structural, functional or diffusion magnetic resonance imaging [MRI]). A better understanding of pleiotropy across modalities could inform us on the integration of brain function, micro- and macrostructure. Here we show extensive genetic overlap across neuroimaging modalities at a locus and gene level in the UK Biobank (N = 34,029) and ABCD Study (N = 8607). When jointly analysing phenotypes derived from structural, functional and diffusion MRI in a genome-wide association study (GWAS) with the Multivariate Omnibus Statistical Test (MOSTest), we boost the discovery of loci and genes beyond previously identified effects for each modality individually. Cross-modality genes are involved in fundamental biological processes and predominantly expressed during prenatal brain development. We additionally boost prediction of psychiatric disorders by conditioning independent GWAS on our multimodal multivariate GWAS. These findings shed light on the shared genetic mechanisms underlying variation in brain morphology, functional connectivity, and tissue composition.

Published
2024

8. Parton Radiation and Fragmentation from LHC to FCC-ee

Author

d'Enterria, David, Skands, Peter Z., Anderle, D., Anulli, F., Aparisi, J., Bell, G., Bertone, V., Bierlich, C., Carrazza, S., Corcella, G., d'Enterria, D., Dasgupta, M., Garcia, I., Gehrmann, T., Gituliar, O., Hamacher, K., Hartland, N. P., Hoang, A. H., Hornig, A., Jadach, S., Kaufmann, T., Kluth, S., Kolodrubetz, D. W., Kusina, A., Lee, C., Luisoni, G., Mateu, V., Matevosyan, H., Metzger, W., Moch, S. O., Monni, P. F., Nachman, B., Nocera, E. R., Perelló, M., Placzek, W., Plätzer, S., Perez-Ramos, R., Rauco, G., Richardson, P., Ringer, F., Rojo, J., Roloff, Ph., Sakaki, Y., Sato, N., Simoniello, R., Sjöstrand, T., Skands, P. Z., Skrzypek, M., Soyez, G., Stewart, I. W., Stratmann, M., Talbert, J., Todorova, S., Tokar, S., Vos, M., and Vossen, A.

Subjects
High Energy Physics - Phenomenology, High Energy Physics - Experiment
Abstract

This document collects the proceedings of the "Parton Radiation and Fragmentation from LHC to FCC-ee" workshop (http://indico.cern.ch/e/ee\_jets16) held at CERN in Nov. 2016. The writeup reviews the latest theoretical and experimental developments on parton radiation and parton-hadron fragmentation studies --including analyses of LEP, B-factories, and LHC data-- with a focus on the future perspectives reacheable in $e^+e^-$ measurements at the Future Circular Collider (FCC-ee), with multi-ab$^{-1}$ integrated luminosities yielding 10$^{12}$ and 10$^{8}$ jets from Z and W bosons decays as well as 10$^5$ gluon jets from Higgs boson decays. The main topics discussed are: (i) parton radiation and parton-to-hadron fragmentation functions (splitting functions at NNLO, small-$z$ NNLL resummations, global FF fits including Monte Carlo (MC) and neural-network analyses of the latest Belle/BaBar high-precision data, parton shower MC generators), (ii) jet properties (quark-gluon discrimination, $e^+e^-$ event shapes and multi-jet rates at NNLO+N$^{n}$LL, jet broadening and angularities, jet substructure at small-radius, jet charge determination, $e^+e^-$ jet reconstruction algorithms), (iii) heavy-quark jets (dead cone effect, charm-bottom separation, gluon-to-$b\bar{b}$ splitting), and (iv) non-perturbative QCD phenomena (colour reconnection, baryon and strangeness production, Bose-Einstein and Fermi-Dirac final-state correlations, colour string dynamics: spin effects, helix hadronization)., Comment: 181 pages, 120 figures. Proceedings "Parton Radiation and Fragmentation from LHC to FCC-ee" Workshop (CERN, Nov. 2016), David d'Enterria, Peter Z. Skands (eds.)

Published
2017

11. Breathing in Low Mass Galaxies: A Study of Episodic Star Formation

Author

Stinson, G. S., Dalcanton, J. J., Quinn, T., Kaufmann, T., and Wadsley, J.

Subjects
Astrophysics
Abstract

We simulate the collapse of isolated dwarf galaxies using SPH + N-Body simulations including a physically motivated description of the effects of supernova feedback. As the gas collapses and stars form, the supernova feedback disrupts enough gas to temporarily quench star formation. The gas flows outward into a hot halo, where it cools until star formation can continue once more and the cycle repeats. The star formation histories of isolated Local Group dwarf galaxies exhibit similar episodic bursts of star formation. We examine the mass dependence of the stellar velocity dispersions and find that they are no less than half the velocity of the halos measured at the virial radius., Comment: 5 pages, 3 figures, accepted ApJ. Full resolution figures and movies available at http://hpcc.astro.washington.edu/feedback

Published
2007
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14. Exploring psychiatric conditions through machine learning: a comprehensive analysis of large-scale data from the ECNP data network

Author

Khuntia, A., primary, Buciuman, M., additional, Fanning, J., additional, Herrera, A., additional, Wiegand, A., additional, Hahn, L., additional, From, T., additional, Goffi, F., additional, Kaufmann, T., additional, Laurikainen, L., additional, Maggioni, E., additional, Martinez, I., additional, Stolicyn, A., additional, Schwarz, E., additional, Squarcina, L., additional, Andreassen, O., additional, Bellani, M., additional, Brambilla, P., additional, Hietala, J., additional, Lawrie, S., additional, Soriano, S., additional, Whalley, H., additional, and Koutsouleris, N., additional

