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1. CNS-3 status remains an independent adverse prognosis factor in children with acute lymphoblastic leukemia (ALL) treated without cranial irradiation: Results of EORTC Children Leukemia Group study 58951

Author

Sirvent, N., Suciu, S., De Moerloose, B., Ferster, A., Mazingue, F., Plat, G., Yakouben, K., Uyttebroeck, A., Paillard, C., Costa, V., Simon, P., Pluchart, C., Poirée, M., Minckes, O., Millot, F., Freycon, C., Maes, P., Hoyoux, C., Cavé, H., Rohrlich, P., Bertrand, Y., and Benoit, Y.

Published
2021
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4. Correction: Standardisation and consensus guidelines for minimal residual disease assessment in Philadelphia-positive acute lymphoblastic leukemia (Ph+ALL) by real-time quantitative reverse transcriptase PCR of e1a2 BCR-ABL1 (Leukemia, (2019), 33, 8, (1910-1922), 10.1038/s41375-019-0413-0)

Author

Pfeifer H., Cazzaniga G., van der Velden V. H. J., Cayuela J. M., Schafer B., Spinelli O., Akiki S., Avigad S., Bendit I., Borg K., Cave H., Elia L., Reshmi S. C., Gerrard G., Hayette S., Hermanson M., Juh A., Jurcek T., Chillon M. C., Homburg C., Martinelli G., Kairisto V., Lange T., Lion T., Mueller M. C., Pane F., Rai L., Damm-Welk C., Sacha T., Schnittger S., Touloumenidou T., Valerhaugen H., Vandenberghe P., Zuna J., Serve H., Herrmann E., Markovic S., van Dongen J. J. M., Ottmann O. G., Pfeifer, H., Cazzaniga, G., van der Velden, V. H. J., Cayuela, J. M., Schafer, B., Spinelli, O., Akiki, S., Avigad, S., Bendit, I., Borg, K., Cave, H., Elia, L., Reshmi, S. C., Gerrard, G., Hayette, S., Hermanson, M., Juh, A., Jurcek, T., Chillon, M. C., Homburg, C., Martinelli, G., Kairisto, V., Lange, T., Lion, T., Mueller, M. C., Pane, F., Rai, L., Damm-Welk, C., Sacha, T., Schnittger, S., Touloumenidou, T., Valerhaugen, H., Vandenberghe, P., Zuna, J., Serve, H., Herrmann, E., Markovic, S., van Dongen, J. J. M., and Ottmann, O. G.

Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2020

9. Standardisation and consensus guidelines for minimal residual disease assessment in Philadelphia-positive acute lymphoblastic leukemia (Ph+ALL) by real-time quantitative reverse transcriptase PCR of e1a2 BCR-ABL1 (vol 32, pg 345, 2019)

Author

Pfeifer, H., Cazzaniga, G., Velden, V.H.J. van der, Cayuela, J.M., Schafer, B., Spinelli, O., Akiki, S., Avigad, S., Bendit, I., Borg, K., Cave, H., Elia, L., Reshmi, S.C., Gerrard, G., Hayette, S., Hermanson, M., Juh, A., Jurcek, T., Chillon, M.C., Homburg, C., Martinelli, G., Kairisto, V., Lange, T., Lion, T., Mueller, M.C., Pane, F., Rai, L., Damm-Welk, C., Sacha, T., Schnittger, S., Touloumenidou, T., Valerhaugen, H., Vandenberghe, P., Zuna, J., Serve, H., Herrmann, E., Markovic, S., Dongen, J.J.M. van, and Ottmann, O.G.

Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2020

11. Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study

Author

Bowman P., Sulen A., Barbetti F., Beltrand J., Svalastoga P., Codner E., Tessmann E. H., Juliusson P. B., Skrivarhaug T., Pearson E. R., Flanagan S. E., Babiker T., Thomas N. J., Shepherd M. H., Ellard S., Klimes I., Szopa M., Polak M., Iafusco D., Hattersley A. T., Njolstad P. R., Aisenberg J., Akkurt I., Abdul-Latif H., Al-Abdullah A., Barak L., Van Den Bergh J., Bertrand A. -M., Bizzarri C., Bonfanti R., Bruel H., Burrows A., Cadario F., Cameron F. J., Carson D., Cartigny M., Cauvin V., Cave H., Chakera A., Chetan R., Chiari G., Couch B., Coutant R., Cummings E., Dankovcikova A., Davis L., Deiss D., Delvecchio M., Faleschini E., Fauret A. -L., Finn R., Ford T., Franco E. D., Gallen B. D., Gasperikova D., Guntamukkala P., Hakeem V., Hasegawa S., Hathout E. H., Heffernan E., Hill D., Ho J., Hoarau M., Holl R., Hoddinott R., Houghton J., Howard N., Hughes N., Hunter I., Hogasen A. K., Kuulasmaa H., Ioacara S., Iotova V., Irgens H., Jaap A., Jones K., Kapellen T., Kaufman E., Klinge A., Klupa T., Krishnaswamy R., Lafferty T., LeGault L., Lambert P., Malecki M. T., Malievsky O., Mathew R., Mathews F., McVie R., Menzel U., Metz C., Meulen J. V. D., Modgil G., Mul D., Muther S., Nuboer R., O'Connell S. M., O'Riordan S., Palko M., Patel K. A., Pesavento R., Piccinno E., Pillai J. K., Pruhova S., Punthakee Z., Rabbone I., Raile K., Rincon M., Rose D., Sanchez J., Sandereson S., Saxena V., Schebek M., Schmidt D., Shehadeh N., Shiels J. P. H., Silva J. M. C. L., Stanik J., Tinklin T., Tjora E., Tumini S., Tuomi T., Uehara A., Velde R. V. D., Vermeulen G., Visser U., Voorhoeve P., Walker J., Weill J., Weisner T., Werner A., Williams T., Woodhead H., oddegard R., Bowman, Pamela, Sulen, Åsta, Barbetti, Fabrizio, Beltrand, Jacque, Svalastoga, Pernille, Codner, Ethel, Tessmann, Ellen H, Juliusson, Petur B, Skrivarhaug, Torild, Pearson, Ewan R, Flanagan, Sarah E, Babiker, Tarig, Thomas, Nicholas J, Shepherd, Maggie H, Ellard, Sian, Klimes, Iwar, Szopa, Magdalena, Polak, Michel, Iafusco, Dario, Hattersley, Andrew T, Njølstad, Pål R, Aisenberg, Javier, Akkurt, Ilker, Abdul-Latif, Hussein, Al-Abdullah, Anee, Barak, Lubomir, Van Den Bergh, Joop, Bertrand, Anne-Marie, Bizzarri, Carla, Bonfanti, Riccardo, Bruel, Henri, Burrows, Anthony, Cadario, Francesco, Cameron, Fergus J., Carson, Denni, Cartigny, Maryse, Cauvin, Vittoria, Cave, Helene, Chakera, Ali, Chetan, Ravi, Chiari, Giovanni, Couch, Bob, Coutant, Régi, Cummings, Elizabeth, Dankovcikova, Adriana, Davis, Liz, Deiss, Dorothee, Delvecchio, Maurizio, Faleschini, Elena, Fauret, Anne-Laure, Finn, Roisin, Ford, Tamsin, Franco, Elisa De, Gallen, Bastian De, Gasperíková, Daniela, Guntamukkala, Padma, Hakeem, Vaseem, Hasegawa, Shinji, Hathout, Eba H., Heffernan, Emmeline, Hill, David, Ho, Josephine, Hoarau, Marie, Holl, Reinhard, Hoddinott, Rebecca, Houghton, Jane, Howard, Neville, Hughes, Natalie, Hunter, Ian, Høgåsen, Anne Kirsti, Kuulasmaa, Helena, Iocara, Sorin, Iotova, Violeta, Irgens, Henrik, Jaap, Alan, Jones, Kenneth, Kapellen, Thoma, Kaufman, Ellen, Klinge, Andrea, Klupa, Tomasz, Krishnaswamy, Ramaiyer, Lafferty, Tony, Legault, Laurent, Lambert, Paul, Malecki, Maciej T, Malievsky, Olag, Mathew, Revi, Mathews, France, Mcvie, Robert, Menzel, Ulrike, Metz, Chantale, Meulen, John Van Der, Modgil, Gita, Mul, Dick, Muther, Silvia, Nuboer, Roo, O'Connell, Susan M., O'Riordan, Stephen, Palko, Miroslav, Patel, Kashyap Amratlal, Pesavento, Roberta, Piccinno, Elvira, Pillai, Janani Kumaraguru, Pruhova, Stephanka, Punthakee, Zubin, Rabbone, Ivana, Raile, Klemen, Rincon, Marielisa, Rose, Danette, Sanchez, Janine, Sandereson, Susan, Saxena, Vinay, Schebek, Martin, Schmidt, Dorothee, Shehadeh, Naim, Shiels, Julian P. H., Silva, Jose M. C. L, Stanik, Juraj, Tinklin, Tracy, Tjora, Erling, Tumini, Stefano, Tuomi, Tiinamaija, Uehara, Akiko, Velde, Robert Van der, Vermeulen, Guido, Visser, Uma, Voorhoeve, Paul, Walker, Jan, Weill, Jaque, Weisner, Tobia, Werner, Andrea, Williams, Toni, Woodhead, Helen, Øddegård, Rønnaug, Bowman, P., Sulen, A., Barbetti, F., Beltrand, J., Svalastoga, P., Codner, E., Tessmann, E. H., Juliusson, P. B., Skrivarhaug, T., Pearson, E. R., Flanagan, S. E., Babiker, T., Thomas, N. J., Shepherd, M. H., Ellard, S., Klimes, I., Szopa, M., Polak, M., Iafusco, D., Hattersley, A. T., Njolstad, P. R., Aisenberg, J., Akkurt, I., Abdul-Latif, H., Al-Abdullah, A., Barak, L., Van Den Bergh, J., Bertrand, A. -M., Bizzarri, C., Bonfanti, R., Bruel, H., Burrows, A., Cadario, F., Cameron, F. J., Carson, D., Cartigny, M., Cauvin, V., Cave, H., Chakera, A., Chetan, R., Chiari, G., Couch, B., Coutant, R., Cummings, E., Dankovcikova, A., Davis, L., Deiss, D., Delvecchio, M., Faleschini, E., Fauret, A. -L., Finn, R., Ford, T., Franco, E. D., Gallen, B. D., Gasperikova, D., Guntamukkala, P., Hakeem, V., Hasegawa, S., Hathout, E. H., Heffernan, E., Hill, D., Ho, J., Hoarau, M., Holl, R., Hoddinott, R., Houghton, J., Howard, N., Hughes, N., Hunter, I., Hogasen, A. K., Kuulasmaa, H., Ioacara, S., Iotova, V., Irgens, H., Jaap, A., Jones, K., Kapellen, T., Kaufman, E., Klinge, A., Klupa, T., Krishnaswamy, R., Lafferty, T., Legault, L., Lambert, P., Malecki, M. T., Malievsky, O., Mathew, R., Mathews, F., Mcvie, R., Menzel, U., Metz, C., Meulen, J. V. D., Modgil, G., Mul, D., Muther, S., Nuboer, R., O'Connell, S. M., O'Riordan, S., Palko, M., Patel, K. A., Pesavento, R., Piccinno, E., Pillai, J. K., Pruhova, S., Punthakee, Z., Rabbone, I., Raile, K., Rincon, M., Rose, D., Sanchez, J., Sandereson, S., Saxena, V., Schebek, M., Schmidt, D., Shehadeh, N., Shiels, J. P. H., Silva, J. M. C. L., Stanik, J., Tinklin, T., Tjora, E., Tumini, S., Tuomi, T., Uehara, A., Velde, R. V. D., Vermeulen, G., Visser, U., Voorhoeve, P., Walker, J., Weill, J., Weisner, T., Werner, A., Williams, T., Woodhead, H., and Oddegard, R.

