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3. 406 Prognostic relevance of the molecular endometrial cancer classification among patients staged by lymphadenectomy and/or without adjuvant treatment

Author

Leon-Castillo, A, primary, Horeweg, N, additional, Peters, E, additional, Rutten, T, additional, Ter Haar, N, additional, Smit, V, additional, Boennelycke, M, additional, Høgdall, E, additional, Høgdall, C, additional, Nout, R, additional, Creutzberg, CL, additional, Ortoft, G, additional, and Bosse, T, additional

Published
2021
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5. How autoinflammation may turn into autoimmune inflammation: Insights from monogenetic and complex IL-1 mediated auto-inflammatory diseases

Author

Child Health, Infection & Immunity, Genetica Klinische Genetica, Arts-assistenten Kinderen, CTI Van Loosdregt, Immuno/reuma onderzoek 5 (Vastert2), ter Haar, N. M., Jansen, M. H.A., Frenkel, J. F., Vastert, S. J., Child Health, Infection & Immunity, Genetica Klinische Genetica, Arts-assistenten Kinderen, CTI Van Loosdregt, Immuno/reuma onderzoek 5 (Vastert2), ter Haar, N. M., Jansen, M. H.A., Frenkel, J. F., and Vastert, S. J.

Published
2020

9. The safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade: an international survey

Author

Jeyaratnam, J, ter Haar, N, Lachmann, H, Kasapcopur, O, Ombrello, Ak, Rigante, D, Dedeoglu, F, Baris, Eh, Vastert, Sj, Wulffraat, Nm, Frenkel, J, Rigante D (ORCID:0000-0001-7032-7779), Jeyaratnam, J, ter Haar, N, Lachmann, H, Kasapcopur, O, Ombrello, Ak, Rigante, D, Dedeoglu, F, Baris, Eh, Vastert, Sj, Wulffraat, Nm, Frenkel, J, and Rigante D (ORCID:0000-0001-7032-7779)

Abstract

Background: Withholding live-attenuated vaccines in patients using interleukin (IL)-1 or IL-6 blocking agents is recommended by guidelines for both pediatric and adult rheumatic diseases, since there is a risk of infection in an immune suppressed host. However, this has never been studied. This retrospective, multicenter survey aimed to evaluate the safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade. Methods: We contacted physicians involved in the treatment of autoinflammatory diseases to investigate potential cases. Patients were included if a live-attenuated vaccine had been administered while they were on IL-1 or IL-6 blockade. Results: Seventeen patients were included in this survey (7 systemic juvenile idiopathic arthritis (sJIA), 5 cryopyrin associated periodic syndrome (CAPS), 4 mevalonate kinase deficiency (MKD) and 1 familial Mediterranean fever (FMF). Three patients experienced an adverse event, of which two were serious adverse events (a varicella zoster infection after varicella zoster booster vaccination, and a pneumonia after MMR booster). One additional patient had diarrhea after oral polio vaccine. Further, seven patients experienced a flare of their disease, which were generally mild. Eight patients did not experience an adverse event or a flare. Conclusion: We have described a case series of seventeen patients who received a live-attenuated vaccine while using IL-1 or IL-6 blocking medication. The findings of this survey are not a reason to adapt the existing guidelines. Prospective trials are needed in order to acquire more evidence about the safety and efficacy before considering adaptation of guidelines.

Published
2018

13. Development of the Autoinflammatory Disease Damage Index (ADDI)

Author

Annink, K, ter Haar, N, Al Mayouf, S, Amaryan, G, Anton, J, Barron, K, Benseler, S, Brogan, P, Cantarini, L, Cattalini, M, Cochino, A, De Benedetti, F, Dedeoglu, F, De Jesus, A, Dellacasa, O, Demirkaya, E, Dolezalova, P, Durrant, K, Fabio, G, Gallizzi, R, Goldbach Mansky, R, Hachulla, E, Hentgen, V, Herlin, T, Hofer, M, Hoffman, H, Jansson, A, Kallinich, T, Koné Paut, I, Kozlova, A, Kuemmerle Deschner, J, Lachmann, H, Laxer, R, Martini, A, Nielsen, S, Nikishina, I, Ombrello, A, Ozen, S, Papadopoulou Alataki, E, Quartier, P, Ravelli, A, Rigante, Donato, Russo, R, Simon, A, Trachana, M, Uziel, Y, Gattorno, M, Frenkel, J., Rigante, Donato (ORCID:0000-0001-7032-7779), Annink, K, ter Haar, N, Al Mayouf, S, Amaryan, G, Anton, J, Barron, K, Benseler, S, Brogan, P, Cantarini, L, Cattalini, M, Cochino, A, De Benedetti, F, Dedeoglu, F, De Jesus, A, Dellacasa, O, Demirkaya, E, Dolezalova, P, Durrant, K, Fabio, G, Gallizzi, R, Goldbach Mansky, R, Hachulla, E, Hentgen, V, Herlin, T, Hofer, M, Hoffman, H, Jansson, A, Kallinich, T, Koné Paut, I, Kozlova, A, Kuemmerle Deschner, J, Lachmann, H, Laxer, R, Martini, A, Nielsen, S, Nikishina, I, Ombrello, A, Ozen, S, Papadopoulou Alataki, E, Quartier, P, Ravelli, A, Rigante, Donato, Russo, R, Simon, A, Trachana, M, Uziel, Y, Gattorno, M, Frenkel, J., and Rigante, Donato (ORCID:0000-0001-7032-7779)

