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4. Advancing Allogeneic Hematopoietic Stem Cell Transplantation Outcomes through Immunotherapy: A Comprehensive Review of Optimizing Non-CAR Donor T-Lymphocyte Infusion Strategies.

Author

Braidotti, Stefania, Granzotto, Marilena, Curci, Debora, Faganel Kotnik, Barbara, and Maximova, Natalia

Subjects
REGULATORY T cells, IMMUNOLOGIC memory, T cells, BLOOD diseases, CLINICAL medicine, HEMATOPOIETIC stem cell transplantation, STEM cell transplantation
Abstract

Optimized use of prophylactic or therapeutic donor lymphocyte infusions (DLI) is aimed at improving clinical outcomes in patients with malignant and non-malignant hematological diseases who have undergone allogeneic hematopoietic stem cell transplantation (allo-HSCT). Memory T-lymphocytes (CD45RA−/CD45RO+) play a crucial role in immune reconstitution post-HSCT. The infusion of memory T cells is proven to be safe and effective in improving outcomes due to the enhanced reconstitution of immunity and increased protection against viremia, without exacerbating graft-versus-host disease (GVHD) risks. Studies indicate their persistence and efficacy in combating viral pathogens, suggesting a viable therapeutic avenue for patients. Conversely, using virus-specific T cells for viremia control presents challenges, such as regulatory hurdles, cost, and production time compared to CD45RA-memory T lymphocytes. Additionally, the modulation of regulatory T cells (Tregs) for therapeutic use has become an important area of investigation in GVHD, playing a pivotal role in immune tolerance modulation, potentially mitigating GVHD and reducing pharmacological immunosuppression requirements. Finally, donor T cell-mediated graft-versus-leukemia immune responses hold promise in curbing relapse rates post-HSCT, providing a multifaceted approach to therapeutic intervention in high-risk disease scenarios. This comprehensive review underscores the multifaceted roles of T lymphocytes in HSCT outcomes and identifies avenues for further research and clinical application. [ABSTRACT FROM AUTHOR]

Published
2024
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5. Platelet lumiaggregation testing: Reference intervals and the effect of acetylsalicylic acid in healthy adults

Author

Trampuš-Bakija Alenka, Jazbec Janez, and Faganel Kotnik Barbara

Subjects
blood platelets, platelet aggregation, platelet function test, reference values, Biochemistry, QD415-436
Abstract

Background: Light transmission aggregometry with lumiaggregometry are methods commonly recommended as a first-line test in platelet dysfunction diagnostic work-up. They are poorly standardized and usually performed in specialized laboratories. For proper interpretation, each laboratory should establish its own diagnostic approach in order to recognize abnormal aggregation patterns. The aim of this study was to measure plasma lumiaggregometry with basic agonists to establish the analyzer-reagent reference intervals (RI) for adults and to test the method response to aspirin. Methods: The Chrono-Log Model 700 lumiaggregometer using Chrono-Par and Chrono-lume reagents (Chrono-Log Corp., Havertown, PA, USA) was used to measure the maximal aggregation and adenosine triphosphate release using adenosine diphosphate (2 mmol/L), collagen (2 mg/mL), arachidonic acid (1 mmol/L), epinephrine (5.5 mmol/L) and ristocetin (1.25 mg/mL), and thrombin (1 U/mL). The effect of aspirin on platelet aggregation and granule release was inspected. Results: RIs derived from 40 healthy adults were calculated using the non-parametric approach. Wider intervals and low lower limits were determined for weak agonist as well as absence or impaired aggregation in up to one of 7 healthy controls. The response of platelets to aspirin shows response comparable to previously reported study. Conclusions: Locally established RI in our study enable us to investigate platelet function in patients with a high probability of bleeding disorders. Values are agonist and equipment specific. The variability of the method can be reduced by considering standardized preanalytical and analytical variables. Pathological results must be interpreted in the context of other hemostasis test results and clinical findings.

