Search

Your search keyword '"Revel-Vilk S"' showing total 264 results
Start Over Author "Revel-Vilk S"
264 results on '"Revel-Vilk S"'

3. EBV-DRIVEN LYMPHOID NEOPLASMS ASSOCIATED WITH ALL MAINTENANCE THERAPY: AN INTERNATIONAL OBSERVATINAL STUDY

Author

Elitzur, S., primary, Vora, A., additional, Burkhardt, B., additional, Inaba, H., additional, Attarbaschi, A., additional, Baruchel, A., additional, Escherich, G., additional, Gibson, B., additional, Liu, H., additional, Loh, M., additional, Moorman, A., additional, Moricke, A., additional, Pieters, R., additional, Uyttebroeck, A., additional, Baird, S., additional, Bartram, J., additional, Ben-Harosh, M., additional, Bertrand, Y., additional, Buitenkamp, T., additional, Caldwell, K., additional, Drut, R., additional, Geerlinks, A., additional, Grainger, J., additional, Haouy, S., additional, Heaney, N., additional, Huang, M., additional, Ingham, D., additional, Krenova, Z., additional, Kuhlen, M., additional, Lehrnbecher, T., additional, Manabe, A., additional, Niggli, F., additional, Paris, C., additional, Revel-Vilk, S., additional, Rohrlich, P., additional, Sandeep, B., additional, Sinno, M., additional, Szczepanski, T., additional, Tamesberger, M., additional, Warrier, R., additional, Wolfl, M., additional, Nirel, R., additional, Izraeli, S., additional, Borkhardt, A., additional, and Schmiegelow, K., additional

Published
2022
Full Text
View/download PDF

5. Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

Author

Dardis, A, Michelakakis, H, Rozenfeld, P, Fumic, K, Wagner, J, Pavan, E, Fuller, M, Revel-Vilk, S, Hughes, D, Cox, T, Aerts, J, International Working Group Of Gaucher Disease (IWGGD), Dardis, A [0000-0001-7024-8181], and Apollo - University of Cambridge Repository

Subjects
Genetic testing, Gaucher Disease, Clinical Laboratory Techniques, Patient-Centered Care, Lysosomal storage diseases, Humans, Glucosylceramidase, Review, Enzyme activity, Glucosylceramides, Biomarkers
Abstract

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to the deficient activity of the acid beta-glucosidase (GCase) enzyme, resulting in the progressive lysosomal accumulation of glucosylceramide (GlcCer) and its deacylated derivate, glucosylsphingosine (GlcSph). GCase is encoded by the GBA1 gene, located on chromosome 1q21 16 kb upstream from a highly homologous pseudogene. To date, more than 400 GBA1 pathogenic variants have been reported, many of them derived from recombination events between the gene and the pseudogene. In the last years, the increased access to new technologies has led to an exponential growth in the number of diagnostic laboratories offering GD testing. However, both biochemical and genetic diagnosis of GD are challenging and to date no specific evidence-based guidelines for the laboratory diagnosis of GD have been published. The objective of the guidelines presented here is to provide evidence-based recommendations for the technical implementation and interpretation of biochemical and genetic testing for the diagnosis of GD to ensure a timely and accurate diagnosis for patients with GD worldwide. The guidelines have been developed by members of the Diagnostic Working group of the International Working Group of Gaucher Disease (IWGGD), a non-profit network established to promote clinical and basic research into GD for the ultimate purpose of improving the lives of patients with this disease. One of the goals of the IWGGD is to support equitable access to diagnosis of GD and to standardize procedures to ensure an accurate diagnosis. Therefore, a guideline development group consisting of biochemists and geneticists working in the field of GD diagnosis was established and a list of topics to be discussed was selected. In these guidelines, twenty recommendations are provided based on information gathered through a systematic review of the literature and two different diagnostic algorithms are presented, considering the geographical differences in the access to diagnostic services. Besides, several gaps in the current diagnostic workflow were identified and actions to fulfill them were taken within the IWGGD. We believe that the implementation of recommendations provided in these guidelines will promote an equitable, timely and accurate diagnosis for patients with GD worldwide.

Published
2022

6. P835: GENETIC BACKGROUND AND CLINICAL CHARACTERISTICS OF CONGENITAL NEUTROPENIAS IN ISRAEL

Author

Steinberg-Shemer, O., primary, Yeshareem, L., additional, Noy-Lotan, S., additional, Dgany, O., additional, Krasnov, T., additional, Berger Pinto, G., additional, Bielorai, B., additional, Kuperman, A. A., additional, Laor, R., additional, Mandel-Shorer, N., additional, Ben Barak, A., additional, Levin, C., additional, Mahdi, A., additional, Miskin, H., additional, Revel-Vilk, S., additional, Levin, D., additional, Benish, M., additional, Zuckerman, T., additional, Wolach, O., additional, Pazgal, I., additional, Gilad, O., additional, Goldberg, T., additional, Yacobovich, J., additional, Izraeli, S., additional, and Tamary, H., additional

