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Your search keyword '"Belle, S. Van"' showing total 23 results
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23 results on '"Belle, S. Van"'

1. Pleuropulmonary blastoma (PPB) and other DICER1-associated high-grade malignancies are morphologically, genetically and epigenetically related - A comparative study of 4 PPBs and 6 sarcomas

Author

Hiemcke-Jiwa, L.S., Belle, S. van, Eijkelenboom, A., Merks, J.H.M., Noesel, M.M. van, Kaal, S.E.J., Pijnenborg, J.M.A., Bulten, J., Kester, L.A., Flucke, U.E., Hiemcke-Jiwa, L.S., Belle, S. van, Eijkelenboom, A., Merks, J.H.M., Noesel, M.M. van, Kaal, S.E.J., Pijnenborg, J.M.A., Bulten, J., Kester, L.A., and Flucke, U.E.

Abstract

Contains fulltext : 253192.pdf (Publisher’s version ) (Open Access)

Published
2022

5. De Novo Mutations Affecting the Catalytic Calpha Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

Author

Reynhout, S., Jansen, S, Haesen, D., Belle, S. van, Munnik, S.A. de, Bongers, E.M.H.F., Schieving, J.H., Marcelis, C.L., Amiel, J., Rio, M. del, McLaughlin, H., Ladda, R., Sell, S., Kriek, M., Peeters-Scholte, C., Terhal, P.A., Gassen, K.L.I. van, Verbeek, N., Henry, S., Schwoerer, J. Scott, Malik, S., Revencu, N., Ferreira, C.R., Macnamara, E., Braakman, H.M., Brimble, E., Ruzhnikov, M.R.Z., Wagner, M., Harrer, P., Wieczorek, D., Kuechler, A., Tziperman, B., Barel, O., Vries, B.B. de, Gordon, C.T., Janssens, V., Vissers, L.E.L.M., Reynhout, S., Jansen, S, Haesen, D., Belle, S. van, Munnik, S.A. de, Bongers, E.M.H.F., Schieving, J.H., Marcelis, C.L., Amiel, J., Rio, M. del, McLaughlin, H., Ladda, R., Sell, S., Kriek, M., Peeters-Scholte, C., Terhal, P.A., Gassen, K.L.I. van, Verbeek, N., Henry, S., Schwoerer, J. Scott, Malik, S., Revencu, N., Ferreira, C.R., Macnamara, E., Braakman, H.M., Brimble, E., Ruzhnikov, M.R.Z., Wagner, M., Harrer, P., Wieczorek, D., Kuechler, A., Tziperman, B., Barel, O., Vries, B.B. de, Gordon, C.T., Janssens, V., and Vissers, L.E.L.M.

Abstract

Contains fulltext : 202645.pdf (publisher's version ) (Open Access), Type 2A protein phosphatases (PP2As) are highly expressed in the brain and regulate neuronal signaling by catalyzing phospho-Ser/Thr dephosphorylations in diverse substrates. PP2A holoenzymes comprise catalytic C-, scaffolding A-, and regulatory B-type subunits, which determine substrate specificity and physiological function. Interestingly, de novo mutations in genes encoding A- and B-type subunits have recently been implicated in intellectual disability (ID) and developmental delay (DD). We now report 16 individuals with mild to profound ID and DD and a de novo mutation in PPP2CA, encoding the catalytic Calpha subunit. Other frequently observed features were severe language delay (71%), hypotonia (69%), epilepsy (63%), and brain abnormalities such as ventriculomegaly and a small corpus callosum (67%). Behavioral problems, including autism spectrum disorders, were reported in 47% of individuals, and three individuals had a congenital heart defect. PPP2CA de novo mutations included a partial gene deletion, a frameshift, three nonsense mutations, a single amino acid duplication, a recurrent mutation, and eight non-recurrent missense mutations. Functional studies showed complete PP2A dysfunction in four individuals with seemingly milder ID, hinting at haploinsufficiency. Ten other individuals showed mutation-specific biochemical distortions, including poor expression, altered binding to the A subunit and specific B-type subunits, and impaired phosphatase activity and C-terminal methylation. Four were suspected to have a dominant-negative mechanism, which correlated with severe ID. Two missense variants affecting the same residue largely behaved as wild-type in our functional assays. Overall, we found that pathogenic PPP2CA variants impair PP2A-B56(delta) functionality, suggesting that PP2A-related neurodevelopmental disorders constitute functionally converging ID syndromes.