Subjects
Endocrinology, Endocrinology, Diabetes and Metabolism, Internal Medicine
Abstract

Background: KCNJ11 mutations cause permanent neonatal diabetes through pancreatic ATP-sensitive potassium channel activation. 90% of patients successfully transfer from insulin to oral sulfonylureas with excellent initial glycaemic control; however, whether this control is maintained in the long term is unclear. Sulfonylurea failure is seen in about 44% of people with type 2 diabetes after 5 years of treatment. Therefore, we did a 10-year multicentre follow-up study of a large international cohort of patients with KCNJ11 permanent neonatal diabetes to address the key questions relating to long-term efficacy and safety of sulfonylureas in these patients. Methods: In this multicentre, international cohort study, all patients diagnosed with KCNJ11 permanent neonatal diabetes at five laboratories in Exeter (UK), Rome (Italy), Bergen (Norway), Paris (France), and Krakow (Poland), who transferred from insulin to oral sulfonylureas before Nov 30, 2006, were eligible for inclusion. Clinicians collected clinical characteristics and annual data relating to glycaemic control, sulfonylurea dose, severe hypoglycaemia, side-effects, diabetes complications, and growth. The main outcomes of interest were sulfonylurea failure, defined as permanent reintroduction of daily insulin, and metabolic control, specifically HbA 1c and sulfonylurea dose. Neurological features associated with KCNJ11 permanent neonatal diabetes were also assessed. This study is registered with ClinicalTrials.gov, number NCT02624817. Findings: 90 patients were identified as being eligible for inclusion and 81 were enrolled in the study and provided long-term (>5·5 years cut-off) outcome data. Median follow-up duration for the whole cohort was 10·2 years (IQR 9·3–10·8). At most recent follow-up (between Dec 1, 2012, and Oct 4, 2016), 75 (93%) of 81 participants remained on sulfonylurea therapy alone. Excellent glycaemic control was maintained for patients for whom we had paired data on HbA 1c and sulfonylurea at all time points (ie, pre-transfer [for HbA 1c ], year 1, and most recent follow-up; n=64)—median HbA 1c was 8·1% (IQR 7·2–9·2; 65·0 mmol/mol [55·2–77·1]) before transfer to sulfonylureas, 5·9% (5·4–6·5; 41·0 mmol/mol [35·5–47·5]; p

Published
2018

12. Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia

Author

Perez, B., Mechinaud, F., Galambrun, C., Romdhane, N. Ben, Isidor, B., Philip, N., Derain-Court, J., Cassinat, B., Lachenaud, J., Kaltenbach, S., Salmon, A., Desiree, C., Pereira, S., Menot, M.L., Royer, N., Fenneteau, O., Baruchel, A., Chomienne, C., Verloes, A., and Cave, H.

Subjects
Chronic myelomonocytic leukemia -- Genetic aspects, Chronic myelomonocytic leukemia -- Risk factors, Chronic myelomonocytic leukemia -- Research, Gene mutations -- Research, Ubiquitin-proteasome system -- Genetic aspects, Ubiquitin-proteasome system -- Research, Health
Published
2010

15. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

Author

Kerr, B., Delrue, M.-A., Sigaudy, S., Perveen, R., Marche, M., Burgelin, I., Stef, M., Tang, B., Eden, O.B., OESullivan, J., De Sandre-Giovannoli, A., Reardon, W., Brewer, C., Bennett, C., Quarell, O., MECann, E., Donnai, D., Stewart, F., Hennekam, R., Cave, H., Verloes, A., Philip, N., Lacombe, D., Levy, N., Arveiler, B., and Black, G.

Subjects
Multiple abnormalities -- Genetic aspects, Multiple abnormalities -- Causes of, Multiple abnormalities -- Research, Gene mutations -- Analysis, Health
Published
2006

19. Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

Author

Pannone, L, Bocchinfuso, G, Flex, E, Rossi, C, Baldassarre, G, Lissewski, C, Pantaleoni, F, Consoli, F, Lepri, F, Magliozzi, M, Anselmi, M, Delle Vigne, S, Sorge, G, Karaer, K, Cuturilo, G, Sartorio, A, Tinschert, S, Accadia, M, Digilio, M, Zampino, G, De Luca, A, Cave, H, Zenker, M, Gelb, B, Dallapiccola, B, Stella, L, Ferrero, G, Martinelli, S, and Tartaglia, M

Subjects
Models, Molecular, PTPN11 mutations, MAP Kinase Signaling System, Noonan syndrome, genotype-phenotype correlation analysis, structural and functional studies, Mutation, Missense, Protein Tyrosine Phosphatase, Non-Receptor Type 11, src Homology Domains, HEK293 Cells, Protein Domains, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Mutation, Genetics, Humans, Genetics (clinical), Genetic Predisposition to Disease, Settore CHIM/02 - Chimica Fisica, Protein Binding
Abstract

