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2. Non-ceruloplasmin copper and urinary copper in clinically stable Wilson disease: Alignment with recommended targets

Author

Ott, Peter, Sandahl, Thomas, Ala, Aftab, Cassiman, David, Couchonnal-Bedoya, Eduardo, Cury, Rubens Gisbert, Czlonkowska, Anna, Denk, Gerald, D’Inca, Renata, de Assis Aquino Gondim, Francisco, Moore, Joanna, Poujois, Aurelia, Twardowschy, Carlos Alexandre, Weiss, Karl Heinz, Zuin, Massimo, Kamlin, C.Omar F., and Schilsky, Michael L.

Published
2024
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4. Tracer metabolomics reveals the role of aldose reductase in glycosylation

Author

Radenkovic, Silvia, Ligezka, Anna N., Mokashi, Sneha S., Driesen, Karen, Dukes-Rimsky, Lynn, Preston, Graeme, Owuocha, Luckio F., Sabbagh, Leila, Mousa, Jehan, Lam, Christina, Edmondson, Andrew, Larson, Austin, Schultz, Matthew, Vermeersch, Pieter, Cassiman, David, Witters, Peter, Beamer, Lesa J., Kozicz, Tamas, Flanagan-Steet, Heather, Ghesquière, Bart, and Morava, Eva

Published
2023
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5. Trientine tetrahydrochloride versus penicillamine for maintenance therapy in Wilson disease (CHELATE): a randomised, open-label, non-inferiority, phase 3 trial

Author

To, Uyen, Patel, Amar, Hettiarachchi, Daksshi, Giorgini, Alessia, Monico, Sara, Litwin, Tomasz, Piechal, Agnieszka, Skowronska, Marta, Lachaux, Alain, Belmalih, Abdelouahed, Boogers, Alexandra, Mohr, Isabelle, Langel, Andrea, Freitas, Christian, Barbosa, Egberto Reis, Sandahl, Thomas D, Gerdes, Lisbet, Obadia, Alexandre, Rahli, Djamila, Cosgrove, Jeremy, Schilsky, Michael L, Czlonkowska, Anna, Zuin, Massimo, Cassiman, David, Twardowschy, Carlos, Poujois, Aurelia, Gondim, Francisco de Assis A, Denk, Gerald, Cury, Rubens G, Ott, Peter, Moore, Joanna, Ala, Aftab, D'Inca, Renata, Couchonnal-Bedoya, Eduardo, D'Hollander, Koenraad, Dubois, Nicolas, Kamlin, C Omar F, and Weiss, Karl Heinz

Published
2022
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8. PPARγ lipodystrophy mutants reveal intermolecular interactions required for enhancer activation

Author

Madsen, Maria Stahl, Broekema, Marjoleine F., Madsen, Martin Rønn, Koppen, Arjen, Borgman, Anouska, Gräwe, Cathrin, Thomsen, Elisabeth G. K., Westland, Denise, Kranendonk, Mariette E. G., Koerkamp, Marian Groot, Hamers, Nicole, Bonvin, Alexandre M. J. J., Pittol, José M. Ramos, Natarajan, Kedar Nath, Kersten, Sander, Holstege, Frank C. P., Monajemi, Houshang, van Mil, Saskia W. C., Vermeulen, Michiel, Kragelund, Birthe B., Cassiman, David, Mandrup, Susanne, and Kalkhoven, Eric

Published
2022
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9. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