Published
2019

6. Rare Cancers Europe (RCE) methodological recommendations for clinical studies in rare cancers: A European consensus position paper

Author

Casali, Paolo G., Bruzzi, P., Bogaerts, Jan, Blay, Jean-Yves, Aapro, M. S., Adamou, A., Berruti, A., Bressington, J., Bruzzi, B., Capocaccia, R., Cardoso, Fatima, Celis, J. E., Cervantes, A., Ciardiello, F., Claussen, C., Coleman, M., Comis, S., Craine, S., Boltz, D. De, Lorenzo, F. De, P, Angelo Dei Tos, Gatta, G., Geissler, J., Giuliani, R., Grande, E., Gronchi, A., Jezdic, S., Jonsson, B., Jost, Lorenz M., Keulen, H., Lacombe, D., Lamory, G., Cam, Y. Le, Priolo, S. Leto di, Licitra, Lisa, Macchia, F., Margulies, A., Marreaud, S., McVie, G., Narbutas, S., Oliver, K., Pavlidis, Nicholas, Pelouchova, J., Pentheroudakis, George, Piccart, M., Pierotti, M. A., Pravettoni, G., Redmond, K., Riegman, P., Ruffilli, M. P., Ryner, D., Sandrucci, S., Seymour, M., Torri, V., Trama, A., Belle, S. Van, Vassal, G., Wartenberg, M., Watts, C., Wilson, A., Yared, W., Pavlidis, Nicholas [0000-0002-2195-9961], and Pentheroudakis, George [0000-0002-6632-2462]

Subjects
Research design, Pathology, Data base, Research methodology, Electronic medical record, Disease, Review, Procedures, Treatment response, Clinical trials, Rare cancers, Clinical Studies as Topic, Humans, Neoplasms, Rare Diseases, Research Design, Hematology, Oncology, Reimbursement, Priority journal, education.field_of_study, Clinical studies as topic, Rare diseases, Europe, Clinical decision making, Human, medicine.medical_specialty, Practice guideline, Case finding, Population, Health care quality, Reviews, Cancer research, Clinical study, SDG 3 - Good Health and Well-being, Conceptual framework, medicine, Tumor marker, Intensive care medicine, education, Antineoplastic activity, Flexibility (engineering), Surrogate endpoint, business.industry, Methodology, Rare cancer, Study design, Cancer survival, Clinical trial, Patient information, Clinical effectiveness, Position paper, Neoplasm, business, Rare disease
Abstract

