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204. Pre-operative trans-catheter arterial chemo-embolization increases hepatic artery thrombosis after liver transplantation - a retrospective study

Author

Gilbo, Nicholas, primary, Van Praet, Laura, additional, Jochmans, Ina, additional, Sainz-Barriga, Mauricio, additional, Verslype, Chris, additional, Maleux, Geert, additional, Laleman, Wim, additional, van der Merwe, Schalk, additional, Cassiman, David, additional, Nevens, Frederik, additional, Monbaliu, Diethard, additional, and Pirenne, Jacques, additional

Published
2017
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206. Effect of Rosuvastatin on Carotid Intima-Media Thickness in Children With Heterozygous Familial Hypercholesterolemia

Author

Braamskamp, Marjet J.A.M., primary, Langslet, Gisle, additional, McCrindle, Brian W., additional, Cassiman, David, additional, Francis, Gordon A., additional, Gagne, Claude, additional, Gaudet, Daniel, additional, Morrison, Katherine M., additional, Wiegman, Albert, additional, Turner, Traci, additional, Miller, Elinor, additional, Kusters, D. Meeike, additional, Raichlen, Joel S., additional, Martin, Paul D., additional, Stein, Evan A., additional, Kastelein, John J.P., additional, and Hutten, Barbara A., additional

Published
2017
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207. Fertility in adult women with classic galactosemia and primary ovarian insufficiency

Author

van Erven, Britt, primary, Berry, Gerard T., additional, Cassiman, David, additional, Connolly, Geraldine, additional, Forga, Maria, additional, Gautschi, Matthias, additional, Gubbels, Cynthia S., additional, Hollak, Carla E.M., additional, Janssen, Mirian C., additional, Knerr, Ina, additional, Labrune, Philippe, additional, Langendonk, Janneke G., additional, Õunap, Katrin, additional, Thijs, Abel, additional, Vos, Rein, additional, Wortmann, Saskia B., additional, and Rubio-Gozalbo, M. Estela, additional

Published
2017
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208. Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies

Author

Cardoso, Shirleny R., primary, Ellison, Alicia C.M., additional, Walne, Amanda J., additional, Cassiman, David, additional, Raghavan, Manoj, additional, Kishore, Bhuvan, additional, Ancliff, Philip, additional, Rodríguez-Vigil, Carmen, additional, Dobbels, Bieke, additional, Rio-Machin, Ana, additional, Al Seraihi, Ahad F.H., additional, Pontikos, Nikolas, additional, Tummala, Hemanth, additional, Vulliamy, Tom, additional, and Dokal, Inderjeet, additional

Published
2017
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209. Dietary intervention, but not losartan, completely reverses non-alcoholic steatohepatitis in obese and insulin resistant mice

Author

Verbeek, Jef, primary, Spincemaille, Pieter, additional, Vanhorebeek, Ilse, additional, Van den Berghe, Greet, additional, Vander Elst, Ingrid, additional, Windmolders, Petra, additional, van Pelt, Jos, additional, van der Merwe, Schalk, additional, Bedossa, Pierre, additional, Nevens, Frederik, additional, Cammue, Bruno, additional, Thevissen, Karin, additional, and Cassiman, David, additional

Published
2017
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210. Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Author

