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1. Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta

Author

Celli, Luca, Garrelfs, Mark R., Sakkers, Ralph J. B., Elting, Mariet W., Celli, Mauro, Bökenkamp, Arend, Smits, Cas, Goderie, Thadé, Smit, Jan Maerten, Schwarte, Lothar A., Schober, Patrick R., Lubbers, Wouter D., Visser, Marieke C., Kievit, Arthur J., van Royen, Barend J., Gilijamse, Marjolijn, Schreuder, Willem H., Rustemeyer, Thomas, Pramana, Angela, Hendrickx, Jan-Jaap, Dahele, Max R., Saeed, Peerooz, Moll, Annette C., Curro–Tafili, Katie R., Ghyczy, Ebba A. E., Dickhoff, Chris, de Leeuw, Robert A., Bonjer, Jaap H., Nieuwenhuijzen, Jakko A., Konings, Thelma C., Engelsman, Anton F., Eeckhout, Augustinus M., van den Aardweg, Joost G., Thoral, Patrick J., Noske, David P., Dubois, Leander, Teunissen, Berend P., Semler, Oliver, Wekre, Lena Lande, Maasalu, Katre, Märtson, Aare, Sangiorgi, Luca, Versacci, Paolo, Riminucci, Mara, Grammatico, Paola, Zambrano, Anna, Martini, Lorena, Castori, Marco, Botman, Esmee, Westerheim, Ingunn, Zhytnik, Lidiia, Micha, Dimitra, and Eekhoff, Elisabeth Marelise W.

Published
2024
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2. Comparison between the EKFC-equation and machine learning models to predict Glomerular Filtration Rate

Author

Felipe Kenji Nakano, Anna Åkesson, Jasper de Boer, Klest Dedja, Robbe D’hondt, Fateme Nateghi Haredasht, Jonas Björk, Marie Courbebaisse, Lionel Couzi, Natalie Ebert, Björn O. Eriksen, R. Neil Dalton, Laurence Derain-Dubourg, Francois Gaillard, Cyril Garrouste, Anders Grubb, Lola Jacquemont, Magnus Hansson, Nassim Kamar, Christophe Legendre, Karin Littmann, Christophe Mariat, Toralf Melsom, Lionel Rostaing, Andrew D. Rule, Elke Schaeffner, Per-Ola Sundin, Arend Bökenkamp, Ulla Berg, Kajsa Åsling-Monemi, Luciano Selistre, Anders Larsson, Ulf Nyman, Antoine Lanot, Hans Pottel, Pierre Delanaye, and Celine Vens

Subjects
Medicine, Science
Abstract

Abstract In clinical practice, the glomerular filtration rate (GFR), a measurement of kidney functioning, is normally calculated using equations, such as the European Kidney Function Consortium (EKFC) equation. Despite being the most general equation, EKFC, just like previously proposed approaches, can still struggle to achieve satisfactory performance, limiting its clinical applicability. As a possible solution, recently machine learning (ML) has been investigated to improve GFR prediction, nonetheless the literature still lacks a general and multi-center study. Using a dataset with 19,629 patients from 13 cohorts, we investigate if ML can improve GFR prediction in comparison to EKFC. More specifically, we compare diverse ML methods, which were allowed to use age, sex, serum creatinine, cystatin C, height, weight and BMI as features, in internal and external cohorts against EKFC. The results show that the most performing ML method, random forest (RF), and EKFC are very competitive where RF and EKFC achieved respectively P10 and P30 values of 0.45 (95% CI 0.44;0.46) and 0.89 (95% CI 0.88;0.90), whereas EKFC yielded 0.44 (95% CI 0.43; 0.44) and 0.89 (95% CI 0.88; 0.90), considering the entire cohort. Small differences were, however, observed in patients younger than 12 years where RF slightly outperformed EKFC.

Published
2024
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3. Comparison between the EKFC-equation and machine learning models to predict Glomerular Filtration Rate

Author

Nakano, Felipe Kenji, Åkesson, Anna, de Boer, Jasper, Dedja, Klest, D’hondt, Robbe, Haredasht, Fateme Nateghi, Björk, Jonas, Courbebaisse, Marie, Couzi, Lionel, Ebert, Natalie, Eriksen, Björn O., Dalton, R. Neil, Derain-Dubourg, Laurence, Gaillard, Francois, Garrouste, Cyril, Grubb, Anders, Jacquemont, Lola, Hansson, Magnus, Kamar, Nassim, Legendre, Christophe, Littmann, Karin, Mariat, Christophe, Melsom, Toralf, Rostaing, Lionel, Rule, Andrew D., Schaeffner, Elke, Sundin, Per-Ola, Bökenkamp, Arend, Berg, Ulla, Åsling-Monemi, Kajsa, Selistre, Luciano, Larsson, Anders, Nyman, Ulf, Lanot, Antoine, Pottel, Hans, Delanaye, Pierre, and Vens, Celine

Published
2024
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6. Atrioventricular Septal Defects

Author

Bökenkamp, Regina, Hahurij, Nathan D., Anderson, Robert H., editor, Backer, Carl L., editor, Berger, Stuart, editor, Blom, Nico A., editor, Holzer, Ralf J., editor, Robinson, Joshua D., editor, and Abdulla, Ra-id, Editor-in-Chief

Published
2024
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7. Atrial Septal Defects

Author

Hahurij, Nathan D., Bökenkamp, Regina, Anderson, Robert H., editor, Backer, Carl L., editor, Berger, Stuart, editor, Blom, Nico A., editor, Holzer, Ralf J., editor, Robinson, Joshua D., editor, and Abdulla, Ra-id, Editor-in-Chief

Published
2024
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8. Long-term multi-wavelength study of 1ES 0647+250

Author

MAGIC Collaboration, Acciari, V. A., Aniello, T., Ansoldi, S., Antonelli, L. A., Engels, A. Arbet, Arcaro, C., Artero, M., Asano, K., Baack, D., Babić, A., Baquero, A., de Almeida, U. Barres, Barrio, J. A., Batković, I., González, J. Becerra, Bednarek, W., Bernardini, E., Bernardos, M., Berti, A., Besenrieder, J., Bhattacharyya, W., Bigongiari, C., Biland, A., Blanch, O., Bökenkamp, H., Bonnoli, G., Bošnjak, Ž., Burelli, I., Busetto, G., Carosi, R., Carretero-Castrillo, M., Ceribella, G., Chai, Y., Chilingarian, A., Cikota, S., Colombo, E., Contreras, J. L., Cortina, J., Covino, S., D'Amico, G., D'Elia, V., Da Vela, P., Dazzi, F., De Angelis, A., De Lotto, B., Del Popolo, A., Delfino, M., Delgado, J., Mendez, C. Delgado, Depaoli, D., Di Pierro, F., Di Venere, L., Espiñeira, E. Do Souto, Prester, D. Dominis, Donini, A., Dorner, D., Doro, M., Elsaesser, D., Emery, G., Ramazani, V. Fallah, Fariña, L., Fattorini, A., Font, L., Fruck, C., Fukami, S., Fukazawa, Y., López, R. J. García, Garczarczyk, M., Gasparyan, S., Gaug, M., Paiva, J. G. Giesbrecht, Giglietto, N., Giordano, F., Gliwny, P., Godinović, N., Green, J. G., Green, D., Hadasch, D., Hahn, A., Hassan, T., Heckmann, L., Herrera, J., Hrupec, D., Hütten, M., Inada, T., Iotov, R., Ishio, K., Iwamura, Y., Martínez, I. Jiménez, Jormanainen, J., Kerszberg, D., Kobayashi, Y., Kubo, H., Kushida, J., Lamastra, A., Lelas, D., Leone, F., Lindfors, E., Linhoff, L., Lombardi, S., Longo, F., López-Coto, R., López-Moya, M., López-Oramas, A., Loporchio, S., Lorini, A., Lyard, E., Fraga, B. Machado de Oliveira, Majumdar, P., Makariev, M., Maneva, G., Manganaro, M., Mangano, S., Mannheim, K., Mariotti, M., Martínez, M., Aguilar, A. Mas, Mazin, D., Menchiari, S., Mender, S., Mićanović, S., Miceli, D., Miener, T., Miranda, J. M., Mirzoyan, R., Molina, E., Mondal, H. A., Moralejo, A., Morcuende, D., Moreno, V., Nakamori, T., Nanci, C., Nava, L., Neustroev, V., Rosillo, M. Nievas, Nigro, C., Nilsson, K., Nishijima, K., Ekoume, T. Njoh, Noda, K., Nozaki, S., Ohtani, Y., Oka, T., Otero-Santos, J., Paiano, S., Palatiello, M., Paneque, D., Paoletti, R., Paredes, J. M., Pavletić, L., Persic, M., Pihet, M., Podobnik, F., Moroni, P. G. Prada, Prandini, E., Principe, G., Priyadarshi, C., Puljak, I., Rhode, W., Ribó, M., Rico, J., Righi, C., Rugliancich, A., Sahakyan, N., Saito, T., Sakurai, S., Satalecka, K., Saturni, F. G., Schleicher, B., Schmidt, K., Schmuckermaier, F., Schubert, J. L., Schweizer, T., Sitarek, J., Sliusar, V., Sobczynska, D., Spolon, A., Stamerra, A., Strišković, J., Strom, D., Strzys, M., Suda, Y., Surić, T., Takahashi, M., Takeishi, R., Tavecchio, F., Temnikov, P., Terzić, T., Teshima, M., Tosti, L., Truzzi, S., Tutone, A., Ubach, S., van Scherpenberg, J., Vanzo, G., Acosta, M. Vazquez, Ventura, S., Verguilov, V., Viale, I., Vigorito, C. F., Vitale, V., Vovk, I., Walter, R., Will, M., Wunderlich, C., Yamamoto, T., Zarić, D., Acosta-Pulido, J. A., D'Ammando, F., Hovatta, T., Kiehlmann, S., Liodakis, I., Leto, C., Max-Moerbeck, W., Pacciani, L., Perri, M., Readhead, A. C. S., Reeves, R. A., and Verrecchia, F.