Abstract

This is an international consensus-baseed instrument to measure damage caused by hereditary autoinflammatory diseases.

Published
2017

14. Development of the autoinflammatory diseases damage index (ADDI)

Author

ter Haar, N., Annink, K., Al Mayouf, S., Amaryan, G., Anton, J., Barron, K. s., Benseler, S. m., Brogan, P. a., Cantarini, L., Cattalini, M., Cochino, A. v., De Benedetti, F., Dedeoglu, F., De Jesus, A. a., Della Casa Alberighi, O., Demirkaya, E., Dolezalova, P., Durrant, K. l., Fabio, G., Gallizzi, R., Goldbach Mansky, R., Hachulla, E., Hentgen, V., Herlin, T., Hofer, M., Hoffman, H. m., Insalaco, A., Jansson, A. f., Kallinich, T., Koné Paut, I., Kozlova, A., Kuemmerle Deschner, J. b., Lachmann, H. j., Laxer, R. m., Martini, A., Nielsen, S., Nikishina, I., Ombrello, A. k., Ozen, S., Papadopoulou Alataki, E., Quartier, P., Rigante, Donato, Russo, R., Simon, A., Trachana, M., Uziel, Y., Ravelli, A., Gattorno, M., Frenkel, J., Rigante, Donato (ORCID:0000-0001-7032-7779), ter Haar, N., Annink, K., Al Mayouf, S., Amaryan, G., Anton, J., Barron, K. s., Benseler, S. m., Brogan, P. a., Cantarini, L., Cattalini, M., Cochino, A. v., De Benedetti, F., Dedeoglu, F., De Jesus, A. a., Della Casa Alberighi, O., Demirkaya, E., Dolezalova, P., Durrant, K. l., Fabio, G., Gallizzi, R., Goldbach Mansky, R., Hachulla, E., Hentgen, V., Herlin, T., Hofer, M., Hoffman, H. m., Insalaco, A., Jansson, A. f., Kallinich, T., Koné Paut, I., Kozlova, A., Kuemmerle Deschner, J. b., Lachmann, H. j., Laxer, R. m., Martini, A., Nielsen, S., Nikishina, I., Ombrello, A. k., Ozen, S., Papadopoulou Alataki, E., Quartier, P., Rigante, Donato, Russo, R., Simon, A., Trachana, M., Uziel, Y., Ravelli, A., Gattorno, M., Frenkel, J., and Rigante, Donato (ORCID:0000-0001-7032-7779)

Abstract

OBJECTIVES: Autoinflammatory diseases cause systemic inflammation that can result in damage to multiple organs. A validated instrument is essential to quantify damage in individual patients and to compare disease outcomes in clinical studies. Currently, there is no such tool. Our objective was to develop a common autoinflammatory disease damage index (ADDI) for familial Mediterranean fever, cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic fever syndrome and mevalonate kinase deficiency. METHODS: We developed the ADDI by consensus building. The top 40 enrollers of patients in the Eurofever Registry and 9 experts from the Americas participated in multiple rounds of online surveys to select items and definitions. Further, 22 (parents of) patients rated damage items and suggested new items. A consensus meeting was held to refine the items and definitions, which were then formally weighted in a scoring system derived using decision-making software, known as 1000minds. RESULTS: More than 80% of the experts and patients completed the online surveys. The preliminary ADDI contains 18 items, categorised in the following eight organ systems: reproductive, renal/amyloidosis, developmental, serosal, neurological, ears, ocular and musculoskeletal damage. The categories renal/amyloidosis and neurological damage were assigned the highest number of points, serosal damage the lowest number of points. The involvement of (parents of) patients resulted in the inclusion of, for example, chronic musculoskeletal pain. CONCLUSIONS: An instrument to measure damage caused by autoinflammatory diseases is developed based on consensus building. Patients fulfilled a significant role in this process.

