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Researchers reveal developmental mechanisms behind rare bone marrow disorder

(Charit é - Universit ä tsmedizin Berlin) Myelodysplastic syndrome is an umbrella term used to describe disorders characterized by the bone marrow's inability to produce normal blood cells. Researchers from Charit é - Universit ä tsmedizin Berlin have found that a mutation in a specific tumor suppressor gene is one possible reason why children with a very rare genetic disorder develop myelodysplastic syndrome. Results from this research have been published in the current edition of the Journal of Clinical Investigation.
Source: EurekAlert! - Medicine and Health - Category: Global & Universal Source Type: news

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Abstract ObjectivesAlthough commonly associated with high‐grade myelodysplastic syndrome (MDS) and MDS with a complex karyotype, TP53 mutations also occur in low‐grade MDS and MDS with a non‐complex karyotype. In latter cases, their clinicopathological features and the characteristics of TP53 mutations remain poorly characterized. Methods176 MDS cases with TP53 mutations were stratified and characterized based on their karyotype and histologic subtype. ResultsAmong 176 cases, 17% had a non‐complex karyotype and 24% were low‐grade MDS. TP53 mutations often occurred in DNA binding domains and the majority of cases ...
Source: European Journal of Haematology - Category: Hematology Authors: Tags: Original Article Source Type: research
i &M A Sekeres
Source: Leukemia - Category: Hematology Authors: Source Type: research
GATA-2 is a transcription factor expressed in haematopoietic stem cell cells involved in differentiation and in lymphatic development. Mutations in this molecule explain four different previously known syndromes: monocytopenia and mycobacterial infection syndrome (MonoMAC); dendritic cell, monocyte, B cell and NK cell lymphoid deficiency syndrome; familiar myelodysplastic syndrome/acute myeloid leukaemia syndrome and Emberger syndrome (primary lymphedema with myelodysplastic syndrome) [1,2].
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - Category: OBGYN Authors: Tags: Correspondence Source Type: research
Source: Leukemia Research - Category: Hematology Authors: Tags: Research paper Source Type: research
MDS, or myelodysplastic syndrome, refers to a group of blood cancers. In this article, learn about the symptoms and complications of this disease.
Source: Health News from Medical News Today - Category: Consumer Health News Tags: Lymphoma / Leukemia / Myeloma Source Type: news
CONCLUSION: This case describes the first reported concurrent DIIHA and DIIT due to TMP-SMX-induced antibodies in an HSCT patient. DIIHA and DIIT can present a diagnostic challenge in the setting of intermittent medication dosing. PMID: 28905389 [PubMed - as supplied by publisher]
Source: Transfusion - Category: Hematology Authors: Tags: Transfusion Source Type: research
AbstractPurpose of ReviewThis review discusses the need for computational modeling in myelodysplastic syndromes (MDS) and early test results.Recent FindingsAs our evolving understanding of MDS reveals a molecularly complicated disease, the need for sophisticated computer analytics is required to keep track of the number and complex interplay among the molecular abnormalities. Computational modeling and digital drug simulations using whole exome sequencing data input have produced early results showing high accuracy in predicting treatment response to standard of care drugs. Furthermore, the computational MDS models serve a...
Source: Current Hematologic Malignancy Reports - Category: Hematology Source Type: research
Abstract Treatment intensification to maximize disease control and reduced-intensity approaches to minimize the risk of late sequelae have been evaluated in newly diagnosed Hodgkin lymphoma. The influence of these interventions on the risk of secondary malignant neoplasms, progression-free survival and overall survival is reported in the present meta-analysis based on individual patient data from 9498 patients treated within 16 randomized controlled trials for newly diagnosed Hodgkin lymphoma between 1984 and 2007. Secondary malignant neoplasms were meta-analyzed using Peto's method as time-to-event outcomes. For ...
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research
Abstract The current therapy for high-risk myelodysplastic syndrome (MDS) involves repeated cycles of the DNA demethylating agent 5-azacitidine (5-Aza), but combination treatments have been proposed to improve patient outcomes. We performed a phase Ib study to investigate the safety and tolerability of 5-Aza (75 mg/m(2)) combined with the histone deacetylase inhibitor panobinostat (PAN) in adult Japanese patients with MDS or chronic myelomonocytic leukemia (CMML). Eleven patients were enrolled; five received 20 mg PAN + 5-Aza and six received 30 mg PAN + 5-Aza. All patients in th...
Source: International Journal of Hematology - Category: Hematology Authors: Tags: Int J Hematol Source Type: research
Allogeneic stem cell transplant (ASCT) with HLA matched donors is increasingly used for older patients with AML/MDS. It remains unclear if haploidentical transplantation (haploSCT) is a suitable option for older patients with this disease. We analyzed 43 patients with AML/MDS (median age 61 years) who underwent a haploSCT at our institution. All the patients received a fludarabine-melphalan-based reduced-intensity conditioning regimen and post-transplant cyclophosphamide-based GVHD prophylaxis. Except one patient who had early death, the remaining 42 patients (98%) engrafted donor cells.
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research
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