2,189 results match your criteria Blood Cells Mol. Dis.[Journal]


Scurvy of modern age: Rare presentation with pancytopenia.

Blood Cells Mol Dis 2019 Apr 8;77:76-77. Epub 2019 Apr 8.

Department of Internal Medicine, 123 Summer Street, Saint Vincent Hospital, Worcester, MA 01608, USA.

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http://dx.doi.org/10.1016/j.bcmd.2019.04.004DOI Listing

Pagophagia in men with iron-deficiency anemia.

Blood Cells Mol Dis 2019 Apr 7;77:72-75. Epub 2019 Apr 7.

Southern Iron Disorders Center, Birmingham, AL, USA; Department of Medicine, Brookwood Medical Center, Birmingham, AL, USA.

Few case series of pagophagia and iron deficiency include men. We performed a retrospective study of non-Hispanic white men with iron-deficiency anemia whose anemia and pagophagia, thrombocytosis, and thrombocytopenia (if present) resolved after iron replacement. Iron-deficiency anemia was defined as transferrin saturation (TS) <15%, serum ferritin (SF) <30 μg/L, and hemoglobin (Hb) <13. Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.04.002DOI Listing
April 2019
1 Read

Urinary iron excretion for evaluating iron chelation efficacy in children with thalassemia major.

Blood Cells Mol Dis 2019 Apr 1;77:67-71. Epub 2019 Apr 1.

Department of Child Health, Faculty of Medicine, Universitas Indonesia - Dr. Cipto Mangunkusumo Hospital, Jakarta, Indonesia.

Background: In patients with thalassemia major, examination routinely used for the evaluation of iron load in Indonesia is serum ferritin, but it is strongly influenced by other factors such as infections, inflammation and vitamin C levels. Evaluation of urinary iron excretion is an important and easy method to indicate iron chelation efficacy.

Objective: To determine the efficacy of iron chelation therapy by urinary iron examination and to evaluate its correlation with the time of transfusion, serum ferritin level, transferrin saturation and T2* MRI. Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.03.007DOI Listing

Evidence for three populations of the glucose transporter in the human erythrocyte membrane.

Blood Cells Mol Dis 2019 Mar 29;77:61-66. Epub 2019 Mar 29.

Department of Chemistry, Purdue University, West Lafayette, IN 47907, USA; Institute for Drug Discovery, Purdue University, West Lafayette, IN 47907, USA. Electronic address:

Glucose transporter 1 (GLUT1) is one of 13 members of the human equilibrative glucose transport protein family and the only glucose transporter thought to be expressed in human erythrocyte membranes. Although GLUT1 has been shown to be anchored to adducin at the junctional spectrin-actin complex of the membrane through interactions with multiple proteins, whether other populations of GLUT1 also exist in the human erythrocyte membrane has not been examined. Because GLUT1 plays such a critical role in erythrocyte biology and since it comprises 10% of the total membrane protein, we undertook to evaluate the subpopulations of erythrocyte GLUT1 using single particle tracking. Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.03.005DOI Listing

Differential gene expression changes and their implication on the disease progression in patients with Chronic Myeloid Leukemia.

Blood Cells Mol Dis 2019 Mar 24;77:51-60. Epub 2019 Mar 24.

Laboratory of Cytogenetics and Molecular Diagnostics, Division of Cancer Research, Regional Cancer Centre, Medical College Post, Trivandrum 695011, Kerala, India. Electronic address:

The molecular mechanisms responsible for disease progression of CML are not conclusive. The main functional changes associated with disease evolution in CML was high proliferation rate, decreased apoptosis, blockade of differentiation, and strong resistance to chemotherapeutic agents. The current study analyzed the relative expressional profiles of genes related with proliferation, apoptosis, differentiation, and resistance to chemotherapeutic agents such as c-MYC, BAD, BCL-2, C/EBPα/-β and ABCB1 respectively in different clinical stages of CML by SYBR Green I quantitative real-time (qRT) PCR. Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.03.004DOI Listing

Construction of prognostic risk prediction model based on high-throughput sequencing expression profile data in childhood acute myeloid leukemia.

Blood Cells Mol Dis 2019 Mar 28;77:43-50. Epub 2019 Mar 28.

Department of Plastic Surgery, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei Province, China. Electronic address:

This study aimed to identify critical prognostic molecular markers in Childhood acute myeloid leukemia (AML) and construct nomogram-based model for prognostic prediction. The RNA-sequencing profiles and corresponding clinical information were downloaded from TCGA database. Differential expressed genes (DEG) were screened using limma package, subsequently following by GO and KEGG pathway analysis. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10799796193012
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http://dx.doi.org/10.1016/j.bcmd.2019.03.008DOI Listing
March 2019
3 Reads
2.646 Impact Factor

Increased CD8CD27perforin T cells and decreased CD8CD70 T cells may be immune biomarkers for aplastic anemia severity.

