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1,197 results on '"Janssen, E."'

1. Development of PCR screening assays focused on gene-coding sequences for GMO detection

Author

Debode, F., Janssen, E., and Berben, G.

Subjects
GMO detection, genes, pat, bar, EPSPS, gox, gus, hsp70, screening, structural elements, real-time PCR, Biotechnology, TP248.13-248.65, Environmental sciences, GE1-350
Abstract

Description of the subject. This paper describes the development, evaluation and limitations of screening PCR assays based on genes and for use in GMO detection. Objectives. The aim of this research is to propose new PCR assays based on gene-coding sequences that will join a panel of existing screening assays to make better GMO detection possible. Method. Real-time PCR methods using double-dye probes were developed for genes frequently encountered in GM constructs and evaluated in terms of specificity and sensitivity. Results. Eight real-time PCR tests were designed based on the sequences of the bar, pat, EPSPS, gox, gus and hsp70 genes. Two of them proved of limited interest due to the presence of positive signals linked to the presence of the donor organisms: residual sequences of Escherichia coli in the master mixes for the gus PCR assay and while for the hsp70 PCR test, hsp70 being only used in GM maize at present, it is useless as hsp70 originates from maize. The assays for bar, pat, EPSPS and gox were found to successfully detect the corresponding structural elements introduced in GM constructs. Several PCR assays were proposed for the EPSPS gene in order to cover the different versions of the gene. Conclusions. Real-time PCR tests for bar, pat, EPSPS and gox were developed and met the expected performance criteria in terms of specificity and sensitivity. The targets can be amplified with the same PCR conditions as PCR assays already developed for the detection of promoters and terminators, and can be used in combination on the same PCR plate in order to provide wider coverage of GMOs and initial information concerning the GMO(s) present.

Published
2018
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2. The influence of amplicon length on real-time PCR results

Author

Debode, F., Marien, A., Janssen, E., Bragard, C., and Berben, G.

Subjects
GMO, real-time PCR, SYBR® Green, probes, primers, amplicon size, Biotechnology, TP248.13-248.65, Environmental sciences, GE1-350
Abstract

Description of the subject. This paper discusses the influence of amplicon length on real-time PCR results. Objectives. The aim of the experiments was to show that amplicon size has an influence on detection. Method. Tests were performed on genomic and plasmid DNA. Double-dye probes and SYBR® Green were used for detection by real-time PCR. Primers were selected in order to produce fragments with increasing sizes. Experiments dealt with two targets: an endogenous target for soybean (part of the lectin gene) and a transgenic target (junction P35S-CTP of the MON40-3-2 soybean). Results. The results show that the kinetics of amplification curves evolve as a function of amplicon length, and smaller amplicons yield a higher level of fluorescence for the plateau phase. DNA degradation within the sample as well as the principles of fluorescence acquisition as a function of the chemistry used can also be factors. Conclusions. It was experimentally shown that the observed effect is linked to the suboptimal elongation temperature used in real-time PCR. Detection using SYBR® Green is less impacted as the loss of efficiency is partially compensated by the greater integration of SYBR® Green molecules in the larger fragments.

Published
2017

10. Mechanobiology of myeloid cells.

Author

Janssen, E. and Janssen, E.

Subjects
All institutes and research themes of the Radboud University Medical Center.
Published
2024

17. CMIP5 climate model analyses: Climate extremes in the United States

Author

Wuebbles, D, Meehl, G, Hayhoe, K, Karl, TR, Kunkel, K, Santer, B, Wehner, M, Colle, B, Fischer, EM, Fu, R, Goodman, A, Janssen, E, Kharin, V, Lee, H, Li, W, Long, LN, Olsen, SC, Pan, Z, Seth, A, Sheffield, J, and Sun, L

Subjects
Meteorology & Atmospheric Sciences, Astronomical and Space Sciences, Atmospheric Sciences, Physical Geography and Environmental Geoscience
Abstract

Given the increases in spatial resolution and other improvements in climate modeling capabilities over the last decade since the CMIP3 simulations were completed, CMIP5 provides a unique opportunity to assess scientific understanding of climate variability and change over a range of historical and future conditions. With participation from over 20 modeling groups and more than 40 global models, CMIP5 represents the latest and most ambitious coordinated international climate model intercomparison exercise to date. Observations dating back to 1900 show that the temperatures in the twenty-first century have the largest spatial extent of record breaking and much above normal mean monthly maximum and minimum temperatures. The 20-yr return value of the annual maximum or minimum daily temperature is one measure of changes in rare temperature extremes.