Subjects
Astrophysics - High Energy Astrophysical Phenomena
Abstract

The BL Lac object 1ES 0647+250 is one of the few distant $\gamma$-ray emitting blazars detected at very high energies (VHE, $\gtrsim$100 GeV) during a non-flaring state. It was detected with the MAGIC telescopes during its low activity in the years 2009-2011, as well as during three flaring activities in the years 2014, 2019 and 2020, with the highest VHE flux in the latter epoch. An extensive multi-instrument data set was collected within several coordinated observing campaigns throughout these years. We aim to characterise the long-term multi-band flux variability of 1ES 0647+250, as well as its broadband spectral energy distribution (SED) during four distinct activity states selected in four different epochs, in order to constrain the physical parameters of the blazar emission region under certain assumptions. We evaluate the variability and correlation of the emission in the different energy bands with the fractional variability and the Z-transformed Discrete Correlation Function, as well as its spectral evolution in X-rays and $\gamma$ rays. Owing to the controversy in the redshift measurements of 1ES 0647+250 reported in the literature, we also estimate its distance in an indirect manner through the comparison of the GeV and TeV spectra from simultaneous observations with Fermi-LAT and MAGIC during the strongest flaring activity detected to date. Moreover, we interpret the SEDs from the four distinct activity states within the framework of one-component and two-component leptonic models, proposing specific scenarios that are able to reproduce the available multi-instrument data., Comment: 20 pages, 7 figures. Accepted in A&A. Corresponding authors: Jorge Otero-Santos; Daniel Morcuende; Vandad Fallah Ramazani; Daniela Dorner; David Paneque (mailto: contact.magic@mpp.mpg.de)

Published
2022
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9. A lower bound on intergalactic magnetic fields from time variability of 1ES 0229+200 from MAGIC and Fermi/LAT observations

Author

MAGIC Collaboration, Acciari, V. A., Agudo, I., Aniello, T., Ansoldi, S., Antonelli, L. A., Engels, A. Arbet, Artero, M., Asano, K., Baack, D., Babić, A., Baquero, A., de Almeida, U. Barres, Barrio, J. A., Batković, I., González, J. Becerra, Bednarek, W., Bernardini, E., Bernardos, M., Berti, A., Besenrieder, J., Bhattacharyya, W., Bigongiari, C., Biland, A., Blanch, O., Bökenkamp, H., Bonnoli, G., Bošnjak, Ž., Burelli, I., Busetto, G., Carosi, R., Ceribella, G., Cerruti, M., Chai, Y., Chilingarian, A., Cikota, S., Colombo, E., Contreras, J. L., Cortina, J., Covino, S., D'Amico, G., D'Elia, V., Da Vela, P., Dazzi, F., De Angelis, A., De Lotto, B., Del Popolo, A., Delfino, M., Delgado, J., Mendez, C. Delgado, Depaoli, D., Di Pierro, F., Di Venere, L., Espiñeira, E. Do Souto, Prester, D. Dominis, Donini, A., Dorner, D., Doro, M., Elsaesser, D., Ramazani, V. Fallah, Fariña, L., Fattorini, A., Font, L., Fruck, C., Fukami, S., Fukazawa, Y., López, R. J. García, Garczarczyk, M., Gasparyan, S., Gaug, M., Giglietto, N., Giordano, F., Gliwny, P., Godinović, N., Green, J. G., Green, D., Hadasch, D., Hahn, A., Hassan, T., Heckmann, L., Herrera, J., Hrupec, D., Hütten, M., Inada, T., Iotov, R., Ishio, K., Iwamura, Y., Martínez, I. Jiménez, Jormanainen, J., Jouvin, L., Kerszberg, D., Kobayashi, Y., Kubo, H., Kushida, J., Lamastra, A., Lelas, D., Leone, F., Lindfors, E., Linhoff, L., Liodakis, I., Lombardi, S., Longo, F., López-Coto, R., López-Moya, M., López-Oramas, A., Loporchio, S., Lorini, A., Fraga, B. Machado de Oliveira, Maggio, C., Majumdar, P., Makariev, M., Mallamaci, M., Maneva, G., Manganaro, M., Mannheim, K., Mariotti, M., Martínez, M., Aguilar, A. Mas, Mazin, D., Menchiari, S., Mender, S., Mićanović, S., Miceli, D., Miener, T., Miranda, J. M., Mirzoyan, R., Molina, E., Mondal, H. A., Moralejo, A., Morcuende, D., Moreno, V., Moretti, E., Nakamori, T., Nanci, C., Nava, L., Neustroev, V., Rosillo, M. Nievas, Nigro, C., Nilsson, K., Nishijima, K., Noda, K., Nozaki, S., Ohtani, Y., Oka, T., Otero-Santos, J., Paiano, S., Palatiello, M., Paneque, D., Paoletti, R., Paredes, J. M., Pavletić, L., Peñil, P., Persic, M., Pihet, M., Moroni, P. G. Prada, Prandini, E., Priyadarshi, C., Puljak, I., Rhode, W., Ribó, M., Rico, J., Righi, C., Rugliancich, A., Sahakyan, N., Saito, T., Sakurai, S., Satalecka, K., Saturni, F. G., Schleicher, B., Schmidt, K., Schmuckermaier, F., Schubert, J. L., Schweizer, T., Sitarek, J., Šnidarić, I., Sobczynska, D., Spolon, A., Stamerra, A., Strišković, J., Strom, D., Strzys, M., Suda, Y., Surić, T., Takahashi, M., Takeishi, R., Tavecchio, F., Temnikov, P., Terzić, T., Teshima, M., Tosti, L., Truzzi, S., Tutone, A., Ubach, S., van Scherpenberg, J., Vanzo, G., Acosta, M. Vazquez, Ventura, S., Verguilov, V., Viale, I., Vigorito, C. F., Vitale, V., Vovk, I., Will, M., Wunderlich, C., Yamamoto, T., Zarić, D., Neronov, A., Semikoz, D., and Korochkin, A.

Subjects
Astrophysics - High Energy Astrophysical Phenomena, Astrophysics - Cosmology and Nongalactic Astrophysics
Abstract

Extended and delayed emission around distant TeV sources induced by the effects of propagation of gamma rays through the intergalactic medium can be used for the measurement of the intergalactic magnetic field (IGMF). We search for delayed GeV emission from the hard-spectrum TeV blazar 1ES 0229+200 with the goal to detect or constrain the IGMF-dependent secondary flux generated during the propagation of TeV gamma rays through the intergalactic medium. We analyze the most recent MAGIC observations over a 5 year time span and complement them with historic data of the H.E.S.S. and VERITAS telescopes along with a 12-year long exposure of the Fermi/LAT telescope. We use them to trace source evolution in the GeV-TeV band over one-and-a-half decade in time. We use Monte Carlo simulations to predict the delayed secondary gamma-ray flux, modulated by the source variability, as revealed by TeV-band observations. We then compare these predictions for various assumed IGMF strengths to all available measurements of the gamma-ray flux evolution. We find that the source flux in the energy range above 200 GeV experiences variations around its average on the 14 years time span of observations. No evidence for the flux variability is found in 1-100 GeV energy range accessible to Fermi/LAT. Non-detection of variability due to delayed emission from electromagnetic cascade developing in the intergalactic medium imposes a lower bound of B>1.8e-17 G for long correlation length IGMF and B>1e-14 G for an IGMF of the cosmological origin. Though weaker than the one previously derived from the analysis of Fermi/LAT data, this bound is more robust, being based on a conservative intrinsic source spectrum estimate and accounting for the details of source variability in the TeV energy band. We discuss implications of this bound for cosmological magnetic fields which might explain the baryon asymmetry of the Universe., Comment: 10 pages, 5 figures, accepted to A&A. Corresponding authors: Ievgen Vovk, Paolo Da Vela (mailto:contact.magic@mpp.mpg.de) and Andrii Neronov (mailto:Andrii.Neronov@unige.ch)

Published
2022
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10. Proton acceleration in thermonuclear nova explosions revealed by gamma rays

Author

MAGIC Collaboration, Acciari, V. A., Ansoldi, S., Antonelli, L. A., Engels, A. Arbet, Artero, M., Asano, K., Baack, D., Babić, A., Baquero, A., de Almeida, U. Barres, Barrio, J. A., Batković, I., González, J. Becerra, Bednarek, W., Bellizzi, L., Bernardini, E., Bernardos, M., Berti, A., Besenrieder, J., Bhattacharyya, W., Bigongiari, C., Biland, A., Blanch, O., Bökenkamp, H., Bonnoli, G., Bošnjak, Ž., Busetto, G., Carosi, R., Ceribella, G., Cerruti, M., Chai, Y., Chilingarian, A., Cikota, S., Colak, S. M., Colombo, E., Contreras, J. L., Cortina, J., Covino, S., D'Amico, G., D'Elia, V., Da Vela, P., Dazzi, F., De Angelis, A., De Lotto, B., Del Popolo, A., Delfino, M., Delgado, J., Mendez, C. Delgado, Depaoli, D., Di Pierro, F., Di Venere, L., Espiñeira, E. Do Souto, Prester, D. Dominis, Donini, A., Dorner, D., Doro, M., Elsaesser, D., Ramazani, V. Fallah, Alonso, L. Fariña, Fattorini, A., Fonseca, M. V., Font, L., Fruck, C., Fukami, S., Fukazawa, Y., López, R. J. García, Garczarczyk, M., Gasparyan, S., Gaug, M., Giglietto, N., Giordano, F., Gliwny, P., Godinović, N., Green, J. G., Green, D., Hadasch, D., Hahn, A., Hassan, T., Heckmann, L., Herrera, J., Hoang, J., Hrupec, D., Hütten, M., Inada, T., Ishio, K., Iwamura, Y., Martínez, I. Jiménez, Jormanainen, J., Jouvin, L., Kerszberg, D., Kobayashi, Y., Kubo, H., Kushida, J., Lamastra, A., Lelas, D., Leone, F., Lindfors, E., Linhoff, L., Lombardi, S., Longo, F., López-Coto, R., López-Moya, M., López-Oramas, A., Loporchio, S., Fraga, B. Machado de Oliveira, Maggio, C., Majumdar, P., Makariev, M., Mallamaci, M., Maneva, G., Manganaro, M., Mannheim, K., Maraschi, L., Mariotti, M., Martínez, M., Aguilar, A. Mas, Mazin, D., Menchiari, S., Mender, S., Mićanović, S., Miceli, D., Miener, T., Miranda, J. M., Mirzoyan, R., Molina, E., Moralejo, A., Morcuende, D., Moreno, V., Moretti, E., Nakamori, T., Nava, L., Neustroev, V., Rosillo, M. Nievas, Nigro, C., Nilsson, K., Nishijima, K., Noda, K., Nozaki, S., Ohtani, Y., Oka, T., Otero-Santos, J., Paiano, S., Palatiello, M., Paneque, D., Paoletti, R., Paredes, J. M., Pavletić, L., Peñil, P., Persic, M., Pihet, M., Moroni, P. G. Prada, Prandini, E., Priyadarshi, C., Puljak, I., Rhode, W., Ribó, M., Rico, J., Righi, C., Rugliancich, A., Sahakyan, N., Saito, T., Sakurai, S., Satalecka, K., Saturni, F. G., Schleicher, B., Schmidt, K., Schweizer, T., Sitarek, J., Šnidarić, I., Sobczynska, D., Spolon, A., Stamerra, A., Strišković, J., Strom, D., Strzys, M., Suda, Y., Surić, T., Takahashi, M., Takeishi, R., Tavecchio, F., Temnikov, P., Terzić, T., Teshima, M., Tosti, L., Truzzi, S., Tutone, A., Ubach, S., van Scherpenberg, J., Vanzo, G., Acosta, M. Vazquez, Ventura, S., Verguilov, V., Vigorito, C. F., Vitale, V., Vovk, I., Will, M., Wunderlich, C., Yamamoto, T., Zarić, D., Ambrosino, F., Cecconi, M., Catanzaro, G., Ferrara, C., Frasca, A., Munari, M., Giustolisi, L., Alonso-Santiago, J., Giarrusso, M., Munari, U., and Valisa, P.