Published
2020

6. Using pharmacokinetics for tailoring prophylaxis in people with hemophilia switching between clotting factor products: A scoping review

Author

Yu, Jacky K., Iorio, Alfonso, Edginton, Andrea N., Ahuja, Sanjay, Álvarez Román, Ma Teresa, Arrieta, Ma E., Arola, Mikko, Barillari, Giovanni, Balasa, Vinod, Belletrutti, Mark, Berrueco Moreno, Ruben, Beurrier, Philippe, Bidlingmaier, Cristoph, Blanchette, Victor, Blatny, Jan, Bonanad, Santiago, Brose, Kelsey, Brown, Deborah, Byant, Paulette C., Canaro, Mariana, Carvalho, Manuela, Catarino, Cristina, Chitlur, Meera, Cockrell, Erin, Chowdary, Pratima, Cnossen, Marjon, Collins, Peter, Coppens, Michial, Croteau, Stacy, Cultrera, Dorina, de Cristofaro, Raimundo, de Raucourt, Emmauelle, Desprez, Dominique, Dunn, Amy, El‐Ekiabi, Magda, Faganel Kotnik, Barbara, Fischer, Kathleen, Frotscher, Brigit, Garbiero, Susana, Garrido Ruiz, Raquel, Gill, Joan, Gomez del Castillo, Carmen, Gottstein, Saskia, Lassandro, Giuseppe, Giordano, Paola, Hart, Daniel, Hegemann, Inga, Hermans, Cedric, Hua, Baolai, Hwang, Nina, Jackson, Shannon, James, Paula, Katsarou, Olga, Kavakli, Kaan, Kempton, Christine, Kentouche, Karim, Khan, Osman, Kobelt, Rainer, Kruse‐Jarres, Rebecca, Laane, Edward, Larson, Eric, Lassila, Riitta, Lee, Adrienne, Poon, Man‐Chiu, Lissick, Jennifer, Langstrom, Satu, Mahlangu, Johnny, Makris, Michael, Marchesini, Emmanuela, Mateo, Jose, Marco Vera, Pacual, Martorell, Marta, Matsushita, Tadashi, McCrae, Simon, Mignot‐Castellano, Eva, Montcrieff, Caitlin, Maes, Philip, Mondelars, Veerle, Bekart, Marlies, Mora, Elena, Cristóbal Morales, Juan, Mourey, Guillaume, Bertrand, Marie Ann, Napolitano, Mariasanta, Siragusa, Sergio, Negrier, Claude, Neme, Daniela, Niinimaki, Ritta, Oldenburg, Johannes, Albert, Thilo, Ornstein, Deborah, Ozelo, Margarete, Panetta, John Carl, Neufeld, Ellis J., P'Ng, Stephanie, Peerlinck, Kathelijne, Pollio, Berardino, Pouplard, Claire, Gruel, Yves, Prezotti, Alessandra, Price, Vicky, Primacakti, Fitri, Puyade, Mathieu, Radossi, Paolo, Raffini, Leslie, Ragni, Margaret, Rangarajan, Savita, Reding, Mark T., Reid, Robin, Restrepo, Jose, Ramirez, Jose, Recht, Michael, Rodriguez Lopez, Manuel, Ruiz‐Sàez, Arlette, Saleh, Mahasen, Shapiro, Amy, Sharathkumar, Anjali, Selmeczi, Anna, Simpson, Mindy, Singleton, Tami, Cruz, Maria Sol, Soto, Veronica, Steele, MacGregor, Streif, Werner, Sun, Hao Wei, Ritchie, Bruce, Sun, Jing, Feng, Xiaqin, Suzuki, Takashi, Nagao, Asuza, Takemoto, Cliff, Tapp, Heather, Teitel, Jerry, Tinmouth, Alan, Thornburg, Courtney, Tosseto, Alberto, Turnstall, Oliver, Vezina, Catherine, Warren, Beth, Wheeler, Allison, Wilches Gutierrez, Juan D., Wu, John K.M., Wynn, Tung, Yang, Renchi, Young, Guy, Zanon, Ezio, and Zupan, Irena

Published
2019
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8. Advantage of First-Line Therapeutic Drug Monitoring-Driven Use of Infliximab for Treating Acute Intestinal and Liver GVHD in Children: A Prospective, Single-Center Study

Author

Maximova, Natalia, primary, Nisticò, Daniela, additional, Riccio, Guglielmo, additional, Maestro, Alessandra, additional, Barbi, Egidio, additional, Faganel Kotnik, Barbara, additional, Marcuzzi, Annalisa, additional, Rimondi, Erika, additional, and Di Paolo, Antonello, additional

Published
2023
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10. Data from Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes

Author

Clarke, Matthew, primary, Mackay, Alan, primary, Ismer, Britta, primary, Pickles, Jessica C., primary, Tatevossian, Ruth G., primary, Newman, Scott, primary, Bale, Tejus A., primary, Stoler, Iris, primary, Izquierdo, Elisa, primary, Temelso, Sara, primary, Carvalho, Diana M., primary, Molinari, Valeria, primary, Burford, Anna, primary, Howell, Louise, primary, Virasami, Alex, primary, Fairchild, Amy R., primary, Avery, Aimee, primary, Chalker, Jane, primary, Kristiansen, Mark, primary, Haupfear, Kelly, primary, Dalton, James D., primary, Orisme, Wilda, primary, Wen, Ji, primary, Hubank, Michael, primary, Kurian, Kathreena M., primary, Rowe, Catherine, primary, Maybury, Mellissa, primary, Crosier, Stephen, primary, Knipstein, Jeffrey, primary, Schüller, Ulrich, primary, Kordes, Uwe, primary, Kram, David E., primary, Snuderl, Matija, primary, Bridges, Leslie, primary, Martin, Andrew J., primary, Doey, Lawrence J., primary, Al-Sarraj, Safa, primary, Chandler, Christopher, primary, Zebian, Bassel, primary, Cairns, Claire, primary, Natrajan, Rachael, primary, Boult, Jessica K.R., primary, Robinson, Simon P., primary, Sill, Martin, primary, Dunkel, Ira J., primary, Gilheeney, Stephen W., primary, Rosenblum, Marc K., primary, Hughes, Debbie, primary, Proszek, Paula Z., primary, Macdonald, Tobey J., primary, Preusser, Matthias, primary, Haberler, Christine, primary, Slavc, Irene, primary, Packer, Roger, primary, Ng, Ho-Keung, primary, Caspi, Shani, primary, Popović, Mara, primary, Faganel Kotnik, Barbara, primary, Wood, Matthew D., primary, Baird, Lissa, primary, Davare, Monika Ashok, primary, Solomon, David A., primary, Olsen, Thale Kristin, primary, Brandal, Petter, primary, Farrell, Michael, primary, Cryan, Jane B., primary, Capra, Michael, primary, Karremann, Michael, primary, Schittenhelm, Jens, primary, Schuhmann, Martin U., primary, Ebinger, Martin, primary, Dinjens, Winand N.M., primary, Kerl, Kornelius, primary, Hettmer, Simone, primary, Pietsch, Torsten, primary, Andreiuolo, Felipe, primary, Driever, Pablo Hernáiz, primary, Korshunov, Andrey, primary, Hiddingh, Lotte, primary, Worst, Barbara C., primary, Sturm, Dominik, primary, Zuckermann, Marc, primary, Witt, Olaf, primary, Bloom, Tabitha, primary, Mitchell, Clare, primary, Miele, Evelina, primary, Colafati, Giovanna Stefania, primary, Diomedi-Camassei, Francesca, primary, Bailey, Simon, primary, Moore, Andrew S., primary, Hassall, Timothy E.G., primary, Lowis, Stephen P., primary, Tsoli, Maria, primary, Cowley, Mark J., primary, Ziegler, David S., primary, Karajannis, Matthias A., primary, Aquilina, Kristian, primary, Hargrave, Darren R., primary, Carceller, Fernando, primary, Marshall, Lynley V., primary, von Deimling, Andreas, primary, Kramm, Christof M., primary, Pfister, Stefan M., primary, Sahm, Felix, primary, Baker, Suzanne J., primary, Mastronuzzi, Angela, primary, Carai, Andrea, primary, Vinci, Maria, primary, Capper, David, primary, Popov, Sergey, primary, Ellison, David W., primary, Jacques, Thomas S., primary, Jones, David T.W., primary, and Jones, Chris, primary

Published
2023
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11. Supplementary Data from Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes

Author

Clarke, Matthew, primary, Mackay, Alan, primary, Ismer, Britta, primary, Pickles, Jessica C., primary, Tatevossian, Ruth G., primary, Newman, Scott, primary, Bale, Tejus A., primary, Stoler, Iris, primary, Izquierdo, Elisa, primary, Temelso, Sara, primary, Carvalho, Diana M., primary, Molinari, Valeria, primary, Burford, Anna, primary, Howell, Louise, primary, Virasami, Alex, primary, Fairchild, Amy R., primary, Avery, Aimee, primary, Chalker, Jane, primary, Kristiansen, Mark, primary, Haupfear, Kelly, primary, Dalton, James D., primary, Orisme, Wilda, primary, Wen, Ji, primary, Hubank, Michael, primary, Kurian, Kathreena M., primary, Rowe, Catherine, primary, Maybury, Mellissa, primary, Crosier, Stephen, primary, Knipstein, Jeffrey, primary, Schüller, Ulrich, primary, Kordes, Uwe, primary, Kram, David E., primary, Snuderl, Matija, primary, Bridges, Leslie, primary, Martin, Andrew J., primary, Doey, Lawrence J., primary, Al-Sarraj, Safa, primary, Chandler, Christopher, primary, Zebian, Bassel, primary, Cairns, Claire, primary, Natrajan, Rachael, primary, Boult, Jessica K.R., primary, Robinson, Simon P., primary, Sill, Martin, primary, Dunkel, Ira J., primary, Gilheeney, Stephen W., primary, Rosenblum, Marc K., primary, Hughes, Debbie, primary, Proszek, Paula Z., primary, Macdonald, Tobey J., primary, Preusser, Matthias, primary, Haberler, Christine, primary, Slavc, Irene, primary, Packer, Roger, primary, Ng, Ho-Keung, primary, Caspi, Shani, primary, Popović, Mara, primary, Faganel Kotnik, Barbara, primary, Wood, Matthew D., primary, Baird, Lissa, primary, Davare, Monika Ashok, primary, Solomon, David A., primary, Olsen, Thale Kristin, primary, Brandal, Petter, primary, Farrell, Michael, primary, Cryan, Jane B., primary, Capra, Michael, primary, Karremann, Michael, primary, Schittenhelm, Jens, primary, Schuhmann, Martin U., primary, Ebinger, Martin, primary, Dinjens, Winand N.M., primary, Kerl, Kornelius, primary, Hettmer, Simone, primary, Pietsch, Torsten, primary, Andreiuolo, Felipe, primary, Driever, Pablo Hernáiz, primary, Korshunov, Andrey, primary, Hiddingh, Lotte, primary, Worst, Barbara C., primary, Sturm, Dominik, primary, Zuckermann, Marc, primary, Witt, Olaf, primary, Bloom, Tabitha, primary, Mitchell, Clare, primary, Miele, Evelina, primary, Colafati, Giovanna Stefania, primary, Diomedi-Camassei, Francesca, primary, Bailey, Simon, primary, Moore, Andrew S., primary, Hassall, Timothy E.G., primary, Lowis, Stephen P., primary, Tsoli, Maria, primary, Cowley, Mark J., primary, Ziegler, David S., primary, Karajannis, Matthias A., primary, Aquilina, Kristian, primary, Hargrave, Darren R., primary, Carceller, Fernando, primary, Marshall, Lynley V., primary, von Deimling, Andreas, primary, Kramm, Christof M., primary, Pfister, Stefan M., primary, Sahm, Felix, primary, Baker, Suzanne J., primary, Mastronuzzi, Angela, primary, Carai, Andrea, primary, Vinci, Maria, primary, Capper, David, primary, Popov, Sergey, primary, Ellison, David W., primary, Jacques, Thomas S., primary, Jones, David T.W., primary, and Jones, Chris, primary

Published
2023
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12. Supplementary Table S3 from Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes

Author

Clarke, Matthew, primary, Mackay, Alan, primary, Ismer, Britta, primary, Pickles, Jessica C., primary, Tatevossian, Ruth G., primary, Newman, Scott, primary, Bale, Tejus A., primary, Stoler, Iris, primary, Izquierdo, Elisa, primary, Temelso, Sara, primary, Carvalho, Diana M., primary, Molinari, Valeria, primary, Burford, Anna, primary, Howell, Louise, primary, Virasami, Alex, primary, Fairchild, Amy R., primary, Avery, Aimee, primary, Chalker, Jane, primary, Kristiansen, Mark, primary, Haupfear, Kelly, primary, Dalton, James D., primary, Orisme, Wilda, primary, Wen, Ji, primary, Hubank, Michael, primary, Kurian, Kathreena M., primary, Rowe, Catherine, primary, Maybury, Mellissa, primary, Crosier, Stephen, primary, Knipstein, Jeffrey, primary, Schüller, Ulrich, primary, Kordes, Uwe, primary, Kram, David E., primary, Snuderl, Matija, primary, Bridges, Leslie, primary, Martin, Andrew J., primary, Doey, Lawrence J., primary, Al-Sarraj, Safa, primary, Chandler, Christopher, primary, Zebian, Bassel, primary, Cairns, Claire, primary, Natrajan, Rachael, primary, Boult, Jessica K.R., primary, Robinson, Simon P., primary, Sill, Martin, primary, Dunkel, Ira J., primary, Gilheeney, Stephen W., primary, Rosenblum, Marc K., primary, Hughes, Debbie, primary, Proszek, Paula Z., primary, Macdonald, Tobey J., primary, Preusser, Matthias, primary, Haberler, Christine, primary, Slavc, Irene, primary, Packer, Roger, primary, Ng, Ho-Keung, primary, Caspi, Shani, primary, Popović, Mara, primary, Faganel Kotnik, Barbara, primary, Wood, Matthew D., primary, Baird, Lissa, primary, Davare, Monika Ashok, primary, Solomon, David A., primary, Olsen, Thale Kristin, primary, Brandal, Petter, primary, Farrell, Michael, primary, Cryan, Jane B., primary, Capra, Michael, primary, Karremann, Michael, primary, Schittenhelm, Jens, primary, Schuhmann, Martin U., primary, Ebinger, Martin, primary, Dinjens, Winand N.M., primary, Kerl, Kornelius, primary, Hettmer, Simone, primary, Pietsch, Torsten, primary, Andreiuolo, Felipe, primary, Driever, Pablo Hernáiz, primary, Korshunov, Andrey, primary, Hiddingh, Lotte, primary, Worst, Barbara C., primary, Sturm, Dominik, primary, Zuckermann, Marc, primary, Witt, Olaf, primary, Bloom, Tabitha, primary, Mitchell, Clare, primary, Miele, Evelina, primary, Colafati, Giovanna Stefania, primary, Diomedi-Camassei, Francesca, primary, Bailey, Simon, primary, Moore, Andrew S., primary, Hassall, Timothy E.G., primary, Lowis, Stephen P., primary, Tsoli, Maria, primary, Cowley, Mark J., primary, Ziegler, David S., primary, Karajannis, Matthias A., primary, Aquilina, Kristian, primary, Hargrave, Darren R., primary, Carceller, Fernando, primary, Marshall, Lynley V., primary, von Deimling, Andreas, primary, Kramm, Christof M., primary, Pfister, Stefan M., primary, Sahm, Felix, primary, Baker, Suzanne J., primary, Mastronuzzi, Angela, primary, Carai, Andrea, primary, Vinci, Maria, primary, Capper, David, primary, Popov, Sergey, primary, Ellison, David W., primary, Jacques, Thomas S., primary, Jones, David T.W., primary, and Jones, Chris, primary

Published
2023
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16. Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant

Author

Sikonja, Jaka, primary, Brecelj, Jernej, additional, Zerjav Tansek, Mojca, additional, Repic Lampret, Barbka, additional, Drole Torkar, Ana, additional, Klemencic, Simona, additional, Lipovec, Neza, additional, Stefanova Kralj, Valentina, additional, Bertok, Sara, additional, Kovac, Jernej, additional, Faganel Kotnik, Barbara, additional, Tesarova, Marketa, additional, Remec, Ziga Iztok, additional, Debeljak, Marusa, additional, Battelino, Tadej, additional, and Groselj, Urh, additional

Published
2022
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18. A Cross-National Survey of People Living with Hemophilia: Impact on Daily Living and Patient Education in Central Europe

Author

Banchev,Atanas, Batorova,Angelika, Faganel Kotnik,Barbara, Kiss,Csongor, Puras,Gediminas, Zapotocka,Ester, Zupancic-Salek,Silva, Banchev,Atanas, Batorova,Angelika, Faganel Kotnik,Barbara, Kiss,Csongor, Puras,Gediminas, Zapotocka,Ester, and Zupancic-Salek,Silva

Abstract

Atanas Banchev,1 Angelika Batorova,2 Barbara Faganel Kotnik,3 Csongor Kiss,4 Gediminas Puras,5 Ester Zapotocka,6 Silva Zupancic-Salek7 On behalf of the Patient Advocacy Group1Department of Pediatric Hematology and Oncology, University Hospital ‘Tzaritza Giovanna – ISUL’, Sofia, Bulgaria; 2National Hemophilia Center, Department of Hematology and Transfusion Medicine, Faculty of Medicine of Comenius University and University Hospital, Bratislava, Slovakia; 3Department of Oncology and Hematology, University Children’s Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia; 4Department of Pediatric Hematology-Oncology, Institute of Pediatrics, University of Debrecen, Debrecen, Hungary; 5Department of Medical Affairs CEER, Swedish Orphan Biovitrum AG, Basel, Switzerland; 6Department of Pediatric Hematology/Oncology, University Hospital Motol, Prague, Czech Republic; 7Department of Medicine, University Hospital Center Zagreb, Zagreb, CroatiaCorrespondence: Silva Zupancic-SalekDepartment of Medicine, University Hospital Centre Zagreb, Rebro, Kispatic Str 12, Zagreb, 10 000, CroatiaTel +385 1 337 5199Fax +385 1 332 4650Email silva.zupancic-salek@zg.htnet.hrBackground: Information about the impact of hemophilia on daily living and information preferences for patients and their caregivers in Central Europe has been limited.Methods: This cross-national survey was conducted between April 1 and October 15, 2020 and utilized a self-administered questionnaire to collect data (Typeform™) from people living with hemophilia in Bulgaria, Croatia, Czech Republic, Hungary, Slovakia and Slovenia. The questionnaire included 22 questions regarding difficulties in daily life and preferences for receiving hemophilia-related information. Respondents were stratified into two main groups, people with hemophilia (PwH) or their caregivers (CPwH). Results were analyzed using descriptive statistics.Results: Of the 364 respondents, 232 we