Published
2014

21. Overweight is associated to a better prognosis in metastatic colorectal cancer: A pooled analysis of FFCD trials

Author

Adenis, A., Alessio, A., Aouakli, A., Azzedine, A., Bedjaoui, A., Bidault, A., Blanchi, A., Botton, A., Cadier-Lagnes, A., Fatisse, A., Gagnaire, A., Gilbert, A., Gueye, A., Hollebecque, A., Lemaire, A., Mahamat, A., Marre, A., Patenotte, A., Rotenberg, A., Roussel, A., Thirot-Bidault, A., Votte, A., Weber, A., Zaanan, A., Dupont-Gossart, A.C., Villing, A.L., Queuniet, A.M., Coudert, B., Denis, B., Garcia, B., Lafforgue, B., Landi, B., Leduc, B., Linot, B., Paillot, B., Rhein, B., Winkfield, B., Barberis, C., Becht, C., Belletier, C., Berger, C., Bineau, C., Borel, C., Brezault, C., Buffet, C., Cornila, C., Couffon, C., De La Fouchardière, C., Giraud, C., Lecaille, C., Lepere, C., Lobry, C., Locher, C., Lombard-Bohas, C., Paoletti, C., Platini, C., Rebischung, C., Sarda, C., Vilain, C., Briac-Levaché, C., Auby, D., Baudet-Klepping, D., Bechade, D., Besson, D., Cleau, D., Festin, D., Gargot, D., Genet, D., Goldfain, D., Luet, D., Malka, D., Peré-Vergé, D., Pillon, D., Sevin-Robiche, D., Smith, D., Soubrane, D., Tougeron, D., Zylberait, D., Carola, E., Cuillerier, E., Dorval Danquechin, E., Echinard, E., Janssen, E., Maillard, E., Mitry, E., Norguet-Monnereau, E., Suc, E., Terrebonne, E., Zrihen, E., Pariente, E.A., Almaric, F., Audemar, F., Bonnetain, F., Desseigne, F., Dewaele, F., Di Fiore, F., Ghiringhelli, F., Husseini, F., Khemissa, F., Kikolski, F., Morvan, F., Petit-Laurent, F., Riot, F., Subtil, F., Zerouala-Boussaha, F., Caroli-Bosc, F.X., Boilleau-Jolimoy, G., Bordes, G., Cavaglione, G., Coulanjon, G., Deplanque, G., Gatineau-Saillant, G., Goujon, G., Medinger, G., Roquin, G., Brixi-Benmansour, H., Castanie, H., Lacroix, H., Maechel, H., Perrier, H., Salloum, H., Senellart, H., Baumgaertner, I., Cumin, I., Graber, I., Trouilloud, I., Boutin, J., Butel, J., Charneau, J., Cretin, J., Dauba, J., Deguiral, J., Egreteau, J., Ezenfis, J., Forestier, J., Goineau, J., Lacourt, J., Lafon, J., Martin, J., Meunier, J., Moreau, J., Provencal, J., Taieb, J., Thaury, J., Tuaillon, J., Vergniol, J., Villand, J., Vincent, J., Volet, J., Bachet, J.B., Barbare, J.C., Souquet, J.C., Grangé, J.D., Dor, J.F., Paitel, J.F., Jouve, J.L., Raoul, J.L., Cheula, J.M., Gornet, J.M., Sabate, J.M., Vantelon, J.M., Vaillant, J.N., Aucouturier, J.P., Barbieux, J.P., Herr, J.P., Lafargue, J.P., Lagasse, J.P., Latrive, J.P., Plachot, J.P., Ramain, J.P., Robin, J.P., Spano, J.P., Douillard, J.Y., Beerblock, K., Bouhier-Leporrier, K., Slimane Fawzi, K., Cany, L., Chone, L., Dahan, L., Gasnault, L., Rob, L., Stefani, L., Wander, L., Baconnier, M., Ben Abdelghani, M., Benchalal, M., Blasquez, M., Carreiro, M., Charbit, M., Combe, M., Duluc, M., Fayolle, M., Gignoux, M., Giovannini, M., Glikmanas, M., Mabro, M., Mignot, M., Mornet, M., Mousseau, M., Mozer, M., Pauwels, M., Pelletier, M., Porneuf, M., Ramdani, M., Schnee, M., Tissot, M., Zawadi, M., Clavero-Fabri, M.C., Gouttebel, M.C., Kaminsky, M.C., Galais, M.P., Abdelli, N., Barrière, N., Bouaria, N., Bouarioua, N., Delas, N., Gérardin, N., Hess-Laurens, N., Stremsdoerfer, N., Berthelet, O., Boulat, O., Capitain, O., Favre, O., Amoyal, P., Bergerault, P., Burtin, P., Cassan, P., Chatrenet, P., Chiappa, P., Claudé, P., Couzigou, P., Feydy, P., Follana, P., Geoffroy, P., Godeau, P., Hammel, P., Laplaige, P., Lehair, P., Martin, P., Novello, P., Pantioni, P., Pienkowski, P., Pouderoux, P., Prost, P., Ruszniewski, P., Souillac, P., Texereau, P., Thévenet, P., Haineaux, P.A., Benoit, R., Coriat, R., Lamy, R., Mackiewicz, R., Beorchia, S., Chaussade, S., Hiret, S., Jacquot, S., Lavau Denes, S., Montembault, S., Nahon, S., Nasca, S., Nguyen, S., Oddou-Lagraniere, S., Pesque-Penaud, S., Fratte, S.P., Chatellier, T., Mansourbakht, T., Morin, T., Walter, T., Boige, V., Bourgeois, V., Derias, V., Guérin-Meyer, V., Hautefeuille, V., Jestin Le Tallec, V., Lorgis, V., Quentin, V., Sebbagh, V., Veuillez, V., Adhoute, X., Coulaud, X., Becouarn, Y., Coscas, Y., Courouble, Y., Le Bricquir, Y., Molin, Y., Rinaldi, Y., Lam, Y.H., Ladhib, Z., Aparicio, Thomas, Ducreux, Michel, Faroux, Roger, Barbier, Emilie, Manfredi, Sylvain, Lecomte, Thierry, Etienne, Pierre-Luc, Bedenne, Laurent, Bennouna, Jaafar, Phelip, Jean-Marc, François, Eric, Michel, Pierre, Legoux, Jean-Louis, Gasmi, Mohamed, Breysacher, Gilles, Rougier, Philippe, De Gramont, Aimery, Lepage, Come, Bouché, Olivier, and Seitz, Jean-François

Published
2018
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24. Research as an event: a novel approach to promote patient-focused drug development

Author

Tsai JH, Janssen E, and Bridges JFP

Subjects
Patient perspectives, Decision making, Drug approval, Patient engagement, Patient organization, Patient preference, Medicine (General), R5-920
Abstract