Published
2023
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16. Abundant pleiotropy across neuroimaging modalities identified through a multivariate genome-wide association study

Author

Tissink, E.P., primary, Shadrin, A.A., additional, van der Meer, D., additional, Parker, N., additional, Hindley, G., additional, Roelfs, D., additional, Frei, O., additional, Fan, C.C., additional, Nagel, M., additional, Nærland, T., additional, Budisteanu, M., additional, Djurovic, S., additional, Westlye, L. T., additional, van den Heuvel, M.P., additional, Posthuma, D., additional, Kaufmann, T., additional, Dale, A.M., additional, and Andreassen, O.A., additional

Published
2022
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20. Mind the gap: Performance metric evaluation in brain-age prediction

Author

de Lange, A-MG, Anaturk, M, Rokicki, J, Han, LKM, Franke, K, Alnaes, D, Ebmeier, KP, Draganski, B, Kaufmann, T, Westlye, LT, Hahn, T, Cole, JH, de Lange, A-MG, Anaturk, M, Rokicki, J, Han, LKM, Franke, K, Alnaes, D, Ebmeier, KP, Draganski, B, Kaufmann, T, Westlye, LT, Hahn, T, and Cole, JH

Abstract

Estimating age based on neuroimaging-derived data has become a popular approach to developing markers for brain integrity and health. While a variety of machine-learning algorithms can provide accurate predictions of age based on brain characteristics, there is significant variation in model accuracy reported across studies. We predicted age in two population-based datasets, and assessed the effects of age range, sample size and age-bias correction on the model performance metrics Pearson's correlation coefficient (r), the coefficient of determination (R2 ), Root Mean Squared Error (RMSE) and Mean Absolute Error (MAE). The results showed that these metrics vary considerably depending on cohort age range; r and R2 values are lower when measured in samples with a narrower age range. RMSE and MAE are also lower in samples with a narrower age range due to smaller errors/brain age delta values when predictions are closer to the mean age of the group. Across subsets with different age ranges, performance metrics improve with increasing sample size. Performance metrics further vary depending on prediction variance as well as mean age difference between training and test sets, and age-bias corrected metrics indicate high accuracy-also for models showing poor initial performance. In conclusion, performance metrics used for evaluating age prediction models depend on cohort and study-specific data characteristics, and cannot be directly compared across different studies. Since age-bias corrected metrics generally indicate high accuracy, even for poorly performing models, inspection of uncorrected model results provides important information about underlying model attributes such as prediction variance.

Published
2022

21. Deep neural networks learn general and clinically relevant representations of the ageing brain

Author

Leonardsen, E.H., Peng, H., Kaufmann, T., Agartz, I., Andreassen, O.A., Celius, E.G., Espeseth, T., Harbo, H.F., Høgestøl, E.A., Lange, Ann-Marie de, Marquand, A.F., Vidal-Piñeiro, D., Roe, J.M., Selbæk, G., Sørensen, Ø., Smith, S.M., Westlye, L.T., Wolfers, T., Wang, Y., Leonardsen, E.H., Peng, H., Kaufmann, T., Agartz, I., Andreassen, O.A., Celius, E.G., Espeseth, T., Harbo, H.F., Høgestøl, E.A., Lange, Ann-Marie de, Marquand, A.F., Vidal-Piñeiro, D., Roe, J.M., Selbæk, G., Sørensen, Ø., Smith, S.M., Westlye, L.T., Wolfers, T., and Wang, Y.

Abstract

Contains fulltext : 251344.pdf (Publisher’s version ) (Open Access), The discrepancy between chronological age and the apparent age of the brain based on neuroimaging data - the brain age delta - has emerged as a reliable marker of brain health. With an increasing wealth of data, approaches to tackle heterogeneity in data acquisition are vital. To this end, we compiled raw structural magnetic resonance images into one of the largest and most diverse datasets assembled (n=53542), and trained convolutional neural networks (CNNs) to predict age. We achieved state-of-the-art performance on unseen data from unknown scanners (n=2553), and showed that higher brain age delta is associated with diabetes, alcohol intake and smoking. Using transfer learning, the intermediate representations learned by our model complemented and partly outperformed brain age delta in predicting common brain disorders. Our work shows we can achieve generalizable and biologically plausible brain age predictions using CNNs trained on heterogeneous datasets, and transfer them to clinical use cases.

Published
2022

22. Hydrogen in stationary applications: Coupling the electricity, gas and mobility sectors (Digi-HyPro)

Author

Puszkiel, J., Covarrubias Guraneros, M., Fleming, L., Kaufmann, T., Krause, P., Warfsmann, J., Wienken, E., Wildner, L., Schulze, M., Kutzner, H., Gökhan, G., Bellosta von Colbe, J., Hamedi, H., Brinkmann, T., Taube, T., Klassen, T., and Jepsen, J.