Published
2022
Full Text
View/download PDF

9. Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

Author

Dardis, Andrea Elena, Michelakakis, Helen, Rozenfeld, Paula Adriana, Fumic, Ksenija, Wagner, J., Pavan, Eleonora, Fuller, M., Revel‑Vilk, S., Hughes, D., Cox, Timothy, and Aerts, Johannes

Subjects
Genetic testing, Biología, Ciencias Médicas, Pharmacology (medical), General Medicine, Gaucher disease, Enzyme activity, Genetics (clinical), Biomarkers
Abstract

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to the deficient activity of the acid beta-glucosidase (GCase) enzyme, resulting in the progressive lysosomal accumulation of glucosylceramide (GlcCer) and its deacylated derivate, glucosylsphingosine (GlcSph). GCase is encoded by the GBA1 gene, located on chromosome 1q21 16 kb upstream from a highly homologous pseudogene. To date, more than 400 GBA1 pathogenic variants have been reported, many of them derived from recombination events between the gene and the pseudogene. In the last years, the increased access to new technologies has led to an exponential growth in the number of diagnostic laboratories offering GD testing. However, both biochemical and genetic diagnosis of GD are challenging and to date no specific evidence-based guidelines for the laboratory diagnosis of GD have been published. The objective of the guidelines presented here is to provide evidence-based recommendations for the technical implementation and interpretation of biochemical and genetic testing for the diagnosis of GD to ensure a timely and accurate diagnosis for patients with GD worldwide. The guidelines have been developed by members of the Diagnostic Working group of the International Working Group of Gaucher Disease (IWGGD), a non-profit network established to promote clinical and basic research into GD for the ultimate purpose of improving the lives of patients with this disease. One of the goals of the IWGGD is to support equitable access to diagnosis of GD and to standardize procedures to ensure an accurate diagnosis. Therefore, a guideline development group consisting of biochemists and geneticists working in the field of GD diagnosis was established and a list of topics to be discussed was selected. In these guidelines, twenty recommendations are provided based on information gathered through a systematic review of the literature and two different diagnostic algorithms are presented, considering the geographical differences in the access to diagnostic services. Besides, several gaps in the current diagnostic workflow were identified and actions to fulfill them were taken within the IWGGD. We believe that the implementation of recommendations provided in these guidelines will promote an equitable, timely and accurate diagnosis for patients with GD worldwide., Instituto de Estudios Inmunológicos y Fisiopatológicos

Published
2022

20. 007 - EBV-DRIVEN LYMPHOID NEOPLASMS ASSOCIATED WITH ALL MAINTENANCE THERAPY: AN INTERNATIONAL OBSERVATINAL STUDY

Author

Elitzur, S., Vora, A., Burkhardt, B., Inaba, H., Attarbaschi, A., Baruchel, A., Escherich, G., Gibson, B., Liu, H., Loh, M., Moorman, A., Moricke, A., Pieters, R., Uyttebroeck, A., Baird, S., Bartram, J., Ben-Harosh, M., Bertrand, Y., Buitenkamp, T., Caldwell, K., Drut, R., Geerlinks, A., Grainger, J., Haouy, S., Heaney, N., Huang, M., Ingham, D., Krenova, Z., Kuhlen, M., Lehrnbecher, T., Manabe, A., Niggli, F., Paris, C., Revel-Vilk, S., Rohrlich, P., Sandeep, B., Sinno, M., Szczepanski, T., Tamesberger, M., Warrier, R., Wolfl, M., Nirel, R., Izraeli, S., Borkhardt, A., and Schmiegelow, K.