Published
2017

15. Development of the autoinflammatory disease damage index (ADDI)

Author

The EUROFEVER participants, Annink, K, ter Haar, N, Gattorno, M, Lachmann, H, Kuemmerle-Deschner, J, Ozen, Seza, Goldbach-Mansky, R, Durrant, K, Alberighi, O Della Casa, Frenkel, J, and Çocuk Sağlığı ve Hastalıkları

Subjects
medicine.medical_specialty, Pathology, Mevalonate kinase deficiency, business.industry, Cryopyrin-associated periodic syndrome, Familial Mediterranean fever, Inflammation, Context (language use), medicine.disease, Systemic inflammation, Rheumatology, Internal medicine, Poster Presentation, Pediatrics, Perinatology and Child Health, Immunology, medicine, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, Autoinflammatory disease, medicine.symptom, business
Abstract

Autoinflammatory diseases cause systemic inflammation which can result in damage to multiple organs. Organ damage can occur before the start of therapy, or when patients experience ongoing inflammation. A validated instrument to measure damage is essential to quantify damage in individual patients, and to compare disease outcomes in clinical studies. At this moment, there is no such instrument. In the context of the RaDiCEA project, a common damage index for Familial Mediterranean Fever (FMF), Cryopyrin Associated Periodic Syndromes (CAPS), Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) and Mevalonate Kinase Deficiency (MKD) will be developed.

Published
2015
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16. Incidence Changes of Human Papillomavirus in Oropharyngeal Squamous Cell Carcinoma and Effects on Survival in the Netherlands Cancer Institute, 1980-2009

Author

Henneman, R., Monsjou, H. S., Verhagen, C. V. M., Marie-Louise van Velthuysen, Ter Haar, N. T., Osse, E. M., Lopez-Yurda, M. I., Balm, A. J. M., Den Brekel, M. W. M., and ACLC (FGw)

Subjects
Head and neck squamous cell carcinoma, oropharynx, human papillomavirus, HNSCC, survival, HPV incidence, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
Abstract

Item does not contain fulltext AIM: Human papillomavirus (HPV) is a risk factor for oropharyngeal squamous cell carcinoma (OPSCC), with an increasing incidence. The present study aimed to determine the changing incidence of HPV in patients with OPSCC in the period 1980-2009 and its influence on survival. PATIENTS AND METHODS: We randomly sampled 158 patients from a cohort of 828 patients with OPSCC stratified by decade (1980-1989, 1990-1999, 2000-2009). Formalin-fixed paraffin-embedded material was tested for HPV DNA by SPF-10 polymerase chain reaction (PCR) and immunohistochemically stained for p16 and p53. RESULTS: DNA from 146 patients was suitable for HPV detection. HPV DNA was detected in 13/47 (28%), 18/47 (38%), and 20/52 (38%) patients in the cohorts of 1980-1989, 1990-1999, and 2000-2009, respectively (p-value for trend=0.269). Lack of further increase during the most recent decade is inconsistent with the rising incidence and higher prevalence reported in other Western countries. Patients with HPV-positive OPSCC had a better survival in spite of higher tumor stage.

Published
2015

17. The phenotype and genotype of mevalonate kinase deficiency: a series of 114 cases from the Eurofever Registry

Author

ter Haar, N. m., Jeyaratnam, J., Lachmann, H. j., Simon, A., Brogan, P. a., Doglio, M., Cattalini, M., Anton, J., Modesto, C., Quartier, P., Hoppenreijs, E., Martino, S., Insalaco, A., Cantarini, L., Lepore, L., Alessio, M., Calvo Penades, I., Boros, C., Consolini, R., Rigante, Donato, Russo, R., Pachlopnik Schmid, J., Lane, T., Martini, A., Ruperto, N., Frenkel, J., Gattorno, M., Rigante, Donato (ORCID:0000-0001-7032-7779), ter Haar, N. m., Jeyaratnam, J., Lachmann, H. j., Simon, A., Brogan, P. a., Doglio, M., Cattalini, M., Anton, J., Modesto, C., Quartier, P., Hoppenreijs, E., Martino, S., Insalaco, A., Cantarini, L., Lepore, L., Alessio, M., Calvo Penades, I., Boros, C., Consolini, R., Rigante, Donato, Russo, R., Pachlopnik Schmid, J., Lane, T., Martini, A., Ruperto, N., Frenkel, J., Gattorno, M., and Rigante, Donato (ORCID:0000-0001-7032-7779)

