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24 results on '"Cassiman, David"'

1. Plasma virome dynamics in chronic hepatitis B virus infected patients

Author

Thijssen, Marijn, Tacke, Frank, Van Espen, Lore, Cassiman, David, Aldine, Mahmoud Naser, Nevens, Frederik, Van Ranst, Marc, Matthijnssens, Jelle, and Pourkarim, Mahmoud Reza

Subjects
Microbiology (medical), virome, blood, pegivirus, anellovirus, metagenomic, hepatitis B virus, Microbiology, plasma
Abstract

The virome remains an understudied domain of the human microbiome. The role of commensal viruses on the outcome of infections with known pathogens is not well characterized. In this study we aimed to characterize the longitudinal plasma virome dynamics in chronic hepatitis B virus (HBV) infected patients. Eighty-five longitudinal plasma samples were collected from 12 chronic HBV infected individuals that were classified in the four stages of HBV infection. The virome was characterized with an optimized viral extraction protocol and deep-sequenced on a NextSeq 2500 platform. The plasma virome was primarily composed of members of the Anello- Flavi-, and Hepadnaviridae (HBV) families. The virome structure and dynamics did not correlate with the different stages of chronic HBV infection nor with the administration of antiviral therapy. We observed a higher intrapersonal similarity of viral contigs. Genomic analysis of viruses observed in multiple timepoint demonstrated the presence of a dynamic community. This study comprehensively assessed the blood virome structure in chronic HBV infected individuals and provided insights in the longitudinal development of this viral community.

Published
2023

2. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Author

Ferdinandusse, Sacha, McWalter, Kirsty, Te Brinke, Heleen, IJlst, Lodewijk, Mooijer, Petra M, Ruiter, Jos PN, van Lint, Alida EM, Pras-Raves, Mia, Wever, Eric, Millan, Francisca, Guillen Sacoto, Maria J, Begtrup, Amber, Tarnopolsky, Mark, Brady, Lauren, Ladda, Roger L, Sell, Susan L, Nowak, Catherine B, Douglas, Jessica, Tian, Cuixia, Ulm, Elizabeth, Perlman, Seth, Drack, Arlene V, Chong, Karen, Martin, Nicole, Brault, Jennifer, Brokamp, Elly, Toro, Camilo, Gahl, William A, Macnamara, Ellen F, Wolfe, Lynne, Undiagnosed Diseases Network, Waisfisz, Quinten, Zwijnenburg, Petra JG, Ziegler, Alban, Barth, Magalie, Smith, Rosemarie, Ellingwood, Sara, Gaebler-Spira, Deborah, Bakhtiari, Somayeh, Kruer, Michael C, van Kampen, Antoine HC, Wanders, Ronald JA, Waterham, Hans R, Cassiman, David, and Vaz, Frédéric M

Subjects
Pediatric, Genetics & Heredity, Clinical Sciences, Neurosciences, Undiagnosed Diseases Network, Aldehyde Oxidoreductases, Lipids, Hereditary, Phenotype, Clinical Research, Neurological, Genetics, Humans, Spastic Paraplegia, 2.1 Biological and endogenous factors, Aetiology, Ethers
Abstract

PurposeIn this study we investigate the disease etiology in 12 patients with de novo variants in FAR1 all resulting in an amino acid change at position 480 (p.Arg480Cys/His/Leu).MethodsFollowing next-generation sequencing and clinical phenotyping, functional characterization was performed in patients' fibroblasts using FAR1 enzyme analysis, FAR1 immunoblotting/immunofluorescence, and lipidomics.ResultsAll patients had spastic paraparesis and bilateral congenital/juvenile cataracts, in most combined with speech and gross motor developmental delay and truncal hypotonia. FAR1 deficiency caused by biallelic variants results in defective ether lipid synthesis and plasmalogen deficiency. In contrast, patients' fibroblasts with the de novo FAR1 variants showed elevated plasmalogen levels. Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production.ConclusionHeterozygous de novo variants affecting the Arg480 residue of FAR1 lead to an autosomal dominant disorder with a different disease mechanism than that of recessive FAR1 deficiency and a diametrically opposed biochemical phenotype. Our findings show that for patients with spastic paraparesis and bilateral cataracts, FAR1 should be considered as a candidate gene and added to gene panels for hereditary spastic paraplegia, cerebral palsy, and juvenile cataracts.