Blood Cells Mol Dis 2019 Mar 30;77:34-42. Epub 2019 Mar 30.

Key Laboratory for Regenerative Medicine of Ministry of Education, Institute of Hematology, School of Medicine, Jinan University, Guangzhou, China; Institute of Hematology, School of Medicine, Jinan University, Guangzhou, China. Electronic address:

Objectives: Aplastic anemia (AA) is T cell immune-mediated autoimmune disease. Aberrant T cell activation involves an imbalance in T cell homeostasis in AA. However, whether the T cell activation molecule CD27 and its ligand CD70 participate in the immune pathogenesis of AA remains ill defined. Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.03.009DOI Listing
March 2019
2 Reads

Unique case of autoantibody mediated inactivation of ADAMTS13 in an Indian TTP patient.

Blood Cells Mol Dis 2019 Mar 23;77:29-33. Epub 2019 Mar 23.

Disease Biology Laboratory, Regional Centre for Biotechnology, National Capital Region Biotech Science Cluster, Faridabad, India. Electronic address:

A young Indian female visited hospital as a suspected case of thrombotic thrombocytopenic purpura (TTP) with relapsed thrombotic complications with low platelet counts, infarct in middle cerebral artery and thrombi in microvessels. We first confirmed the deficiency of ADAMTS13 metalloprotease in this patient showing improper cleavage of vWF multimers by her plasma unlike her parents and brother. Although patient had very less ADAMTS13 antigen in plasma, but it did not appear to be the cause of deficiency of the enzyme, because her father had similarly low antigen level and he never had prothrombotic complications. Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.03.003DOI Listing
March 2019
2 Reads

SMIM1 intron 2 gene variations leading to variability in Vel antigen expression among Brazilian blood donors.

Blood Cells Mol Dis 2019 Mar 25;77:23-28. Epub 2019 Mar 25.

Instituto de Medicina Tropical, Universidade de Sao Paulo, Sao Paulo, Brazil.

Background: There is a significant inter-individual heterogeneity of Vel antigen expression which can lead to inaccuracies on Vel phenotyping of blood donors and, potentially, to hemolytic post-transfusion reactions. Our aim was to evaluate the impact of genetic variants in the SMIM1 intron 2 on the expression of Vel antigen among Brazilian blood donors harboring the c.64_80del17 deletion in heterozygosity. Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.03.006DOI Listing
March 2019
2 Reads

Human ehrlichiosis at a tertiary-care academic medical center: Clinical associations and outcomes of transplant patients and patients with hemophagocytic lymphohistiocytosis.

Blood Cells Mol Dis 2019 Mar 19;77:17-22. Epub 2019 Mar 19.

Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA.

Background: Ehrlichiosis is an acute febrile tick-borne disease which can rarely be a trigger for secondary hemophagocytic lymphohistiocytosis (HLH).

Methods: We reviewed our experience with Ehrlichia infections at a tertiary-care academic medical center.

Results: Over 10 years, 157 cases of ehrlichiosis were identified. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10799796193010
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http://dx.doi.org/10.1016/j.bcmd.2019.03.002DOI Listing
March 2019
4 Reads

Natural history of benign ethnic neutropenia in individuals of African ancestry.

Blood Cells Mol Dis 2019 Mar 15;77:12-16. Epub 2019 Mar 15.

Molecular and Clinical Hematology Branch, NHLBI, NIH, United States of America. Electronic address:

Background: Benign ethnic neutropenia (BEN), defined by neutrophil count <1.5 k/μL in the absence of other causes, is an asymptomatic condition more commonly observed in individuals of African ancestry. However, the natural history of this condition has been less well described. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10799796193000
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http://dx.doi.org/10.1016/j.bcmd.2019.01.009DOI Listing
March 2019
3 Reads

Heterozygous FXII deficiency is not associated with an increased incidence of thrombotic events: Results of a long term study.

Blood Cells Mol Dis 2019 Mar 11;77:8-11. Epub 2019 Mar 11.

University of Padua Medical School, Department of Medicine, Padua, Italy.

Objective: To investigate the incidence of thrombotic events in patients heterozygous for FXII deficiency during a long observation period.

Patients And Methods: 103 heterozygotes for FXII deficiency, 49 female and 54 male were followed for 19.6 years (range 5-32 years). Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.03.001DOI Listing

Cardiac involvement by CMR in different genotypic groups of thalassemia major patients.