Abstract

OBJECTIVE: Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe the genotype, phenotype, and response to treatment in an international cohort of MKD patients. METHODS: All MKD cases were extracted from the Eurofever registry (Executive Agency for Health and Consumers project no. 2007332), an international, multicenter registry that retrospectively collects data on children and adults with autoinflammatory diseases. RESULTS: The study included 114 MKD patients. The median age at onset was 0.5 years. Patients had on average 12 episodes per year. Most patients had gastrointestinal symptoms (n = 112), mucocutaneous involvement (n = 99), lymphadenopathy (n = 102), or musculoskeletal symptoms (n = 89). Neurologic symptoms included headache (n = 43), cerebellar syndrome (n = 2), and mental retardation (n = 4). AA amyloidosis was noted in 5 patients, almost twice as many as expected from findings in previous cohorts. Macrophage activation syndrome occurred in 1 patient. Patients were generally well between attacks, but 10-20% of the patients had constitutional symptoms, such as fatigue, between fever episodes. Patients with p.V377I/p.I268T compound heterozygosity had AA amyloidosis significantly more often. Patients without a p.V377I mutation more often had severe musculoskeletal involvement. Treatment with nonsteroidal antiinflammatory drugs relieved symptoms. Steroids given during attacks, anakinra, and etanercept appeared to improve symptoms and could induce complete remission in patients with MKD. CONCLUSION: We describe the clinical and genetic characteristics of 114 MKD patients, which is the largest cohort studied so far. The clinical manifestations confirm earlier reports. However, the prevalence of AA amyloidosis is far higher than expected.

Published
2016

18. Recommendations for the management of autoinflammatory diseases

Author

ter Haar, N., Oswald, M., Jeyaratnam, J., Anton, J., Barron, K., Brogan, P., Cantarini, L., Galeotti, C., Grateau, G., Hentgen, V., Hofer, M., Kallinich, T., Kone-Paut, I., Lachmann, H., Ozdogan, H., Ozen, S., Russo, R., Simon, A., Uziel, Y., Wouters, C., Feldman, B., Vastert, B., Wulffraat, N., Benseler, S., Frenkel, J., Gattorno, M., Kuemmerle-Deschner, J., ter Haar, N., Oswald, M., Jeyaratnam, J., Anton, J., Barron, K., Brogan, P., Cantarini, L., Galeotti, C., Grateau, G., Hentgen, V., Hofer, M., Kallinich, T., Kone-Paut, I., Lachmann, H., Ozdogan, H., Ozen, S., Russo, R., Simon, A., Uziel, Y., Wouters, C., Feldman, B., Vastert, B., Wulffraat, N., Benseler, S., Frenkel, J., Gattorno, M., and Kuemmerle-Deschner, J.

Published
2015

22. Genetic and phenotypic characteristics of 114 patients with mevalonate kinase deficiency

Author

Poli Van Creveldkliniek Medisch, CTI Vastert, Infection & Immunity, Child Health, Arts-assistenten Kinderen, Jeyaratnam, J., ter Haar, N., Lachmann, H., Simon, A., Brogan, P., Doglio, M., Cattalini, M., Anton, J., Modesto, C., Quartier, P., Frenkel, J., Gattorno, M., Poli Van Creveldkliniek Medisch, CTI Vastert, Infection & Immunity, Child Health, Arts-assistenten Kinderen, Jeyaratnam, J., ter Haar, N., Lachmann, H., Simon, A., Brogan, P., Doglio, M., Cattalini, M., Anton, J., Modesto, C., Quartier, P., Frenkel, J., and Gattorno, M.

Published
2015

23. Recommendations for the management of autoinflammatory diseases

Author

CTI Vastert, Infection & Immunity, Child Health, Poli Van Creveldkliniek Medisch, Reumatologie patientenzorg, Immuno/reuma onderzoek 1 (Vastert), Cluster B, Regenerative Medicine and Stem Cells, Immuno/reuma patientenzorg, Arts-assistenten Kinderen, ter Haar, N., Oswald, M., Jeyaratnam, J., Anton, J., Barron, K., Brogan, P., Cantarini, L., Galeotti, C., Grateau, G., Hentgen, V., Hofer, M., Kallinich, T., Kone-Paut, I., Lachmann, H., Ozdogan, H., Ozen, S., Russo, R., Simon, A., Uziel, Y., Wouters, C., Feldman, B., Vastert, B., Wulffraat, N., Benseler, S., Frenkel, J., Gattorno, M., Kuemmerle-Deschner, J., CTI Vastert, Infection & Immunity, Child Health, Poli Van Creveldkliniek Medisch, Reumatologie patientenzorg, Immuno/reuma onderzoek 1 (Vastert), Cluster B, Regenerative Medicine and Stem Cells, Immuno/reuma patientenzorg, Arts-assistenten Kinderen, ter Haar, N., Oswald, M., Jeyaratnam, J., Anton, J., Barron, K., Brogan, P., Cantarini, L., Galeotti, C., Grateau, G., Hentgen, V., Hofer, M., Kallinich, T., Kone-Paut, I., Lachmann, H., Ozdogan, H., Ozen, S., Russo, R., Simon, A., Uziel, Y., Wouters, C., Feldman, B., Vastert, B., Wulffraat, N., Benseler, S., Frenkel, J., Gattorno, M., and Kuemmerle-Deschner, J.

