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.

A case of KAT6A syndrome with a newly discovered mutation in the < em > KAT6A < /em > gene, mainly manifested as bone marrow failure syndrome
Conclusion: This study not only provides us with an in-depth understanding of this rare syndrome but also deepens our understanding of the function of KAT6A.PMID:36880793 | DOI:10.1080/16078454.2023.2182159 (Source: Hematology)
Source: Hematology - March 7, 2023 Category: Hematology Authors: Qi Ai Lihua Jiang Yun Chen Xiuyun Yao Jing Yin Sen Chen Source Type: research

Recent advances in the diagnosis and treatment of pediatric acquired aplastic anemia
Int J Hematol. 2023 Mar 3. doi: 10.1007/s12185-023-03564-4. Online ahead of print.ABSTRACTAcquired aplastic anemia (AA) in children is a rare bone marrow failure that requires several special considerations for its diagnosis and treatment compared with that in adults. The most common issue is the differential diagnosis with refractory cytopenia of childhood and inherited bone marrow failure syndromes, which is crucial for making decisions on the appropriate treatment for pediatric AA. In addition to detailed morphological evaluation, a comprehensive diagnostic work-up that includes genetic analysis using next-generation se...
Source: International Journal of Hematology - March 3, 2023 Category: Hematology Authors: Nao Yoshida Source Type: research

GSE225613 Loss of Dnajc21 leads to cytopenia and altered nucleotide metabolism in zebrafish
Contributors : S Ketharnathan ; S V PrykhozhijSeries Type : Expression profiling by high throughput sequencingOrganism : Danio rerioMutations in the DNAJC21 gene were recently described in Shwachman-Diamond syndrome (SDS), a bone marrow failure syndrome with high predisposition for myeloid malignancies. To study the underlying biology in hematopoiesis regulation and disease, we generated the first in vivo model of Dnajc21 deficiency using zebrafish. Zebrafish dnajc21 mutants phenocopy key SDS patient phenotypes such as cytopenia, reduced growth and defective ribosome biogenesis. We show that cytopenia results from impaire...
Source: GEO: Gene Expression Omnibus - March 1, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Danio rerio Source Type: research

Risk Factors for Graft Failure in Children Undergoing Hematopoietic Cell Transplant (HCT) for Hemoglobinopathies, Bone Marrow Failure Syndromes, Severe Aplastic Anemia, Inborn Errors of Metabolism and Primary Immune Deficiencies
(Source: Biology of Blood and Marrow Transplantation)
Source: Biology of Blood and Marrow Transplantation - February 1, 2023 Category: Hematology Authors: David Crawford, Jorge Galvez Silva, Deepak Chellapandian, Michael Joyce, Reema Kashif, Jordan Milner, Mansi Dalal, Kevin O. McNerney, Jessica Cline, John Fort, Paul Castillo, John A Ligon, Warren Alperstein, Edward Ziga, Shu Wang, Biljana Horn Tags: POSTER SESSION: HEMOGLOBINOPATHIES, PRIMARY IMMUNE DEFICIENCIES AND DYSREGULATION, AND INBORN ERRORS OF IMMUNITY Source Type: research

A Novel ERCC6L2-Associated Inherited Bone Marrow Failure Syndrome Associated with Severe Aplastic Anemia and Clonal Evolution Requiring Hematopoietic Cell Transplant
(Source: Biology of Blood and Marrow Transplantation)
Source: Biology of Blood and Marrow Transplantation - February 1, 2023 Category: Hematology Authors: Asma Ali, Asmaa Ferdjallah, Shakila P Khan, Abhishek Mangaonkar, Pavel Pichurin, Alejandro Ferrer, Laura J Ongie, Mrinal M. Patnaik, Mira Kohorst Tags: POSTER SESSION: HEMATOPOIETIC STEM CELL NICHE, BIOLOGY, EXPANSION & MARROW FAILURE SYNDROMES Source Type: research

Impact of Abatacept in Patients with Inherited Bone Marrow Failure Syndromes
(Source: Biology of Blood and Marrow Transplantation)
Source: Biology of Blood and Marrow Transplantation - February 1, 2023 Category: Hematology Authors: Ms. Zahra Hudda, Nicholas J. Gloude, Adam Lane, Deborah Schiff, Eric Anderson, Parinda A. Mehta, Stella M. Davies, Kasiani Myers Tags: POSTER SESSION: GRAFT-VERSUS-HOST AND GRAFT VERSUS TUMOR - CLINICAL: PREVENTION, TREATMENT AND BIOMARKERS Source Type: research