Published
2022
Full Text
View/download PDF

27. Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Author

Farmery, JHR, Smith, ML, Lynch, AG, Huissoon, A, Furnell, A, Mead, A, Levine, AP, Manzur, A, Thrasher, A, Greenhalgh, A, Parker, A, Sanchis-Juan, A, Richter, A, Gardham, A, Lawrie, A, Sohal, A, Creaser-Myers, A, Frary, A, Greinacher, A, Themistocleous, A, Peacock, AJ, Marshall, A, Mumford, A, Rice, A, Webster, A, Brady, A, Koziell, A, Manson, A, Chandra, A, Hensiek, A, In't Veld, AH, Maw, A, Kelly, AM, Moore, A, Noordegraaf, AV, Attwood, A, Herwadkar, A, Ghofrani, A, Houweling, AC, Girerd, B, Furie, B, Treacy, CM, Millar, CM, Sewell, C, Roughley, C, Titterton, C, Williamson, C, Hadinnapola, C, Deshpande, C, Toh, C-H, Bacchelli, C, Patch, C, Van Geet, C, Babbs, C, Bryson, C, Penkett, CJ, Rhodes, CJ, Watt, C, Bethune, C, Booth, C, Lentaigne, C, McJannet, C, Church, C, French, C, Samarghitean, C, Halmagyi, C, Gale, D, Greene, D, Hart, D, Allsup, D, Bennett, D, Edgar, D, Kiely, DG, Gosal, D, Perry, DJ, Keeling, D, Montani, D, Shipley, D, Whitehorn, D, Fletcher, D, Krishnakumar, D, Grozeva, D, Kumararatne, D, Thompson, D, Josifova, D, Maher, E, Wong, EKS, Murphy, E, Dewhurst, E, Louka, E, Rosser, E, Chalmers, E, Colby, E, Drewe, E, McDermott, E, Thomas, E, Staples, E, Clement, E, Matthews, E, Wakeling, E, Oksenhendler, E, Turro, E, Reid, E, Wassmer, E, Raymond, FL, Hu, F, Kennedy, F, Soubrier, F, Flinter, F, Kovacs, G, Polwarth, G, Ambegaonkar, G, Arno, G, Hudson, G, Woods, G, Coghlan, G, Hayman, G, Arumugakani, G, Schotte, G, Cook, HT, Alachkar, H, Allen, HL, Lango-Allen, H, Stark, H, Stauss, H, Schulze, H, Boggard, HJ, Baxendale, H, Dolling, H, Firth, H, Gall, H, Watson, H, Longhurst, H, Markus, HS, Watkins, H, Simeoni, I, Emmerson, I, Roberts, I, Quinti, I, Wanjiku, I, Gibbs, JSR, Thaventhiran, J, Whitworth, J, Hurst, J, Collins, J, Suntharalingam, J, Payne, J, Thachil, J, Martin, JM, Martin, J, Carmichael, J, Maimaris, J, Paterson, J, Pepke-Zaba, J, Heemskerk, JWM, Gebhart, J, Davis, J, Pasi, J, Bradley, JR, Wharton, J, Stephens, J, Rankin, J, Anderson, J, Vogt, J, Von Ziegenweldt, J, Rehnstrom, K, Megy, K, Talks, K, Peerlinck, K, Yates, K, Freson, K, Stirrups, K, Gomez, K, Smith, KGC, Carss, K, Rue-Albrecht, K, Gilmour, K, Masati, L, Scelsi, L, Southgate, L, Ranganathan, L, Ginsberg, L, Devlin, L, Willcocks, L, Ormondroyd, L, Lorenzo, L, Harper, L, Allen, L, Daugherty, L, Chitre, M, Kurian, M, Humbert, M, Tischkowitz, M, Bitner-Glindzicz, M, Erwood, M, Scully, M, Veltman, M, Caulfield, M, Layton, M, McCarthy, M, Ponsford, M, Toshner, M, Bleda, M, Wilkins, M, Mathias, M, Reilly, M, Afzal, M, Brown, M, Rondina, M, Stubbs, M, Haimel, M, Lees, M, Laffan, MA, Browning, M, Gattens, M, Richards, M, Michaelides, M, Lambert, MP, Makris, M, De Vries, M, Mahdi-Rogers, M, Saleem, M, Thomas, M, Holder, M, Eyries, M, Clements-Brod, N, Canham, N, Dormand, N, Van Zuydam, N, Kingston, N, Ghali, N, Cooper, N, Morrell, NW, Yeatman, N, Roy, N, Shamardina, O, Alavijeh, OS, Gresele, P, Nurden, P, Chinnery, P, Deegan, P, Yong, P, Yu-Wai-Man, P, Corris, PA, Calleja, P, Gissen, P, Bolton-Maggs, P, Rayner-Matthews, P, Ghataorhe, PK, Gordins, P, Stein, P, Collins, P, Dixon, P, Kelleher, P, Ancliff, P, Yu, P, Tait, RC, Linger, R, Doffinger, R, Machado, R, Kazmi, R, Sargur, R, Favier, R, Tan, R, Liesner, R, Antrobus, R, Sandford, R, Scott, R, Trembath, R, Horvath, R, Hadden, R, MackenzieRoss, RV, Henderson, R, MacLaren, R, James, R, Ghurye, R, DaCosta, R, Hague, R, Mapeta, R, Armstrong, R, Noorani, S, Murng, S, Santra, S, Tuna, S, Johnson, S, Chong, S, Lear, S, Walker, S, Goddard, S, Mangles, S, Westbury, S, Mehta, S, Hackett, S, Nejentsev, S, Moledina, S, Bibi, S, Meehan, S, Othman, S, Revel-Vilk, S, Holden, S, McGowan, S, Staines, S, Savic, S, Burns, S, Grigoriadou, S, Papadia, S, Ashford, S, Schulman, S, Ali, S, Park, S-M, Davies, S, Stock, S, Deevi, SVV, Graf, S, Ghio, S, Wort, SJ, Jolles, S, Austin, S, Welch, S, Meacham, S, Rankin, S, Seneviratne, S, Holder, S, Sivapalaratnam, S, Richardson, S, Kuijpers, T, Kuijpers, TW, Bariana, TK, Bakchoul, T, Everington, T, Renton, T, Young, T, Aitman, T, Warner, TQ, Vale, T, Hammerton, T, Pollock, V, Matser, V, Cookson, V, Clowes, V, Qasim, W, Wei, W, Erber, WN, Ouwehand, WH, Astle, W, Egner, W, Turek, W, Henskens, Y, Tan, Y, Lynch, Andy G [0000-0002-7876-7338], Apollo - University of Cambridge Repository, Medical Research Council (MRC), and British Heart Foundation