Subjects
Metal Hydrides, 620 Ingenieurwissenschaften, Green Hydrogen Production, Gas-Grid-Based Hydrogen Storage, 500 Naturwissenschaften, dtec.bw, Sector Coupling, Hydrogen Purification
Abstract

Global warming and continuous fossil fuel depletion are worldwide phenomena that pose challenges such as the reduction of greenhouse gas emissions and the further exploitation of renewable energy sources. Nevertheless, the transition from fossil fuels to a renewable-energy-based economy demands more innovative solutions and developments such as the Power-to-Gas-to-Power (PtoGtoP) idea. Hydrogen is considered one of the clean energy carriers in the concept of PtoGtoP. However, this strategy still suffers from several challenges, like intermittent inflows of energy, high costs, and rather low energy efficiency due to the losses during conversion and storage. The goal of the Digi-HyPro (Digitalized Hydrogen Process Chain for the Energy Transition) project is to develop an efficient and modular PtoGtoP system. The concept of this modular system, called Smart-Energy-Transform-Unit (SET-Unit), aims to design a decentralized and scalable system for clean energy demands spreading across different locations. The SET-Unit serves to optimize the connections between renewable sources and the current power and gas grid demand. Applying this concept, hydrogen generated by an electrolyzer can be stored compactly and safely in a metal hydride storage system or fed into the natural gas grid. On-demand, hydrogen can also be taken from the intermediate storage facility or the gas grid by applying gas separation techniques and can be delivered (i) to an integrated fuel cell to produce power or (ii) to a metal hydride compressor to provide hydrogen for the mobility sector (trucks, cars, trains, etc.). Component and system level simulations are performed to design, develop and optimize the individual and overall integrated system. These digital models draw critical data from experiments and are validated using prototype setups. For this purpose, experimental setups on a laboratory scale of 10 kWel, and an intermediate scale of 50 kWel are part of the Digi-HyPro project’s plan. This multidisciplinary investigation involves the optimization of the digital SET-Unit system with experimental demonstrations in kWel ranges. Final scalability studies in the industrially relevant MWel range can pave the way to an efficiently networked green energy system.

Published
2022
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27. Brain based BMIgap as a new tool to correlate obesity and neural alterations – a multicohort study

Author

Khuntia, A., Paul, R., Andreassen, O.A., Degenhard, F., Eils, R., Erdmann, J., Herrmann, C., Hofmann-Apitius, M., Kaufmann, T., Kodamullil, A.T., Mucha, S., Nöthen, M.M., Pedersen, M.L., Quintero, A., Schunkert, H., Sharma, A., Tost, H., Westlye, L.T., Zhang, Y., Kambeitz, J., Salokangas, R.K.R., Hietala, J., Bertolino, A., Brambilla, P., Upthegrove, R., Wood, S.J., Lencer, R., Borgwardt, S., Meyer-Lindenberg, A., Meisenzahl, E., Falkai, P., Schwarz, E., and Koutsouleris, N.

Published
2022
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38. Genetic control of variability in subcortical and intracranial volumes

Author

Córdova-Palomera, A., Meer, D. van der, Kaufmann, T., Bettella, F., Wang, Y., Alnæs, D., Doan, N.T., Agartz, I., Bertolino, A., Buitelaar, J.K., Coynel, D., Djurovic, S., Dørum, E.S., Espeseth, T., Fazio, L., Franke, B., Frei, O., Håberg, A., Hellard, S. Le, Jönsson, E.G., Kolskår, K.K., Lund, M.J., Moberget, T., Nordvik, J.E., Nyberg, L., Papassotiropoulos, A., Pergola, G., Quervain, D. de, Rampino, A., Richard, G., Rokicki, J., Sanders, A.M., Schwarz, E., Smeland, O.B., Steen, V.M., Starrfelt, J., Sønderby, I.E., Ulrichsen, K.M., Andreassen, O.A., Westlye, L.T., Córdova-Palomera, A., Meer, D. van der, Kaufmann, T., Bettella, F., Wang, Y., Alnæs, D., Doan, N.T., Agartz, I., Bertolino, A., Buitelaar, J.K., Coynel, D., Djurovic, S., Dørum, E.S., Espeseth, T., Fazio, L., Franke, B., Frei, O., Håberg, A., Hellard, S. Le, Jönsson, E.G., Kolskår, K.K., Lund, M.J., Moberget, T., Nordvik, J.E., Nyberg, L., Papassotiropoulos, A., Pergola, G., Quervain, D. de, Rampino, A., Richard, G., Rokicki, J., Sanders, A.M., Schwarz, E., Smeland, O.B., Steen, V.M., Starrfelt, J., Sønderby, I.E., Ulrichsen, K.M., Andreassen, O.A., and Westlye, L.T.

Abstract

Item does not contain fulltext, Sensitivity to external demands is essential for adaptation to dynamic environments, but comes at the cost of increased risk of adverse outcomes when facing poor environmental conditions. Here, we apply a novel methodology to perform genome-wide association analysis of mean and variance in ten key brain features (accumbens, amygdala, caudate, hippocampus, pallidum, putamen, thalamus, intracranial volume, cortical surface area, and cortical thickness), integrating genetic and neuroanatomical data from a large lifespan sample (n = 25,575 individuals; 8-89 years, mean age 51.9 years). We identify genetic loci associated with phenotypic variability in thalamus volume and cortical thickness. The variance-controlling loci involved genes with a documented role in brain and mental health and were not associated with the mean anatomical volumes. This proof-of-principle of the hypothesis of a genetic regulation of brain volume variability contributes to establishing the genetic basis of phenotypic variance (i.e., heritability), allows identifying different degrees of brain robustness across individuals, and opens new research avenues in the search for mechanisms controlling brain and mental health.

