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.

Inflammation fuels bone marrow exhaustion caused by Samd9l mutation
Sterile α motif domain–containing 9 (SAMD9) and SAMD9-like (SAMD9L) syndromes are inherited bone marrow failure syndromes known for their frequent development of myelodysplastic syndrome with monosomy 7. In this issue of the JCI, Abdelhamed, Thomas, et al. report a mouse model with a hematopoietic cell–specific heterozygous Samd9l mutation knockin. This mouse model resembles human disease in many ways, including bone marrow failure and the nonrandom loss of the mutant allele. Samd9l-mutant hematopoietic stem progenitor cells showed reduced fitness at baseline, which was further exacerbated by inflammation. TGF-β hype...
Source: Journal of Clinical Investigation - November 1, 2022 Category: Biomedical Science Authors: Moonjung Jung Source Type: research

Fludarabine-based Reduced Intensity Conditioning for Allogeneic Hematopoietic Stem Cell Transplantation in a Pediatric Patient With Bone Marrow Failure Syndrome Type 3
Bone marrow failure syndrome (BMFS) type 3 is a rare genetic heterogeneous disorder, considered to be one of Inherited BMFSs related to ribosomopathies. It caused by a novel Homozygous variant in DNAJC21 gene, which affects cytoplasmic maturation of 60S ribosomal, leading to increase cell death, and inhibits cellular proliferation causing shwachman-diamond Syndrome-like syndrome. Only 15 cases of BMFS type 3 have been published in the literature. Therefore, the full phenotypic spectrum and the experience of hematopoietic stem cell transplantation (HSCT) are limited. Herein, we report an uncomplicated HSCT from human leukoc...
Source: Journal of Pediatric Hematology Oncology - October 31, 2022 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

Idiopathic Aplastic anemia: Indian Perspective
AbstractAplastic anemia (AA) is a rare immunologically mediated bone marrow failure syndrome, characterized by progressive loss of hematopoietic stem cells resulting in peripheral pancytopenia. Elaborative investigation including molecular tests is required to exclude inherited bone marrow failure syndrome (IMBFS) as the treatment and prognosis vary dramatically between them. Haematopoietic stem cell transplant with a fully matched sibling donor (MSD-HSCT) is still the only curative treatment. Management of AA is a real-time challenge in India, because of the delay in the diagnosis, lack of proper supportive care, limited ...
Source: Indian Journal of Hematology and Blood Transfusion - October 31, 2022 Category: Hematology Source Type: research

Assessment of Hepatic Profile in Acquired Aplastic Anemia: An Experience From Pakistan
CONCLUSION: Overall, this study revealed that <10% of patients of AA had a positive screening for hepatitis A, B, and C and low platelet count, and PT was statistically significant when compared between the patients with and without hepatitis. Hepatitis being prevalent in our part of the world might have an important causal association with AA. Patients with AA should be screened for liver functions and viral hepatitis at the time of diagnosis. In addition to hepatitis A, B, and C and HIV, other causes of hepatitis should also be screened such as parvovirus B19, human herpes virus 16, and adenovirus which are not inclu...
Source: Herpes - October 17, 2022 Category: Infectious Diseases Authors: Warkha Thakur Nida Anwar Shafaq Samad Naveena Fatima Rehana Ahmed Faryal Tariq Javeria Ashfaq Sumaira Sharif Munira Borhany Source Type: research

Pediatric Germline Predisposition to Myeloid Neoplasms
AbstractPurpose of ReviewAdvances in the understanding of germline predisposition to pediatric cancers, particularly myeloid neoplasms, have increased rapidly over the last 20 years. Here, we highlight the most up-to-date knowledge regarding known pathogenic germline variants that contribute to the development of myeloid neoplasms in children.Recent FindingsThis discussion enumerates the most notable myeloid neoplasm-causing germline mutations. These mutations may be organized based on their molecular underpinnings —transcriptional control, splicing and signal transduction control, and a group of heterogeneous bone mar...
Source: Current Hematologic Malignancy Reports - September 19, 2022 Category: Hematology Source Type: research

A novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infant
CONCLUSIONS: In this report, we present a patient with congenital bone marrow failure successfully treated with haploidentic BMT and describe a novel, de novo pathogenic variant in MECOM gene.PMID:36082647 | DOI:10.24953/turkjped.2021.4855 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - September 9, 2022 Category: Pediatrics Authors: Burak Delilo ğlu Özlem Tüfekçi Funda T üzün Ay ça Aykut Emine İpek Ceylan Asude Durmaz Şebnem Yılmaz Nuray Duman Hasan Özkan Hale Ören Source Type: research