Subjects
Whole genome sequencing, 0303 health sciences, Multidisciplinary, Science & Technology, lcsh:R, lcsh:Medicine, Computational biology, Biology, Telomere, Multidisciplinary Sciences, 03 medical and health sciences, 0302 clinical medicine, NIHR BioResource - Rare Diseases, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Science & Technology - Other Topics, lcsh:Q, Ploidy, lcsh:Science, 030217 neurology & neurosurgery, 030304 developmental biology
Abstract

Correction to: Scientific Reports https://doi.org/10.1038/s41598-017-14403-y, published online 22 January 2018 The original version of this Article contained a typographical error in the spelling of the consortium member Patrick Yu-Wai-Man which was incorrectly given as Patrick Yu Wai Man. In addition, a supplementary file containing additional algorithms and analysis was omitted from the original version of this Article. These errors have now been corrected in the HTML and PDF versions of the Article.

Published
2018

29. SickKids Handbook of Pediatric Thrombosis and Hemostasis

Author

Blanchette, V.S, Brandão, L.R, Revel-Vilk, S., Breakey, V.R, Blanchette, V.S, Brandão, L.R, Revel-Vilk, S., and Breakey, V.R

Subjects
Thrombosis, Hemostasis, Infants, Pediatric hematology, Thrombosis in children, Blood--Diseases, Children
Abstract

This updated and extended edition of the SickKids Handbook takes the reader through the entire field of pediatric thrombosis and hemostasis. An introductory section concisely explains the complex pathophysiology of thrombosis and hemostasis. The chapters that follow include practical, evidence-based information on the diagnosis and management of inherited and acquired bleeding disorders and thrombotic events of the venous, arterial, cardiac and central nervous systems that affect children. Special features include practical clinical algorithms and appendices that cite normal laboratory reference ranges, as well as recommended dosages of blood products and major hemostatic agents. A stand-alone chapter is dedicated to developmental hemostasis and bleeding in the neonate. A chapter on antithrombotic therapy in children gives succinct information on the old and new anticoagulants, antiplatelet drugs and thrombolytic agents. Written and reviewed by international experts in the field, this handbook is intended for health care professionals involved in the assessment and care of children with inherited and acquired bleeding and clotting disorders, including general and specialist pediatricians (in particular intensivists, neonatologists, cardiologists/cardiac surgeons, rheumatologists and nephrologists), hematologists/oncologists (pediatric and adult), as well as medical trainees, nurses, nurse practitioners and pharmacists.

Published
2017

30. SickKids Handbook of Pediatric Thrombosis and Hemostasis : Now Available: 2nd, Revised Edition SickKids Handbook of Pediatric Thrombosis and Hemostasis

Author

Blanchette, V.S, Breakey, V.R, Revel-Vilk, S., Blanchette, V.S, Breakey, V.R, and Revel-Vilk, S.

Subjects
Hemostasis, Children, Thrombosis, Infants, Hemorrhagic diseases in children, Thrombosis in children, Anticoagulants (Medicine), Blood--Diseases
Abstract

A Karger'Publishing Highlights 1890–2015'title This handbook takes the reader through the entire field of pediatric thrombosis and hemostasis. An introductory section concisely explains the complex pathophysiology of hemostasis and thrombosis. The chapters that follow include practical, evidence-based information on the diagnosis and management of inherited and acquired bleeding disorders and thrombotic events of the venous, arterial, cardiac and central nervous systems that affect children. Special features include practical clinical algorithms and appendices that cite normal laboratory reference ranges, as well as recommended dosages of blood products and major hemostatic agents. A stand-alone chapter is dedicated to developmental hemostasis and bleeding in the neonate. A chapter on antithrombotic therapy in children gives succinct information on the old and new anticoagulants, antiplatelet drugs and thrombolytic agents. Written and reviewed by international experts in the field, this handbook is intended for health care professionals involved in the assessment and care of children with inherited and acquired bleeding and clotting disorders, including general and specialist pediatricians (in particular intensivists, neonatologists, cardiologists/cardiac surgeons, rheumatologists and nephrologists), hematologists/oncologists (pediatric and adult), as well as medical trainees, nurses, nurse practitioners and pharmacists.