Subjects
Astrophysics - High Energy Astrophysical Phenomena
Abstract

Classical novae are cataclysmic binary star systems in which the matter of a companion star is accreted on a white dwarf (WD). Accumulation of hydrogen in a layer eventually causes a thermonuclear explosion on the surface of the WD, brightening the WD to ~10^5 solar luminosities and triggering ejection of the accumulated matter.They provide extreme conditions required to accelerate particles, electrons or protons, to high energies. Here we present the detection of gamma rays by the MAGIC telescopes from the 2021 outburst of RS Ophiuchi (RS Oph), a recurrent nova with a red giant (RG) companion, that allowed us, for the first time, to accurately characterize the emission from a nova in the 60 GeV to 250 GeV energy range. The theoretical interpretation of the combined Fermi-LAT and MAGIC data suggests that protons are accelerated to hundreds of GeV in the nova shock. Such protons should create bubbles of enhanced Cosmic Ray density, on the order of 10 pc, from the recurrent novae., Comment: THIS VERSION IS AFTER THE JOURNAL REVIEW

Published
2022
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11. Investigating the blazar TXS 0506+056 through sharp multi-wavelength eyes during 2017-2019

Author

MAGIC Collaboration, Acciari, V. A., Aniello, T., Ansoldi, S., Antonelli, L. A., Engels, A. Arbet, Artero, M., Asano, K., Baack, D., Babić, A., Baquero, A., de Almeida, U. Barres, Barrio, J. A., Batković, I., González, J. Becerra, Bednarek, W., Bernardini, E., Bernardos, M., Berti, A., Besenrieder, J., Bhattacharyya, W., Bigongiari, C., Biland, A., Blanch, O., Bökenkamp, H., Bonnoli, G., Bošnjak, Ž., Busetto, G., Carosi, R., Ceribella, G., Cerruti, M., Chai, Y., Chilingarian, A., Cikota, S., Colombo, E., Contreras, J. L., Cortina, J., Covino, S., D'Amico, G., D'Elia, V., Da Vela, P., Dazzi, F., De Angelis, A., De Lotto, B., Del Popolo, A., Delfino, M., Delgado, J., Mendez, C. Delgado, Depaoli, D., Di Pierro, F., Di Venere, L., Espiñeira, E. Do Souto, Prester, D. Dominis, Donini, A., Dorner, D., Doro, M., Elsaesser, D., Ramazani, V. Fallah, Fariña, L., Fattorini, A., Font, L., Fruck, C., Fukami, S., Fukazawa, Y., López, R. J. García, Garczarczyk, M., Gasparyan, S., Gaug, M., Giglietto, N., Giordano, F., Gliwny, P., Godinović, N., Green, J. G., Green, D., Hadasch, D., Hahn, A., Hassan, T., Heckmann, L., Herrera, J., Hoang, J., Hrupec, D., Hütten, M., Inada, T., Iotov, R., Ishio, K., Iwamura, Y., Martínez, I. Jiménez, Jormanainen, J., Jouvin, L., Kerszberg, D., Kobayashi, Y., Kubo, H., Kushida, J., Lamastra, A., Lelas, D., Leone, F., Lindfors, E., Linhoff, L., Lombardi, S., Longo, F., López-Coto, R., López-Moya, M., López-Oramas, A., Loporchio, S., Fraga, B. Machado de Oliveira, Maggio, C., Majumdar, P., Makariev, M., Mallamaci, M., Maneva, G., Manganaro, M., Mannheim, K., Mariotti, M., Martínez, M., Aguilar, A. Mas, Mazin, D., Menchiari, S., Mender, S., Mićanović, S., Miceli, D., Miener, T., Miranda, J. M., Mirzoyan, R., Molina, E., Moralejo, A., Morcuende, D., Moreno, V., Moretti, E., Nakamori, T., Nava, L., Neustroev, V., Rosillo, M. Nievas, Nigro, C., Nilsson, K., Nishijima, K., Noda, K., Nozaki, S., Ohtani, Y., Oka, T., Otero-Santos, J., Paiano, S., Palatiello, M., Paneque, D., Paoletti, R., Paredes, J. M., Pavletić, L., Peñil, P., Persic, M., Pihet, M., Moroni, P. G. Prada, Prandini, E., Priyadarshi, C., Puljak, I., Rhode, W., Ribó, M., Rico, J., Righi, C., Rugliancich, A., Sahakyan, N., Saito, T., Sakurai, S., Satalecka, K., Saturni, F. G., Schleicher, B., Schmidt, K., Schmuckermaier, F., Schweizer, T., Sitarek, J., Šnidarić, I., Sobczynska, D., Spolon, A., Stamerra, A., Strišković, J., Strom, D., Strzys, M., Suda, Y., Surić, T., Takahashi, M., Takeishi, R., Tavecchio, F., Temnikov, P., Terzić, T., Teshima, M., Tosti, L., Truzzi, S., Tutone, A., Ubach, S., van Scherpenberg, J., Vanzo, G., Acosta, M. Vazquez, Ventura, S., Verguilov, V., Viale, I., Vigorito, C. F., Vitale, V., Vovk, I., Will, M., Wunderlich, C., Yamamoto, T., Zarić, D., Collaboration, OVRO, Hodges, M., Hovatta, T., Kiehlmann, S., Liodakis, I., Max-Moerbeck, W., Pearson, T. J., Readhead, A. C. S., Reeves, R. A., Collaboration, Metsähovi, Lähteenmaäki, A., Tornikoski, M., Tammi, J., D'Ammando, F., and Marchini, A.

Subjects
Astrophysics - High Energy Astrophysical Phenomena
Abstract

The blazar TXS 0506+056 got into the spotlight of the astrophysical community in September 2017, when a high-energy neutrino detected by IceCube (IceCube-170922A) was associated at the 3 $\sigma$ level to a $\gamma$-ray flare from this source. This multi-messenger photon-neutrino association remains, as per today, the most significant one ever observed. TXS 0506+056 was a poorly studied object before the IceCube-170922A event. To better characterize its broad-band emission, we organized a multi-wavelength campaign lasting 16 months (November 2017 to February 2019), covering the radio-band (Mets\"ahovi, OVRO), the optical/UV (ASAS-SN, KVA, REM, Swift/UVOT), the X-rays (Swift/XRT, NuSTAR), the high-energy $\gamma$ rays (Fermi/LAT) and the very-high-energy (VHE) $\gamma$ rays (MAGIC). In $\gamma$ rays, the behaviour of the source was significantly different from the 2017 one: MAGIC observations show the presence of flaring activity during December 2018, while the source only shows an excess at the 4$\sigma$ level during the rest of the campaign (74 hours of accumulated exposure); Fermi/LAT observations show several short (days-to-week timescale) flares, different from the long-term brightening of 2017. No significant flares are detected at lower energies. The radio light curve shows an increasing flux trend, not seen in other wavelengths. We model the multi-wavelength spectral energy distributions in a lepto-hadronic scenario, in which the hadronic emission emerges as Bethe-Heitler and pion-decay cascade in the X-rays and VHE $\gamma$ rays. According to the model presented here, the December 2018 $\gamma$-ray flare was connected to a neutrino emission that was too brief and not bright enough to be detected by current neutrino instruments., Comment: 18 pages, 6 figures; V2 to match published version, typo fixed

Published
2022
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12. [18F]NaF PET/CT as a Marker for Fibrodysplasia Ossificans Progressiva: From Molecular Mechanisms to Clinical Applications in Bone Disorders

Author

Jolien Zwama, Neeltje M. Rosenberg, Vincent A. Verheij, Pieter G. H. M. Raijmakers, Maqsood Yaqub, Esmée Botman, Ruben D. de Ruiter, Mark R. Garrelfs, Arend Bökenkamp, Dimitra Micha, Lothar A. Schwarte, Bernd P. Teunissen, Adriaan A. Lammertsma, Ronald Boellaard, and Elisabeth M. W. Eekhoff

Subjects
fibrodysplasia ossificans progressiva, 18F-sodium fluoride (18F-NaF), heterotopic ossification, musculoskeletal development, osteoblasts, positron emission tomography/computed tomography (PET/CT), Microbiology, QR1-502
Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic bone disorder characterized by episodic flare-ups in connective tissue, which are frequently followed by the formation of heterotopic ossification. The absence of available plasma-soluble biomarkers for flare-ups or heterotopic bone formation poses severe challenges to the monitoring of disease activity to measure or predict disease progression. Recently, 18-fluor-sodium fluoride positron emission tomography/computed tomography ([18F]NaF PET/CT) was introduced as a potential marker for ossifying FOP activity. This review discusses the pharmacokinetics of [18F]NaF in relation to the pathophysiology of FOP, and its use as a marker of local bone metabolism in a variety of bone-related disorders. In addition, the review specifically addresses the applicability of [18F]NaF PET/CT imaging in FOP as a monitoring modality.