Jenkinson, Emma M, primary, Rodero, Mathieu P, additional, Kasher, Paul R, additional, Uggenti, Carolina, additional, Oojageer, Anthony, additional, Goosey, Laurence C, additional, Rose, Yoann, additional, Kershaw, Christopher J, additional, Urquhart, Jill E, additional, Williams, Simon G, additional, Bhaskar, Sanjeev S, additional, O'Sullivan, James, additional, Baerlocher, Gabriela M, additional, Haubitz, Monika, additional, Aubert, Geraldine, additional, Barañano, Kristin W, additional, Barnicoat, Angela J, additional, Battini, Roberta, additional, Berger, Andrea, additional, Blair, Edward M, additional, Brunstrom-Hernandez, Janice E, additional, Buckard, Johannes A, additional, Cassiman, David M, additional, Caumes, Rosaline, additional, Cordelli, Duccio M, additional, De Waele, Liesbeth M, additional, Fay, Alexander J, additional, Ferreira, Patrick, additional, Fletcher, Nicholas A, additional, Fryer, Alan E, additional, Goel, Himanshu, additional, Hemingway, Cheryl A, additional, Henneke, Marco, additional, Hughes, Imelda, additional, Jefferson, Rosalind J, additional, Kumar, Ram, additional, Lagae, Lieven, additional, Landrieu, Pierre G, additional, Lourenço, Charles M, additional, Malpas, Timothy J, additional, Mehta, Sarju G, additional, Metz, Imke, additional, Naidu, Sakkubai, additional, Õunap, Katrin, additional, Panzer, Axel, additional, Prabhakar, Prab, additional, Quaghebeur, Gerardine, additional, Schiffmann, Raphael, additional, Sherr, Elliott H, additional, Sinnathuray, Kanaga R, additional, Soh, Calvin, additional, Stewart, Helen S, additional, Stone, John, additional, Van Esch, Hilde, additional, Van Mol, Christine E G, additional, Vanderver, Adeline, additional, Wakeling, Emma L, additional, Whitney, Andrea, additional, Pavitt, Graham D, additional, Griffiths-Jones, Sam, additional, Rice, Gillian I, additional, Revy, Patrick, additional, van der Knaap, Marjo S, additional, Livingston, John H, additional, O'Keefe, Raymond T, additional, and Crow, Yanick J, additional

Published
2017
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212. Identification of survival-promoting OSIP108 peptide variants and their internalization in human cells

Author

Verbandt, Sara, primary, Henriques, Sónia Troeira, additional, Spincemaille, Pieter, additional, Harvey, Peta J., additional, Chandhok, Gursimran, additional, Sauer, Vanessa, additional, De Coninck, Barbara, additional, Cassiman, David, additional, Craik, David J., additional, Cammue, Bruno P.A., additional, De Cremer, Kaat, additional, and Thevissen, Karin, additional

Published
2017
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213. Pro-Inflammatory Cytokines but Not Endotoxin-Related Parameters Associate with Disease Severity in Patients with NAFLD

Author

du Plessis, Johannie, primary, Korf, Hannelie, additional, van Pelt, Jos, additional, Windmolders, Petra, additional, Vander Elst, Ingrid, additional, Verrijken, An, additional, Hubens, Guy, additional, Van Gaal, Luc, additional, Cassiman, David, additional, Nevens, Frederik, additional, Francque, Sven, additional, and van der Merwe, Schalk, additional

Published
2016
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214. Dual loss of succinate dehydrogenase (SDH) and complex I activity is necessary to recapitulate the metabolic phenotype of SDH mutant tumors

Author

Lorendeau, Doriane, Rinaldi, Gianmarco, Boon, Ruben, Spincemaille, Pieter, Metzger, Kristine, Jäger, Christian, Christen, Stefan, Dong, Xiangyi, Kuenen, Sabine, Voordeckers, Karin, Verstreken, Patrik, Cassiman, David, Vermeersch, Pieter, Verfaillie, Catherine, Hiller, Karsten, Fendt, Sarah-Maria, Lorendeau, Doriane, Rinaldi, Gianmarco, Boon, Ruben, Spincemaille, Pieter, Metzger, Kristine, Jäger, Christian, Christen, Stefan, Dong, Xiangyi, Kuenen, Sabine, Voordeckers, Karin, Verstreken, Patrik, Cassiman, David, Vermeersch, Pieter, Verfaillie, Catherine, Hiller, Karsten, and Fendt, Sarah-Maria

Published
2016

215. Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls

Author

Van Ginkel, Willem W.G., Goyens, Philippe, McKiernan, Patrick, Van Spronsen, Francjan, Jahja, Rianne, Huijbregts, Stephan C J, Daly, Anne, MacDonald, Anita, De Laet, Corinne, Cassiman, David, Eyskens, François, Körver-Keularts, Irene M L W I.M.L.W., Van Ginkel, Willem W.G., Goyens, Philippe, McKiernan, Patrick, Van Spronsen, Francjan, Jahja, Rianne, Huijbregts, Stephan C J, Daly, Anne, MacDonald, Anita, De Laet, Corinne, Cassiman, David, Eyskens, François, and Körver-Keularts, Irene M L W I.M.L.W.