Published
2013

31. Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans

Author

Schipp, C., primary, Nabhani, S., additional, Bienemann, K., additional, Simanovsky, N., additional, Kfir-Erenfeld, S., additional, Assayag-Asherie, N., additional, Oommen, P. T., additional, Revel-Vilk, S., additional, Honscheid, A., additional, Gombert, M., additional, Ginzel, S., additional, Schafer, D., additional, Laws, H.-J., additional, Yefenof, E., additional, Fleckenstein, B., additional, Borkhardt, A., additional, Stepensky, P., additional, and Fischer, U., additional

Published
2016
Full Text
View/download PDF

32. Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease

Author

Nabhani, S., primary, Ginzel, S., additional, Miskin, H., additional, Revel-Vilk, S., additional, Harlev, D., additional, Fleckenstein, B., additional, Honscheid, A., additional, Oommen, P. T., additional, Kuhlen, M., additional, Thiele, R., additional, Laws, H.-J., additional, Borkhardt, A., additional, Stepensky, P., additional, and Fischer, U., additional

Published
2015
Full Text
View/download PDF

39. Posters * Safety & Quality (I.E. Guidelines, Multiple Pregnancy, Outcome, Follow-Up etc.)

Author

Ocal, P., primary, Sahmay, S., additional, Irez, T., additional, Senol, H., additional, Cepni, I., additional, Purisa, S., additional, Lin, W., additional, Liu, X., additional, Donjacour, A., additional, Maltepe, E., additional, Rinaudo, P., additional, Baumgarten, M. N., additional, Stoop, D., additional, Haentjes, P., additional, Verheyen, G., additional, De Schrijver, F., additional, Liebaers, I., additional, Camus, M., additional, Bonduelle, M., additional, Devroey, P., additional, Nelissen, E. C. M., additional, Van Montfoort, A. P. A., additional, Coonen, E., additional, Derhaag, J. G., additional, Evers, J. L. H., additional, Dumoulin, J. C. M., additional, Costa Lopes, J. R., additional, Mendes dos Santos, J., additional, Portugal Silva Lima, S., additional, Portugal Silva Souza, S., additional, Rodrigues Pereira, T., additional, Barguil Brasileiro, J. P., additional, Pina, H., additional, Lessa, M. L., additional, Genovese Soares, M., additional, Medina Lopes, V., additional, Ribeiro, C. G., additional, Adami, K., additional, Hughes, C., additional, Emerson, G., additional, Grundy, K., additional, Kelly, P., additional, Mocanu, E., additional, Coelho Cafe, T., additional, de Souza Costa, J. B. M., additional, Zavattiero Tierno, N. I., additional, Singh, S., additional, Vitthala, S., additional, Zosmer, A., additional, Sabatini, L., additional, Tozer, A., additional, Davis, C., additional, Al-Shawaf, T., additional, Neri, Q. V., additional, Monahan, D., additional, Rosenwaks, Z., additional, Palermo, G. D., additional, Kalu, E., additional, Thum, M. Y., additional, Abdalla, H. A., additional, Sazonova, A., additional, Bergh, C., additional, Kallen, K., additional, Thurin-Kjellberg, A., additional, Wennerholm, U. B., additional, Griesinger, G., additional, Doody, K., additional, Witjes, H., additional, Mannaerts, B., additional, Tarlatzis, B., additional, Rombauts, L., additional, Heijnen, E., additional, Marintcheva-Petrova, M., additional, Elbers, J., additional, Koning, A., additional, Mutsaerts, M. A. Q., additional, Hoek, A., additional, Mol, B. W., additional, Fadini, R., additional, Guarnieri, T., additional, Mignini Renzini, M., additional, Comi, R., additional, Mastrolilli, M., additional, Villa, A., additional, Colpi, E., additional, Coticchio, G., additional, Dal Canto, M., additional, Dolleman, M., additional, Broer, S. L., additional, Opmeer, B. C., additional, Fauser, B. C., additional, Broekmans, F. J. M., additional, Alama, P., additional, Requena, A., additional, Crespo, J., additional, Munoz, M., additional, Ballesteros, A., additional, Munoz, E., additional, Fernandez, M., additional, Meseguer, M., additional, Garcia-Velasco, J. A., additional, Pellicer, A., additional, Munk, M., additional, Smidt-Jensen, S., additional, Blaabjerg, J., additional, Christoffersen, C., additional, Lenz, S., additional, Lindenberg, S., additional, Bosch, E., additional, Labarta, E., additional, Cruz, F., additional, Simon, C., additional, Remohi, J., additional, Esler, J., additional, Osborn, J., additional, Boissonnas Chalas, C., additional, Marszalek, A., additional, Fauque, P., additional, Wolf, J. P., additional, De Ziegler, D., additional, Cabanes, L., additional, Jouannet, P., additional, Han, A. R., additional, Park, C. W., additional, Cha, S. W., additional, Kim, H. O., additional, Yang, K. M., additional, Kim, J. Y., additional, Song, I. O., additional, Koong, M. K., additional, Kang, I. S., additional, Roszaman, R., additional, Omar, M. H., additional, Nazri, Y., additional, Azantee, Y. W., additional, Murad, A. Z., additional, Zainulrashid, M. R., additional, Wang, N., additional, Le, F., additional, Wang, L. Y., additional, Ding, G. L., additional, Sheng, J. Z., additional, Huang, H. F., additional, Jin, F., additional, Reinblatt, S., additional, Holzer, H., additional, Son, W. Y., additional, Shalom-Paz, E., additional, Chian, R. C., additional, Buckett, W., additional, Dahan, M., additional, Demirtas, E., additional, Tan, S. L., additional, Revel, A., additional, Schejter-Dinur, Y., additional, Revel-Vilk, S., additional, Hermens, R. P. M. G., additional, van