Jui-Hua Tsai, Ellen Janssen, John FP Bridges Department of Health Policy and Management, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA Abstract: Patient groups are increasingly engaging in research to understand patients’ preferences and incorporate their perspectives into drug development and regulation. Several models of patient engagement have emerged, but there is little guidance on how to partner with patient groups to engage the disease community. Our group has been using an approach to engage patient groups that we call research as an event. Research as an event is a method for researchers to use a community-centered event to engage patients in their own environment at modest incremental cost. It is a pragmatic solution to address the challenges of engaging patients in research to minimize patients’ frustration, decrease the time burden, and limit the overall cost. The community, the event, and the research are the three components that constitute the research as an event framework. The community represents a disease-specific community. The event is a meeting of common interest for patients and other stakeholders, such as a patient advocacy conference. The research describes activities in engaging the community for the purpose of research. Research as an event follows a six-step approach. A case study is used to demonstrate the six steps followed by recommendations for future implementation. Keywords: patients’ perspectives, decision making, drug approval, patient engagement, patient organization, patients’ preference

Published
2018

26. Deep circulation changes during the last glacial inception: Rapid Southern Ocean response to insolation, preceding North Atlantic deep water changes

Author

Govin, A., Michel, E., Labeyrie, L., Landais, A., Capron, E., Waelbroeck, C., Janssen, E., Laboratoire des Sciences du Climat et de l'Environnement (LSCE), and Commissariat à l'énergie atomique et aux énergies alternatives (CEA)

Subjects
[SDU]Sciences of the Universe [physics]
Abstract

International audience; Deep water circulation changes during the initiation of the last glacial period, and its role in the global cooling are still poorly known. We compare high-resolution oxygen and carbon isotope composition records of planktic and benthic foraminifera from Southern Ocean and North Atlantic cores for the 130-100 ka period in order to establish the deep circulation changes in both area, in relationship to surface hydrology and global climatology. A common chronostratigraphic framework has been defined between marine cores from the northern and southern latitudes over that period, assuming that temperature changes occurred simultaneaously in the surface ocean and over the nearby ice cap. Thus North Atlantic and Southern Ocean sea surface temperature records have been correlated to isotopic ice core records of NGRIP and EPICA Dome C respectively. Sea surface temperatures decrease at about the same time (122ka) in both the northern Atlantic and the Southern Ocean. About 3ka after, an expansion of a poorly ventilated Antarctic Bottom water is observed in the Southern Ocean while no change occurs in the North Atlantic deep circulation. Height thousand years more are needed to observed a shoaling of the North Atlantic deep waters (NADW). We propose that the Southern Ocean respond rapidly to orbital variations: a spatial and/or temporal increase in sea-ice extent might follow the decrease in obliquity. This positive retroaction through albedo drive a decrease in sea surface temperature and a northward movement of the water fronts. A greater seasonal extent of sea-ice will lead to a less ventilated Antarctic Bottom Water (AABW). On the opposite a decrease of sea surface temperatures in the North Atlantic is not enough to produce a change in the North Atlantic deep water formation. Only when Ice sheet have build up sufficiently, can they induce a shoaling of NADW through a change in atmospheric circulation pattern and a decrease in sea surface salinity. The influence of AABW reach the North Atlantic simultaneously to the shoaling of NADW.

Published
2023

27. Blood-brain barrier leakage hotspots collocating with brain lesions due to sporadic and monogenic small vessel disease

Author

Rudilosso, S., Stringer, M.S., Thrippleton, M., Chappell, F., Blair, G.W., Garcia, D.J., Doubal, F., Hamilton, I., Janssen, E., Kopczak, A., Ingrisch, M., Kerkhofs, D., Backes, W.H., Staals, J., Duering, M., Dichgans, M., Wardlaw, J.M., MUMC+: MA AIOS Neurologie (9), RS: Carim - B05 Cerebral small vessel disease, Klinische Neurowetenschappen, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Beeldvorming, MUMC+: DA BV Klinisch Fysicus (9), and MUMC+: MA Med Staf Spec Neurologie (9)

Subjects
cerebral small vessel disease, ABNORMALITIES, dynamic-contrast enhanced imaging, white matter hyperintensities, WHITE-MATTER LESIONS, lacunar, STROKE, Blood-brain barrier
Abstract

Blood-brain barrier (BBB) is known to be impaired in cerebral small vessel disease (SVD), and is measurable by dynamic-contrast enhancement (DCE)-MRI. In a cohort of 69 patients (42 sporadic, 27 monogenic SVD), who underwent 3T MRI, including DCE and cerebrovascular reactivity (CVR) sequences, we assessed the relationship of BBB-leakage hotspots to SVD lesions (lacunes, white matter hyperintensities (WMH), and microbleeds). We defined as hotspots the regions with permeability surface area product highest decile on DCE-derived maps within the white matter. We assessed factors associated with the presence and number of hotspots corresponding to SVD lesions in multivariable regression models adjusted for age, WMH volume, number of lacunes, and SVD type. We identified hotspots at lacune edges in 29/46 (63%) patients with lacunes, within WMH in 26/60 (43%) and at the WMH edges in 34/60 (57%) patients with WMH, and microbleed edges in 4/11 (36%) patients with microbleeds. In adjusted analysis, lower WMH-CVR was associated with presence and number of hotspots at lacune edges, and higher WMH volume with hotspots within WMH and at WMH edges, independently of the SVD type. In conclusion, SVD lesions frequently collocate with high BBB-leakage in patients with sporadic and monogenic forms of SVD.