Blood Cells Mol Dis 2019 Mar 7;77:1-7. Epub 2019 Mar 7.

Fondazione G. Monasterio CNR-Regione Toscana, Pisa, Italy. Electronic address:

Beta thalassemia major (β-TM) displays a great deal of phenotypic heterogeneity, not fully investigated in terms of cause-effect. We aimed to detect if different genotypic groups could be related to different levels of cardiac impairment, evaluated by cardiovascular magnetic resonance (CMR). We considered 671 β-TM patients (age 30. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10799796183044
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http://dx.doi.org/10.1016/j.bcmd.2019.01.008DOI Listing
March 2019
5 Reads

A role for ATP Citrate Lyase in cell cycle regulation during myeloid differentiation.

Blood Cells Mol Dis 2019 05 1;76:82-90. Epub 2019 Mar 1.

Department of Microbiology & Immunology and the Centre for Human Immunology, Schulich School of Medicine & Dentistry, Western University, London, Ontario N6A 5C1, Canada; Division of Genetics and Development, Children's Health Research Institute, Lawson Research Institute, London, Ontario N6C 2R5, Canada. Electronic address:

Differentiation of myeloid progenitor cells into macrophages is accompanied by increased PU.1 concentration and increasing cell cycle length, culminating in cell cycle arrest. Induction of PU. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10799796193005
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http://dx.doi.org/10.1016/j.bcmd.2019.02.006DOI Listing
May 2019
4 Reads

Slit2/Robo4 signaling pathway modulates endothelial hyper-permeability in a two-event in vitro model of transfusion-related acute lung injury.

Blood Cells Mol Dis 2019 05 13;76:7-12. Epub 2018 Nov 13.

Department of Intensive Care Unit, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou 325000, China. Electronic address:

Transfusion-related acute lung injury (TRALI) remains the leading cause of transfusion-related mortality. Endothelium semipermeable barrier function plays a critical role in the pathophysiology of transfusion-related acute lung injury (TRALI). Recently, Roundabout protein 4 (Robo4), interaction with its ligand Slit 2, was appreciated as a modulator of endothelial permeability and integrity. Read More

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http://dx.doi.org/10.1016/j.bcmd.2018.11.003DOI Listing

Decitabine improves platelet recovery by down-regulating IL-8 level in MDS/AML patients with thrombocytopenia.

Blood Cells Mol Dis 2019 05 20;76:66-71. Epub 2019 Feb 20.

State Key Laboratory of Experimental Hematology, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 288 Nanjing Road, Tianjin 300020, China; Hematopoietic Stem Cell Transplant Center, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 288 Nanjing Road, Tianjin 300020, China. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2019.02.003DOI Listing

The p.H63D allele of the HFE gene protects against low iron stores in Sri Lanka.

Blood Cells Mol Dis 2019 05 20;76:72-77. Epub 2019 Feb 20.

MRC Molecular Hematology Unit, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.

In hereditary hemochromatosis, iron overload is associated with homozygosity for the p.C282Y mutation. A second mutation, p. Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.02.004DOI Listing
May 2019
8 Reads

Dasatinib reduces myelofibrosis by modulating pSTAT5 and NF-κB.

Blood Cells Mol Dis 2019 05 20;76:78-81. Epub 2019 Feb 20.

Department of Internal Medicine III, Hematology & Oncology, University Hospital of Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany.

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http://dx.doi.org/10.1016/j.bcmd.2019.02.005DOI Listing

Acute basophilic leukemia with U2AF1 mutation.

Blood Cells Mol Dis 2019 05 22;76:63-65. Epub 2019 Feb 22.

Department of Medical, Surgical and Experimental Sciences, University of Sassari, Viale San Pietro 12, 07100 Sassari, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2019.02.002DOI Listing
May 2019
1 Read
2.646 Impact Factor

Recent trends in treatment of thalassemia.

Blood Cells Mol Dis 2019 05 4;76:53-58. Epub 2019 Feb 4.

Pediatric Hematology & BMT Unit, Pediatrics Department, Cairo University, Cairo, Egypt. Electronic address:

Thalassemia is a common inherited monogenic disease. It is characterized by chronic hemolysis, ineffective erythropoiesis (IE) and iron overload. Despite advances in transfusion practices and chelation therapy, still many limitations in delivering these standard therapies exist. Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.01.006DOI Listing
May 2019
3 Reads

Ferritin in serum and urine: A pilot study.