Published
2024
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13. Combined searches for dark matter in dwarf spheroidal galaxies observed with the MAGIC telescopes, including new data from Coma Berenices and Draco

Author

MAGIC Collaboration, Acciari, V. A., Ansoldi, S., Antonelli, L. A., Engels, A. Arbet, Artero, M., Asano, K., Baack, D., Babić, A., Baquero, A., de Almeida, U. Barres, Barrio, J. A., Batković, I., González, J. Becerra, Bednarek, W., Bellizzi, L., Bernardini, E., Bernardos, M., Berti, A., Besenrieder, J., Bhattacharyya, W., Bigongiari, C., Biland, A., Blanch, O., Bökenkamp, H., Bonnoli, G., Bošnjak, Ž., Busetto, G., Carosi, R., Ceribella, G., Cerruti, M., Chai, Y., Chilingarian, A., Cikota, S., Colak, S. M., Colombo, E., Contreras, J. L., Cortina, J., Covino, S., D'Amico, G., D'Elia, V., Da Vela, P., Dazzi, F., De Angelis, A., De Lotto, B., Delfino, M., Delgado, J., Mendez, C. Delgado, Depaoli, D., Di Pierro, F., Di Venere, L., Espiñeira, E. Do Souto, Prester, D. Dominis, Donini, A., Dorner, D., Doro, M., Elsaesser, D., Ramazani, V. Fallah, Fattorini, A., Fonseca, M. V., Font, L., Fruck, C., Fukami, S., López, R. J. García, Garczarczyk, M., Gasparyan, S., Gaug, M., Giglietto, N., Giordano, F., Gliwny, P., Godinović, N., Green, J. G., Green, D., Hadasch, D., Hahn, A., Heckmann, L., Herrera, J., Hoang, J., Hrupec, D., Hütten, M., Inada, T., Ishio, K., Iwamura, Y., Jiménez, I., Jormanainen, J., Jouvin, L., Karjalainen, M., Kerszberg, D., Kobayashi, Y., Kubo, H., Kushida, J., Lamastra, A., Lelas, D., Leone, F., Lindfors, E., Linhoff, L., Lombardi, S., Longo, F., López-Coto, R., López-Moya, M., López-Oramas, A., Loporchio, S., Fraga, B. Machado de Oliveira, Maggio, C., Majumdar, P., Makariev, M., Mallamaci, M., Maneva, G., Manganaro, M., Mannheim, K., Maraschi, L., Mariotti, M., Martínez, M., Mazin, D., Menchiari, S., Mender, S., Mićanović, S., Miceli, D., Miener, T., Miranda, J. M., Mirzoyan, R., Molina, E., Moralejo, A., Morcuende, D., Moreno, V., Moretti, E., Neustroev, V., Nigro, C., Nilsson, K., Ninci, D., Nishijima, K., Noda, K., Nozaki, S., Ohtani, Y., Oka, T., Otero-Santos, J., Paiano, S., Palatiello, M., Paneque, D., Paoletti, R., Paredes, J. M., Pavletić, L., Peñil, P., Persic, M., Pihet, M., Moroni, P. G. Prada, Prandini, E., Priyadarshi, C., Puljak, I., Rhode, W., Ribó, M., Rico, J., Righi, C., Rugliancich, A., Saha, L., Sahakyan, N., Saito, T., Sakurai, S., Satalecka, K., Saturni, F. G., Schleicher, B., Schmidt, K., Schweizer, T., Sitarek, J., Šnidarić, I., Sobczynska, D., Spolon, A., Stamerra, A., Strišković, J., Strom, D., Strzys, M., Suda, Y., Surić, T., Takahashi, M., Takeishi, R., Tavecchio, F., Temnikov, P., Terzić, T., Teshima, M., Tosti, L., Truzzi, S., Tutone, A., Ubach, S., van Scherpenberg, J., Vanzo, G., Acosta, M. Vazquez, Ventura, S., Verguilov, V., Vigorito, C. F., Vitale, V., Vovk, I., Will, M., Wunderlich, C., and Zarić, D.

Subjects
Astrophysics - High Energy Astrophysical Phenomena
Abstract

Milky Way dwarf spheroidal galaxies (dSphs) are among the best candidates to search for signals of dark matter annihilation with Imaging Atmospheric Cherenkov Telescopes, given their high mass-to-light ratios and the fact that they are free of astrophysical gamma-ray emitting sources. Since 2011, MAGIC has performed a multi-year observation program in search for Weakly Interacting Massive Particles (WIMPs) in dSphs. Results on the observations of Segue 1 and Ursa Major II dSphs have already been published and include some of the most stringent upper limits (ULs) on the velocity-averaged cross-section $\langle \sigma_{\mathrm{ann}} v \rangle$ of WIMP annihilation from observations of dSphs. In this work, we report on the analyses of 52.1 h of data of Draco dSph and 49.5 h of Coma Berenices dSph observed with the MAGIC telescopes in 2018 and in 2019 respectively. No hint of a signal has been detected from either of these targets and new constraints on the $\langle \sigma_{\mathrm{ann}} v \rangle$ of WIMP candidates have been derived. In order to improve the sensitivity of the search and reduce the effect of the systematic uncertainties due to the $J$-factor estimates, we have combined the data of all dSphs observed with the MAGIC telescopes. Using 354.3 h of dSphs good quality data, 95 % CL ULs on $\langle \sigma_{\mathrm{ann}} v \rangle$ have been obtained for 9 annihilation channels. For most of the channels, these results reach values of the order of $10^{-24} $cm$^3$/s at ${\sim}1$ TeV and are the most stringent limits obtained with the MAGIC telescopes so far., Comment: 17 pages, 5 figures

Published
2021
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14. Observation of the gamma-ray binary HESS J0632+057 with the H.E.S.S., MAGIC, and VERITAS telescopes

Author

Adams, C. B., Benbow, W., Brill, A., Buckley, J. H., Capasso, M., Chromey, A. J., Errando, M., Falcone, A., Farrell, K. A., Feng, Q., Finley, J P., Foote, G., Fortson, L., Furniss, A., Gent, A., Gillanders, G. H., Giuri, C., Gueta, O., Hanna, D., Hassan, T., Hervet, O., Holder, J., Hona, B., Humensky, T. B., Jin, W., Kaaret, P., Kertzman, M., Kieda, D., Kleiner, T. K., Krennrich, F., Kumar, S., Lang, M. J., Lundy, M., Maier, G., McGrath, C. E., Moriarty, P., Mukherjee, R., Nieto, D., Nievas-Rosillo, M., O'Brien, S., Ong, R. A., Otte, A. N., Park, N., Patel, S., Pfrang, K., Pichel, A., Pohl, M., Prado, R. R., Quinn, J., Ragan, K., Reynolds, P. T., Ribeiro, D., Roache, E., Rovero, A. C., Ryan, J. L., Santander, M., Schlenstedt, S., Sembroski, G. H., Shang, R., Tak, D., Vassiliev, V. V., Weinstein, A., Williams, D. A., Williamson, T. J., Acciari, V. A., Ansoldi, S., Antonelli, L. A., Engels, A. Arbet, Artero, M., Asano, K., Baack, D., Babić, A., Baquero, A., de Almeida, U. Barres, Barrio, J. A., Batković, I., González, J. Becerra, Bednarek, W., Bellizzi, L., Bernardini, E., Bernardos, M., Berti, A., Besenrieder, J., Bhattacharyya, W., Bigongiari, C., Biland, A., Blanch, O., Bökenkamp, H., Bonnol, G., Bošnjak, Ž., Busetto, G., Carosi, R., Ceribella, G., Cerruti, M., Chai, Y., Chilingarian, A., Cikota, S., Colak, S. M., Colombo, E., Contreras, J. L., Cortina, J., Covino, S., D'Amico, G., D'Elia, V., Da Vela, P., Dazzi, F., De Angelis, A., De Lotto, B., Delfino, M., Delgado, J., Mendez, C. Delgado, Depaoli, D., Di Pierro, F., Di Venere, L., Espiñeira, E. Do Souto, Prester, D. Dominis, Donini, A., Dorner, D., Doro, M., Elsaesser, D., Ramazani, V. Fallah, Fattorini, A., Fonseca, M. V., Font, L., Fruck, C., Fukami, S., Fukazawa, Y., López, R. J. García, Garczarczyk, M., Gasparyan, S., Gaug, M., Giglietto, N., Giordano, F., Gliwny, P., Godinović, N., Green, J. G., Green, D., Hadasch, D., Hahn, A., Heckmann, L., Herrera, J., Hoang, J., Hrupec, D., Hütten, M., Inada, T., Ishio, K., Iwamura, Y., Martínez, I. Jiménez, Jormanainen, J., Jouvin, L., Karjalainen, M., Kerszberg, D., Kobayashi, Y., Kubo, H., Kushida, J., Lamastra, A., Lelas, D., Leone, F., Lindfors, E., Linhoff, L., Lombardi, S., Longo, F., López-Coto, R., López-Moya, M., López-Oramas, A., Loporchio, S., Fraga, B. Machado de Oliveira, Maggio, C., Majumdar, P., Makariev, M., Mallamaci, M., Maneva, G., Manganaro, M., Mannheim, K., Maraschi, L., Mariotti, M., Martínez, M., Mazin, D., Menchiari, S., Mender, S., Mićanović, S., Miceli, D., Miener, T., Miranda, J. M., Mirzoyan, R., Molina, E., Moralejo, A., Morcuende, D., Moreno, V., Moretti, E., Nakamori, T., Nava, L., Neustroev, V., Nigro, C., Nilsson, K., Nishijima, K., Nozaki, K. Noda S., Ohtani, Y., Oka, T., Otero-Santos, J., Paiano, S., Palatiello, M., Paneque, D., Paoletti, R., Paredes, J. M., Pavletić, L., Peñil, P., Persic, M., Pihet, M., Moroni, P. G. Prada, Prandini, E., Priyadarshi, C., Puljak, I., Rhode, W., Ribó, M., Rico, J., Righi, C., Rugliancich, A., Saha, L., Sahakyan, N., Saito, T., Sakurai, S., Satalecka, K., Saturni, F. G., Schleicher, B., Schmidt, K., Schweizer, T., Sitarek, J., Šnidarić, I., Spolon, D. Sobczynska A., Stamerra, A., Strišković, J., Strom, D., Strzys, M., Suda, Y., Surić, T., Takahashi, M., Takeishi, R., Tavecchio, F., Temnikov, P., Terzić, T., Teshima, M., Tosti, L., Truzzi, S., Tutone, A., Ubach, S., van Scherpenberg, J., Vanzo, G., Acosta, M. Vazquez, Ventura, S., Verguilov, V., Vigorito, C. F., Vitale, V., Vovk, I., Will, M., Wunderlich, C., Yamamoto, T., Zarić, D., Abdalla, H., Aharonian, F., Ait-Benkhali, F., Anguener, O., Arcaro, C., Ashkar, H., Backes, M., Martins, V. Barbosa, Barnard, M., Batzofin, R., Becherini, Y., Berge, D., Bernloehr, K., Bi, B., Boettcher, M., Boisson, C., Bolmont, J., de Bony, M., Breuhaus, M., Brose, R., Brun, F., Bulik, T., Caroff, S., Casanova, S., Chand, T., Chen, A., Cotter, G., Mbarubucyeye, J. Damascene, Devin, J., Djannati-Atai, A., Egberts, K., Ernenwein, J., Fegan, S., Fiasson, A., de Clairfontaine, G. Fichet, Fontaine, G., Fuessling, M., Funk, S., Gabici, S., Giavitto, G., Glawion, D., Glicenstein, J., Grondin, M., Hinton, J., Hofmann, W., Holch, T., Holler, M., Horns, D., Huang, Z., Jamrozy, M., Jankowsky, F., Joshi, V., Jung-Richardt, I., Kasai, E., Katarzynski, K., Khelifi, B., Komin, N., Kosack, K., Kostunin, D., Stum, S. Le, Lemiere, A., Lenain, J., Leuschner, F., Levy, C., Lohse, T., Luashvili, A., Lypova, I., Mackey, J., Majumdar, J., Malyshev, D., Marandon, V., Marchegiani, P., Marcowith, A., Marti'i-Devesa, G., Marx, R., Maurin, G., Meintjes, P., Mitchell, A., Moderski, R., Mohrmann, L., Montanari, A., Moulin, E., Muller, J., Murach, T., de Naurois, M., Nayerhoda, A., Niemiec, J., Noel, A., O'Brien, P., Ohm, S., Olivera-Nieto, L., de Ona-Wilhelmi, E., Ostrowski, M., Panny, S., Panter, M., Parsons, D., Peron, G., Poireau, V., Prokhorov, D., Prokoph, H., Puehlhofer, G., Punch, M., Quirrenbach, A., Reichherzer, P., Reimer, A., Reimer, O., Renaud, M., Rieger, F., Romoli, C., Rowell, G., Rudak, B., Ricarte, H. Rueda, Velasco, E. Ruiz, Sahakian, V., Sailer, S., Salzmann, H., Sanchez, D., Santangelo, A., Sasaki, M., Schuessler, F., Schutte, H., Schwanke, U., Senniappan, M., Shapopi, J., Simoni, R., Sol, H., Specovius, A., Spencer, S., Steenkamp, R., Steinmassl, S., Sun, L., Takahashi, T., Tanaka, T., Terrier, R., Tsuji, N., Uchiyama, Y., van Eldik, C., van Soelen, B., Veh, J., Venter, C., Vink, J., Wagner, S., White, R., Wierzcholska, A., Wong, Y. W., Zacharias, M., Zargaryan, D., Zdziarski, A., Zech, A., Zhu, S., Zouari, S., Zywucka, N., Moritani, Y., and Torres, D. F.