Published
2023

28. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author

Denomme-Pichon A. -S., Bruel A. -L., Duffourd Y., Safraou H., Thauvin-Robinet C., Tran Mau-Them F., Philippe C., Vitobello A., Jean-Marcais N., Moutton S., Thevenon J., Faivre L., Matalonga L., de Boer E., Gilissen C., Hoischen A., Kleefstra T., Pfundt R., de Vries B. B. A., Willemsen M. H., Vissers L. E. L. M., Jackson A., Banka S., Clayton-Smith J., Benetti E., Fallerini C., Renieri A., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Ellwanger K., Graessner H., Haack T. B., Zurek B., Havlovicova M., Macek M., Ryba L., Schwarz M., Votypka P., Lopez-Martin E., Posada M., Mencarelli M. A., Rooryck C., Trimouille A., Verloes A., Abbott K. M., Kerstjens M., Martin E. L., Maystadt I., Morleo M., Nigro V., Pinelli M., Riess O., Agathe J. -M. D. S., Santen G. W. E., Thauvin C., Torella A., Vissers L., Zguro K., Boer E. D., Cohen E., Danis D., Gao F., Horvath R., Johari M., Johanson L., Li S., Morsy H., Nelson I., Paramonov I., te Paske I. B. A. W., Robinson P., Savarese M., Steyaert W., Topf A., van der Velde J. K., Vandrovcova J., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Schule R., Xu J., Kessler C., Wayand M., Synofzik M., Wilke C., Traschutz A., Schols L., Hengel H., Lerche H., Kegele J., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., 't Hoen P. A. C., Sablauskas K., de Voer R. M., Kamsteeg E. -J., van de Warrenburg B., van Os N., Paske I. T., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Maddi V., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Manera J. D., Hambleton S., Engelhardt K., Alexander E., Peyron C., Pelissier A., Beltran S., Gut I. G., Laurie S., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Fernandez-Callejo M., Hernandez C., Pico D., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Lagorce D., Hongnat O., Chahdil M., Lebreton E., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Ben Yaou R., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Liskova P., Dolezalova P., Parkinson H., Keane T., Freeberg M., Thomas C., Spalding D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Efthymiou S., Cali E., Magrinelli F., Sisodiya S. M., Rohrer J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., de Vries G., De Winter J., Beijer D., de Jonghe P., Van de Vondel L., De Ridder W., Weckhuysen S., Mutarelli M., Varavallo A., Banfi S., Musacchia F., Piluso G., Ferlini A., Selvatici R., Gualandi F., Bigoni S., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Ruvolo D., Kerstjens Frederikse W. S., Zonneveld-Huijssoon E., Roelofs-Prins D., van Gijn M., Kohler S., Metcalfe A., Drunat S., Heron D., Mignot C., Keren B., Lacombe D., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Cilio M. -R., Carpancea E., Depondt C., Lederer D., Sznajer Y., Duerinckx S., Mary S., Macaya A., Cazurro-Gutierrez A., Perez-Duenas B., Munell F., Jarava C. F., Maso L. B., Marce-Grau A., Colobran R., Hackman P., Udd B., Hemelsoet D., Dermaut B., Schuermans N., Poppe B., Verdin H., Osorio A. N., Depienne C., Roos A., Cordts I., Deschauer M., Striano P., Zara F., Riva A., Iacomino M., Uva P., Scala M., Scudieri P., Basak A. N., Claeys K., Boztug K., Haimel M., W. E G., Ruivenkamp C. A. L., Natera de Benito D., Thompson R., Polavarapu K., Grimbacher B., Zaganas I., Kokosali E., Lambros M., Evangeliou A., Spilioti M., Kapaki E., Bourbouli M., Balicza P., Molnar M. J., De la Paz M. P., Sanchez E. B., Delgado B. M., Alonso Garcia de la Rosa F. J., Schrock E., Rump A., Mei D., Vetro A., Balestrini S., Guerrini R., Chinnery P. F., Ratnaike T., Schon K., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., May P., Beeson D., Cossins J., Furini S., Afenjar A., Goldenberg A., Masurel A., Phan A., Dieux-Coeslier A., Fargeot A., Guerrot A. -M., Toutain A., Molin A., Sorlin A., Putoux A., Jouret B., Laudier B., Demeer B., Doray B., Bonniaud B., Isidor B., Gilbert-Dussardier B., Leheup B., Reversade B., Paul C., Vincent-Delorme C., Neiva C., Poirsier C., Quelin C., Chiaverini C., Coubes C., Francannet C., Colson C., Desplantes C., Wells C., Goizet C., Sanlaville D., Amram D., Lehalle D., Genevieve D., Gaillard D., Zivi E., Sarrazin E., Steichen E., Schaefer E., Lacaze E., Jacquemin E., Bongers E., Kilic E., Colin E., Giuliano F., Prieur F., Laffargue F., Morice-Picard F., Petit F., Cartault F., Feillet F., Baujat G., Morin G., Diene G., Journel H., Perthus I., Lespinasse J., Alessandri J. -L., Amiel J., Martinovic J., Delanne J., Albuisson J., Lambert L., Perrin L., Ousager L. B., Van Maldergem L., Pinson L., Ruaud L., Samimi M., Bournez M., Bonnet-Dupeyron M. N., Vincent M., Jacquemont M. -L., Cordier-Alex M. -P., Gerard-Blanluet M., Willems M., Spodenkiewicz M., Doco-Fenzy M., Rossi M., Renaud M., Fradin M., Mathieu M., Holder-Espinasse M. H., Houcinat N., Hanna N., Leperrier N., Chassaing N., Philip N., Boute O., Van Kien P. K., Parent P., Bitoun P., Sarda P., Vabres P., Jouk P. -S., Touraine R., El Chehadeh S., Whalen S., Marlin S., Passemard S., Grotto S., Bellanger S. A., Blesson S., Nambot S., Naudion S., Lyonnet S., Odent S., Attie-Bitach T., Busa T., Drouin-Garraud V., Layet V., Bizaoui V., Cusin V., Capri Y., Alembik Y., Unión Europea. Comisión Europea. H2020, Unión Europea. Comisión Europea. 