Blood Cells Mol Dis 2019 05 8;76:59-62. Epub 2019 Feb 8.

Division of Hematology/Oncology, University of Utah, Salt Lake City, UT, USA.

Serum ferritin reflects total body iron stores, thus a low serum ferritin is used as a parameter of iron deficiency. In healthy adults in Japan, urine ferritin levels were about 5% of serum ferritin levels, with a correlation coefficient of 0.79. Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420832PMC

HemoTypeSC, a low-cost point-of-care testing device for sickle cell disease: Promises and challenges.

Blood Cells Mol Dis 2019 Feb 8. Epub 2019 Feb 8.

Department of Paediatrics, Kuwait University, Kuwait.

Background: Sickle cell disease (SCD) is a neglected burden of growing importance. >312,000 births are affected annually by sickle cell anaemia (SCA). Early interventions such as newborn screening, penicillin prophylaxis and hydroxyurea can substantially reduce the mortality and morbidity associated with SCD. Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.01.007DOI Listing
February 2019
2 Reads
2.646 Impact Factor

Thrombocytopenia associated with high levels of inhibin. A case study.

Blood Cells Mol Dis 2019 05 28;76:22-24. Epub 2019 Jan 28.

Division of Hematology, Department of Medicine, University of Miami Leonard M. Miller School of Medicine/Sylvester Comprehensive Cancer Center, United States of America; Division of Pediatric Hematology, Oncology & Stem Cell Transplantation, Department of Pediatrics, Hemophilia Treatment Center, University of Miami Leonard M. Miller School of Medicine, United States of America.

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http://dx.doi.org/10.1016/j.bcmd.2019.01.001DOI Listing

Reprogramming of bone marrow derived mesenchymal stromal cells to human induced pluripotent stem cells from pediatric patients with hematological diseases using a commercial mRNA kit.

Blood Cells Mol Dis 2019 05 24;76:32-39. Epub 2019 Jan 24.

Stem Cell Transplant Unit, Aghia Sophia Children's Hospital, Athens 11527, Greece.

The potential use of patient-specific induced pluripotent stem cells (hiPSCs) in the study and treatment of hematological diseases requires the setup of efficient and safe protocols for hiPSC generation. We aimed to adopt a reprogramming method for large-scale production of integration-free patient-specific hiPSC-lines in our stem cell processing laboratory, which supports a pediatric hematopoietic stem cell transplant unit located at a tertiary care children's hospital. We describe our 5-year experience in generation of hiPSC-lines from human bone marrow-derived mesenchymal stromal cells (BM-MSCs) using synthetic mRNAs encoding reprogramming factors. Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.01.003DOI Listing
May 2019
2 Reads

Acute myeloid leukemia with central diabetes insipidus.

Blood Cells Mol Dis 2019 05 24;76:45-52. Epub 2019 Jan 24.

Department of Medicine, Knappschaftskrankenhaus, Ruhr-University Bochum, Germany.

While acute myeloid leukemia (AML) is the most common type of acute leukemia in adulthood, the constellation of AML associated with central diabetes insipidus (CDI) is rare and typically occurs in patients with chromosome 3 or 7 abnormalities. This subgroup of AML is associated with a poor clinical outcome. In this report, we present a young woman with AML and concurrent CDI in the presence of inversion(3)(q21q26). Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.01.005DOI Listing
May 2019
2 Reads

Scurvy, an old story in a new time: The hematologist's experience.

Blood Cells Mol Dis 2019 May 24;76:40-44. Epub 2019 Jan 24.

Division of Hematopathology and Transfusion Medicine, University of Ottawa, Canada.

Background: Scurvy is a rare entity in developed countries and the diagnosis may often be delayed resulting in unnecessary investigations and/or potentially severe complications. A recent increase in the number of patients diagnosed with scurvy in our hematology clinics indicated the need to review the literature on the diagnosis and optimal management of similar patients.

Methods: We conducted a retrospective chart review of patients referred to hematology at our tertiary care centre between 2010 and 2018, who were ultimately diagnosed with scurvy. Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.01.004DOI Listing
May 2019
16 Reads

Downregulation of intrinsic apoptosis pathway in erythroblasts contributes to excessive erythrocytosis of chronic mountain sickness.

Blood Cells Mol Dis 2019 05 9;76:25-31. Epub 2019 Jan 9.