Subjects
Astrophysics - High Energy Astrophysical Phenomena
Abstract

The results of gamma-ray observations of the binary system HESS J0632+057 collected during 450 hours over 15 years, between 2004 and 2019, are presented. Data taken with the atmospheric Cherenkov telescopes H.E.S.S., MAGIC, and VERITAS at energies above 350 GeV were used together with observations at X-ray energies obtained with Swift-XRT, Chandra, XMM-Newton, NuSTAR, and Suzaku. Some of these observations were accompanied by measurements of the H{\alpha} emission line. A significant detection of the modulation of the VHE gamma-ray fluxes with a period of 316.7+-4.4 days is reported, consistent with the period of 317.3+-0.7 days obtained with a refined analysis of X-ray data. The analysis of data of four orbital cycles with dense observational coverage reveals short timescale variability, with flux-decay timescales of less than 20 days at very high energies. Flux variations observed over the time scale of several years indicate orbit-to-orbit variability. The analysis confirms the previously reported correlation of X-ray and gamma-ray emission from the system at very high significance, but can not find any correlation of optical H{\alpha} parameters with X-ray or gamma-ray energy fluxes in simultaneous observations. The key finding is that the emission of HESS J0632+057 in the X-ray and gamma-ray energy bands is highly variable on different time scales. The ratio of gamma-ray to X-ray flux shows the equality or even dominance of the gamma-ray energy range. This wealth of new data is interpreted taking into account the insufficient knowledge of the ephemeris of the system, and discussed in the context of results reported on other gamma-ray binary systems., Comment: Accepted for publication by The Astrophysical Journal

Published
2021
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15. Distinct types of intramitochondrial protein aggregates protect mitochondria against proteotoxic stress

Author

Lea Bertgen, Jan-Eric Bökenkamp, Tim Schneckmann, Christian Koch, Markus Räschle, Zuzana Storchová, and Johannes M. Herrmann

Subjects
CP: Molecular biology, CP: Cell biology, Biology (General), QH301-705.5
Abstract

Summary: Mitochondria consist of hundreds of proteins, most of which are inaccessible to the proteasomal quality control system of the cytosol. How cells stabilize the mitochondrial proteome during challenging conditions remains poorly understood. Here, we show that mitochondria form spatially defined protein aggregates as a stress-protecting mechanism. Two different types of intramitochondrial protein aggregates can be distinguished. The mitoribosomal protein Var1 (uS3m) undergoes a stress-induced transition from a soluble, chaperone-stabilized protein that is prevalent under benign conditions to an insoluble, aggregated form upon acute stress. The formation of Var1 bodies stabilizes mitochondrial proteostasis, presumably by sequestration of aggregation-prone proteins. The AAA chaperone Hsp78 is part of a second type of intramitochondrial aggregate that transiently sequesters proteins and promotes their folding or Pim1-mediated degradation. Thus, mitochondrial proteins actively control the formation of distinct types of intramitochondrial protein aggregates, which cooperate to stabilize the mitochondrial proteome during proteotoxic stress conditions.

Published
2024
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16. The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant

Author

Bos, Thomas A., Piers, Sebastiaan R. D., Wessels, Marja W., Houweling, Arjan C., Bökenkamp, Regina, Bootsma, Marianne, Bosman, Laurens P., Evertz, Reinder, Hellebrekers, Debby M. E. I., Hoedemaekers, Yvonne M., Knijnenburg, Jeroen, Lekanne Deprez, Ronald, van Mil, Anneke M., te Riele, Anneline S. J. M., van Slegtenhorst, Marjon A., Wilde, Arthur A. M., Yap, Sing-Chien, Dooijes, Dennis, Koopmann, Tamara T., van Tintelen, J. Peter, and Barge-Schaapveld, Daniela Q. C. M.

Published
2023
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18. PICS/AEPC/APPCS/CSANZ/SCAI/SOLACI: Expert Consensus Statement on Cardiac Catheterization for Pediatric Patients and Adults With Congenital Heart Disease

Author

Holzer, Ralf J., Bergersen, Lisa, Thomson, John, Aboulhosn, Jamil, Aggarwal, Varun, Akagi, Teiji, Alwi, Mazeni, Armstrong, Aimee K., Bacha, Emile, Benson, Lee, Bökenkamp, Regina, Carminati, Mario, Dalvi, Bharat, DiNardo, James, Fagan, Thomas, Fetterly, Kenneth, Ing, Frank F., Kenny, Damien, Kim, Dennis, Kish, Emily, O’Byrne, Michael, O’Donnell, Clare, Pan, Xiangbin, Paolillo, Joseph, Pedra, Carlos, Peirone, Alejandro, Singh, Harsimran S., Søndergaard, Lars, and Hijazi, Ziyad M.

Published
2024
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19. Iohexol plasma clearance measurement protocol standardization for adults: a consensus paper of the European Kidney Function Consortium

Author

Ebert, Natalie, Schaeffner, Elke, Seegmiller, Jesse C., van Londen, Marco, Bökenkamp, Arend, Cavalier, Etienne, Delanaye, Pierre, Derain-Dubourg, Laurence, Eriksen, Bjørn O., Indridason, Olafur S., Palsson, Runolfur, Shafi, Tariq, Christensson, Anders, Bevc, Sebastjan, Carrara, Fabiola, Courbebaisse, Marie, Dalton, R. Neil, van der Giet, Markus, Melsom, Toralf, Methven, Shona, Nordin, Gunnar, Pottel, Hans, Rule, Andrew D., Trillini, Matias, and White, Christine A.

Published
2024
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20. Transcatheter aortic valve-in-valve implantation in right ventricle-aorta conduit in an adult patient with Fontan circulation

Author

Marieke Nederend, Frank van der Kley, Madelien V. Regeer, Regina Bökenkamp, Arend de Weger, Monique R.M. Jongbloed, and Anastasia D. Egorova

Subjects
Fontan circulation, TAVI, Adult congenital heart disease, Valve-in-valve, Single ventricle physiology, Catheter intervention, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Catheter interventions can offer patient tailored solutions in high-risk congenital heart disease patients. A 21-year-old male with a Fontan circulation in the setting of unbalanced atrioventricular septal defect with a hypoplastic left ventricle and an aortic homograft connecting the right ventricular outflow tract to the ascending aorta, developed failure of the heavily calcified homograft with severe regurgitation and stenosis. He underwent three sequential transcatheter aortic valve-in-valve implantations to address the homograft failure and the subsequent paravalvular regurgitation, with satisfactory result and improved hemodynamics.

Published
2023
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21. An unusual case of unilateral vascular hypoplasia in an adult patient – late diagnosis of PHACE syndrome

Author

Madelien V. Regeer, J. Lauran Stöger, Regina Bökenkamp, Inge M.M. Lakeman, Mark G. Hazekamp, Philippine Kiѐs, Anastasia D. Egorova, and Monique R.M. Jongbloed

Subjects
Embryology, (Double) aortic arch, Aberrant right subclavian artery, Vascular hypoplasia, Adult congenital heart disease, PHACE syndrome, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

A case of unilateral vascular hypoplasia is presented. A female patient was born with a complex aortic arch anatomy - a double aortic arch with an interrupted left arch. Surgical correction was performed at the age of 3 months. The patient was also noted to have had an ipsilateral large infantile haemangioma. These findings raised the suspicion of the diagnosis of PHACE syndrome. PHACE syndrome is an acronym for Posterior fossa abnormalities, Haemangioma, Arterial anomalies, Cardiac anomalies and Eye anomalies. Future research is needed to elucidate the underlying pathophysiology in PHACE syndrome.

Published
2023
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22. Levamisole causes a transient increase in plasma creatinine levels but does not affect kidney function based on cystatin C

Author

Veltkamp, Floor, Bökenkamp, Arend, Slaats, Jeroen, Hamer, Henrike, and Bouts, Antonia H. M.

Subjects
Levamisole -- Patient outcomes -- Dosage and administration, Nephrotic syndrome -- Drug therapy, Creatinine -- Measurement -- Health aspects, Health
Abstract

Background In pediatric patients treated with levamisole to prevent relapses of idiopathic nephrotic syndrome (INS), a transient and non-progressive rise in creatinine levels has been observed. It has been suggested that levamisole affects tubular secretion of creatinine. However, other potential mechanisms - nephrotoxicity and interference with the analytical assay for creatinine - have never been thoroughly investigated. Methods In three steroid-sensitive nephrotic syndrome (SSNS) patients with elevated plasma creatinine levels, treated with levamisole 2.5 mg/kg every other day, serum cystatin C was determined. The glomerular filtration rate (GFR) was estimated using the full age spectrum for creatinine and the full age spectrum for cystatin C equations. Interference of levamisole with the enzymatic creatinine assay was tested using spare human plasma of different creatinine concentrations spiked with levamisole (4, 20, and 100 [micro]M). Results Three patients who received levamisole with elevated plasma creatinine levels had normal serum cystatin C levels and corresponding estimated GFR. There was no assay interference. Conclusion Levamisole increases plasma creatinine levels, which is most probably due to impaired tubular secretion of creatinine since there was no assay interference and patients had normal eGFR based on serum cystatin C. However, interference of metabolites of levamisole could not be excluded. To monitor GFR, cystatin C in addition to creatinine should be used and be measured before and during levamisole use., Author(s): Floor Veltkamp [sup.1] , Arend Bökenkamp [sup.1] [sup.2] , Jeroen Slaats [sup.3] , Henrike Hamer [sup.3] , Antonia H. M. Bouts [sup.1] Author Affiliations: (1) grid.7177.6, 0000000084992262, Department of [...]