Author

Tromp, Tycho R., Hartgers, Merel L., Hovingh, G. Kees, Vallejo-Vaz, Antonio J., Ray, Kausik K., Soran, Handrean, Freiberger, Tomas, Bertolini, Stefano A., Harada-Shiba, Mariko, Pang, Jing, Watts, Gerald F., Greber-Platzer, Susanne, Mäser, Martin, Stulnig, Thomas M., Ebenbichler, Christoph F., Bin Thani, Khalid, Cassiman, David, Descamps, Olivier S., Rymen, Daisy, Witters, Peter, Santos, Raul D., Brunham, Liam R., Francis, Gordon A., Genest, Jacques, Hegele, Robert A., Kennedy, Brooke A., Ruel, Isabelle, Sherman, Mark H., Jiang, Long, Wang, Luya, Reiner, Željko, Blaha, Vladimir, Ceska, Richard, Dvorakova, Jana, Dlouhy, Lubomir, Horak, Pavel, Soska, Vladimir, Tichy, Lukas, Urbanek, Robin, Vaverkova, Helena, Vrablik, Michal, Zemek, Stanislav, Zlatohlavek, Lukas, Emil, Sameh, Naguib, Tarek, Reda, Ashraf, Béliard, Sophie, Bruckert, Eric, Gallo, Antonio, Elisaf, Moses S., Kolovou, Genovefa, Cohen, Hofit, Durst, Ronen, Dann, Eldad J., Elis, Avishay, Hussein, Osama, Leitersdorf, Eran, Schurr, Daniel, Setia, Nitika, Verma, Ishwar C., Alareedh, Mohammed D., Al-Khnifsawi, Mutaz, Abdalsahib Al-Zamili, Ali F., Rhadi, Sabah H., Shaghee, Foaad K., Arca, Marcello, Averna, Maurizio, Bartuli, Andrea, Bucci, Marco, Buonuomo, Paola S., Calabrò, Paolo, Calandra, Sebastiano, Casula, Manuela, Catapano, Alberico L., Cefalù, Angelo B., Cicero, Arrigo F.G., D'Addato, Sergio, D'Erasmo, Laura, Di Costanzo, Alessia, Fasano, Tommaso, Gazzotti, Marta, Giammanco, Antonina, Iannuzzo, Gabriella, Ibba, Anastasia, Negri, Emanuele A., Pasta, Andrea, Pavanello, Chiara, Pisciotta, Livia, Rabacchi, Claudio, Ripoli, Carlo, Sampietro, Tiziana, Sbrana, Francesco, Sileo, Fulvio, Suppressa, Patrizia, Tarugi, Patrizia, Trenti, Chiara, Zenti, Maria G., Hori, Mika, Ayesh, Mahmoud H., Azar, Sami T., Bitar, Fadi F., Fahed, Akl C., Moubarak, Elie M., Nemer, Georges, Nawawi, Hapizah M., Madriz, Ramón, Mehta, Roopa, Cupido, Arjen J., Defesche, Joep C., Reijman, M. Doortje, Roeters-van Lennep, Jeanine E., Stroes, Erik S.G., Wiegman, Albert, Zuurbier, Linda, Al-Waili, Khalid, Sadiq, Fouzia, Chlebus, Krzysztof, Bourbon, Mafalda, Gaspar, Isabel M., Lalic, Katarina S., Ezhov, Marat V., Susekov, Andrey V., Groselj, Urh, Charng, Min-Ji, Khovidhunkit, Weerapan, Aktan, Melih, Altunkeser, Bulent B., Demircioglu, Sinan, Kose, Melis, Gokce, Cumali, Ilhan, Osman, Kayikcioglu, Meral, Kaynar, Leyla G., Kuku, Irfan, Kurtoglu, Erdal, Okutan, Harika, Ozcebe, Osman I., Pekkolay, Zafer, Sag, Saim, Salcioglu, Osman Z., Temizhan, Ahmet, Yenercag, Mustafa, Yilmaz, Mehmet, Yilmaz Yasar, Hamiyet, Mitchenko, Olena, Lyons, Alexander R.M., Stevens, Christophe A.T., Brothers, Julie A., Hudgins, Lisa C., Nguyen, Christina, Alieva, Rano, Shek, Aleksandr, Do, Doan-Loi, Kim, Ngoc-Thanh, Le, Hong-An, Le, Thanh-Tung, Nguyen, Mai-Ngoc T., Truong, Thanh-Huong, Blom, Dirk J., Raal, Frederick J., Cuchel, Marina, Tromp, Tycho R, Hartgers, Merel L, Hovingh, G Kees, Vallejo-Vaz, Antonio J, Ray, Kausik K, Bertolini, Stefano, Blom, Dirk J, and Raal, Frederick J

Published
2022
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11. De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

Author

Li, Dong, Strong, Alanna, Shen, Kaitlyn M., Cassiman, David, Van Dyck, Maria, Linhares, Natalia Duarte, Valadares, Eugenia Ribeiro, Wang, Tiancheng, Pena, Sergio D. J., Jaeken, Jaak, Vergano, Samantha, Zackai, Elaine, Hing, Anne, Chow, Penny, Ganguly, Arupa, Scholz, Tasja, Bierhals, Tatjana, Philipp, Deindl, Hakonarson, Hakon, and Bhoj, Elizabeth

Published
2021
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13. Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients.

Author

Derks, Britt, Kumar, Varsha Shashi, Yadnik, Sai, Panis, Bianca, Bosch, Annet M., Cassiman, David, Janssen, Mirian C. H., Schuhmann, Teresa, Rubio‐Gozalbo, M. Estela, and Jansma, Bernadette M.