Department of Hematology, Affiliated Hospital of Qinghai University, Xining, China; Research Center for High Altitude Medicine, Qinghai University, Xining, China. Electronic address:

Chronic mountain sickness (CMS) has a higher incidence in the plateau region and is characterized by excessive erythrocytosis and hypoxemia. Bcl-2 family plays an important role in the process of erythropoiesis and the regulation of apoptosis. This study aimed to examine the change in apoptosis of erythroblasts in CMS patients and explore the involvement of Bcl-2 family. Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.01.002DOI Listing

Rutin and curcumin reduce inflammation, triglyceride levels and ADA activity in serum and immune cells in a model of hyperlipidemia.

Blood Cells Mol Dis 2019 05 28;76:13-21. Epub 2018 Dec 28.

Laboratório de Imunobiologia Experimental e Aplicada (LABIBIO), Departamento de Microbiologia e Parasitologia, Centro de Ciências da Saúde, Universidade Federal de Santa Maria, Santa Maria, RS, Brazil; Programa de Pós-Graduação em Bioquímica Toxicológica, Centro de Ciências Naturais e Exatas, Universidade Federal de Santa Maria, Santa Maria, RS, Brazil. Electronic address:

Hyperlipidemia is associated with endothelial dysfunction and inflammatory disorders. Adenosine and adenosine deaminase (ADA) modulate immune responses and lipid metabolism. Curcumin and rutin are polyphenols with antioxidant, anti-inflammatory, and hypolipidemic effects. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10799796183044
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http://dx.doi.org/10.1016/j.bcmd.2018.12.005DOI Listing
May 2019
12 Reads

An efficient method to generate xenograft tumor models of acute myeloid leukemia and hepatocellular carcinoma in adult zebrafish.

Blood Cells Mol Dis 2019 03 30;75:48-55. Epub 2018 Dec 30.

Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, UP, India. Electronic address:

Zebrafish is emerging as a promising model for the study of human cancers. Several xenograft models of zebrafish have been developed, particularly in larval stages (<48 h post fertilization) when the immune system of fish is not developed. However, xenografting in adult zebrafish requires laborious and transient methods of immune suppression (γ- irradiation or dexamethasone) that limits engraftment and survival of the tumor or fail to recapitulate specific characteristics of malignancies. Read More

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http://dx.doi.org/10.1016/j.bcmd.2018.12.007DOI Listing
March 2019
2 Reads

Silencing of circ_0009910 inhibits acute myeloid leukemia cell growth through increasing miR-20a-5p.

Blood Cells Mol Dis 2019 03 28;75:41-47. Epub 2018 Dec 28.

Laboratory of Hematology, Hunan Provincial People's Hospital, The First-Affiliated Hospital of Hunan Normal University, Changsha 410002, Hunan Province, China. Electronic address:

Acute myeloid leukemia (AML) is the most common acute leukemia in adults, which is aggressive cancer. CircRNAs are abundantly expressed in the hematologic malignancy cells. In this study, we aimed to investigate the expression profiling of circRNAs in AML. Read More

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http://dx.doi.org/10.1016/j.bcmd.2018.12.006DOI Listing

WT1 gene is overexpressed in myeloproliferative neoplasms, especially in myelofibrosis.

Blood Cells Mol Dis 2019 03 20;75:35-40. Epub 2018 Dec 20.

Université Angers, UFR Santé, Angers, France; CHU Angers, Laboratoire d'Hématologie, Angers, France; INSERM, CRCINA, Université de Nantes, Université d'Angers, France; Fédération Hospitalo-Universitaire 'Grand Ouest Against Leukemia' (FHU GOAL), France. Electronic address:

Classical Philadelphia-negative myeloproliferative neoplasms include Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF). They are characterized by the presence of driver mutations of JAK2, CALR or MPL genes. Overexpression of WT1 is used as a marker of minimal residual disease in acute myeloid leukemia, especially after allogeneic stem cell transplantation (SCT). Read More

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http://dx.doi.org/10.1016/j.bcmd.2018.12.004DOI Listing
March 2019
6 Reads

Association of fetal hemoglobin level with frequency of acute pain episodes in sickle cell disease (HbS-only phenotype) patients.

Blood Cells Mol Dis 2019 Mar 20;75:30-34. Epub 2018 Dec 20.

School of Life Sciences, AIPH University, Bhubaneswar, Odisha, India. Electronic address:

Background: Sickle cell disease (SCD) is a Mendelian single gene disorder with highly variable phenotypic expression. In the present study, we analyzed the influence of HbF, alpha thalassemia and other hematological indices to determine their association with acute pain episodes.

Method: This case control study consisted of SCD subjects with HbS phenotype experiencing three or more acute pain episodes in last twelve months (cases) and without any episode of acute pain during last twelve months (controls). Read More

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http://dx.doi.org/10.1016/j.bcmd.2018.12.003DOI Listing
March 2019
3 Reads
2.646 Impact Factor

Favourable improvement in haematological parameters in response to oral iron and vitamin C combination in children with Iron Refractory Iron Deficiency Anemia (IRIDA) phenotype.