Published
2022
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24. Proton acceleration in thermonuclear nova explosions revealed by gamma rays

Author

Acciari, V. A., Ansoldi, S., Antonelli, L. A., Arbet Engels, A., Artero, M., Asano, K., Baack, D., Babić, A., Baquero, A., Barres de Almeida, U., Barrio, J. A., Batković, I., Becerra González, J., Bednarek, W., Bellizzi, L., Bernardini, E., Bernardos, M., Berti, A., Besenrieder, J., Bhattacharyya, W., Bigongiari, C., Biland, A., Blanch, O., Bökenkamp, H., Bonnoli, G., Bošnjak, Ž., Busetto, G., Carosi, R., Ceribella, G., Cerruti, M., Chai, Y., Chilingarian, A., Cikota, S., Colak, S. M., Colombo, E., Contreras, J. L., Cortina, J., Covino, S., D’Amico, G., D’Elia, V., Da Vela, P., Dazzi, F., De Angelis, A., De Lotto, B., Del Popolo, A., Delfino, M., Delgado, J., Delgado Mendez, C., Depaoli, D., Di Pierro, F., Di Venere, L., Do Souto Espiñeira, E., Prester, D. Dominis, Donini, A., Dorner, D., Doro, M., Elsaesser, D., Fallah Ramazani, V., Fariña Alonso, L., Fattorini, A., Fonseca, M. V., Font, L., Fruck, C., Fukami, S., Fukazawa, Y., García López, R. J., Garczarczyk, M., Gasparyan, S., Gaug, M., Giglietto, N., Giordano, F., Gliwny, P., Godinović, N., Green, J. G., Green, D., Hadasch, D., Hahn, A., Hassan, T., Heckmann, L., Herrera, J., Hoang, J., Hrupec, D., Hütten, M., Inada, T., Ishio, K., Iwamura, Y., Jiménez Martínez, I., Jormanainen, J., Jouvin, L., Kerszberg, D., Kobayashi, Y., Kubo, H., Kushida, J., Lamastra, A., Lelas, D., Leone, F., Lindfors, E., Linhoff, L., Lombardi, S., Longo, F., López-Coto, R., López-Moya, M., López-Oramas, A., Loporchio, S., Machado de Oliveira Fraga, B., Maggio, C., Majumdar, P., Makariev, M., Mallamaci, M., Maneva, G., Manganaro, M., Mannheim, K., Maraschi, L., Mariotti, M., Martínez, M., Mas Aguilar, A., Mazin, D., Menchiari, S., Mender, S., Mićanović, S., Miceli, D., Miener, T., Miranda, J. M., Mirzoyan, R., Molina, E., Moralejo, A., Morcuende, D., Moreno, V., Moretti, E., Nakamori, T., Nava, L., Neustroev, V., Nievas Rosillo, M., Nigro, C., Nilsson, K., Nishijima, K., Noda, K., Nozaki, S., Ohtani, Y., Oka, T., Otero-Santos, J., Paiano, S., Palatiello, M., Paneque, D., Paoletti, R., Paredes, J. M., Pavletić, L., Peñil, P., Persic, M., Pihet, M., Prada Moroni, P. G., Prandini, E., Priyadarshi, C., Puljak, I., Rhode, W., Ribó, M., Rico, J., Righi, C., Rugliancich, A., Sahakyan, N., Saito, T., Sakurai, S., Satalecka, K., Saturni, F. G., Schleicher, B., Schmidt, K., Schweizer, T., Sitarek, J., Šnidarić, I., Sobczynska, D., Spolon, A., Stamerra, A., Strišković, J., Strom, D., Strzys, M., Suda, Y., Surić, T., Takahashi, M., Takeishi, R., Tavecchio, F., Temnikov, P., Terzić, T., Teshima, M., Tosti, L., Truzzi, S., Tutone, A., Ubach, S., van Scherpenberg, J., Vanzo, G., Vazquez Acosta, M., Ventura, S., Verguilov, V., Vigorito, C. F., Vitale, V., Vovk, I., Will, M., Wunderlich, C., Yamamoto, T., Zarić, D., Ambrosino, F., Cecconi, M., Catanzaro, G., Ferrara, C., Frasca, A., Munari, M., Giustolisi, L., Alonso-Santiago, J., Giarrusso, M., Munari, U., and Valisa, P.

Published
2022
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25. The Dutch Childhood Cancer Survivor Study (DCCSS)-LATER 2 kidney analysis examined long-term glomerular dysfunction in childhood cancer survivors

Author

Kooijmans, Esmee C.M., van der Pal, Helena J.H., Pluijm, Saskia M.F., van der Heiden-van der Loo, Margriet, Kremer, Leontien C.M., Bresters, Dorine, van Dulmen-den Broeder, Eline, van den Heuvel-Eibrink, Marry M., Loonen, Jacqueline J., Louwerens, Marloes, Neggers, Sebastian J.C., Ronckers, Cécile, Tissing, Wim J.E., de Vries, Andrica C.H., Kaspers, Gertjan J.L., Veening, Margreet A., and Bökenkamp, Arend

Published
2022
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26. Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy

Author

Norrish, Gabrielle, Cleary, Aoife, Field, Ella, Cervi, Elena, Boleti, Olga, Ziółkowska, Lidia, Olivotto, Iacopo, Khraiche, Diala, Limongelli, Giuseppe, Anastasakis, Aris, Weintraub, Robert, Biagini, Elena, Ragni, Luca, Prendiville, Terence, Duignan, Sophie, McLeod, Karen, Ilina, Maria, Fernandez, Adrian, Marrone, Chiara, Bökenkamp, Regina, Baban, Anwar, Kubus, Peter, Daubeney, Piers E.F., Sarquella-Brugada, Georgia, Cesar, Sergi, Klaassen, Sabine, Ojala, Tiina H., Bhole, Vinay, Medrano, Constancio, Uzun, Orhan, Brown, Elspeth, Gran, Ferran, Sinagra, Gianfranco, Castro, Francisco J., Stuart, Graham, Yamazawa, Hirokuni, Barriales-Villa, Roberto, Garcia-Guereta, Luis, Adwani, Satish, Linter, Katie, Bharucha, Tara, Gonzales-Lopez, Esther, Siles, Ana, Rasmussen, Torsten B., Calcagnino, Margherita, Jones, Caroline B., De Wilde, Hans, Kubo, Toru, Felice, Tiziana, Popoiu, Anca, Mogensen, Jens, Mathur, Sujeev, Centeno, Fernando, Reinhardt, Zdenka, Schouvey, Sylvie, Elliott, Perry M., and Kaski, Juan Pablo

Published
2022
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27. Combined searches for dark matter in dwarf spheroidal galaxies observed with the MAGIC telescopes, including new data from Coma Berenices and Draco

Author

Acciari, V.A., Ansoldi, S., Antonelli, L.A., Arbet Engels, A., Artero, M., Asano, K., Baack, D., Babić, A., Baquero, A., Barres de Almeida, U., Barrio, J.A., Batković, I., Becerra González, J., Bednarek, W., Bellizzi, L., Bernardini, E., Bernardos, M., Berti, A., Besenrieder, J., Bhattacharyya, W., Bigongiari, C., Biland, A., Blanch, O., Bökenkamp, H., Bonnoli, G., Bošnjak, Ž., Busetto, G., Carosi, R., Ceribella, G., Cerruti, M., Chai, Y., Chilingarian, A., Cikota, S., Colak, S.M., Colombo, E., Contreras, J.L., Cortina, J., Covino, S., D’Amico, G., D’Elia, V., Da Vela, P., Dazzi, F., De Angelis, A., De Lotto, B., Delfino, M., Delgado, J., Delgado Mendez, C., Depaoli, D., Di Pierro, F., Di Venere, L., Do Souto Espiñeira, E., Dominis Prester, D., Donini, A., Dorner, D., Doro, M., Elsaesser, D., Fallah Ramazani, V., Fattorini, A., Fonseca, M.V., Font, L., Fruck, C., Fukami, S., García López, R.J., Garczarczyk, M., Gasparyan, S., Gaug, M., Giglietto, N., Giordano, F., Gliwny, P., Godinović, N., Green, J.G., Green, D., Hadasch, D., Hahn, A., Heckmann, L., Herrera, J., Hoang, J., Hrupec, D., Hütten, M., Inada, T., Ishio, K., Iwamura, Y., Jiménez, I., Jormanainen, J., Jouvin, L., Karjalainen, M., Kerszberg, D., Kobayashi, Y., Kubo, H., Kushida, J., Lamastra, A., Lelas, D., Leone, F., Lindfors, E., Linhoff, L., Lombardi, S., Longo, F., López-Coto, R., López-Moya, M., López-Oramas, A., Loporchio, S., Machado de Oliveira Fraga, B., Maggio, C., Majumdar, P., Makariev, M., Mallamaci, M., Maneva, G., Manganaro, M., Mannheim, K., Maraschi, L., Mariotti, M., Martínez, M., Mazin, D., Menchiari, S., Mender, S., Mićanović, S., Miceli, D., Miener, T., Miranda, J.M., Mirzoyan, R., Molina, E., Moralejo, A., Morcuende, D., Moreno, V., Moretti, E., Neustroev, V., Nigro, C., Nilsson, K., Ninci, D., Nishijima, K., Noda, K., Nozaki, S., Ohtani, Y., Oka, T., Otero-Santos, J., Paiano, S., Palatiello, M., Paneque, D., Paoletti, R., Paredes, J.M., Pavletić, L., Peñil, P., Persic, M., Pihet, M., Prada Moroni, P.G., Prandini, E., Priyadarshi, C., Puljak, I., Rhode, W., Ribó, M., Rico, J., Righi, C., Rugliancich, A., Saha, L., Sahakyan, N., Saito, T., Sakurai, S., Satalecka, K., Saturni, F.G., Schleicher, B., Schmidt, K., Schweizer, T., Sitarek, J., Šnidarić, I., Sobczynska, D., Spolon, A., Stamerra, A., Strišković, J., Strom, D., Strzys, M., Suda, Y., Surić, T., Takahashi, M., Takeishi, R., Tavecchio, F., Temnikov, P., Terzić, T., Teshima, M., Tosti, L., Truzzi, S., Tutone, A., Ubach, S., van Scherpenberg, J., Vanzo, G., Vazquez Acosta, M., Ventura, S., Verguilov, V., Vigorito, C.F., Vitale, V., Vovk, I., Will, M., Wunderlich, C., and Zarić, D.

Published
2022
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28. [ 18 F]NaF PET/CT as a Marker for Fibrodysplasia Ossificans Progressiva: From Molecular Mechanisms to Clinical Applications in Bone Disorders.

