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16 results on '"Saes, Joline L."'

2. High prevalence of heavy menstrual bleeding in women with rare bleeding disorders in the Netherlands: retrospective data from the RBiN study

Author

Maas, D.P.M.S.M., Saes, J.L., Meijer, K., Cnossen, M.H., Schutgens, R.E.G., Peters, M., Nieuwenhuizen, L., den Exter, P.L., Kruis, I.C., van Heerde, W.L., Schols, S.E.M., Maas, Dominique P.M.S.M., Saes, Joline L., Blijlevens, Nicole M.A., Cnossen, Marjon H., den Exter, Paul L., van der Heijden, Olivier W.H., Kruis, Ilmar C., Meijer, Karina, Peters, Marjolein, Schutgens, Roger E.G., van Heerde, Waander L., Nieuwenhuizen, Laurens, and Schols, Saskia E.M.

Published
2023
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3. High prevalence of postpartum hemorrhage in women with rare bleeding disorders in the Netherlands: retrospective data from the RBiN study

Author

Maas, D.P.M.S.M., Saes, J.L., Meijer, K., Cnossen, M.H., Schutgens, R.E.G., Peters, M., Nieuwenhuizen, L., Exter, P.L. den, Kruis, I.C., van Heerde, W.L., Schols, S.E.M., Maas, Dominique P.M.S.M., Saes, Joline L., Blijlevens, Nicole M.A., Cnossen, Marjon H., den Exter, Paul L., van der Heijden, Olivier W.H., Kruis, Ilmar C., Meijer, Karina, Peters, Marjolein, Schutgens, Roger E.G., van Heerde, Waander L., Nieuwenhuizen, Laurens, and Schols, Saskia E.M.

Published
2023
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5. Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study

Author

Poli Van Creveldkliniek Medisch, Child Health, Circulatory Health, Infection & Immunity, Willems, Sterre P.E., Simons, Annet, Saes, Joline L., Weiss, Marjan, Rijpma, Sanna, Schoormans, Selene, Meijer, Karina, Cnossen, Marjon H., Schutgens, Roger E.G., van Es, Nick, Nieuwenhuizen, Laurens, den Exter, Paul L., Kruis, Ilmar C., Blijlevens, Nicole M.A., van Heerde, Waander L., Schols, Saskia E.M., Poli Van Creveldkliniek Medisch, Child Health, Circulatory Health, Infection & Immunity, Willems, Sterre P.E., Simons, Annet, Saes, Joline L., Weiss, Marjan, Rijpma, Sanna, Schoormans, Selene, Meijer, Karina, Cnossen, Marjon H., Schutgens, Roger E.G., van Es, Nick, Nieuwenhuizen, Laurens, den Exter, Paul L., Kruis, Ilmar C., Blijlevens, Nicole M.A., van Heerde, Waander L., and Schols, Saskia E.M.

Published
2024

6. Targeted exome analysis in patients with rare bleeding disorders:data from the Rare Bleeding Disorders in the Netherlands study

Author

Willems, Sterre P.E., Simons, Annet, Saes, Joline L., Weiss, Marjan, Rijpma, Sanna, Schoormans, Selene, Meijer, Karina, Cnossen, Marjon H., Schutgens, Roger E.G., van Es, Nick, Nieuwenhuizen, Laurens, den Exter, Paul L., Kruis, Ilmar C., Blijlevens, Nicole M.A., van Heerde, Waander L., Schols, Saskia E.M., Willems, Sterre P.E., Simons, Annet, Saes, Joline L., Weiss, Marjan, Rijpma, Sanna, Schoormans, Selene, Meijer, Karina, Cnossen, Marjon H., Schutgens, Roger E.G., van Es, Nick, Nieuwenhuizen, Laurens, den Exter, Paul L., Kruis, Ilmar C., Blijlevens, Nicole M.A., van Heerde, Waander L., and Schols, Saskia E.M.