Published
2021

39. 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

Author

Sønderby, I.E., van der Meer, D., Moreau, C., Kaufmann, T., Walters, G.B., Ellegaard, M., Abdellaoui, A., Ames, D., Amunts, K., Andersson, M., Armstrong, N.J., Bernard, M., Blackburn, N.B., Blangero, J., Boomsma, D.I., Brodaty, H., Brouwer, R.M., Bülow, R., Bøen, R., Cahn, W., Calhoun, V.D., Caspers, S., Ching, C.R.K., Cichon, S., Ciufolini, S., Crespo-Facorro, B., Curran, J.E., Dale, A.M., Dalvie, S., Dazzan, P., de Geus, E.J.C., de Zubicaray, G.I., de Zwarte, S.M.C., Desrivières, S., Doherty, J.L., Donohoe, G., Draganski, B., Ehrlich, S., Eising, E., Espeseth, T., Fejgin, K., Fisher, S.E., Fladby, T., Frei, O., Frouin, V., Fukunaga, M., Gareau, T., Ge, T., Glahn, D.C., Grabe, H.J., Groenewold, N.A., Gústafsson, Ó., Haavik, J., Håberg, A.K., Hall, J., Hashimoto, R., Hehir-Kwa, J.Y., Hibar, D.P., Hillegers, M.H.J., Hoffmann, P., Holleran, L., Holmes, A.J., Homuth, G., Hottenga, J-J, Hulshoff Pol, H.E., Ikeda, M., Jahanshad, N., Jockwitz, C., Johansson, S., Jönsson, E.G., Jørgensen, N.R., Kikuchi, M., Knowles, E.E.M., Kumar, K., Le Hellard, S., Leu, C., Linden, D.E.J., Liu, J., Lundervold, A., Lundervold, A.J., Maillard, A.M., Martin, N.G., Martin-Brevet, S., Mather, K.A., Mathias, S.R., McMahon, K.L., McRae, A.F., Medland, S.E., Meyer-Lindenberg, A., Moberget, T., Modenato, C., Sánchez, J.M., Morris, D.W., Mühleisen, T.W., Murray, R.M., Nielsen, J., Nordvik, J.E., Nyberg, L., Loohuis, L.M.O., Ophoff, R.A., Owen, M.J., Paus, T., Pausova, Z., Peralta, J.M., Pike, G.B., Prieto, C., Quinlan, E.B., Reinbold, C.S., Marques, T.R., Rucker, J.J.H., Sachdev, P.S., Sando, S.B., Schofield, P.R., Schork, A.J., Schumann, G., Shin, J., Shumskaya, E., Silva, A.I., Sisodiya, S.M., Steen, V.M., Stein, D.J., Strike, L.T., Suzuki, I.K., Tamnes, C.K., Teumer, A., Thalamuthu, A., Tordesillas-Gutierrez, D., Uhlmann, A., Ulfarsson, M.O., van ‘t Ent, D., van den Bree, M.B.M., Vanderhaeghen, P., Vassos, E., Wen, W., Wittfeld, K., Wright, M.J., Agartz, I., Djurovic, S., Westlye, L.T., Stefánsson, H., Stefánsson, K., Jacquemont, S., Thompson, P.M., Andreassen, O.A., Sønderby, I.E., van der Meer, D., Moreau, C., Kaufmann, T., Walters, G.B., Ellegaard, M., Abdellaoui, A., Ames, D., Amunts, K., Andersson, M., Armstrong, N.J., Bernard, M., Blackburn, N.B., Blangero, J., Boomsma, D.I., Brodaty, H., Brouwer, R.M., Bülow, R., Bøen, R., Cahn, W., Calhoun, V.D., Caspers, S., Ching, C.R.K., Cichon, S., Ciufolini, S., Crespo-Facorro, B., Curran, J.E., Dale, A.M., Dalvie, S., Dazzan, P., de Geus, E.J.C., de Zubicaray, G.I., de Zwarte, S.M.C., Desrivières, S., Doherty, J.L., Donohoe, G., Draganski, B., Ehrlich, S., Eising, E., Espeseth, T., Fejgin, K., Fisher, S.E., Fladby, T., Frei, O., Frouin, V., Fukunaga, M., Gareau, T., Ge, T., Glahn, D.C., Grabe, H.J., Groenewold, N.A., Gústafsson, Ó., Haavik, J., Håberg, A.K., Hall, J., Hashimoto, R., Hehir-Kwa, J.Y., Hibar, D.P., Hillegers, M.H.J., Hoffmann, P., Holleran, L., Holmes, A.J., Homuth, G., Hottenga, J-J, Hulshoff Pol, H.E., Ikeda, M., Jahanshad, N., Jockwitz, C., Johansson, S., Jönsson, E.G., Jørgensen, N.R., Kikuchi, M., Knowles, E.E.M., Kumar, K., Le Hellard, S., Leu, C., Linden, D.E.J., Liu, J., Lundervold, A., Lundervold, A.J., Maillard, A.M., Martin, N.G., Martin-Brevet, S., Mather, K.A., Mathias, S.R., McMahon, K.L., McRae, A.F., Medland, S.E., Meyer-Lindenberg, A., Moberget, T., Modenato, C., Sánchez, J.M., Morris, D.W., Mühleisen, T.W., Murray, R.M., Nielsen, J., Nordvik, J.E., Nyberg, L., Loohuis, L.M.O., Ophoff, R.A., Owen, M.J., Paus, T., Pausova, Z., Peralta, J.M., Pike, G.B., Prieto, C., Quinlan, E.B., Reinbold, C.S., Marques, T.R., Rucker, J.J.H., Sachdev, P.S., Sando, S.B., Schofield, P.R., Schork, A.J., Schumann, G., Shin, J., Shumskaya, E., Silva, A.I., Sisodiya, S.M., Steen, V.M., Stein, D.J., Strike, L.T., Suzuki, I.K., Tamnes, C.K., Teumer, A., Thalamuthu, A., Tordesillas-Gutierrez, D., Uhlmann, A., Ulfarsson, M.O., van ‘t Ent, D., van den Bree, M.B.M., Vanderhaeghen, P., Vassos, E., Wen, W., Wittfeld, K., Wright, M.J., Agartz, I., Djurovic, S., Westlye, L.T., Stefánsson, H., Stefánsson, K., Jacquemont, S., Thompson, P.M., and Andreassen, O.A.