While they account for one-fifth of new cancer cases, rare cancers are difficult to study. A higher than average degree of uncertainty should be accommodated for clinical as well as for population-based decision making. Rules of rational decision making in conditions of uncertainty should be rigorously followed and would need widely informative clinical trials. In principle, any piece of new evidence would need to be exploited in rare cancers. Methodologies to explicitly weigh and combine all the available evidence should be refined, and the Bayesian logic can be instrumental to this end. Likewise, Bayesian-design trials may help optimize the low number of patients liable to be enrolled in clinical studies on rare cancers, as well as adaptive trials in general, with their inherent potential of flexibility when properly applied. While clinical studies are the mainstay to test hypotheses, the potential of electronic patient records should be exploited to generate new hypotheses, to create external controls for future studies (when internal controls are unpractical), to study effectiveness of new treatments in real conditions. Framework study protocols in specific rare cancers to stepwisely test sets of new agents, as from the early post-phase I development stage, should be encouraged. Also the compassionate and the off-label settings should be exploited to generate new evidence, and flexible regulatory innovations such as adaptive licensing could convey new agents early to rare cancer patients, while generating evidence. Though validation of surrogate end points is problematic in rare cancers, the use of an updated notion of tumor response may be of great value in the single patient to optimize the use of therapies, all the more the new ones. Disease-based communities, involving clinicians and patients, should be regularly consulted by regulatory bodies when setting their policies on drug approval and reimbursement in specific rare cancers ., While they account for one-fifth of new cancer cases, rare cancers are difficult to study. A higher than average degree of uncertainty should be accommodated for clinical as well as for population-based decision making. Rules of rational decision making in conditions of uncertainty should be rigorously followed and would need widely informative clinical trials. In principle, any piece of new evidence would need to be exploited in rare cancers. Methodologies to explicitly weigh and combine all the available evidence should be refined, and the Bayesian logic can be instrumental to this end. Likewise, Bayesian-design trials may help optimize the low number of patients liable to be enrolled in clinical studies on rare cancers, as well as adaptive trials in general, with their inherent potential of flexibility when properly applied. While clinical studies are the mainstay to test hypotheses, the potential of electronic patient records should be exploited to generate new hypotheses, to create external controls for future studies (when internal controls are unpractical), to study effectiveness of new treatments in real conditions. Framework study protocols in specific rare cancers to sequentially test sets of new agents, as from the early post-phase I development stage, should be encouraged. Also the compassionate and the off-label settings should be exploited to generate new evidence, and flexible regulatory innovations such as adaptive licensing could convey new agents early to rare cancer patients, while generating evidence. Though validation of surrogate end points is problematic in rare cancers, the use of an updated notion of tumor response may be of great value in the single patient to optimize the use of therapies, all the more the new ones. Disease-based communities, involving clinicians and patients, should be regularly consulted by regulatory bodies when setting their policies on drug approval and reimbursement in specific rare cancers.

Published
2015

9. A Wernicke's encephalopathy-like neurotoxicity induced by erbulozole

Author

Klippel, N. De, Keyser, J. De, Greve, J. De, and Belle, S. Van

Subjects
Antineoplastic agents -- Adverse and side effects, Wernicke's encephalopathy -- Case studies, Health, Psychology and mental health
Abstract

Wernicke's encephalopathy is a brain disease which is the result of thiamine deficiency. (Thiamine is also called vitamin B1.) The condition begins with ocular disturbances, confusion, and difficulty walking; left untreated it may progress to Korsakoff's psychosis, which involves the loss of short-term memory. The most common cause of Wernicke's encephalopathy is chronic alcoholism, but thiamine deficiency sufficient to cause Wernicke's encephalopathy may also be caused by drugs. For example, the drug tolazamide can produce encephalopathy by reducing the thiamine levels in patients whose thiamine stores are already borderline. A patient was seen, however, who developed the symptoms of Wernicke's encephalopathy in response to treatment with erbulozole; this drug does not lower thiamine levels. Erbulozole is a water-soluble variant of tubulozole, which inhibits the formation of microtubules within cells. Since microtubules are important for cell division, among many other things, the drug is being tested in the treatment of cancer. The patient had developed metastatic disease in his liver arising from colorectal cancer. He experienced a 15-month complete remission after treatment with 5-fluorouracil, but then experienced a relapse. He then joined a clinical trial for the experimental evaluation of erbulozole. Eight hours after the infusion of the drug, the patient became ataxic, that is, developed problems in his gait. He also developed horizontal nystagmus, which is abnormal involuntary rhythmical movement of the eyes. A presumptive diagnosis of Wernicke's encephalopathy was made and the patient was treated with thiamine supplement. The patient's ocular symptoms disappeared in two days, and within a week all neurological symptoms had resolved. Unfortunately, there is no way of knowing if the condition was affected by the thiamine supplement or whether it would have resolved spontaneously without treatment. Considering the seriousness of the symptoms, it would be unethical to attempt to challenge the patient a second time with the drug erbulozole. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1991

11. Mutation analysis of P73 and TP53 in Merkel cell carcinoma

Author

Gele, M Van, primary, Kaghad, M, additional, Leonard, J H, additional, Roy, N Van, additional, Naeyaert, J M, additional, Geerts, M L, additional, Belle, S Van, additional, Cocquyt, V, additional, Bridge, J, additional, Sciot, R, additional, Wolf-Peeters, C De, additional, Paepe, A De, additional, Caput, D, additional, and Speleman, F, additional