Blood Cells Mol Dis 2019 03 13;75:26-29. Epub 2018 Dec 13.

Pediatric Hematology Oncology Unit, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India.

Treatment in IRIDA focuses on use of intravenous iron preparations to circumvent oral absorptive defect resulting from high levels of hepcidin due to TMPRSS6 gene variations. However, recent case reports and recommendations on atypical microcytic hypochromic anemias advocate use of oral iron and vitamin c trial before parenteral iron, as the same results in comparable improvement in haemoglobin. We prospectively evaluated our IRIDA cohort (n = 7) with oral iron and vitamin c dose over a period of 10 weeks and noted complete response in majority (6/7 = 86%) with >2 g/dL rise in Hb along with significant improvement of other iron related indices. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10799796183041
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http://dx.doi.org/10.1016/j.bcmd.2018.12.002DOI Listing
March 2019
7 Reads

Assessment of IL-17F rs763780 gene polymorphism in immune thrombocytopenia.

Blood Cells Mol Dis 2019 03 14;75:20-25. Epub 2018 Dec 14.

M.B.B.Ch. Faculty of Medicine, Benha University, Egypt.

Interleukin-17F rs763780 (7488A/G) gene polymorphism obviously affecting the expression and activity of IL17F and may affect primary immune thrombocytopenia (PIT) susceptibility and its clinical features in Egyptian children and adults. 105 ITP patients divided into (63 pediatric and 42 adult patient) and 112 age and sex matched healthy controls were enrolled in this case control study. All patients were subjected to history taking; clinical examination, CBC, bone marrow aspiration and genotyping of IL17F rs763780 polymorphism by (PCR-RFLP) technique. Read More

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http://dx.doi.org/10.1016/j.bcmd.2018.12.001DOI Listing
March 2019
2 Reads

Analysis of clinical and molecular features of MDS patients with complex karyotype in China.

Blood Cells Mol Dis 2019 03 22;75:13-19. Epub 2018 Nov 22.

Department of Hematology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou 310003, Zhejiang, China; Myelodysplastic Syndromes Diagnosis and Therapy Center, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou 310003, Zhejiang, China. Electronic address:

We retrospectively analyzed 101 primary MDS patients with complex karyotype during January 2010 and April 2017.The median overall survival (OS) time was 13 (95% CI 9.98-16. Read More

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http://dx.doi.org/10.1016/j.bcmd.2018.11.006DOI Listing
March 2019
3 Reads

Anti-factor VIII inhibitors against A2 and C2 domains in hemophilia A patients from India.

Blood Cells Mol Dis 2019 03 16;75:11-12. Epub 2018 Nov 16.

Department of Hemostasis and Thrombosis, National Institute of Immunohaematology (ICMR), KEM Hospital, Mumbai, India. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2018.11.004DOI Listing
March 2019
1 Read
2.646 Impact Factor

Primary CNS lymphoma patient-derived orthotopic xenograft model capture the biological and molecular characteristics of the disease.

Blood Cells Mol Dis 2019 03 16;75:1-10. Epub 2018 Nov 16.

Institut Curie, Site Saint-Cloud Hematology, Saint-Cloud, France. Electronic address:

Primary CNS lymphomas (PCNSL) are rare and poor prognosis diffuse large B-cell lymphomas. Because of the brain tumor environment and the restricted distribution of drugs in the CNS, specific PCNSL patient-derived orthotopic xenograft (PDOX) models are needed for preclinical research to improve the prognosis of PCNSL patients. PCNSL patient specimens (n = 6) were grafted in the caudate nucleus of immunodeficient nude mice with a 83% rate of success, while subcutaneous implantation in nude mice of human PCNSL sample did not generate lymphoma, supporting the role of the brain microenvironment in the PCNSL physiopathology. Read More

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http://dx.doi.org/10.1016/j.bcmd.2018.11.005DOI Listing
March 2019
3 Reads

Coexistence of Gaucher Disease and severe congenital neutropenia.

Blood Cells Mol Dis 2019 05 10;76:1-6. Epub 2018 Aug 10.

Ege University Medical Faculty, Pediatric Metabolism Department, İzmir, Turkey.