Abstract

Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers—the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.

Published
2021

40. Current use of inotropes in circulatory shock

Author

Scheeren, T.W.L. (Thomas W. L.), Bakker, J. (Jan), Kaufmann, T. (Thomas), Annane, D. (Djillali), Asfar, P. (Pierre), Boerma, E.C. (Christiaan), Cecconi, M. (Maurizio), Chew, M. (Michelle), Cholley, B. (Bernard), Cronhjort, M. (Maria), Backer, D. (Daniel) de, Dubin, A. (Arnaldo), Dünser, M.W. (Martin), Duranteau, J. (Jacques), Gordon, A.C. (Anthony C.), Hajjar, L.A. (Ludhmila A.), Hamzaoui, O. (Olfa), Hernandez, G. (Glenn), Kanoore Edul, V.S. (Vanina ), Koster, G. (Geert), Landoni, G. (Giovanni), Leone, M. (Marc), Levy, B. (Bruno), Martin, C. (Claude), Mebazaa, A. (Alexandre), Monnet, X. (Xavier), Morelli, A. (Andrea), Payen, D. (Didier), Pearse, R.M. (Rupert ), Pinsky, M.R. (Michael), Radermacher, P. (Peter), Reuter, D.A. (Daniel A.), Sakr, Y. (Yasser), Sander, M. (Michael), Saugel, B. (Bernd), Singer, M. (Mervyn), Squara, P. (Pierre), Vieillard-Baron, A. (Antoine), Vignon, P. (Philippe), Vincent, J.-L. (Jean-Louis), van der Horst, I.C.C. (Iwan C. C.), Vistisen, S.T. (Simon T.), Teboul, J.L. (Jean Louis), Scheeren, T.W.L. (Thomas W. L.), Bakker, J. (Jan), Kaufmann, T. (Thomas), Annane, D. (Djillali), Asfar, P. (Pierre), Boerma, E.C. (Christiaan), Cecconi, M. (Maurizio), Chew, M. (Michelle), Cholley, B. (Bernard), Cronhjort, M. (Maria), Backer, D. (Daniel) de, Dubin, A. (Arnaldo), Dünser, M.W. (Martin), Duranteau, J. (Jacques), Gordon, A.C. (Anthony C.), Hajjar, L.A. (Ludhmila A.), Hamzaoui, O. (Olfa), Hernandez, G. (Glenn), Kanoore Edul, V.S. (Vanina ), Koster, G. (Geert), Landoni, G. (Giovanni), Leone, M. (Marc), Levy, B. (Bruno), Martin, C. (Claude), Mebazaa, A. (Alexandre), Monnet, X. (Xavier), Morelli, A. (Andrea), Payen, D. (Didier), Pearse, R.M. (Rupert ), Pinsky, M.R. (Michael), Radermacher, P. (Peter), Reuter, D.A. (Daniel A.), Sakr, Y. (Yasser), Sander, M. (Michael), Saugel, B. (Bernd), Singer, M. (Mervyn), Squara, P. (Pierre), Vieillard-Baron, A. (Antoine), Vignon, P. (Philippe), Vincent, J.-L. (Jean-Louis), van der Horst, I.C.C. (Iwan C. C.), Vistisen, S.T. (Simon T.), and Teboul, J.L. (Jean Louis)