7 Programa Marco, Instituto de Salud Carlos III, Instituto Nacional de Bioinformatica (España), Ministry of Health (República Checa), Ministry of Education, Youth and Sports (República Checa), Denomme-Pichon, A. -S., Bruel, A. -L., Duffourd, Y., Safraou, H., Thauvin-Robinet, C., Tran Mau-Them, F., Philippe, C., Vitobello, A., Jean-Marcais, N., Moutton, S., Thevenon, J., Faivre, L., Matalonga, L., de Boer, E., Gilissen, C., Hoischen, A., Kleefstra, T., Pfundt, R., de Vries, B. B. A., Willemsen, M. H., Vissers, L. E. L. M., Jackson, A., Banka, S., Clayton-Smith, J., Benetti, E., Fallerini, C., Renieri, A., Ciolfi, A., Dallapiccola, B., Pizzi, S., Radio, F. C., Tartaglia, M., Ellwanger, K., Graessner, H., Haack, T. B., Zurek, B., Havlovicova, M., Macek, M., Ryba, L., Schwarz, M., Votypka, P., Lopez-Martin, E., Posada, M., Mencarelli, M. A., Rooryck, C., Trimouille, A., Verloes, A., Abbott, K. M., Kerstjens, M., Martin, E. L., Maystadt, I., Morleo, M., Nigro, V., Pinelli, M., Riess, O., Agathe, J. -M. D. S., Santen, G. W. E., Thauvin, C., Torella, A., Vissers, L., Zguro, K., Boer, E. D., Cohen, E., Danis, D., Gao, F., Horvath, R., Johari, M., Johanson, L., Li, S., Morsy, H., Nelson, I., Paramonov, I., te Paske, I. B. A. W., Robinson, P., Savarese, M., Steyaert, W., Topf, A., van der Velde, J. K., Vandrovcova, J., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Schule, R., Xu, J., Kessler, C., Wayand, M., Synofzik, M., Wilke, C., Traschutz, A., Schols, L., Hengel, H., Lerche, H., Kegele, J., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., 't Hoen, P. A. C., Sablauskas, K., de Voer, R. M., Kamsteeg, E. -J., van de Warrenburg, B., van Os, N., Paske, I. T., Janssen, E., Steehouwer, M., Yaldiz, B., Brookes, A. J., Veal, C., Gibson, S., Maddi, V., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Straub, V., Bettolo, C. M., Manera, J. D., Hambleton, S., Engelhardt, K., Alexander, E., Peyron, C., Pelissier, A., Beltran, S., Gut, I. G., Laurie, S., Piscia, D., Papakonstantinou, A., Bullich, G., Corvo, A., Fernandez-Callejo, M., Hernandez, C., Pico, D., Lochmuller, H., Gumus, G., Bros-Facer, V., Rath, A., Hanauer, M., Lagorce, D., Hongnat, O., Chahdil, M., Lebreton, E., Stevanin, G., Durr, A., Davoine, C. -S., Guillot-Noel, L., Heinzmann, A., Coarelli, G., Bonne, G., Evangelista, T., Allamand, V., Ben Yaou, R., Metay, C., Eymard, B., Atalaia, A., Stojkovic, T., Turnovec, M., Thomasova, D., Kremlikova, R. P., Frankova, V., Liskova, P., Dolezalova, P., Parkinson, H., Keane, T., Freeberg, M., Thomas, C., Spalding, D., Robert, G., Costa, A., Patch, C., Hanna, M., Houlden, H., Reilly, M., Efthymiou, S., Cali, E., Magrinelli, F., Sisodiya, S. M., Rohrer, J., Muntoni, F., Zaharieva, I., Sarkozy, A., Timmerman, V., Baets, J., de Vries, G., De Winter, J., Beijer, D., de Jonghe, P., Van de Vondel, L., De Ridder, W., Weckhuysen, S., Mutarelli, M., Varavallo, A., Banfi, S., Musacchia, F., Piluso, G., Ferlini, A., Selvatici, R., Gualandi, F., Bigoni, S., Rossi, R., Neri, M., Aretz, S., Spier, I., Sommer, A. K., Peters, S., Oliveira, C., Pelaez, J. G., Matos, A. R., Jose, C. S., Ferreira, M., Gullo, I., Fernandes, S., Garrido, L., Ferreira, P., Carneiro, F., Swertz, M. A., Johansson, L., van der Vries, G., Neerincx, P. B., Ruvolo, D., Kerstjens Frederikse, W. S., Zonneveld-Huijssoon, E., Roelofs-Prins, D., van Gijn, M., Kohler, S., Metcalfe, A., Drunat, S., Heron, D., Mignot, C., Keren, B., Lacombe, D., Capella, G., Valle, L., Holinski-Feder, E., Laner, A., Steinke-Lange, V., Cilio, M. -R., Carpancea, E., Depondt, C., Lederer, D., Sznajer, Y., Duerinckx, S., Mary, S., Macaya, A., Cazurro-Gutierrez, A., Perez-Duenas, B., Munell, F., Jarava, C. F., Maso, L. B., Marce-Grau, A., Colobran, R., Hackman, P., Udd, B., Hemelsoet, D., Dermaut, B., Schuermans, N., Poppe, B., Verdin, H., Osorio, A. N., Depienne, C., Roos, A., Cordts, I., Deschauer, M., Striano, P., Zara, F., Riva, A., Iacomino, M., Uva, P., Scala, M., Scudieri, P., Basak, A. N., Claeys, K., Boztug, K., Haimel, M., W. E, G., Ruivenkamp, C. A. L., Natera de Benito, D., Thompson, R., Polavarapu, K., Grimbacher, B., Zaganas, I., Kokosali, E., Lambros, M., Evangeliou, A., Spilioti, M., Kapaki, E., Bourbouli, M., Balicza, P., Molnar, M. J., De la Paz, M. P., Sanchez, E. B., Delgado, B. M., Alonso Garcia de la Rosa, F. J., Schrock, E., Rump, A., Mei, D., Vetro, A., Balestrini, S., Guerrini, R., Chinnery, P. F., Ratnaike, T., Schon, K., Maver, A., Peterlin, B., Munchau, A., Lohmann, K., Herzog, R., Pauly, M., May, P., Beeson, D., Cossins, J., Furini, S., Afenjar, A., Goldenberg, A., Masurel, A., Phan, A., Dieux-Coeslier, A., Fargeot, A., Guerrot, A. -M., Toutain, A., Molin, A., Sorlin, A., Putoux, A., Jouret, B., Laudier, B., Demeer, B., Doray, B., Bonniaud, B., Isidor, B., Gilbert-Dussardier, B., Leheup, B., Reversade, B., Paul, C., Vincent-Delorme, C., Neiva, C., Poirsier, C., Quelin, C., Chiaverini, C., Coubes, C., Francannet, C., Colson, C., Desplantes, C., Wells, C., Goizet, C., Sanlaville, D., Amram, D., Lehalle, D., Genevieve, D., Gaillard, D., Zivi, E., Sarrazin, E., Steichen, E., Schaefer, E., Lacaze, E., Jacquemin, E., Bongers, E., Kilic, E., Colin, E., Giuliano, F., Prieur, F., Laffargue, F., Morice-Picard, F., Petit, F., Cartault, F., Feillet, F., Baujat, G., Morin, G., Diene, G., Journel, H., Perthus, I., Lespinasse, J., Alessandri, J. -L., Amiel, J., Martinovic, J., Delanne, J., Albuisson, J., Lambert, L., Perrin, L., Ousager, L. B., Van Maldergem, L., Pinson, L., Ruaud, L., Samimi, M., Bournez, M., Bonnet-Dupeyron, M. N., Vincent, M., Jacquemont, M. -L., Cordier-Alex, M. -P., Gerard-Blanluet, M., Willems, M., Spodenkiewicz, M., Doco-Fenzy, M., Rossi, M., Renaud, M., Fradin, M., Mathieu, M., Holder-Espinasse, M. H., Houcinat, N., Hanna, N., Leperrier, N., Chassaing, N., Philip, N., Boute, O., Van Kien, P. K., Parent, P., Bitoun, P., Sarda, P., Vabres, P., Jouk, P. -S., Touraine, R., El Chehadeh, S., Whalen, S., Marlin, S., Passemard, S., Grotto, S., Bellanger, S. A., Blesson, S., Nambot, S., Naudion, S., Lyonnet, S., Odent, S., Attie-Bitach, T., Busa, T., Drouin-Garraud, V., Layet, V., Bizaoui, V., Cusin, V., Capri, Y., Alembik, Y., and Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]