Published
2015

24. Monocytes and neutrophils in the inflammatory cascade of systemic onset Juvenile Idiopathic Arthritis

Author

CTI Education, CTI Vastert, Infection & Immunity, Child Health, Reumatologie onderzoek 2, Zorgeenheid Traumatologie, Experimentele Afdeling Longziekten, Reumatologie patientenzorg, Immuno/reuma onderzoek 1 (Vastert), CTI Van Loosdregt, ter Haar, N., de Jager, W., Scholman, R., Leliefeld, P., Tak, T., Vastert, B., de Roock, S., CTI Education, CTI Vastert, Infection & Immunity, Child Health, Reumatologie onderzoek 2, Zorgeenheid Traumatologie, Experimentele Afdeling Longziekten, Reumatologie patientenzorg, Immuno/reuma onderzoek 1 (Vastert), CTI Van Loosdregt, ter Haar, N., de Jager, W., Scholman, R., Leliefeld, P., Tak, T., Vastert, B., and de Roock, S.

Published
2015

25. Treatment of autoinflammatory diseases: results from the Eurofeverregistry and a literature review

Author

Ter Haar, N, Lachmann, Helen, Özen, Seza, Woo, Pat, Uziel, Yusef, Modesto, C, Kone-Paut, I, Cantarini, L, Insalaco, A, Neven, B, Hofer, M, Rigante, D, Al-Mayouf, S, Touitou, I, Gallizzi, R, Papadopoulou-Alataki, E, Martino, S, Kuemmerle-Deschner, J, Obici, L, Iagaru, N, Simon, A, Herlin, Troels, Nielsen, Susan, Martini, A, Ruperto, N, Gattorno, Marco, and Frenkel, J

Published
2013

29. Recommendations for the management of autoinflammatory diseases

Author

ter Haar, N, primary, Oswald, M, additional, Jeyaratnam, J, additional, Anton, J, additional, Barron, K, additional, Brogan, P, additional, Cantarini, L, additional, Galeotti, C, additional, Grateau, G, additional, Hentgen, V, additional, Hofer, M, additional, Kallinich, T, additional, Kone-Paut, I, additional, Lachmann, H, additional, Ozdogan, H, additional, Ozen, S, additional, Russo, R, additional, Simon, A, additional, Uziel, Y, additional, Wouters, C, additional, Feldman, B, additional, Vastert, B, additional, Wulffraat, N, additional, Benseler, S, additional, Frenkel, J, additional, Gattorno, M, additional, and Kuemmerle-Deschner, J, additional

Published
2015
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31. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

Author

Ter Haar, N, Lachmann, H, Özen, S, Woo, P, Uziel, Y, Modesto, C, Koné Paut, I, Cantarini, L, Insalaco, A, Neven, B, Hofer, M, Rigante, D, Al Mayouf, S, Touitou, I, Gallizzi, R, Papadopoulou Alataki, E, Martino, S, Kuemmerle Deschner, J, Obici, L, Iagaru, N, Simon, A, Martini, A, Manna, Raffaele, Ruperto, N, Gattorno, M, Frenkel, J., Manna, Raffaele (ORCID:0000-0003-1560-3907), Ter Haar, N, Lachmann, H, Özen, S, Woo, P, Uziel, Y, Modesto, C, Koné Paut, I, Cantarini, L, Insalaco, A, Neven, B, Hofer, M, Rigante, D, Al Mayouf, S, Touitou, I, Gallizzi, R, Papadopoulou Alataki, E, Martino, S, Kuemmerle Deschner, J, Obici, L, Iagaru, N, Simon, A, Martini, A, Manna, Raffaele, Ruperto, N, Gattorno, M, Frenkel, J., and Manna, Raffaele (ORCID:0000-0003-1560-3907)

Abstract

To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review.