Abstract

Background: Rare coagulation factor deficiencies and disorders of fibrinolysis (defined as rare bleeding disorders [RBDs]) present with a heterogeneous bleeding phenotype, and bleeding severity is difficult to predict. Objectives: Describe underlying rare genetic variants in the Dutch RBD population and investigate the relationship between genotype, laboratory phenotype, and clinical phenotype. Methods: The Rare Bleeding Disorders in the Netherlands is a cross-sectional, nationwide study conducted between October 1, 2017, and November 30, 2019. Bleeding scores and blood samples were collected during a single study visit. Coagulation factor levels were measured centrally, and targeted exome analysis was performed on 156 genes involved in thrombosis and hemostasis. Pathogenicity was assigned according to the Association for Clinical Genetic Science guidelines. Results: Rare genetic variants specific to the diagnosed RBD were found in 132 of 156 patients (85%). Of the 214 rare genetic variants identified, 57% (n = 123) were clearly pathogenic, 19% (n = 40) were likely pathogenic, and 24% (n = 51) were variants of unknown significance. No explanatory genetic variants were found in patients with plasminogen activator inhibitor type 1 deficiency or hyperfibrinolysis. A correlation existed between factor activity levels and the presence of a genetic variant in the corresponding gene in patients with rare coagulation factor deficiencies and alpha-2-antiplasmin deficiency. Co-occurrence of multiple genetic variants was present in a quarter of patients, but effect on phenotype remains unclear. Conclusion: Targeted exome analysis may offer advantages over single-gene analysis, emphasized by a number of combined deficiencies in this study. Further studies are required to determine the role of co-occurring hemostasis gene variants on the bleeding phenotype in RBDs.

Published
2024

8. Treatment of patients with rare bleeding disorders in the Netherlands:Real-life data from the RBiN study

Author

Maas, Dominique P.M.S.M., Saes, Joline L., Blijlevens, Nicole M.A., Cnossen, Marjon H, den Exter, Paul L., Kruis, Ilmar C., Meijer, Karina, Nieuwenhuizen, Laurens, Peters, Marjolein, Schutgens, Roger E.G., van Heerde, Waander L., Schols, Saskia E.M., Maas, Dominique P.M.S.M., Saes, Joline L., Blijlevens, Nicole M.A., Cnossen, Marjon H, den Exter, Paul L., Kruis, Ilmar C., Meijer, Karina, Nieuwenhuizen, Laurens, Peters, Marjolein, Schutgens, Roger E.G., van Heerde, Waander L., and Schols, Saskia E.M.

Abstract

Background: Patients with rare inherited bleeding disorders (RBDs) exhibit hemorrhagic symptoms, varying in type and severity, often requiring only on-demand treatment. Prolonged bleeding after invasive procedures is common. Adequate peri-procedural therapy may reduce this bleeding risk. Objective: To describe general treatment plans of RBD patients and evaluate the use of peri-procedural hemostatic therapy. Methods: In the Rare Bleeding Disorders in the Netherlands (RBiN) study, RBD patients from all six Dutch Hemophilia Treatment Centers were included. General treatment plans were extracted from patient files. Patients with a dental or surgical procedure in their history were interviewed about use of peri-procedural treatment and bleeding complications. Results: Two-hundred sixty-three patients with a rare coagulation factor deficiency or fibrinolytic disorder were included. Eighty-four percent had a documented general treatment plan. General treatment plans of patients with the same RBD were heterogeneous, particularly in factor XI deficiency. Overall, 308 dental and 408 surgical procedures were reported. Bleeding occurred in 50% of dental and 53% of surgical procedures performed without hemostatic treatment and in 28% of dental and 19% of surgical procedures performed with hemostatic treatment. Not only patients with severe RBDs, but also patients with mild deficiencies, experienced increased bleeding without proper hemostatic treatment. Conclusion: Large heterogeneity in general treatment plans of RBD patients was found. Bleeding after invasive procedures was reported frequently, both before and after RBD diagnosis, irrespective of factor activity levels and particularly when peri-procedural treatment was omitted. Improved guidelines should include uniform recommendations for most appropriate hemostatic products per RBD and emphasize the relevance of individual bleeding history.

Published
2022

9. Bleeding severity in patients with rare bleeding disorders: real-life data from the RBiN study

Author

Secretariaat Hematologie, Poli Van Creveldkliniek Medisch, TN groep Pasterkamp, Circulatory Health, Infection & Immunity, Saes, Joline L, Verhagen, Marieke J A, Meijer, Karina, Cnossen, Marjon H, Schutgens, Roger E G, Peters, Marjolein, Nieuwenhuizen, Laurens, van der Meer, Felix J M, Kruis, Ilmar C, van Heerde, Waander L, Schols, Saskia E M, Secretariaat Hematologie, Poli Van Creveldkliniek Medisch, TN groep Pasterkamp, Circulatory Health, Infection & Immunity, Saes, Joline L, Verhagen, Marieke J A, Meijer, Karina, Cnossen, Marjon H, Schutgens, Roger E G, Peters, Marjolein, Nieuwenhuizen, Laurens, van der Meer, Felix J M, Kruis, Ilmar C, van Heerde, Waander L, and Schols, Saskia E M