Published
2021

4. MOESM3 of Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

Author

Kimber Vliet, Ginkel, Willem, Jahja, Rianne, Daly, Anne, MacDonald, Anita, Laet, Corinne, Vara, Roshni, Yusof Rahman, Cassiman, David, Francois Eyskens, Timmer, Corrie, Mumford, Nicky, Bierau, Jörgen, Hasselt, Peter, Gissen, Paul, Goyens, Philippe, McKiernan, Patrick, Wilcox, Gisela, Morris, Andrew, Jameson, Elisabeth, Huijbregts, Stephan, and Francjan Spronsen

Abstract

Additional file 3. Summarized results of correlation analyses between phenylalanine and tyrosine concentrations and neurocognitive outcome scores. Summarized results of correlation analyses between phenylalanine and tyrosine concentrations and neurocognitive outcome scores. Only scales with significant correlations, with p-values

Published
2019
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5. MOESM1 of Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

Author

Kimber Vliet, Ginkel, Willem, Jahja, Rianne, Daly, Anne, MacDonald, Anita, Laet, Corinne, Vara, Roshni, Yusof Rahman, Cassiman, David, Francois Eyskens, Timmer, Corrie, Mumford, Nicky, Bierau, Jörgen, Hasselt, Peter, Gissen, Paul, Goyens, Philippe, McKiernan, Patrick, Wilcox, Gisela, Morris, Andrew, Jameson, Elisabeth, Huijbregts, Stephan, and Francjan Spronsen

Subjects
humanities
Abstract

Additional file 1. Correlations between ASEBA questionnaires and QoL questionnaires for children. Correlations between ASEBA questionnaires and QoL questionnaires for children (N = 19). Bold and underlined results are significant correlations. The QoL domain peers only consists of children aged 12–15 years (N = 5).

Published
2019
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16. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts (vol 48, pg 1185, 2016)

Author

Jenkinson, Emma M., Rodero, Mathieu P., Kasher, Paul R., Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C., Rose, Yoann, Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G., Bhaskar, Sanjeev S., O Sullivan, James, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Baranano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, Cordelli, Duccio M., Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenco, Charles M., Malpas, Timothy J., Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Ounap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Soh, Calvin, Stewart, Helen S., Stone, John, Esch, Hilde, Mol, Christine E. G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Graham Pavitt, Griffiths-Jones, Sam, Rice, Gillian I., Revy, Patrick, Knaap, Marjo S., Livingston, John H., O Keefe, Raymond T., Crow, Yanick J., Other departments, and Paediatric Neurology

23. Budd-Chiari syndrome : reassessment of a step-wise treatment strategy

Author

Martens, Pieter, Maleux, Geert Albert, Devos, Timothy, Diethard Monbaliu, Heye, Sam, Verslype, C., Laleman, Wim, Cassiman, David, Merwe, Schalk Willem, Steenbergen, Werner, Jochmans, Ina, Aerts, Raymond, Pirenne, Jacques, and Nevens, Frederik

Abstract

The Budd-Chiari syndrome is a rare disorder characterized by hepatic venous outflow obstruction. A step-wise management was recently proposed. The aim of this study is to reassess our treatment approach and long-term outcome.The data of 37 Budd-Chiari patients, seen in our unit, were critically analyzed and compared with the ENVIE (European Network For Vascular Disorders of the Liver) data.Most patients had multiple prothrombotic conditions (41%), of which an underlying myeloproliferative neoplasm was the most frequent (59%). The JAK2V617F mutation was associated with more complete occlusion of all hepatic veins (JAK2 mutation +: 70% vs JAK2 mutation -: 23% and a higher severity score. The step-wise treatment algorithm used in our unit, in function of the severity of the liver impairment and the number and the extension of hepatic veins occluded, resulted in the following treatments: only anticoagulation (n = 7.21%), recanalization procedure (n = 4.21%), portosystemic shunts (n = 9.26%) and liver transplantation (n = 14.44%). This resulted in a 10 year survival rate of 90%. Treatment of the underlying hemostatic disorder offered a low recurrence rate. None of the 21 patients with a myeloproliferative neoplasm died in relation to the hematologic disorder.An individualized treatment regimen consisting of anticoagulation and interventional radiology and/or transplantation when necessary and strict follow-up of the underlying hematologic disorder, provided an excellent long-term survival, which confirm the data of the ENVIE study.

24. Combined Liver and Kidney Transplantation

Author

Darius, Tom, Monbaliu, Diethard, Aerts, Raymond, Roskams, Tania, Lerut, Evelyne, Cassiman, David, Verslype, Chris, Laleman, Wim, Vanrenterghem, Yves, Nevens, Frederik, and Jacques PIRENNE

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