Published
2013

33. PReS-FINAL-2335: Preliminary analysis of 85 patients with mevalonate kinase deficiency from the eurofever registry

Author

Ter Haar, N, primary, Lachmann, H, additional, Woo, P, additional, Simon, A, additional, Meini, A, additional, Dolezalova, P, additional, Modesto, C, additional, Stojanov, S, additional, Bader-Meunier, B, additional, Insalaco, A, additional, Hoppenreijs, E, additional, Gallo, E, additional, Ruperto, N, additional, Frenkel, J, additional, and Gattorno, M, additional

Published
2013
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37. High frequency of copy-neutral LOH inMUTYH-associated polyposis carcinomas

Author

Middeldorp, A, primary, van Puijenbroek, M, additional, Nielsen, M, additional, Corver, WE, additional, Jordanova, ES, additional, ter Haar, N, additional, Tops, CMJ, additional, Vasen, HFA, additional, Lips, EH, additional, van Eijk, R, additional, Hes, FJ, additional, Oosting, J, additional, Wijnen, J, additional, van Wezel, T, additional, and Morreau, H, additional

Published
2008
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47. The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry

Author

Haar, N. Ter, Jeyaratnam, J., Lachmann, H.J., Simon, A., Brogan, P.A., Doglio, M., Cattalini, M., Anton, J., Modesto, C., Quartier, P., Hoppenreijs, E.P., Martino, S., Insalaco, A., Cantarini, L., Lepore, L., Alessio, M., Calvo Penades, I., Boros, C., Consolini, R., Rigante, D., Russo, R., Pachlopnik Schmid, J., Lane, T., Martini, A., Ruperto, N., Frenkel, J., Gattorno, M., ter Haar, N. M., Jeyaratnam, J., Lachmann, H. J., Simon, A., Brogan, P. A., Doglio, M., Cattalini, M., Anton, J., Modesto, C., Quartier, P., Hoppenreijs, E., Martino, S., Insalaco, A., Cantarini, L., Lepore, L., Alessio, M., Calvo Penades, I., Boros, C., Consolini, R., Rigante, D., Russo, R., Pachlopnik Schmid, J., Lane, T., Martini, A., Ruperto, N., Frenkel, J., and Gattorno, M.

Subjects
Diarrhea, Male, Adolescent, Genotype, Vomiting, Immunology, Lymphadenopathy, Mevalonic Aciduria, Eurofever Project, Hereditary Autoinflammatory Disease, Hyper IgD syndrome, Mevalonate Kinase Deficiency, Mevalonic Aciduria, Skin Diseases, Uveitis, Rheumatology, Cerebellar Diseases, Intellectual Disability, Journal Article, Immunology and Allergy, Humans, Registries, Hyper IgD syndrome, Age of Onset, Child, Preschool, Eurofever Project, Retrospective Studies, Stomatitis, Arthritis, Infant, Newborn, Headache, Infant, Pharyngitis, Amyloidosis, Myalgia, Aphthous, Conjunctivitis, Newborn, Arthralgia, Hereditary Autoinflammatory Disease, Abdominal Pain, Phosphotransferases (Alcohol Group Acceptor), Phenotype, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Stomatitis, Aphthous, Female, Mevalonate Kinase Deficiency, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5]
Abstract

OBJECTIVE: Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe the genotype, phenotype, and response to treatment in an international cohort of MKD patients. METHODS: All MKD cases were extracted from the Eurofever registry (Executive Agency for Health and Consumers project no. 2007332), an international, multicenter registry that retrospectively collects data on children and adults with autoinflammatory diseases. RESULTS: The study included 114 MKD patients. The median age at onset was 0.5 years. Patients had on average 12 episodes per year. Most patients had gastrointestinal symptoms (n = 112), mucocutaneous involvement (n = 99), lymphadenopathy (n = 102), or musculoskeletal symptoms (n = 89). Neurologic symptoms included headache (n = 43), cerebellar syndrome (n = 2), and mental retardation (n = 4). AA amyloidosis was noted in 5 patients, almost twice as many as expected from findings in previous cohorts. Macrophage activation syndrome occurred in 1 patient. Patients were generally well between attacks, but 10-20% of the patients had constitutional symptoms, such as fatigue, between fever episodes. Patients with p.V377I/p.I268T compound heterozygosity had AA amyloidosis significantly more often. Patients without a p.V377I mutation more often had severe musculoskeletal involvement. Treatment with nonsteroidal antiinflammatory drugs relieved symptoms. Steroids given during attacks, anakinra, and etanercept appeared to improve symptoms and could induce complete remission in patients with MKD. CONCLUSION: We describe the clinical and genetic characteristics of 114 MKD patients, which is the largest cohort studied so far. The clinical manifestations confirm earlier reports. However, the prevalence of AA amyloidosis is far higher than expected.