The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile myelomonocytic leukemia
AbstractUpdating the classification of hematologic neoplasia with germline predisposition, pediatric myelodysplastic syndrome (MDS), and juvenile myelomonocytic leukemia (JMML) is critical for diagnosis, therapy, research, and clinical trials. Advances in next-generation sequencing technology have led to the identification of an expanding group of genes that predispose to the development of hematolymphoid neoplasia when mutated in germline configuration and inherited. This review encompasses recent advances in the classification of myeloid and lymphoblastic neoplasia with germline predisposition summarizing important genet...
Source: Virchows Archiv - November 29, 2022 Category: Pathology Source Type: research

Haploidentical Hematopoietic Stem Cell Transplantation in a 3-Year-Old Girl with Congenital Amegakaryocytic Thrombocytopenia: A Case Report
Klin Padiatr. 2022 Nov;234(6):388-390. doi: 10.1055/a-1933-2583. Epub 2022 Nov 15.ABSTRACTCongenital amegakaryocytic thrombocytopenia (CAMT) is an autosomal recessive disorder characterized by severe thrombocytopenia that presents soon after birth and is usually not accompanied by specific somatic malformations [Germeshausen M, Ballmaier M. Best Pract Res Clin Haematol 2021; 34: 101286]. CAMT is more prevalent in females than males [Ballmaier M, Germeshausen M. Semin Thromb Hemost 2011; 37: 673-681; Germeshausen M, Ballmaier M. Haematologica 2021; 106: 2439-2448], in contrast to other congenital bone marrow failure syndrom...
Source: Haematologica - November 15, 2022 Category: Hematology Authors: Sisi Wang Xue Yang Yuan Ai Yiping Zhu Source Type: research

Haploidentical Hematopoietic Stem Cell Transplantation in a 3-Year-Old Girl with Congenital Amegakaryocytic Thrombocytopenia: A Case Report
Klin Padiatr 2022; 234: 388-390 DOI: 10.1055/a-1933-2583Congenital amegakaryocytic thrombocytopenia (CAMT) is an autosomal recessive disorder characterized by severe thrombocytopenia that presents soon after birth and is usually not accompanied by specific somatic malformations [Germeshausen M, Ballmaier M. Best Pract Res Clin Haematol 2021; 34: 101286]. CAMT is more prevalent in females than males [Ballmaier M, Germeshausen M. Semin Thromb Hemost 2011; 37: 673–681; Germeshausen M, Ballmaier M. Haematologica 2021; 106: 2439–2448], in contrast to ot...
Source: Klinische Padiatrie - November 15, 2022 Category: Pediatrics Authors: Wang, Sisi Yang, Xue Ai, Yuan Zhu, Yiping Tags: Short Communication Source Type: research

Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2 ‐mutation carriers
The common ALDH2 variant rs671 severely aggravates DNA repair-deficient disorder Fanconi anemia, and it is expected that breast cancer developed in BRCA1/2 mutation carriers are similarly affected. Now we elucidated this is not the case in the actual patient cohort, highlighting cell type-specific differences in the protection/detoxification mediated by ALDH2. AbstractThe aldehyde degrading function of the ALDH2 enzyme is impaired by Glu504Lys polymorphisms (rs671, termed A allele), which causes alcohol flushing in east Asians, and elevates the risk of esophageal cancer among habitual drinkers. Recent studies suggested tha...
Source: Cancer Medicine - November 8, 2022 Category: Cancer & Oncology Authors: Tomoharu Mori, Yusuke Okamoto, Anfeng Mu, Yoshimi Ide, Akiyo Yoshimura, Noriko Senda, Yukiko Inagaki ‐Kawata, Masahiro Kawashima, Hiroyuki Kitao, Eriko Tokunaga, Yasuo Miyoshi, Shozo Ohsumi, Koichiro Tsugawa, Tomohiko Ohta, Toyomasa Katagi Tags: RESEARCH ARTICLE Source Type: research

Acquired and hereditary bone marrow failure: A mitochondrial perspective
The disorders known as bone marrow failure syndromes (BMFS) are life-threatening disorders characterized by absence of one or more hematopoietic lineages in the peripheral blood. Myelodysplastic syndromes (MDS) are now considered BMF disorders with associated cellular dysplasia. BMFs and MDS are caused by decreased fitness of hematopoietic stem cells (HSC) and poor hematopoiesis. BMF and MDS can occur de novo or secondary to hematopoietic stress, including following bone marrow transplantation or myeloablative therapy. De novo BMF and MDS are usually associated with specific genetic mutations. Genes that are commonly mutat...
Source: Frontiers in Oncology - November 2, 2022 Category: Cancer & Oncology Source Type: research