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 a robust DNA methylation signature for Fanconi anemia
Fanconi anemia (FA) is the most common bone marrow failure syndrome. Molecular diagnosis is challenging due to its genetic heterogeneity and wide mutation spectrum. We identify an FA-specific DNA methylation signature that aids in classification of variants and establishing/refuting a clinical diagnosis in molecularly uninformative and revertant cases. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - October 20, 2023 Category: Genetics & Stem Cells Authors: Daria Pagliara, Andrea Ciolfi, Lucia Pedace, Sadegheh Haghshenas, Marco Ferilli, Michael A. Levy, Evelina Miele, Claudia Nardini, Camilla Cappelletti, Raissa Relator, Angela Pitisci, Rita De Vito, Simone Pizzi, Jennifer Kerkhof, Haley McConkey, Francesca Tags: Article Source Type: research

Family Caregiver Experiences in the Inpatient and Outpatient Reduced-Intensity Allogeneic Hematopoietic Cell Transplantation Settings: A Qualitative Study
Many patients with high-risk hematologic malignancies and other illnesses that result in bone marrow failure syndromes undergo allogeneic hematopoietic cell transplantation (allo-HCT).1 –3 A potentially curative therapy, HCT often involves a protracted treatment course traditionally delivered in the inpatient setting where patients experience an intense 3–4-week hospitalization with substantial toxicities resulting from the early transplant process.4–6 Several factors such as increased options for round-the-clock staff availability provides opportunity to relieve caregiver burden, ongoing close post-HCT follow-up car...
Source: Biology of Blood and Marrow Transplantation - September 29, 2023 Category: Hematology Authors: Tamryn F. Gray, Khuyen M. Do, Hermioni L. Amonoo, Lauren Sullivan, Amar Kelkar, William Pirl, Marilyn Hammer, James A. Tulsky, Areej El-Jawahri, Corey Cutler, Ann H. Partridge Source Type: research

Family Caregiver Experiences in the Inpatient and Outpatient Reduced-Intensity Conditioning Allogeneic Hematopoietic Cell Transplantation Settings: A Qualitative Study
Many patients with high-risk hematologic malignancies and other illnesses that result in bone marrow failure syndromes undergo allogeneic hematopoietic cell transplantation (allo-HCT) [1 –3]. A potentially curative therapy, allo-HCT often involves a protracted treatment course traditionally delivered in the inpatient setting, where patients experience an intense 3- to 4-week hospitalization, with substantial toxicities resulting from the early transplantation process [4–6]. Seve ral factors, including increased options for round-the-clock staff availability, opportunities to relieve caregiver burden, ongoing close post...
Source: Biology of Blood and Marrow Transplantation - September 29, 2023 Category: Hematology Authors: Tamryn F. Gray, Khuyen M. Do, Hermioni L. Amonoo, Lauren Sullivan, Amar Kelkar, William Pirl, Marilyn Hammer, James A. Tulsky, Areej El-Jawahri, Corey Cutler, Ann H. Partridge Tags: Supportive Care Source Type: research

Spatial proteomics identifies a spectrum of immune dysregulation in acquired bone marrow failure syndromes
In this study, we used spatial proteomics to compare the immunobiology of the BM microenvironment and identify common mechanisms of immune dysregulation under these conditions. Archival BM trephines from patients exhibited downregulation of the immunoregulatory protein VISTA and the M2 macrophage marker and suppressor of T-cell activation ARG1 with increased expression of the immune checkpoint B7-H3 compared to normal controls. Increased CD163 and CD14 expression suggested monocyte/macrophage skewing, which, combined with dysregulation of STING and VISTA, is indicative of an environment of reduced immunoregulation resultin...
Source: Frontiers in Immunology - September 25, 2023 Category: Allergy & Immunology Source Type: research