Germline mutations in PTPN11, the gene encoding the Src-homology 2 (SH2) domain-containing protein tyrosine phosphatase (SHP2), cause Noonan syndrome (NS), a relatively common, clinically variable, multisystem disorder. Here, we report on the identification of five different PTPN11 missense changes affecting residues Leu

Published
2017

21. PREDICTIVE VALUE OF IG/TR AND BCR/ABL1 PCR-BASED MINIMAL RESIDUAL DISEASE MONITORING IN PH plus PEDIATRIC ALL TREATED WITH IMATINIB IN THE ESPHALL STUDY

Author

Cazzaniga, G., Lorenzo, P., Alten, J., Roettgers, S., Hancock, J., Saha, V., Castor, A., Madsen, H., Gandemer, V., Cave, H., Leoni, V., Ferrari, G., Pieters, R., Velden, V., Stary, J., Zuna, J., Escherich, G., Zur Stadt, U., Maurizio Arico', Conter, V., Schrappe, M., Valsecchi, M. G., Biondi, A., Centre Hospitalier Universitaire [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), and Jonchère, Laurent

Subjects
[SDV.GEN]Life Sciences [q-bio]/Genetics, education, [SDV.GEN] Life Sciences [q-bio]/Genetics, social sciences, humanities, geographic locations, health care economics and organizations
Abstract

International audience; 21st Congress of the European-Hematology-Association

Published
2016

22. Ikzf1 Deletion Status Discriminates For Outcome In Imatinibtreated Bcr-Abl1-Positive Childhood ALL

Author

Veer, A, Zaliova, M, Mottadelli, F, Lorenzo, P, Kronnie, G, Harrison, C, Cave, H, Trka, J, Saha, V, Schrappe, M, Pieters, R, BIONDI, ANDREA, VALSECCHI, MARIA GRAZIA, Stanulla, M, Boer, M, Cazzaniga, G., Veer, A, Zaliova, M, Mottadelli, F, Lorenzo, P, Kronnie, G, Harrison, C, Cave, H, Trka, J, Saha, V, Schrappe, M, Pieters, R, Biondi, A, Valsecchi, M, Stanulla, M, Boer, M, and Cazzaniga, G

Subjects
Bcr-Abl1-Positive, Acute Lymphoblastic Leukemia, Childhood, Ikzf1
Published
2013

23. An intragenic ERG deletion (ERGdel) is a marker of an oncogenic subtype of B-cell precursor acute lymphoblastic leukemia with a favorable outcome despite frequent IKZF1 deletions

Author

Emmanuelle Clappier, Marie-Françoise Auclerc, Jerome Rapion, Marleen Bakkus, Aurélie Caye, Ahlène Khemiri, Christine Giroux, Lucie Hernandez, Emmanuelle Kabongo, Suvi Savola, Thierry Leblanc, Karima Yakouben, Geneviève Plat, Costa, V., Ferster, A., Girard, S., Odile Fenneteau, Jean-Michel Cayuela, François Sigaux, Nicole Dastugue, Suciu, S., Benoit, Y., Yves Bertrand, Jean Soulier, Cave, H., and Hematology

Subjects
B-cell precursor acute lymphoblastic leukemia, ERG, Molecular diagnostics, IKZF1
Abstract

Oncogenic subtypes in childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL) are used for risk-stratification. However, a significant number of BCPALLpatients are still genetically unassigned. Using array-CGH in a selected BCPALL cohort, we characterized a recurrent V(D)J-mediated intragenic deletion of the ERG gene (ERGdel). A breakpoint-specific PCR assay was designed and used to screen an independent non-selected cohort of 897 children aged 1-17 years treated for BCP-ALL in the EORTC-CLG 58951 trial. ERGdel was found in 29/897 patients (3.2%) and was mutually exclusive of known classifying genetic lesions, suggesting that it characterized a distinct leukemia entity. ERGdel was associated with higher age (median 7.0 years vs. 4.0 years, P=0.004), aberrant CD2 expression (43.5% vs. 3.7%, P

Published
2014

25. Standardization and quality control studies of 'real-time' quantitative reverse transcriptase polymerase chain reaction of fusion gene transcripts for residual disease detection in leukemia - a Europe AgainstCancer program

Author

Gabert, J., Beillard, E., van der Velden, VH., Bi, W., Grimwade, D., Pallisgaard, N., Barbany, G., Cazzaniga, G., Cayuela, J.M., Cave, H., Pane, F., Aerts, J.L., De Micheli, D., Thirion, X., Pradel, V., Gonzalez, M., Viehmann, S., Malec, M., Saglio, G., and van Dongen, J.J

Published
2003

29. Multi-Species Fluxes for the Parallel Quiet Direct Simulation (QDS) Method.

Author

Cave, H. M., Lim, C.-W., Jermy, M. C., Krumdieck, S. P., Smith, M. R., Lin, Y.-J., and Wu, J.-S.

Subjects
*GAS flow, *XENON, *HELIUM, *MIXTURES, *SIMULATION methods & models, *CHEMICAL vapor deposition, *CHEMICAL reactors
Abstract

Fluxes of multiple species are implemented in the Quiet Direct Simulation (QDS) scheme for gas flows. Each molecular species streams independently. All species are brought to local equilibrium at the end of each time step. The multi species scheme is compared to DSMC simulation, on a test case of a Mach 20 flow of a xenon/helium mixture over a forward facing step. Depletion of the heavier species in the bow shock and the near-wall layer are seen. The multi-species QDS code is then used to model the flow in a pulsed-pressure chemical vapour deposition reactor set up for carbon film deposition. The injected gas is a mixture of methane and hydrogen. The temporal development of the spatial distribution of methane over the substrate is tracked. [ABSTRACT FROM AUTHOR]

Published
2011
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30. General Higher Order Extension to the Quiet Direct Simulation Method.