Abstract

Patients with classic galactosemia (CG), an inborn error of galactose metabolism, suffer from impairments in cognition, including language processing. Potential causes are atypical brain oscillations. Recent electroencephalogram (EEG) showed differences in the P300 event‐related‐potential (ERP) and alterations in the alpha/theta‐range during speech planning. This study investigated whether transcranial alternating current stimulation (tACS) at theta‐frequency compared to sham can cause a normalization of the ERP post stimulation and improves language performance. Eleven CG patients and fourteen healthy controls participated in two tACS‐sessions (theta 6.5 Hz/sham). They were engaged in an active language task, describing animated scenes at three moments, that is, pre/during/post stimulation. Pre and post stimulation, behavior (naming accuracy, voice‐onset‐times; VOT) and mean‐amplitudes of ERP were compared, by means of a P300 time‐window analysis and cluster‐based‐permutation testing during speech planning. The results showed that theta stimulation, not sham, significantly reduced naming error‐percentage in patients, not in controls. Theta did not systematically speed up naming beyond a general learning effect, which was larger for the patients. The EEG analysis revealed a significant pre‐post stimulation effect (P300/late positivity), in patients and during theta stimulation only. In conclusion, theta‐tACS improved accuracy in language performance in CG patients compared to controls and altered the P300 and late positive ERP‐amplitude, suggesting a lasting effect on neural oscillation and behavior. [ABSTRACT FROM AUTHOR]

Published
2024
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18. Tacrolimus Drug Exposure Level and Smoking Are Modifiable Risk Factors for Early De Novo Malignancy After Liver Transplantation for Alcohol-Related Liver Disease.

Author

Vanlerberghe, Benedict T. K., van Malenstein, Hannah, Sainz-Barriga, Mauricio, Jochmans, Ina, Cassiman, David, Monbaliu, Diethard, van der Merwe, Schalk, Pirenne, Jacques, Nevens, Frederik, and Verbeek, Jef

Subjects
LIVER transplantation, ALCOHOL-induced disorders, TACROLIMUS, LIVER diseases, SMOKING, CHOLANGITIS
Abstract

De novo malignancy (DNM) is the primary cause of mortality after liver transplantation (LT) for alcohol-related liver disease (ALD). However, data on risk factors for DNM development after LT are limited, specifically in patients with ALD. Therefore, we retrospectively analyzed all patients transplanted for ALD at our center before October 2016. Patients with a post- LT follow-up of <12 months, DNM within 12 months after LT, patients not on tacrolimus in the 1st year post-LT, and unknown smoking habits were excluded. Tacrolimus drug exposure level (TDEL) was calculated by area under the curve of trough levels in the 1st year post-LT. 174 patients received tacrolimus of which 19 (10.9%) patients developed a DNM between 12 and 60 months post-LT. Multivariate cox regression analysis identified TDEL [HR: 1.710 (1.211-2.414); p = 0.002], age [1.158 (1.076-1.246); p < 0.001], number of pack years pre-LT [HR: 1.021 (1.004--1.038); p = 0.014] and active smoking at LT [HR: 3.056 (1.072-8.715); p = 0.037] as independent risk factors for DNM. Tacrolimus dose minimization in the 1st year after LT and smoking cessation before LT might lower DNM risk in patients transplanted for ALD. [ABSTRACT FROM AUTHOR]

Published
2024
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22. 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

Published
2019
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24. 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

Published
2019
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27. Amino acid levels determine metabolism and CYP450 function of hepatocytes and hepatoma cell lines

Author

Boon, Ruben, Kumar, Manoj, Tricot, Tine, Elia, Ilaria, Ordovas, Laura, Jacobs, Frank, One, Jennifer, De Smedt, Jonathan, Eelen, Guy, Bird, Matthew, Roelandt, Philip, Doglioni, Ginevra, Vriens, Kim, Rossi, Matteo, Vazquez, Marta Aguirre, Vanwelden, Thomas, Chesnais, François, El Taghdouini, Adil, Najimi, Mustapha, Sokal, Etienne, Cassiman, David, Snoeys, Jan, Monshouwer, Mario, Hu, Wei-Shou, Lange, Christian, Carmeliet, Peter, Fendt, Sarah-Maria, and Verfaillie, Catherine M.

Published
2020
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28. Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

Author

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

Published
2019
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29. Brain function in classic galactosemia, a galactosemia network (GalNet) members review.