Published
2021

19. HEALTH-RELATED QUALITY OF LIFE IN PATIENTS WITH HAEMOPHILIA AND ITS ASSOCIATION WITH DEPRESSIVE SYMPTOMS: A STUDY IN CROATIA AND SLOVENIA

Author

Bago, Martina, Butkovic, Ana, Faganel Kotnik, Barbara, Prga, Ivana, Bačić Vrca, Vesna, Zupančić Šalek, Silva, Preloznik Zupan, Irena, Bago, Martina, Butkovic, Ana, Faganel Kotnik, Barbara, Prga, Ivana, Bačić Vrca, Vesna, Zupančić Šalek, Silva, and Preloznik Zupan, Irena

Abstract

Background: There are only a few studies in patients with haemophilia (PWH) that examined both quality of life and depressive symptoms, with only few studies examining their association. Aim of this study was to examine the association between depressive symptoms and health-related quality of life (HRQoL) in PWH from Croatia and Slovenia. Subjects and methods: A total of 112 adult PWH on prophylactic (73%) or on-demand (27%) treatment were included in the study (median age 46 years, range 18-73 years). Depressive symptoms were assessed with BDI-II, HRQoL with SF-36v2, demographic and socioeconomic data were collected using a questionnaire, and clinical data were obtained from medical records. Results: All HRQoL scores were significantly negatively correlated with BDI-II in the -0.42 to -0.70 range (all p<0.05). Sociodemographic and clinical variables explained 28-51% of HRQoL variance scores. Depressive symptoms explained additional variance for six HRQoL domain scores, with incremental variance being larger for mental domain scores (ranging between 10- 27%), and for Mental Component Summary score (26%). Conclusions: This study’s findings support that having depressive symptoms is associated with HRQoL of PWH, more so in the mental health than in the physical health domains.