Subjects
Exome reanalysis, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine], Developmental disorder, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Biology and Life Sciences, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], ClinVar, Rare diseases, All institutes and research themes of the Radboud University Medical Center, Medicine and Health Sciences, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], Multidisciplinary, general & others [D99] [Human health sciences], Exome reanalysi, Genetics (clinical)
Abstract

Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the "ClinVar low-hanging fruit" reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods: Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results: We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion: The "ClinVar low-hanging fruit" analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock. The Solve-RD project has received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement number 779257. Data were analyzed using the RD-Connect Genome-Phenome Analysis Platform, which received funding from the EU projects RD-Connect, Solve-RD, and European Joint Programme on Rare Diseases (grant numbers FP7 305444, H2020 779257, H2020 825575), Instituto de Salud Carlos III (grant numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática), and ELIXIR Implementation Studies. The collaborations in this study were facilitated by the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies, one of the 24 European Reference Networks approved by the European Reference Network Board of Member States, cofunded by the European Commission. This project was supported by the Czech Ministry of Health (number 00064203) and by the Czech Ministry of Education, Youth and Sports (number - LM2018132) to M.M. Sí

Published
2023

29. Cyanobacteria: Extreme Environments and Toxic Metabolites

Author

Pittino, F, Oliveira, J, De Almeida Torres, M, Fink, S, Janssen, E, Scheidegger, C, Pittino F., Oliveira J., De Almeida Torres M., Fink S., Janssen E. M. L., Scheidegger C., Pittino, F, Oliveira, J, De Almeida Torres, M, Fink, S, Janssen, E, Scheidegger, C, Pittino F., Oliveira J., De Almeida Torres M., Fink S., Janssen E. M. L., and Scheidegger C.

Abstract

Cyanobacteria, also known as blue-green algae, are photosynthetic bacteria that can colonize different habitats, including extreme ones. They are of great interest to the scientific community, especially because of their ability to produce cyanotoxins: toxic secondary metabolites potentially harmful to organisms especially when released to surface waters.

Published
2022

30. Outcome measures in aneurysmal subarachnoid hemorrhage: from a clinician-directed approach towards a patient-centered approach

Author

Bartels, R.H.M.A., Wees, P.J. van der, Boogaarts, H.D., Abma, I.L., Nobels-Janssen, E., Bartels, R.H.M.A., Wees, P.J. van der, Boogaarts, H.D., Abma, I.L., and Nobels-Janssen, E.

