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.

Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations
CONCLUSION: Our findings add to the DBA pathogenic variant database and demonstrate the clinical presentations of the DBA patients with RPS10/RPS26 mutations. It shows that next-generation sequencing is a powerful tool for the diagnosis of genetic diseases such as DBA.PMID:37376976 | DOI:10.1111/ijlh.14126 (Source: International Journal of Laboratory Hematology)
Source: International Journal of Laboratory Hematology - June 28, 2023 Category: Hematology Authors: Jing Li Yongfeng Su Long Chen Yani Lin Kun Ru Source Type: research

Do cord blood CD34 cells stay the same or change after expansion: A comprehensive analysis of gene expression results before and after seven days of cell culture.
Hematopoietic stem cell transplantation is used to treat hematopoietic malignancies and bone marrow failure syndromes. Due to the difficulties of using these cells isolated from the bone marrow, an additional source for receiving essential hematopoietic cells is umbilical cord blood. But the main problem with using the umbilical cord is its insufficient blood volume. The ex-vivo reproductive system of hematopoietic stem cells can overcome this problem that has the ability for Transplantation and hematopoiesis in the long term. (Source: Transfusion and Apheresis Science)
Source: Transfusion and Apheresis Science - June 7, 2023 Category: Hematology Authors: Mohammad Hashemi Bahramani, Atoosa Gharib, Masoud Soeimani, Mahnaz Rabiei Source Type: research

Targeting of Calbindin 1 rescues erythropoiesis in a human model of Diamond Blackfan anemia
Blood Cells Mol Dis. 2023 May 26;102:102759. doi: 10.1016/j.bcmd.2023.102759. Online ahead of print.ABSTRACTDiamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by congenital anomalies, cancer predisposition and a severe hypo-proliferative anemia. It was the first disease linked to ribosomal dysfunction and >70 % of patients have been identified to have a haploinsufficiency of a ribosomal protein (RP) gene, with RPS19 being the most common mutation. There is significant variability within the disease in terms of phenotype as well as response to therapy suggesting that other genes cont...
Source: Blood Cells, Molecules and Diseases - June 2, 2023 Category: Hematology Authors: Nan Wang Corinne LaVasseur Rao Riaz Julien Papoin Lionel Blanc Anupama Narla Source Type: research

Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants
Haematologica. 2023 May 25. doi: 10.3324/haematol.2023.282949. Online ahead of print.ABSTRACTShwachman-Diamond syndrome is a rare inherited bone marrow failure syndrome characterized by neutropenia, exocrine pancreatic insufficiency, and skeletal abnormalities. In 10-30%, transformation to a myeloid neoplasm occurs. Approximately 90% of patients have biallelic pathogenic variants in the SBDS gene located on human chromosome 7q11. In the past several years, pathogenic variants in three other genes have been identified to cause similar phenotypes. These are DNAJC21, EFL1, and SRP54. Clinical manifestations involve multiple o...
Source: Haematologica - May 25, 2023 Category: Hematology Authors: Nozomu Kawashima Usua Oyarbide Marco Cipolli Valentino Bezzerri Seth J Corey Source Type: research

Telomere biology: from disorders to hematological diseases
Variations in the length of telomeres and pathogenic variants involved in telomere length maintenance have been correlated with several human diseases. Recent breakthroughs in telomere biology knowledge have contributed to the identification of illnesses named “telomeropathies” and revealed an association between telomere length and disease outcome. This review emphasizes the biology and physiology aspects of telomeres and describes prototype diseases in which telomeres are implicated in their pathophysiology. We also provide information on the role of telomeres in hematological diseases ranging from bone marrow failur...
Source: Frontiers in Oncology - May 19, 2023 Category: Cancer & Oncology Source Type: research

The role of androgen therapy in acquired aplastic anemia and other bone marrow failure syndromes
Bone marrow failure syndromes are a heterogeneous group of diseases. With the major advancements in diagnostic tools and sequencing techniques, these diseases may be better classified and therapies may be further tailored. Androgens, a historic group of drugs, were found to stimulate hematopoiesis by enhancing the responsiveness of progenitors. These agents have been used for decades to treat different forms of bone marrow failure. With the availability of more effective pathways to treat BMF, androgens are less used currently. Nevertheless, this group of drugs may serve BMF patients where standard therapy is contraindicat...
Source: Frontiers in Oncology - May 8, 2023 Category: Cancer & Oncology Source Type: research

Clinical implications of myeloid malignancy ‑related somatic mutations in aplastic anemia
AbstractAplastic anemia (AA) is a potentially fatal bone marrow failure syndrome characterized by a paucity of hematopoietic stem cells and progenitor cells with varying degrees of cytopenia and fatty infiltration of the bone marrow space. Recent advances in genomics have uncovered a link between somatic mutations and myeloid cancer in AA patients. At present, the impact of these mutations on AA patients remains uncertain. We retrospectively investigated 279 AA patients and 174 patients with myelodysplastic syndromes (MDS) and performed targeted sequencing of 22 genes on their bone marrow cells using next-generation sequen...
Source: Clinical and Experimental Medicine - April 22, 2023 Category: Research Source Type: research

Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle
Inherited bone marrow failure (BMF) syndromes are genetically diverse — more than 100 genes have been associated with those syndromes and the list is rapidly expanding. Risk assessment and genetic counseling of patients with recently discovered BMF syndromes is inherently difficult as disease mechanisms, penetrance, genotype-phenotype associations, phenotypic heterogeneity, risk of hematologic malignancies and clonal markers of disease progression are unknown or unclear. This review aims to shed light on recently described BMF syndromes with sparse concise data and with an emphasis on those associated with germline varia...
Source: Frontiers in Oncology - April 6, 2023 Category: Cancer & Oncology Source Type: research

A Pilot Trial of Patient-Reported Outcomes for Acute Graft-Versus-Host-Disease
Allogeneic hematopoietic cell transplantation (alloHCT) is an intensive and potentially curative therapy for patients with high-risk hematologic malignancies, bone marrow failure syndromes, and other non-malignant conditions. A common complication of alloHCT is graft-versus-host disease (GVHD), which can be a significant contributor to morbidity and mortality.1,2 Classic acute GVHD predominantly affects the skin, liver, and gastrointestinal tract. Traditional acute GVHD grading is based upon physician report, primarily consisting of measurements of percent body area of rash, presence of nausea and anorexia, and volume of d...
Source: Biology of Blood and Marrow Transplantation - March 30, 2023 Category: Hematology Authors: Sagar S. Patel, Sanghee Hong, Lisa Rybicki, Stephanie Farlow, Jane Dabney, Matt Kalaycio, Ronald Sobecks, Navneet S. Majhail, Betty K. Hamilton Source Type: research