Author

Panis, Bianca, Vos, E. Naomi, Barić, Ivo, Bosch, Annet M., Brouwers, Martijn C. G. J., Burlina, Alberto, Cassiman, David, Coman, David J., Couce, María L., Das, Anibh M., Demirbas, Didem, Empain, Aurélie, Gautschi, Matthias, Grafakou, Olga, Grunewald, Stephanie, Kingma, Sandra D. K., Knerr, Ina, Leão-Teles, Elisa, Möslinger, Dorothea, and Murphy, Elaine

Subjects
GALACTOSEMIA, NEUROPSYCHOLOGICAL tests, BRAIN diseases, METABOLIC disorders, MEMORY loss, BRAIN metabolism, NEUROPSYCHOLOGY
Abstract

Classic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsychological/social emotional difficulties, neurological symptoms, and abnormalities in neuroimaging and electrophysiological assessments are frequently reported in this group of patients, with an enormous individual variability. In this review, we describe the role of impaired galactose metabolism on brain dysfunction based on state of the art knowledge. Several proposed disease mechanisms are discussed, as well as the time of damage and potential treatment options. Furthermore, we combine data from longitudinal, cross-sectional and retrospective studies with the observations of specialist teams treating this disease to depict the brain disease course over time. Based on current data and insights, the majority of patients do not exhibit cognitive decline. A subset of patients, often with early onset cerebral and cerebellar volume loss, can nevertheless experience neurological worsening. While a large number of patients with CG suffer from anxiety and depression, the increased complaints about memory loss, anxiety and depression at an older age are likely multifactorial in origin. [ABSTRACT FROM AUTHOR]

Published
2024
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31. Translatome analysis reveals altered serine and glycine metabolism in T-cell acute lymphoblastic leukemia cells

Author

Kampen, Kim R., Fancello, Laura, Girardi, Tiziana, Rinaldi, Gianmarco, Planque, Mélanie, Sulima, Sergey O., Loayza-Puch, Fabricio, Verbelen, Benno, Vereecke, Stijn, Verbeeck, Jelle, Op de Beeck, Joyce, Royaert, Jonathan, Vermeersch, Pieter, Cassiman, David, Cools, Jan, Agami, Reuven, Fiers, Mark, Fendt, Sarah-Maria, and De Keersmaecker, Kim

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

Author

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

Published
2015
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37. Response by Kusters et al to Letter Regarding Article, “Effect of Rosuvastatin on Carotid Intima-Media Thickness in Children With Heterozygous Familial Hypercholesterolemia: The CHARON Study (Hypercholesterolemia in Children and Adolescents Taking Rosuvastatin Open Label)”

Author

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

Published
2018
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39. Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network.

Author

Stein, Penelope E., Edel, Yonatan, Mansour, Razan, Mustafa, Reem A., Sandberg, Sverre, Aarsand, Aasne K., Anderson, Karl E., Badminton, Michael, Balwani, Manisha, Bonkovsky, Herbert L., Cappellini, Maria Domenica, Cassiman, David, Deybach, Jean‐Charles, El Mikati, Ibrahim, Gill, Liz, Gouya, Laurent, Harper, Pauline, Hift, Richard, Ivanova, Aneta, and Langendonk, Janneke G.

Abstract

Acute porphyrias are a group of rare inherited disorders causing acute neurovisceral attacks. Many terms used frequently in the literature and clinical practice are ambiguous, which can lead to confusion in the way patients are managed, studied, and reported in clinical studies. Agreed definitions are a necessary first step in developing management guidelines and will facilitate communication of results of future clinical research. The Delphi method was used to generate consensus on key terms and definitions in acute porphyria. The process started with a brainstorming phase offered to all members of the European Porphyria Network followed by two Delphi rounds among international experts in the field of porphyria (the Acute Porphyria Expert Panel). A consensus of 75% or more was defined as the agreement threshold. A total of 63 respondents from 26 countries participated in the brainstorming phase, leading to the choice of nine terms and definitions. A total of 34 experts were invited to take part in the Delphi rounds. Seven of the initial nine terms and definitions which entered the first Delphi round achieved the threshold for agreement. Following a second Delphi round, all nine definitions achieved agreement. Agreement on the definitions for nine important terms describing acute porphyrias represents a significant step forward for the porphyria community. It will facilitate more accurate comparison of outcomes among porphyria centres and in clinical trials and provide a strong framework for developing evidence‐based clinical guidelines. [ABSTRACT FROM AUTHOR]

Published
2023
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40. Utility and prognostic value of diagnosing MAFLD in patients undergoing liver transplantation for alcohol‐related liver disease.