Published
2020

10. Platelet CD34 expression in a patient with a partial deletion of transcription factor subunit CBFB

Author

Genetica Klinische Genetica, Child Health, Cancer, van Bergen, Maaike G J M, Saes, Joline L, Simons, Annet, Hebeda, Konnie M, Henskens, Yvonne M C, Barteling, Wideke, Huys, Erik, Laros-van Gorkom, Britta A P, Schols, Saskia E M, Preijers, Frank W, Jongmans, Marjolijn C J, Jansen, Joop H, van der Reijden, Bert A, Genetica Klinische Genetica, Child Health, Cancer, van Bergen, Maaike G J M, Saes, Joline L, Simons, Annet, Hebeda, Konnie M, Henskens, Yvonne M C, Barteling, Wideke, Huys, Erik, Laros-van Gorkom, Britta A P, Schols, Saskia E M, Preijers, Frank W, Jongmans, Marjolijn C J, Jansen, Joop H, and van der Reijden, Bert A

Published
2020

11. Platelet CD34 expression in a patient with a partial deletion of transcription factor subunit CBFB

Author

Bergen, Maaike G.J.M., primary, Saes, Joline L., additional, Simons, Annet, additional, Hebeda, Konnie M., additional, Henskens, Yvonne M.C., additional, Barteling, Wideke, additional, Huys, Erik, additional, Laros‐van Gorkom, Britta A.P., additional, Schols, Saskia E.M., additional, Preijers, Frank W., additional, Jongmans, Marjolijn C.J., additional, Jansen, Joop H., additional, and Reijden, Bert A., additional

Published
2020
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13. Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis

Author

Saes, Joline L, Simons, Annet, de Munnik, Sonja A, Nijziel, Marten R, Blijlevens, Nicole M A, Jongmans, Marjolijn C, van der Reijden, Bert A, Smit, Yolba, Brons, Paul P, van Heerde, Waander L, Schols, Saskia E M, Saes, Joline L, Simons, Annet, de Munnik, Sonja A, Nijziel, Marten R, Blijlevens, Nicole M A, Jongmans, Marjolijn C, van der Reijden, Bert A, Smit, Yolba, Brons, Paul P, van Heerde, Waander L, and Schols, Saskia E M

Published
2019

14. Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis

Author

Genetica Klinische Genetica, Cancer, Saes, Joline L, Simons, Annet, de Munnik, Sonja A, Nijziel, Marten R, Blijlevens, Nicole M A, Jongmans, Marjolijn C, van der Reijden, Bert A, Smit, Yolba, Brons, Paul P, van Heerde, Waander L, Schols, Saskia E M, Genetica Klinische Genetica, Cancer, Saes, Joline L, Simons, Annet, de Munnik, Sonja A, Nijziel, Marten R, Blijlevens, Nicole M A, Jongmans, Marjolijn C, van der Reijden, Bert A, Smit, Yolba, Brons, Paul P, van Heerde, Waander L, and Schols, Saskia E M

Published
2019

15. Platelet CD34 Expression and a Congenital Collar Bone Malformation Associated with a Partial CBFB Deletion in a Case with a Bleeding Disorder

Author

van Bergen, Maaike G.J.M., primary, Saes, Joline L., additional, Simons, Annet, additional, Hebeda, Konnie M., additional, Henskens, Yvonne M.C., additional, Laros-vanGorkom, Britta A.P., additional, Schols, Saskia E.M., additional, Preijers, Frank W.M.B., additional, Jongmans, Marjolijn C., additional, Jansen, Joop H., additional, and Van der Reijden, Bert A., additional

Published
2019
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16. Platelet CD34 expression in a patient with a partial deletion of transcription factor subunit CBFB.

Author

van Bergen MGJM, Saes JL, Simons A, Hebeda KM, Henskens YMC, Barteling W, Huys E, Laros-van Gorkom BAP, Schols SEM, Preijers FW, Jongmans MCJ, Jansen JH, and van der Reijden BA

Subjects
Adult, Female, Humans, Antigens, CD34 biosynthesis, Antigens, CD34 genetics, Base Sequence, Core Binding Factor beta Subunit genetics, Core Binding Factor beta Subunit metabolism, Gene Expression Regulation, Sequence Deletion
Published
2020
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