Abstract

Background: Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disorder caused by a defect in the enzyme Fumarylacetoacetate Hydrolase. Due to this defect, toxic products accumulate which, in turn, cause liver and kidney dysfunction. Treatment with 2-(2-nitro-4-trifluoromethylbenoyl)-1,3-cyclohexanedione (NTBC) and diet has diminished these problems, but recent data indicate that HT1 patients have neurocognitive problems. However, the neuropsychological profile of these patients is unknown. Therefore, this study aimed to investigate this neuropsychological profile by comparing HT1 patients with healthy controls. Methods: Neurocognitive testing was performed in a heterogeneous group of 19 NTBC and dietary treated HT1 patients (five female, fourteen male; mean age 12.9 ± 4.8 years; range 7.9-23.6 years) and 19 age and gender matched controls (five female, fourteen male; mean age 13.2 ± 4.6 years; range 8.1-24.8 years). IQ scores were estimated and all participants performed the Amsterdam Neuropsychological Tasks, measuring executive functions (inhibition, cognitive flexibility and working memory) and social cognition (face recognition and identification of facial emotions). Results: HT1 patients showed poorer estimated IQ, executive functioning (working memory and cognitive flexibility), and social cognition compared to healthy controls. Lower IQ scores in HT1 patients were mostly unrelated to scores on executive function- and social cognition tasks and therefore did not account for group differences in these domains. Further analyses within the HT1 patient group (comparing different groups of patients based on the age at diagnosis and the clinical symptoms at diagnosis) did not reveal any significant results. The duration of NTBC treatment was negatively correlated with IQ. Conclusions: Despite the heterogeneity of the patient group, these data clearly show that IQ, executive functioning and social cognition are affected in HT1 patients, and that IQ screening is, SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2016

218. A Patient with neonatal cholestasis

Author

Claeys, Kristl G., Breysem, Luc, Legius, Eric, Brems, Hilde, Cassiman, David, Moisse, Matthieu, Vermeersch, Pieter, Levtchenko, Elena, and Jaeken, Jaak

Abstract

The patient, a boy born in 1991, showed pronounced polyostotic fibrous dysplasia due to McCune–Albright syndrome, as well as Gilbert syndrome and Charcot–Marie–Tooth neuropathy caused by a DNM2mutation. In addition, the patient, his sister, mother and maternal grandfather had intermittently increased plasma arginine and lysine levels, most probably due to heterozygosity for a novel pathogenic SLC7A2variant.

Published
2021
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221. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Author

Jenkinson, Emma M, primary, Rodero, Mathieu P, additional, Kasher, Paul R, additional, Uggenti, Carolina, additional, Oojageer, Anthony, additional, Goosey, Laurence C, additional, Rose, Yoann, additional, Kershaw, Christopher J, additional, Urquhart, Jill E, additional, Williams, Simon G, additional, Bhaskar, Sanjeev S, additional, O'Sullivan, James, additional, Baerlocher, Gabriela M, additional, Haubitz, Monika, additional, Aubert, Geraldine, additional, Barañano, Kristin W, additional, Barnicoat, Angela J, additional, Battini, Roberta, additional, Berger, Andrea, additional, Blair, Edward M, additional, Brunstrom-Hernandez, Janice E, additional, Buckard, Johannes A, additional, Cassiman, David M, additional, Caumes, Rosaline, additional, Cordelli, Duccio M, additional, De Waele, Liesbeth M, additional, Fay, Alexander J, additional, Ferreira, Patrick, additional, Fletcher, Nicholas A, additional, Fryer, Alan E, additional, Goel, Himanshu, additional, Hemingway, Cheryl A, additional, Henneke, Marco, additional, Hughes, Imelda, additional, Jefferson, Rosalind J, additional, Kumar, Ram, additional, Lagae, Lieven, additional, Landrieu, Pierre G, additional, Lourenço, Charles M, additional, Malpas, Timothy J, additional, Mehta, Sarju G, additional, Metz, Imke, additional, Naidu, Sakkubai, additional, Õunap, Katrin, additional, Panzer, Axel, additional, Prabhakar, Prab, additional, Quaghebeur, Gerardine, additional, Schiffmann, Raphael, additional, Sherr, Elliott H, additional, Sinnathuray, Kanaga R, additional, Soh, Calvin, additional, Stewart, Helen S, additional, Stone, John, additional, Van Esch, Hilde, additional, Van Mol, Christine E G, additional, Vanderver, Adeline, additional, Wakeling, Emma L, additional, Whitney, Andrea, additional, Pavitt, Graham D, additional, Griffiths-Jones, Sam, additional, Rice, Gillian I, additional, Revy, Patrick, additional, van der Knaap, Marjo S, additional, Livingston, John H, additional, O'Keefe, Raymond T, additional, and Crow, Yanick J, additional