Published
2016

48. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

Author

Haar, Nienke Ter, Lachmann, Helen, Özen, Seza, Woo, Pat, Uziel, Yosef, Modesto, Consuelo, Koné Paut, Isabelle, Cantarini, Luca, Insalaco, Antonella, Neven, Bénédicte, Hofer, Michael, Rigante, Donato, Al Mayouf, Sulaiman, Touitou, Isabelle, Gallizzi, Romina, Papadopoulou Alataki, Efimia, Martino, Silvana, Kuemmerle Deschner, Jasmin, Obici, Laura, Iagaru, Nicolae, Simon, Anna, Nielsen, Susan, Martini, Alberto, Ruperto, Nicolino, Gattorno, Marco, Frenkel, Joost, Kondi, A, De Cunto, C, Espada, G, Russo, R, Amaryan, G, Boros, C, Wouters, C, de Oliveira SK, Borzutzky, A, Jelusic Drazic, M, Dolezalova, P, Herlin, T, Desjonqueres, M, Djeddi, D, Hentgen, V, Darce, M, Ioseliani, M, Berendes, R, Horneff, G, Jansson, A, Minden, K, Schwarz, T, Trauzeddel, R, Kanakoudi Tsakalidou, F, Vougiouka, O, Constantin, T, Rao, Ap, Brik, R, Harel, L, Alessio, M, Breda, L, Cimaz, R, Consolini, Rita, Fabio, G, Garozzo, R, Lepore, L, Manna, R, Meini, A, Olivieri, An, Stanevicha, V, Rusoniene, S, Hoppenreijs, E, Al Abrawi Sy, Nikishina, I, Sewairi, Wm, Susic, G, Ciznar, P, Avcin, T, Anton, J, Bou, R, Merino, R, Elorduy, Mj, Fasth, A, Aksu, G, Demirkaya, E., Ter Haar, N., Lachmann, H., Özen, S., Woo, P., Uziel, Y., Modesto, C., Koné Paut, I., Cantarini, L., Insalaco, A., Neven, B., Hofer, M., Rigante, D., Al Mayouf, S., Touitou, I., Gallizzi, R., Papadopoulou Alataki, E., Martino, S., Kuemmerle Deschner, J., Obici, L., Iagaru, N., Simon, A., Nielsen, S., Martini, A., Ruperto, N., Gattorno, M., Frenkel, J., and Olivieri, Alma Nunzia

Subjects
Genetics and Molecular Biology (all), medicine.medical_specialty, PFAPA syndrome, Immunology, autoinflammatory diseases, Eurofever, Registry, Familial Mediterranean fever, Disease, Biochemistry, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, autoinflammatory disease, Internal medicine, Acne Vulgaris, medicine, Immunology and Allergy, Humans, Registries, 030304 developmental biology, 030203 arthritis & rheumatology, 0303 health sciences, Arthritis, Infectious, Mevalonate kinase deficiency, business.industry, Hyper-IgD syndrome, Arthritis, Settore MED/09 - MEDICINA INTERNA, Infectious, Cryopyrin-associated periodic syndrome, medicine.disease, Cryopyrin-Associated Periodic Syndromes, Pyoderma Gangrenosum, 3. Good health, Familial Mediterranean Fever, Pathogenesis and modulation of inflammation [N4i 1], Europe, TNF receptor associated periodic syndrome, Mevalonate Kinase Deficiency, Biochemistry, Genetics and Molecular Biology (all), business
Abstract

Item does not contain fulltext OBJECTIVE: To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review. METHODS: The response to treatment was studied in a web-based registry in which clinical information on anonymised patients with autoinflammatory diseases was collected retrospectively as part of the Eurofever initiative. Participating hospitals included paediatric rheumatology centres of the Paediatric Rheumatology International Trial Organisation network and adult centres with a specific interest in autoinflammatory diseases. The following diseases were included: familial Mediterranean fever (FMF), cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor (TNF)-receptor associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), pyogenic arthritis pustulosis acne (PAPA) syndrome, deficiency of interleukin-1 receptor antagonist (DIRA), NLRP12-related periodic fever and periodic fever aphthosis pharyngitis adenitis (PFAPA) syndrome. Cases were independently validated by experts for each disease. A literature search regarding treatment of the abovementioned diseases was also performed using Medline and Embase. RESULTS: 22 months from the beginning of the enrolment, complete information on 496 validated patients was available. Data from the registry in combination with evidence from the literature confirmed that colchicine is the treatment of choice for FMF and IL-1 blockade for DIRA and CAPS. Corticosteroids on demand probably represent a valid therapeutic strategy for PFAPA, but also for MKD and TRAPS. Patients with poorly controlled MKD, TRAPS, PAPA or FMF may benefit from IL-1 blockade; anti-TNF treatment may represent a possible valuable alternative. CONCLUSIONS: In the absence of high-grade evidence, these results could serve as a basis for therapeutic guidelines and to identify candidate drugs for future therapeutic trials.

Published
2013

49. Prognostic relevance of the molecular classification in high-grade endometrial cancer for patients staged by lymphadenectomy and without adjuvant treatment.