Published
2021

29. Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes

Author

Clarke, Matthew, primary, Mackay, Alan, additional, Ismer, Britta, additional, Pickles, Jessica C., additional, Tatevossian, Ruth G., additional, Newman, Scott, additional, Bale, Tejus A., additional, Stoler, Iris, additional, Izquierdo, Elisa, additional, Temelso, Sara, additional, Carvalho, Diana M., additional, Molinari, Valeria, additional, Burford, Anna, additional, Howell, Louise, additional, Virasami, Alex, additional, Fairchild, Amy R., additional, Avery, Aimee, additional, Chalker, Jane, additional, Kristiansen, Mark, additional, Haupfear, Kelly, additional, Dalton, James D., additional, Orisme, Wilda, additional, Wen, Ji, additional, Hubank, Michael, additional, Kurian, Kathreena M., additional, Rowe, Catherine, additional, Maybury, Mellissa, additional, Crosier, Stephen, additional, Knipstein, Jeffrey, additional, Schüller, Ulrich, additional, Kordes, Uwe, additional, Kram, David E., additional, Snuderl, Matija, additional, Bridges, Leslie, additional, Martin, Andrew J., additional, Doey, Lawrence J., additional, Al-Sarraj, Safa, additional, Chandler, Christopher, additional, Zebian, Bassel, additional, Cairns, Claire, additional, Natrajan, Rachael, additional, Boult, Jessica K.R., additional, Robinson, Simon P., additional, Sill, Martin, additional, Dunkel, Ira J., additional, Gilheeney, Stephen W., additional, Rosenblum, Marc K., additional, Hughes, Debbie, additional, Proszek, Paula Z., additional, Macdonald, Tobey J., additional, Preusser, Matthias, additional, Haberler, Christine, additional, Slavc, Irene, additional, Packer, Roger, additional, Ng, Ho-Keung, additional, Caspi, Shani, additional, Popović, Mara, additional, Faganel Kotnik, Barbara, additional, Wood, Matthew D., additional, Baird, Lissa, additional, Davare, Monika Ashok, additional, Solomon, David A., additional, Olsen, Thale Kristin, additional, Brandal, Petter, additional, Farrell, Michael, additional, Cryan, Jane B., additional, Capra, Michael, additional, Karremann, Michael, additional, Schittenhelm, Jens, additional, Schuhmann, Martin U., additional, Ebinger, Martin, additional, Dinjens, Winand N.M., additional, Kerl, Kornelius, additional, Hettmer, Simone, additional, Pietsch, Torsten, additional, Andreiuolo, Felipe, additional, Driever, Pablo Hernáiz, additional, Korshunov, Andrey, additional, Hiddingh, Lotte, additional, Worst, Barbara C., additional, Sturm, Dominik, additional, Zuckermann, Marc, additional, Witt, Olaf, additional, Bloom, Tabitha, additional, Mitchell, Clare, additional, Miele, Evelina, additional, Colafati, Giovanna Stefania, additional, Diomedi-Camassei, Francesca, additional, Bailey, Simon, additional, Moore, Andrew S., additional, Hassall, Timothy E.G., additional, Lowis, Stephen P., additional, Tsoli, Maria, additional, Cowley, Mark J., additional, Ziegler, David S., additional, Karajannis, Matthias A., additional, Aquilina, Kristian, additional, Hargrave, Darren R., additional, Carceller, Fernando, additional, Marshall, Lynley V., additional, von Deimling, Andreas, additional, Kramm, Christof M., additional, Pfister, Stefan M., additional, Sahm, Felix, additional, Baker, Suzanne J., additional, Mastronuzzi, Angela, additional, Carai, Andrea, additional, Vinci, Maria, additional, Capper, David, additional, Popov, Sergey, additional, Ellison, David W., additional, Jacques, Thomas S., additional, Jones, David T.W., additional, and Jones, Chris, additional

Published
2020
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33. Prevalence of Endocrine and Metabolic Comorbidities in a National Cohort of Patients with Craniopharyngioma

Author

Jazbinšek, Sončka, primary, Kolenc, Danijela, additional, Bošnjak, Roman, additional, Faganel Kotnik, Barbara, additional, Zadravec Zaletel, Lorna, additional, Jenko Bizjan, Barbara, additional, Vipotnik Vesnaver, Tina, additional, Battelino, Tadej, additional, Janež, Andrej, additional, Jensterle, Mojca, additional, and Kotnik, Primož, additional

Published
2020
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35. Detection and evaluation of haemophilic arthropathy: Which tools may be considered more reliable.

Author

Plut, Domen, Faganel Kotnik, Barbara, Preložnik Zupan, Irena, Ključevšek, Damjana, Vidmar, Gaj, Snoj, Žiga, and Salapura, Vladka

Subjects
*MAGNETIC resonance imaging, *JOINT diseases, *DIAGNOSTIC imaging, *EXTRACELLULAR matrix proteins, *VITAMIN D
Abstract

Introduction: Progressive arthropathy is the main cause of morbidity in patients with severe haemophilia. Diagnostic imaging can detect even subclinical arthropathy and impact prophylactic treatment. However, in most clinical settings the regular joint evaluation and follow‐up are based on clinical evaluation and patient's personal reporting of problems, while diagnostic imaging is not regularly employed. Aim: The aim of our prospective study was to assess how ultrasound (US), clinical examination, patient's subjective assessment and certain laboratory biomarkers correlate with magnetic resonance imaging (MRI) for detection and evaluation of haemophilic arthropathy in order to determine which tool is the most reliable. Methods: The study included 30 patients with severe haemophilia (age range 16‐49 years). MRI (IPSG), US (HEAD‐US), clinical examination (HJHS 2.1) and patient's subjective assessment of elbows, knees and ankles were performed; additionally, blood samples for laboratory analysis were taken (s‐25‐OH vitamin D, s‐ferritin, s‐C‐terminal telopeptide of type I collagen, s‐N‐terminal propeptide of type I procollagen and s‐cartilage oligomeric matrix protein). MRI results were used as a reference standard for joint status. Pearson's r was used to assess correlation of other methods with MRI. Results: The correlation with MRI was the highest for US (r =.92), considerably higher than for clinical evaluation (r =.62) and patient's subjective assessment (r =.66). There was no correlation between the presence or degree of haemophilic arthropathy and any of the laboratory biomarkers. Conclusion: The results of our study warrant the inclusion of US into the regular follow‐up of patients with severe haemophilia, where the equipment and staffing permit. [ABSTRACT FROM AUTHOR]