Abstract

Background: Treatment decisions on critically ill patients with circulatory shock lack consensus. In an international survey, we aimed to evaluate the indications, current practice, and therapeutic goals of inotrope therapy in the treatment of patients with circulatory shock. Methods: From November 2016 to April 2017, an anonymous web-based survey on the use of cardiovascular drugs was accessible to members of the European Society of Intensive Care Medicine (ESICM). A total of 14 questions focused on the profile of respondents, the triggering factors, first-line choice, dosing, timing, targets, additional treatment strategy, and suggested effect of inotropes. In addition, a group of 42 international ESICM experts was asked to formulate recommendations for the use of inotropes based on 11 questions. Results: A total of 839 physicians from 82 countries responded. Dobutamine was the first-line inotrope in critically ill patients with acute heart failure for 84% of respondents. Two-thirds of respondents (66%) stated to use inotropes when there were persistent clinical signs of hypoperfusion or persistent hyperlactatemia despite a supposed adequate use of fluids and vasopressors, with (44%) or without (22%) the context of low left ventricular ejection fraction. Nearly half (44%) of respondents stated an adequate cardiac output as target for inotropic treatment. The experts agreed on 11 strong recommendations, all of which were based on excellent (> 90%) or good (81–90%) agreement. Recommendations include the indications for inotropes (septic and cardiogenic shock), the choice of drugs (dobutamine, not dopamine), the triggers (low cardiac output and clinical signs of hypoperfusion) and targets (adequate cardiac output) and stopping criteria (adverse effects and clinical improvement). Conclusion: Inotrope use in critically ill patients is quite heterogeneous as self-reported by individual caregivers. Eleven strong recommendations on the indications, choice, triggers and ta

Published
2021
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41. 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

Author

Sonderby, IE, van der Meer, D, Moreau, C, Kaufmann, T, Walters, GB, Ellegaard, M, Abdellaoui, A, Ames, D, Amunts, K, Andersson, M, Armstrong, NJ, Bernard, M, Blackburn, NB, Blangero, J, Boomsma, DI, Brodaty, H, Brouwer, RM, Buelow, R, Boen, R, Cahn, W, Calhoun, VD, Caspers, S, Ching, CRK, Cichon, S, Ciufolini, S, Crespo-Facorro, B, Curran, JE, Dale, AM, Dalvie, S, Dazzan, P, de Geus, EJC, de Zubicaray, GI, de Zwarte, SMC, Desrivieres, S, Doherty, JL, Donohoe, G, Draganski, B, Ehrlich, S, Eising, E, Espeseth, T, Fejgin, K, Fisher, SE, Fladby, T, Frei, O, Frouin, V, Fukunaga, M, Gareau, T, Ge, T, Glahn, DC, Grabe, HJ, Groenewold, NA, Gustafsson, O, Haavik, J, Haberg, AK, Hall, J, Hashimoto, R, Hehir-Kwa, JY, Hibar, DP, Hillegers, MHJ, Hoffmann, P, Holleran, L, Holmes, AJ, Homuth, G, Hottenga, J-J, Hulshoff Pol, HE, Ikeda, M, Jahanshad, N, Jockwitz, C, Johansson, S, Joensson, EG, Jorgensen, NR, Kikuchi, M, Knowles, EEM, Kumar, K, Le Hellard, S, Leu, C, Linden, DEJ, Liu, J, Lundervold, A, Lundervold, AJ, Maillard, AM, Martin, NG, Martin-Brevet, S, Mather, KA, Mathias, SR, McMahon, KL, McRae, AF, Medland, SE, Meyer-Lindenberg, A, Moberget, T, Modenato, C, Sanchez, JM, Morris, DW, Muehleisen, TW, Murray, RM, Nielsen, J, Nordvik, JE, Nyberg, L, Loohuis, LMO, Ophoff, RA, Owen, MJ, Paus, T, Pausova, Z, Peralta, JM, Pike, GB, Prieto, C, Quinlan, EB, Reinbold, CS, Marques, TR, Rucker, JJH, Sachdev, PS, Sando, SB, Schofield, PR, Schork, AJ, Schumann, G, Shin, J, Shumskaya, E, Silva, AI, Sisodiya, SM, Steen, VM, Stein, DJ, Strike, LT, Suzuki, IK, Tamnes, CK, Teumer, A, Thalamuthu, A, Tordesillas-Gutierrez, D, Uhlmann, A, Ulfarsson, MO, van 't Ent, D, van den Bree, MBM, Vanderhaeghen, P, Vassos, E, Wen, W, Wittfeld, K, Wright, MJ, Agartz, I, Djurovic, S, Westlye, LT, Stefansson, H, Stefansson, K, Jacquemont, S, Thompson, PM, Andreassen, OA, Sonderby, IE, van der Meer, D, Moreau, C, Kaufmann, T, Walters, GB, Ellegaard, M, Abdellaoui, A, Ames, D, Amunts, K, Andersson, M, Armstrong, NJ, Bernard, M, Blackburn, NB, Blangero, J, Boomsma, DI, Brodaty, H, Brouwer, RM, Buelow, R, Boen, R, Cahn, W, Calhoun, VD, Caspers, S, Ching, CRK, Cichon, S, Ciufolini, S, Crespo-Facorro, B, Curran, JE, Dale, AM, Dalvie, S, Dazzan, P, de Geus, EJC, de Zubicaray, GI, de Zwarte, SMC, Desrivieres, S, Doherty, JL, Donohoe, G, Draganski, B, Ehrlich, S, Eising, E, Espeseth, T, Fejgin, K, Fisher, SE, Fladby, T, Frei, O, Frouin, V, Fukunaga, M, Gareau, T, Ge, T, Glahn, DC, Grabe, HJ, Groenewold, NA, Gustafsson, O, Haavik, J, Haberg, AK, Hall, J, Hashimoto, R, Hehir-Kwa, JY, Hibar, DP, Hillegers, MHJ, Hoffmann, P, Holleran, L, Holmes, AJ, Homuth, G, Hottenga, J-J, Hulshoff Pol, HE, Ikeda, M, Jahanshad, N, Jockwitz, C, Johansson, S, Joensson, EG, Jorgensen, NR, Kikuchi, M, Knowles, EEM, Kumar, K, Le Hellard, S, Leu, C, Linden, DEJ, Liu, J, Lundervold, A, Lundervold, AJ, Maillard, AM, Martin, NG, Martin-Brevet, S, Mather, KA, Mathias, SR, McMahon, KL, McRae, AF, Medland, SE, Meyer-Lindenberg, A, Moberget, T, Modenato, C, Sanchez, JM, Morris, DW, Muehleisen, TW, Murray, RM, Nielsen, J, Nordvik, JE, Nyberg, L, Loohuis, LMO, Ophoff, RA, Owen, MJ, Paus, T, Pausova, Z, Peralta, JM, Pike, GB, Prieto, C, Quinlan, EB, Reinbold, CS, Marques, TR, Rucker, JJH, Sachdev, PS, Sando, SB, Schofield, PR, Schork, AJ, Schumann, G, Shin, J, Shumskaya, E, Silva, AI, Sisodiya, SM, Steen, VM, Stein, DJ, Strike, LT, Suzuki, IK, Tamnes, CK, Teumer, A, Thalamuthu, A, Tordesillas-Gutierrez, D, Uhlmann, A, Ulfarsson, MO, van 't Ent, D, van den Bree, MBM, Vanderhaeghen, P, Vassos, E, Wen, W, Wittfeld, K, Wright, MJ, Agartz, I, Djurovic, S, Westlye, LT, Stefansson, H, Stefansson, K, Jacquemont, S, Thompson, PM, and Andreassen, OA