Abstract

Radboud University, 06 maart 2023, Promotores : Bartels, R.H.M.A., Wees, P.J. van der Co-promotores : Boogaarts, H.D., Abma, I.L., Contains fulltext : 289570.pdf (Publisher’s version ) (Closed access)

Published
2023

31. The effects of induced blood pressure increase and decrease on cerebral small vessels: The Hyperintense study

Author

Janssen, E., Telgte, A. ter, Verburgt, E., Jong, J.J.A. de, Marques, J.P., Kessels, R.P.C., Backes, W.H., Maas, M.C., Meijer, F.J.A., Deinum, J., Riksen, N.P., Tuladhar, A.M., Leeuw, H.F. de, Janssen, E., Telgte, A. ter, Verburgt, E., Jong, J.J.A. de, Marques, J.P., Kessels, R.P.C., Backes, W.H., Maas, M.C., Meijer, F.J.A., Deinum, J., Riksen, N.P., Tuladhar, A.M., and Leeuw, H.F. de

Abstract

Item does not contain fulltext

Published
2023

33. Prediction model for hypertension in first decade after pre-eclampsia in initially normotensive women

Author

Hooijschuur, M. C.E., Janssen, E. B.N.J., Mulder, E. G., Kroon, A. A., Meijers, J. M.J., Brugts, J. J., Van Bussel, B. C.T., Van Kuijk, S. M.J., Spaanderman, M. E.A., Ghossein-Doha, C., Hooijschuur, M. C.E., Janssen, E. B.N.J., Mulder, E. G., Kroon, A. A., Meijers, J. M.J., Brugts, J. J., Van Bussel, B. C.T., Van Kuijk, S. M.J., Spaanderman, M. E.A., and Ghossein-Doha, C.

Abstract

Objective: To develop a prediction model for the development of hypertension in the decade following pre-eclampsia in women who were normotensive shortly after pregnancy. Methods: This was a longitudinal cohort study of formerly pre-eclamptic women attending a university hospital in The Netherlands between 1996 and 2019. We developed a prediction model for incident hypertension using multivariable logistic regression analysis. The model was validated internally using bootstrapping techniques. Results: Of 259 women, 185 (71%) were normotensive at the first cardiovascular assessment, at a median of 10 (interquartile range (IQR), 6–24) months after a pre-eclamptic pregnancy, of whom 49 (26%) had developed hypertension by the second visit, at a median of 11 (IQR, 6–14) years postpartum. The prediction model, based on birth-weight centile, mean arterial pressure, total cholesterol, left ventricular mass index and left ventricular ejection fraction, had good-to-excellent discriminative ability, with an area under the receiver-operating-characteristics curve (AUC) of 0.82 (95% CI, 0.75–0.89) and an optimism-corrected AUC of 0.80. The sensitivity and specificity of our model to predict hypertension were 98% and 34%, respectively, and positive and negative predictive values were 35% and 98%, respectively. Conclusions: Based on five variables, we developed a good-to-excellent predictive tool to identify incident hypertension following pre-eclampsia in women who were normotensive shortly after pregnancy. After external validation, this model could have considerable clinical utility in tackling the cardiovascular legacy of pre-eclampsia.

Published
2023

36. Validity of the modified Rankin Scale in patients with aneurysmal subarachnoid hemorrhage: a randomized study

Author

Nobels-Janssen, E, primary, Postma, E N, additional, Abma, I L, additional, Dijk, J M C van, additional, de Ridder, I R, additional, Schenck, H, additional, Moojen, W A, additional, Hertog, M H den, additional, Nanda, D, additional, Potgieser, A R E, additional, Coert, B A, additional, Verhagen, W I M, additional, Bartels, R H M A, additional, Wees, P J van der, additional, Verbaan, D, additional, and Boogaarts, H D, additional

Published
2022
Full Text
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37. Hypothesis Master Thesis

Author

Janssen, E. (EsméE)

Subjects
Communication, Social and Behavioral Sciences
Abstract

This registration shares the hypotheses that will be examined in this master thesis about conspiracy thinking.

Published
2023
Full Text
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39. The underrepresentation of females in antihypertensive medication over the years: a scoping review

Author

Mohseni-Alsalhi, Z, primary, Vesseur, M A M, additional, Laven, S A J S, additional, Vaes, E W P, additional, Wilmes, N, additional, Meijs, D A M, additional, Van Luik, E M, additional, Dikovec, C J R, additional, Wiesenberg, J, additional, Almutairi, M F, additional, Janssen, E B N J, additional, De Haas, S, additional, Spaanderman, M E A, additional, and Ghossein-Doha, C, additional

Published
2022
Full Text
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42. Inter-method reliability and validity of the modified Rankin Scale in patients with aneurysmal subarachnoid hemorrhage

Author

Nobels-Janssen, E., Postma, E., Abma, I., Van Dijk, M., Haeren, R., Schenck, H., Moojen, W., Den Hertog, H., Nanda, D., Potgieser, A., Coert, B., Verhagen, W., Bartels, R., Van der Wees, P., Verbaan, D., Boogaarts, J., RS: MHeNs - R3 - Neuroscience, MUMC+: MA Med Staf Spec Neurochirurgie (9), Neurochirurgie, MUMC+: MA AIOS Neurochirurgie (9), and MUMC+: VPK Flexteam (9)

Published
2022

44. POS0591 TREATMENTS TO PREVENT RHEUMATOID ARTHRITIS IN FIRST DEGREE RELATIVES: DEMOGRAPHIC AND PSYCHOLOGICAL PREDICTORS OF RISK TOLERANCES