Author

Lin, Y.-J., Smith, M. R., Cave, H. M., Huang, J.-C., and Wu, J.-S.

Subjects
SIMULATION methods & models, POLYNOMIALS, COMPARATIVE studies, NUMERICAL analysis, FIELD theory (Physics), PARTICLE dynamics, VOLUMETRIC analysis
Abstract

Presented is the multi-dimensional extension of the Quiet Direct Simulation (QDS) method to general, higher order spatial accuracy. Due to the true directional nature of QDS, where volume-to-volume fluxes are computed as opposed to fluxes at cell interfaces, a volumetric reconstruction is required. In this approach, the conserved quantities are permitted to vary (according to a polynomial expression) across all simulated dimensions. Prior to flux computation, QDS particles are introduced using properties based on weighted moments taken over the polynomial reconstruction of conserved quantity fields. The resulting flux expressions are shown to exactly reproduce existing 2nd order extensions (for one-dimensional flows) while providing means for true multi-dimensional reconstruction and general higher order extensions. Here we will show a typical comparison among different spatial order extensions of QDS and other WENO (5th order accurate) based numerical scheme. The extension is demonstrated up to 5th order spatial accuracy and is shown to be comparable to or more accurate than the other higher order schemes. [ABSTRACT FROM AUTHOR]

Published
2011
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31. Validity and Inherent Viscosity of the Quiet Direct Simulation Method.

Author

Jermy, M. C., Lim, C.-W., and Cave, H. M.

Subjects
VISCOSITY, GAS flow, MAXWELL-Boltzmann distribution law, NUMERICAL analysis, SIMULATION methods & models, LATTICE Boltzmann methods, MOLECULE-molecule collisions
Abstract

The Quiet Direct Simulation (QDS) scheme is a numerical method for modelling gas flows, based on kinetic theory, with some similarities to the Lattice Boltzmann Method (LBM). It differs from LBM notably in that the discrete molecular velocities are not constant but are reset each timestep according to local values of bulk velocity and temperature. For this reason it performs well in highly compressible flows. Two features of the scheme limit its accuracy in low Mach number flows. QDS assumes a Maxwell distribution of molecular velocities. The validity of this assumption may be tested by calculating the gradient Knudsen number and average number of collisions per timestep. The separation of collision and streaming leads to excessive diffusion of momentum, leading to a very high effective viscosity of the modelled gas when the grid spacing is larger than the mean free path. This numerical dissipation is different in character from the dissipation due to the finite order of the spatial reconstruction, common to all finite volume methods, which is also present. The effective viscosity is quantified for simple shear flows and tested in models of a 2D channel flow. A crude model of intermolecular collision during streaming is implemented and shown to reduce the effective viscosity. [ABSTRACT FROM AUTHOR]

Published
2011
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32. Quiet Direct Simulation (QDS) of Viscous Flow Using the Chapman-Enskog Distribution.

Author

Smith, M. R., Kuo, F.-A., Cave, H. M., Jermy, M. C., and Wu, J.-S.

Subjects
VISCOUS flow, ALGORITHMS, DISTRIBUTION (Probability theory), GRAPHICS processing units, PERFORMANCE evaluation, SHOCK waves, SIMULATION methods & models, TESTING
Abstract

Presented here is the QDS method modified to employ an arbitrary governing velocity probability distribution. An algorithm is presented for the computation of QDS particle 'blueprints'. The method, which employs a known continuous velocity probability distribution function, uses a set of fixed QDS particle 'weights', which can be arbitrarily selected. Provided the weights, particle 'blueprint' velocities are computed by taking multiple moments around the governing velocity probability distribution function to provide the discrete representation employed by QDS. In particular, we focus on the results obtained when the governing distribution function is the Chapman-Enskog distribution function. Results are shown for several benchmark tests including a one dimensional standing shock wave and a two dimensional lid driven cavity problem. Finally, the performance of QDS when applied to General Purpose computing on Graphics Processing Units (GPGPU) is demonstrated. [ABSTRACT FROM AUTHOR]

Published
2011
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33. Implementation of the Transient Adaptive Sub-Cell Module for the Parallel DSMC Code.

Author

Tseng, K. C., Cave, H. M., Kuo, T. C., Jermy, M. C., Krumdieck, S. P., and Wu, J. S.

Subjects
*MATHEMATICAL continuum, *ALGORITHMS, *PARTICLES, *CELLS, *FOUNDATIONS of arithmetic
Abstract

A method of transient adaptive sub-cells (TAS) suitable for unstructured grids in Direct Simulation Monte Carlo (DSMC) simulations is introduced. The TAS algorithm is implemented within the frame work of a parallelized DSMC code (PDSC). Benchmarking tests are conducted for driven cavity flow, hypersonic flow over a two-dimensional cylinder and the unsteady vortex shedding behind a two-dimensional cylinder. The use of TAS enabled a reduction in the computational expense of the simulation since larger sampling cells and less simulation particles could be employed. Furthermore, the collision quality of the simulation was maintained or improved and the preservation of property gradients and vorticity at the scale of the sub-cells enabled correct unsteady vortex shedding frequencies to be predicted. The use of TAS in a parallel DSMC code allows simulations of unsteady processes at a near continuum level to be carried out efficiently, accurately and with acceptable computational times. [ABSTRACT FROM AUTHOR]

Published
2008
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34. DREAM: An Efficient Methodology for DSMC Simulation of Unsteady Processes.