Published
2016
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223. Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases

Author

Cassiman, David, primary, Packman, Seymour, additional, Bembi, Bruno, additional, Turkia, Hadhami Ben, additional, Al-Sayed, Moeenaldeen, additional, Schiff, Manuel, additional, Imrie, Jackie, additional, Mabe, Paulina, additional, Takahashi, Tsutomu, additional, Mengel, Karl Eugen, additional, Giugliani, Roberto, additional, and Cox, Gerald F., additional

Published
2016
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224. Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls

Author

van Ginkel, Willem G., primary, Jahja, Rianne, additional, Huijbregts, Stephan C. J., additional, Daly, Anne, additional, MacDonald, Anita, additional, De Laet, Corinne, additional, Cassiman, David, additional, Eyskens, François, additional, Körver-Keularts, Irene M. L. W., additional, Goyens, Philippe J., additional, McKiernan, Patrick J., additional, and van Spronsen, Francjan J., additional

Published
2016
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227. The orphan drug pipeline in Europe

Author

Morel, Thomas, primary, Lhoir, André, additional, Picavet, Eline, additional, Mariz, Segundo, additional, Sepodes, Bruno, additional, Llinares, Jordi, additional, and Cassiman, David, additional

Published
2016
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229. Cause of death in patients with attenuated acid sphingomyelinase deficiency: Comprehensive literature review and report of new cases

Author

Imrie, Jackie, primary, Mengel, Karl Eugen, additional, Cassiman, David, additional, Mabe, Paulina, additional, Al-Sayed, Moeen, additional, Bembi, Bruno, additional, Giugliani, Roberto, additional, Packman, Seymour, additional, Schiff, Manuel, additional, Takahashi, Tsutomu, additional, Turkia, Hadhami Ben, additional, and Cox, Gerald F., additional

Published
2016
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230. Do ultra-orphan medicinal products warrant ultra-high prices? A review

Author

Picavet, Eline, Cassiman,David, and Simoens,Steven

Subjects
Research and Reviews [Orphan Drugs]
Abstract

Eline Picavet,1 David Cassiman,2 Steven Simoens1 1Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, Belgium; 2Department of Hepatology, University Hospital Leuven, Leuven, Belgium Abstract: Ultra-orphan medicinal products (ultra-OMPs) are intended for the treatment, prevention, or diagnosis of ultra-rare diseases, ie, life-threatening or chronically debilitating diseases that affect less than one per 50,000 individuals. Recently, high prices for ultra-OMPs have given rise to debate on the sustainability and justification of these prices. The aim of this article is to review the international scientific literature on the pricing of ultra-OMPs and to provide an overview of the current knowledge on the drivers of ultra-OMP pricing. The pricing process of ultra-OMPs is a complex and nontransparent issue. Evidence in the literature seems to indicate that ultra-OMPs are priced according to rarity and what the manufacturer believes the market will bear. Additionally, there appears to be a trend between the price of an ultra-OMP and the number of available alternatives. Patients, third-party payers, and pharmaceutical companies could benefit from more transparent pricing strategies. With a view to containing health care costs, it is likely that cost-sharing strategies, such as performance-based risk sharing arrangements, will become increasingly more important. However, it is vital that any measures for price control are consistent with the intended goals of the incentives to promote the development of new OMPs. Ideally, a balance must be struck between attaining affordable prices for ultra-OMPs and securing a realistic return on investment for the pharmaceutical industry. Keywords: ultra-orphan medicinal product, ultra-rare disease, pricing

Published
2013

232. Long-term outcome of transjugular intrahepatic portosystemic shunt for portal hypertension in autosomal recessive polycystic kidney disease.