Author

Vanlerberghe, Benedict T. K., van Malenstein, Hannah, Sainz‐Bariga, Mauricio, Jochmans, Ina, Cassiman, David, Monbaliu, Diethard, van der Merwe, Schalk, Pirenne, Jacques, Nevens, Frederik, and Verbeek, Jef

Subjects
PROGNOSIS, LIVER transplantation, ALCOHOL-induced disorders, FATTY liver, LIVER diseases, NON-alcoholic fatty liver disease, LIVER histology
Abstract

Background: Recently, the term metabolic dysfunction‐associated fatty liver disease (MAFLD) was proposed to replace non‐alcoholic fatty liver disease (NAFLD). This concept enables diagnosing liver disease associated with metabolic dysfunction in patients with alcohol‐related liver disease (ALD), a main indication for liver transplantation (LTx). We assessed MAFLD prevalence in ALD patients undergoing LTx and its prognostic value on post‐LTx outcomes. Methods: We retrospectively analyzed all ALD patients transplanted at our center between 1990 and August 2020. MAFLD was diagnosed based on the presence or history of hepatic steatosis and a BMI > 25 or type II diabetes or ≥ 2 metabolic risk abnormalities at LTx. Overall survival and risk factors for recurrent liver and cardiovascular events were analyzed by Cox regression. Results: Of the 371 included patients transplanted for ALD, 255 (68.7%) had concomitant MAFLD at LTx. Median follow‐up post‐LTx was 72 months (IQR: 34.50–122). Patients with ALD‐MAFLD were older at LTx (p =.001), more often male (p <.001) and more frequently had hepatocellular carcinoma (p <.001). No differences in perioperative mortality and overall survival were found. ALD‐MAFLD patients had an increased risk of recurrent hepatic steatosis, irrespective of alcohol relapse, but no superimposed risk of cardiovascular events. Conclusions: The co‐presence of MAFLD at LTx for ALD is associated with a distinct patient profile and is an independent risk factor for recurrent hepatic steatosis. The use of MAFLD criteria in ALD patients might increase awareness and treatment of specific hepatic and systemic metabolic abnormalities before and after LTx. [ABSTRACT FROM AUTHOR]

Published
2023
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47. Management dilemmas in pediatric nephrology: Cystinosis

Author

Besouw, Martine T. P., Van Dyck, Maria, Cassiman, David, Claes, Kathleen J., and Levtchenko, Elena N.

Subjects
Dilemma -- Research, Cystinosis -- Research -- Risk factors -- Development and progression -- Care and treatment -- Patient outcomes, Health
Abstract

Background Cystinosis is a rare, inherited autosomal recessive disease caused by the accumulation of free cystine in lysosomes. It is treated by the administration of cysteamine, which should be monitored by trough white blood cell (WBC) cystine measurements to ensure effective treatment. Case-Diagnosis/Treatment The index case had an older brother who had previously been diagnosed with cystinosis, allowing early diagnosis of the index case at the age of 5 months. Cysteamine therapy was started at the age of 3 years; however, monitoring of WBC cystine levels did not occur on a regular basis during most of his life. Growth retardation improved after correction of electrolyte disturbances, the initiation of cysteamine therapy and treatment with recombinant human growth hormone. Renal replacement therapy was started at the age of 11 years, and renal transplantation was performed at the age of 12 years. Extra-renal cystine accumulation caused multiple endocrinopathies (including adrenal insufficiency, hypothyroidism and primary hypogonadism), neurological symptoms, pancytopenia owing to splenomegaly and portal hypertension due to nodular regenerative hyperplasia, aggravated by splenic vein thrombosis and partial portal vein thrombosis. The patient died of diffuse intra-abdominal bleeding caused by severe portal hypertension. Conclusion Cysteamine treatment should be started as early as possible, and dosage should be monitored and adapted based on trough WBC cystine levels. Relevant international guideline Emma F et al. (2014) Nephropathic cystinosis: an international consensus document. Nephrol Dial Transplant 29:iv87-iv94., Author(s): Martine T. P. Besouw[sup.1] , Maria Van Dyck[sup.2] , David Cassiman[sup.3] , Kathleen J. Claes[sup.4] , Elena N. Levtchenko[sup.2] Author Affiliations: (1) Department of Pediatric Nephrology, University Hospital Ghent, [...]

Published
2015
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48. 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 Reza Pourkarim, Mahmoud

Subjects
CHRONIC hepatitis B, PLASMA dynamics, HEPATITIS B virus, HEPATITIS B, HUMAN microbiota, VIRUS diseases, PLANT viruses
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. Eightyfive 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. [ABSTRACT FROM AUTHOR]

Published
2023
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