Gaucher Disease (GD) is the most common lysosomal storage disorder has traditionally been classified into three clinical phenotypes. Type 3 GD is characterized by neurological involvement but neurological symptoms generally appear later in life than in type 2 disease. Neutropenia is much rarer than other hematological manifestations in GD and has not been scrutinized adequately. Read More

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http://dx.doi.org/10.1016/j.bcmd.2018.07.001DOI Listing
May 2019
14 Reads

TET2 rs2454206, TET2 rs12498609 and ASXL1 rs3746609 single nucleotide polymorphisms in patients with myelodysplastic syndromes.

Blood Cells Mol Dis 2019 02 7;74:44-50. Epub 2018 Nov 7.

Department of Hematology, The Second Hospital of Shanxi Medical University,382 Wuyi St, Taiyuan, Shanxi, China. Electronic address:

To study the association between TET2rs2454206, TET2rs12498609 and ASXL1rs3746609 and Myelodysplastic syndromes (MDS), a total of 90 MDS patients and 143 healthy volunteers were included. The clinical data, bone marrow samples of patients and peripheral blood samples of volunteers were obtained. We found TET2rs2454206 G/A genotype, TET2rs12498609 G/C genotype and ASXL1rs3746609 A/G genotype in 13. Read More

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http://dx.doi.org/10.1016/j.bcmd.2018.11.002DOI Listing
February 2019
3 Reads

Circulating microvesicles are less procoagulant and carry different miRNA cargo in myelodysplasia.

Blood Cells Mol Dis 2019 Feb 7;74:37-43. Epub 2018 Nov 7.

Haematology Department, Calvary Mater Newcastle, Australia; Hunter Medical Research Institute, New Lambton, Australia; Hunter Cancer Research Alliance, NSW, Australia; School of Biomedical Sciences and Pharmacy, University of Newcastle, Australia.

Background And Aims: Myelodysplasia (MDS) is characterised by abnormal haematopoiesis and increased risk of bleeding. Microvesicles (MV) play a key role in coagulation and their impact in MDS is unknown.

Methods: Platelet free plasma from 35 red-cell transfusion-dependent MDS patients and 15 controls were analysed. Read More

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http://dx.doi.org/10.1016/j.bcmd.2018.11.001DOI Listing
February 2019
20 Reads

Hepatocellular carcinoma in Gaucher disease: Reinforcing the proposed guidelines.

Blood Cells Mol Dis 2019 02 18;74:34-36. Epub 2018 Oct 18.

School of Medicine, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Postgraduate Program on Genetics and Molecular Biology, UFRGS, Porto Alegre, RS, Brazil; Medical Genetics Service, HCPA, UFRGS, Porto Alegre, RS, Brazil.

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https://linkinghub.elsevier.com/retrieve/pii/S10799796183025
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http://dx.doi.org/10.1016/j.bcmd.2018.10.004DOI Listing
February 2019
1 Read

Metabolic syndrome among adults living with sickle cell disease.

Blood Cells Mol Dis 2019 02 22;74:25-29. Epub 2018 Oct 22.

Johns Hopkins School of Medicine, USA.

Metabolic syndrome (MetS) is a key risk factor for cardiovascular disease (CVD) incidence and all-cause mortality. MetS prevalence among adults with sickle cell disease (SCD) is not well known. We report initial findings from a cross-sectional study that examined MetS risk factors within a cohort of adults living with SCD. Read More

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http://dx.doi.org/10.1016/j.bcmd.2018.10.005DOI Listing
February 2019

Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis?

Blood Cells Mol Dis 2019 02 22;74:30-33. Epub 2018 Oct 22.

Univ Rennes, CHU Rennes, INSERM, French Reference Center for Hemochromatosis and Iron Metabolism Disease, F-35000 Rennes, France; Univ Rennes, CHU Rennes, INSERM, Liver Disease Department, F-35000 Rennes, France.

Juvenile hemochromatosis is a rare autosomal recessive disease due to variants in the Hemojuvelin (HJV) gene. Although biological features mimic HFE hemochromatosis, clinical presentation is worst with massive iron overload diagnosed during childhood. Our study describes clinical features and results of genetic testing for a group of patients initially referred for a hepcidino-deficiency syndrome and for whom HJV hemochromatosis was finally diagnosed. Read More

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http://dx.doi.org/10.1016/j.bcmd.2018.10.006DOI Listing
February 2019
25 Reads

Plasma-based protein biomarkers can predict the risk of acute graft-versus-host disease and non-relapse mortality in patients undergoing allogeneic hematopoietic stem cell transplantation.

Blood Cells Mol Dis 2019 02 4;74:5-12. Epub 2018 Oct 4.

Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:

Predictive biomarkers for acute graft-versus-host disease (aGVHD) is currently lacking. In this study, we employed an unbiased proteome profiling method to prospectively collected plasma samples from allogeneic hematopoietic stem cell transplantation (alloHSCT) recipients to identify protein biomarkers that predict the risk of aGVHD and non-relapse mortality (NRM). In the discovery set, including five aGVHD patients and five controls, we identified seven candidate proteins. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10799796183030
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http://dx.doi.org/10.1016/j.bcmd.2018.10.001DOI Listing
February 2019
18 Reads
2.646 Impact Factor

Detection of HFE Haemochromatosis in the clinic and community using standard erythrocyte tests.

Blood Cells Mol Dis 2019 02 10;74:18-24. Epub 2018 Oct 10.

Department of Gastroenterology & Hepatology, Fiona Stanley Fremantle Hospital Group, Murdoch, Western Australia, Australia; School of Medical and Health Sciences, Edith Cowan University, Joondalup, Western Australia, Australia. Electronic address:

Detection of HFE Haemochromatosis (HH) is challenging in the absence of clinical features. HH subjects have elevated erythrocyte parameters compared to those without HH, but it remains unclear how this could be applied in clinical practice. Thus, we determined the sensitivity, specificity and clinical utility of erythrocyte parameters in 144 HH subjects with (n = 122) or without (n = 22) clinical and/or biochemical expression of iron overload, 1844 general population controls, and 700 chronic disease subjects. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10799796183031
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http://dx.doi.org/10.1016/j.bcmd.2018.10.003DOI Listing
February 2019
12 Reads

Borderline hemoglobin A levels in northern Thai population: HBB genotypes and effects of coinherited alpha-thalassemia.

Blood Cells Mol Dis 2019 Feb 4;74:13-17. Epub 2018 Oct 4.

Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, 50200, Thailand. Electronic address:

Introduction: Identification of beta-thalassemia carrier in prenatal screening relies on the elevated Hb A level. Borderline Hb A levels pose a diagnostic challenge. We determined the HBB genotypes in subjects with borderline Hb A in northern Thailand and studied the effects of coinherited alpha-thalassemia on Hb A levels. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10799796183029
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http://dx.doi.org/10.1016/j.bcmd.2018.10.002DOI Listing
February 2019
19 Reads

Retrospective study of the incidence of portal vein thrombosis after splenectomy in hematological disorders: Risk factors and clinical presentation.

Blood Cells Mol Dis 2019 Feb 20;74:1-4. Epub 2018 Sep 20.

Thalassemia and Hemoglobinopathy Research Center, Research Institute of Health, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Objective: Portal vein thrombosis (PVT) has been described as a rare complication after splenectomy. PVT associated risk factors after splenectomy in hematological disorders are poorly recognized. The aim of this study was to assess the prevalence and risk factors of PVT incidence in splenectomized patients. Read More

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http://dx.doi.org/10.1016/j.bcmd.2018.09.005DOI Listing
February 2019
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Evaluation of the activity levels of rat FVIII and human FVIII delivered by adeno-associated viral vectors both in vitro and in vivo.

Blood Cells Mol Dis 2018 11 20;73:47-54. Epub 2018 Sep 20.

State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China; Collaborative Innovation Center of Hematology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, 197 Ruijin Road II, Shanghai 200025, China. Electronic address:

The development of a novel coagulation factor VIII (FVIII) expression cassette with an enhanced activity for gene therapy of hemophilia A (HA) is essential. The biological properties of several non-human FVIII sequences, such as porcine and canine, have been evaluated. Here, we compared the activity level of rat FVIII (rFVIII) and human FVIII (hFVIII) by using single-chain and dual-chain strategies in 293 T cells and the HA mice. Read More

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http://dx.doi.org/10.1016/j.bcmd.2018.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6258068PMC
November 2018
7 Reads
2.650 Impact Factor

CircBA9.3 supports the survival of leukaemic cells by up-regulating c-ABL1 or BCR-ABL1 protein levels.

Blood Cells Mol Dis 2018 11 14;73:38-44. Epub 2018 Sep 14.

Shenzhen Bone Marrow Transplantation Public Service Platform, Department of Haematology, Shenzhen Second People's Hospital, The First Affiliated Hospital of Shenzhen University, Shenzhen 518000, China. Electronic address:

The unchecked tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. Therefore, this oncogene is a highly important therapeutic target for chronic myelogenous leukaemia (CML). Tyrosine kinase inhibitors (TKIs) are an excellent drug treatment for CML patients. Read More

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http://dx.doi.org/10.1016/j.bcmd.2018.09.002DOI Listing
November 2018
2 Reads