Author

Simons, G., primary, Janssen, E., additional, Veldwijk, J., additional, Disantostefano, R., additional, Englbrecht, M., additional, Radawski, C., additional, Valor, L., additional, Humphreys, J., additional, Bruce, I. N., additional, Hauber, B., additional, Raza, K., additional, and Falahee, M., additional

Published
2022
Full Text
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45. A Model for Pre-Pregnancy Prediction of Small for Gestational Age Infancy in a High-Risk Population

Author

Jorissen, L., Mulder, E., Janssen, E., Al-Nasiry, S., Ghossein-Doha, C., Van Kuijk, S., Spaanderman, M., RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, Obstetrie & Gynaecologie, RS: Carim - H01 Clinical atrial fibrillation, Cardiologie, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: MA Medische Staf Obstetrie Gynaecologie (9), MUMC+: MA Med Staf Artsass Interne Geneeskunde (9), RS: CAPHRI - R2 - Creating Value-Based Health Care, Epidemiologie, and MUMC+: KIO Kemta (9)

Published
2022

47. The Hyperintense study: Assessing the effects of induced blood pressure increase and decrease on MRI markers of cerebral small vessel disease: Study rationale and protocol

Author

Janssen, E., Telgte, A. ter, Verburgt, E., Jong, J.J.A. de, Marques, J.P., Kessels, R.P.C., Backes, W.H., Maas, M.C., Meijer, F.J.A., Deinum, J., Riksen, N.P., Tuladhar, A.M., Leeuw, H.F. de, Janssen, E., Telgte, A. ter, Verburgt, E., Jong, J.J.A. de, Marques, J.P., Kessels, R.P.C., Backes, W.H., Maas, M.C., Meijer, F.J.A., Deinum, J., Riksen, N.P., Tuladhar, A.M., and Leeuw, H.F. de

Abstract

12 mei 2022, Item does not contain fulltext, Background: Neuroimaging markers of cerebral small vessel disease (SVD) are common in older individuals, but the pathophysiological mechanisms causing these lesions remain poorly understood. Although hypertension is a major risk factor for SVD, the direct causal effects of increased blood pressure are unknown. The Hyperintense study is designed to examine cerebrovascular and structural abnormalities, possibly preceding SVD, in young adults with hypertension. These patients undergo a diagnostic work-up that requires patients to temporarily discontinue their antihypertensive agents, often leading to an increase in blood pressure followed by a decrease once effective medication is restarted. This allows examination of the effects of blood pressure increase and decrease on the cerebral small vessels. Methods: Hyperintense is a prospective observational cohort study in 50 hypertensive adults (18–55 years) who will temporarily discontinue antihypertensive medication for diagnostic purposes. MRI and clinical data is collected at four timepoints: before medication withdrawal (baseline), once antihypertensives are largely or completely withdrawn (T = 1), when patients have restarted medication (T = 2) and reached target blood pressure and 1 year later (T = 3). The 3T MRI protocol includes conventional structural sequences and advanced techniques to assess various aspects of microvascular integrity, including blood-brain barrier function using Dynamic Contrast Enhanced MRI, white matter integrity, and microperfusion. Clinical assessments include motor and cognitive examinations and blood sampling.Discussion: The Hyperintense study will improve the understanding of the pathophysiological mechanisms following hypertension that may cause SVD. This knowledge can ultimately help to identify new targets for treatment of SVD, aimed at prevention or limiting disease progression.

Published
2022

48. Inter-method reliability of the modified Rankin Scale in patients with subarachnoid hemorrhage

Author

Janssen, E., Postma, E.N., Abma, I.L., Dijk, J.M.C. van, Haeren, R., Schenck, H., Moojen, W.A., Hertog, M.H. den, Nanda, D., Potgieser, A.R., Coert, B.A., Verhagen, W.I.M., Bartels, R.H.M.A., Wees, P.J. van der, Verbaan, D., Boogaarts, H.D., Janssen, E., Postma, E.N., Abma, I.L., Dijk, J.M.C. van, Haeren, R., Schenck, H., Moojen, W.A., Hertog, M.H. den, Nanda, D., Potgieser, A.R., Coert, B.A., Verhagen, W.I.M., Bartels, R.H.M.A., Wees, P.J. van der, Verbaan, D., and Boogaarts, H.D.

Abstract

Item does not contain fulltext, BACKGROUND AND OBJECTIVES: The modified Rankin Scale (mRS) is one of the most frequently used outcome measures in trials in patients with an aneurysmal subarachnoid hemorrhage (aSAH). The assessment method of the mRS is often not clearly described in trials, while the method used might influence the mRS score. The aim of this study is to evaluate the inter-method reliability of different assessment methods of the mRS. METHODS: This is a prospective, randomized, multicenter study with follow-up at 6 weeks and 6 months. Patients aged ≥ 18 years with aSAH were randomized to either a structured interview or a self-assessment of the mRS. Patients were seen by a physician who assigned an mRS score, followed by either the structured interview or the self-assessment. Inter-method reliability was assessed with the quadratic weighted kappa score and percentage of agreement. Assessment of feasibility of the self-assessment was done by a feasibility questionnaire. RESULTS: The quadratic weighted kappa was 0.60 between the assessment of the physician and structured interview and 0.56 between assessment of the physician and self-assessment. Percentage agreement was, respectively, 50.8 and 19.6%. The assessment of the mRS through a structured interview and by self-assessment resulted in systematically higher mRS scores than the mRS scored by the physician. Self-assessment of the mRS was proven feasible. DISCUSSION: The mRS scores obtained with different assessment methods differ significantly. The agreement between the scores is low, although the reliability between the assessment methods is good. This should be considered when using the mRS in clinical trials. TRIAL REGISTRATION: www.trialregister.nl ; Unique identifier: NL7859.

Published
2022

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