Author

Cave, H. M., Jermy, M. C., Tseng, K. C., and Wu, J. S.

Subjects
*SCATTERING (Physics), *PARTICLES, *UNSTEADY flow (Aerodynamics), *ALGORITHMS, *COLLISIONS (Nuclear physics), *SIMULATION methods & models
Abstract

A technique called the DSMC Rapid Ensemble Averaging Method (DREAM) for reducing the statistical scatter in the output from unsteady DSMC simulations is introduced. During post-processing by DREAM, the DSMC algorithm is re-run multiple times over a short period before the temporal point of interest thus building up a combination of time- and ensemble-averaged sampling data. The particle data is regenerated several mean collision times before the output time using the particle data generated during the original DSMC run. This methodology conserves the original phase space data from the DSMC run and so is suitable for reducing the statistical scatter in highly non-equilibrium flows. In this paper, the DREAM-II method is investigated and verified in detail. Propagating shock waves at high Mach numbers (Mach 8 and 12) are simulated using a parallel DSMC code (PDSC) and then post-processed using DREAM. The ability of DREAM to obtain the correct particle velocity distribution in the shock structure is demonstrated and the reduction of statistical scatter in the output macroscopic properties is measured. DREAM is also used to reduce the statistical scatter in the results from the interaction of a Mach 4 shock with a square cavity and for the interaction of a Mach 12 shock on a wedge in a channel. [ABSTRACT FROM AUTHOR]

Published
2008
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35. An Approximate Method for Solving Rarefied and Transitional Flows using TDEFM with Isotropic Mesh Adaptation.

Author

Smith, M. R., Cave, H. M., Wu, J. S., and Macrossan, M. N.

Subjects
*PARTICLES, *SIMULATION methods & models, *KINETIC theory of gases, *SCATTERING (Physics), *MOMENTUM (Mechanics), *DISTRIBUTION (Probability theory)
Abstract

DSMC [1] can become increasingly expensive when extended to the near-continuum regime. Because of the statistical nature of the results, long run times are required to build up samples of simulator particles large enough to reduce the statistical scatter to acceptable levels. Here we adapt a kinetic theory based flux method to produce a quick approximate solver for transition and near-continuum flows. The results have no statistical scatter. The CPU times are similar to those of traditional continuum (Navier-Stokes or Euler) solvers. The True Direction Equilibrium Flux Method (TDEFM) [2, 3] is a generalisation of Pullin’s kinetic theory based EFM [4]. TDEFM can transfer fluxes of mass, momentum and energy in physically realistic directions from any source cell to any destination cell, even if the cells do not share an interface. TDEFM, as an Euler solver, has been shown to provide good results on a Cartesian grid for flows where standard continuum methods produce unphysical asymmetries apparently because the continuum fluxes are constrained (in one time step) to flow in the grid coordinate directions rather than the correct physical direction. [2, 3] The new method for rarefied flow does not try to produce the correct velocity distribution function, but does ensure that mass, momentum and energy are transported within the flow over the physically correct distances between “pseudo-collisions.” To ensure this, (1) the time step is restricted so that mass, momentum and energy are exchanged between contiguous cells only in one time step, and (2) the cells sizes are adapted, as steady state is approached, to be approximately equal to the local mean free path. The results for Mach 5 flow over a flat plate for varying Knudsen numbers show an average difference (compared to DSMC) in the X-velocity profile near the surface of the plate of less than 6 percent. TDEFM, employing adaptive mesh refinement, required less than 9 percent of the computational time required by DSMC for the same flow. Thus the approximate method could be useful for quick “first-estimate” solutions of otherwise time consuming design problems. [ABSTRACT FROM AUTHOR]

Published
2008
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36. Surface tension effects on liquid flow in small plastic tubes when gas bubbles are present.

Author

Myers, M. R., Cave, H. M., and Krumdieck, S. P.

Subjects
SURFACE tension, SURFACE chemistry, TWO-phase flow, FLUID dynamics, GAS flow
Abstract

Two-phase intermittent gas and liquid slug flow in small diameter glass and plastic tubes was studied. Two distinct flow regimes and the transition phenomena were identified. A modified Hagen–Poiseuille relation was derived to describe the extremely high pressure drop due to the surface tension effects of pinned slug flow. [ABSTRACT FROM AUTHOR]

Published
2005
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37. CORRESPONDENCE.

Author

Guidal, C., Vilmer, E., Grandchamp, B., Cave, H., Taub, J.W., Matherly, L.H., Ravindranath, Y., Kaspers, G.-J.L., Rots, M.G., and van Zantwijk, C.H.

Subjects
LYMPHOBLASTIC leukemia, LEUKEMIA
Abstract

Presents several views and counter-views on acute lymphoblastic leukemia. Key issues of interest; Analysis of pertinent topics and relevant issues; Implications on the study of leukemia.

Published
2002

46. Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings.

Author

Kamoun, T., Chabchoub, I., Ben Ameur, S., Kmiha, S., Aloulou, H., Cave, H., Polak, M., and Hachicha, M.