Author

Verbeeck, Sarah, Mekhali, Djalila, Cassiman, David, Maleux, Geert, and Witters, Peter

Abstract

Background Autosomal recessive polycystic kidney disease (ARPKD) with congenital hepatic fibrosis (CHF) causes portal hypertension and its complications. A transjugular intrahepatic portosystemic shunt (TIPSS) could serve as a symptomatic treatment for portal hypertension-related symptoms in these children. Aims To study the effect of TIPSS on portal hypertension, liver and kidney function and the long term complications. Materials and methods We report on 5 children with CHF treated with a TIPSS to manage severe portal hypertension related symptoms. Results Mean follow-up time was 7 years and 2 months. At the end of follow-up there was a reduction of spleen size (p = 0.715) and hypersplenism with a rise in platelet count (p = 0.465). Esophageal varices and ascites disappeared in all patients. Liver and kidney function remained stable. In two patients endotipsitis was suspected and two patients developed an in-stent stenosis. There was no sign of encephalopathy in our patients. Conclusion TIPSS using ePTFE-covered stent is a feasible and effective alternative for surgical portosystemic shunting in children with CHF, also on the long term. It can postpone the need of a liver transplantation but close monitoring remains important for early diagnosis of endotipsitis or stent dysfunction related to stenosis. [ABSTRACT FROM AUTHOR]

Published
2018
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233. Pre-operative trans-catheter arterial chemo-embolization increases hepatic artery thrombosis after liver transplantation – a retrospective study.

Author

Gilbo, Nicholas, Van Praet, Laura, Jochmans, Ina, Sainz-Barriga, Mauricio, Verslype, Chris, Maleux, Geert, Laleman, Wim, van der Merwe, Schalk, Cassiman, David, Nevens, Frederik, Monbaliu, Diethard, and Pirenne, Jacques

Abstract

Little is known about nonsurgical risk factors for hepatic artery thrombosis (HAT ) after liver transplantation (LT ). We determined risk factors for HAT occurring within 90 days post‐LT and analysed the effect of HAT on graft and patient survival. Donor and recipient demographics, surgery‐related data and outcome in transplants complicated by thrombosis (HAT +) and their matched controls (HAT −) were compared. Risk factors were assessed by univariate logistic regression. Median (IQR ) is given. A total of 25 HAT occurred among 1035 adult LT (1/1997–12/2014) and 50 controls were manually matched. Donor and recipient demographics were similar. Pre‐LT trans‐catheter arterial chemo‐embolization (TACE ) was more frequent in HAT + (HAT + 20% vs. HAT − 4%, P = 0.037). HAT + had longer implantation [HAT + 88 min (76–108) vs. HAT − 77 min (66–93), P = 0.028] and surgery times [HAT + 6.25 h (5.18–7.47) vs. HAT − 5.25 h (4.33–6.5), P = 0.001]. Early graft dysfunction and sepsis were more frequent in HAT + and hospitalization longer. TACE had the greatest odds ratio in unadjusted analysis (OR : 6, 95% CI : 1.07–33.53, P = 0.03). All but seven grafts were lost after HAT (HAT + 72% vs. HAT − 36%, P = 0.003); however, patient survival was unaffected (HAT + 79.8% vs. HAT − 76%, P = 0.75). LT candidates undergoing TACE are at risk of developing HAT early after transplant. [ABSTRACT FROM AUTHOR]

Published
2018
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234. Correction: The ribosomal RPL10 R98S mutation drives IRES-dependent BCL-2 translation in T-ALL

Author

Kampen, Kim R., Sulima, Sergey O., Verbelen, Benno, Girardi, Tiziana, Vereecke, Stijn, Fancello, Laura, Rinaldi, Gianmarco, Verbeeck, Jelle, Op de Beeck, Joyce, Uyttebroeck, Anne, Meijerink, Jules P. P., Moorman, Anthony V., Harrison, Christine J., Spincemaille, Pieter, Cools, Jan, Cassiman, David, Fendt, Sarah-Maria, Vermeersch, Pieter, and De Keersmaecker, Kim

Abstract

Following the publication of this article, the authors noted that Dr Laura Fancello was not listed among the authors. The corrected author list is given below. Additionally, the following was not included in the author contribution statement: ‘L.F. analyzed RNA sequencing data’.