den Boogaard, E., additional, Leschot, N. J., additional, Vollebergh, J. H. A., additional, Bernardus, R., additional, Kremer, J. A. M., additional, van der Veen, F., additional, Goddijn, M., additional, Nahuis, M. J., additional, Kose, N., additional, Bayram, N., additional, Hompes, P. G. A., additional, Mol, B. W. J., additional, van der veen, F., additional, van Wely, M., additional, Van Disseldorp, J., additional, Dolleman, M. D., additional, Broeze, K., additional, De Rycke, M., additional, Petrussa, L., additional, Van de Velde, H., additional, Cerrillo, M., additional, Pacheco, A., additional, Rodriguez, S., additional, Gomez, R., additional, Delagado, F., additional, Garcia Velasco, J. A., additional, Desmyttere, S., additional, Verpoest, W., additional, Staessen, C., additional, De Vos, A., additional, Kohls, G., additional, Ruiz, F. J., additional, De la Fuente, G., additional, Toribio, M., additional, Martinez, M., additional, Soderstrom - Anttila, V., additional, Salevaara, M., additional, Suikkari, A. M., additional, Clua, E., additional, Tur, R., additional, Alcaniz, N., additional, Boada, M., additional, Rodriguez, I., additional, Barri, P. N., additional, Veiga, A., additional, Nelen, W. L. D. M., additional, Van Empel, I. W. H., additional, Cohlen, B. J., additional, Laven, J. S., additional, Aarts, J. W. M., additional, Ricciarelli, E., additional, Gomez-Palomares, J. L., additional, Andres-Criado, L., additional, Hernandez, E. R., additional, Courbiere, B., additional, Aye, M., additional, Perrin, J., additional, Di Giorgio, C., additional, De Meo, M., additional, Botta, A., additional, Castilla Alcala, J., additional, Luceno Maestre, F., additional, Cabello, Y., additional, Hernandez, J., additional, Marqueta, J., additional, Pareja, A., additional, Hernandez, E., additional, Coroleu, B., additional, Helmgaard, L., additional, Klein, B. M., additional, Arce, J. C., additional, van Empel, I. W. H., additional, Boivin, J., additional, Verhaak, C. M., additional, Ding, G., additional, Yin, R., additional, Sheng, J., additional, Huang, H., additional, Mancini, F., additional, Gomez, M. J., additional, van den Boogaard, N. M., additional, van der Steeg, J. W., additional, Hompes, P., additional, Boyer, P., additional, Gervoise-Boyer, M., additional, Meddeb, L., additional, Rossin, B., additional, Audibert, F., additional, Sakian, S., additional, Chan Wong, E., additional, Ma, S., additional, Pathak, R., additional, Mustafa, M. D., additional, Ahmed, R. S., additional, Tripathi, A. K., additional, Guleria, K., additional, Banerjee, B. D., additional, Vela, G., additional, Luna, M., additional, Flisser, E. D., additional, Sandler, B., additional, Brodman, M., additional, Grunfeld, L., additional, Copperman, A. B., additional, Baronio, M., additional, Carrascosa, P., additional, Capunay, C., additional, Vallejos, J., additional, Papier, S., additional, Borghi, M., additional, Sueldo, C., additional, Carrascosa, J., additional, Martin Lopez, E., additional, Marcucci, A., additional, Marcucci, I., additional, Salacone, P., additional, Sebastianelli, A., additional, Caponecchia, L., additional, Pacini, N., additional, Rago, R., additional, Alvarez, M., additional, Carreras, O., additional, Arnoldi, M., additional, Diaferia, D., additional, Corbucci, M. G., additional, De Lauretis, L., additional, Kook, M. J., additional, Jung, J. Y., additional, Lee, J. H., additional, Jung, Y. J., additional, Hwang, H. K., additional, Kang, A., additional, An, S. J., additional, Kim, H. M., additional, Kwon, H. C., additional, Lee, S. J., additional, Satoh, M., additional, Imada, J., additional, Ito, K., additional, Migishima, F., additional, Inoue, T., additional, Ohnishi, Y., additional, Kawato, H., additional, Nakaoka, Y., additional, Fukuda, A., additional, Morimoto, Y., additional, Mourad, S., additional, Grol, R. P. T. M., additional, Polyzos, N. P., additional, Valachis, A., additional, Patavoukas, E., additional, Papanikolaou, E. G., additional, Messinis, I. E., additional, Tarlatzis, B. C., additional, Kang, H., additional, Kim, C. H., additional, Park, E., additional, Kim, S., additional, Chae, H. D., additional, Kang, B. M., additional, Jung, K. S., additional, Song, H. J., additional, Ahn, Y. S., additional, Petkova, L., additional, Canov, I., additional, Milachich, T., additional, Shterev, A., additional, Patrat, C., additional, Pocate, K., additional, Juillard, J. C., additional, Gayet, V., additional, Blanchet, V., additional, de Ziegler, D., additional, van der, J. W., additional, Leushuis, E., additional, Steures, P., additional, Koks, C., additional, Oosterhuis, J., additional, Bourdrez, P., additional, and Bossuyt, P. M., additional

