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Inherited bone marrow failure syndromes: considerations pre- and posttransplant

Patients with inherited bone marrow failure syndromes are usually identified when they develop hematologic complications such as severe bone marrow failure, myelodysplastic syndrome, or acute myeloid leukemia. They often have specific birth defects or other physical abnormalities that suggest a syndrome, and sequencing of specific genes or next-generation sequencing can determine or confirm the particular syndrome. The 4 most frequent syndromes are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome. This review discusses the major complications that develop as the patients with these syndromes age, as well as additional late effects following hematopoietic stem cell transplantation. The most common complications are iron overload in transfused patients and syndrome-specific malignancies in untransplanted patients, which may occur earlier and with higher risks in those who have received transplants.
Source: Blood - Category: Hematology Authors: Tags: Hematopoiesis and Stem Cells, Transplantation, Review Articles, Clinical Trials and Observations Source Type: research

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Source: American Journal of Transplantation - Category: Transplant Surgery Authors: Tags: Original Article Source Type: research
Authors: Herrmann KH, Meier-Kriesche U, Neubauer AS Abstract Introduction: It is discussed whether real world data can be used in health technology assessment. Following it is of interest whether routinely collected data for quality assurance (QA) in the hospital sector is feasible to address epidemiologic questions in kidney transplantation in the AMNOG process in Germany. Objectives: To investigate the proportion of kidney transplants classified as from so-called standard criteria donors (SCD) and from expanded criteria donors (ECD) in Germany and to study the age distribution. Methods: After granted use by the F...
Source: GMS German Medical Science - Category: General Medicine Tags: Ger Med Sci Source Type: research
CONCLUSIONS: the "Gestiona Hierro EII" survey on the management of anemia in IBD demonstrated a high quality of care, even though some aspects need to be improved. These included the prescription of intravenous iron for patients with disease activity, the use of high-dose intravenous iron and the implementation of algorithms into clinical practice. PMID: 29465251 [PubMed - as supplied by publisher]
Source: Revista Espanola de Enfermedades Digestivas - Category: Gastroenterology Tags: Rev Esp Enferm Dig Source Type: research
Conclusions: This study reports the subtypes of T-ALL in Oman for the first time. It is hoped that this will lead to a better understanding of the disease outcomes. PMID: 29467998 [PubMed]
Source: Oman Medical Journal - Category: Middle East Health Tags: Oman Med J Source Type: research
Conclusions: Although our pediatric kidney transplant program is a young program it has had successful patient outcomes comparable to international programs. Our study provides evidence that in addition to legal and ethical issues with commercial transplant, it also carries significantly higher morbidity and reduced graft and patient survival. PMID: 29467993 [PubMed]
Source: Oman Medical Journal - Category: Middle East Health Tags: Oman Med J Source Type: research
Abstract Background: Risk analysis of cold ischemia time (CIT) in liver transplantation has largely focused on patient and graft survival. Post‐transplant length of stay is a sensitive marker of morbidity and cost. We hypothesize that CIT is a risk factor for post‐transplant prolonged length of stay (PLOS) and aim to conduct an hour‐by‐hour analysis of CIT and PLOS. Methods: We retrospectively reviewed all adult, first‐time liver transplants between March 2002 and September 2016 in the United Network for Organ Sharing database. 67,426 recipients were categorized by hourly CIT increments. Multivariable logistic re...
Source: Liver Transplantation - Category: Transplant Surgery Authors: Tags: Original Article Source Type: research
Authors: Alter BP Abstract Patients with inherited bone marrow failure syndromes are usually identified when they develop hematologic complications such as severe bone marrow failure, myelodysplastic syndrome, or acute myeloid leukemia. They often have specific birth defects or other physical abnormalities that suggest a syndrome, and sequencing of specific genes or next-generation sequencing can determine or confirm the particular syndrome. The 4 most frequent syndromes are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome. This review discusses the major complications...
Source: Hematology ASH Education Program - Category: Hematology Tags: Hematology Am Soc Hematol Educ Program Source Type: research
Authors: West AH, Churpek JE Abstract Patients with inherited bone marrow failure syndromes (IBMFSs) classically present with specific patterns of cytopenias along with congenital anomalies and/or other physical features that are often recognizable early in life. However, increasing application of genomic sequencing and clinical awareness of subtle disease presentations have led to the recognition of IBMFS in pediatric and adult populations more frequently than previously realized, such as those with early onset myelodysplastic syndrome (MDS). Given the well-defined differences in clinical management needs and outc...
Source: Hematology ASH Education Program - Category: Hematology Tags: Hematology Am Soc Hematol Educ Program Source Type: research
Publication date: September–December 2014 Source:Best Practice & Research Clinical Haematology, Volume 27, Issues 3–4 Author(s): Blanche P. Alter Fanconi anemia (FA) is a rare autosomal recessive cancer-prone inherited bone marrow failure syndrome, due to mutations in 16 genes, whose protein products collaborate in a DNA repair pathway. The major complications are aplastic anemia, acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and specific solid tumors. A severe subset, due to mutations in FANCD1/BRCA2, has a cumulative incidence of cancer of 97% by age 7 years; the cancers are AML, brain ...
Source: Best Practice and Research Clinical Haematology - Category: Hematology Source Type: research
Abstract Inherited bone marrow failure (IBMF) syndromes are a heterogeneous group of rare hematological disorders characterized by the impairment of hematopoiesis, which harbor specific clinical presentations and pathogenic mechanisms. Some of these syndromes may progress through clonal evolution, myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Most prominent are failures of DNA repair such as Fanconi Anemia and much rarer failure of ribosomal apparatus, e.g., Diamond Blackfan Anemia or of telomere elongation such as dyskeratosis congenita. In these congenital disorders, hematopoietic stem cell tr...
Source: International Journal of Hematology - Category: Hematology Authors: Tags: Int J Hematol Source Type: research
More News: Acute Leukemia | Acute Myeloid Leukemia | Anemia | Bone Marrow Failure Syndrome (BMFS) | Cancer & Oncology | Clinical Trials | Faconi Anemia | Genetics | Hematology | Iron | Leukemia | Myelodysplastic Syndrome | Stem Cell Therapy | Stem Cells | Transplants