The reconstitution of T-cells after Allogeneic Hematopoietic Stem Cell Transplant in a Pediatric Patient with Congenital Amegakaryocytic Thrombocytopenia (CAMT)
CONCLUSION: Successful treatment of acute GvHD prevented advancing the condition to chronic GvHD, and this was accompanied by delayed T-cell reconstitution through an increase in Treg:Tcons ratio.PMID:37526450 | DOI:10.2174/1871530323666230801100113 (Source: Endocrine, Metabolic and Immune Disorders Drug Targets)
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - August 1, 2023 Category: Drugs & Pharmacology Authors: Shideh Namazi Bayegi Amir Ali Hamidieh Maryam Behfar Amene Saghazadeh Mahmood Bozorgmehr Nader Tajik Ali Akbar Delbandi Samaneh Delavari Mehdi Shekarabi Nima Rezaei Source Type: research

The reconstitution of T-cells after Allogeneic Hematopoietic Stem Cell Transplant in a Pediatric Patient with Congenital Amegakaryocytic Thrombocytopenia (CAMT)
CONCLUSION: Successful treatment of acute GvHD prevented advancing the condition to chronic GvHD, and this was accompanied by delayed T-cell reconstitution through an increase in Treg:Tcons ratio.PMID:37526450 | DOI:10.2174/1871530323666230801100113 (Source: Endocrine, Metabolic and Immune Disorders Drug Targets)
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - August 1, 2023 Category: Endocrinology Authors: Shideh Namazi Bayegi Amir Ali Hamidieh Maryam Behfar Amene Saghazadeh Mahmood Bozorgmehr Nader Tajik Ali Akbar Delbandi Samaneh Delavari Mehdi Shekarabi Nima Rezaei Source Type: research

A well curated cost-effective next generation sequencing panel identifies a diverse landscape of pathogenic and novel germline variants in bone marrow failure cohort in a resource constraint setting
Current study is a 4 year experience in diagnosis and screening of inherited and immune bone marrow failure cases using a targeted sequencing panel. A total of 171 cases underwent targeted NGS and were categorized as suspected inherited bone marrow failure syndrome (IBMFS) group (106; 62%) and immune/idiopathic aplastic anemia (IAA) group (65; 38%) based on clinical and laboratory criteria. 110 (64%) were pediatric (0-12 years) and 61 (36%) adolescent and adults (13-47 years). In suspected IBMFS group, 47 (44%) and in IAA group, 8 (12%) revealed a likely germline pathogenic variation. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - July 17, 2023 Category: Pathology Authors: Swetha Pallavelangini, Gnanamani Senguttuvan, Prateek Bhatia, Prashant Chhabra, Minu Singh, Alka Khadwal, Arihant Jain, Pankaj Sharma, Rozy Thakur, Sreejesh Sreedharanunni, Deepak Bansal, Richa Jain, Srinivasan Peyam, Sonali Mohapatra, Ankur Jindal, Deept Tags: Regular Article Source Type: research

A Well-Curated Cost-Effective Next-Generation Sequencing Panel Identifies a Diverse Landscape of Pathogenic and Novel Germline Variants in a Bone Marrow Failure Cohort in a Resource-Constraint Setting
The current study is a 4-year experience in diagnosis and screening of inherited and immune bone marrow failure cases using a targeted sequencing panel. A total of 171 cases underwent targeted next-generation sequencing and were categorized as suspected inherited bone marrow failure syndrome (IBMFS) group (106; 62%) and immune/idiopathic aplastic anemia (IAA) group (65; 38%) based on clinical and laboratory criteria. A total of 110 (64%) were pediatric (aged 0 to 12 years) patients and 61 (36%) were adolescent and adult (aged 13 to 47 years) patients. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - July 17, 2023 Category: Pathology Authors: Swetha Pallavelangini, Gnanamani Senguttuvan, Prateek Bhatia, Prashant Chhabra, Minu Singh, Alka Khadwal, Arihant Jain, Pankaj Sharma, Rozy Thakur, Sreejesh Sreedharanunni, Deepak Bansal, Richa Jain, Srinivasan Peyam, Sonali Mohapatra, Ankur Jindal, Deept Tags: Regular article Source Type: research