Published
2010
Full Text
View/download PDF

45. The clinical course of bronchiolitis associated with acute otitis media.

Author

Shazberg G, Revel-Vilk S, Shoseyov D, Ben-Ami A, Klar A, Hurvitz H, Shazberg, G, Revel-Vilk, S, Shoseyov, D, Ben-Ami, A, Klar, A, and Hurvitz, H

Abstract

Background: Acute otitis media (AOM) is the most common bacterial co-infection of viral bronchiolitis.Aims: To evaluate the influence of AOM on the clinical course of bronchiolitis.Subjects: 150 children younger than 24 months old, diagnosed with bronchiolitis, hospitalised between December 1997 and May 1999.Methods: Body temperature, respiratory rate, oxygen saturation, and the need for oxygen supplementation were recorded on admission and daily throughout hospitalisation. Complete blood count, erythrocyte sedimentation rate, and assay for respiratory syncytial virus were performed on admission. All children were examined daily for the appearance of AOM. The clinical course of children with bronchiolitis and AOM was compared to those without AOM.Results: AOM was diagnosed in 79/150 (53%) children with bronchiolitis. Most were diagnosed within the first two days of hospitalisation. No significant difference was found in the clinical and laboratory findings on admission and on daily follow up between children with and without AOM.Conclusions: This 2.5 year prospective study showed no difference in the course of bronchiolitis, whether an ear infection was present or not. [ABSTRACT FROM AUTHOR]

Published
2000
Full Text
View/download PDF

46. Serum transferrin receptor in children and adolescents with inflammatory bowel disease.

Author

Revel-Vilk, Shoshana, Tamary, Hannah, Broide, Efrat, Zoldan, Meira, Dinari, Gabriel, Zahavi, Ilan, Yaniv, Issac, Shamir, Raanan, Revel-Vilk, S, Tamary, H, Broide, E, Zoldan, M, Dinari, G, Zahavi, I, Yaniv, I, and Shamir, R

Subjects
INFLAMMATORY bowel diseases, IRON deficiency diseases, SERUM, HEMOGLOBINS, TRANSFERRIN, IRON deficiency anemia diagnosis, ERYTHROCYTES, AGE distribution, ANALYSIS of variance, BLOOD testing, CELL receptors, CHRONIC diseases, COMPARATIVE studies, DIFFERENTIAL diagnosis, FERRITIN, IRON, IRON deficiency anemia, RESEARCH methodology, MEDICAL cooperation, RESEARCH, EVALUATION research, CASE-control method, BLOOD, DISEASE complications
Abstract

Unlabelled: Iron studies are difficult to interpret in patients with chronic inflammatory states such as inflammatory bowel disease (IBD). Serum transferrin receptor (TfR) has been reported to be a reliable tool for the diagnosis of iron deficiency in adults. Our aim was to evaluate the role of serum TfR in diagnosing iron deficiency in children and adolescents with IBD. A total of 63 consecutive patients with IBD, aged 9 to 22 years (median 15 years), were tested for serum haemoglobin level, mean corpuscular volume (MCV), and serum iron, transferrin, ferritin and serum TfR levels. Those found to be anaemic were compared with seven age-matched subjects with iron deficiency anaemia (IDA) and 24 age-matched children without signs of anaemia or inflammation. Of the 63 patients with IBD, 26 had anaemia. Based on ferritin levels and MCV indices, anaemia was classified as IDA in 11 patients and as anaemia of chronic disease (ACD) in 15 patients. Mean serum TfR level in normal controls was 3.5 mg/l (range 1.2-8.2 mg/l). Mean (+/-SD) serum TfR levels were significantly lower in the IBD patients with ACD (5.3 +/- 2.3 mg/l) than in the IBD patients with IDA (8.2 +/- 3.1 mg/l) (P < 0.05). Serum TfR levels above 5 mg/l identified 10/11 IBD patients with IDA. The calculated TfR/ferritin ratio was 84 (range 17-367) for controls and 133 (range 6.4-1840) for IBD patients. A cut-off level of 350 (91% sensitivity, 100% specificity, 100% positive predictive value, 98% negative predictive value) was established for the diagnosis of IDA in IBD.Conclusion: The results suggest that serum transferrin receptor is a useful parameter for the diagnosis of iron deficiency in inflammatory bowel disease, in particular, the transferrin receptor/ferritin ratio with a cut-off level > or = 350. [ABSTRACT FROM AUTHOR]