Abstract

Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers-the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.

Published
2021

42. Giorgione

Author

DaCosta Kaufmann, T, Anderson, J, DaCosta Kaufmann, T, and Anderson, J

Abstract

Giorgione was a Venetian painter who was born at Castelfranco, some fifty kilometers from Venice, in 1473/74. His life ended tragically at the age of 36 on 17 September 1510, when he died of the plague. In contemporary documents his name is given in Venetian dialect as Zorzi da Castelfranco (George from Castelfranco), or as Zorzon (Big George), in recognition of the celebrity he enjoyed during his lifetime. Baldassare Castiglione, in his “Book of the Courtier,” in 1516, recognized Giorgione as one of the greatest artists of his age, along with Leonardo da Vinci, Mantegna, Raphael, and Michelangelo. In 1548 the Venetian theorist Paolo Pino defined Giorgione as the painter of poetic brevity, as the inventor of new Venetian mode of creation. In 1550, in his Lives of the Artists, Giorgio Vasari endorsed this assessment and placed Giorgione as the artist who introduced the modern style of the High Renaissance to Venice.

Published
2021

43. Current use of inotropes in circulatory shock

Author

Scheeren, TWL, Bakker, Hanneke, Kaufmann, T, Annane, D, Asfar, P, Boerma, EC, Cecconi, M, Chew, MS, Cholley, B, Cronhjort, M, De Backer, D, Dubin, A, Dunser, MW, Duranteau, J, Gordon, AC, Hajjar, LA, Hamzaoui, O, Hernandez, G, Edul, VK, Koster, G, Landoni, G, Leone, M, Levy, B, Martin, C, Mebazaa, A, Monnet, X, Morelli, A, Payen, D, Pearse, RM, Pinsky, MR, Radermacher, P, Reuter, DA, Sakr, Y, Sander, M, Saugel, B, Singer, M, Squara, P, Vieillard-Baron, A, Vignon, P, Vincent, JL, van der Horst, ICC, Vistisen, ST, Teboul, JL, Scheeren, TWL, Bakker, Hanneke, Kaufmann, T, Annane, D, Asfar, P, Boerma, EC, Cecconi, M, Chew, MS, Cholley, B, Cronhjort, M, De Backer, D, Dubin, A, Dunser, MW, Duranteau, J, Gordon, AC, Hajjar, LA, Hamzaoui, O, Hernandez, G, Edul, VK, Koster, G, Landoni, G, Leone, M, Levy, B, Martin, C, Mebazaa, A, Monnet, X, Morelli, A, Payen, D, Pearse, RM, Pinsky, MR, Radermacher, P, Reuter, DA, Sakr, Y, Sander, M, Saugel, B, Singer, M, Squara, P, Vieillard-Baron, A, Vignon, P, Vincent, JL, van der Horst, ICC, Vistisen, ST, and Teboul, JL