Published
2019
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235. Evidence for an alternative fatty acid desaturation pathway increasing cancer plasticity

Author

Vriens, Kim, Christen, Stefan, Parik, Sweta, Broekaert, Dorien, Yoshinaga, Kazuaki, Talebi, Ali, Dehairs, Jonas, Escalona-Noguero, Carmen, Schmieder, Roberta, Cornfield, Thomas, Charlton, Catriona, Romero-Pérez, Laura, Rossi, Matteo, Rinaldi, Gianmarco, Orth, Martin F., Boon, Ruben, Kerstens, Axelle, Kwan, Suet Ying, Faubert, Brandon, Méndez-Lucas, Andrés, Kopitz, Charlotte C., Chen, Ting, Fernandez-Garcia, Juan, Duarte, João A. G., Schmitz, Arndt A., Steigemann, Patrick, Najimi, Mustapha, Hägebarth, Andrea, Van Ginderachter, Jo A., Sokal, Etienne, Gotoh, Naohiro, Wong, Kwok-Kin, Verfaillie, Catherine, Derua, Rita, Munck, Sebastian, Yuneva, Mariia, Beretta, Laura, DeBerardinis, Ralph J., Swinnen, Johannes V., Hodson, Leanne, Cassiman, David, Verslype, Chris, Christian, Sven, Grünewald, Sylvia, Grünewald, Thomas G. P., and Fendt, Sarah-Maria

Abstract

Most tumours have an aberrantly activated lipid metabolism1,2that enables them to synthesize, elongate and desaturate fatty acids to support proliferation. However, only particular subsets of cancer cells are sensitive to approaches that target fatty acid metabolism and, in particular, fatty acid desaturation3. This suggests that many cancer cells contain an unexplored plasticity in their fatty acid metabolism. Here we show that some cancer cells can exploit an alternative fatty acid desaturation pathway. We identify various cancer cell lines, mouse hepatocellular carcinomas, and primary human liver and lung carcinomas that desaturate palmitate to the unusual fatty acid sapienate to support membrane biosynthesis during proliferation. Accordingly, we found that sapienate biosynthesis enables cancer cells to bypass the known fatty acid desaturation pathway that is dependent on stearoyl-CoA desaturase. Thus, only by targeting both desaturation pathways is the in vitro and in vivo proliferation of cancer cells that synthesize sapienate impaired. Our discovery explains metabolic plasticity in fatty acid desaturation and constitutes an unexplored metabolic rewiring in cancers.

Published
2019
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236. The ribosomal RPL10 R98S mutation drives IRES-dependent BCL-2 translation in T-ALL

Author

Kampen, Kim, Sulima, Sergey, Verbelen, Benno, Girardi, Tiziana, Vereecke, Stijn, Rinaldi, Gianmarco, Verbeeck, Jelle, Op de Beeck, Joyce, Uyttebroeck, Anne, Meijerink, Jules, Moorman, Anthony, Harrison, Christine, Spincemaille, Pieter, Cools, Jan, Cassiman, David, Fendt, Sarah-Maria, Vermeersch, Pieter, and De Keersmaecker, Kim

Abstract

The R98S mutation in ribosomal protein L10 (RPL10 R98S) affects 8% of pediatric T-cell acute lymphoblastic leukemia (T-ALL) cases, and was previously described to impair cellular proliferation. The current study reveals that RPL10 R98S cells accumulate reactive oxygen species which promotes mitochondrial dysfunction and reduced ATP levels, causing the proliferation defect. RPL10 R98S mutant leukemia cells can survive high oxidative stress levels via a specific increase of IRES-mediated translation of the anti-apoptotic factor B-cell lymphoma 2 (BCL-2), mediating BCL-2 protein overexpression. RPL10 R98S selective sensitivity to the clinically available Bcl-2 inhibitor Venetoclax (ABT-199) was supported by suppression of splenomegaly and the absence of human leukemia cells in the blood of T-ALL xenografted mice. These results shed new light on the oncogenic function of ribosomal mutations in cancer, provide a novel mechanism for BCL-2 upregulation in leukemia, and highlight BCL-2 inhibition as a novel therapeutic opportunity in RPL10 R98S defective T-ALL.

