Bone Marrow Failure Syndrome (BMFS) Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Cancers, Vol. 16, Pages 1420: Growth Charts for Shwachman & ndash;Diamond Syndrome at Ages 0 to 18 Years
Cancers, Vol. 16, Pages 1420: Growth Charts for Shwachman–Diamond Syndrome at Ages 0 to 18 Years Cancers doi: 10.3390/cancers16071420 Authors: Anna Pegoraro Valentino Bezzerri Gloria Tridello Cecilia Brignole Francesca Lucca Emily Pintani Cesare Danesino Simone Cesaro Francesca Fioredda Marco Cipolli Shwachman&ndash;Diamond syndrome (SDS) is one of the most common inherited bone marrow failure syndromes. SDS is characterized by hypocellular bone marrow, with a severe impairment of the myeloid lineage, resulting in neutropenia, thrombocytopenia, and, more rarely, anemia. Almost 15...
Source: Cancers - April 5, 2024 Category: Cancer & Oncology Authors: Anna Pegoraro Valentino Bezzerri Gloria Tridello Cecilia Brignole Francesca Lucca Emily Pintani Cesare Danesino Simone Cesaro Francesca Fioredda Marco Cipolli Tags: Communication Source Type: research

< em > Erratum < /em > to: Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes
Haematologica. 2024 Apr 1;109(4):1311. doi: 10.3324/haematol.2023.284760.NO ABSTRACTPMID:38562077 | DOI:10.3324/haematol.2023.284760 (Source: Haematologica)
Source: Haematologica - April 2, 2024 Category: Hematology Authors: Piers Blombery Lucy Fox Georgina L Ryland Ella R Thompson Jennifer Lickiss Michelle McBean Satwica Yerneni Alison Trainer David Hughes Anthea Greenway Francoise Mechinaud Erica M Wood Graham J Lieschke Jeff Szer Pasquale Barbaro John Roy Joel Wight Elly L Source Type: research

< em > Erratum < /em > to: Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes
Haematologica. 2024 Apr 1;109(4):1311. doi: 10.3324/haematol.2023.284760.NO ABSTRACTPMID:38562077 | PMC:PMC10985447 | DOI:10.3324/haematol.2023.284760 (Source: Haematologica)
Source: Haematologica - April 2, 2024 Category: Hematology Authors: Piers Blombery Lucy Fox Georgina L Ryland Ella R Thompson Jennifer Lickiss Michelle McBean Satwica Yerneni Alison Trainer David Hughes Anthea Greenway Francoise Mechinaud Erica M Wood Graham J Lieschke Jeff Szer Pasquale Barbaro John Roy Joel Wight Elly L Source Type: research

CRISPR/Cas9n-mediated ELANE promoter editing for gene therapy of severe congenital neutropenia
Mol Ther. 2024 Mar 30:S1525-0016(24)00215-6. doi: 10.1016/j.ymthe.2024.03.037. Online ahead of print.ABSTRACTSevere congenital neutropenia (CN) is an inherited pre-leukemia bone marrow failure syndrome commonly caused by autosomal-dominant ELANE mutations (ELANE-CN). ELANE-CN patients are treated with daily injections of recombinant human granulocyte colony-stimulating factor (rhG-CSF). However, some patients do not respond to rhG-CSF, and approximately 15% of ELANE-CN patients develop myelodysplasia or acute myeloid leukemia. Here, we report the development of a curative therapy for ELANE-CN through inhibition of ELANE mR...
Source: Molecular Medicine - April 1, 2024 Category: Molecular Biology Authors: Masoud Nasri Malte Ritter Perihan Mir Benjamin Dannenmann Masako M Kaufmann Patricia Arreba-Tutusaus Yun Xu Natalia Borbaran-Bravo Maksim Klimiankou Claudia Lengerke Cornelia Zeidler Toni Cathomen Karl Welte Julia Skokowa Source Type: research