Subjects
*GENETICS of diabetes, *GENETIC mutation, *NEONATAL diseases, *BLOOD gases analysis, *INSULIN, *BLOOD pressure
Abstract

Summary Transient neonatal diabetes mellitus is a rare disease usually associated with chromosome 6 abnormalities. Mutations of the genes encoding the potassium channel are rarely associated with these transitional forms. Herein, we report the clinical features of two siblings with a heterozygous mutation C679 G>A in the KCNJ11 gene. [ABSTRACT FROM AUTHOR]

Published
2017
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47. Clonal dynamics in pediatric B-cell precursor acute lymphoblastic leukemia with very early relapse

Author

Lionel Morgado, Jean-Pierre Bourquin, Mireia Camós, Hélène Cavé, Cedric G. van der Ham, Esmé Waanders, Peter M. Hoogerbrugge, Simon V. van Reijmersdal, Roland P. Kuiper, Cornelia Eckert, Željko Antić, Ad Geurts van Kessel, Beat Bornhauser, Anthony V. Moorman, Rosemary Sutton, Giovanni Cazzaniga, Frank N. van Leeuwen, Sarah Elitzur, Edwin Sonneveld, Stefan H. Lelieveld, Jiangyan Yu, Antic, Z, Yu, J, Bornhauser, B, Lelieveld, S, van der Ham, C, van Reijmersdal, S, Morgado, L, Elitzur, S, Bourquin, J, Cazzaniga, G, Eckert, C, Camos, M, Sutton, R, Cave, H, Moorman, A, Sonneveld, E, Geurts van Kessel, A, van Leeuwen, F, Hoogerbrugge, P, Waanders, E, Kuiper, R, University of Zurich, and Kuiper, Roland P

Subjects
Oncology, medicine.medical_specialty, Lymphoblastic Leukemia, 2720 Hematology, Clone (cell biology), lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Graft vs Host Disease, 610 Medicine & health, pediatric acute lymphoblastic leukemia, clonal dynamics, Somatic evolution in cancer, very early relapse, Clonal Evolution, Recurrence, Internal medicine, medicine, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Humans, 2735 Pediatrics, Perinatology and Child Health, TP53, Allele, RAD21, Child, WHSC1, B cell, business.industry, Wild type, Hematology, Genomics, Precursor Cell Lymphoblastic Leukemia-Lymphoma, medicine.disease, Prognosis, Minimal residual disease, Leukemia, medicine.anatomical_structure, 10036 Medical Clinic, Pediatrics, Perinatology and Child Health, 2730 Oncology, business, clonal dynamic
Abstract

Contains fulltext : 248362.pdf (Publisher’s version ) (Open Access) INTRODUCTION: One-quarter of the relapses in children with B-cell precursor acute lymphoblastic leukemia (BCP-ALL) occur very early (within 18 months, before completion of treatment), and prognosis in these patients is worse compared to cases that relapse after treatment has ended. METHODS: In this study, we performed a genomic analysis of diagnosis-relapse pairs of 12 children who relapsed very early, followed by a deep-sequencing validation of all identified mutations. In addition, we included one case with a good initial treatment response and on-treatment relapse at the end of upfront therapy. RESULTS: We observed a dynamic clonal evolution in all cases, with relapse almost exclusively originating from a subclone at diagnosis. We identified several driver mutations that may have influenced the outgrowth of a minor clone at diagnosis to become the major clone at relapse. For example, a minimal residual disease (MRD)-based standard-risk patient with ETV6-RUNX1-positive leukemia developed a relapse from a TP53-mutated subclone after loss of the wildtype allele. Furthermore, two patients with TCF3-PBX1-positive leukemia that developed a very early relapse carried E1099K WHSC1 mutations at diagnosis, a hotspot mutation that was recurrently encountered in other very early TCF3-PBX1-positive leukemia relapses as well. In addition to alterations in known relapse drivers, we found two cases with truncating mutations in the cohesin gene RAD21. CONCLUSION: Comprehensive genomic characterization of diagnosis-relapse pairs shows that very early relapses in BCP-ALL frequently arise from minor subclones at diagnosis. A detailed understanding of the therapeutic pressure driving these events may aid the development of improved therapies.

Published
2022

48. Favorable outcome of NUTM1-rearranged infant and pediatric B cell precursor acute lymphoblastic leukemia in a collaborative international study

Author

Željko Antić, Sabine Strehl, Agata Pastorczak, Rob Pieters, Kentaro Ohki, Steve Hoffmann, Monique L. den Boer, Claire Schwab, Hélène Cavé, Anja Möricke, Enrique Carrillo de Santa Pau, Paola De Lorenzo, Tanja A. Gruber, Femke M. Hormann, Andishe Attarbaschi, Chloé Arfeuille, Frédéric Lambert, Ronald W. Stam, Christine J. Harrison, Rosemary Sutton, Marketa Zaliova, Tim Lammens, Toshihiko Imamura, Gabriele Escherich, Judith M. Boer, Maria Grazia Valsecchi, Giovanni Cazzaniga, Anke K. Bergmann, Chi Kong Li, Pediatrics, Boer, J, Valsecchi, M, Hormann, F, Antic, Z, Zaliova, M, Schwab, C, Cazzaniga, G, Arfeuille, C, Cave, H, Attarbaschi, A, Strehl, S, Escherich, G, Imamura, T, Ohki, K, Gruber, T, Sutton, R, Pastorczak, A, Lammens, T, Lambert, F, Li, C, Carrillo de Santa Pau, E, Hoffmann, S, Moricke, A, Harrison, C, Den Boer, M, De Lorenzo, P, Stam, R, Bergmann, A, and Pieters, R

Subjects
Oncology, Male, medicine.medical_specialty, Cancer Research, Letter, Genetic translocation, Lymphoblastic Leukemia, MEDLINE, SDG 3 - Good Health and Well-being, Internal medicine, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, medicine, Medicine and Health Sciences, Humans, Favorable outcome, Child, B cell, Gene Rearrangement, Hematology, Acute lymphocytic leukaemia, business.industry, INTENSIFICATION, Infant, Nuclear Proteins, Prognosis, Neoplasm Proteins, Survival Rate, medicine.anatomical_structure, Anesthesiology and Pain Medicine, Female, business
Published
2021