Published
2000
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14. Marimastat in recurrent colorectal cancer: exploratory evaluation of biological activity by measurement of carcinoembryonic antigen

Author

Primrose, J N, primary, Bleiberg, H, additional, Daniel, F, additional, Belle, S Van, additional, Mansi, J L, additional, Seymour, M, additional, Johnson, P W, additional, Neoptolemos, J P, additional, Baillet, M, additional, Barker, K, additional, Berrington, A, additional, Millar, A W, additional, and Lynch, K P, additional

Published
1999
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17. Adjuvant high-dose medroxyprogesterone acetate for early breast cancer: 13 years update in a multicentre randomized trial.

Author

Focan, C, Beauduin, M, Salamon, E, Greve, J de, Wasch, G de, Lobelle, J P, Majois, F, Tagnon, A, Tytgat, J, Belle, S van, Vandervellen, R, and Vindevoghel, A

Subjects
BREAST cancer, CANCER hormone therapy
Abstract

The authors updated their report on a randomized trial initiated in 1982 comparing, in early breast cancer, high-dose IM Medroxyprogesterone acetate (HD-MPA) adjuvant hormonotherapy during 6 months with no hormonotherapy; node-positive patients also received 6 courses of IV CMF (day 1, day 8; q.4 weeks). 246 node-negative (NN) and 270 node-positive (NP) patients had been followed for a median duration of 13 years. Previous results were confirmed in this analysis on mature data. In NN patients, relapse-free survival (RFS) was improved in the adjuvant hormonotherapy arm, regardless of age while overall survival (OAS) was also increased in younger (less then 50 years) patients. In the whole group of NP patients, no difference was seen regarding RFS or OAS. However, an age-dependant opposite effect was observed: younger patients (< 50) experienced a worse and significant outcome of relapse-free and overall survivals when receiving adjuvant HD-MPA while older patients (> = 50) enjoyed a significant improvement of their relapse-free survival. For both NN and NP patients, differences in overall survivals observed in older women with a shorter follow-up, were no longer detected. [ABSTRACT FROM AUTHOR]

Published
2001

23. Imaging requirements for personalized medicine: the oncologists point of view.

Author

Kruse V, Belle SV, and Cocquyt V

Subjects
Diagnostic Imaging trends, Humans, Medical Oncology trends, Molecular Imaging methods, Molecular Imaging trends, Positron-Emission Tomography methods, Positron-Emission Tomography trends, Precision Medicine trends, Diagnostic Imaging methods, Medical Oncology methods, Neoplasms diagnosis, Physician's Role, Precision Medicine methods
Abstract

While conventional chemotherapy regimens aim to be cytotoxic against proliferating cells, molecular targeted therapies are directed at specific cancer-associated pathways. To optimize cancer care, an early evaluation of treatment response is warranted for any tumor type - and for any treatment - by using conventional imaging modalities such as ultrasound, CT and MR, FDG-PET or specific radiotracer. FDG-PET is one of the most extensively and successfully used imaging modalities to achieve an early response evaluation. A high SUV-value is a surrogate for malignancy in terms of cancer care and a decrease in FDG-uptake after therapy is associated with treatment response and a favorable clinical outcome. Anyhow, the potential of PET reaches further. By providing metabolic information PET (with or without CT) can help to select patients for targeted therapy and to adapt treatment protocols. PET with FDG and maybe other, more specific PET tracers, promises to direct in a better way personalized cancer care and thus promote translational research. An interesting aspect of molecular imaging is the ability to achieve knowledge on distribution and expression levels of a given receptor. Hereby, imaging could help in guiding systemic treatment given a broad spectrum of radiotracers, detecting specific mutations at molecular level in vivo. From an oncologists point of view the concept of 'personalized medicine' should evolve to include 'personalized imaging' as well as 'personalized treatment' in order to optimize cancer care, reduce side effects and improve quality of life for cancer patients.

Published
2014
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