Author

Zwama, Jolien, Rosenberg, Neeltje M., Verheij, Vincent A., Raijmakers, Pieter G. H. M., Yaqub, Maqsood, Botman, Esmée, de Ruiter, Ruben D., Garrelfs, Mark R., Bökenkamp, Arend, Micha, Dimitra, Schwarte, Lothar A., Teunissen, Bernd P., Lammertsma, Adriaan A., Boellaard, Ronald, and Eekhoff, Elisabeth M. W.

Subjects
FIBRODYSPLASIA ossificans progressiva, POSITRON emission tomography, COMPUTED tomography, HETEROTOPIC ossification, BONE diseases
Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic bone disorder characterized by episodic flare-ups in connective tissue, which are frequently followed by the formation of heterotopic ossification. The absence of available plasma-soluble biomarkers for flare-ups or heterotopic bone formation poses severe challenges to the monitoring of disease activity to measure or predict disease progression. Recently, 18-fluor-sodium fluoride positron emission tomography/computed tomography ([18F]NaF PET/CT) was introduced as a potential marker for ossifying FOP activity. This review discusses the pharmacokinetics of [18F]NaF in relation to the pathophysiology of FOP, and its use as a marker of local bone metabolism in a variety of bone-related disorders. In addition, the review specifically addresses the applicability of [18F]NaF PET/CT imaging in FOP as a monitoring modality. [ABSTRACT FROM AUTHOR]

Published
2024
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29. Estimating glomerular filtration in young people.

Author

Delanaye, Pierre, Derain-Dubourg, Laurence, Björk, Jonas, Courbebaisse, Marie, Couzi, Lionel, Gaillard, Francois, Garrouste, Cyril, Grubb, Anders, Jacquemont, Lola, Hansson, Magnus, Kamar, Nassim, Legendre, Christophe, Littmann, Karin, Mariat, Christophe, Rostaing, Lionel, Rule, Andrew D, Sundin, Per-Ola, Bökenkamp, Arend, Berg, Ulla, and Åsling-Monemi, Kajsa

Subjects
YOUNG adults, GLOMERULAR filtration rate, CHRONIC kidney failure, KIDNEY physiology, CONSORTIA
Abstract

Background Creatinine-based equations are the most used to estimate glomerular filtration rate (eGFR). The Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI), the re-expressed Lund-Malmö Revised (r-LMR) and the European Kidney Function Consortium (EKFC) equations are the most validated. The EKFC and r-LMR equations have been suggested to have better performances in young adults, but this is debated. Methods We collected data (GFR) measured by clearance of an exogenous marker (reference method), serum creatinine, age and sex from 2366 young adults (aged between 18 and 25 years) both from Europe and the USA. Results In the European cohorts (n  = 1892), the bias (in mL/min/1.73 m²) was systematically better for the EKFC and r-LMR equations compared with the CKD-EPI equation [2.28, 95% confidence interval (1.59; 2.91), –2.50 (–3.85; –1.76), 17.41 (16.49; 18.47), respectively]. The percentage of estimated GFR within 30% of measured GFR (P30) was also better for EKFC and r-LMR equations compared with the CKD-EPI equation [84.4% (82.8; 86.0), 87.2% (85.7; 88.7) and 65.4% (63.3; 67.6), respectively]. In the US cohorts (n  = 474), the bias for the EKFC and r-LMR equations was better than for the CKD-EPI equation in the non-Black population [0.97 (–1.69; 3.06), –2.62 (–5.14; –1.43) and 7.74 (5.97; 9.63), respectively], whereas the bias was similar in Black US individuals. P30 results were not different between the three equations in US cohorts. Analyses in sub-populations confirmed these results, except in individuals with high GFR levels (GFR ≥120 mL/min/1.73 m²) for whom the CKD-EPI equation might have a lower bias. Conclusions We demonstrated that both the EKFC and r-LMR creatinine-based equations have a better performance than the CKD-EPI equation in a young population. The only exception might be in patients with hyperfiltration. [ABSTRACT FROM AUTHOR]

Published
2024
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31. #2422 Iohexol plasma clearance measurement protocol standardization—a consensus of the European Kidney Function Consortium

Author

Ebert, Natalie, primary, Schaeffner, Elke, additional, Seegmiller, Jesse C, additional, van Londen, Marco, additional, Bökenkamp, Arend, additional, Cavalier, Etienne, additional, Delanaye, Pierre, additional, Derain-Dubourg, Laurence, additional, Eriksen, Bjørn O, additional, Pálsson, Runólfur, additional, Shafi, Tariq, additional, and White, Christine A, additional

Published
2024
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34. Growth of the aortic root in children and young adults with Marfan syndrome

Author

Gerard Pals, Yvonne Hilhorst-Hofstee, Annelies E van der Hulst, Regina Bökenkamp, Nicolaas A Blom, Elroy van Elsäcker, Arja S Vink, Leonie A Menke, and Ad C P M Backx

Subjects
Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Objectives The primary aim was to gain insight into the growth of the aortic root in children and young adults with Marfan syndrome (MFS). Furthermore, we aimed to identify a clinical profile of patients with MFS who require an aortic root replacement at a young age with specific interest in age, sex, height and fibrillin-1 (FBN1) genotype.Methods Aortic root dimensions of 97 patients with MFS between 0 year and 20 years and 30 controls were serially assessed with echocardiography. Trends were analysed using a linear mixed-effect model. Additionally, including only patients with MFS, we allowed trends to differ by sex, aortic root replacement and type of FBN1 mutation.Results Average aortic root dilatation in patients with MFS became more pronounced after the age of 8 years. In the MFS cohort, male patients had a significantly greater aortic root diameter than female patients, which was in close relationship with patient height. There was no difference in aortic root growth between children with dominant negative (DN) or haploinsufficient FBN1 mutations. However, DN-FBN1 variants resulting in loss of cysteine content were associated with a more severe phenotype. Eleven children needed an aortic root replacement. Compared with patients with MFS without aortic root surgery, these children had a significantly larger aortic root diameter from an early age.Conclusions This study provides clinically useful longitudinal growth charts on aortic root growth in children and young adults with MFS. Children requiring prophylactic aortic root replacement during childhood can be identified at a young age. Our growth charts can help clinicians in decision making with regard to follow-up and prophylactic therapy. Loss of cysteine content in the FBN1 protein was associated with larger aortic root dimensions.

Published
2022
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35. Hybrid palliation to promote growth of left ventricle and left ventricular outflow tract.

Author

Eising, Jacobien B, Bökenkamp, Regina, Schneider, Adriaan W, Kuipers, Irene M, and Hazekamp, Mark G

Subjects
*VENTRICULAR outflow obstruction, *PATENT ductus arteriosus, *BODY surface area, *AORTIC valve, *MITRAL valve
Abstract

OBJECTIVES In patients with borderline left hearts or a severe left ventricular outflow tract obstruction, hybrid palliation can be used to stabilize the patient and postpone biventricular repair (BVR). In this study, we analysed growth of left-sided structures and outcomes of these patients. METHODS We conducted a retrospective cohort study including patients who received hybrid palliation between January 2010 and September 2023. Echo measurements were collected at hybrid palliation, BVR and last follow-up. Growth of left ventricular structures were analysed. RESULTS In 38 patients, hybrid palliation was used to promote growth of left ventricular structures. In total, 15 patients received a Ross–Konno/Yasui procedure, while 23 patients received conventional BVR. In patients with a conventional BVR, a significant increase was found in left ventricular volume indexed by body surface area, Z-score of aortic valve and left ventricular outflow tract between hybrid palliation and BVR. Mitral valve Z-score did not increase significantly. After BVR until follow-up, only increase of the aortic valve Z-scores and left ventricular volume indexed by body surface area was found significant. Of all included patients (n  = 38), additional surgical procedures were necessary in 8 patients during the interstage period and 15 patients after BVR. Additional catheter interventions were needed in 14 patients in the interstage period and 15 after BVR. Six patients died, with no mortality in the conventional BVR group. CONCLUSIONS Hybrid palliation as part of a staged BVR is a safe and effective initial step and promotes the growth of left ventricular structures in patients with small left-sided heart structures. Close follow-up is mandatory because extra catheter or surgical interventions are frequently needed. [ABSTRACT FROM AUTHOR]

Published
2024
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38. PICS/AEPC/APPCS/CSANZ/SCAI/SOLACI: Expert Consensus Statement on Cardiac Catheterization for Pediatric Patients and Adults With Congenital Heart Disease

Author

Holzer, Ralf J., primary, Bergersen, Lisa, additional, Thomson, John, additional, Aboulhosn, Jamil, additional, Aggarwal, Varun, additional, Akagi, Teiji, additional, Alwi, Mazeni, additional, Armstrong, Aimee K., additional, Bacha, Emile, additional, Benson, Lee, additional, Bökenkamp, Regina, additional, Carminati, Mario, additional, Dalvi, Bharat, additional, DiNardo, James, additional, Fagan, Thomas, additional, Fetterly, Kenneth, additional, Ing, Frank F., additional, Kenny, Damien, additional, Kim, Dennis, additional, Kish, Emily, additional, O’Byrne, Michael, additional, O’Donnell, Clare, additional, Pan, Xiangbin, additional, Paolillo, Joseph, additional, Pedra, Carlos, additional, Peirone, Alejandro, additional, Singh, Harsimran S., additional, Søndergaard, Lars, additional, and Hijazi, Ziyad M., additional

Published
2023
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39. A riddle wrapped in an enigma: acute kidney injury in a girl with Crohn's disease: Answers

Author

Regev, Lilach C., Bouts, Antonia H.M., Groothoff, Jaap W., van Wijk, Joanna A.E., van Wijk, Michiel, van der Valk, Paul, and Bökenkamp, Arend

Subjects
Acute renal failure -- Diagnosis -- Risk factors -- Demographic aspects, Crohn's disease -- Complications and side effects -- Demographic aspects, Health
Abstract

Author(s): Lilach C. Regev [sup.1] , Antonia H.M. Bouts [sup.2] , Jaap W. Groothoff [sup.2] , Joanna A.E. van Wijk [sup.2] , Michiel van Wijk [sup.3] , Paul van der [...]

Published
2020
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40. Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy

Author

Norrish, Gabrielle, Ding, Tao, Field, Ella, Cervi, Elena, Ziółkowska, Lidia, Olivotto, Iacopo, Khraiche, Diala, Limongelli, Giuseppe, Anastasakis, Aris, Weintraub, Robert, Biagini, Elena, Ragni, Luca, Prendiville, Terrence, Duignan, Sophie, McLeod, Karen, Ilina, Maria, Fernández, Adrián, Marrone, Chiara, Bökenkamp, Regina, Baban, Anwar, Kubus, Peter, Daubeney, Piers E.F., Sarquella-Brugada, Georgia, Cesar, Sergi, Klaassen, Sabine, Ojala, Tiina H., Bhole, Vinay, Medrano, Constancio, Uzun, Orhan, Brown, Elspeth, Gran, Ferran, Sinagra, Gianfranco, Castro, Francisco J., Stuart, Graham, Vignati, Gabriele, Yamazawa, Hirokuni, Barriales-Villa, Roberto, Garcia-Guereta, Luis, Adwani, Satish, Linter, Katie, Bharucha, Tara, Garcia-Pavia, Pablo, Siles, Ana, Rasmussen, Torsten B., Calcagnino, Margherita, Jones, Caroline B., De Wilde, Hans, Kubo, Toru, Felice, Tiziana, Popoiu, Anca, Mogensen, Jens, Mathur, Sujeev, Centeno, Fernando, Reinhardt, Zdenka, Schouvey, Sylvie, O’Mahony, Costas, Omar, Rumana Z., Elliott, Perry M., and Kaski, Juan Pablo

Published
2022
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41. Proteinuria-take a closer look!