Author

Leon-Castillo A, Horeweg N, Peters EEM, Rutten T, Ter Haar N, Smit VTHBM, Kroon CD, Boennelycke M, Hogdall E, Hogdall C, Nout RRA, Creutzberg CL, Ortoft G, and Bosse T

Subjects
Biomarkers, Tumor genetics, Female, Humans, Lymph Node Excision, Mutation, Prognosis, Endometrial Neoplasms genetics, Endometrial Neoplasms metabolism, Endometrial Neoplasms surgery, Tumor Suppressor Protein p53 genetics
Abstract

Introduction: The clinical role of the molecular endometrial cancer (EC) classification has not been fully explored in patients staged with lymphadenectomy or without adjuvant treatment, conditions that could potentially moderate the prognostic value of the classification. We aimed to evaluate the clinical outcome of the molecular subgroups in patients with high-grade EC staged by lymphadenectomy and those without adjuvant treatment., Methods: DNA-sequencing for the detection of pathogenic POLE-exonuclease domain mutations and immunohistochemistry for mismatch repair (MMR) proteins and p53 expression were performed on 412 high-grade EC from the Danish Gynaecological Cancer Database (2005-2012) to classify them as POLE-ultramutated (POLEmut), MMR-deficient (MMRd), p53-mutant (p53abn), or no specific molecular profile (NSMP). Patients with stage IV or residual disease after surgery were excluded. Kaplan-Meier method, log-rank test and Cox proportional hazard models were used for analysis., Results: Molecular analysis was successful in 367 EC; 251 patients had undergone lymphadenectomy. Five-year recurrence rates in this subgroup of patients was 36.7% for women with p53abn EC, 0.0% for POLEmut EC, 13.4% for MMRd EC and 42.9% for NSMP EC (p < 0.001). Similar results were observed among stage IA-IB patients. Among patients without adjuvant treatment (n = 264), none with POLEmut EC (n = 26) had a recurrence., Conclusion: The molecular EC classification has strong prognostic value, independent of clinicopathological factors, also among high-grade EC patients staged by lymphadenectomy and those without adjuvant treatment. The unfavourable prognosis of early-stage p53abn EC is not due to undetected lymph node metastasis, and the indolent behaviour of POLEmut EC is independent of adjuvant treatment., (Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.)

Published
2022
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50. Histological and Somatic Mutational Profiles of Mismatch Repair Deficient Endometrial Tumours of Different Aetiologies.

Author

Ryan NAJ, Walker TDJ, Bolton J, Ter Haar N, Van Wezel T, Glaire MA, Church DN, Evans DG, Bosse T, and Crosbie EJ

Abstract

Background: Mismatch repair deficient (MMRd) tumours may arise from somatic events acquired during carcinogenesis or in the context of Lynch syndrome (LS), an inherited cancer predisposition condition caused by germline MMR pathogenic variants. Our aim was to explore whether sporadic and hereditary MMRd endometrial cancers (EC) display distinctive tumour biology., Methods: Clinically annotated LS-EC were collected. Histological slide review was performed centrally by two specialist gynaecological pathologists. Mutational analysis was by a bespoke 75- gene next-generation sequencing panel. Comparisons were made with sporadic MMRd EC. Multiple correspondence analysis was used to explore similarities and differences between the cohorts., Results: After exclusions, 135 LS-EC underwent independent histological review, and 64 underwent mutational analysis. Comparisons were made with 59 sporadic MMRd EC. Most tumours were of endometrioid histological subtype (92% LS-EC and 100% sporadic MMRd EC, respectively, p = NS). Sporadic MMRd tumours had significantly fewer tumour infiltrating lymphocytes ( p ≤ 0.0001) and showed more squamous/mucinous differentiation than LS-EC ( p = 0.04/ p = 0.05). PTEN mutations were found in 88% sporadic MMRd and 61% LS-EC, respectively ( p < 0.001). Sporadic MMRd tumours had significantly more mutations in PDGFRA , ALK , IDH1 , CARD11 , CIC , MED12 , CCND1 , PTPN11 , RB1 and KRAS , while LS-EC showed more mutations affecting SMAD4 and ARAF . LS-EC showed a propensity for TGF-β signalling disruption. Cluster analysis found that wild type PTEN associates predominantly with LS-EC, whilst co-occurring mutations in PTEN , PIK3CA and KRAS predict sporadic MMRd EC., Conclusions: Whilst MMRd EC of hereditary and sporadic aetiology may be difficult to distinguish by histology alone, differences in infiltrating immune cell counts and mutational profile may predict heterogenous responses to novel targeted therapies and warrant further study.

Published
2021
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