49. Clinical characteristics and outcomes of B-ALL with ZNF384 rearrangements: a retrospective analysis by the Ponte di Legno Childhood ALL Working Group

Author

Christine J. Harrison, Anja Möricke, Ching-Hon Pui, Marketa Zaliova, Hiroto Inaba, Ulrika Norén-Nyström, Kentaro Ohki, Toshihiko Imamura, Judith M. Boer, Atsushi Manabe, Shinsuke Hirabayashi, Allen Eng Juh Yeoh, Oskar A. Haas, Masashi Sanada, Nobutaka Kiyokawa, Ellie Butler, Anke K. Bergmann, Giovanni Cazzaniga, Lee Yung Shih, Hélène Cavé, Anthony V. Moorman, Charles G. Mullighan, Agata Pastorczak, Mignon L. Loh, Hirabayashi, S, Butler, E, Ohki, K, Kiyokawa, N, Bergmann, A, Moricke, A, Boer, J, Cave, H, Cazzaniga, G, Yeoh, A, Sanada, M, Imamura, T, Inaba, H, Mullighan, C, Loh, M, Noren-Nystrom, U, Pastorczak, A, Shih, L, Zaliova, M, Pui, C, Haas, O, Harrison, C, Moorman, A, and Manabe, A

Subjects
Adult, Male, Cancer Research, Pediatrics, medicine.medical_specialty, Letter, Adolescent, MEDLINE, Acute lymphoblastic leukemia, Young Adult, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Biomarkers, Tumor, Retrospective analysis, Humans, Medicine, Child, Cancer genetics, Childhood all, Retrospective Studies, Gene Rearrangement, Cancer och onkologi, Acute lymphocytic leukaemia, business.industry, Infant, Hematology, Prognosis, Survival Rate, Oncology, Child, Preschool, Cancer and Oncology, Trans-Activators, Female, business, Follow-Up Studies
Published
2021

50. Outcome of Children With Hypodiploid Acute Lymphoblastic Leukemia: A Retrospective Multinational Study

Author

Kajsa Paulsson, Andishe Attarbaschi, Rob Pieters, Sarah Elitzur, Hsi-Che Liu, Ajay Vora, Maria Grazia Valsecchi, Christine J. Harrison, Hélène Cavé, Ching-Hon Pui, Jan Stary, Lewis B. Silverman, Giuseppe Basso, Allen Eng Juh Yeoh, Katsuyoshi Koh, André Baruchel, Paola Rebora, Martin Schrappe, Pui, C, Rebora, P, Schrappe, M, Attarbaschi, A, Baruchel, A, Basso, G, Cave, H, Elitzur, S, Koh, K, Liu, H, Paulsson, K, Pieters, R, Silverman, L, Stary, J, Vora, A, Yeoh, A, Harrison, C, and Valsecchi, M

Subjects
Male, Cancer Research, medicine.medical_specialty, Neoplasm, Residual, Allogeneic transplantation, Adolescent, Time Factor, medicine.medical_treatment, Hematopoietic stem cell transplantation, Antineoplastic Agent, Young Adult, Retrospective Studie, Internal medicine, medicine, Age Factor, Progression-free survival, Child, Survival rate, Transplantation, Homologou, Clinical Trials as Topic, business.industry, Hematopoietic Stem Cell Transplantation, Retrospective cohort study, ORIGINAL REPORTS, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Diploidy, Minimal residual disease, Progression-Free Survival, Transplantation, Oncology, Child, Preschool, Female, business, Human, Hypodiploid Acute Lymphoblastic Leukemia
Abstract

PURPOSE We determined the prognostic factors and utility of allogeneic hematopoietic cell transplantation among children with newly diagnosed hypodiploid acute lymphoblastic leukemia (ALL) treated in contemporary clinical trials. PATIENTS AND METHODS This retrospective study collected data on 306 patients with hypodiploid ALL who were enrolled in the protocols of 16 cooperative study groups or institutions between 1997 and 2013. The clinical and biologic characteristics, early therapeutic responses as determined by minimal residual disease (MRD) assessment, treatment with or without MRD-stratified protocols, and allogeneic transplantation were analyzed for their impact on outcome. RESULTS With a median follow-up of 6.6 years, the 5-year event-free survival rate was 55.1% (95% CI, 49.3% to 61.5%), and the 5-year overall survival rate was 61.2% (95% CI, 55.5% to 67.4%) for the 272 evaluable patients. Negative MRD at the end of remission induction, high hypodiploidy with 44 chromosomes, and treatment in MRD-stratified protocols were associated with a favorable prognosis, with a 5-year event-free survival rate of 75% (95% CI, 66.0% to 85.0%), 74% (95% CI, 61.0% to 89.0%), and 62% (95% CI, 55.0% to 69.0%), respectively. After exclusion of patients with high hypodiploidy with 44 chromosomes and adjustment for waiting time to transplantation and for covariables in a Poisson model, disease-free survival did not differ significantly ( P = .16) between the 42 patients who underwent transplantation and the 186 patients who received chemotherapy only, with an estimated 5-year survival rate of 59% (95% CI, 46.5% to 75.0%) versus 51.5% (95% CI, 44.7% to 59.4%), respectively. Transplantation produced no significant impact on outcome compared with chemotherapy alone, especially among the subgroup of patients who achieved a negative MRD status upon completion of remission induction. CONCLUSION MRD-stratified treatments improved the outcome for children with hypodiploid ALL. Allogeneic transplantation did not significantly improve outcome overall and, in particular, for patients who achieved MRD-negative status after induction.

Published
2019

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