Abstract

Background: Treatment decisions on critically ill patients with circulatory shock lack consensus. In an international survey, we aimed to evaluate the indications, current practice, and therapeutic goals of inotrope therapy in the treatment of patients with circulatory shock. Methods: From November 2016 to April 2017, an anonymous web-based survey on the use of cardiovascular drugs was accessible to members of the European Society of Intensive Care Medicine (ESICM). A total of 14 questions focused on the profile of respondents, the triggering factors, first-line choice, dosing, timing, targets, additional treatment strategy, and suggested effect of inotropes. In addition, a group of 42 international ESICM experts was asked to formulate recommendations for the use of inotropes based on 11 questions. Results: A total of 839 physicians from 82 countries responded. Dobutamine was the first-line inotrope in critically ill patients with acute heart failure for 84% of respondents. Two-thirds of respondents (66%) stated to use inotropes when there were persistent clinical signs of hypoperfusion or persistent hyperlactatemia despite a supposed adequate use of fluids and vasopressors, with (44%) or without (22%) the context of low left ventricular ejection fraction. Nearly half (44%) of respondents stated an adequate cardiac output as target for inotropic treatment. The experts agreed on 11 strong recommendations, all of which were based on excellent (> 90%) or good (81–90%) agreement. Recommendations include the indications for inotropes (septic and cardiogenic shock), the choice of drugs (dobutamine, not dopamine), the triggers (low cardiac output and clinical signs of hypoperfusion) and targets (adequate cardiac output) and stopping criteria (adverse effects and clinical improvement). Conclusion: Inotrope use in critically ill patients is quite heterogeneous as self-reported by individual caregivers. Eleven strong recommendations on the indications, choice, triggers

Published
2021

49. Should the ultrasound probe replace your stethoscope?

Author

Cox, E.G.M., Koster, G., Baron, A., Kaufmann, T., Eck, R.J., Veenstra, T.C., Hiemstra, B., Wong, A., Kwee, T.C., Tulleken, J.E., Keus, F., Wiersema, R., van Der Horst, W.C.C., Dieperink, W., Bleijendaal, R., Cawale, Y.F., Clement, R.P., Dijkhuizen, D., Haker, A., Hilbink, C.D.H., Klasen, M., Klaver, M., Schokking, L.J., Sikkens, V.W., Vos, M., Woerlee, J., Guided Treatment in Optimal Selected Cancer Patients (GUTS), ​Basic and Translational Research and Imaging Methodology Development in Groningen (BRIDGE), Lifelong Learning, Education & Assessment Research Network (LEARN), Critical care, Anesthesiology, Peri-operative and Emergency medicine (CAPE), RS: Carim - V04 Surgical intervention, Intensive Care, MUMC+: MA Medische Staf IC (9), MUMC+: MA Intensive Care (3), and Critical Care

Subjects
Male, Stethoscope, Clinical examination, SONOGRAPHY, 030204 cardiovascular system & hematology, Critical Care and Intensive Care Medicine, Diagnostic accuracy, law.invention, Cohort Studies, 0302 clinical medicine, law, Pulmonary edema, CHEST RADIOGRAPHY, Prospective Studies, 030212 general & internal medicine, Lung, lungs, APACHE, Ultrasonography, Lung ultrasound, medicine.diagnostic_test, ultrasound, lcsh:Medical emergencies. Critical care. Intensive care. First aid, health, Middle Aged, medicine.anatomical_structure, HEART-FAILURE, Female, Radiology, medicine.symptom, medicine.medical_specialty, Critical Illness, Point-of-Care Systems, Physical examination, Rhonchi, Statistics, Nonparametric, 03 medical and health sciences, Intensive care, medicine, Humans, diagnostische nauwkeurigheid, Prospective study, longen, Physical Examination, Aged, Chi-Square Distribution, business.industry, Research, Stethoscopes, klinisch onderzoek, lcsh:RC86-88.9, Auscultation, echografie, medicine.disease, Critical care, kritieke zorg, Heart failure, business
Abstract

Background In critically ill patients, auscultation might be challenging as dorsal lung fields are difficult to reach in supine-positioned patients, and the environment is often noisy. In recent years, clinicians have started to consider lung ultrasound as a useful diagnostic tool for a variety of pulmonary pathologies, including pulmonary edema. The aim of this study was to compare lung ultrasound and pulmonary auscultation for detecting pulmonary edema in critically ill patients. Methods This study was a planned sub-study of the Simple Intensive Care Studies-I, a single-center, prospective observational study. All acutely admitted patients who were 18 years and older with an expected ICU stay of at least 24 h were eligible for inclusion. All patients underwent clinical examination combined with lung ultrasound, conducted by researchers not involved in patient care. Clinical examination included auscultation of the bilateral regions for crepitations and rhonchi. Lung ultrasound was conducted according to the Bedside Lung Ultrasound in Emergency protocol. Pulmonary edema was defined as three or more B lines in at least two (bilateral) scan sites. An agreement was described by using the Cohen κ coefficient, sensitivity, specificity, negative predictive value, positive predictive value, and overall accuracy. Subgroup analysis were performed in patients who were not mechanically ventilated. Results The Simple Intensive Care Studies-I cohort included 1075 patients, of whom 926 (86%) were eligible for inclusion in this analysis. Three hundred seven of the 926 patients (33%) fulfilled the criteria for pulmonary edema on lung ultrasound. In 156 (51%) of these patients, auscultation was normal. A total of 302 patients (32%) had audible crepitations or rhonchi upon auscultation. From 130 patients with crepitations, 86 patients (66%) had pulmonary edema on lung ultrasound, and from 209 patients with rhonchi, 96 patients (46%) had pulmonary edema on lung ultrasound. The agreement between auscultation findings and lung ultrasound diagnosis was poor (κ statistic 0.25). Subgroup analysis showed that the diagnostic accuracy of auscultation was better in non-ventilated than in ventilated patients. Conclusion The agreement between lung ultrasound and auscultation is poor. Trial registration NCT02912624. Registered on September 23, 2016.

Published
2020

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