Published
2000
Full Text
View/download PDF

49. A machine learning model for early diagnosis of type 1 Gaucher disease using real-life data.

Author

Tenenbaum A, Revel-Vilk S, Gazit S, Roimi M, Gill A, Gilboa D, Paltiel O, Manor O, Shalev V, and Chodick G

Abstract

Objective: The diagnosis of Gaucher disease (GD) presents a major challenge due to the high variability and low specificity of its clinical characteristics, along with limited physician awareness of the disease's early symptoms. Early and accurate diagnosis is important to enable effective treatment decisions, prevent unnecessary testing, and facilitate genetic counseling. This study aimed to develop a machine learning (ML) model for GD screening and GD early diagnosis based on real-world clinical data using the Maccabi Healthcare Services (MHS) electronic database, which contains twenty years of longitudinal data on approximately 2.6 million patients., Study Design and Setting: We screened the MHS database for patients with GD between January 1998 and May 2022. Eligible controls were matched by year of birth, sex, and socioeconomic status in a 1:13 ratio. The data were partitioned into 75% training and 25% test sets and trained to predict GD using features obtained from medical and laboratory records. Model performances were evaluated using the area-under-the receiver-operating-characteristic curve (AUROC) and the area-under-the-precision-recall curve (AUPRC)., Results: We detected 264 confirmed patients with GD to which we matched 3429 controls. The best model performance (which included known GD signs and symptoms, previously unknown clinical features, and administrative codes) on the test set had an AUROC = 0.95 ± 0.03 and AUPRC = 0.80 ± 0.08, which yielded a median GD identification of 2.78 years earlier than the clinical diagnosis (25 th -75 th percentile: 1.29-4.53)., Conclusions: Using an ML approach on real-world data led to excellent discrimination between GD patients and controls, with the ability to detect GD significantly earlier than the time of actual diagnosis. Hence, this approach might be useful as a screening tool for GD and lead to earlier diagnosis and treatment. Furthermore, advanced ML analytics may highlight previously unrecognized features associated with GD, including clinical diagnoses and health-seeking behaviors., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Published
2024
Full Text
View/download PDF

50. Epidemiology of clinically unsuspected venous thromboembolism in children with cancer: A population-based study from Maritimes, Canada.

Author

Ells B, Forbrigger Z, Khan N, Sharathkumar A, Revel-Vilk S, Goldenberg NA, and Kulkarni K

Subjects
Humans, Child, Female, Male, Child, Preschool, Adolescent, Infant, Infant, Newborn, Prevalence, Retrospective Studies, Follow-Up Studies, Canada epidemiology, Prognosis, Nova Scotia epidemiology, Venous Thromboembolism epidemiology, Venous Thromboembolism etiology, Neoplasms complications, Neoplasms epidemiology
Abstract

Inconsistencies in the definition of clinically unsuspected venous thromboembolism (VTE) in pediatric patients recently led to the recommendation of standardizing this terminology. Clinically unsuspected VTE (cuVTE) is defined as the presence of VTE on diagnostic imaging performed for indications unrelated to VTE in a patient without symptoms or clinical history of VTE. The prevalence of cuVTE in pediatric cancer patients is unclear. Therefore, the main objective of our study was to determine the prevalence of cuVTE in pediatric cancer patients. All patients 0-18 years old, treated at the IWK in Halifax, Nova Scotia, from August 2005 through December 2019 with a known cancer diagnosis and at least one imaging study were eligible (n = 743). All radiology reports available for these patients were reviewed (n = 18,120). The VTE event was labeled a priori as cuVTE event for radiology reports that included descriptive texts indicating a diagnosis of thrombosis including thrombus, central venous catheter-related, thrombosed aneurysm, tumor thrombosis, non-occlusive thrombus, intraluminal filling defect, or small fragment clot for patients without documentation of clinical history and or signs of VTE. A total of 18,120 radiology reports were included in the review. The prevalence of cuVTE was 5.5% (41/743). Echocardiography and computed tomography had the highest rate of cuVTE detection, and the most common terminologies used to diagnose cuVTE were thrombus and non-occlusive thrombus. The diagnosis of cuVTE was not associated with age, sex, and type of cancer. Future efforts should focus on streamlining radiology reports to characterize thrombi. The clinical significance of these cuVTE findings and their application to management, post-thrombotic syndrome, and survival compared to cases with symptomatic VTE and patients without VTE should be further studied., (© 2024 Wiley Periodicals LLC.)

Published
2024
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results