Published
2021
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37. Nacionalna priporočila za obravnavo bolnikov s hemofilijo

Author

Benedik Dolničar, Majda, primary, Faganel Kotnik, Barbara, additional, Kitanovski, Lidija, additional, Preložnik Zupan, Irena, additional, Anžej Doma, Saša, additional, Debeljak, Maruša, additional, Pajič, Tadej, additional, Jazbec, Janez, additional, Dovč, Petra, additional, Tomaževič, Tanja, additional, Matičič, Mojca, additional, Tomažič, Janez, additional, Tul Mandić, Nataša, additional, and Trampuš Bakija, Alenka, additional

Published
2017
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40. Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase ( FAH ) intronic disease-causing variant.

Author

Sikonja J, Brecelj J, Zerjav Tansek M, Repic Lampret B, Drole Torkar A, Klemencic S, Lipovec N, Stefanova Kralj V, Bertok S, Kovac J, Faganel Kotnik B, Tesarova M, Remec ZI, Debeljak M, Battelino T, and Groselj U

Abstract

Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism that leads to severe liver, kidney, and neurological dysfunction. Newborn screening (NBS) can enable a timely diagnosis and early initiation of treatment. We presented the follow up of the only two Slovenian patients diagnosed with HT1. Metabolic control was monitored by measuring tyrosine, phenylalanine and succinylacetone from dried blood spots (DBSs). Retrograde screening of HT1 was performed from DBSs taken at birth using tandem mass spectrometry. First patient was diagnosed at the age of 6 months in the asymptomatic phase due to an abnormal liver echogenicity, the other presented at 2.5 months with an acute liver failure and needed a liver transplantation. The first was a compound heterozygote for a novel FAH intronic variant c.607-21A>G and c.192G>T whereas the second was homozygous for c.192G>T. At the non-transplanted patient, 66% of tyrosine and 79% of phenylalanine measurements were in strict reference ranges of 200-400 μmol/L and >30 μmol/L, respectively, which resulted in a favorable cognitive outcome at 3.6 years. On retrograde screening, both patients had elevated SA levels; on the other hand, tyrosine was elevated only at one. We showed that non-coding regions should be analyzed when clinical and biochemical markers are characteristic of HT1. DBSs represent a convenient sample type for frequent amino acid monitoring. Retrograde diagnosis of HT1 was possible after more than three years of birth with SA as a primary marker, complemented by tyrosine., Competing Interests: Authors declare no conflicts of interest., (© 2021 The Authors.)

Published
2021
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41. Health-Related Quality of Life in Patients with Haemophilia and Its Association with Depressive Symptoms: A Study in Croatia and Slovenia.

Author

Bago M, Butkovic A, Faganel Kotnik B, Prga I, Bačić Vrca V, Zupančić Šalek S, and Preloznik Zupan I

Subjects
Adolescent, Adult, Aged, Croatia epidemiology, Depression epidemiology, Humans, Middle Aged, Slovenia epidemiology, Surveys and Questionnaires, Young Adult, Hemophilia A, Quality of Life
Abstract

Background: There are only a few studies in patients with haemophilia (PWH) that examined both quality of life and depressive symptoms, with only few studies examining their association. Aim of this study was to examine the association between depressive symptoms and health-related quality of life (HRQoL) in PWH from Croatia and Slovenia., Subjects and Methods: A total of 112 adult PWH on prophylactic (73%) or on-demand (27%) treatment were included in the study (median age 46 years, range 18-73 years). Depressive symptoms were assessed with BDI-II, HRQoL with SF-36v2, demographic and socioeconomic data were collected using a questionnaire, and clinical data were obtained from medical records., Results: All HRQoL scores were significantly negatively correlated with BDI-II in the -0.42 to -0.70 range (all p<0.05). Socio-demographic and clinical variables explained 28-51% of HRQoL variance scores. Depressive symptoms explained additional variance for six HRQoL domain scores, with incremental variance being larger for mental domain scores (ranging between 10-27%), and for Mental Component Summary score (26%)., Conclusions: This study's findings support that having depressive symptoms is associated with HRQoL of PWH, more so in the mental health than in the physical health domains.

Published
2021
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