Published
2019
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237. Efficacy and safety of rosuvastatin therapy in children and adolescents with familial hypercholesterolemia: Results from the CHARON study

Author

Braamskamp, Marjet J.A.M., primary, Langslet, Gisle, additional, McCrindle, Brian W., additional, Cassiman, David, additional, Francis, Gordon A., additional, Gagné, Claude, additional, Gaudet, Daniel, additional, Morrison, Katherine M., additional, Wiegman, Albert, additional, Turner, Traci, additional, Kusters, D. Meeike, additional, Miller, Elinor, additional, Raichlen, Joel S., additional, Wissmar, Jenny, additional, Martin, Paul D., additional, Stein, Evan A., additional, and Kastelein, John J.P., additional

Published
2015
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238. Association of Adipose Tissue Inflammation With Histologic Severity of Nonalcoholic Fatty Liver Disease

Author

du Plessis, Johannie, primary, van Pelt, Jos, additional, Korf, Hannelie, additional, Mathieu, Chantal, additional, van der Schueren, Bart, additional, Lannoo, Matthias, additional, Oyen, Tom, additional, Topal, Baki, additional, Fetter, Gary, additional, Nayler, Simon, additional, van der Merwe, Tessa, additional, Windmolders, Petra, additional, Van Gaal, Luc, additional, Verrijken, An, additional, Hubens, Guy, additional, Gericke, Martin, additional, Cassiman, David, additional, Francque, Sven, additional, Nevens, Frederik, additional, and van der Merwe, Schalk, additional

Published
2015
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239. Synergistic Activity of the Plant Defensin HsAFP1 and Caspofungin against Candida albicans Biofilms and Planktonic Cultures

Author

Vriens, Kim, primary, Cools, Tanne L., additional, Harvey, Peta J., additional, Craik, David J., additional, Spincemaille, Pieter, additional, Cassiman, David, additional, Braem, Annabel, additional, Vleugels, Jozef, additional, Nibbering, Peter H., additional, Drijfhout, Jan Wouter, additional, De Coninck, Barbara, additional, Cammue, Bruno P. A., additional, and Thevissen, Karin, additional

Published
2015
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243. Late onset ornithine transcarbamylase deficiency in a 61 year old male

Author

Malfait, Malfait, primary, Schoenmakere, Gert De, additional, Filip Gallant, Filip, additional, Hans Schepkens, Hans, additional, Loo, Ann Van, additional, Meersseman, Wouter, additional, Cassiman, David, additional, Steven Brabant, Steven, additional, Johannes Häberle, Johannes, additional, and Terryn, Wim, additional

Published
2015
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244. Bone demineralisation in a large cohort of Wilson disease patients

Author

Weiss, Karl Heinz, primary, Van de Moortele, Mart, additional, Gotthardt, Daniel Nils, additional, Pfeiffenberger, Jan, additional, Seeßle, Jessica, additional, Ullrich, Elena, additional, Gielen, Evelien, additional, Borghs, Herman, additional, Adriaens, Els, additional, Stremmel, Wolfgang, additional, Meersseman, Wouter, additional, Boonen, Steven, additional, and Cassiman, David, additional

Published
2015
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245. The plant decapeptide OSIP108 prevents copper-induced toxicity in various models for Wilson disease.

Author

UCL - SSS/IREC - Institut de recherche expérimentale et clinique, Spincemaille, Pieter, Pham, Duc-Hung, Chandhok, Gursimran, Verbeek, Jef, Zibert, Andree, Libbrecht, Louis, Schmidt, Hartmut, Esguerra, Camila V, de Witte, Peter A M, Cammue, Bruno P A, Cassiman, David, Thevissen, Karin, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, Spincemaille, Pieter, Pham, Duc-Hung, Chandhok, Gursimran, Verbeek, Jef, Zibert, Andree, Libbrecht, Louis, Schmidt, Hartmut, Esguerra, Camila V, de Witte, Peter A M, Cammue, Bruno P A, Cassiman, David, and Thevissen, Karin