Author

Bökenkamp, Arend

Subjects
Health
Abstract

Proteinuria is a hallmark of kidney disease. Therefore, measurement of urine protein content plays a central role in any diagnostic work-up for kidney disease. In many cases, proteinuria analysis is restricted to the measurement of total protein content knowing that very high levels of proteinuria (nephrotic proteinuria) are characteristic of glomerular disease. Still, proteinuria can also be a manifestation of impaired tubular protein reabsorption or even be physiological. This review will discuss the physiology of renal protein handling and give guidance on a more sophisticated analysis of proteinuria differentiating albumin, low-molecular weight proteins and immunoglobulins. These non-invasive tests are available in most routine clinical laboratories and may guide the clinician in the diagnostic process before ordering far more expensive (molecular genetic testing) and/or invasive (kidney biopsy) diagnostics., Author(s): Arend Bökenkamp [sup.1] Author Affiliations: (1) grid.12380.38, 0000 0004 1754 9227, Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam University Medical Center, Vrije Universiteit, , De Boelelaan 1112, NL-1081, [...]

Published
2020
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44. Deterioration of pulmonary function: An early complication in Fibrodysplasia Ossificans Progressiva

Author

Esmée Botman, Bernard J. Smilde, Max Hoebink, Sanne Treurniet, Pieter Raijmakers, Otto Kamp, Bernd P. Teunissen, Arend Bökenkamp, Patrick Jak, Adriaan A. Lammertsma, Joost G. van den Aardweg, Anco Boonstra, and Elisabeth M.W. Eekhoff

Subjects
Fibrodysplasia Ossificans Progressiva, Heterotopic ossification, Pulmonary function, Diseases of the musculoskeletal system, RC925-935
Abstract

Fibrodysplasia Ossificans Progressiva (FOP) is a genetic disease characterized by the formation of heterotopic ossification (HO) in connective tissues. HO first develops in the thoracic region, before more peripheral sites are affected. Due to HO along the thoracic cage, its movements are restricted and pulmonary function deteriorates. Because development of HO is progressive, it is likely that pulmonary function deteriorates over time, but longitudinal data on pulmonary function in FOP are missing.Longitudinal pulmonary function tests (PFTs) from seven FOP patients were evaluated retrospectively to assess whether there were changes in pulmonary function during aging. Forced vital capacity (FVC), forced expiratory volume in one second (FEV1), total lung capacity (TLC), residual volume (RV) and diffusing lung capacity for carbon dioxide divided by alveolar volume (DLCO/VA) were included. In addition, HO volume along the thorax together with its progression as identified by whole body low dose CT scans were correlated to PFT data.Per patient, aged 7–57 years at the time of the first PFT, three to nine PFTs were available over a period of 6–18 years. Restrictive pulmonary function, identified by TLC or suspected by FVC, was found in all, but one, patients. In three patients, TLC, FVC or both decreased further during the follow-up period. All, but one, patients had an increased RV. The DLCO/VA ratio was normal in all FOP patients. Interestingly, FEV1 increased after a surgical intervention to unlock the jaw. In four out of five patients total HO volume in the thoracic region progressed beyond early adulthood, but no further decline in FVC was observed.In conclusion, restrictive pulmonary function was found in the majority of patients already at an early age. Our data suggest that the deterioration in pulmonary function is age dependent.

Published
2021
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45. Author Correction: Proton acceleration in thermonuclear nova explosions revealed by gamma rays

Author

Acciari, V. A., Ansoldi, S., Antonelli, L. A., Engels, A. Arbet, Artero, M., Asano, K., Baack, D., Babić, A., Baquero, A., de Almeida, U. Barres, Barrio, J. A., Batković, I., González, J. Becerra, Bednarek, W., Bellizzi, L., Bernardini, E., Bernardos, M., Berti, A., Besenrieder, J., Bhattacharyya, W., Bigongiari, C., Biland, A., Blanch, O., Bökenkamp, H., Bonnoli, G., Bošnjak, Ž., Busetto, G., Carosi, R., Ceribella, G., Cerruti, M., Chai, Y., Chilingarian, A., Cikota, S., Colak, S. M., Colombo, E., Contreras, J. L., Cortina, J., Covino, S., D’Amico, G., D’Elia, V., Da Vela, P., Dazzi, F., De Angelis, A., De Lotto, B., Del Popolo, A., Delfino, M., Delgado, J., Mendez, C. Delgado, Depaoli, D., Di Pierro, F., Di Venere, L., Espiñeira, E. Do Souto, Prester, D. Dominis, Donini, A., Dorner, D., Doro, M., Elsaesser, D., Ramazani, V. Fallah, Alonso, L. Fariña, Fattorini, A., Fonseca, M. V., Font, L., Fruck, C., Fukami, S., Fukazawa, Y., López, R. J. García, Garczarczyk, M., Gasparyan, S., Gaug, M., Giglietto, N., Giordano, F., Gliwny, P., Godinović, N., Green, J. G., Green, D., Hadasch, D., Hahn, A., Hassan, T., Heckmann, L., Herrera, J., Hoang, J., Hrupec, D., Hütten, M., Inada, T., Ishio, K., Iwamura, Y., Martínez, I. Jiménez, Jormanainen, J., Jouvin, L., Kerszberg, D., Kobayashi, Y., Kubo, H., Kushida, J., Lamastra, A., Lelas, D., Leone, F., Lindfors, E., Linhoff, L., Lombardi, S., Longo, F., López-Coto, R., López-Moya, M., López-Oramas, A., Loporchio, S., de Oliveira Fraga, B. Machado, Maggio, C., Majumdar, P., Makariev, M., Mallamaci, M., Maneva, G., Manganaro, M., Mannheim, K., Maraschi, L., Mariotti, M., Martínez, M., Aguilar, A. Mas, Mazin, D., Menchiari, S., Mender, S., Mićanović, S., Miceli, D., Miener, T., Miranda, J. M., Mirzoyan, R., Molina, E., Moralejo, A., Morcuende, D., Moreno, V., Moretti, E., Nakamori, T., Nava, L., Neustroev, V., Rosillo, M. Nievas, Nigro, C., Nilsson, K., Nishijima, K., Noda, K., Nozaki, S., Ohtani, Y., Oka, T., Otero-Santos, J., Paiano, S., Palatiello, M., Paneque, D., Paoletti, R., Paredes, J. M., Pavletić, L., Peñil, P., Persic, M., Pihet, M., Moroni, P. G. Prada, Prandini, E., Priyadarshi, C., Puljak, I., Rhode, W., Ribó, M., Rico, J., Righi, C., Rugliancich, A., Sahakyan, N., Saito, T., Sakurai, S., Satalecka, K., Saturni, F. G., Schleicher, B., Schmidt, K., Schweizer, T., Sitarek, J., Šnidarić, I., Sobczynska, D., Spolon, A., Stamerra, A., Strišković, J., Strom, D., Strzys, M., Suda, Y., Surić, T., Takahashi, M., Takeishi, R., Tavecchio, F., Temnikov, P., Terzić, T., Teshima, M., Tosti, L., Truzzi, S., Tutone, A., Ubach, S., van Scherpenberg, J., Vanzo, G., Acosta, M. Vazquez, Ventura, S., Verguilov, V., Vigorito, C. F., Vitale, V., Vovk, I., Will, M., Wunderlich, C., Yamamoto, T., Zarić, D., Ambrosino, F., Cecconi, M., Catanzaro, G., Ferrara, C., Frasca, A., Munari, M., Giustolisi, L., Alonso-Santiago, J., Giarrusso, M., Munari, U., and Valisa, P.

Published
2022
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46. Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals.

Author

Koene, Saskia, Ropers, Fabiënne Gwendolin, Wieland, Jannelien, Rybak, Tamara, Wildschut, Floor, Berghuis, Dagmar, Morgan, Angela, Trelles, Maria Pilar, Scheepe, Jeroen Ronald, Bökenkamp, Regina, Peeters-Scholte, Cacha M. P. C. D., Braden, Ruth, and Santen, Gijs W. E.

Abstract

Background The first studies on patients with forkhead-box protein P1 (FOXP1) syndrome reported associated global neurodevelopmental delay, autism symptomatology, dysmorphic features and cardiac and urogenital malformations. The aim of this study was to assess the prevalence of congenital abnormalities in an unbiased cohort of patients with FOXP1 syndrome and to document rare complications. Methods Patients with FOXP1 syndrome were included, mostly diagnosed via whole-exome sequencing for neurodevelopmental delay. A parent-report questionnaire was used to assess medical signs and symptoms, including questions about features rated as most burdensome by patients and their family. Results Forty individuals were included, 20 females and 20 males. The mean age at assessment was 13.2 years (median 8.5 years; range 2-54 years; =18 years n = 7). Seven adults were included. All patients had developmental problems, including cognitive, communication, social-emotional and motor delays. The most prevalent medical signs and symptoms include delayed bladder control, sleeping problems, hypermetropia, strabismus, sacral dimple, undescended testes, abnormal muscle tone and airway infections. The most burdensome complaints for patients with FOXP1 syndrome, as perceived by parents, include intellectual disability, impaired communication, behaviour problems, lack of age-appropriate self-reliance, attention problems and anxiety. According to parents, patients have quite similar reported symptoms, although incontinence, obsessions and a complex sensory profile have a higher ranking. Conclusion The results of this study may be used to further guide medical management and identify patient priorities for future research targeted on those features of FOXP1 syndrome that most impair quality of life of patients and their families. [ABSTRACT FROM AUTHOR]

Published
2024
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48. Extending the cystatin C based EKFC-equation to children – validation results from Europe

Author

Pottel, Hans, primary, Nyman, Ulf, additional, Björk, Jonas, additional, Berg, Ulla, additional, Bökenkamp, Arend, additional, Dubourg, Laurence Derain, additional, Lemoine, Sandrine, additional, Goffin, Karolien, additional, Grubb, Anders, additional, Hansson, Magnus, additional, Larsson, Anders, additional, Littmann, Karin, additional, Åsling-Monemi, Kajsa, additional, Adeli, Khosrow, additional, Cavalier, Etienne, additional, and Delanaye, Pierre, additional

Published
2023
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