Optimizing diagnostic methods and stem cell transplantation outcomes in pediatric bone marrow failure: a 50-year single center experience
Conclusion: Unbiased protocolized in-depth diagnostic strategies are crucial to increase the frequency of identifiable causes within the heterogeneous group of pediatric BMF. A comprehensive approach to identify the cause of BMF can prevent treatment delay and be useful to tailor treatment and follow-up protocols.What is Known:• Irreversible BMF in pediatric patients can be caused by a wide spectrum of underlying diseases including (pre)malignant disease, IBMFS and AA. Identifying the exact underlying cause of BMF is crucial for tailored therapy, however often challenging and time-consuming.• Frontline allogeneic HSCT ...
Source: European Journal of Pediatrics - July 13, 2023 Category: Pediatrics Source Type: research

MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development
J Clin Immunol. 2023 Jul 5. doi: 10.1007/s10875-023-01545-0. Online ahead of print.ABSTRACTMECOM deficiency is a recently identified inborn error of immunity and inherited bone marrow failure syndrome caused by haploinsufficiency of the hematopoietic transcription factor MECOM. It is unique among inherited bone marrow failure syndromes, many of which present during later childhood or adolescence, because of the early age of onset and severity of the pancytopenia, emphasizing the importance and gene dose dependency of MECOM during hematopoiesis. B-cell lymphopenia and hypogammaglobulinemia have been described in a subset of...
Source: Cancer Control - July 5, 2023 Category: Cancer & Oncology Authors: Richard A Voit Vijay G Sankaran Source Type: research

MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development
Abstract MECOM deficiency is a recently identified inborn error of immunity and inherited bone marrow failure syndrome caused by haploinsufficiency of the hematopoietic transcription factor MECOM. It is unique among inherited bone marrow failure syndromes, many of which present during later childhood or adolescence, because of the early age of onset and severity of the pancytopenia, emphasizing the importance and gene dose dependency ofMECOM during hematopoiesis. B-cell lymphopenia and hypogammaglobulinemia have been described in a subset of patients with MECOM deficiency. While the mechanisms underlying the B-cell defi...
Source: Journal of Clinical Immunology - July 5, 2023 Category: Allergy & Immunology Source Type: research

Harvest Quality, Nucleated Cell Dose and Clinical Outcomes in Bone Marrow Transplantation: A Retrospective Study
Allogeneic hematopoietic stem cell transplantation (HSCT) continues to be an important and potentially curative treatment for many malignant and non-malignant diseases including hematologic malignancies, bone marrow failure syndromes, congenital and acquired diseases of the immune system, some solid tumors, and inherited disorders of metabolism [1,2]. While grafts derived from peripheral blood stem cells (PBSCs) are now the major source for HSCT for adult patients, bone marrow transplantation (BMT) with bone marrow grafts as the source continues to play an important role, especially for pediatric patients [3]. (Source: Bio...
Source: Biology of Blood and Marrow Transplantation - July 5, 2023 Category: Hematology Authors: Theodros Mamo, Darin Sumstad, Todd E. DeFor, Qing Cao, Margaret L. MacMillan, Claudio Brunstein, Mark Juckett, David H. McKenna Source Type: research

Clinical uses of recombinant haematopoietic growth factors in paediatrics
The formation of blood cells, haematopoiesis, is regulated by a family of extracellular glycosylated proteins called haematopoietic growth factors. Over the past four decades their identification, purification and cloning has led to the development of recombinant haematopoietic growth factors for medicinal use. These growth factors play a valuable role in treatment of a variety of childhood conditions, ranging from anaemia of chronic kidney disease through to rare congenital bone marrow failure syndromes. (Source: Paediatrics and Child Health)
Source: Paediatrics and Child Health - June 29, 2023 Category: Pediatrics Authors: Christopher Gerard Mullen, Christina Halsey Tags: Symposium: haematology Source Type: research