ABSTRACT
Objective: In order to clarify the role of microRNAs [miRNA] in megakaryocyte differentiation, we ran a microRNA microarray experiment to measure the expression level of 961 human miRNA in megakaryocytes differentiated from human umbilical cord blood CD133+ cells
Materials and Methods: In this experimental study, human CD133+ hematopoietic stem cells were collected from three human umbilical cord blood [UCB] samples, and then differentiated to the megakaryocytic lineage and characterized by flow cytometry, CFU-assay and ploidy analysis. Subsequently, microarray analysis was undertaken followed by quantitative polymerase chain reaction [qPCR] to validate differentially expressed miRNA identified in the microarray analysis
Results: A total of 10 and 14 miRNAs were upregulated [e.g. miR-1246 and miR-148-a] and down-regulated [e.g. miR- 551b and miR-10a] respectively during megakaryocyte differentiation, all of which were confirmed by qPCR. Analysis of targets of these miRNA showed that the majority of targets are transcription factors involved in megakaryopoiesis
Conclusion: We conclude that miRNA play an important role in megakaryocyte differentiation and may be used as targets to change the rate of differentiation and further our understanding of the biology of megakaryocyte commitment
ABSTRACT
Background: Osteopetrosis is a group of genetically heterogonous diseases and the main feature of that is increased bone density due to osteoclast's abnormality. It has three clinical forms based on inheritance pattern, severity and age of onset: the dominant benign form [ADO], the intermediate form [IRO] and the recessive severe form [ARO]. One of the recently discovered genes for ARO form is SNX10 that accounts for 4% of affected persons by this type
Methods: In this paper, a 15 years old girl affected by osteopetrosis has been analyzed for detecting causal mutation in known osteopetrosis genes. To get it done, amplified exons of the genes were sequenced and then were analyzed
Results: Direct sequencing of SNX10 gene showed a homozygous c.43delG variant in the patient. Both healthy parents were heterozygous for this variant. In silico analysis revealed that this novel variant can be considered as the cause of disease in the patient
Conclusion: In this paper, a girl affected by osteopetrosis with a novel deletion in SNX10 gene was reported
ABSTRACT
The hematopoietic cell transplant [HCT] activity has grown significantly over the past two decades in both developing and developed countries. Many challenges arise in establishing new HCT programs in developing countries, due to scarcity of resources and manpower in expertise in HCT. While cost issues can potentially hinder establishment of new HCT programs in certain regions, the focus on quality and value should be included in the general vision of leadership before establishing an HCT program. The main challenge in most developing countries is the lack of trained/qualified personnel, enormous start-up costs for a tertiary care center, and quality maintenance. Herein, we discuss the main challenges from a cost and quality perspective which occur at initiation of a new HCT program. We give real world examples of two developing countries that have recently started new HCT programs despite significant financial constraints. We also portray recommendations from the Worldwide Network of Blood and Marrow Transplantation for levels of requirements for a new HCT program. We hope that this review will serve as a general guide for new transplant program leadership with respect to the concerns of balancing high quality with concurrently lowering costs
ABSTRACT
Background: There is an international consensus that evaluation of MYCNamplification should be done in all cases of newly diagnosed neuroblastoma. MYCN is the most important prognostic factor for neuroblastoma and determines treatment strategy
Materials and methods: In this study we evaluated paraffin embedded tissue block and bone marrow aspiration of 75 neuroblastoma patients with mean age of 4.1 years, including 32 female and 43 male, by conventional and also real time quantitative PCR
Results: Forty eight and 43 percent were MYCN amplification positive by Real time and conventional PCR, respectively. 28% of patients less than one year old and 48% of patients older than one year showed MYCN amplification.50 percent of cases with pathological diagnosis of small round cell tumor had MYCN amplification
Conclusion: PCR is a fast, reliable and cost effective method for the evaluation of MYCN amplification and can be performed using DNA extracted from small tissue samples and paraffin embedded blocks. As expected regarding detection power and convenience, Real time PCR was superior to conventional PCR