A Case of Living-Donor Lobar Lung Transplantation for Dyskeratosis Congenita
Introduction: Dyskeratosis congenita (DKC) is a rare, multi-system disorder caused by telomere abnormality. Most patients with DKC develop inherited bone marrow failure syndrome that requires hematopoietic stem cell transplantation. DKC also causes interstitial pneumonia, and a few studies have reported cases of pulmonary arteriovenous malformations (AVMs) in patients with DKC. (Source: The Journal of Heart and Lung Transplantation)
Source: The Journal of Heart and Lung Transplantation - April 1, 2024 Category: Transplant Surgery Authors: , A. Ohsumi, M. Takahashi, S. Tanaka, Y. Yutaka, D. Nakajima, H. Date Source Type: research

A validated risk stratification that incorporates MAGIC biomarkers predicts long term outcomes in pediatric patients with acute GVHD
Allogeneic hematopoietic cell transplantation (HCT) cures large numbers of children with malignant and non-malignant diseases but not all children who might benefit receive the procedure, despite advances in donor selection and supportive care1-3. A major barrier to greater use of allogeneic HCT is the risk for developing acute graft-versus-host disease (GVHD), which occurs in about one third of children and causes substantial morbidity and mortality4-7. Advances in GVHD management are particularly important for children who undergo transplant for non-malignant diseases that are curable by allogeneic HCT and for which the ...
Source: Biology of Blood and Marrow Transplantation - March 26, 2024 Category: Hematology Authors: Muna Qayed, Urvi Kapoor, Scott Gillespie, Adrianna Westbrook, Paibel Aguayo-Hiraldo, A. Francis Ayuk, Mina Aziz, Janna Baez, Hannah Choe, Zachariah DeFilipp, Aaron Etra, Stephan A. Grupp, Elizabeth Hexner, Ernst Holler, William J. Hogan, Steven Kowalyk, P Source Type: research

A Validated Risk Stratification That Incorporates MAGIC Biomarkers Predicts Long-Term Outcomes in Pediatric Patients with Acute GVHD
Allogeneic hematopoietic cell transplantation (HCT) cures large numbers of children with malignant and nonmalignant diseases but not all children who might benefit receive the procedure, despite advances in donor selection and supportive care [1 –3]. A major barrier to greater use of allogeneic HCT is the risk for developing acute graft-versus-host disease (GVHD), which occurs in about one third of children and causes substantial morbidity and mortality [4–7]. Advances in GVHD management are particularly important for children who under go transplant for nonmalignant diseases that are curable by allogeneic HCT and for ...
Source: Biology of Blood and Marrow Transplantation - March 26, 2024 Category: Hematology Authors: Muna Qayed, Urvi Kapoor, Scott Gillespie, Adrianna Westbrook, Paibel Aguayo-Hiraldo, Francis A. Ayuk, Mina Aziz, Janna Baez, Hannah Choe, Zachariah DeFilipp, Aaron Etra, Stephan A. Grupp, Elizabeth Hexner, Ernst Holler, William J. Hogan, Steven Kowalyk, P Tags: Pediatric Source Type: research

Et barn med langvarig anemi
Tidsskr Nor Laegeforen. 2024 Mar 15;144(4). doi: 10.4045/tidsskr.23.0415. Print 2024 Mar 19.ABSTRACTBACKGROUND: Anemia in children is common and finding the underlying cause is often uncomplicated. However, in some cases, the underlying diagnosis is rare and difficult to diagnose.CASE PRESENTATION: A toddler presented with severe anemia with normal red cell indices and a low reticulocyte count. The remaining hematological parameters were normal, bar a slight thrombocytosis. At this point a diagnosis of transient erythroblastopenia of childhood (TEC) was made. The child continued to have slight anemia with intermittent macr...
Source: Tidsskrift for den Norske Laegeforening - March 20, 2024 Category: General Medicine Authors: Maria Winther Gunnes Andreas Benneche Anne Grete Bechensteen Source Type: research