Abstract

BACKGROUND: Wilson disease (WD) is caused by accumulation of excess copper (Cu) due to a mutation in the gene encoding the liver Cu transporter ATP7B, and is characterized by acute liver failure or cirrhosis and neuronal cell death. We investigated the effect of OSIP108, a plant derived decapeptide that prevents Cu-induced apoptosis in yeast and human cells, on Cu-induced toxicity in various mammalian in vitro models relevant for WD and in a Cu-toxicity zebrafish larvae model applicable to WD. METHODS: The effect of OSIP108 was evaluated on viability of various cell lines in the presence of excess Cu, on liver morphology of a Cu-treated zebrafish larvae strain that expresses a fluorescent reporter in hepatocytes, and on oxidative stress levels in wild type AB zebrafish larvae. RESULTS: OSIP108 increased not only viability of Cu-treated CHO cells transgenically expressing ATP7B and the common WD-causing mutant ATP7B(H1069Q), but also viability of Cu-treated human glioblastoma U87 cells. Aberrancies in liver morphology of Cu-treated zebrafish larvae were observed, which were further confirmed as Cu-induced hepatotoxicity by liver histology. Injections of OSIP108 into Cu-treated zebrafish larvae significantly increased the amount of larvae with normal liver morphology and decreased Cu-induced production of reactive oxygen species. CONCLUSIONS: OSIP108 prevents Cu-induced toxicity in in vitro models and in a Cu-toxicity zebrafish larvae model applicable to WD. GENERAL SIGNIFICANCE: All the above data indicate the potential of OSIP108 as a drug lead for further development as a novel WD treatment.

Published
2014

246. Hepatitis with brown pigment in the liver.

Author

UCL - SSS/IREC - Institut de recherche expérimentale et clinique, van Malenstein, Hannah, Libbrecht, Louis, Cassiman, David, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, van Malenstein, Hannah, Libbrecht, Louis, and Cassiman, David

Published
2014

249. Usefulness of the single-operator cholangioscopy system SpyGlass in biliary disease: a single-center prospective cohort study and aggregated review.

Author

Laleman, Wim, Verraes, Kristof, Steenbergen, Werner, Cassiman, David, Nevens, Frederik, Merwe, Schalk, Verslype, Chris, Van Steenbergen, Werner, and Van der Merwe, Schalk

Subjects
CHOLANGIOSCOPY, BILE duct examination, BILIOUS diseases & biliousness, ENDOSCOPIC retrograde cholangiopancreatography, ENDOSCOPY, BIOPSY, CATHETERIZATION, CHOLESTASIS, LONGITUDINAL method, DIGESTIVE system endoscopic surgery, EQUIPMENT & supplies
Abstract

Background and Study Aim: Indeterminate biliary strictures and difficult bile duct stones remain clinically arduous and challenging situations. We aimed to evaluate the utility of the single-operator cholangioscopy (SOC)-system SpyGlass in both conditions in a single-center biliopancreatic interventional unit and in perspective of available aggregated literature.Methods: Usefulness of SOC was assessed for the above-mentioned indications by means of the combination of successful procedural completion, clinical success and incidence of procedure-related adverse events in our own prospective cohort from 3/2010 to 7/2014 and all available literature till 6/2015.Results: Our single-center cohort constituted of 84 patients undergoing SpyGlass either for indeterminate strictures (n = 45) or difficult stones (n = 39). In addition, a comprehensive literature review yielded 851 patients (from 15 series) for either stenosis (n = 646, 75.9 %) and difficult stones (n = 205, 24.1 %). In our series, overall procedural success amounted to 85.7 % (with 88.9 % for stenosis or 82.1 % for stones) compared to 90.7, 91.5 and 88.3 % in overall literature, respectively. Sensitivity, specificity and accuracy for visual diagnosis in our cohort added up to 83.3, 82.9 and 82.9 % compared to 90.8, 90.9 and 90.8 % in the pooled analysis. Respective figures for SOC-directed biopsies totaled 85.7, 100 and 95.7 % in our cohort and 72.4, 100 and 84 % overall. Overall procedure-related complications varied between 9.4 and 21.4 %.Conclusions: The SOC-platform SpyGlass can be considered useful in the context of indeterminate biliary strictures and difficult-to-remove biliary stones. In both, SpyGlass-assisted intervention is associated with high procedural success and alters clinical outcome compared to conventional approaches with an acceptable safety profile. [ABSTRACT FROM AUTHOR]

Published
2017
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250. Hepatobiliary malignancies in Wilson disease

Author

Pfeiffenberger, Jan, primary, Mogler, Carolin, additional, Gotthardt, Daniel N., additional, Schulze‐Bergkamen, Henning, additional, Litwin, Thomasz, additional, Reuner, Ulrike, additional, Hefter, Harald, additional, Huster, Dominik, additional, Schemmer, Peter, additional, Członkowska, Anna, additional, Schirmacher, Peter, additional, Stremmel, Wolfgang, additional, Cassiman, David, additional, and Weiss, Karl Heinz, additional

Published
2014
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