التفاصيل البيبلوغرافية
| العنوان: |
Table_1_Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study.xlsx |
| المؤلفون: |
Khaled Atmar, Claudia A. L. Ruivenkamp, Louise Hooimeijer, Esther A. R. Nibbeling, Corien L. Eckhardt, Elise J. Huisman, Arjan C. Lankester, Marije Bartels, Gijs W. E. Santen, Frans J. Smiers, Mirjam van der Burg, Alexander B. Mohseny |
| سنة النشر: |
2022 |
| المجموعة: |
Frontiers: Figshare |
| مصطلحات موضوعية: |
Immunology, Applied Immunology (incl. Antibody Engineering, Xenotransplantation and T-cell Therapies), Autoimmunity, Cellular Immunology, Humoural Immunology and Immunochemistry, Immunogenetics (incl. Genetic Immunology), Innate Immunity, Transplantation Immunology, Tumour Immunology, Immunology not elsewhere classified, Genetic Immunology, Animal Immunology, Veterinary Immunology, bone marrow failure, BMF, aplastic anemia, AA, cytopenia, next-generation sequencing, diagnostics |
| الوصف: |
Background Severe multilineage cytopenia in childhood caused by bone marrow failure (BMF) often represents a serious condition requiring specific management. Patients are at risk for invasive infections and bleeding complications. Previous studies report low rates of identifiable causes of pediatric BMF, rendering most patients with a descriptive diagnosis such as aplastic anemia (AA). Methods We conducted a multi-center prospective cohort study in which an extensive diagnostic approach for pediatric patients with suspected BMF was implemented. After exclusion of malignant and transient causes of BMF, patients entered thorough diagnostic evaluation including bone marrow analysis, whole exome sequencing (WES) including copy number variation (CNV) analysis and/or single nucleotide polymorphisms (SNP) array analysis. In addition, functional and immunological evaluation were performed. Here we report the outcomes of the first 50 patients (2017-2021) evaluated by this approach. Results In 20 patients (40%) a causative diagnosis was made. In this group, 18 diagnoses were established by genetic analysis, including 14 mutations and 4 chromosomal deletions. The 2 remaining patients had short telomeres while no causative genetic defect was found. Of the remaining 30 patients (60%), 21 were diagnosed with severe aplastic anemia (SAA) based on peripheral multi-lineage cytopenia and hypoplastic bone marrow, and 9 were classified as unexplained cytopenia without bone marrow hypoplasia. In total 28 patients had undergone hematopoietic stem cell transplantation (HSCT) of which 22 patients with an unknown cause and 6 patients with an identified cause for BMF. Conclusion We conclude that a standardized in-depth diagnostic protocol as presented here, can increase the frequency of identifiable causes within the heterogeneous group of pediatric BMF. We underline the importance of full genetic analysis complemented by functional tests of all patients as genetic causes are not limited to patients with typical (syndromal) clinical ... |
| نوع الوثيقة: |
dataset |
| اللغة: |
unknown |
| Relation: |
https://figshare.com/articles/dataset/Table_1_Diagnostic_Value_of_a_Protocolized_In-Depth_Evaluation_of_Pediatric_Bone_Marrow_Failure_A_Multi-Center_Prospective_Cohort_Study_xlsx/19665714 |
| DOI: |
10.3389/fimmu.2022.883826.s002 |
| الاتاحة: |
https://doi.org/10.3389/fimmu.2022.883826.s002
https://figshare.com/articles/dataset/Table_1_Diagnostic_Value_of_a_Protocolized_In-Depth_Evaluation_of_Pediatric_Bone_Marrow_Failure_A_Multi-Center_Prospective_Cohort_Study_xlsx/19665714 |
| Rights: |
CC BY 4.0 |
| رقم الانضمام: |
edsbas.16DC5D15 |
| قاعدة البيانات: |
BASE |